{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412994696", "communityStandardTitle": [ "NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=430790[alleleid]", "alleleId": 430790, "preferredName": "NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/434588", "RCV": [ "RCV000502372", "RCV000656243", "RCV000763625" ], "variationId": 434588 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.41495900G>C?assembly=hg19", "id": "chrX:g.41495900G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.41636647G>C?assembly=hg38", "id": "chrX:g.41636647G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886128077", "rs": 886128077 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 41636647, "referenceAllele": "G", "start": 41636646 } ], "hgvs": [ "NC_000023.11:g.41636647G>C", "CM000685.2:g.41636647G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 41495900, "referenceAllele": "G", "start": 41495899 } ], "hgvs": [ "NC_000023.10:g.41495900G>C", "CM000685.1:g.41495900G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 41380844, "referenceAllele": "G", "start": 41380843 } ], "hgvs": [ "NC_000023.9:g.41380844G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "G", "end": 291388, "referenceAllele": "C", "start": 291387 } ], "hgvs": [ "NG_016754.1:g.291388C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003279" }, { "coordinates": [ { "allele": "G", "end": 291388, "referenceAllele": "C", "start": 291387 } ], "hgvs": [ "NG_016754.2:g.291388C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS673688" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000378154.3:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000367396.2:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000367396.2:p.Tyr282_Tyr909delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752035" }, { "coordinates": [ { "allele": "G", "end": 1002, "referenceAllele": "C", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000378158.6:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000367400.2:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000367400.2:p.Tyr282_Tyr908delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752037" }, { "coordinates": [ { "allele": "G", "end": 1412, "referenceAllele": "C", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000378163.7:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000367405.1:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000367405.1:p.Tyr282_Tyr926delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752038", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378163.7:c.846C>G" }, "RefSeq": { "hgvs": "NM_001367721.1:c.846C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367405.1:p.Tyr282Ter" }, "RefSeq": { "hgvs": "NP_001354650.1:p.Tyr282Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 888, "referenceAllele": "C", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000378166.9:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000367408.5:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000367408.5:p.Tyr282_Tyr892delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752041" }, { "coordinates": [ { "allele": "G", "end": 1393, "referenceAllele": "C", "start": 1392 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000378168.8:c.864C>G" ], "proteinEffect": { "hgvs": "ENSP00000367410.4:p.Tyr288Ter", "hgvsWellDefined": "ENSP00000367410.4:p.Tyr288_Tyr927delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752042" }, { "coordinates": [ { "allele": "G", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000421587.8:c.864C>G" ], "proteinEffect": { "hgvs": "ENSP00000400526.4:p.Tyr288Ter", "hgvsWellDefined": "ENSP00000400526.4:p.Tyr288_Tyr903delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754888" }, { "coordinates": [ { "allele": "G", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000442742.7:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000398007.3:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000398007.3:p.Tyr282_Tyr880delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755923" }, { "coordinates": [ { "allele": "G", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000643043.2:c.291C>G" ], "proteinEffect": { "hgvs": "ENSP00000493518.2:p.Tyr97Ter", "hgvsWellDefined": "ENSP00000493518.2:p.Tyr97_Glu394del" }, "referenceSequence": "http://reg.genome.network/refseq/RS767058" }, { "coordinates": [ { "allele": "G", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000643831.2:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000494388.2:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000494388.2:p.Tyr282Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767497" }, { "coordinates": [ { "allele": "G", "end": 560, "referenceAllele": "C", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000643853.1:n.560C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767508" }, { "coordinates": [ { "allele": "G", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000644219.1:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000495357.1:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000495357.1:p.Tyr282_Tyr920delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767705" }, { "coordinates": [ { "allele": "G", "end": 1027, "referenceAllele": "C", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000644347.1:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000494183.1:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000494183.1:p.Tyr282_Tyr897delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767772" }, { "coordinates": [ { "allele": "G", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000645566.1:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000494788.1:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000494788.1:p.Tyr282_Tyr921delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768431" }, { "coordinates": [ { "allele": "G", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000645986.2:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000494409.2:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000494409.2:p.Tyr282_Tyr955delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnGlyLeuGluLysSerSerGlyGlnGlyTrpLeuGluAlaLysSerGlnSerTrpSerTrpSerSerThrSerSerProTrpValProHisTrpSerSerProGluArgArgPheLeuLeuAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768639" }, { "coordinates": [ { "allele": "G", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000646087.2:c.291C>G" ], "proteinEffect": { "hgvs": "ENSP00000495510.2:p.Tyr97Ter", "hgvsWellDefined": "ENSP00000495510.2:p.Tyr97_Tyr700delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768686" }, { "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000646120.2:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000495291.2:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000495291.2:p.Tyr282_Tyr898delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768711" }, { "coordinates": [ { "allele": "G", "end": 1393, "referenceAllele": "C", "start": 1392 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000675354.1:c.864C>G" ], "proteinEffect": { "hgvs": "ENSP00000502315.1:p.Tyr288Ter", "hgvsWellDefined": "ENSP00000502315.1:p.Tyr288_Tyr904delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775184" }, { "coordinates": [ { "allele": "G", "end": 1321, "referenceAllele": "C", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000378154.1:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000367396.1:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000367396.1:p.Tyr282_Leu590delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluValMetThrLeuThrAsnHisProHisLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271909" }, { "coordinates": [ { "allele": "G", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000378158.5:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000367400.1:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000367400.1:p.Tyr282_Tyr909delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271911" }, { "coordinates": [ { "allele": "G", "end": 1321, "referenceAllele": "C", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000378163.5:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000367405.1:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000367405.1:p.Tyr282_Tyr926delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271913" }, { "coordinates": [ { "allele": "G", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000378166.8:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000367408.4:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000367408.4:p.Tyr282_Tyr921delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271916" }, { "coordinates": [ { "allele": "G", "end": 870, "referenceAllele": "C", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000421587.6:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000400526.2:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000400526.2:p.Tyr282_Tyr897delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286870" }, { "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000442742.6:c.846C>G" ], "proteinEffect": { "hgvs": "ENSP00000398007.2:p.Tyr282Ter", "hgvsWellDefined": "ENSP00000398007.2:p.Tyr282_Tyr898delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS297021" }, { "coordinates": [ { "allele": "G", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "ENST00000469265.1:n.293C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS311991" }, { "@id": "http://reg.genome.network/allele/PA2825592763", "coordinates": [ { "allele": "G", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "NM_001126054.2:c.846C>G" ], "proteinEffect": { "hgvs": "NP_001119526.1:p.Tyr282Ter", "hgvsWellDefined": "NP_001119526.1:p.Tyr282_Tyr898delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011474" }, { "@id": "http://reg.genome.network/allele/PA2825593429", "coordinates": [ { "allele": "G", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "NM_001126055.2:c.846C>G" ], "proteinEffect": { "hgvs": "NP_001119527.1:p.Tyr282Ter", "hgvsWellDefined": "NP_001119527.1:p.Tyr282_Tyr897delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011475" }, { "@id": "http://reg.genome.network/allele/PA645471070", "coordinates": [ { "allele": "G", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "NM_003688.3:c.846C>G" ], "proteinEffect": { "hgvs": "NP_003679.2:p.Tyr282Ter", "hgvsWellDefined": "NP_003679.2:p.Tyr282_Tyr921delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028915" }, { "coordinates": [ { "allele": "G", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_005272686.3:c.846C>G" ], "proteinEffect": { "hgvs": "XP_005272743.1:p.Tyr282Ter", "hgvsWellDefined": "XP_005272743.1:p.Tyr282_Tyr920delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067339" }, { "coordinates": [ { "allele": "G", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_006724566.2:c.846C>G" ], "proteinEffect": { "hgvs": "XP_006724629.1:p.Tyr282Ter", "hgvsWellDefined": "XP_006724629.1:p.Tyr282_Tyr885delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075589" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_011543993.1:c.864C>G" ], "proteinEffect": { "hgvs": "XP_011542295.1:p.Tyr288Ter", "hgvsWellDefined": "XP_011542295.1:p.Tyr288_Tyr926delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110906" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_011543994.1:c.864C>G" ], "proteinEffect": { "hgvs": "XP_011542296.1:p.Tyr288Ter", "hgvsWellDefined": "XP_011542296.1:p.Tyr288_Tyr914delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110907" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_011543995.1:c.864C>G" ], "proteinEffect": { "hgvs": "XP_011542297.1:p.Tyr288Ter", "hgvsWellDefined": "XP_011542297.1:p.Tyr288_Tyr903delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110908" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_011543996.1:c.864C>G" ], "proteinEffect": { "hgvs": "XP_011542298.1:p.Tyr288Ter", "hgvsWellDefined": "XP_011542298.1:p.Tyr288_Tyr891delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110909" }, { "coordinates": [ { "allele": "G", "end": 418, "referenceAllele": "C", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_011543997.1:c.291C>G" ], "proteinEffect": { "hgvs": "XP_011542299.1:p.Tyr97Ter", "hgvsWellDefined": "XP_011542299.1:p.Tyr97_Tyr735delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110910" }, { "coordinates": [ { "allele": "G", "end": 1383, "referenceAllele": "C", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_005272686.4:c.846C>G" ], "proteinEffect": { "hgvs": "XP_005272743.1:p.Tyr282Ter", "hgvsWellDefined": "XP_005272743.1:p.Tyr282_Tyr920delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537346" }, { "coordinates": [ { "allele": "G", "end": 