{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA11206866", "communityStandardTitle": [ "NM_001375670.1(ABI2):c.1193-3918C>T" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.204272090C>T?assembly=hg19", "id": "chr2:g.204272090C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.203407367C>T?assembly=hg38", "id": "chr2:g.203407367C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1376877", "rs": 1376877 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-204272090-C-T?dataset=gnomad_r2_1", "id": "2-204272090-C-T", "variant": "2:204272090 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-203407367-C-T?dataset=gnomad_r3", "id": "2-203407367-C-T", "variant": "2:203407367 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-203407367-C-T?dataset=gnomad_r4", "id": "2-203407367-C-T", "variant": "2:203407367 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 203407367, "referenceAllele": "C", "start": 203407366 } ], "hgvs": [ "NC_000002.12:g.203407367C>T", "CM000664.2:g.203407367C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 204272090, "referenceAllele": "C", "start": 204272089 } ], "hgvs": [ "NC_000002.11:g.204272090C>T", "CM000664.1:g.204272090C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 203980335, "referenceAllele": "C", "start": 203980334 } ], "hgvs": [ "NC_000002.10:g.203980335C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1246, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1246, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000261016.11:c.1246+4633C>T" ], "proteinEffect": { "hgvs": "ENSP00000261016.8:n.1246+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS742080" }, { "coordinates": [ { "allele": "T", "end": 1313, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1313, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000261018.12:c.1193-3918C>T" ], "proteinEffect": { "hgvs": "ENSP00000261018.9:n.1193-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS742081", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261018.12:c.1193-3918C>T" }, "RefSeq": { "hgvs": "NM_001375670.1:c.1193-3918C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261018.9:n.1193-3918C>T" }, "RefSeq": { "hgvs": "NP_001362599.1:n.1193-3918C>T" } } } }, { "coordinates": [ { "allele": "T", "end": 1313, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1313, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000295851.10:c.1192+4633C>T" ], "proteinEffect": { "hgvs": "ENSP00000295851.4:n.1192+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS744336" }, { "coordinates": [ { "allele": "T", "end": 1464, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1464, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000261016.10:c.823+4633C>T" ], "proteinEffect": { "hgvs": "ENSP00000261016.7:n.823+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS250655" }, { "coordinates": [ { "allele": "T", "end": 1226, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1226, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000261017.9:c.992-3918C>T" ], "proteinEffect": { "hgvs": "ENSP00000261017.5:n.992-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS250656" }, { "coordinates": [ { "allele": "T", "end": 1468, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1468, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000261018.11:c.1192+4633C>T" ], "proteinEffect": { "hgvs": "ENSP00000261018.8:n.1192+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS250657" }, { "coordinates": [ { "allele": "T", "end": 1488, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1488, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000295851.9:c.1192+4633C>T" ], "proteinEffect": { "hgvs": "ENSP00000295851.4:n.1192+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS254169" }, { "coordinates": [ { "allele": "T", "end": 520, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 520, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000416001.5:c.*132+4633C>T" ], "proteinEffect": { "hgvs": "ENSP00000405801.1:n.*132+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS284262" }, { "coordinates": [ { "allele": "T", "end": 258, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 258, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000416396.5:n.259-3918C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS284441" }, { "coordinates": [ { "allele": "T", "end": 1300, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1300, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000417864.5:c.1192+4633C>T" ], "proteinEffect": { "hgvs": "ENSP00000414703.1:n.1192+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS285123" }, { "coordinates": [ { "allele": "T", "end": 1124, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1124, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000422511.6:c.1093+4633C>T" ], "proteinEffect": { "hgvs": "ENSP00000396249.2:n.1093+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS287314" }, { "coordinates": [ { "allele": "T", "end": 409, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 409, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000422719.5:n.409+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS287409" }, { "coordinates": [ { "allele": "T", "end": 1294, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1294, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000424558.5:c.1174+4633C>T" ], "proteinEffect": { "hgvs": "ENSP00000391433.1:n.1174+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS288325" }, { "coordinates": [ { "allele": "T", "end": 1150, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1150, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000430418.5:c.1027+4633C>T" ], "proteinEffect": { "hgvs": "ENSP00000408898.1:n.1027+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS291138" }, { "coordinates": [ { "allele": "T", "end": 684, "endIntronDirection": "+", "endIntronOffset": 4006, "referenceAllele": "C", "start": 684, "startIntronDirection": "+", "startIntronOffset": 4005 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000430574.5:n.684+4006C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS291213" }, { "coordinates": [ { "allele": "T", "end": 904, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 904, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000441061.5:c.904+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS296203" }, { "coordinates": [ { "allele": "T", "end": 531, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 531, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000454023.1:c.531+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS302382" }, { "coordinates": [ { "allele": "A", "end": 1928, "endIntronDirection": "-", "endIntronOffset": 12277, "referenceAllele": "G", "start": 1928, "startIntronDirection": "-", "startIntronOffset": 12278 } ], "gene": "http://reg.genome.network/gene/GN014436", "geneNCBI_id": 65059, "geneSymbol": "RAPH1", "hgvs": [ "ENST00000457812.5:c.1777-12278G>A" ], "proteinEffect": { "hgvs": "ENSP00000392854.1:n.1777-12278G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS304124" }, { "coordinates": [ { "allele": "T", "end": 29, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 29, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "ENST00000464761.1:n.30-3918C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308514" }, { "coordinates": [ { "allele": "T", "end": 1468, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1468, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001282925.1:c.1192+4633C>T" ], "proteinEffect": { "hgvs": "NP_001269854.1:n.1192+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022344" }, { "coordinates": [ { "allele": "T", "end": 1450, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1450, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001282926.1:c.1174+4633C>T" ], "proteinEffect": { "hgvs": "NP_001269855.1:n.1174+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022345" }, { "coordinates": [ { "allele": "T", "end": 943, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 943, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001282927.1:c.856+4633C>T" ], "proteinEffect": { "hgvs": "NP_001269856.1:n.856+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022346" }, { "coordinates": [ { "allele": "T", "end": 1464, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1464, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001282932.1:c.823+4633C>T" ], "proteinEffect": { "hgvs": "NP_001269861.1:n.823+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022351" }, { "coordinates": [ { "allele": "T", "end": 1267, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1267, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_005759.5:c.992-3918C>T" ], "proteinEffect": { "hgvs": "NP_005750.4:n.992-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS030831" }, { "coordinates": [ { "allele": "T", "end": 1833, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1833, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246217.1:c.1193-3918C>T" ], "proteinEffect": { "hgvs": "XP_005246274.1:n.1193-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057522" }, { "coordinates": [ { "allele": "T", "end": 1815, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1815, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246218.1:c.1175-3918C>T" ], "proteinEffect": { "hgvs": "XP_005246275.1:n.1175-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057523" }, { "coordinates": [ { "allele": "T", "end": 1668, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1668, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246221.1:c.1028-3918C>T" ], "proteinEffect": { "hgvs": "XP_005246278.1:n.1028-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057524" }, { "coordinates": [ { "allele": "T", "end": 1665, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1665, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246222.1:c.1025-3918C>T" ], "proteinEffect": { "hgvs": "XP_005246279.1:n.1025-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057525" }, { "coordinates": [ { "allele": "T", "end": 1668, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1668, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246225.1:c.1027+4633C>T" ], "proteinEffect": { "hgvs": "XP_005246282.1:n.1027+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057526" }, { "coordinates": [ { "allele": "T", "end": 1632, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1632, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246226.1:c.991+4633C>T" ], "proteinEffect": { "hgvs": "XP_005246283.1:n.991+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057527" }, { "coordinates": [ { "allele": "T", "end": 1833, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1833, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712174.1:c.1193-3918C>T" ], "proteinEffect": { "hgvs": "XP_006712237.1:n.1193-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069501" }, { "coordinates": [ { "allele": "T", "end": 1909, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1909, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712177.1:c.1058-3918C>T" ], "proteinEffect": { "hgvs": "XP_006712240.1:n.1058-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069502" }, { "coordinates": [ { "allele": "T", "end": 1905, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1905, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712178.1:c.1058-3918C>T" ], "proteinEffect": { "hgvs": "XP_006712241.1:n.1058-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069503" }, { "coordinates": [ { "allele": "T", "end": 1686, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1686, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712179.1:c.1046-3918C>T" ], "proteinEffect": { "hgvs": "XP_006712242.1:n.1046-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069504" }, { "coordinates": [ { "allele": "T", "end": 1650, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1650, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712180.1:c.1010-3918C>T" ], "proteinEffect": { "hgvs": "XP_006712243.1:n.1010-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069505" }, { "coordinates": [ { "allele": "T", "end": 1650, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1650, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712181.1:c.1009+4633C>T" ], "proteinEffect": { "hgvs": "XP_006712244.1:n.1009+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069506" }, { "coordinates": [ { "allele": "T", "end": 1647, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1647, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712182.1:c.1006+4633C>T" ], "proteinEffect": { "hgvs": "XP_006712245.1:n.1006+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069507" }, { "coordinates": [ { "allele": "T", "end": 1833, "endIntronDirection": "-", "endIntronOffset": 516, "referenceAllele": "C", "start": 1833, "startIntronDirection": "-", "startIntronOffset": 517 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712183.2:c.1193-517C>T" ], "proteinEffect": { "hgvs": "XP_006712246.1:n.1193-517C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069508" }, { "coordinates": [ { "allele": "T", "end": 1708, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1708, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712185.1:c.856+4633C>T" ], "proteinEffect": { "hgvs": "XP_006712248.1:n.856+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069509" }, { "coordinates": [ { "allele": "T", "end": 1485, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1485, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712186.1:c.844+4633C>T" ], "proteinEffect": { "hgvs": "XP_006712249.1:n.844+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069510" }, { "coordinates": [ { "allele": "T", "end": 1683, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1683, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_011510472.1:c.1043-3918C>T" ], "proteinEffect": { "hgvs": "XP_011508774.1:n.1043-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS077737" }, { "coordinates": [ { "allele": "T", "end": 1132, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1132, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_011510473.1:c.764-3918C>T" ], "proteinEffect": { "hgvs": "XP_011508775.1:n.764-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS077738" }, { "coordinates": [ { "allele": "T", "end": 877, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 877, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_011510474.1:c.764-3918C>T" ], "proteinEffect": { "hgvs": "XP_011508776.1:n.764-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS077739" }, { "coordinates": [ { "allele": "T", "end": 1833, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1833, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246217.2:c.1193-3918C>T" ], "proteinEffect": { "hgvs": "XP_005246274.1:n.1193-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS532563" }, { "coordinates": [ { "allele": "T", "end": 