{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7789638", "communityStandardTitle": [ "NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=465966[alleleid]", "alleleId": 465966, "preferredName": "NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/473257", "RCV": [ "RCV000534408", "RCV001755887" ], "variationId": 473257 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-775483-G-A", "id": "16-775483-G-A", "variant": "16:775483 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.775483G>A?assembly=hg19", "id": "chr16:g.775483G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.725483G>A?assembly=hg38", "id": "chr16:g.725483G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/745392382", "rs": 745392382 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-775483-G-A?dataset=gnomad_r2_1", "id": "16-775483-G-A", "variant": "16:775483 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-725483-G-A?dataset=gnomad_r3", "id": "16-725483-G-A", "variant": "16:725483 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-725483-G-A?dataset=gnomad_r4", "id": "16-725483-G-A", "variant": "16:725483 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 725483, "referenceAllele": "G", "start": 725482 } ], "hgvs": [ "NC_000016.10:g.725483G>A", "CM000678.2:g.725483G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 775483, "referenceAllele": "G", "start": 775482 } ], "hgvs": [ "NC_000016.9:g.775483G>A", "CM000678.1:g.775483G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 715484, "referenceAllele": "G", "start": 715483 } ], "hgvs": [ "NC_000016.8:g.715484G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 5991, "referenceAllele": "C", "start": 5990 } ], "hgvs": [ "NG_032932.1:g.5991C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005292" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000423653.6:n.410C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824736" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000682391.1:n.454C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827383" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000345165.10:c.365C>T" ], "proteinEffect": { "hgvs": "ENSP00000316851.5:p.Pro122Leu", "hgvsWellDefined": "ENSP00000316851.5:p.Pro122Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS748280", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345165.10:c.365C>T" }, "RefSeq": { "hgvs": "NM_001378030.1:c.365C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000316851.5:p.Pro122Leu" }, "RefSeq": { "hgvs": "NP_001364959.1:p.Pro122Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000293889.10:c.365C>T" ], "proteinEffect": { "hgvs": "ENSP00000293889.6:p.Pro122Leu", "hgvsWellDefined": "ENSP00000293889.6:p.Pro122Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS253926" }, { "coordinates": [ { "allele": "T", "end": 363, "referenceAllele": "C", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000423653.5:c.-89C>T" ], "proteinEffect": { "hgvs": "ENSP00000458590.1:n.-89C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS287871" }, { "coordinates": [ { "allele": "T", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000439619.6:n.442C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS295512" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "C", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000460023.5:n.365C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS304860" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000463539.5:n.428C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307553" }, { "coordinates": [ { "allele": "T", "end": 571, "referenceAllele": "C", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000466708.5:n.571C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310004" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000471861.5:n.471C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS313965" }, { "coordinates": [ { "allele": "T", "end": 335, "endIntronDirection": "-", "endIntronOffset": 189, "referenceAllele": "C", "start": 335, "startIntronDirection": "-", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000474647.1:n.336-190C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS316111" }, { "coordinates": [ { "allele": "T", "end": 343, "endIntronDirection": "-", "endIntronOffset": 189, "referenceAllele": "C", "start": 343, "startIntronDirection": "-", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000478979.5:n.344-190C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319463" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000481804.5:n.654C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321645" }, { "coordinates": [ { "allele": "T", "end": 676, "referenceAllele": "C", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000482878.5:n.676C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322472" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000485091.5:n.427C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324207" }, { "coordinates": [ { "allele": "T", "end": 435, "referenceAllele": "C", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000538176.5:n.435C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS361179" }, { "coordinates": [ { "allele": "T", "end": 171, "referenceAllele": "C", "start": 170 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "ENST00000544996.1:n.171C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS364863" }, { "coordinates": [ { "allele": "A", "end": 42, "endIntronDirection": "-", "endIntronOffset": 37148, "referenceAllele": "G", "start": 42, "startIntronDirection": "-", "startIntronOffset": 37149 } ], "gene": "http://reg.genome.network/gene/GN007371", "geneNCBI_id": 10232, "geneSymbol": "MSLN", "hgvs": [ "ENST00000620831.4:c.