{"_id":"chr21:g.27264096C>T","_version":2,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","annotype":"CodingTranscript","bstatistic":825,"chmm":{"bivflnk":0.0,"enh":0.008,"enhbiv":0.0,"het":0.0,"quies":0.118,"reprpc":0.0,"reprpcwk":0.008,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.465,"txflnk":0.0,"txwk":0.386,"znfrpts":0.008},"chrom":21,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.04,"dna":{"helt":2.35,"mgw":0.21,"prot":-3.28,"roll":-0.55},"encode":{"exp":12958.6,"h3k27ac":3.0,"h3k4me1":4.96,"h3k4me3":2.48,"nucleo":1.7},"exon":"17/18","fitcons":0.701516,"gc":0.47,"gene":{"ccds_id":"CCDS13576.1","cds":{"cdna_pos":2183,"cds_pos":2149,"rel_cdna_pos":0.63,"rel_cds_pos":0.93},"feature_id":"ENST00000346798","gene_id":"ENSG00000142192","genename":"APP","prot":{"domain":"tmhmm","protpos":717,"rel_prot_pos":0.93}},"gerp":{"n":5.65,"rs":659.2,"rs_pval":2.97824e-172,"s":5.65},"grantham":29,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":15,"min_dist_tss":6200,"mutindex":120,"naa":"I","oaa":"V","phast_cons":{"mammalian":1.0,"primate":0.996,"vertebrate":1.0},"phred":34,"phylop":{"mammalian":2.821,"primate":0.651,"vertebrate":5.729},"polyphen":{"cat":"probably_damaging","val":0.967},"pos":27264096,"rawscore":7.333889,"ref":"C","segway":"R1","sift":{"cat":"deleterious","val":0.05},"type":"SNV"},"chrom":"21","clinvar":{"_license":"http://bit.ly/2SQdcI0","allele_id":33127,"alt":"T","chrom":"21","cytogenic":"21q21.3","gene":{"id":"351","symbol":"APP"},"hg19":{"end":27264096,"start":27264096},"hg38":{"end":25891784,"start":25891784},"hgvs":{"coding":["NM_000484.4:c.2149G>A","NM_001136016.3:c.2077G>A","NM_001136129.3:c.1756G>A","NM_001136130.3:c.1981G>A","NM_001136131.3:c.1819G>A","NM_001204301.2:c.2095G>A","NM_001204302.2:c.2038G>A","NM_001204303.2:c.1870G>A","NM_001385253.1:c.1981G>A","NM_201413.3:c.2092G>A","NM_201414.3:c.1924G>A"],"genomic":["NC_000021.8:g.27264096C>T","NC_000021.9:g.25891784C>T","NG_007376.2:g.284345G>A"],"protein":["NP_000475.1:p.Val717Ile","NP_001129488.1:p.Val693Ile","NP_001129601.1:p.Val586Ile","NP_001129602.1:p.Val661Ile","NP_001129603.1:p.Val607Ile","NP_001191230.1:p.Val699Ile","NP_001191231.1:p.Val680Ile","NP_001191232.1:p.Val624Ile","NP_001372182.1:p.Val661Ile","NP_958816.1:p.Val698Ile","NP_958817.1:p.Val642Ile","P05067:p.Val717Ile"]},"omim":"104760.0002","rcv":[{"accession":"RCV000019714","clinical_significance":"Pathogenic","conditions":{"identifiers":{"medgen":"C1863052","mondo":"MONDO:0007088","omim":"104300"},"name":"Alzheimer disease type 1 (AD1)","synonyms":["ALZHEIMER DISEASE, FAMILIAL, 1","ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE"]},"last_evaluated":"2022-02-02","number_submitters":3,"origin":"germline","preferred_name":"NM_000484.4(APP):c.2149G>A (p.Val717Ile)","review_status":"criteria provided, multiple submitters, no conflicts"},{"accession":"RCV000020308","clinical_significance":"Pathogenic","conditions":{"identifiers":{"human_phenotype_ontology":"HP:0007213","medgen":"C0002395","mesh":"D000544","mondo":"MONDO:0004975","orphanet":"1020"},"name":"Alzheimer disease","synonyms":["Presenile and senile dementia","Alzheimer's disease"]},"last_evaluated":"2024-11-29","number_submitters":2,"origin":"unknown","preferred_name":"NM_000484.4(APP):c.2149G>A (p.Val717Ile)","review_status":"criteria provided, single submitter"},{"accession":"RCV000084575","clinical_significance":"Pathogenic","conditions":{"identifiers":{"medgen":"C3661900"},"name":"not