1815, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1815, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246218.3:c.1175-3918C>T" ], "proteinEffect": { "hgvs": "XP_005246275.1:n.1175-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS532564" }, { "coordinates": [ { "allele": "T", "end": 1668, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1668, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246221.3:c.1028-3918C>T" ], "proteinEffect": { "hgvs": "XP_005246278.1:n.1028-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS532565" }, { "coordinates": [ { "allele": "T", "end": 1668, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1668, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246225.3:c.1027+4633C>T" ], "proteinEffect": { "hgvs": "XP_005246282.1:n.1027+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS532566" }, { "coordinates": [ { "allele": "T", "end": 1632, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1632, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_005246226.2:c.991+4633C>T" ], "proteinEffect": { "hgvs": "XP_005246283.1:n.991+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS532567" }, { "coordinates": [ { "allele": "T", "end": 1833, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1833, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712174.3:c.1193-3918C>T" ], "proteinEffect": { "hgvs": "XP_006712237.1:n.1193-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS538191" }, { "coordinates": [ { "allele": "T", "end": 1909, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1909, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712177.3:c.1058-3918C>T" ], "proteinEffect": { "hgvs": "XP_006712240.1:n.1058-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS538192" }, { "coordinates": [ { "allele": "T", "end": 1686, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1686, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712179.2:c.1046-3918C>T" ], "proteinEffect": { "hgvs": "XP_006712242.1:n.1046-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS538193" }, { "coordinates": [ { "allele": "T", "end": 1650, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1650, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712180.3:c.1010-3918C>T" ], "proteinEffect": { "hgvs": "XP_006712243.1:n.1010-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS538194" }, { "coordinates": [ { "allele": "T", "end": 1650, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1650, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712181.3:c.1009+4633C>T" ], "proteinEffect": { "hgvs": "XP_006712244.1:n.1009+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS538195" }, { "coordinates": [ { "allele": "T", "end": 1647, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1647, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712182.3:c.1006+4633C>T" ], "proteinEffect": { "hgvs": "XP_006712245.1:n.1006+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS538196" }, { "coordinates": [ { "allele": "T", "end": 1485, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1485, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_006712186.3:c.844+4633C>T" ], "proteinEffect": { "hgvs": "XP_006712249.1:n.844+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS538197" }, { "coordinates": [ { "allele": "T", "end": 1683, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1683, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_011510472.2:c.1043-3918C>T" ], "proteinEffect": { "hgvs": "XP_011508774.1:n.1043-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS541723" }, { "coordinates": [ { "allele": "T", "end": 1305, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1305, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_011510473.3:c.764-3918C>T" ], "proteinEffect": { "hgvs": "XP_011508775.1:n.764-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS541724" }, { "coordinates": [ { "allele": "T", "end": 1830, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1830, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003118.1:c.1190-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858607.1:n.1190-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558915" }, { "coordinates": [ { "allele": "T", "end": 1833, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1833, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003119.2:c.1193-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858608.1:n.1193-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558916" }, { "coordinates": [ { "allele": "T", "end": 1830, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1830, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003120.2:c.1190-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858609.1:n.1190-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558917" }, { "coordinates": [ { "allele": "T", "end": 1830, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1830, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003121.1:c.1189+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858610.1:n.1189+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558918" }, { "coordinates": [ { "allele": "T", "end": 1686, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1686, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003122.1:c.1046-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858611.1:n.1046-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558919" }, { "coordinates": [ { "allele": "T", "end": 1665, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1665, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003123.2:c.1025-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858612.1:n.1025-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558920" }, { "coordinates": [ { "allele": "T", "end": 1632, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1632, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003124.2:c.992-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858613.1:n.992-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558921" }, { "coordinates": [ { "allele": "T", "end": 1629, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1629, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003125.2:c.989-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858614.1:n.989-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558922" }, { "coordinates": [ { "allele": "T", "end": 1632, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1632, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003126.1:c.992-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858615.1:n.992-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558923" }, { "coordinates": [ { "allele": "T", "end": 1629, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1629, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003127.1:c.989-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858616.1:n.989-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558924" }, { "coordinates": [ { "allele": "T", "end": 1909, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1909, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003128.1:c.1057+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858617.1:n.1057+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558925" }, { "coordinates": [ { "allele": "T", "end": 1686, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1686, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003129.1:c.1045+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858618.1:n.1045+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558926" }, { "coordinates": [ { "allele": "T", "end": 