{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA15841640", "communityStandardTitle": [ "NM_001319206.4(MEF2A):c.610+141A>T" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.100214958A>T?assembly=hg19", "id": "chr15:g.100214958A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.99674753A>T?assembly=hg38", "id": "chr15:g.99674753A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2033547", "rs": 2033547 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-100214958-A-T?dataset=gnomad_r2_1", "id": "15-100214958-A-T", "variant": "15:100214958 A / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-99674753-A-T?dataset=gnomad_r3", "id": "15-99674753-A-T", "variant": "15:99674753 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-99674753-A-T?dataset=gnomad_r4", "id": "15-99674753-A-T", "variant": "15:99674753 A / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 99674753, "referenceAllele": "A", "start": 99674752 } ], "hgvs": [ "NC_000015.10:g.99674753A>T", "CM000677.2:g.99674753A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 100214958, "referenceAllele": "A", "start": 100214957 } ], "hgvs": [ "NC_000015.9:g.100214958A>T", "CM000677.1:g.100214958A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 98032481, "referenceAllele": "A", "start": 98032480 } ], "hgvs": [ "NC_000015.8:g.98032481A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 113826, "referenceAllele": "A", "start": 113825 } ], "hgvs": [ "NG_016443.1:g.113826A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003192" }, { "coordinates": [ { "allele": "T", "end": 113826, "referenceAllele": "A", "start": 113825 } ], "hgvs": [ "NG_016443.2:g.113826A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616228" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 973, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 973, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000705985.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000516195.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS912631" }, { "coordinates": [ { "allele": "T", "end": 973, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 973, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000338042.11:c.628+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000337202.8:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS823972" }, { "coordinates": [ { "allele": "T", "end": 955, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 955, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000557942.6:c.610+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000453095.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826061", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000557942.6:c.610+141A>T" }, "RefSeq": { "hgvs": "NM_001319206.4:c.610+141A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000453095.1:n.610+141A>T" }, "RefSeq": { "hgvs": "NP_001306135.1:n.610+141A>T" } } } }, { "coordinates": [ { "allele": "T", "end": 1157, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1157, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000685785.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000508747.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830250" }, { "coordinates": [ { "allele": "T", "end": 918, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 918, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000686611.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000509137.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830655" }, { "coordinates": [ { "allele": "T", "end": 862, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 862, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000690055.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000509700.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832512" }, { "coordinates": [ { "allele": "T", "end": 839, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 839, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000691492.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000509537.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS833244" }, { "coordinates": [ { "allele": "T", "end": 929, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 929, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000338042.10:c.610+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000337202.7:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS260575" }, { "coordinates": [ { "allele": "T", "end": 1245, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1245, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000354410.9:c.616+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000346389.5:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS263112" }, { "coordinates": [ { "allele": "T", "end": 663, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 663, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000449277.6:c.406+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000399460.2:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS300133" }, { "coordinates": [ { "allele": "T", "end": 959, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 959, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000557785.5:c.610+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000453441.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS373306" }, { "coordinates": [ { "allele": "T", "end": 852, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 852, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000557942.5:c.610+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000453095.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS373431" }, { "coordinates": [ { "allele": "T", "end": 725, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 725, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "ENST00000558812.5:c.406+141A>T" ], "proteinEffect": { "hgvs": "ENSP00000454120.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS374090" }, { "coordinates": [ { "allele": "T", "end": 929, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 929, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001130926.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001124398.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS012127" }, { "coordinates": [ { "allele": "T", "end": 725, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 725, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001130927.1:c.406+141A>T" ], "proteinEffect": { "hgvs": "NP_001124399.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS012128" }, { "coordinates": [ { "allele": "T", "end": 548, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 548, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001130928.1:c.406+141A>T" ], "proteinEffect": { "hgvs": "NP_001124400.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS012129" }, { "coordinates": [ { "allele": "T", "end": 1219, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1219, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001171894.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001165365.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS015384" }, { "coordinates": [ { "allele": "T", "end": 1017, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1017, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_005587.2:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_005578.2:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS030675" }, { "coordinates": [ { "allele": "T", "end": 994, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 994, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_005254914.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_005254971.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS060787" }, { "coordinates": [ { "allele": "T", "end": 976, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 976, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_005254915.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "XP_005254972.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS060788" }, { "coordinates": [ { "allele": "T", "end": 994, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 994, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_005254916.3:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_005254973.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS060789" }, { "coordinates": [ { "allele": "T", "end": 994, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 994, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521571.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519873.