{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA636972", "communityStandardTitle": [ "NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2056696[alleleid]", "alleleId": 2056696, "preferredName": "NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1996186", "RCV": [ "RCV002819487" ], "variationId": 1996186 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-17318517-G-A", "id": "1-17318517-G-A", "variant": "1:17318517 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.17318517G>A?assembly=hg19", "id": "chr1:g.17318517G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.16992022G>A?assembly=hg38", "id": "chr1:g.16992022G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/774115028", "rs": 774115028 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-17318517-G-A?dataset=gnomad_r2_1", "id": "1-17318517-G-A", "variant": "1:17318517 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-16992022-G-A?dataset=gnomad_r4", "id": "1-16992022-G-A", "variant": "1:16992022 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 16992022, "referenceAllele": "G", "start": 16992021 } ], "hgvs": [ "NC_000001.11:g.16992022G>A", "CM000663.2:g.16992022G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17318517, "referenceAllele": "G", "start": 17318516 } ], "hgvs": [ "NC_000001.10:g.17318517G>A", "CM000663.1:g.17318517G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 17191104, "referenceAllele": "G", "start": 17191103 } ], "hgvs": [ "NC_000001.9:g.17191104G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 24907, "referenceAllele": "C", "start": 24906 } ], "hgvs": [ "NG_009054.1:g.24907C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001396" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2303, "referenceAllele": "C", "start": 2302 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.13:c.2113C>T" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Gln705Ter", "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.2113C>T" }, "RefSeq": { "hgvs": "NM_022089.4:c.2113C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Gln705Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Gln705Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2147, "referenceAllele": "C", "start": 2146 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000326735.12:c.2113C>T" ], "proteinEffect": { "hgvs": "ENSP00000327214.8:p.Gln705Ter", "hgvsWellDefined": "ENSP00000327214.8:p.Gln706_Arg1180delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258661" }, { "coordinates": [ { "allele": "T", "end": 2275, "referenceAllele": "C", "start": 2274 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000341676.9:c.2098C>T" ], "proteinEffect": { "hgvs": "ENSP00000341115.5:p.Gln700Ter", "hgvsWellDefined": "ENSP00000341115.5:p.Gln701_Val1158delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261383" }, { "coordinates": [ { "allele": "T", "end": 2288, "referenceAllele": "C", "start": 2287 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000452699.5:c.2098C>T" ], "proteinEffect": { "hgvs": "ENSP00000413307.1:p.Gln700Ter", "hgvsWellDefined": "ENSP00000413307.1:p.Gln701_Arg1175delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301738" }, { "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "ENST00000503552.1:c.523C>T" ], "proteinEffect": { "hgvs": "ENSP00000421126.1:p.Gln175Ter", "hgvsWellDefined": "ENSP00000421126.1:p.Gln175_Ser258del" }, "referenceSequence": "http://reg.genome.network/refseq/RS335833" }, { "@id": "http://reg.genome.network/allele/PA2825835500", "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "C", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.2:c.2098C>T" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Gln700Ter", "hgvsWellDefined": "NP_001135445.1:p.Gln701_Arg1175delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012784" }, { "@id": "http://reg.genome.network/allele/PA2825836908", "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "C", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.2:c.2098C>T" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Gln700Ter", "hgvsWellDefined": "NP_001135446.1:p.Gln701_Val1158delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012785" }, { "@id": "http://reg.genome.network/allele/PA2580448032", "coordinates": [ { "allele": "T", "end": 2347, "referenceAllele": "C", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.3:c.2113C>T" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Gln705Ter", "hgvsWellDefined": "NP_071372.1:p.Gln706_Arg1180delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037187" }, { "coordinates": [ { "allele": "T", "end": 2347, "referenceAllele": "C", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245809.1:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_005245866.1:p.Gln705Ter", "hgvsWellDefined": "XP_005245866.1:p.Gln706_Val1202delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057382" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "C", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245810.1:c.2110C>T" ], "proteinEffect": { "hgvs": "XP_005245867.1:p.Gln704Ter", "hgvsWellDefined": "XP_005245867.1:p.Gln705_Val1201delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057383" }, { "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "C", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245811.1:c.2098C>T" ], "proteinEffect": { "hgvs": "XP_005245868.1:p.Gln700Ter", "hgvsWellDefined": "XP_005245868.1:p.Gln701_Val1197delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057384" }, { "coordinates": [ { "allele": "T", "end": 2320, "referenceAllele": "C", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245812.1:c.2086C>T" ], "proteinEffect": { "hgvs": "XP_005245869.1:p.Gln696Ter", "hgvsWellDefined": "XP_005245869.1:p.Gln697_Val1193delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057385" }, { "coordinates": [ { "allele": "T", "end": 2287, "referenceAllele": "C", "start": 2286 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245813.1:c.2053C>T" ], "proteinEffect": { "hgvs": "XP_005245870.1:p.Gln685Ter", "hgvsWellDefined": "XP_005245870.1:p.Gln686_Val1182delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057386" }, { "coordinates": [ { "allele": "T", "end": 2347, "referenceAllele": "C", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_005245815.1:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_005245872.1:p.Gln705Ter", "hgvsWellDefined": "XP_005245872.1:p.Gln706_Val1163delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057387" }, { "coordinates": [ { "allele": "T", "end": 2329, "referenceAllele": "C", "start": 2328 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710512.1:c.2095C>T" ], "proteinEffect": { "hgvs": "XP_006710575.1:p.Gln699Ter", "hgvsWellDefined": "XP_006710575.1:p.Gln700_Val1196delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068650" }, { "coordinates": [ { "allele": "T", "end": 2305, "referenceAllele": "C", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_006710513.1:c.2071C>T" ], "proteinEffect": { "hgvs": "XP_006710576.1:p.Gln691Ter", "hgvsWellDefined": "XP_006710576.1:p.Gln692_Val1188delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068651" }, { "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "C", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541128.1:c.2098C>T" ], "proteinEffect": { "hgvs": "XP_011539430.1:p.Gln700Ter", "hgvsWellDefined": "XP_011539430.1:p.Gln701_Val1197delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108071" }, { "coordinates": [ { "allele": "T", "end": 2140, "referenceAllele": "C", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_011541129.1:c.1906C>T" ], "proteinEffect": { "hgvs": "XP_011539431.1:p.Gln636Ter", "hgvsWellDefined": "XP_011539431.1:p.Gln637_Val1133delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108072" }, { "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "C", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000844.1:c.2098C>T" ], "proteinEffect": { "hgvs": "XP_016856333.1:p.Gln700Ter", "hgvsWellDefined": "XP_016856333.1:p.Gln701_Arg1175delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557124" }, { "coordinates": [ { "allele": "T", "end": 2329, "referenceAllele": "C", "start": 2328 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000845.1:c.2095C>T" ], "proteinEffect": { "hgvs": "XP_016856334.1:p.Gln699Ter", "hgvsWellDefined": "XP_016856334.1:p.Gln700_Arg1174delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557125" }, { "coordinates": [ { "allele": "T", "end": 2305, "referenceAllele": "C", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000846.1:c.2071C>T" ], "proteinEffect": { "hgvs": "XP_016856335.1:p.Gln691Ter", "hgvsWellDefined": "XP_016856335.1:p.Gln692_Arg1166delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557126" }, { "coordinates": [ { "allele": "T", "end": 2302, "referenceAllele": "C", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000847.1:c.2068C>T" ], "proteinEffect": { "hgvs": "XP_016856336.1:p.Gln690Ter", "hgvsWellDefined": "XP_016856336.1:p.Gln691_Arg1165delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557127" }, { "coordinates": [ { "allele": "T", "end": 2347, "referenceAllele": "C", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000848.1:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_016856337.1:p.Gln705Ter", "hgvsWellDefined": "XP_016856337.1:p.Gln706_Arg1141delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557128" }, { "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "C", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000849.1:c.2098C>T" ], "proteinEffect": { "hgvs": "XP_016856338.1:p.Gln700Ter", "hgvsWellDefined": "XP_016856338.1:p.Gln701_Arg1136delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557129" }, { "coordinates": [ { "allele": "T", "end": 2140, "referenceAllele": "C", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "XM_017000850.1:c.1906C>T" ], "proteinEffect": { "hgvs": "XP_016856339.1:p.Gln636Ter", "hgvsWellDefined": "XP_016856339.1:p.Gln637_Arg1111delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557130" }, { "@id": "http://reg.genome.network/allele/PA2580448032", "coordinates": [ { "allele": "T", "end": 2303, "referenceAllele": "C", "start": 2302 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_022089.4:c.2113C>T" ], "proteinEffect": { "hgvs": "NP_071372.1:p.Gln705Ter", "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.2113C>T" }, "RefSeq": { "hgvs": "NM_022089.4:c.2113C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327214.8:p.Gln705Ter" }, "RefSeq": { "hgvs": "NP_071372.1:p.Gln705Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825835500", "coordinates": [ { "allele": "T", "end": 2288, "referenceAllele": "C", "start": 2287 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141973.3:c.2098C>T" ], "proteinEffect": { "hgvs": "NP_001135445.1:p.Gln700Ter", "hgvsWellDefined": "NP_001135445.1:p.Gln701_Arg1175delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysAspProAspGlnAlaAlaSerTyrThrValGluProAspProArgSerArgHisLeuAlaLeuSerGlyProThrPheGlyIleIleValLysHisPheProLysLeuLeuProLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677479" }, { "@id": "http://reg.genome.network/allele/PA2825836908", "coordinates": [ { "allele": "T", "end": 2288, "referenceAllele": "C", "start": 2287 } ], "gene": "http://reg.genome.network/gene/GN030213", "geneNCBI_id": 23400, "geneSymbol": "ATP13A2", "hgvs": [ "NM_001141974.3:c.2098C>T" ], "proteinEffect": { "hgvs": "NP_001135446.1:p.Gln700Ter", "hgvsWellDefined": "NP_001135446.1:p.Gln701_Val1158delinsLeuThrArgAspThrValGluGlyAspLeuSerLeuLeuGlyLeuLeuValMetArgAsnLeuLeuLysProGlnThrThrProValIleGlnAlaLeuArgArgThrArgIleArgAlaValMetValThrGlyAspAsnLeuGlnThrAlaValThrValAlaArgGlyCysGlyMetValAlaProGlnGluHisLeuIleIleValHisAlaThrHisProGluArgGlyGlnProAlaSerLeuGluPheLeuProMetGluSerProThrAlaValAsnGlyValLysValLeuValGlnGlyThrValPheAlaArgMetAlaProGluGlnLysThrGluLeuValCysGluLeuGlnLysLeuGlnTyrCysValGlyMetCysGlyAspGlyAlaAsnAspCysGlyAlaLeuLysAlaAlaAspValGlyIleSerLeuSerGlnAlaGluAlaSerValValSerProPheThrSerSerMetAlaSerIleGluCysValProMetValIleArgGluGlyArgCysSerLeuAspThrSerPheSerValPheLysTyrMetAlaLeuTyrSerLeuThrGlnPheIleSerValLeuIleLeuTyrThrIleAsnThrAsnLeuGlyAspLeuGlnPheLeuAlaIleAspLeuValIleThrThrThrValAlaValLeuMetSerArgThrGlyProAlaLeuValLeuGlyArgValArgProProGlyAlaLeuLeuSerValProValLeuSerSerLeuLeuLeuGlnMetValLeuValThrGlyValGlnLeuGlyGlyTyrPheLeuThrLeuAlaGlnProTrpPheValProLeuAsnArgThrValAlaAlaProAspAsnLeuProAsnTyrGluAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677480" } ], "type": "nucleotide" }