1683, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1683, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003130.1:c.1042+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858619.1:n.1042+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558927" }, { "coordinates": [ { "allele": "T", "end": 1665, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1665, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003131.2:c.1024+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858620.1:n.1024+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558928" }, { "coordinates": [ { "allele": "T", "end": 1650, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1650, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003132.2:c.1009+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858621.1:n.1009+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558929" }, { "coordinates": [ { "allele": "T", "end": 1762, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1762, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003133.2:c.911-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858622.1:n.911-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558930" }, { "coordinates": [ { "allele": "T", "end": 1632, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1632, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003134.2:c.991+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858623.1:n.991+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558931" }, { "coordinates": [ { "allele": "T", "end": 1629, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1629, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003135.1:c.988+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858624.1:n.988+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558932" }, { "coordinates": [ { "allele": "T", "end": 1629, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1629, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003136.1:c.988+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858625.1:n.988+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558933" }, { "coordinates": [ { "allele": "T", "end": 1723, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1723, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003137.2:c.872-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858626.1:n.872-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558934" }, { "coordinates": [ { "allele": "T", "end": 1500, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1500, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003138.2:c.860-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858627.1:n.860-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558935" }, { "coordinates": [ { "allele": "T", "end": 1708, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1708, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003139.2:c.857-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858628.1:n.857-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558936" }, { "coordinates": [ { "allele": "T", "end": 1705, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1705, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003140.2:c.854-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858629.1:n.854-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558937" }, { "coordinates": [ { "allele": "T", "end": 1485, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1485, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003141.1:c.845-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858630.1:n.845-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558938" }, { "coordinates": [ { "allele": "T", "end": 1482, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1482, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003142.2:c.842-3918C>T" ], "proteinEffect": { "hgvs": "XP_016858631.1:n.842-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558939" }, { "coordinates": [ { "allele": "T", "end": 1759, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1759, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003143.1:c.907+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858632.1:n.907+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558940" }, { "coordinates": [ { "allele": "T", "end": 1503, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1503, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003144.2:c.862+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858633.1:n.862+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558941" }, { "coordinates": [ { "allele": "T", "end": 1482, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1482, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003145.1:c.841+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858634.1:n.841+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558942" }, { "coordinates": [ { "allele": "T", "end": 1485, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1485, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_017003146.1:c.844+4633C>T" ], "proteinEffect": { "hgvs": "XP_016858635.1:n.844+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS558943" }, { "coordinates": [ { "allele": "T", "end": 1256, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1256, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XM_024452511.1:c.1058-3918C>T" ], "proteinEffect": { "hgvs": "XP_024308279.1:n.1058-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS586001" }, { "coordinates": [ { "allele": "T", "end": 1833, "endIntronDirection": "-", "endIntronOffset": 516, "referenceAllele": "C", "start": 1833, "startIntronDirection": "-", "startIntronOffset": 517 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XR_001738583.1:n.1834-517C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589076" }, { "coordinates": [ { "allele": "T", "end": 1833, "endIntronDirection": "-", "endIntronOffset": 516, "referenceAllele": "C", "start": 1833, "startIntronDirection": "-", "startIntronOffset": 517 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "XR_001738584.2:n.1834-517C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589077" }, { "coordinates": [ { "allele": "T", "end": 1313, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1313, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001282925.2:c.1192+4633C>T" ], "proteinEffect": { "hgvs": "NP_001269854.1:n.1192+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS664210" }, { "coordinates": [ { "allele": "T", "end": 1313, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1313, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001282925.3:c.1192+4633C>T" ], "proteinEffect": { "hgvs": "NP_001269854.1:n.1192+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS681948" }, { "coordinates": [ { "allele": "T", "end": 1295, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1295, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001282926.3:c.1174+4633C>T" ], "proteinEffect": { "hgvs": "NP_001269855.1:n.1174+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS681949" }, { "coordinates": [ { "allele": "T", "end": 1188, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1188, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001282927.2:c.856+4633C>T" ], "proteinEffect": { "hgvs": "NP_001269856.1:n.856+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS681950" }, { "coordinates": [ { "allele": "T", "end": 1309, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1309, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001282932.2:c.823+4633C>T" ], "proteinEffect": { "hgvs": "NP_001269861.1:n.823+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS681954" }, { "coordinates": [ { "allele": "T", "end": 1309, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1309, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375662.1:c.971-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362591.1:n.971-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693749" }, { "coordinates": [ { "allele": "T", "end": 1437, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1437, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375663.1:c.971-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362592.1:n.971-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693750" }, { "coordinates": [ { "allele": "T", "end": 1162, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1162, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375664.1:c.823+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362593.1:n.823+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693751" }, { "coordinates": [ { "allele": "T", "end": 1290, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1290, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375665.1:c.823+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362594.1:n.823+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693752" }, { "coordinates": [ { "allele": "T", "end": 1236, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1236, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375666.1:c.769+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362595.1:n.769+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693753" }, { "coordinates": [ { "allele": "T", "end": 1108, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1108, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375667.1:c.769+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362596.1:n.769+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693754" }, { "coordinates": [ { "allele": "T", "end": 961, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 961, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375668.1:c.623-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362597.1:n.623-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693755" }, { "coordinates": [ { "allele": "T", "end": 1089, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1089, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375669.1:c.623-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362598.1:n.623-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693756" }, { "coordinates": [ { "allele": "T", "end": 1313, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1313, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375670.1:c.1193-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362599.1:n.1193-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693757", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261018.12:c.1193-3918C>T" }, "RefSeq": { "hgvs": "NM_001375670.1:c.1193-3918C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261018.9:n.1193-3918C>T" }, "RefSeq": { "hgvs": "NP_001362599.1:n.1193-3918C>T" } } } }, { "coordinates": [ { "allele": "T", "end": 1310, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1310, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375671.1:c.1190-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362600.1:n.1190-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693758" }, { "coordinates": [ { "allele": "T", "end": 1313, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1313, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375672.1:c.1193-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362601.1:n.1193-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693759" }, { "coordinates": [ { "allele": "T", "end": 1313, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1313, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375673.1:c.1193-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362602.1:n.1193-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693760" }, { "coordinates": [ { "allele": "T", "end": 1310, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1310, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375674.1:c.1190-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362603.1:n.1190-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693761" }, { "coordinates": [ { "allele": "T", "end": 1295, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1295, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375675.1:c.1175-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362604.1:n.1175-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693762" }, { "coordinates": [ { "allele": "T", "end": 1313, "endIntronDirection": "-", "endIntronOffset": 516, "referenceAllele": "C", "start": 1313, "startIntronDirection": "-", "startIntronOffset": 517 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375676.1:c.1193-517C>T" ], "proteinEffect": { "hgvs": "NP_001362605.1:n.1193-517C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693763" }, { "coordinates": [ { "allele": "T", "end": 1310, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1310, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375677.1:c.1189+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362606.1:n.1189+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693764" }, { "coordinates": [ { "allele": "T", "end": 1211, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1211, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375678.1:c.1091-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362607.1:n.1091-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693765" }, { "coordinates": [ { "allele": "T", "end": 1389, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1389, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375679.1:c.1058-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362608.1:n.1058-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693766" }, { "coordinates": [ { "allele": "T", "end": 1166, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1166, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375680.1:c.1046-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362609.1:n.1046-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693767" }, { "coordinates": [ { "allele": "T", "end": 1163, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1163, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375681.1:c.1043-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362610.1:n.1043-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693768" }, { "coordinates": [ { "allele": "T", "end": 1166, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1166, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375682.1:c.1046-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362611.1:n.1046-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693769" }, { "coordinates": [ { "allele": "T", "end": 1148, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1148, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375683.1:c.1028-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362612.1:n.1028-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693770" }, { "coordinates": [ { "allele": "T", "end": 1145, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1145, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375684.1:c.1025-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362613.1:n.1025-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693771" }, { "coordinates": [ { "allele": "T", "end": 