{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA325662", "communityStandardTitle": [ "NM_020297.4(ABCC9):c.2554C>T (p.Gln852Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44294[alleleid]", "alleleId": 44294, "preferredName": "NM_020297.4(ABCC9):c.2554C>T (p.Gln852Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35629", "RCV": [ "RCV000029276", "RCV000795388" ], "variationId": 35629 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-22005391-G-A", "id": "12-22005391-G-A", "variant": "12:22005391 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.22005391G>A?assembly=hg19", "id": "chr12:g.22005391G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.21852457G>A?assembly=hg38", "id": "chr12:g.21852457G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/193922683", "rs": 193922683 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-22005391-G-A?dataset=gnomad_r2_1", "id": "12-22005391-G-A", "variant": "12:22005391 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-21852457-G-A?dataset=gnomad_r4", "id": "12-21852457-G-A", "variant": "12:21852457 G / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 21852457, "referenceAllele": "G", "start": 21852456 } ], "hgvs": [ "NC_000012.12:g.21852457G>A", "CM000674.2:g.21852457G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 22005391, "referenceAllele": "G", "start": 22005390 } ], "hgvs": [ "NC_000012.11:g.22005391G>A", "CM000674.1:g.22005391G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 21896658, "referenceAllele": "G", "start": 21896657 } ], "hgvs": [ "NC_000012.10:g.21896658G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 89238, "referenceAllele": "C", "start": 89237 } ], "hgvs": [ "NG_012819.1:g.89238C>T", "LRG_377:g.89238C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002552" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2917, "referenceAllele": "C", "start": 2916 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000261201.10:c.2554C>T" ], "proteinEffect": { "hgvs": "ENSP00000261201.4:p.Gln852Ter", "hgvsWellDefined": "ENSP00000261201.4:p.Gln852_Lys1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValSerSerIleMetAspAlaGlyLeuValLeuValPheSerGluGlyIleLeuValGluCysAspThrValProAsnLeuLeuAlaHisLysAsnGlyLeuPheSerThrLeuValMetThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS823620" }, { "coordinates": [ { "allele": "T", "end": 2974, "referenceAllele": "C", "start": 2973 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000682068.1:c.2554C>T" ], "proteinEffect": { "hgvs": "ENSP00000507226.1:p.Gln852Ter", "hgvsWellDefined": "ENSP00000507226.1:p.Gln852_Lys1235delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrValArgSerPheHisAspPheGluMetGluThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827066" }, { "coordinates": [ { "allele": "T", "end": 131, "referenceAllele": "C", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000682426.1:n.131C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827417" }, { "coordinates": [ { "allele": "T", "end": 2501, "referenceAllele": "C", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000682879.1:c.*1652C>T" ], "proteinEffect": { "hgvs": "ENSP00000508210.1:n.