provided","synonyms":["none provided","RECLASSIFIED - ADRA2C POLYMORPHISM","RECLASSIFIED - ADRB1 POLYMORPHISM"]},"last_evaluated":"2023-12-27","number_submitters":4,"origin":"germline","preferred_name":"NM_000484.4(APP):c.2149G>A (p.Val717Ile)","review_status":"criteria provided, multiple submitters, no conflicts"},{"accession":"RCV002496421","clinical_significance":"Pathogenic","conditions":[{"identifiers":{"medgen":"C2751536","mondo":"MONDO:0011583","omim":"605714","orphanet":"85458"},"name":"Cerebral amyloid angiopathy, APP-related","synonyms":["AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED","Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants"]},{"identifiers":{"medgen":"C1863052","mondo":"MONDO:0007088","omim":"104300"},"name":"Alzheimer disease type 1 (AD1)","synonyms":["ALZHEIMER DISEASE, FAMILIAL, 1","ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE"]}],"last_evaluated":"2021-12-10","number_submitters":1,"origin":"unknown","preferred_name":"NM_000484.4(APP):c.2149G>A (p.Val717Ile)","review_status":"criteria provided, single submitter"},{"accession":"RCV003993747","clinical_significance":"Pathogenic","conditions":{"identifiers":{"medgen":"C2751536","mondo":"MONDO:0011583","omim":"605714","orphanet":"85458"},"name":"Cerebral amyloid angiopathy, APP-related","synonyms":["AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED","Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants"]},"last_evaluated":"2024-02-22","number_submitters":1,"origin":"germline","preferred_name":"NM_000484.4(APP):c.2149G>A (p.Val717Ile)","review_status":"criteria provided, single submitter"}],"ref":"C","rsid":"rs63750264","type":"single nucleotide variant","variant_id":18088},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"I","codon_degeneracy":[0,0,0,0,0,0,0,0],"codonpos":[1,1,1,1,1,1,1,1],"pos":[717,586,642,698,607,693,661,699],"ref":"V","refcodon":["GTC","GTC","GTC","GTC","GTC","GTC","GTC","GTC"]},"alfa":{"african":{"ac":0,"af":0.0,"an":444},"african_american":{"ac":0,"af":0.0,"an":444},"african_others":{"ac":0,"af":0.0,"an":0},"asian":{"ac":0,"af":0.0,"an":0},"east_asian":{"ac":0,"af":0.0,"an":0},"european":{"ac":0,"af":0.0,"an":16896},"latin_american_1":{"ac":0,"af":0.0,"an":354},"latin_american_2":{"ac":0,"af":0.0,"an":18},"other":{"ac":0,"af":0.0,"an":4144},"other_asian":{"ac":0,"af":0.0,"an":0},"south_asian":{"ac":0,"af":0.0,"an":0},"total":{"ac":0,"af":0.0,"an":21856}},"alphamissense":{"pred":["B","B","B","B","B","B","B","B"],"rankscore":0.31808,"score":[0.1028,0.106,0.1183,0.1444,0.1122,0.0979,0.1232,0.1319]},"alt":"T","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":["principal4","alternative1","alternative1","alternative1"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.93564,"score":0.47627},"no_af":{"pred":"D","rankscore":0.93484,"score":0.446353}},"bstatistic":{"converted_rankscore":0.013,"score":993.0},"chagyrskaya_neandertal":["C","C"],"chrom":"21","clinpred":{"pred":"D","rankscore":0.46656,"score":0.804419235094515},"clinvar":{"clinvar_id":"18088","clnsig":"Pathogenic","hgvs":"NC_000021.9:g.25891784C>T","medgen":["C1863052","C2751536","C3661900","C0002395"],"omim":["104300","605714"],"orphanet":["100006","324703","324708","324713","324718","324723","85458","1020"],"review":"criteria_provided,_multiple_submitters,_no_conflicts","trait":["Alzheimer_disease_type_1","Cerebral_amyloid_angiopathy,_APP-related","not_provided","Alzheimer_disease"],"var_source":