1211, "endIntronDirection": "+", "endIntronOffset": 4006, "referenceAllele": "C", "start": 1211, "startIntronDirection": "+", "startIntronOffset": 4005 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375685.1:c.1090+4006C>T" ], "proteinEffect": { "hgvs": "NP_001362614.1:n.1090+4006C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693772" }, { "coordinates": [ { "allele": "T", "end": 1112, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1112, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375686.1:c.992-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362615.1:n.992-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693773" }, { "coordinates": [ { "allele": "T", "end": 1109, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1109, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375687.1:c.989-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362616.1:n.989-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693774" }, { "coordinates": [ { "allele": "T", "end": 1112, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1112, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375688.1:c.992-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362617.1:n.992-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693775" }, { "coordinates": [ { "allele": "T", "end": 1109, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1109, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375689.1:c.989-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362618.1:n.989-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693776" }, { "coordinates": [ { "allele": "T", "end": 1109, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1109, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375690.1:c.989-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362619.1:n.989-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693777" }, { "coordinates": [ { "allele": "T", "end": 1389, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1389, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375691.1:c.1057+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362620.1:n.1057+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693778" }, { "coordinates": [ { "allele": "T", "end": 1166, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1166, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375692.1:c.1045+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362621.1:n.1045+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693779" }, { "coordinates": [ { "allele": "T", "end": 1163, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1163, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375693.1:c.1042+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362622.1:n.1042+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693780" }, { "coordinates": [ { "allele": "T", "end": 1291, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1291, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375695.1:c.953-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362624.1:n.953-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693782" }, { "coordinates": [ { "allele": "T", "end": 1157, "endIntronDirection": "+", "endIntronOffset": 4006, "referenceAllele": "C", "start": 1157, "startIntronDirection": "+", "startIntronOffset": 4005 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375696.1:c.1036+4006C>T" ], "proteinEffect": { "hgvs": "NP_001362625.1:n.1036+4006C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693783" }, { "coordinates": [ { "allele": "T", "end": 1148, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1148, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375698.1:c.1027+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362627.1:n.1027+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693785" }, { "coordinates": [ { "allele": "T", "end": 1145, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1145, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375699.1:c.1024+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362628.1:n.1024+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693786" }, { "coordinates": [ { "allele": "T", "end": 1145, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1145, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375702.1:c.1024+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362631.1:n.1024+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693789" }, { "coordinates": [ { "allele": "T", "end": 1112, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1112, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375704.1:c.992-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362633.1:n.992-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693791" }, { "coordinates": [ { "allele": "T", "end": 1112, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1112, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375706.1:c.991+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362635.1:n.991+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693793" }, { "coordinates": [ { "allele": "T", "end": 1109, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1109, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375707.1:c.988+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362636.1:n.988+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693794" }, { "coordinates": [ { "allele": "T", "end": 1112, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1112, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375708.1:c.991+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362637.1:n.991+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693795" }, { "coordinates": [ { "allele": "T", "end": 1109, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1109, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375709.1:c.988+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362638.1:n.988+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693796" }, { "coordinates": [ { "allele": "T", "end": 1112, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1112, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375710.1:c.991+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362639.1:n.991+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693797" }, { "coordinates": [ { "allele": "T", "end": 1309, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1309, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375711.1:c.970+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362640.1:n.970+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693798" }, { "coordinates": [ { "allele": "T", "end": 1166, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1166, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375712.1:c.1045+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362641.1:n.1045+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693799" }, { "coordinates": [ { "allele": "T", "end": 998, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 998, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375714.1:c.878-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362643.1:n.878-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693801" }, { "coordinates": [ { "allele": "T", "end": 1203, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1203, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375717.1:c.872-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362646.1:n.872-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693804" }, { "coordinates": [ { "allele": "T", "end": 