1383, "referenceAllele": "C", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_006724566.3:c.846C>G" ], "proteinEffect": { "hgvs": "XP_006724629.1:p.Tyr282Ter", "hgvsWellDefined": "XP_006724629.1:p.Tyr282_Tyr885delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541005" }, { "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_011543993.2:c.864C>G" ], "proteinEffect": { "hgvs": "XP_011542295.1:p.Tyr288Ter", "hgvsWellDefined": "XP_011542295.1:p.Tyr288_Tyr926delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555459" }, { "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_011543994.2:c.864C>G" ], "proteinEffect": { "hgvs": "XP_011542296.1:p.Tyr288Ter", "hgvsWellDefined": "XP_011542296.1:p.Tyr288_Tyr914delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555460" }, { "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_011543995.2:c.864C>G" ], "proteinEffect": { "hgvs": "XP_011542297.1:p.Tyr288Ter", "hgvsWellDefined": "XP_011542297.1:p.Tyr288_Tyr903delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555461" }, { "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_011543996.2:c.864C>G" ], "proteinEffect": { "hgvs": "XP_011542298.1:p.Tyr288Ter", "hgvsWellDefined": "XP_011542298.1:p.Tyr288_Tyr891delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555462" }, { "coordinates": [ { "allele": "G", "end": 619, "referenceAllele": "C", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_011543997.3:c.291C>G" ], "proteinEffect": { "hgvs": "XP_011542299.1:p.Tyr97Ter", "hgvsWellDefined": "XP_011542299.1:p.Tyr97_Tyr735delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555463" }, { "coordinates": [ { "allele": "G", "end": 606, "referenceAllele": "C", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "XM_024452473.1:c.291C>G" ], "proteinEffect": { "hgvs": "XP_024308241.1:p.Tyr97Ter", "hgvsWellDefined": "XP_024308241.1:p.Tyr97_Tyr700delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585966" }, { "@id": "http://reg.genome.network/allele/PA2828271008", "coordinates": [ { "allele": "G", "end": 1412, "referenceAllele": "C", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN001497", "geneNCBI_id": 8573, "geneSymbol": "CASK", "hgvs": [ "NM_001367721.1:c.846C>G" ], "proteinEffect": { "hgvs": "NP_001354650.1:p.Tyr282Ter", "hgvsWellDefined": "NP_001354650.1:p.Tyr282_Tyr926delinsAlaTyrLysIleHisLeuProGluThrValGluGlnLeuArgLysPheAsnAlaArgArgLysLeuLysGlyAlaValLeuAlaAlaValSerSerHisLysPheAsnSerPheTyrGlyAspProProGluGluLeuProAspPheSerGluAspProThrSerSerGlyLeuLeuAlaAlaGluArgAlaValSerGlnValLeuAspSerLeuGluGluIleHisAlaLeuThrAspCysSerGluLysAspLeuAspPheLeuHisSerValPheGlnAspGlnHisLeuHisThrLeuLeuAspLeuTyrAspLysIleAsnThrLysSerSerProGlnIleArgAsnProProSerAspAlaValGlnArgAlaLysGluValLeuGluGluIleSerCysTyrProGluAsnAsnAspAlaLysGluLeuLysArgIleLeuThrGlnProHisPheMetAlaLeuLeuGlnThrHisAspValValAlaHisGluValTyrSerAspGluAlaLeuArgValThrProProProThrSerProTyrLeuAsnGlyAspSerProGluSerAlaAsnGlyAspMetAspMetGluAsnValThrArgValArgLeuValGlnPheGlnLysAsnThrAspGluProMetGlyIleThrLeuLysMetAsnGluLeuAsnHisCysIleValAlaArgIleMetHisGlyGlyMetIleHisArgGlnGlyThrLeuHisValGlyAspGluIleArgGluIleAsnGlyIleSerValAlaAsnGlnThrValGluGlnLeuGlnLysMetLeuArgGluMetArgGlySerIleThrPheLysIleValProSerTyrArgThrGlnSerSerSerCysGluArgAspSerProSerThrSerArgGlnSerProAlaAsnGlyHisSerSerThrAsnAsnSerValSerAspLeuProSerThrThrGlnProLysGlyArgGlnIleTyrValArgAlaGlnPheGluTyrAspProAlaLysAspAspLeuIleProCysLysGluAlaGlyIleArgPheArgValGlyAspIleIleGlnIleIleSerLysAspAspHisAsnTrpTrpGlnGlyLysLeuGluAsnSerLysAsnGlyThrAlaGlyLeuIleProSerProGluLeuGlnGluTrpArgValAlaCysIleAlaMetGluLysThrLysGlnGluGlnGlnAlaSerCysThrTrpPheGlyLysLysLysLysGlnTyrLysAspLysTyrLeuAlaLysHisAsnAlaValPheAspGlnLeuAspLeuValThrTyrGluGluValValLysLeuProAlaPheLysArgLysThrLeuValLeuLeuGlyAlaHisGlyValGlyArgArgHisIleLysAsnThrLeuIleThrLysHisProAspArgPheAlaTyrProIleProHisThrThrArgProProLysLysAspGluGluAsnGlyLysAsnTyrTyrPheValSerHisAspGlnMetMetGlnAspIleSerAsnAsnGluTyrLeuGluTyrGlySerHisGluAspAlaMetTyrGlyThrLysLeuGluThrIleArgLysIleHisGluGlnGlyLeuIleAlaIleLeuAspValGluProGlnAlaLeuLysValLeuArgThrAlaGluPheAlaProPheValValPheIleAlaAlaProThrIleThrProGlyLeuAsnGluAspGluSerLeuGlnArgLeuGlnLysGluSerAspIleLeuGlnArgThrTyrAlaHisTyrPheAspLeuThrIleIleAsnAsnGluIleAspGluThrIleArgHisLeuGluGluAlaValGluLeuValCysThrAlaProGlnTrpValProValSerTrpValTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664787", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378163.7:c.846C>G" }, "RefSeq": { "hgvs": "NM_001367721.1:c.846C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367405.1:p.Tyr282Ter" }, "RefSeq": { "hgvs": "NP_001354650.1:p.Tyr282Ter" } } } } ], "type": "nucleotide" }