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088731" }, { "coordinates": [ { "allele": "T", "end": 939, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 939, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521572.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519874.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088732" }, { "coordinates": [ { "allele": "T", "end": 969, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 969, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521573.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519875.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088733" }, { "coordinates": [ { "allele": "T", "end": 1033, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1033, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521574.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519876.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088734" }, { "coordinates": [ { "allele": "T", "end": 794, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 794, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521575.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519877.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088735" }, { "coordinates": [ { "allele": "T", "end": 883, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 883, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521576.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519878.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088736" }, { "coordinates": [ { "allele": "T", "end": 812, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 812, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521577.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519879.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088737" }, { "coordinates": [ { "allele": "T", "end": 847, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 847, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521578.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519880.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088738" }, { "coordinates": [ { "allele": "T", "end": 907, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 907, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521579.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519881.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088739" }, { "coordinates": [ { "allele": "T", "end": 791, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 791, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521580.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519882.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088740" }, { "coordinates": [ { "allele": "T", "end": 982, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 982, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521581.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "XP_011519883.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088741" }, { "coordinates": [ { "allele": "T", "end": 1203, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1203, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521582.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "XP_011519884.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088742" }, { "coordinates": [ { "allele": "T", "end": 865, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 865, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521583.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "XP_011519885.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088743" }, { "coordinates": [ { "allele": "T", "end": 1239, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1239, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521584.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "XP_011519886.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088744" }, { "coordinates": [ { "allele": "T", "end": 1053, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1053, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521585.1:c.424+141A>T" ], "proteinEffect": { "hgvs": "XP_011519887.1:n.424+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088745" }, { "coordinates": [ { "allele": "T", "end": 1035, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1035, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521586.1:c.406+141A>T" ], "proteinEffect": { "hgvs": "XP_011519888.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088746" }, { "coordinates": [ { "allele": "T", "end": 1035, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1035, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521587.1:c.406+141A>T" ], "proteinEffect": { "hgvs": "XP_011519889.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088747" }, { "coordinates": [ { "allele": "T", "end": 1065, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1065, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521588.1:c.256+141A>T" ], "proteinEffect": { "hgvs": "XP_011519890.1:n.256+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088748" }, { "coordinates": [ { "allele": "T", "end": 1047, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1047, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521589.1:c.193+141A>T" ], "proteinEffect": { "hgvs": "XP_011519891.1:n.193+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088749" }, { "coordinates": [ { "allele": "T", "end": 994, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 994, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521590.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519892.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS088750" }, { "coordinates": [ { "allele": "T", "end": 994, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 994, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XR_931837.1:n.994+141A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127917" }, { "coordinates": [ { "allele": "T", "end": 929, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 929, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001130926.2:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001124398.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511464" }, { "coordinates": [ { "allele": "T", "end": 725, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 725, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001130927.2:c.406+141A>T" ], "proteinEffect": { "hgvs": "NP_001124399.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511465" }, { "coordinates": [ { "allele": "T", "end": 548, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 548, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001130928.2:c.406+141A>T" ], "proteinEffect": { "hgvs": "NP_001124400.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511466" }, { "coordinates": [ { "allele": "T", "end": 1219, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1219, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001171894.2:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001165365.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511712" }, { "coordinates": [ { "allele": "T", "end": 1011, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1011, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001319206.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001306135.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS513307" }, { "coordinates": [ { "allele": "T", "end": 1116, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1116, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352614.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001339543.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521040" }, { "coordinates": [ { "allele": "T", "end": 1388, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1388, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352615.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001339544.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521041" }, { "coordinates": [ { "allele": "T", "end": 861, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 861, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352616.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001339545.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521042" }, { "coordinates": [ { "allele": "T", "end": 909, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 909, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352617.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001339546.