{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338244150", "communityStandardTitle": [ "NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1165474[alleleid]", "alleleId": 1165474, "preferredName": "NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1176183", "RCV": [ "RCV001531613", "RCV003771646" ], "variationId": 1176183 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.17318514G>A?assembly=hg19", "id": "chr1:g.17318514G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.16992019G>A?assembly=hg38", "id": "chr1:g.16992019G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2076949269", "rs": 2076949269 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-16992019-G-A?dataset=gnomad_r3", "id": "1-16992019-G-A", "variant": "1:16992019 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-16992019-G-A?dataset=gnomad_r4", "id": "1-16992019-G-A", "variant": "1:16992019 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 16992019, "referenceAllele": "G", "start": 16992018 } ], "hgvs": [ "NC_000001.11:g.16992019G>A", "CM000663.2:g.16992019G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17318514, "referenceAllele": "G", "start": 17318513 } ], "hgvs": [ "NC_000001.10:g.17318514G>A", "CM000663.1:g.17318514G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17191101, "referenceAllele": "G", "start": 17191100 } ], "hgvs": [ "NC_000001.9:g.17191101G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 24910, "referenceAllele": "C", "start": 24909 } ], "hgvs": [ "NG_009054.1:g.24910C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001396" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2306, "referenceAllele": "C", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.13:c.2116C>T" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Gln706Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Gln706_Arg1180delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746785", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326735.13:c.2116C>T" }, "RefSeq": { "hgvs": "NM_022089.4:c.2116C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Gln706Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Gln706Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2150, "referenceAllele": "C", "start": 2149 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.12:c.2116C>T" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Gln706Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Gln706_Arg1180delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258661" }, { "coordinates": [ { "allele": "T", "end": 2278, "referenceAllele": "C", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000341676.9:c.2101C>T" ], "proteinEffect": { "hgvs": "ENSP00000341115.5:p.Gln701Ter", "hgvsWellDefined": "ENSP00000341115.5:p.Gln701_Val1158delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261383" }, { "coordinates": [ { "allele": "T", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000452699.5:c.2101C>T" ], "proteinEffect": { "hgvs": "ENSP00000413307.1:p.Gln701Ter", "hgvsWellDefined": "ENSP00000413307.1:p.Gln701_Arg1175delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301738" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000503552.1:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000421126.1:p.Gln176Ter", "hgvsWellDefined": "ENSP00000421126.1:p.Gln176_Ser258del" }, "referenceSequence": "http://reg.genome.network/refseq/RS335833" }, { "@id": "http://reg.genome.network/allele/PA2825835501", "coordinates": [ { "allele": "T", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.2:c.2101C>T" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Gln701Ter", "hgvsWellDefined": "NP_001135445.1:p.Gln701_Arg1175delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012784" }, { "@id": "http://reg.genome.network/allele/PA2825836913", "coordinates": [ { "allele": "T", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.2:c.2101C>T" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Gln701Ter", "hgvsWellDefined": "NP_001135446.1:p.Gln701_Val1158delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012785" }, { "@id": "http://reg.genome.network/allele/PA2499288748", "coordinates": [ { "allele": "T", "end": 2350, "referenceAllele": "C", "start": 2349 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.3:c.2116C>T" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Gln706Ter", "hgvsWellDefined": "NP_071372.1:p.Gln706_Arg1180delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037187" }, { "coordinates": [ { "allele": "T", "end": 2350, "referenceAllele": "C", "start": 2349 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245809.1:c.2116C>T" ], "proteinEffect": { "hgvs": "XP_005245866.1:p.Gln706Ter", "hgvsWellDefined": "XP_005245866.1:p.Gln706_Val1202delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057382" }, { "coordinates": [ { "allele": "T", "end": 2347, "referenceAllele": "C", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245810.1:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_005245867.1:p.Gln705Ter", "hgvsWellDefined": "XP_005245867.1:p.Gln705_Val1201delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057383" }, { "coordinates": [ { "allele": "T", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245811.1:c.2101C>T" ], "proteinEffect": { "hgvs": "XP_005245868.1:p.Gln701Ter", "hgvsWellDefined": "XP_005245868.1:p.Gln701_Val1197delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057384" }, { "coordinates": [ { "allele": "T", "end": 2323, "referenceAllele": "C", "start": 2322 