["ClinGen:CA127791","OMIM:104760.0002","UniProtKB:P05067#VAR_000021"]},"dann":{"rankscore":0.95733,"score":0.9988142926970007},"denisova":["C","C"],"deogen2":{"pred":"D","rankscore":0.85882,"score":0.572774},"eigen":{"phred_coding":7.364139,"raw_coding":0.717064930899781,"raw_coding_rankscore":0.80751},"eigen-pc":{"phred_coding":8.942389,"raw_coding":0.755973533559432,"raw_coding_rankscore":0.86604},"ensembl":{"geneid":["ENSG00000142192","ENSG00000142192","ENSG00000142192","ENSG00000142192","ENSG00000142192","ENSG00000142192","ENSG00000142192","ENSG00000142192"],"proteinid":["ENSP00000284981","ENSP00000346129","ENSP00000345463","ENSP00000350578","ENSP00000352760","ENSP00000387483","ENSP00000398879","ENSP00000351796"],"transcriptid":["ENST00000346798","ENST00000354192","ENST00000348990","ENST00000357903","ENST00000359726","ENST00000440126","ENST00000439274","ENST00000358918"]},"esm1b":{"pred":["T","T","T","D","T","T"],"rankscore":0.57856,"score":[-7.147,-7.379,-7.25,-7.535,-7.244,-7.364]},"eve":{"class10_pred":"U","class20_pred":"U","class25_pred":"U","class30_pred":"U","class40_pred":"U","class50_pred":"U","class60_pred":"U","class70_pred":"B","class75_pred":"B","class80_pred":"B","class90_pred":"B","rankscore":0.42411,"score":0.3259660810552157},"fathmm":{"converted_rankscore":0.95859,"pred":["D","D","D","D","D","D","D"],"score":[-3.85,-3.85,-3.85,-3.85,-3.85,-3.85,-3.85]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.8053,"coding_score":0.98206},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.88059,"coding_score":0.915593},"fitcons":{"gm12878":{"confidence_value":2,"rankscore":0.06304,"score":0.389834},"h1-hesc":{"confidence_value":0,"rankscore":0.87919,"score":0.724815},"huvec":{"confidence_value":0,"rankscore":0.83352,"score":0.714379},"integrated":{"confidence_value":0,"rankscore":0.73137,"score":0.706548}},"gencode_basic":["Y","Y","Y","Y","Y","Y","Y","Y"],"genename":["APP","APP","APP","APP","APP","APP","APP","APP"],"genocanyon":{"rankscore":0.74766,"score":0.999999999999962},"gerp":{"91_mammals":{"rankscore":0.77318,"score":4.05}},"gerp++":{"nr":5.65,"rs":5.65,"rs_rankscore":0.86881},"gmvp":{"rankscore":0.83638,"score":0.8367837302829427},"hg18":{"end":26185967,"start":26185967},"hg19":{"end":27264096,"start":27264096},"hg38":{"end":25891784,"start":25891784},"hgvsc":["c.2149G>A","c.1756G>A","c.1924G>A","c.1981G>A","c.2077G>A","c.2095G>A","c.1819G>A","c.2092G>A"],"hgvsp":["p.Val642Ile","p.Val607Ile","p.V693I","p.Val693Ile","p.Val586Ile","p.Val661Ile","p.V661I","p.V699I","p.Val698Ile","p.Val699Ile","p.Val717Ile","p.V698I","p.V586I","p.V642I","p.V717I","p.V607I"],"interpro":{"domain":["Beta-amyloid precursor protein C-terminal","Beta-amyloid precursor protein C-terminal","Beta-amyloid precursor protein C-terminal"]},"list-s2":{"pred":["D","D","D","D","D","D","D","D"],"rankscore":0.88539,"score":[0.959904,0.959904,0.959904,0.959904,0.959904,0.959904,0.959904,0.968403]},"lrt":{"converted_rankscore":0.8433,"omega":0.0,"pred":"D","score":0.0},"m-cap":{"pred":"D","rankscore":0.83057,"score":0.148683},"metalr":{"pred":"D","rankscore":0.96055,"score":0.8812},"metarnn":{"pred":["D","D","D","D","D","D","D","D"],"rankscore":0.80643,"score":[0.81386125,0.81386125,0.81386125,0.81386125,0.81386125,0.81386125,0.81386137,0.81386137]},"metasvm":{"pred":"D","rankscore":0.9594,"score":0.9187},"mpc":{"rankscore":0.76684,"score":1.06764733379},"mutationassessor":{"pred":"L","rankscore":0.24501,"score":0.975},"mutationtaster":{"aae":["V717I","V586I","V642I","V698I","V661I","V699I","V661I","V693I","V607I"],"converted_rankscore":0.81001,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D","D","D","D","D","D"],"score":[1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0]},"mutformer":{"rankscore":0.96308,"score":0.9868705},"mutpred":{"aa_change":"V717I","accession":"P05067","pred":{"mechanism":"Loss