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521043" }, { "coordinates": [ { "allele": "T", "end": 1029, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1029, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352618.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "NP_001339547.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS521044" }, { "coordinates": [ { "allele": "T", "end": 973, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 973, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365201.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "NP_001352130.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524044" }, { "coordinates": [ { "allele": "T", "end": 891, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 891, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365202.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "NP_001352131.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524045" }, { "coordinates": [ { "allele": "T", "end": 961, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 961, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365203.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001352132.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524046" }, { "coordinates": [ { "allele": "T", "end": 879, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 879, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365204.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001352133.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524047" }, { "coordinates": [ { "allele": "T", "end": 873, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 873, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365205.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001352134.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524048" }, { "coordinates": [ { "allele": "T", "end": 891, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 891, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365206.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "NP_001352135.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524049" }, { "coordinates": [ { "allele": "T", "end": 879, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 879, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365207.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001352136.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524050" }, { "coordinates": [ { "allele": "T", "end": 955, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 955, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365208.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001352137.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524051" }, { "coordinates": [ { "allele": "T", "end": 751, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 751, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365209.1:c.406+141A>T" ], "proteinEffect": { "hgvs": "NP_001352138.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524052" }, { "coordinates": [ { "allele": "T", "end": 961, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 961, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365210.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001352139.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524053" }, { "coordinates": [ { "allele": "T", "end": 955, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 955, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365211.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001352140.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS524054" }, { "coordinates": [ { "allele": "T", "end": 1017, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1017, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_005587.3:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_005578.2:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS525327" }, { "coordinates": [ { "allele": "T", "end": 1239, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1239, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_005254915.2:c.610+141A>T" ], "proteinEffect": { "hgvs": "XP_005254972.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS534203" }, { "coordinates": [ { "allele": "T", "end": 1257, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1257, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521571.3:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519873.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546206" }, { "coordinates": [ { "allele": "T", "end": 939, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 939, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521572.2:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519874.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546207" }, { "coordinates": [ { "allele": "T", "end": 969, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 969, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521573.2:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519875.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546208" }, { "coordinates": [ { "allele": "T", "end": 883, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 883, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521576.2:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519878.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546209" }, { "coordinates": [ { "allele": "T", "end": 817, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 817, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521577.2:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519879.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546210" }, { "coordinates": [ { "allele": "T", "end": 1476, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1476, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521578.2:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519880.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546211" }, { "coordinates": [ { "allele": "T", "end": 893, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 893, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521579.2:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519881.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546212" }, { "coordinates": [ { "allele": "T", "end": 982, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 982, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521581.3:c.616+141A>T" ], "proteinEffect": { "hgvs": "XP_011519883.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546213" }, { "coordinates": [ { "allele": "T", "end": 1450, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1450, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521582.2:c.616+141A>T" ], "proteinEffect": { "hgvs": "XP_011519884.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546214" }, { "coordinates": [ { "allele": "T", "end": 865, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 865, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521583.2:c.610+141A>T" ], "proteinEffect": { "hgvs": "XP_011519885.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546215" }, { "coordinates": [ { "allele": "T", "end": 1053, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1053, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521585.2:c.424+141A>T" ], "proteinEffect": { "hgvs": "XP_011519887.1:n.424+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546216" }, { "coordinates": [ { "allele": "T", "end": 1035, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1035, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521586.2:c.406+141A>T" ], "proteinEffect": { "hgvs": "XP_011519888.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546217" }, { "coordinates": [ { "allele": "T", "end": 1035, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1035, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521587.2:c.406+141A>T" ], "proteinEffect": { "hgvs": "XP_011519889.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546218" }, { "coordinates": [ { "allele": "T", "end": 994, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 994, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_011521590.2:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_011519892.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546219" }, { "coordinates": [ { "allele": "T", "end": 871, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 871, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022190.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "XP_016877679.