### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATRIP) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "ATRIP" "ATR interacting protein" "3" "p24.3-p22.1" "unknown" "NC_000003.11" "UD_136018179316" "" "http://www.LOVD.nl/ATRIP" "" "1" "33499" "84126" "606605" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ATRIP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-18 11:48:41" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003155" "ATRIP" "transcript variant 1" "001" "NM_130384.2" "" "NP_569055.1" "" "" "" "-136" "2477" "2376" "48488114" "48507054" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00126" "SCKL" "Seckel syndrome (SCKL)" "" "" "" "" "" "00006" "2013-05-07 07:32:22" "00006" "2023-03-14 15:38:11" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00885" "AGS1" "Aicardi-Goutieres syndrome, type 1, dominant and recessive (AGS1)" "AD;AR" "225750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00886" "CHBL1" "Chilblain lupus, type 1 (CHBL1)" "AD" "610448" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-18 14:25:22" "00887" "RVCL" "vasculopathy, retinal, with cerebral leukodystrophy (RVCL)" "AD" "192315" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-18 14:22:57" "01417" "SLE" "lupus erythematosus, systemic, susceptibility to (SLE)" "AD" "152700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 44 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00112321" "" "" "" "1" "" "01534" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Brazil" "" "0" "" "" "" "" "00112325" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112329" "" "" "" "8" "" "01534" "{PMID:Crow 2006:16845398}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112330" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112332" "" "" "" "1" "" "01534" "{PMID:Ramantani 2010:20131292}" "compound heterozygous mutation with R114H" "" "" "" "" "0" "" "" "" "" "00112335" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112336" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112337" "" "" "" "18" "" "01534" "{PMID:Crow 2006:16845398}" "homozygous and compound heterozygous mutation for AGS1, also identied as heterozygous mutation in SLE patient" "" "" "" "" "0" "" "" "" "" "00112338" "" "" "" "5" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "one case with heterozygosity for the RNASEH2B mutation c.529G>A as well - unclear significance" "" "" "" "" "0" "" "" "" "" "00112339" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112340" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112341" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112342" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112343" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "single heterozygous mutation - second, if present, uncharacterised" "" "" "" "" "0" "" "" "" "" "00112344" "" "" "" "1" "" "01534" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Belgium" "" "0" "" "" "" "" "00112346" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112348" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17357087}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112351" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112353" "" "" "" "1" "" "01534" "{PMID:Ramantani 2010:20131292}" "compound heterozygous mutation with R114H" "" "" "" "" "0" "" "" "" "" "00112354" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112359" "" "" "" "2" "" "01534" "{PMID:Crow 2006:16845398}" "compound heterozygous mutation with R114H" "" "" "" "" "0" "" "" "" "" "00112361" "" "" "" "2" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112362" "" "" "" "1" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112363" "" "" "" "2" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112364" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112365" "" "" "" "1" "" "01534" "{PMID:Ramantani 2010:20131292}" "compound heterozygous mutation with R114H" "" "" "" "" "0" "" "" "" "" "00112366" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112368" "" "" "" "1" "" "01534" "{PMID:Richards 2007:17660820}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112372" "" "" "" "1" "" "01534" "{PMID:Richards 