{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA388015426", "communityStandardTitle": [ "NM_000053.4(ATP7B):c.2578G>T (p.Glu860Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2182638[alleleid]", "alleleId": 2182638, "preferredName": "NM_000053.4(ATP7B):c.2578G>T (p.Glu860Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2115699", "RCV": [ "RCV003046592" ], "variationId": 2115699 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.52524295C>A?assembly=hg19", "id": "chr13:g.52524295C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.51950159C>A?assembly=hg38", "id": "chr13:g.51950159C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/750154146", "rs": 750154146 } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51950159, "referenceAllele": "C", "start": 51950158 } ], "hgvs": [ "NC_000013.11:g.51950159C>A", "CM000675.2:g.51950159C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 52524295, "referenceAllele": "C", "start": 52524294 } ], "hgvs": [ "NC_000013.10:g.52524295C>A", "CM000675.1:g.52524295C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 51422296, "referenceAllele": "C", "start": 51422295 } ], "hgvs": [ "NC_000013.9:g.51422296C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "T", "end": 66336, "referenceAllele": "G", "start": 66335 } ], "hgvs": [ "NG_008806.1:g.66336G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001225" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2516, "referenceAllele": "G", "start": 2515 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.2:c.*411G>T" ], "proteinEffect": { "hgvs": "ENSP00000489512.2:n.*411G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914381" }, { "coordinates": [ { "allele": "T", "end": 3115, "referenceAllele": "G", "start": 3114 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673864.2:c.*1322G>T" ], "proteinEffect": { "hgvs": "ENSP00000501045.2:n.*1322G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914449" }, { "coordinates": [ { "allele": "T", "end": 2205, "referenceAllele": "G", "start": 2204 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.2:c.2092G>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.2:p.Glu698Ter", "hgvsWellDefined": "ENSP00000500964.2:p.Glu698_Ile1258delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914453" }, { "coordinates": [ { "allele": "T", "end": 2691, "referenceAllele": "G", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.10:c.2578G>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.5:p.Glu860Ter", "hgvsWellDefined": "ENSP00000242839.5:p.Glu860_Ile1465delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741157", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.2578G>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.2578G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Glu860Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Glu860Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2249, "referenceAllele": "G", "start": 2248 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.9:c.2092G>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Glu698Ter", "hgvsWellDefined": "ENSP00000342559.5:p.Glu698_Ile1258delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748204" }, { "coordinates": [ { "allele": "T", "end": 2245, "referenceAllele": "G", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.6:c.2245G>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Glu749Ter", "hgvsWellDefined": "ENSP00000383217.3:p.Glu749_Ile1354delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753917" }, { "coordinates": [ { "allele": "T", "end": 2579, "referenceAllele": "G", "start": 2578 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.7:c.2326G>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.3:p.Glu776Ter", "hgvsWellDefined": "ENSP00000416738.3:p.Glu776_Ile1381delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756171" }, { "coordinates": [ { "allele": "T", "end": 2418, "referenceAllele": "G", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000673772.1:c.2344G>T" ], "proteinEffect": { "hgvs": "ENSP00000501168.1:p.Glu782Ter", "hgvsWellDefined": "ENSP00000501168.1:p.Glu782_Ile1387delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773858" }, { "coordinates": [ { "allele": "T", "end": 1648, "referenceAllele": "G", "start": 1647 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000674147.1:c.1648G>T" ], "proteinEffect": { "hgvs": "ENSP00000500964.1:p.Glu550Ter", "hgvsWellDefined": "ENSP00000500964.1:p.Glu550_Ile1110delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774163" }, { "coordinates": [ { "allele": "T", "end": 2735, "referenceAllele": "G", "start": 2734 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000242839.8:c.2578G>T" ], "proteinEffect": { "hgvs": "ENSP00000242839.4:p.Glu860Ter", "hgvsWellDefined": "ENSP00000242839.4:p.Glu860_Ile1465delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249232" }, { "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "G", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000344297.8:c.2092G>T" ], "proteinEffect": { "hgvs": "ENSP00000342559.5:p.Glu698Ter", "hgvsWellDefined": "ENSP00000342559.5:p.Glu698_Ile1258delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261940" }, { "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "G", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400366.5:c.2245G>T" ], "proteinEffect": { "hgvs": "ENSP00000383217.3:p.Glu749Ter", "hgvsWellDefined": "ENSP00000383217.3:p.Glu749_Ile1354delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279007" }, { "coordinates": [ { "allele": "T", "end": 1362, "referenceAllele": "G", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000400370.8:c.1288G>T" ], "proteinEffect": { "hgvs": "ENSP00000383221.3:p.Glu430Ter", "hgvsWellDefined": "ENSP00000383221.3:p.Glu430_Ile1035delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279009" }, { "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "G", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000418097.7:c.2578G>T" ], "proteinEffect": { "hgvs": "ENSP00000393343.2:p.Glu860Ter", "hgvsWellDefined": "ENSP00000393343.2:p.Glu860_Ile1400delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285231" }, { "coordinates": [ { "allele": "T", "end": 2501, "referenceAllele": "G", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000448424.6:c.2344G>T" ], "proteinEffect": { "hgvs": "ENSP00000416738.2:p.Glu782Ter", "hgvsWellDefined": "ENSP00000416738.2:p.Glu782_Ile1387delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299723" }, { "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "G", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634296.1:c.539G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS407767" }, { "coordinates": [ { "allele": "T", "end": 2416, "referenceAllele": "G", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634308.1:c.2344G>T" ], "proteinEffect": { "hgvs": "ENSP00000489234.1:p.Glu782Ter", "hgvsWellDefined": "ENSP00000489234.1:p.Glu782_Arg894delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProGlyGlyCysTrpGlnMetArgThrProThrSerThrSerProArgGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407771" }, { "coordinates": [ { "allele": "T", "end": 3376, "referenceAllele": "G", "start": 3375 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634620.1:n.3376G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS407886" }, { "coordinates": [ { "allele": "T", "end": 1923, "referenceAllele": "G", "start": 1922 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634810.1:n.1923G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS407945" }, { "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "G", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000634844.1:c.2434G>T" ], "proteinEffect": { "hgvs": "ENSP00000489398.1:p.Glu812Ter", "hgvsWellDefined": "ENSP00000489398.1:p.Glu812_Ile1417delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407955" }, { "coordinates": [ { "allele": "T", "end": 211, "endIntronDirection": "-", "endIntronOffset": 3680, "referenceAllele": "G", "start": 211, "startIntronDirection": "-", "startIntronOffset": 3681 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "ENST00000635406.1:n.212-3681G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS408123" }, { "@id": "http://reg.genome.network/allele/PA2825038490", "coordinates": [ { "allele": "T", "end": 2735, "referenceAllele": "G", "start": 2734 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.3:c.2578G>T" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Glu860Ter", "hgvsWellDefined": "NP_000044.2:p.Glu860_Ile1465delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006118" }, { "@id": "http://reg.genome.network/allele/PA2825279659", "coordinates": [ { "allele": "T", "end": 2249, "referenceAllele": "G", "start": 2248 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.2:c.2092G>T" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Glu698Ter", "hgvsWellDefined": "NP_001005918.1:p.Glu698_Ile1258delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007800" }, { "@id": "http://reg.genome.network/allele/PA2826317880", "coordinates": [ { "allele": "T", "end": 2402, "referenceAllele": "G", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.1:c.2245G>T" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Glu749Ter", "hgvsWellDefined": "NP_001230111.1:p.Glu749_Ile1354delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018435" }, { "coordinates": [ { "allele": "T", "end": 2640, "referenceAllele": "G", "start": 2639 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266423.2:c.2482G>T" ], "proteinEffect": { "hgvs": "XP_005266480.1:p.Glu828Ter", "hgvsWellDefined": "XP_005266480.1:p.Glu828_Ile1433delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065049" }, { "coordinates": [ { "allele": "T", "end": 2732, "referenceAllele": "G", "start": 2731 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.3:c.2482G>T" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Glu828Ter", "hgvsWellDefined": "XP_005266481.1:p.Glu828_Ile1433delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065050" }, { "coordinates": [ { "allele": "T", "end": 2563, "referenceAllele": "G", "start": 2562 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266427.2:c.2344G>T" ], "proteinEffect": { "hgvs": "XP_005266484.1:p.Glu782Ter", "hgvsWellDefined": "XP_005266484.1:p.Glu782_Ile1387delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065051" }, { "coordinates": [ { "allele": "T", "end": 2545, "referenceAllele": "G", "start": 2544 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266428.1:c.2326G>T" ], "proteinEffect": { "hgvs": "XP_005266485.1:p.Glu776Ter", "hgvsWellDefined": "XP_005266485.1:p.Glu776_Ile1381delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065052" }, { "coordinates": [ { "allele": "T", "end": 