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573199" }, { "coordinates": [ { "allele": "T", "end": 863, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 863, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022191.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "XP_016877680.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573200" }, { "coordinates": [ { "allele": "T", "end": 872, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 872, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022192.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "XP_016877681.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573201" }, { "coordinates": [ { "allele": "T", "end": 871, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 871, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022194.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "XP_016877683.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573202" }, { "coordinates": [ { "allele": "T", "end": 728, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 728, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022195.1:c.412+141A>T" ], "proteinEffect": { "hgvs": "XP_016877684.1:n.412+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573203" }, { "coordinates": [ { "allele": "T", "end": 1383, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1383, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022196.1:c.256+141A>T" ], "proteinEffect": { "hgvs": "XP_016877685.1:n.256+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573204" }, { "coordinates": [ { "allele": "T", "end": 3161, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 3161, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022197.2:c.244+141A>T" ], "proteinEffect": { "hgvs": "XP_016877686.1:n.244+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573205" }, { "coordinates": [ { "allele": "T", "end": 1088, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1088, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022198.2:c.244+141A>T" ], "proteinEffect": { "hgvs": "XP_016877687.1:n.244+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573206" }, { "coordinates": [ { "allele": "T", "end": 1672, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1672, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022199.1:c.256+141A>T" ], "proteinEffect": { "hgvs": "XP_016877688.1:n.256+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573207" }, { "coordinates": [ { "allele": "T", "end": 1442, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1442, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022200.1:c.244+141A>T" ], "proteinEffect": { "hgvs": "XP_016877689.1:n.244+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573208" }, { "coordinates": [ { "allele": "T", "end": 1065, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1065, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022201.1:c.244+141A>T" ], "proteinEffect": { "hgvs": "XP_016877690.1:n.244+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573209" }, { "coordinates": [ { "allele": "T", "end": 1365, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1365, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022202.1:c.193+141A>T" ], "proteinEffect": { "hgvs": "XP_016877691.1:n.193+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573210" }, { "coordinates": [ { "allele": "T", "end": 1245, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1245, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022203.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "XP_016877692.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573211" }, { "coordinates": [ { "allele": "T", "end": 1239, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1239, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XM_017022204.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "XP_016877693.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573212" }, { "coordinates": [ { "allele": "T", "end": 994, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 994, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "XR_001751289.1:n.994+141A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598208" }, { "coordinates": [ { "allele": "T", "end": 669, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 669, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001130927.3:c.406+141A>T" ], "proteinEffect": { "hgvs": "NP_001124399.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS677165" }, { "coordinates": [ { "allele": "T", "end": 1163, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1163, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001171894.3:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001165365.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS678721" }, { "coordinates": [ { "allele": "T", "end": 955, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 955, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001319206.2:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001306135.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684761" }, { "coordinates": [ { "allele": "T", "end": 1060, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1060, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352614.2:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001339543.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689327" }, { "coordinates": [ { "allele": "T", "end": 1332, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1332, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352615.2:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001339544.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689328" }, { "coordinates": [ { "allele": "T", "end": 869, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 869, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352616.2:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001339545.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689329" }, { "coordinates": [ { "allele": "T", "end": 1093, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1093, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352617.2:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001339546.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689330" }, { "coordinates": [ { "allele": "T", "end": 973, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 973, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352618.2:c.628+141A>T" ], "proteinEffect": { "hgvs": "NP_001339547.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689331" }, { "coordinates": [ { "allele": "T", "end": 961, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 961, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365210.2:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001352139.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690991" }, { "coordinates": [ { "allele": "T", "end": 955, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 955, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365211.2:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001352140.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690992" }, { "coordinates": [ { "allele": "T", "end": 961, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 961, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_005587.4:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_005578.2:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS696464" }, { "coordinates": [ { "allele": "T", "end": 873, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 873, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001130926.5:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001124398.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS712359" }, { "coordinates": [ { "allele": "T", "end": 669, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 669, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001130927.5:c.406+141A>T" ], "proteinEffect": { "hgvs": "NP_001124399.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS712360" }, { "coordinates": [ { "allele": "T", "end": 669, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 669, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001130928.4:c.406+141A>T" ], "proteinEffect": { "hgvs": "NP_001124400.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS712361" }, { "coordinates": [ { "allele": "T", "end": 1163, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1163, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001171894.5:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001165365.