of catalytic residue at V717","p_val":0.0042},"rankscore":0.72247,"score":0.593},"mvp":{"rankscore":0.98531,"score":[0.985469416376,0.985469416376,0.985469416376,0.985469416376,0.985469416376,0.985469416376,0.985469416376,0.985469416376]},"phactboost":{"rankscore":0.8517,"score":0.979508008655471},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.85391,"score":0.998},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.80644,"score":7.514},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.61989,"score":7.613}},"polyphen2":{"hdiv":{"pred":["D","D","D","D","D"],"rankscore":0.90584,"score":[0.999,1.0,0.981,0.981,0.999]},"hvar":{"pred":["D","D","D","D","D"],"rankscore":0.86255,"score":[0.997,0.996,0.931,0.931,0.997]}},"primateai":{"pred":"T","rankscore":0.70699,"score":0.724466621876},"provean":{"converted_rankscore":0.1972,"pred":["N","N","N","N","N","N","N"],"score":[-0.69,-0.67,-0.64,-0.69,-0.69,-0.65,-0.63]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.92664,"score":[0.78,0.78,0.78,0.78,0.78,0.78,0.78,0.78]},"rsid":"rs63750264","sift":{"converted_rankscore":0.31383,"pred":["T","T","T","T","T","T","T"],"score":[0.105,0.167,0.154,0.11,0.102,0.094,0.158]},"sift4g":{"converted_rankscore":0.31527,"pred":["T","T","T","T","T","T","T","T"],"score":[0.165,0.174,0.179,0.228,0.235,0.241,0.159,0.164]},"siphy_29way":{"logodds_rankscore":0.95998,"logodds_score":19.6915,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":[1,1,1,1,2,2,1,5],"uniprot":[{"acc":"P05067","entry":"A4_HUMAN"},{"acc":"P05067-10","entry":"A4_HUMAN"},{"acc":"P05067-4","entry":"A4_HUMAN"},{"acc":"P05067-8","entry":"A4_HUMAN"},{"acc":"A0A0A0MRG2","entry":"A0A0A0MRG2_HUMAN"},{"acc":"P05067-11","entry":"A4_HUMAN"},{"acc":"E9PG40","entry":"E9PG40_HUMAN"},{"acc":"P05067-9","entry":"A4_HUMAN"}],"varity":{"er":{"rankscore":0.60822,"score":0.35244957},"er_loo":{"rankscore":0.57904,"score":0.3194289},"r":{"rankscore":0.57986,"score":0.3619673},"r_loo":{"rankscore":0.49572,"score":0.26503333}},"vep_canonical":"YES","vest4":{"rankscore":0.87481,"score":[0.877,0.838,0.835,0.817,0.835,0.806,0.861,0.873]},"vindijia_neandertal":["C","C"]},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"C","freq":{"dbgap_popfreq":1.0}},{"allele":"A","freq":{"dbgap_popfreq":0.0}},{"allele":"T","freq":{"dbgap_popfreq":0.0}}],"alt":"T","chrom":"21","citations":[1520398,1671712,1678057,1678058,1679288,1908231,1925564,7686976,7845465,8290965,8886002,10611368,10867787,14741101,16505331,20301414,26544037,30665447],"dbsnp_build":156,"gene":{"geneid":351,"is_pseudo":false,"name":"amyloid beta precursor protein","rnas":[{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":2298,"seq_id":"NM_000484.4"},"hgvs":"NM_000484.4:c.2149=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":716,"seq_id":"NP_000475.1"}}},"protein_product":{"refseq":"NP_000475.1"},"refseq":"NM_000484.4","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":2272,"seq_id":"NM_001136016.3"},"hgvs":"NM_001136016.3:c.2077=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":692,"seq_id":"NP_001129488.1"}}},"protein_product":{"refseq":"NP_001129488.1"},"refseq":"NM_001136016.