-49-37149G>A" ], "proteinEffect": { "hgvs": "ENSP00000482893.1:n.-49-37149G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405000" }, { "@id": "http://reg.genome.network/allele/PA658676796", "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NM_001031737.2:c.365C>T" ], "proteinEffect": { "hgvs": "NP_001026907.2:p.Pro122Leu", "hgvsWellDefined": "NP_001026907.2:p.Pro122Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS009022" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_005255106.3:c.365C>T" ], "proteinEffect": { "hgvs": "XP_005255163.1:p.Pro122Leu", "hgvsWellDefined": "XP_005255163.1:p.Pro122Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS060839" }, { "coordinates": [ { "allele": "T", "end": 676, "referenceAllele": "C", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_006720838.1:c.587C>T" ], "proteinEffect": { "hgvs": "XP_006720901.1:p.Pro196Leu", "hgvsWellDefined": "XP_006720901.1:p.Pro196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS073831" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_006720843.2:c.365C>T" ], "proteinEffect": { "hgvs": "XP_006720906.1:p.Pro122Leu", "hgvsWellDefined": "XP_006720906.1:p.Pro122Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS073832" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522356.1:c.800C>T" ], "proteinEffect": { "hgvs": "XP_011520658.1:p.Pro267Leu", "hgvsWellDefined": "XP_011520658.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089509" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522357.1:c.800C>T" ], "proteinEffect": { "hgvs": "XP_011520659.1:p.Pro267Leu", "hgvsWellDefined": "XP_011520659.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089510" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522358.1:c.800C>T" ], "proteinEffect": { "hgvs": "XP_011520660.1:p.Pro267Leu", "hgvsWellDefined": "XP_011520660.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089511" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522359.1:c.800C>T" ], "proteinEffect": { "hgvs": "XP_011520661.1:p.Pro267Leu", "hgvsWellDefined": "XP_011520661.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089512" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522360.1:c.800C>T" ], "proteinEffect": { "hgvs": "XP_011520662.1:p.Pro267Leu", "hgvsWellDefined": "XP_011520662.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089513" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522361.1:c.800C>T" ], "proteinEffect": { "hgvs": "XP_011520663.1:p.Pro267Leu", "hgvsWellDefined": "XP_011520663.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089514" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522362.1:c.800C>T" ], "proteinEffect": { "hgvs": "XP_011520664.1:p.Pro267Leu", "hgvsWellDefined": "XP_011520664.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089515" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522363.1:c.800C>T" ], "proteinEffect": { "hgvs": "XP_011520665.1:p.Pro267Leu", "hgvsWellDefined": "XP_011520665.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089516" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522364.1:c.800C>T" ], "proteinEffect": { "hgvs": "XP_011520666.1:p.Pro267Leu", "hgvsWellDefined": "XP_011520666.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089517" }, { "coordinates": [ { "allele": "T", "end": 676, "referenceAllele": "C", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522365.1:c.587C>T" ], "proteinEffect": { "hgvs": "XP_011520667.1:p.Pro196Leu", "hgvsWellDefined": "XP_011520667.1:p.Pro196Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089518" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522366.1:c.578C>T" ], "proteinEffect": { "hgvs": "XP_011520668.1:p.Pro193Leu", "hgvsWellDefined": "XP_011520668.1:p.Pro193Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089519" }, { "coordinates": [ { "allele": "T", "end": 578, "endIntronDirection": "-", "endIntronOffset": 189, "referenceAllele": "C", "start": 578, "startIntronDirection": "-", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522367.1:c.490-190C>T" ], "proteinEffect": { "hgvs": "XP_011520669.1:n.490-190C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS089520" }, { "coordinates": [ { "allele": "T", "end": 578, "endIntronDirection": "-", "endIntronOffset": 189, "referenceAllele": "C", "start": 578, "startIntronDirection": "-", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522368.1:c.490-190C>T" ], "proteinEffect": { "hgvs": "XP_011520670.1:n.490-190C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS089521" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522369.1:c.365C>T" ], "proteinEffect": { "hgvs": "XP_011520671.1:p.Pro122Leu", "hgvsWellDefined": "XP_011520671.1:p.Pro122Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089522" }, { "coordinates": [ { "allele": "T", "end": 343, "endIntronDirection": "-", "endIntronOffset": 189, "referenceAllele": "C", "start": 343, "startIntronDirection": "-", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522370.1:c.268-190C>T" ], "proteinEffect": { "hgvs": "XP_011520672.1:n.268-190C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS089523" }, { "coordinates": [ { "allele": "T", "end": 348, "endIntronDirection": "-", "endIntronOffset": 189, "referenceAllele": "C", "start": 348, "startIntronDirection": "-", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522371.1:c.