1278, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1278, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375719.1:c.955+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362648.1:n.955+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693806" }, { "coordinates": [ { "allele": "T", "end": 1188, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1188, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375721.1:c.857-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362650.1:n.857-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693808" }, { "coordinates": [ { "allele": "T", "end": 1185, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1185, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375722.1:c.854-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362651.1:n.854-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693809" }, { "coordinates": [ { "allele": "T", "end": 965, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 965, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375723.1:c.845-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362652.1:n.845-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693810" }, { "coordinates": [ { "allele": "T", "end": 962, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 962, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375724.1:c.842-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362653.1:n.842-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693811" }, { "coordinates": [ { "allele": "T", "end": 965, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 965, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375725.1:c.845-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362654.1:n.845-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693812" }, { "coordinates": [ { "allele": "T", "end": 962, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 962, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375726.1:c.842-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362655.1:n.842-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693813" }, { "coordinates": [ { "allele": "T", "end": 1290, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1290, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375727.1:c.824-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362656.1:n.824-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693814" }, { "coordinates": [ { "allele": "T", "end": 944, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 944, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375728.1:c.824-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362657.1:n.824-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693815" }, { "coordinates": [ { "allele": "T", "end": 1287, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1287, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375729.1:c.821-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362658.1:n.821-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693816" }, { "coordinates": [ { "allele": "T", "end": 941, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 941, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375730.1:c.821-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362659.1:n.821-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693817" }, { "coordinates": [ { "allele": "T", "end": 944, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 944, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375731.1:c.824-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362660.1:n.824-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693818" }, { "coordinates": [ { "allele": "T", "end": 998, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 998, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375732.1:c.877+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362661.1:n.877+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693819" }, { "coordinates": [ { "allele": "T", "end": 980, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 980, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375733.1:c.859+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362662.1:n.859+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693820" }, { "coordinates": [ { "allele": "T", "end": 1108, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1108, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375734.1:c.770-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362663.1:n.770-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693821" }, { "coordinates": [ { "allele": "T", "end": 1108, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1108, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375735.1:c.770-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362664.1:n.770-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693822" }, { "coordinates": [ { "allele": "T", "end": 971, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 971, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375736.1:c.850+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362665.1:n.850+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693823" }, { "coordinates": [ { "allele": "T", "end": 962, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 962, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375737.1:c.842-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362666.1:n.842-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693824" }, { "coordinates": [ { "allele": "T", "end": 965, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 965, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375738.1:c.844+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362667.1:n.844+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693825" }, { "coordinates": [ { "allele": "T", "end": 962, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 962, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375739.1:c.841+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362668.1:n.841+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693826" }, { "coordinates": [ { "allele": "T", "end": 965, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 965, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375740.1:c.844+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362669.1:n.844+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693827" }, { "coordinates": [ { "allele": "T", "end": 944, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 944, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375741.1:c.823+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362670.1:n.823+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693828" }, { "coordinates": [ { "allele": "T", "end": 1159, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1159, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375742.1:c.820+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362671.1:n.820+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693829" }, { "coordinates": [ { "allele": "T", "end": 944, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 944, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375743.1:c.823+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362672.1:n.823+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693830" }, { "coordinates": [ { "allele": "T", "end": 935, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 935, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375744.1:c.814+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362673.1:n.814+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693831" }, { "coordinates": [ { "allele": "T", "end": 1287, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1287, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375745.1:c.820+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362674.1:n.820+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693832" }, { "coordinates": [ { "allele": "T", "end": 932, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 932, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375746.1:c.811+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362675.1:n.811+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693833" }, { "coordinates": [ { "allele": "T", "end": 1038, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1038, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375747.1:c.707-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362676.1:n.707-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693834" }, { "coordinates": [ { "allele": "T", "end": 1108, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1108, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375748.1:c.769+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362677.1:n.769+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693835" }, { "coordinates": [ { "allele": "T", "end": 788, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 788, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375749.1:c.668-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362678.1:n.668-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693836" }, { "coordinates": [ { "allele": "T", "end": 1162, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1162, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375750.1:c.823+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362679.1:n.823+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693837" }, { "coordinates": [ { "allele": "T", "end": 958, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 958, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375751.1:c.620-3918C>T" ], "proteinEffect": { "hgvs": "NP_001362680.1:n.620-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693838" }, { "coordinates": [ { "allele": "T", "end": 797, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 797, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375752.1:c.676+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362681.1:n.676+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693839" }, { "coordinates": [ { "allele": "T", "end": 1089, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1089, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375753.1:c.622+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362682.1:n.622+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693840" }, { "coordinates": [ { "allele": "T", "end": 1184, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1184, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375754.1:c.856+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362683.1:n.856+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693841" }, { "coordinates": [ { "allele": "T", "end": 965, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 965, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_001375755.1:c.844+4633C>T" ], "proteinEffect": { "hgvs": "NP_001362684.1:n.844+4633C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693842" }, { "coordinates": [ { "allele": "T", "end": 1112, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1112, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NM_005759.7:c.992-3918C>T" ], "proteinEffect": { "hgvs": "NP_005750.4:n.992-3918C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS696514" }, { "coordinates": [ { "allele": "T", "end": 517, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 517, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164704.1:n.517+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705790" }, { "coordinates": [ { "allele": "T", "end": 1198, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1198, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164705.1:n.1199-3918C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705791" }, { "coordinates": [ { "allele": "T", "end": 840, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 840, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164706.1:n.840+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705792" }, { "coordinates": [ { "allele": "T", "end": 1392, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1392, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164707.1:n.1392+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705793" }, { "coordinates": [ { "allele": "T", "end": 987, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 987, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164708.1:n.988-3918C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705794" }, { "coordinates": [ { "allele": "T", "end": 987, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 987, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164709.1:n.987+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705795" }, { "coordinates": [ { "allele": "T", "end": 1019, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1019, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164710.1:n.1019+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705796" }, { "coordinates": [ { "allele": "T", "end": 1184, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1184, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164711.1:n.1184+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705797" }, { "coordinates": [ { "allele": "T", "end": 1166, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1166, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164712.1:n.1166+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705798" }, { "coordinates": [ { "allele": "T", "end": 1252, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1252, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164713.1:n.1252+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705799" }, { "coordinates": [ { "allele": "T", "end": 651, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 651, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164714.1:n.652-3918C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705800" }, { "coordinates": [ { "allele": "T", "end": 1198, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1198, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164715.1:n.1199-3918C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705801" }, { "coordinates": [ { "allele": "T", "end": 1105, "endIntronDirection": "-", "endIntronOffset": 3917, "referenceAllele": "C", "start": 1105, "startIntronDirection": "-", "startIntronOffset": 3918 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164716.1:n.1106-3918C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705802" }, { "coordinates": [ { "allele": "T", "end": 1183, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 1183, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164717.1:n.1183+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705803" }, { "coordinates": [ { "allele": "T", "end": 565, "endIntronDirection": "+", "endIntronOffset": 4633, "referenceAllele": "C", "start": 565, "startIntronDirection": "+", "startIntronOffset": 4632 } ], "gene": "http://reg.genome.network/gene/GN024011", "geneNCBI_id": 10152, "geneSymbol": "ABI2", "hgvs": [ "NR_164718.1:n.565+4633C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705804" } ], "type": "nucleotide" }