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":1905,"seq_id":"NM_001136129.3"},"hgvs":"NM_001136129.3:c.1756=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":585,"seq_id":"NP_001129601.1"}}},"protein_product":{"refseq":"NP_001129601.1"},"refseq":"NM_001136129.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":2130,"seq_id":"NM_001136130.3"},"hgvs":"NM_001136130.3:c.1981=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":660,"seq_id":"NP_001129602.1"}}},"protein_product":{"refseq":"NP_001129602.1"},"refseq":"NM_001136130.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":2010,"seq_id":"NM_001136131.3"},"hgvs":"NM_001136131.3:c.1819=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":606,"seq_id":"NP_001129603.1"}}},"protein_product":{"refseq":"NP_001129603.1"},"refseq":"NM_001136131.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":2244,"seq_id":"NM_001204301.2"},"hgvs":"NM_001204301.2:c.2095=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":698,"seq_id":"NP_001191230.1"}}},"protein_product":{"refseq":"NP_001191230.1"},"refseq":"NM_001204301.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":2187,"seq_id":"NM_001204302.2"},"hgvs":"NM_001204302.2:c.2038=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":679,"seq_id":"NP_001191231.1"}}},"protein_product":{"refseq":"NP_001191231.1"},"refseq":"NM_001204302.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":2019,"seq_id":"NM_001204303.2"},"hgvs":"NM_001204303.2:c.1870=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":623,"seq_id":"NP_001191232.1"}}},"protein_product":{"refseq":"NP_001191232.1"},"refseq":"NM_001204303.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":2130,"seq_id":"NM_001385253.1"},"hgvs":"NM_001385253.1:c.1981=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":660,"seq_id":"NP_001372182.1"}}},"protein_product":{"refseq":"NP_001372182.1"},"refseq":"NM_001385253.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":2241,"seq_id":"NM_201413.3"},"hgvs":"NM_201413.3:c.2092=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":697,"seq_id":"NP_958816.1"}}},"protein_product":{"refseq":"NP_958816.1"},"refseq":"NM_201413.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GTC","inserted_sequence":"GTC","position":2073,"seq_id":"NM_201414.3"},"hgvs":"NM_201414.3:c.1924=","protein":{"variant":{"spdi":{"deleted_sequence":"V","inserted_sequence":"V","position":641,"seq_id":"NP_958817.1"}}},"protein_product":{"refseq":"NP_958817.1"},"refseq":"NM_201414.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]}],"strand":"-","symbol":"APP"},"hg19":{"end":27264096,"start":27264096},"ref":"C","rsid":"rs63750264","vartype":"snv"},"hg19":{"end":27264096,"start":27264096},"mutdb":{"_license":"http://bit.ly/2SQ6fXA","alt":"A","chrom":"21","hg19":{"end":27264096,"start":27264096},"mutpred_score":0.685,"ref":"G","rsid":"rs63750264","strand":"m","uniprot_id":"VAR_000021"},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3633","position":"2349"},"cds":{"length":"2313","position":"2149"},"effect":"missense_variant","feature_id":"NM_000484.3","feature_type":"transcript","gene_id":"APP","genename":"APP","hgvs_c":"c.2149G>A","hgvs_p":"p.Val717Ile","protein":{"length":"770","position":"717"},"putative_impact":"MODERATE","rank":"17","total":"18","transcript_biotype":"protein_coding"},{"cdna":{"length":"3557","position":"2273