2712, "referenceAllele": "G", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.3:c.2578G>T" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Glu860Ter", "hgvsWellDefined": "XP_005266487.1:p.Glu860_Ile1465delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065053" }, { "coordinates": [ { "allele": "T", "end": 2557, "referenceAllele": "G", "start": 2556 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.2:c.2542G>T" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Glu848Ter", "hgvsWellDefined": "XP_005266488.1:p.Glu848_Ile1453delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065054" }, { "coordinates": [ { "allele": "T", "end": 2311, "referenceAllele": "G", "start": 2310 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266432.2:c.2092G>T" ], "proteinEffect": { "hgvs": "XP_005266489.1:p.Glu698Ter", "hgvsWellDefined": "XP_005266489.1:p.Glu698_Ile1303delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065055" }, { "coordinates": [ { "allele": "T", "end": 2572, "referenceAllele": "G", "start": 2571 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.2:c.2482G>T" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Glu828Ter", "hgvsWellDefined": "XP_006719900.1:p.Glu828_Ile1433delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073355" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "G", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719838.1:c.394G>T" ], "proteinEffect": { "hgvs": "XP_006719901.1:p.Glu132Ter", "hgvsWellDefined": "XP_006719901.1:p.Glu132_Ile737delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073356" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "G", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719839.1:c.394G>T" ], "proteinEffect": { "hgvs": "XP_006719902.1:p.Glu132Ter", "hgvsWellDefined": "XP_006719902.1:p.Glu132_Ile676delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073357" }, { "coordinates": [ { "allele": "T", "end": 2584, "referenceAllele": "G", "start": 2583 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.1:c.2482G>T" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Glu828Ter", "hgvsWellDefined": "XP_011533419.1:p.Glu828_Ile1433delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102126" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "G", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535118.1:c.2578G>T" ], "proteinEffect": { "hgvs": "XP_011533420.1:p.Glu860Ter", "hgvsWellDefined": "XP_011533420.1:p.Glu860_Ile1420delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102127" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "G", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535119.1:c.2578G>T" ], "proteinEffect": { "hgvs": "XP_011533421.1:p.Glu860Ter", "hgvsWellDefined": "XP_011533421.1:p.Glu860_Ile1404delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102128" }, { "coordinates": [ { "allele": "T", "end": 2383, "referenceAllele": "G", "start": 2382 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535120.1:c.2164G>T" ], "proteinEffect": { "hgvs": "XP_011533422.1:p.Glu722Ter", "hgvsWellDefined": "XP_011533422.1:p.Glu722_Ile1327delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102129" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "G", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535121.1:c.2578G>T" ], "proteinEffect": { "hgvs": "XP_011533423.1:p.Glu860Ter", "hgvsWellDefined": "XP_011533423.1:p.Glu860_Ile1294delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102130" }, { "coordinates": [ { "allele": "T", "end": 1359, "referenceAllele": "G", "start": 1358 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535122.1:c.1246G>T" ], "proteinEffect": { "hgvs": "XP_011533424.1:p.Glu416Ter", "hgvsWellDefined": "XP_011533424.1:p.Glu416_Ile1021delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102131" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "G", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941601.1:n.2797G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136194" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "G", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941602.1:n.2797G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136195" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "G", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941603.1:n.2797G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136196" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "G", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XR_941604.1:n.2797G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136197" }, { "@id": "http://reg.genome.network/allele/PA2827326010", "coordinates": [ { "allele": "T", "end": 2501, "referenceAllele": "G", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.1:c.2344G>T" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Glu782Ter", "hgvsWellDefined": "NP_001317507.1:p.Glu782_Ile1387delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516930" }, { "@id": "http://reg.genome.network/allele/PA2827329198", "coordinates": [ { "allele": "T", "end": 2483, "referenceAllele": "G", "start": 2482 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.1:c.2326G>T" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Glu776Ter", "hgvsWellDefined": "NP_001317508.1:p.Glu776_Ile1381delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516931" }, { "coordinates": [ { "allele": "T", "end": 3261, "referenceAllele": "G", "start": 