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713395" }, { "coordinates": [ { "allele": "T", "end": 955, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 955, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001319206.4:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001306135.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717687", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000557942.6:c.610+141A>T" }, "RefSeq": { "hgvs": "NM_001319206.4:c.610+141A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000453095.1:n.610+141A>T" }, "RefSeq": { "hgvs": "NP_001306135.1:n.610+141A>T" } } } }, { "coordinates": [ { "allele": "T", "end": 1060, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1060, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352614.4:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001339543.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720108" }, { "coordinates": [ { "allele": "T", "end": 1332, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1332, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352615.4:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001339544.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720109" }, { "coordinates": [ { "allele": "T", "end": 869, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 869, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352616.4:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001339545.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720110" }, { "coordinates": [ { "allele": "T", "end": 1093, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1093, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352617.4:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001339546.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720111" }, { "coordinates": [ { "allele": "T", "end": 973, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 973, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001352618.4:c.628+141A>T" ], "proteinEffect": { "hgvs": "NP_001339547.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720112" }, { "coordinates": [ { "allele": "T", "end": 973, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 973, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365201.3:c.628+141A>T" ], "proteinEffect": { "hgvs": "NP_001352130.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720895" }, { "coordinates": [ { "allele": "T", "end": 891, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 891, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365202.3:c.628+141A>T" ], "proteinEffect": { "hgvs": "NP_001352131.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720896" }, { "coordinates": [ { "allele": "T", "end": 961, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 961, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365203.3:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001352132.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720897" }, { "coordinates": [ { "allele": "T", "end": 879, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 879, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365204.3:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001352133.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720898" }, { "coordinates": [ { "allele": "T", "end": 873, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 873, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365205.3:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001352134.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720899" }, { "coordinates": [ { "allele": "T", "end": 891, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 891, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365206.3:c.628+141A>T" ], "proteinEffect": { "hgvs": "NP_001352135.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720900" }, { "coordinates": [ { "allele": "T", "end": 879, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 879, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365207.3:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001352136.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720901" }, { "coordinates": [ { "allele": "T", "end": 955, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 955, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365208.3:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001352137.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720902" }, { "coordinates": [ { "allele": "T", "end": 751, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 751, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001365209.3:c.406+141A>T" ], "proteinEffect": { "hgvs": "NP_001352138.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720903" }, { "coordinates": [ { "allele": "T", "end": 757, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 757, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001393558.2:c.412+141A>T" ], "proteinEffect": { "hgvs": "NP_001380487.1:n.412+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS726715" }, { "coordinates": [ { "allele": "T", "end": 751, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 751, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001393559.2:c.406+141A>T" ], "proteinEffect": { "hgvs": "NP_001380488.1:n.406+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS726716" }, { "coordinates": [ { "allele": "T", "end": 955, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 955, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001393560.2:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001380489.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS726717" }, { "coordinates": [ { "allele": "T", "end": 399, "endIntronDirection": "-", "endIntronOffset": 31975, "referenceAllele": "A", "start": 399, "startIntronDirection": "-", "startIntronOffset": 31976 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001393561.3:c.55-31976A>T" ], "proteinEffect": { "hgvs": "NP_001380490.1:n.55-31976A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS726718" }, { "coordinates": [ { "allele": "T", "end": 961, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 961, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_005587.6:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_005578.2:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS727650" }, { "coordinates": [ { "allele": "T", "end": 1093, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1093, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400028.1:c.748+141A>T" ], "proteinEffect": { "hgvs": "NP_001386957.1:n.748+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783421" }, { "coordinates": [ { "allele": "T", "end": 957, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 957, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400029.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001386958.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783422" }, { "coordinates": [ { "allele": "T", "end": 914, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 914, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400030.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001386959.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783423" }, { "coordinates": [ { "allele": "T", "end": 994, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 994, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400031.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386960.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783424" }, { "coordinates": [ { "allele": "T", "end": 1124, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1124, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400032.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386961.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783425" }, { "coordinates": [ { "allele": "T", "end": 978, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 978, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400033.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386962.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783426" }, { "coordinates": [ { "allele": "T", "end": 951, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 951, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400034.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386963.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783427" }, { "coordinates": [ { "allele": "T", "end": 1060, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1060, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400035.