2007:17660820}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112374" "" "" "" "1" "" "01534" "{PMID:Ramantani 2010:20131292}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112375" "" "" "" "2" "" "01534" "{PMID:Rice 2007:17846997}" "homozygous mutation" "" "" "" "" "0" "" "" "" "" "00112376" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112377" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112379" "" "" "" "1" "" "01534" "{PMID:Gruver 2011:21131853}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112380" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112381" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00112382" "" "" "" "1" "" "01534" "{PMID:Lee-Kirsch 2007:17660818}" "heterozygous mutation" "" "" "" "" "0" "" "" "" "" "00248273" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00390041" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1517" "00392914" "" "" "" "1" "" "00000" "{PMID:Bergant 2021:33807868}" "" "" "" "Italy" "" "0" "" "" "" "P12" "00426946" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 50, individual 59" "F" "" "" "" "0" "" "" "" "50_59" "00447956" "" "" "" "1" "" "03736" "{DOI:Duthoo 2025:10.1101/2024.07.22.24310550}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "?" "Belgium" "" "0" "" "" "" "Fam1Pat" "00462486" "" "" "" "1" "" "04802" "{DOI:Duthoo 2025:10.1101/2024.07.22.24310550}" "" "M" "yes" "India" "" "0" "" "" "" "F46.1" "00462568" "" "" "" "1" "" "00006" "{DOI:Ogi 2012:23144622}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Japan" "" "0" "" "" "India-Gujarati" "CV1720" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00112321" "00885" "00112325" "00885" "00112329" "00885" "00112330" "00885" "00112332" "00885" "00112335" "00885" "00112336" "00885" "00112337" "00885" "00112338" "00885" "00112339" "00885" "00112340" "00885" "00112341" "00885" "00112342" "00885" "00112343" "00885" "00112344" "00885" "00112346" "00885" "00112348" "00886" "00112351" "01417" "00112353" "00885" "00112354" "00885" "00112359" "00885" "00112361" "00885" "00112362" "00885" "00112363" "00885" "00112364" "01417" "00112365" "00885" "00112366" "01417" "00112368" "00887" "00112372" "00887" "00112374" "00885" "00112375" "00885" "00112376" "00885" "00112377" "01417" "00112379" "00887" "00112380" "01417" "00112381" "01417" "00112382" "01417" "00248273" "00318" "00390041" "04214" "00392914" "04214" "00426946" "04214" "00447956" "05421" "00462486" "05421" "00462568" "00126" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00126, 00318, 00885, 00886, 00887, 01417, 04214, 05421 ## Count = 44 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000087885" "00885" "00112321" "01534" "Unknown" "" "Aicardi Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087889" "00885" "00112325" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087893" "00885" "00112329" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087894" "00885" "00112330" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087896" "00885" "00112332" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087899" "00885" "00112335" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087900" "00885" "00112336" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087901" "00885" "00112337" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087902" "00885" "00112338" "01536" "Familial, autosomal recessive" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087903" "00885" "00112339" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087904" "00885" "00112340" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087905" "00885" "00112341" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087906" "00885" "00112342" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087907" "00885" "00112343" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087908" "00885" "00112344" "01534" "Unknown" "" "Aicardi Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087910" "00885" "00112346" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087912" "00886" "00112348" "01534" "Unknown" "" "familial chilblain