{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401236644", "communityStandardTitle": [ "NM_001127198.5(TMC6):c.115C>T (p.Gln39Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2975762[alleleid]", "alleleId": 2975762, "preferredName": "NM_001127198.5(TMC6):c.115C>T (p.Gln39Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2811249", "RCV": [ "RCV003760815" ], "variationId": 2811249 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.76122671G>A?assembly=hg19", "id": "chr17:g.76122671G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78126590G>A?assembly=hg38", "id": "chr17:g.78126590G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2074729420", "rs": 2074729420 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78126590-G-A?dataset=gnomad_r3", "id": "17-78126590-G-A", "variant": "17:78126590 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78126590-G-A?dataset=gnomad_r4", "id": "17-78126590-G-A", "variant": "17:78126590 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 78126590, "referenceAllele": "G", "start": 78126589 } ], "hgvs": [ "NC_000017.11:g.78126590G>A", "CM000679.2:g.78126590G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 76122671, "referenceAllele": "G", "start": 76122670 } ], "hgvs": [ "NC_000017.10:g.76122671G>A", "CM000679.1:g.76122671G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73634266, "referenceAllele": "G", "start": 73634265 } ], "hgvs": [ "NC_000017.9:g.73634266G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 10818, "referenceAllele": "C", "start": 10817 } ], "hgvs": [ "NG_007879.1:g.10818C>T", "LRG_118:g.10818C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000687" }, { "coordinates": [ { "allele": "A", "end": 813, "referenceAllele": "G", "start": 812 } ], "hgvs": [ "NG_007881.1:g.813G>A", "LRG_119:g.813G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000689" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.6:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000468255.2:p.Gln39Ter", "hgvsWellDefined": "ENSP00000468255.2:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906091" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.6:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000466885.2:p.Gln39Ter", "hgvsWellDefined": "ENSP00000466885.2:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906111" }, { "coordinates": [ { "allele": "T", "end": 257, "referenceAllele": "C", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698546.1:c.66C>T" ], "proteinEffect": { "hgvs": "ENSP00000513789.1:p.Ser22=" }, "referenceSequence": "http://reg.genome.network/refseq/RS909503" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698547.1:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000513790.1:p.Gln39Ter", "hgvsWellDefined": "ENSP00000513790.1:p.Gln39_Pro194delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgProCysThrAlaTrpAlaTrpArgCysSerProProCysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909504" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698548.1:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000513791.1:p.Gln39Ter", "hgvsWellDefined": "ENSP00000513791.1:p.Gln39_Ala745delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909505" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698549.1:c.66C>T" ], "proteinEffect": { "hgvs": "ENSP00000513792.1:p.Ser22=" }, "referenceSequence": "http://reg.genome.network/refseq/RS909506" }, { "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698550.1:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000513793.1:p.Gln39Ter", "hgvsWellDefined": "ENSP00000513793.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909507" }, { "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698551.1:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000513794.1:p.Gln39Ter", "hgvsWellDefined": "ENSP00000513794.1:p.Gln39_Gln714delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysGlyGluAlaLeuGluHisLeuArgProLeuProAspProGlyHisHisValArgGlyArgGlnGlyValGlyAlaProProGlyGlyGlyArgProGlnGlyLeuLeuAlaAlaLeuGlyAlaProValProAspGlyLysHisLeuLeuCysLeuProGlyValSerProAlaAlaGlyArgAspLeuProGlnHisProGlyGlyAlaGlyProAlaGlnGlyHisLeuProAlaGlnGlyAlaAspGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909508" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.6:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Gln39Ter", "hgvsWellDefined": "ENSP00000465261.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761208", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.115C>T" }, "RefSeq": { "hgvs": "NM_001127198.5:c.115C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Gln39Ter" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Gln39Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000306591.11:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000306405.6:p.Gln39Ter", "hgvsWellDefined": "ENSP00000306405.6:p.Gln39_Ala454delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255758" }, { "coordinates": [ { "allele": "T", "end": 256, "referenceAllele": "C", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000322914.7:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000313408.2:p.Gln39Ter", "hgvsWellDefined": "ENSP00000313408.2:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258141" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000392467.7:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000376260.2:p.Gln39Ter", "hgvsWellDefined": "ENSP00000376260.2:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275110" }, { "coordinates": [ { "allele": "T", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000586126.1:c.63C>T" ], "proteinEffect": { "hgvs": "ENSP00000466159.1:p.Ser21=" }, "referenceSequence": "http://reg.genome.network/refseq/RS389185" }, { "coordinates": [ { "allele": "T", "end": 203, "referenceAllele": "C", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000586697.5:n.203C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389574" }, { "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000588087.5:n.308C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390540" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000588792.5:n.333C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS391033" }, { "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.5:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000468255.1:p.Gln39Ter", "hgvsWellDefined": "ENSP00000468255.1:p.Gln39_Pro286del" }, "referenceSequence": "http://reg.genome.network/refseq/RS391375" }, { "coordinates": [ { "allele": "T", "end": 230, "referenceAllele": "C", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589553.5:c.-470C>T" ], "proteinEffect": { "hgvs": "ENSP00000465359.1:n.-470C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS391568" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590162.1:n.280C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS391994" }, { "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.5:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Gln39Ter", "hgvsWellDefined": "ENSP00000465261.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392304" }, { "coordinates": [ { "allele": "T", "end": 115, "referenceAllele": "C", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000591594.5:n.115C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392976" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.5:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000466885.1:p.Gln39Ter", "hgvsWellDefined": "ENSP00000466885.1:p.Gln39Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS393304" }, { "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592594.5:c.115C>T" ], "proteinEffect": { "hgvs": "ENSP00000467016.1:p.Gln39Ter", "hgvsWellDefined": "ENSP00000467016.1:p.Gln39Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS393679" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000593044.5:n.303C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393975" }, { "@id": "http://reg.genome.network/allele/PA2825628576", "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Gln39Ter", "hgvsWellDefined": "NP_001120670.