3260 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266424.4:c.2482G>T" ], "proteinEffect": { "hgvs": "XP_005266481.1:p.Glu828Ter", "hgvsWellDefined": "XP_005266481.1:p.Glu828_Ile1433delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536236" }, { "coordinates": [ { "allele": "T", "end": 2743, "referenceAllele": "G", "start": 2742 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266430.4:c.2578G>T" ], "proteinEffect": { "hgvs": "XP_005266487.1:p.Glu860Ter", "hgvsWellDefined": "XP_005266487.1:p.Glu860_Ile1465delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536237" }, { "coordinates": [ { "allele": "T", "end": 5627, "referenceAllele": "G", "start": 5626 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_005266431.4:c.2542G>T" ], "proteinEffect": { "hgvs": "XP_005266488.1:p.Glu848Ter", "hgvsWellDefined": "XP_005266488.1:p.Glu848_Ile1453delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536238" }, { "coordinates": [ { "allele": "T", "end": 2889, "referenceAllele": "G", "start": 2888 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_006719837.3:c.2482G>T" ], "proteinEffect": { "hgvs": "XP_006719900.1:p.Glu828Ter", "hgvsWellDefined": "XP_006719900.1:p.Glu828_Ile1433delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539964" }, { "coordinates": [ { "allele": "T", "end": 3824, "referenceAllele": "G", "start": 3823 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_011535117.3:c.2482G>T" ], "proteinEffect": { "hgvs": "XP_011533419.1:p.Glu828Ter", "hgvsWellDefined": "XP_011533419.1:p.Glu828_Ile1433delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551907" }, { "coordinates": [ { "allele": "T", "end": 2639, "referenceAllele": "G", "start": 2638 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "XM_017020627.1:c.2482G>T" ], "proteinEffect": { "hgvs": "XP_016876116.1:p.Glu828Ter", "hgvsWellDefined": "XP_016876116.1:p.Glu828_Ile1433delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572060" }, { "@id": "http://reg.genome.network/allele/PA2825038490", "coordinates": [ { "allele": "T", "end": 2691, "referenceAllele": "G", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_000053.4:c.2578G>T" ], "proteinEffect": { "hgvs": "NP_000044.2:p.Glu860Ter", "hgvsWellDefined": "NP_000044.2:p.Glu860_Ile1465delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674679", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242839.10:c.2578G>T" }, "RefSeq": { "hgvs": "NM_000053.4:c.2578G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242839.5:p.Glu860Ter" }, "RefSeq": { "hgvs": "NP_000044.2:p.Glu860Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825279659", "coordinates": [ { "allele": "T", "end": 2205, "referenceAllele": "G", "start": 2204 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001005918.3:c.2092G>T" ], "proteinEffect": { "hgvs": "NP_001005918.1:p.Glu698Ter", "hgvsWellDefined": "NP_001005918.1:p.Glu698_Ile1258delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675222" }, { "@id": "http://reg.genome.network/allele/PA2827329198", "coordinates": [ { "allele": "T", "end": 2439, "referenceAllele": "G", "start": 2438 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330579.2:c.2326G>T" ], "proteinEffect": { "hgvs": "NP_001317508.1:p.Glu776Ter", "hgvsWellDefined": "NP_001317508.1:p.Glu776_Ile1381delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687016" }, { "@id": "http://reg.genome.network/allele/PA2826317880", "coordinates": [ { "allele": "T", "end": 2358, "referenceAllele": "G", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001243182.2:c.2245G>T" ], "proteinEffect": { "hgvs": "NP_001230111.1:p.Glu749Ter", "hgvsWellDefined": "NP_001230111.1:p.Glu749_Ile1354delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714450" }, { "@id": "http://reg.genome.network/allele/PA2827326010", "coordinates": [ { "allele": "T", "end": 2457, "referenceAllele": "G", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN000870", "geneNCBI_id": 540, "geneSymbol": "ATP7B", "hgvs": [ "NM_001330578.2:c.2344G>T" ], "proteinEffect": { "hgvs": "NP_001317507.1:p.Glu782Ter", "hgvsWellDefined": "NP_001317507.1:p.Glu782_Ile1387delinsAlaMetProValThrLysLysProGlySerThrValIleAlaGlySerIleAsnAlaHisGlySerValLeuIleLysAlaThrHisValGlyAsnAspThrThrLeuAlaGlnIleValLysLeuValGluGluAlaGlnMetSerLysAlaProIleGlnGlnLeuAlaAspArgPheSerGlyTyrPheValProPheIleIleIleMetSerThrLeuThrLeuValValTrpIleValIleGlyPheIleAspPheGlyValValGlnArgTyrPheProAsnProAsnLysHisIleSerGlnThrGluValIleIleArgPheAlaPheGlnThrSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValAlaAlaGlnAsnGlyIleLeuIleLysGlyGlyLysProLeuGluMetAlaHisLysIleLysThrValMetPheAspLysThrGlyThrIleThrHisGlyValProArgValMetArgValLeuLeuLeuGlyAspValAlaThrLeuProLeuArgLysValLeuAlaValValGlyThrAlaGluAlaSerSerGluHisProLeuGlyValAlaValThrLysTyrCysLysGluGluLeuGlyThrGluThrLeuGlyTyrCysThrAspPheGlnAlaValProGlyCysGlyIleGlyCysLysValSerAsnValGluGlyIleLeuAlaHisSerGluArgProLeuSerAlaProAlaSerHisLeuAsnGluAlaGlySerLeuProAlaGluLysAspAlaValProGlnThrPheSerValLeuIleGlyAsnArgGluTrpLeuArgArgAsnGlyLeuThrIleSerSerAspValSerAspAlaMetThrAspHisGluMetLysGlyGlnThrAlaIleLeuValAlaIleAspGlyValLeuCysGlyMetIleAlaIleAlaAspAlaValLysGlnGluAlaAlaLeuAlaValHisThrLeuGlnSerMetGlyValAspValValLeuIleThrGlyAspAsnArgLysThrAlaArgAlaIleAlaThrGlnValGlyIleAsnLysValPheAlaGluValLeuProSerHisLysValAlaLysValGlnGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718719" } ], "type": "nucleotide" }