lupus" "" "" "" "" "" "" "" "" "" "" "0000087915" "01417" "00112351" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "0000087917" "00885" "00112353" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087918" "00885" "00112354" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087923" "00885" "00112359" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087925" "00885" "00112361" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087926" "00885" "00112362" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087927" "00885" "00112363" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087928" "01417" "00112364" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "0000087929" "00885" "00112365" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087930" "01417" "00112366" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "0000087932" "00887" "00112368" "01534" "Unknown" "" "retinal vasculopathy with cerebral leukodystrophy" "" "" "" "" "" "" "" "" "" "" "0000087936" "00887" "00112372" "01534" "Unknown" "" "retinal vasculopathy with cerebral leukodystrophy" "" "" "" "" "" "" "" "" "" "" "0000087938" "00885" "00112374" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087939" "00885" "00112375" "01534" "Unknown" "" "Aicardi-Goutieres Syndrome 1" "" "" "" "" "" "" "" "" "" "" "0000087940" "00885" "00112376" "01536" "Unknown" "" "Aicardi-Goutieres Syndrome" "" "" "" "" "" "" "" "" "" "" "0000087941" "01417" "00112377" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "0000087943" "00887" "00112379" "01534" "Unknown" "" "Retinal Vasculopathy with Cerebral Leukodystrophy" "" "" "" "" "" "" "" "" "" "" "0000087944" "01417" "00112380" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "0000087945" "01417" "00112381" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "0000087946" "01417" "00112382" "01534" "Unknown" "" "systemic lupus erythematosus" "" "" "" "" "" "" "" "" "" "" "0000187282" "00318" "00248273" "01474" "Unknown" "" "55y lobular breast cancer, subtype luminal A" "55y" "" "" "" "" "" "" "" "breast cancer" "" "0000283581" "04214" "00390041" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "early-onset primary angle closure glaucoma" "early-onset primary angle closure glaucoma" "" "0000286154" "04214" "00392914" "00000" "Familial, autosomal dominant" "58y" "endotheliopathy, retinopathy, nephropathy, hepatopathy and leukopathy; dysarthria, dysmetria, wide gait and psychomotor impairment; pancytopenia with low erythropoietin as well as low thyroid hormone levels" "35y" "" "" "" "" "" "" "HERNS syndrome" "" "" "0000318084" "04214" "00426946" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" "" "0000350043" "05421" "00462486" "00006" "Familial, autosomal recessive" "" "see paper; ..., facial dysmorphism, short stature, microcephaly, moderate intellectual disabiity, recurrent respiratory tract infections" "" "" "" "" "" "" "" "" "microcephaly" "" "0000350045" "05421" "00447956" "03736" "Familial, autosomal recessive" "" "see paper; ..., birth severe microcephaly; developmental delay, dysmorphic features, failure to thrive, growth retardation, grossly normal skeletal development, mild intellectual disability" "" "" "" "" "" "" "" "" "microcephaly" "" "0000350046" "00126" "00462568" "00006" "Familial, autosomal recessive" "00y14m" "see paper; ..., severe microcephaly, growth delay, dysmorphic facial feature; birth weight 2.06kg, OFC 27.1cm; 14m-- weight -5 SD, height -5 SD, OFC -9 SD; micrognathia, receding forehead, prominent nose; dental crowding; small ear lobes; bilateral 5th finger clinodactyly; delayed bone age (wrist/hips), symmetric dwarfism; MRI 14m-generalised cerebral atrophy, normal ventricular systems, delayed myelination anterior limb internal capsule, pituitary present though unusual shape with absent fossa" "" "" "" "" "" "" "" "" "microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 44 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000112779" "00112321" "1" "01534" "01534" "2012-11-30 16:54:20" "" "" "SEQ" "DNA" "" "" "0000112783" "00112325" "1" "01536" "01536" "2012-07-21 18:27:12" "" "" "SEQ" "DNA" "" "" "0000112787" "00112329" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:47:50" "SEQ" "DNA" "" "" "0000112788" "00112330" "1" "01536" "01536" "2012-01-14 