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245812.1:c.2089C>T" ], "proteinEffect": { "hgvs": "XP_005245869.1:p.Gln697Ter", "hgvsWellDefined": "XP_005245869.1:p.Gln697_Val1193delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057385" }, { "coordinates": [ { "allele": "T", "end": 2290, "referenceAllele": "C", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245813.1:c.2056C>T" ], "proteinEffect": { "hgvs": "XP_005245870.1:p.Gln686Ter", "hgvsWellDefined": "XP_005245870.1:p.Gln686_Val1182delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057386" }, { "coordinates": [ { "allele": "T", "end": 2350, "referenceAllele": "C", "start": 2349 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245815.1:c.2116C>T" ], "proteinEffect": { "hgvs": "XP_005245872.1:p.Gln706Ter", "hgvsWellDefined": "XP_005245872.1:p.Gln706_Val1163delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057387" }, { "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "C", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710512.1:c.2098C>T" ], "proteinEffect": { "hgvs": "XP_006710575.1:p.Gln700Ter", "hgvsWellDefined": "XP_006710575.1:p.Gln700_Val1196delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068650" }, { "coordinates": [ { "allele": "T", "end": 2308, "referenceAllele": "C", "start": 2307 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710513.1:c.2074C>T" ], "proteinEffect": { "hgvs": "XP_006710576.1:p.Gln692Ter", "hgvsWellDefined": "XP_006710576.1:p.Gln692_Val1188delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068651" }, { "coordinates": [ { "allele": "T", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541128.1:c.2101C>T" ], "proteinEffect": { "hgvs": "XP_011539430.1:p.Gln701Ter", "hgvsWellDefined": "XP_011539430.1:p.Gln701_Val1197delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108071" }, { "coordinates": [ { "allele": "T", "end": 2143, "referenceAllele": "C", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541129.1:c.1909C>T" ], "proteinEffect": { "hgvs": "XP_011539431.1:p.Gln637Ter", "hgvsWellDefined": "XP_011539431.1:p.Gln637_Val1133delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108072" }, { "coordinates": [ { "allele": "T", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000844.1:c.2101C>T" ], "proteinEffect": { "hgvs": "XP_016856333.1:p.Gln701Ter", "hgvsWellDefined": "XP_016856333.1:p.Gln701_Arg1175delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557124" }, { "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "C", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000845.1:c.2098C>T" ], "proteinEffect": { "hgvs": "XP_016856334.1:p.Gln700Ter", "hgvsWellDefined": "XP_016856334.1:p.Gln700_Arg1174delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557125" }, { "coordinates": [ { "allele": "T", "end": 2308, "referenceAllele": "C", "start": 2307 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000846.1:c.2074C>T" ], "proteinEffect": { "hgvs": "XP_016856335.1:p.Gln692Ter", "hgvsWellDefined": "XP_016856335.1:p.Gln692_Arg1166delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557126" }, { "coordinates": [ { "allele": "T", "end": 2305, "referenceAllele": "C", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000847.1:c.2071C>T" ], "proteinEffect": { "hgvs": "XP_016856336.1:p.Gln691Ter", "hgvsWellDefined": "XP_016856336.1:p.Gln691_Arg1165delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557127" }, { "coordinates": [ { "allele": "T", "end": 2350, "referenceAllele": "C", "start": 2349 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000848.1:c.2116C>T" ], "proteinEffect": { "hgvs": "XP_016856337.1:p.Gln706Ter", "hgvsWellDefined": "XP_016856337.1:p.Gln706_Arg1141delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557128" }, { "coordinates": [ { "allele": "T", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000849.1:c.2101C>T" ], "proteinEffect": { "hgvs": "XP_016856338.1:p.Gln701Ter", "hgvsWellDefined": "XP_016856338.1:p.Gln701_Arg1136delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557129" }, { "coordinates": [ { "allele": "T", "end": 2143, "referenceAllele": "C", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000850.1:c.1909C>T" ], "proteinEffect": { "hgvs": "XP_016856339.1:p.Gln637Ter", "hgvsWellDefined": "XP_016856339.1:p.Gln637_Arg1111delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557130" }, { "@id": "http://reg.genome.network/allele/PA2499288748", "coordinates": [ { "allele": "T", "end": 2306, "referenceAllele": "C", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.4:c.2116C>T" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Gln706Ter", "hgvsWellDefined": "NP_071372.1:p.Gln706_Arg1180delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670368", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326735.13:c.2116C>T" }, "RefSeq": { "hgvs": "NM_022089.4:c.2116C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Gln706Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Gln706Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825835501", "coordinates": [ { "allele": "T", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.3:c.2101C>T" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Gln701Ter", "hgvsWellDefined": "NP_001135445.1:p.Gln701_Arg1175delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677479" }, { "@id": "http://reg.genome.network/allele/PA2825836913", "coordinates": [ { "allele": "T", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.3:c.2101C>T" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Gln701Ter", "hgvsWellDefined": "NP_001135446.1:p.Gln701_Val1158delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677480" } ], "type": "nucleotide" }