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386964.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783428" }, { "coordinates": [ { "allele": "T", "end": 1005, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1005, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400036.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386965.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783429" }, { "coordinates": [ { "allele": "T", "end": 1186, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1186, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400037.1:c.628+141A>T" ], "proteinEffect": { "hgvs": "NP_001386966.1:n.628+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783430" }, { "coordinates": [ { "allele": "T", "end": 1151, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1151, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400038.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001386967.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783431" }, { "coordinates": [ { "allele": "T", "end": 1011, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1011, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400039.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001386968.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783432" }, { "coordinates": [ { "allele": "T", "end": 1169, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1169, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400040.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001386969.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783433" }, { "coordinates": [ { "allele": "T", "end": 1132, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1132, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400049.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001386978.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783442" }, { "coordinates": [ { "allele": "T", "end": 1130, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1130, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400050.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001386979.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783443" }, { "coordinates": [ { "allele": "T", "end": 875, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 875, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400051.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001386980.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783444" }, { "coordinates": [ { "allele": "T", "end": 957, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 957, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400052.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001386981.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783445" }, { "coordinates": [ { "allele": "T", "end": 1000, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1000, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400053.1:c.616+141A>T" ], "proteinEffect": { "hgvs": "NP_001386982.1:n.616+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783446" }, { "coordinates": [ { "allele": "T", "end": 951, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 951, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400054.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386983.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783447" }, { "coordinates": [ { "allele": "T", "end": 1005, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1005, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400055.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386984.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783448" }, { "coordinates": [ { "allele": "T", "end": 989, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 989, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400056.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386985.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783449" }, { "coordinates": [ { "allele": "T", "end": 1256, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1256, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400057.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386986.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783450" }, { "coordinates": [ { "allele": "T", "end": 1124, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1124, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400058.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386987.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783451" }, { "coordinates": [ { "allele": "T", "end": 1004, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1004, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400059.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386988.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783452" }, { "coordinates": [ { "allele": "T", "end": 869, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 869, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400060.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386989.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783453" }, { "coordinates": [ { "allele": "T", "end": 1087, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1087, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400061.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386990.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783454" }, { "coordinates": [ { "allele": "T", "end": 978, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 978, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400062.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386991.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783455" }, { "coordinates": [ { "allele": "T", "end": 1314, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1314, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400063.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386992.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783456" }, { "coordinates": [ { "allele": "T", "end": 1295, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1295, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400064.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386993.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783457" }, { "coordinates": [ { "allele": "T", "end": 1014, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1014, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400065.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386994.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783458" }, { "coordinates": [ { "allele": "T", "end": 994, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 994, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400066.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386995.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783459" }, { "coordinates": [ { "allele": "T", "end": 675, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 675, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400067.1:c.412+141A>T" ], "proteinEffect": { "hgvs": "NP_001386996.1:n.412+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783460" }, { "coordinates": [ { "allele": "T", "end": 675, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 675, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400068.1:c.412+141A>T" ], "proteinEffect": { "hgvs": "NP_001386997.1:n.412+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783461" }, { "coordinates": [ { "allele": "T", "end": 619, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 619, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400069.1:c.274+141A>T" ], "proteinEffect": { "hgvs": "NP_001386998.1:n.274+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783462" }, { "coordinates": [ { "allele": "T", "end": 873, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 873, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400070.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001386999.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783463" }, { "coordinates": [ { "allele": "T", "end": 1005, "endIntronDirection": "+", "endIntronOffset": 141, "referenceAllele": "A", "start": 1005, "startIntronDirection": "+", "startIntronOffset": 140 } ], "gene": "http://reg.genome.network/gene/GN006993", "geneNCBI_id": 4205, "geneSymbol": "MEF2A", "hgvs": [ "NM_001400071.1:c.610+141A>T" ], "proteinEffect": { "hgvs": "NP_001387000.1:n.610+141A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS783464" } ], "type": "nucleotide" }