14:35:31" "" "" "SEQ" "DNA" "" "" "0000112790" "00112332" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:54:53" "SEQ" "DNA" "" "" "0000112793" "00112335" "1" "01536" "01536" "2012-01-17 19:11:32" "" "" "SEQ" "DNA" "" "" "0000112794" "00112336" "1" "01536" "01536" "2012-01-14 14:52:52" "" "" "SEQ" "DNA" "" "" "0000112795" "00112337" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:47:50" "SEQ" "DNA" "" "" "0000112796" "00112338" "1" "01536" "01536" "2012-01-14 14:05:25" "01536" "2012-09-29 18:05:18" "SEQ" "DNA" "" "" "0000112797" "00112339" "1" "01536" "01536" "2012-01-14 14:29:10" "" "" "SEQ" "DNA" "" "" "0000112798" "00112340" "1" "01536" "01536" "2012-01-14 15:02:43" "" "" "SEQ" "DNA" "" "" "0000112799" "00112341" "1" "01536" "01536" "2012-01-14 15:13:25" "" "" "SEQ" "DNA" "" "" "0000112800" "00112342" "1" "01536" "01536" "2012-01-17 13:51:09" "" "" "SEQ" "DNA" "" "" "0000112801" "00112343" "1" "01536" "01536" "2012-03-24 18:11:01" "" "" "SEQ" "DNA" "" "" "0000112802" "00112344" "1" "01534" "01534" "2012-11-30 16:59:15" "" "" "SEQ" "DNA" "" "" "0000112804" "00112346" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112806" "00112348" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:52:25" "SEQ" "DNA" "" "" "0000112809" "00112351" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112811" "00112353" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:54:53" "SEQ" "DNA" "" "" "0000112812" "00112354" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112817" "00112359" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:47:50" "SEQ" "DNA" "" "" "0000112819" "00112361" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112820" "00112362" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:58:06" "SEQ" "DNA" "" "" "0000112821" "00112363" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112822" "00112364" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112823" "00112365" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:48:53" "SEQ" "DNA" "" "" "0000112824" "00112366" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112826" "00112368" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:57:14" "SEQ" "DNA" "" "" "0000112830" "00112372" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:57:14" "SEQ" "DNA" "" "" "0000112832" "00112374" "1" "01534" "01534" "2011-02-17 08:55:37" "01534" "2012-06-01 13:48:53" "SEQ" "DNA" "" "" "0000112833" "00112375" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:51:14" "SEQ" "DNA" "" "" "0000112834" "00112376" "1" "01536" "01536" "2012-01-17 18:48:51" "" "" "SEQ" "DNA" "" "" "0000112835" "00112377" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112837" "00112379" "1" "01534" "01534" "2011-07-22 16:03:44" "01534" "2012-07-31 14:44:25" "SEQ" "DNA" "" "" "0000112838" "00112380" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112839" "00112381" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000112840" "00112382" "1" "01534" "01534" "2008-06-06 13:17:24" "01534" "2012-06-01 13:50:04" "SEQ" "DNA" "" "" "0000249378" "00248273" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000391282" "00390041" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000394161" "00392914" "1" "00000" "03840" "2021-11-25 10:23:18" "" "" "SEQ" "DNA" "blood" "whole genome sequencing after negative exome" "0000428266" "00426946" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000449529" "00447956" "1" "03736" "03736" "2024-02-04 19:18:48" "" "" "arraySNP;PCRq;RT-PCR;SEQ;SEQ-NG;Western" "DNA;RNA;protein" "" "" "0000464119" "00462486" "1" "04802" "04802" "2025-02-11 11:11:51" "" "" "SEQ-NG" "DNA" "Blood" "" "0000464201" "00462568" "1" "00006" "00006" "2025-02-13 