*1652C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827867" }, { "coordinates": [ { "allele": "T", "end": 2805, "referenceAllele": "C", "start": 2804 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000683105.1:c.2554C>T" ], "proteinEffect": { "hgvs": "ENSP00000506801.1:p.Gln852Ter", "hgvsWellDefined": "ENSP00000506801.1:p.Gln852_Ile1284delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleLeuLeuLysPheGlnAsnIleGlyHisLysLysGlyArgSerArgTyrMetIleCysValSerAspMetLysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828090" }, { "coordinates": [ { "allele": "T", "end": 2918, "referenceAllele": "C", "start": 2917 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000683676.1:c.2554C>T" ], "proteinEffect": { "hgvs": "ENSP00000508167.1:p.Gln852Ter", "hgvsWellDefined": "ENSP00000508167.1:p.Gln852_Ala1480delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgTyrIleSerGlnCysTyrProSerProLeuProProProHisHisSerProGlnSerValIlePheProPheLeuCysProCysAspLeuIleValGlnPheProProMetSerGluAsnMetArgCysLeuValPheCysSerCysAspSerLeuLeuArgMetMetValSerSerPheIleHisValProThrLysAspMetAsnSerSerPheCysMetAlaAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828647" }, { "coordinates": [ { "allele": "T", "end": 2055, "referenceAllele": "C", "start": 2054 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000683811.1:n.2055C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828780" }, { "coordinates": [ { "allele": "T", "end": 2756, "endIntronDirection": "-", "endIntronOffset": 2, "referenceAllele": "C", "start": 2756, "startIntronDirection": "-", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000684084.1:c.2506-3C>T" ], "proteinEffect": { "hgvs": "ENSP00000507859.1:n.2506-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829043" }, { "coordinates": [ { "allele": "T", "end": 2917, "referenceAllele": "C", "start": 2916 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000261200.9:c.2554C>T" ], "proteinEffect": { "hgvs": "ENSP00000261200.4:p.Gln852Ter", "hgvsWellDefined": "ENSP00000261200.4:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742097", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261200.9:c.2554C>T" }, "RefSeq": { "hgvs": "NM_020297.4:c.2554C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261200.4:p.Gln852Ter" }, "RefSeq": { "hgvs": "NP_064693.2:p.Gln852Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2554, "referenceAllele": "C", "start": 2553 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000261201.9:c.2554C>T" ], "proteinEffect": { "hgvs": "ENSP00000261201.4:p.Gln852Ter", "hgvsWellDefined": "ENSP00000261201.4:p.Gln852_Lys1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValSerSerIleMetAspAlaGlyLeuValLeuValPheSerGluGlyIleLeuValGluCysAspThrValProAsnLeuLeuAlaHisLysAsnGlyLeuPheSerThrLeuValMetThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742098" }, { "coordinates": [ { "allele": "T", "end": 2554, "referenceAllele": "C", "start": 2553 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000261200.8:c.2554C>T" ], "proteinEffect": { "hgvs": "ENSP00000261200.4:p.Gln852Ter", "hgvsWellDefined": "ENSP00000261200.4:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250683" }, { "coordinates": [ { "allele": "T", "end": 2554, "referenceAllele": "C", "start": 2553 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000261201.8:c.2554C>T" ], "proteinEffect": { "hgvs": "ENSP00000261201.4:p.Gln852Ter", "hgvsWellDefined": "ENSP00000261201.4:p.Gln852_Lys1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValSerSerIleMetAspAlaGlyLeuValLeuValPheSerGluGlyIleLeuValGluCysAspThrValProAsnLeuLeuAlaHisLysAsnGlyLeuPheSerThrLeuValMetThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250684" }, { "coordinates": [ { "allele": "T", "end": 1435, "referenceAllele": "C", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "ENST00000544039.5:c.1435C>T" ], "proteinEffect": { "hgvs": "ENSP00000440521.1:p.Gln479Ter", "hgvsWellDefined": "ENSP00000440521.1:p.Gln479_Lys1176delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValSerSerIleMetAspAlaGlyLeuValLeuValPheSerGluGlyIleLeuValGluCysAspThrValProAsnLeuLeuAlaHisLysAsnGlyLeuPheSerThrLeuValMetThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364354" }, { "@id": "http://reg.genome.network/allele/PA325665", "coordinates": [ { "allele": "T", "end": 2574, "referenceAllele": "C", "start": 2573 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "NM_005691.3:c.2554C>T" ], "proteinEffect": { "hgvs": "NP_005682.2:p.Gln852Ter", "hgvsWellDefined": "NP_005682.2:p.Gln852_Lys1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValSerSerIleMetAspAlaGlyLeuValLeuValPheSerGluGlyIleLeuValGluCysAspThrValProAsnLeuLeuAlaHisLysAsnGlyLeuPheSerThrLeuValMetThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030775" }, { "@id": "http://reg.genome.network/allele/PA325666", "coordinates": [ { "allele": "T", "end": 2574, "referenceAllele": "C", "start": 2573 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "NM_020297.3:c.2554C>T" ], "proteinEffect": { "hgvs": "NP_064693.2:p.Gln852Ter", "hgvsWellDefined": "NP_064693.2:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036297" }, { "coordinates": [ { "allele": "T", "end": 3354, "referenceAllele": "C", "start": 3353 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253284.2:c.2554C>T" ], "proteinEffect": { "hgvs": "XP_005253341.1:p.Gln852Ter", "hgvsWellDefined": "XP_005253341.1:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060234" }, { "coordinates": [ { "allele": "T", "end": 3414, "referenceAllele": "C", "start": 3413 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253286.2:c.2554C>T" ], "proteinEffect": { "hgvs": "XP_005253343.1:p.Gln852Ter", "hgvsWellDefined": "XP_005253343.1:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060235" }, { "coordinates": [ { "allele": "T", "end": 3354, "referenceAllele": "C", "start": 3353 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253287.3:c.2554C>T" ], "proteinEffect": { "hgvs": "XP_005253344.1:p.Gln852Ter", "hgvsWellDefined": "XP_005253344.1:p.Gln852_Lys1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValSerSerIleMetAspAlaGlyLeuValLeuValPheSerGluGlyIleLeuValGluCysAspThrValProAsnLeuLeuAlaHisLysAsnGlyLeuPheSerThrLeuValMetThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060236" }, { "coordinates": [ { "allele": "T", "end": 3238, "referenceAllele": "C", "start": 3237 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253288.2:c.2554C>T" ], "proteinEffect": { "hgvs": "XP_005253345.1:p.Gln852Ter", "hgvsWellDefined": "XP_005253345.1:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060237" }, { "coordinates": [ { "allele": "T", "end": 3315, "referenceAllele": "C", "start": 3314 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253289.2:c.2515C>T" ], "proteinEffect": { "hgvs": "XP_005253346.1:p.Gln839Ter", "hgvsWellDefined": "XP_005253346.1:p.Gln839_Met1536delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060238" }, { "coordinates": [ { "allele": "T", "end": 3213, "referenceAllele": "C", "start": 3212 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253290.2:c.2413C>T" ], "proteinEffect": { "hgvs": "XP_005253347.1:p.Gln805Ter", "hgvsWellDefined": "XP_005253347.1:p.Gln805_Met1502delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060239" }, { "coordinates": [ { "allele": "T", "end": 3315, "referenceAllele": "C", "start": 3314 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_006719025.2:c.2515C>T" ], "proteinEffect": { "hgvs": "XP_006719088.1:p.Gln839Ter", "hgvsWellDefined": "XP_006719088.1:p.Gln839_Lys1536delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValSerSerIleMetAspAlaGlyLeuValLeuValPheSerGluGlyIleLeuValGluCysAspThrValProAsnLeuLeuAlaHisLysAsnGlyLeuPheSerThrLeuValMetThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072890" }, { "coordinates": [ { "allele": "T", "end": 3410, "referenceAllele": "C", "start": 