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"ENSP00000216194.8:p.Gln198_Leu498delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247967" }, { "coordinates": [ { "allele": "T", "end": 606, "referenceAllele": "C", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000342312.9:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000341429.6:p.Gln184Ter", "hgvsWellDefined": "ENSP00000341429.6:p.Gln184_Leu425delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261527" }, { "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "C", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000477111.2:n.455C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318005" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623063.3:c.550C>T" ], "proteinEffect": { "hgvs": "ENSP00000485525.1:p.Gln184Ter", "hgvsWellDefined": "ENSP00000485525.1:p.Gln184_Leu484delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405987", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623063.3:c.550C>T" }, "RefSeq": { "hgvs": "NM_000026.4:c.550C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485525.1:p.Gln184Ter" }, "RefSeq": { "hgvs": "NP_000017.1:p.Gln184Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623287.3:c.425C>T" ], "proteinEffect": { "hgvs": "ENSP00000485437.1:p.Pro142Leu", "hgvsWellDefined": "ENSP00000485437.1:p.Pro142Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS406041" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623632.3:c.505C>T" ], "proteinEffect": { "hgvs": "ENSP00000485288.1:p.Gln169Ter", "hgvsWellDefined": "ENSP00000485288.1:p.Gln169Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS406133" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623978.3:c.10C>T" ], "proteinEffect": { "hgvs": "ENSP00000485477.1:p.Gln4Ter", "hgvsWellDefined": "ENSP00000485477.1:p.Gln4_Leu134del" }, "referenceSequence": "http://reg.genome.network/refseq/RS406222" }, { "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "C", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000624474.1:c.470C>T" ], "proteinEffect": { "hgvs": "ENSP00000485286.1:p.Pro157Leu", "hgvsWellDefined": "ENSP00000485286.1:p.Pro157Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS406339" }, { "coordinates": [ { "allele": "T", "end": 137, "referenceAllele": "C", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000625194.3:c.137C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406535" }, { "@id": "http://reg.genome.network/allele/PA891844720", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.2:c.550C>T" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Gln184Ter", "hgvsWellDefined": "NP_000017.1:p.Gln184_Leu484delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006091" }, { "@id": "http://reg.genome.network/allele/PA2825589823", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.1:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001116850.1:p.Gln184Ter", "hgvsWellDefined": "NP_001116850.1:p.Gln184_Leu425delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011454" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529976.1:c.550C>T" ], "proteinEffect": { "hgvs": "XP_011528278.1:p.Gln184Ter", "hgvsWellDefined": "XP_011528278.1:p.Gln184_Lys573delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysIleAlaCysTyrSerAlaGlyAspValSerAsnPheProGlnGlnProPheMetSerSerCysArgLeuSerGlnGlyAsnGlyAsnSerThrMetSerValThrGluGluLysLysIleLeuPheLeuCysHisHisIleLeuTyrThrAspLeuGlyAsnLeuAspTrpSerThrArgTyrValGlyGlyValArgThrProLeuLeuProValValIleIleIleGluThrThrTyrTrpMetProSerAlaTyrGlnThrLeuValValThrGlyHisCysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097035" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529977.1:c.550C>T" ], "proteinEffect": { "hgvs": "XP_011528279.1:p.Gln184Ter", "hgvsWellDefined": "XP_011528279.1:p.Gln184_Ser526delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097036" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529978.1:c.550C>T" ], "proteinEffect": { "hgvs": "XP_011528280.1:p.Gln184Ter", "hgvsWellDefined": "XP_011528280.1:p.Gln184_Lys514delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysIleAlaCysTyrSerAlaGlyAspValSerAsnPheProGlnGlnProPheMetSerSerCysArgLeuSerGlnGlyAsnGlyAsnSerThrMetSerValThrGluGluLysLysIleLeuPheLeuCysHisHisIleLeuTyrThrAspLeuGlyAsnLeuAspTrpSerThrArgTyrValGlyGlyValArgThrProLeuLeuProValValIleIleIleGluThrThrTyrTrpMetProSerAlaTyrGlnThrLeuValValThrGlyHisCysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097037" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529979.1:c.550C>T" ], "proteinEffect": { "hgvs": "XP_011528281.1:p.Gln184Ter", "hgvsWellDefined": "XP_011528281.1:p.Gln184_Phe480delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097038" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529980.1:c.550C>T" ], "proteinEffect": { "hgvs": "XP_011528282.1:p.Gln184Ter", "hgvsWellDefined": "XP_011528282.1:p.Gln184_Ser467delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097039" }, { "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529981.1:c.85C>T" ], "proteinEffect": { "hgvs": "XP_011528283.1:p.Gln29Ter", "hgvsWellDefined": "XP_011528283.1:p.Gln29_Lys418delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysIleAlaCysTyrSerAlaGlyAspValSerAsnPheProGlnGlnProPheMetSerSerCysArgLeuSerGlnGlyAsnGlyAsnSerThrMetSerValThrGluGluLysLysIleLeuPheLeuCysHisHisIleLeuTyrThrAspLeuGlyAsnLeuAspTrpSerThrArgTyrValGlyGlyValArgThrProLeuLeuProValValIleIleIleGluThrThrTyrTrpMetProSerAlaTyrGlnThrLeuValValThrGlyHisCysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097040" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937824.1:n.609C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132626" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937825.1:n.609C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132627" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937826.1:n.609C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132628" }, { "@id": "http://reg.genome.network/allele/PA891844720", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.3:c.550C>T" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Gln184Ter", "hgvsWellDefined": "NP_000017.1:p.Gln184_Leu484delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510737" }, { "@id": "http://reg.genome.network/allele/PA2825589823", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.2:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001116850.1:p.Gln184Ter", "hgvsWellDefined": "NP_001116850.1:p.Gln184_Leu425delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511387" }, { "@id": "http://reg.genome.network/allele/PA2826972202", "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.1:c.358C>T" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Gln120Ter", "hgvsWellDefined": "NP_001304852.1:p.Gln120_Leu420delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS512598" }, { "@id": "http://reg.genome.network/allele/PA916044458", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.1:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Gln184Ter", "hgvsWellDefined": "NP_001350769.1:p.Gln184_Phe480delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523595" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NR_134256.1:n.609C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS527496" }, { "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529977.3:c.550C>T" ], "proteinEffect": { "hgvs": "XP_011528279.1:p.Gln184Ter", "hgvsWellDefined": "XP_011528279.1:p.Gln184_Ser526delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549749" }, { "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529980.3:c.550C>T" ], "proteinEffect": { "hgvs": "XP_011528282.1:p.Gln184Ter", "hgvsWellDefined": "XP_011528282.1:p.Gln184_Ser467delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549750" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028636.1:c.505C>T" ], "proteinEffect": { "hgvs": "XP_016884125.1:p.Gln169Ter", "hgvsWellDefined": "XP_016884125.1:p.Gln169_Ser511delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578329" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028637.1:c.505C>T" ], "proteinEffect": { "hgvs": "XP_016884126.1:p.Gln169Ter", "hgvsWellDefined": "XP_016884126.1:p.Gln169_Leu469delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578330" }, { "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028638.1:c.85C>T" ], "proteinEffect": { "hgvs": "XP_016884127.1:p.Gln29Ter", "hgvsWellDefined": "XP_016884127.1:p.Gln29_Ser371delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysCysLysGlnValProLeuAspLysAsnValValCysValIleProCysCysIleSerAsnSerLysSerThrSerAspThrTrpGlnLeuGlySerLeuProAlaSerAlaThrAlaProAspPheLeuValAlaTrpIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578331" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028639.2:c.85C>T" ], "proteinEffect": { "hgvs": "XP_016884128.1:p.Gln29Ter", "hgvsWellDefined": "XP_016884128.1:p.Gln29_Leu329delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578332" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_024452166.1:c.505C>T" ], "proteinEffect": { "hgvs": "XP_024307934.1:p.Gln169Ter", "hgvsWellDefined": "XP_024307934.1:p.Gln169_Leu410delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585664" }, { "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_001755176.2:n.607C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS601039" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_002958670.1:n.546C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604795" }, { "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_002958671.1:n.607C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604796" }, { "coordinates": [ { "allele": "T", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937825.3:n.607C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611738" }, { "@id": "http://reg.genome.network/allele/PA891844720", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.4:c.550C>T" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Gln184Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS662289", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623063.3:c.550C>T" }, "RefSeq": { "hgvs": "NM_000026.4:c.550C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485525.1:p.Gln184Ter" }, "RefSeq": { "hgvs": "NP_000017.1:p.Gln184Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916044458", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.2:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Gln184Ter", "hgvsWellDefined": "NP_001350769.1:p.Gln184_Phe480delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690783" }, { "@id": "http://reg.genome.network/allele/PA2825589823", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.3:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001116850.1:p.Gln184Ter", "hgvsWellDefined": "NP_001116850.1:p.Gln184_Leu425delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712166" }, { "@id": "http://reg.genome.network/allele/PA2826972202", "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.2:c.358C>T" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Gln120Ter", "hgvsWellDefined": "NP_001304852.1:p.Gln120_Leu420delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValLysAlaGluLeuCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717463" }, { "@id": "http://reg.genome.network/allele/PA916044458", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.3:c.550C>T" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Gln184Ter", "hgvsWellDefined": "NP_001350769.1:p.Gln184_Phe480delinsAsnLeuLysArgValArgAspAspLeuArgPheArgGlyValLysGlyThrThrGlyThrGlnAlaSerPheLeuGlnLeuPheGluGlyAspAspHisLysValGluGlnLeuAspLysMetValThrGluLysAlaGlyPheLysArgAlaPheIleIleThrGlyGlnThrTyrThrArgLysValAspIleGluValLeuSerValLeuAlaSerLeuGlyAlaSerValHisLysIleCysThrAspIleArgLeuLeuAlaAsnLeuLysGluMetGluGluProPheGluLysGlnGlnIleGlySerSerAlaMetProTyrLysArgAsnProMetArgSerGluArgCysCysSerLeuAlaArgHisLeuMetThrLeuValMetAspProLeuGlnThrAlaSerValGlnTrpPheGluArgThrLeuAspAspSerAlaAsnArgArgIleCysLeuAlaGluAlaPheLeuThrAlaAspThrIleLeuAsnThrLeuGlnAsnIleSerGluGlyLeuValValTyrProLysValIleGluArgArgIleArgGlnGluLeuProPheMetAlaThrGluAsnIleIleMetAlaMetValLysAlaGlyGlySerArgGlnAspCysHisGluLysIleArgValLeuSerGlnGlnAlaAlaSerValValLysGlnGluGlyGlyAspAsnAspLeuIleGluArgIleGlnValAspAlaTyrPheSerProIleHisSerGlnLeuAspHisLeuLeuAspProSerSerPheThrGlyArgAlaSerGlnGlnValGlnArgPheLeuGluGluGluValTyrProLeuLeuLysProTyrGluSerValMetLysValSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720801" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NR_134256.2:n.609C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730851" } ], "type": "nucleotide" }