-18-190C>T" ], "proteinEffect": { "hgvs": "XP_011520673.1:n.-18-190C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS089524" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_006720843.4:c.365C>T" ], "proteinEffect": { "hgvs": "XP_006720906.1:p.Pro122Leu", "hgvsWellDefined": "XP_006720906.1:p.Pro122Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS540178" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522358.2:c.800C>T" ], "proteinEffect": { "hgvs": "XP_011520660.1:p.Pro267Leu", "hgvsWellDefined": "XP_011520660.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546565" }, { "coordinates": [ { "allele": "T", "end": 335, "endIntronDirection": "-", "endIntronOffset": 189, "referenceAllele": "C", "start": 335, "startIntronDirection": "-", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_011522371.2:c.-18-190C>T" ], "proteinEffect": { "hgvs": "XP_011520673.1:n.-18-190C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546566" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_017022929.1:c.800C>T" ], "proteinEffect": { "hgvs": "XP_016878418.1:p.Pro267Leu", "hgvsWellDefined": "XP_016878418.1:p.Pro267Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS573772" }, { "coordinates": [ { "allele": "T", "end": 571, "referenceAllele": "C", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XM_017022930.1:c.-89C>T" ], "proteinEffect": { "hgvs": "XP_016878419.1:n.-89C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573773" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XR_001751835.1:n.889C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598635" }, { "coordinates": [ { "allele": "T", "end": 676, "referenceAllele": "C", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XR_001751836.1:n.676C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598636" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XR_001751837.1:n.454C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598637" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XR_001751838.1:n.833C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598638" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "XR_001751839.1:n.454C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598639" }, { "@id": "http://reg.genome.network/allele/PA658676796", "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NM_001031737.3:c.365C>T" ], "proteinEffect": { "hgvs": "NP_001026907.2:p.Pro122Leu", "hgvsWellDefined": "NP_001026907.2:p.Pro122Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS675742" }, { "@id": "http://reg.genome.network/allele/PA2828735957", "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NM_001378030.1:c.365C>T" ], "proteinEffect": { "hgvs": "NP_001364959.1:p.Pro122Leu", "hgvsWellDefined": "NP_001364959.1:p.Pro122Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721393", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345165.10:c.365C>T" }, "RefSeq": { "hgvs": "NM_001378030.1:c.365C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000316851.5:p.Pro122Leu" }, "RefSeq": { "hgvs": "NP_001364959.1:p.Pro122Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2573074646", "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NM_001378031.1:c.365C>T" ], "proteinEffect": { "hgvs": "NP_001364960.1:p.Pro122Leu", "hgvsWellDefined": "NP_001364960.1:p.Pro122Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS721394" }, { "coordinates": [ { "allele": "T", "end": 299, "endIntronDirection": "-", "endIntronOffset": 189, "referenceAllele": "C", "start": 299, "startIntronDirection": "-", "startIntronOffset": 190 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NM_001378033.1:c.-18-190C>T" ], "proteinEffect": { "hgvs": "NP_001364962.1:n.-18-190C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721396" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NR_165382.1:n.663C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731656" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NR_165383.1:n.397C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731657" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NR_165384.1:n.397C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731658" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NR_165385.1:n.441C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731659" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN014153", "geneNCBI_id": 124093, "geneSymbol": "CCDC78", "hgvs": [ "NR_165386.1:n.441C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731660" } ], "type": "nucleotide" }