3409 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_011520545.1:c.2554C>T" ], "proteinEffect": { "hgvs": "XP_011518847.1:p.Gln852Ter", "hgvsWellDefined": "XP_011518847.1:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087712" }, { "coordinates": [ { "allele": "T", "end": 3354, "referenceAllele": "C", "start": 3353 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253284.4:c.2554C>T" ], "proteinEffect": { "hgvs": "XP_005253341.1:p.Gln852Ter", "hgvsWellDefined": "XP_005253341.1:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533934" }, { "coordinates": [ { "allele": "T", "end": 2974, "referenceAllele": "C", "start": 2973 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253286.4:c.2554C>T" ], "proteinEffect": { "hgvs": "XP_005253343.1:p.Gln852Ter", "hgvsWellDefined": "XP_005253343.1:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533935" }, { "coordinates": [ { "allele": "T", "end": 2805, "referenceAllele": "C", "start": 2804 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253287.5:c.2554C>T" ], "proteinEffect": { "hgvs": "XP_005253344.1:p.Gln852Ter", "hgvsWellDefined": "XP_005253344.1:p.Gln852_Lys1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValSerSerIleMetAspAlaGlyLeuValLeuValPheSerGluGlyIleLeuValGluCysAspThrValProAsnLeuLeuAlaHisLysAsnGlyLeuPheSerThrLeuValMetThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533936" }, { "coordinates": [ { "allele": "T", "end": 3238, "referenceAllele": "C", "start": 3237 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253288.4:c.2554C>T" ], "proteinEffect": { "hgvs": "XP_005253345.1:p.Gln852Ter", "hgvsWellDefined": "XP_005253345.1:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533937" }, { "coordinates": [ { "allele": "T", "end": 3315, "referenceAllele": "C", "start": 3314 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253289.4:c.2515C>T" ], "proteinEffect": { "hgvs": "XP_005253346.1:p.Gln839Ter", "hgvsWellDefined": "XP_005253346.1:p.Gln839_Met1536delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533938" }, { "coordinates": [ { "allele": "T", "end": 3213, "referenceAllele": "C", "start": 3212 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_005253290.4:c.2413C>T" ], "proteinEffect": { "hgvs": "XP_005253347.1:p.Gln805Ter", "hgvsWellDefined": "XP_005253347.1:p.Gln805_Met1502delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533939" }, { "coordinates": [ { "allele": "T", "end": 3315, "referenceAllele": "C", "start": 3314 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_006719025.4:c.2515C>T" ], "proteinEffect": { "hgvs": "XP_006719088.1:p.Gln839Ter", "hgvsWellDefined": "XP_006719088.1:p.Gln839_Lys1536delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValSerSerIleMetAspAlaGlyLeuValLeuValPheSerGluGlyIleLeuValGluCysAspThrValProAsnLeuLeuAlaHisLysAsnGlyLeuPheSerThrLeuValMetThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539759" }, { "coordinates": [ { "allele": "T", "end": 3410, "referenceAllele": "C", "start": 3409 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "XM_011520545.3:c.2554C>T" ], "proteinEffect": { "hgvs": "XP_011518847.1:p.Gln852Ter", "hgvsWellDefined": "XP_011518847.1:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545776" }, { "@id": "http://reg.genome.network/allele/PA2828705227", "coordinates": [ { "allele": "T", "end": 2977, "referenceAllele": "C", "start": 2976 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "NM_001377273.1:c.2554C>T" ], "proteinEffect": { "hgvs": "NP_001364202.1:p.Gln852Ter", "hgvsWellDefined": "NP_001364202.1:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695059" }, { "@id": "http://reg.genome.network/allele/PA2828705989", "coordinates": [ { "allele": "T", "end": 2504, "referenceAllele": "C", "start": 2503 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "NM_001377274.1:c.1687C>T" ], "proteinEffect": { "hgvs": "NP_001364203.1:p.Gln563Ter", "hgvsWellDefined": "NP_001364203.1:p.Gln563_Met1260delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695060" }, { "@id": "http://reg.genome.network/allele/PA325665", "coordinates": [ { "allele": "T", "end": 2917, "referenceAllele": "C", "start": 2916 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "NM_005691.4:c.2554C>T" ], "proteinEffect": { "hgvs": "NP_005682.2:p.Gln852Ter", "hgvsWellDefined": "NP_005682.2:p.Gln852_Lys1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValSerSerIleMetAspAlaGlyLeuValLeuValPheSerGluGlyIleLeuValGluCysAspThrValProAsnLeuLeuAlaHisLysAsnGlyLeuPheSerThrLeuValMetThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727660" }, { "@id": "http://reg.genome.network/allele/PA325666", "coordinates": [ { "allele": "T", "end": 2917, "referenceAllele": "C", "start": 2916 } ], "gene": "http://reg.genome.network/gene/GN000060", "geneNCBI_id": 10060, "geneSymbol": "ABCC9", "hgvs": [ "NM_020297.4:c.2554C>T" ], "proteinEffect": { "hgvs": "NP_064693.2:p.Gln852Ter", "hgvsWellDefined": "NP_064693.2:p.Gln852_Met1549delinsGluGlyIleLeuLysPheLeuGlnAspAspLysArgThrLeuValLeuValThrHisLysLeuGlnTyrLeuThrHisAlaAspTrpIleIleAlaMetLysAspGlySerValLeuArgGluGlyThrLeuLysAspIleGlnThrLysAspValGluLeuTyrGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysAspMetGluAlaAspGlnThrThrLeuGluArgLysThrLeuArgArgAlaMetTyrSerArgGluAlaLysAlaGlnMetGluAspGluAspGluGluGluGluGluGluGluAspGluAspAspAsnMetSerThrValMetArgLeuArgThrLysMetProTrpLysThrCysTrpArgTyrLeuThrSerGlyGlyPhePheLeuLeuIleLeuMetIlePheSerLysLeuLeuLysHisSerValIleValAlaIleAspTyrTrpLeuAlaThrTrpThrSerGluTyrSerIleAsnAsnThrGlyLysAlaAspGlnThrTyrTyrValAlaGlyPheSerIleLeuCysGlyAlaGlyIlePheLeuCysLeuValThrSerLeuThrValGluTrpMetGlyLeuThrAlaAlaLysAsnLeuHisHisAsnLeuLeuAsnLysIleIleLeuGlyProIleArgPhePheAspThrThrProLeuGlyLeuIleLeuAsnArgPheSerAlaAspThrAsnIleIleAspGlnHisIleProProThrLeuGluSerLeuThrArgSerThrLeuLeuCysLeuSerAlaIleGlyMetIleSerTyrAlaThrProValPheLeuValAlaLeuLeuProLeuGlyValAlaPheTyrPheIleGlnLysTyrPheArgValAlaSerLysAspLeuGlnGluLeuAspAspSerThrGlnLeuProLeuLeuCysHisPheSerGluThrAlaGluGlyLeuThrThrIleArgAlaPheArgHisGluThrArgPheLysGlnArgMetLeuGluLeuThrAspThrAsnAsnIleAlaTyrLeuPheLeuSerAlaAlaAsnArgTrpLeuGluValArgThrAspTyrLeuGlyAlaCysIleValLeuThrAlaSerIleAlaSerIleSerGlySerSerAsnSerGlyLeuValGlyLeuGlyLeuLeuTyrAlaLeuThrIleThrAsnTyrLeuAsnTrpValValArgAsnLeuAlaAspLeuGluValGlnMetGlyAlaValLysLysValAsnSerPheLeuThrMetGluSerGluAsnTyrGluGlyThrMetAspProSerGlnValProGluHisTrpProGlnGluGlyGluIleLysIleHisAspLeuCysValArgTyrGluAsnAsnLeuLysProValLeuLysHisValLysAlaTyrIleLysProGlyGlnLysValGlyIleCysGlyArgThrGlySerGlyLysSerSerLeuSerLeuAlaPhePheArgMetValAspIlePheAspGlyLysIleValIleAspGlyIleAspIleSerLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProIleLeuPheSerGlySerIleArgPheAsnLeuAspProGluCysLysCysThrAspAspArgLeuTrpGluAlaLeuGluIleAlaGlnLeuLysAsnMetValLysSerLeuProGlyGlyLeuAspAlaValValThrGluGlyGlyGluAsnPheSerValGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysSerSerIleLeuIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuThrAlaAspLeuValIleValMetLysArgGlyAsnIleLeuGluTyrAspThrProGluSerLeuLeuAlaGlnGluAsnGlyValPheAlaSerPheValArgAlaAspMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728424", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261200.9:c.2554C>T" }, "RefSeq": { "hgvs": "NM_020297.4:c.2554C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261200.4:p.Gln852Ter" }, "RefSeq": { "hgvs": "NP_064693.2:p.Gln852Ter" } } } } ], "type": "nucleotide" }