16:58:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{geneid}}" "0000112779" "TREX1" "0000112783" "TREX1" "0000112787" "TREX1" "0000112788" "TREX1" "0000112790" "TREX1" "0000112793" "TREX1" "0000112794" "TREX1" "0000112795" "TREX1" "0000112796" "TREX1" "0000112797" "TREX1" "0000112798" "TREX1" "0000112799" "TREX1" "0000112800" "TREX1" "0000112801" "TREX1" "0000112802" "TREX1" "0000112804" "TREX1" "0000112806" "TREX1" "0000112809" "TREX1" "0000112811" "TREX1" "0000112812" "TREX1" "0000112817" "TREX1" "0000112819" "TREX1" "0000112820" "TREX1" "0000112821" "TREX1" "0000112822" "TREX1" "0000112823" "TREX1" "0000112824" "TREX1" "0000112826" "TREX1" "0000112830" "TREX1" "0000112832" "TREX1" "0000112833" "TREX1" "0000112834" "TREX1" "0000112835" "TREX1" "0000112837" "TREX1" "0000112838" "TREX1" "0000112839" "TREX1" "0000112840" "TREX1" "0000391282" "TREX1" "0000394161" "TREX1" "0000428266" "ABCA4" "0000449529" "ATRIP" "0000464119" "ATRIP" "0000464201" "ATRIP" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 187 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000181475" "0" "99" "3" "48508760" "48508760" "dup" "0" "01534" "TREX1_000003" "g.48508760dup" "" "{PMID:Richards 2007:17660820}" "" "" "" "Germline" "" "" "0" "" "" "g.48467361dup" "" "pathogenic" "" "0000181476" "0" "99" "3" "48508904" "48508904" "dup" "0" "01534" "TREX1_000004" "g.48508904dup" "" "{PMID:Richards 2007:17660820}" "" "" "" "Germline" "" "" "0" "" "" "g.48467505dup" "" "pathogenic" "" "0000181478" "0" "99" "3" "48508395" "48508395" "subst" "0.000192484" "01534" "TREX1_000006" "g.48508395G>A" "" "{PMID:Crow 2006:16845398}" "" "" "Functional tests reported with variant" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181479" "3" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181480" "0" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181481" "0" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181483" "0" "95" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181486" "11" "75" "3" "48508395" "48508395" "subst" "0.000192484" "01536" "TREX1_000006" "g.48508395G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "likely pathogenic" "" "0000181487" "2" "99" "3" "48508395" "48508395" "subst" "0.000192484" "01534" "TREX1_000006" "g.48508395G>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "Functional tests reported with variant" "Germline" "" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "" "0000181488" "0" "77" "3" "48508653" "48508655" "dup" "0" "01534" "TREX1_000007" "g.48508653_48508655dup" "" "{PMID:Crow 2006:16845398}" "" "598_600dupGAT" "" "Germline" "" "" "0" "" "" "g.48467254_48467256dup" "" "likely pathogenic" "" "0000181490" "0" "31" "3" "48508429" "48508429" "dup" "0" "01534" "TREX1_000008" "g.48508429dup" "" "{PMID:Rice 2007:17357087}" "" "" "" "Germline" "" "" "0" "" "" "g.48467030dup" "" "likely benign" "" "0000181493" "0" "55" "3" "48508968" "48508968" "subst" "0.000118341" "01534" "TREX1_000012" "g.48508968A>G" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467569A>G" "" "VUS" "" "0000181494" "0" "55" "3" "48508968" "48508968" "subst" "0.000118341" "01534" "TREX1_000012" "g.48508968A>G" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467569A>G" "" "VUS" "" "0000181497" "0" "95" "3" "48508106" "48508106" "subst" "0" "01536" "TREX1_000013" "g.48508106G>A" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466707G>A" "" "pathogenic" "" "0000181499" "0" "57" "3" "48508112" "48508112" "dup" "0" "01534" "TREX1_000014" "g.48508112dup" "" "{PMID:Crow 2006:16845398}" "" "58_59insG" "" "Germline" "" "" "0" "" "" "g.48466713dup" "" "VUS" "" "0000181508" "3" "95" "3" "48508266" "48508267" "dup" "0" "01536" "TREX1_000018" "g.48508266_48508267dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "212_213dupTG" "" "Germline" "" "" "0" "" "" "g.48466867_48466868dup" "" "pathogenic" "" "0000181509" "2" "95" "3" "48508290" "48508297" "dup" "0" "01536" "TREX1_000032" "g.48508290_48508297dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466891_48466898dup" "" "pathogenic" "" "0000181510" "0" "57" "3" "48508420" "48508422" "dup" "0" "01534" "TREX1_000019" "g.48508420_48508422dup" "" "{PMID:Rice 2007:17846997}" "" "366_368dupGGC" "" "Germline" "" "" "0" "" "" "g.48467021_48467023dup" "" "VUS" "" "0000181512" "0" "57" "3" "48508663" "48508716" "dup" "0" "01534" "TREX1_000021" "g.48508663_48508716dup" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467264_48467317dup" "" "VUS" "" "0000181513" "0" "95" "3" "48508663" "48508716" "dup" "0" "01534" "TREX1_000021" "g.48508663_48508716dup" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467264_48467317dup" "" "pathogenic" "" "0000181514" "0" "55" "3" "48508679" "48508682" "dup" "0" "01534" "TREX1_000022" "g.48508679_48508682dup" "" "{PMID:Rice 