"},"cds":{"length":"2241","position":"2077"},"effect":"missense_variant","feature_id":"NM_001136016.3","feature_type":"transcript","gene_id":"APP","genename":"APP","hgvs_c":"c.2077G>A","hgvs_p":"p.Val693Ile","protein":{"length":"746","position":"693"},"putative_impact":"MODERATE","rank":"16","total":"17","transcript_biotype":"protein_coding"},{"cdna":{"length":"3240","position":"1956"},"cds":{"length":"1920","position":"1756"},"effect":"missense_variant","feature_id":"NM_001136129.2","feature_type":"transcript","gene_id":"APP","genename":"APP","hgvs_c":"c.1756G>A","hgvs_p":"p.Val586Ile","protein":{"length":"639","position":"586"},"putative_impact":"MODERATE","rank":"14","total":"15","transcript_biotype":"protein_coding"},{"cdna":{"length":"3465","position":"2181"},"cds":{"length":"2145","position":"1981"},"effect":"missense_variant","feature_id":"NM_001136130.2","feature_type":"transcript","gene_id":"APP","genename":"APP","hgvs_c":"c.1981G>A","hgvs_p":"p.Val661Ile","protein":{"length":"714","position":"661"},"putative_impact":"MODERATE","rank":"16","total":"17","transcript_biotype":"protein_coding"},{"cdna":{"length":"3579","position":"2295"},"cds":{"length":"2259","position":"2095"},"effect":"missense_variant","feature_id":"NM_001204301.1","feature_type":"transcript","gene_id":"APP","genename":"APP","hgvs_c":"c.2095G>A","hgvs_p":"p.Val699Ile","protein":{"length":"752","position":"699"},"putative_impact":"MODERATE","rank":"16","total":"17","transcript_biotype":"protein_coding"},{"cdna":{"length":"3522","position":"2238"},"cds":{"length":"2202","position":"2038"},"effect":"missense_variant","feature_id":"NM_001204302.1","feature_type":"transcript","gene_id":"APP","genename":"APP","hgvs_c":"c.2038G>A","hgvs_p":"p.Val680Ile","protein":{"length":"733","position":"680"},"putative_impact":"MODERATE","rank":"15","total":"16","transcript_biotype":"protein_coding"},{"cdna":{"length":"3354","position":"2070"},"cds":{"length":"2034","position":"1870"},"effect":"missense_variant","feature_id":"NM_001204303.1","feature_type":"transcript","gene_id":"APP","genename":"APP","hgvs_c":"c.1870G>A","hgvs_p":"p.Val624Ile","protein":{"length":"677","position":"624"},"putative_impact":"MODERATE","rank":"14","total":"15","transcript_biotype":"protein_coding"},{"cdna":{"length":"3576","position":"2292"},"cds":{"length":"2256","position":"2092"},"effect":"missense_variant","feature_id":"NM_201413.2","feature_type":"transcript","gene_id":"APP","genename":"APP","hgvs_c":"c.2092G>A","hgvs_p":"p.Val698Ile","protein":{"length":"751","position":"698"},"putative_impact":"MODERATE","rank":"16","total":"17","transcript_biotype":"protein_coding"},{"cdna":{"length":"3408","position":"2124"},"cds":{"length":"2088","position":"1924"},"effect":"missense_variant","feature_id":"NM_201414.2","feature_type":"transcript","gene_id":"APP","genename":"APP","hgvs_c":"c.1924G>A","hgvs_p":"p.Val642Ile","protein":{"length":"695","position":"642"},"putative_impact":"MODERATE","rank":"15","total":"16","transcript_biotype":"protein_coding"},{"cdna":{"length":"3295","position":"2011"},"cds":{"length":"1983","position":"1819"},"effect":"missense_variant","feature_id":"NM_001136131.2","feature_type":"transcript","gene_id":"APP","genename":"APP","hgvs_c":"c.1819G>A","hgvs_p":"p.Val607Ile","protein":{"length":"660","position":"607"},"putative_impact":"MODERATE","rank":"15","total":"16","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"27264096","ref":"C"}}