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011536" }, { "@id": "http://reg.genome.network/allele/PA2741934411", "coordinates": [ { "allele": "T", "end": 256, "referenceAllele": "C", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.6:c.115C>T", "LRG_118t1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Gln39Ter", "hgvsWellDefined": "NP_009198.4:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032188" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256995.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_005257052.1:p.Gln39Ter", "hgvsWellDefined": "XP_005257052.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061527" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256996.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_005257053.1:p.Gln39Ter", "hgvsWellDefined": "XP_005257053.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061528" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256997.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_005257054.1:p.Gln39Ter", "hgvsWellDefined": "XP_005257054.1:p.Gln39_Ala745delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061529" }, { "coordinates": [ { "allele": "T", "end": 59, "referenceAllele": "C", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256998.1:c.-470C>T" ], "proteinEffect": { "hgvs": "XP_005257055.1:n.-470C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS061530" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524255.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_011522557.1:p.Gln39Ter", "hgvsWellDefined": "XP_011522557.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091383" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524256.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_011522558.1:p.Gln39Ter", "hgvsWellDefined": "XP_011522558.1:p.Gln39_Ala763delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091384" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524258.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_011522560.1:p.Gln39Ter", "hgvsWellDefined": "XP_011522560.1:p.Gln39_Ala455delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091386" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_243632.1:n.303C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116571" }, { "@id": "http://reg.genome.network/allele/PA2825628576", "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.2:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Gln39Ter", "hgvsWellDefined": "NP_001120670.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511401" }, { "@id": "http://reg.genome.network/allele/PA2827082479", "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001321185.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001308114.1:p.Gln39Ter", "hgvsWellDefined": "NP_001308114.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514101" }, { "@id": "http://reg.genome.network/allele/PA2741934411", "coordinates": [ { "allele": "T", "end": 276, "referenceAllele": "C", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.7:c.115C>T" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Gln39Ter", "hgvsWellDefined": "NP_009198.4:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525475" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024107.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_016879596.1:p.Gln39Ter", "hgvsWellDefined": "XP_016879596.1:p.Gln39_Ala745delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574737" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024108.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_016879597.1:p.Gln39Ter", "hgvsWellDefined": "XP_016879597.1:p.Gln39_Ala745delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574738" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450555.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_024306323.1:p.Gln39Ter", "hgvsWellDefined": "XP_024306323.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584089" }, { "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "C", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450556.1:c.115C>T" ], "proteinEffect": { "hgvs": "XP_024306324.1:p.Gln39Ter", "hgvsWellDefined": "XP_024306324.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584090" }, { "coordinates": [ { "allele": "T", "end": 264, "referenceAllele": "C", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450557.1:c.-470C>T" ], "proteinEffect": { "hgvs": "XP_024306325.1:n.-470C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS584091" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_001752420.1:n.303C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599126" }, { "@id": "http://reg.genome.network/allele/PA2825628576", "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.5:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Gln39Ter", "hgvsWellDefined": "NP_001120670.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.115C>T" }, "RefSeq": { "hgvs": "NM_001127198.5:c.115C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Gln39Ter" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Gln39Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828528514", "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374593.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001361522.1:p.Gln39Ter", "hgvsWellDefined": "NP_001361522.1:p.Gln39_Ala745delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693328" }, { "@id": "http://reg.genome.network/allele/PA2828528994", "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374594.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001361523.1:p.Gln39Ter", "hgvsWellDefined": "NP_001361523.1:p.Gln39_Ala745delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693329" }, { "@id": "http://reg.genome.network/allele/PA2828584758", "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375353.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001362282.1:p.Gln39Ter", "hgvsWellDefined": "NP_001362282.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693493" }, { "@id": "http://reg.genome.network/allele/PA2828585262", "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375354.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001362283.1:p.Gln39Ter", "hgvsWellDefined": "NP_001362283.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693494" }, { "@id": "http://reg.genome.network/allele/PA2828529476", "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374596.1:c.115C>T" ], "proteinEffect": { "hgvs": "NP_001361525.1:p.Gln39Ter", "hgvsWellDefined": "NP_001361525.1:p.Gln39_Ala805delinsGluGlnSerGlnCysThrAlaGlnGluGlyLeuGluLeuGlnGlnArgGluArgGluValThrGlySerSerGlnGlnThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721209" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168288.1:n.333C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731925" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168289.1:n.333C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731926" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168290.1:n.333C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731927" }, { "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168291.1:n.286C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731928" } ], "type": "nucleotide" }