2007:17846997}" "" "625_628dupCAGT" "" "Germline" "" "" "0" "" "" "g.48467280_48467283dup" "" "VUS" "" "0000181515" "0" "57" "3" "48508922" "48508939" "del" "0" "01534" "TREX1_000023" "g.48508922_48508939del" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467523_48467540del" "" "VUS" "" "0000181516" "3" "95" "3" "48508922" "48508939" "del" "0" "01536" "TREX1_000023" "g.48508922_48508939del" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48467523_48467540del" "" "pathogenic" "" "0000181518" "0" "55" "3" "48508554" "48508554" "del" "4.078E-6" "01534" "TREX1_000025" "g.48508554del" "" "{PMID:Rice 2007:17846997}" "" "" "" "Germline" "" "" "0" "" "" "g.48467155del" "" "VUS" "" "0000181519" "0" "55" "3" "48508527" "48508527" "subst" "4.48529E-5" "01534" "TREX1_000026" "g.48508527C>T" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467128C>T" "" "VUS" "" "0000181520" "0" "99" "3" "48508689" "48508689" "del" "0" "01534" "TREX1_000027" "g.48508689del" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "634delC" "Functional tests reported with this variant" "Germline" "" "" "0" "" "" "g.48467290del" "" "pathogenic" "" "0000181521" "0" "95" "3" "48508689" "48508689" "del" "0" "01534" "TREX1_000027" "g.48508689del" "" "{PMID:Ramantani 2010:20131292}" "" "" "" "Germline" "" "" "0" "" "" "g.48467290del" "" "pathogenic" "" "0000181522" "0" "55" "3" "48508733" "48508733" "subst" "0.000113834" "01534" "TREX1_000028" "g.48508733G>A" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467334G>A" "" "VUS" "" "0000181525" "0" "55" "3" "48508923" "48508923" "subst" "5.69471E-5" "01534" "TREX1_000031" "g.48508923C>T" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467524C>T" "" "VUS" "" "0000181526" "0" "55" "3" "48508971" "48508971" "subst" "4.08547E-6" "01534" "TREX1_000033" "g.48508971G>C" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467572G>C" "" "VUS" "" "0000181527" "0" "95" "3" "48508204" "48508205" "del" "0" "01534" "TREX1_000036" "g.48508204_48508205del" "" "{PMID:Ramantani 2010:20131292}" "" "150_151delTC" "" "Germline" "" "" "0" "" "" "g.48466805_48466806del" "" "pathogenic" "" "0000181529" "0" "95" "3" "48508554" "48508554" "del" "4.078E-6" "01534" "TREX1_000038" "g.48508554del" "" "{PMID:Ramantani 2010:20131292}" "" "" "" "Germline" "" "" "0" "" "" "g.48467155del" "" "pathogenic" "" "0000181532" "0" "95" "3" "48508922" "48508939" "del" "0" "01534" "TREX1_000043" "g.48508922_48508939del" "" "{PMID:Ramantani 2010:20131292}" "" "859_876del18" "" "Germline" "" "" "0" "" "" "g.48467523_48467540del" "" "pathogenic" "" "0000181534" "0" "95" "3" "48508961" "48508964" "dup" "0" "01534" "TREX1_000045" "g.48508961_48508964dup" "" "{PMID:Gruver 2011:21131853}" "" "907_910dupGTCA" "" "Germline" "" "" "0" "" "" "g.48467562_48467565dup" "" "pathogenic" "" "0000181537" "0" "75" "3" "48508149" "48508149" "subst" "4.06283E-6" "01536" "TREX1_000049" "g.48508149C>G" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "95C>G" "" "Germline" "" "" "0" "" "" "g.48466750C>G" "" "likely pathogenic" "" "0000181538" "0" "75" "3" "48508713" "48508713" "subst" "0" "01536" "TREX1_000051" "g.48508713A>G" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48467314A>G" "" "likely pathogenic" "" "0000181539" "2" "95" "3" "48508469" "48508470" "del" "0" "01536" "TREX1_000052" "g.48508469_48508470del" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "415_416delGC" "" "Germline" "" "" "0" "" "" "g.48467070_48467071del" "" "pathogenic" "" "0000181540" "1" "35" "3" "48508429" "48508429" "subst" "0" "01536" "TREX1_000053" "g.48508429T>C" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "Silent mutation p.(Asn124Asn)" "Germline" "" "" "0" "" "" "g.48467030T>C" "" "likely benign" "" "0000181543" "0" "55" "3" "48508793" "48508793" "subst" "0.000105617" "01534" "TREX1_000056" "g.48508793G>C" "" "{PMID:Lee-Kirsch 2007:17660818}" "" "" "" "Germline" "" "" "0" "" "" "g.48467394G>C" "" "VUS" "" "0000181544" "1" "77" "3" "48508092" "48508092" "subst" "0" "01534" "TREX1_000057" "g.48508092C>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48466693C>A" "" "likely pathogenic" "" "0000181545" "1" "77" "3" "48508912" "48508912" "del" "0" "01534" "TREX1_000058" "g.48508912del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.48467513del" "" "likely pathogenic" "" "0000246202" "0" "50" "3" "48508968" "48508968" "subst" "0.000118341" "02330" "TREX1_000012" "g.48508968A>G" "" "" "" "TREX1(NM_007248.5):c.884A>G (p.Y295C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467569A>G" "" "VUS" "" "0000254742" "0" "30" "3" "48506389" "48506389" "subst" "0.00169362" "01943" "ATRIP_000007" "g.48506389A>T" "" "" "" "ATRIP(NM_130384.3):c.2215A>T (p.M739L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464990A>T" "" "likely benign" "" "0000254955" "0" "30" "3" "48507910" "48507910" "subst" "1.64136E-5" "01943" "ATRIP_000010" "g.48507910A>G" "" "" "" "ATRIP(NM_130384.3):c.*957A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466511A>G" "" "likely benign" "" "0000255374" "0" "70" "3" "48500756" "48500756" "subst" "0" "01943" "ATRIP_000002" "g.48500756A>G" "" "" "" "ATRIP(NM_001271023.1):c.551-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48459357A>G" "" "likely pathogenic" "" "0000263416" "0" "30" "3" "48501929" "48501929" "subst" "0.00161795" "01943" "ATRIP_000003" "g.48501929C>T" "" "" "" "ATRIP(NM_130384.3):c.1476C>T (p.V492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48460530C>T" "" "likely benign" "" "0000263417" "0" "50" "3" "48502077" "48502077" "subst" "2.03036E-5" "01943" "ATRIP_000004" "g.48502077C>T" "" "" "" "ATRIP(NM_130384.3):c.1624C>T (p.L542F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48460678C>T" "" "VUS" "" "0000263418" "0" "30" "3" "48506049" "48506049" "subst" "0.000101523" "01943" "ATRIP_000005" "g.48506049G>C" "" "" "" "ATRIP(NM_130384.3):c.2043G>C (p.Q681H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464650G>C" "" "likely benign" "" "0000312039" "0" "10" "3" "48508252" "48508252" "subst" "0.00120378" "02325" "ATRIP_000014" "g.48508252G>A" "" "" "" "TREX1(NM_007248.4):c.168G>A (p.K56=), TREX1(NM_007248.5):c.168G>A (p.K56=), TREX1(NM_033629.6):c.198G>A (p.K66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466853G>A" "" "benign" "" "0000312040" "0" "30" "3" "48508366" "48508366" "subst" "0.000102051" "02325" "ATRIP_000017" "g.48508366G>C" "" "" "" "TREX1(NM_033629.6):c.312G>C (p.L104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466967G>C" "" "likely benign" "" "0000312041" "0" "10" "3" "48508516" "48508516" "subst" "0.00151962" "02325" "ATRIP_000018" "g.48508516T>C" "" "" "" "TREX1(NM_007248.4):c.432T>C (p.D144=), TREX1(NM_007248.5):c.432T>C (p.D144=), TREX1(NM_033629.6):c.462T>C (p.D154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467117T>C" "" "benign" "" "0000312042" "0" "10" "3" "48508585" "48508585" "subst" "0.367297" "02325" "ATRIP_000021" "g.48508585C>T" "" "" "" "TREX1(NM_007248.4):c.501C>T (p.Y167=), TREX1(NM_007248.5):c.501C>T (p.Y167=), TREX1(NM_033629.6):c.531C>T (p.Y177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467186C>T" "" "benign" "" "0000314819" "0" "30" "3" "48508774" "48508774" "subst" "2.03141E-5" "02326" "ATRIP_000023" "g.48508774G>A" "" "" "" "TREX1(NM_007248.4):c.690G>A (p.R230=), TREX1(NM_007248.5):c.690G>A (p.R230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467375G>A" "" "likely benign" "" "0000317028" "0" "10" "3" "48507872" "48507872" "subst" "2.05312E-5" "01943" "ATRIP_000008" "g.48507872C>T" "" "" "" "ATRIP(NM_130384.3):c.*919C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466473C>T" "" "benign" "" "0000317029" "0" "10" "3" "48508966" "48508966" "subst" "0.00924361" "01943" "ATRIP_000025" "g.48508966G>A" "" "" "" "TREX1(NM_007248.2):c.882G>A (p.(Leu294=)), TREX1(NM_007248.4):c.882G>A (p.L294=), TREX1(NM_007248.5):c.882G>A (p.L294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467567G>A" "" "benign" "" "0000317030" "0" "50" "3" "48508086" "48508086" "subst" "8.12526E-6" "01943" "ATRIP_000012" "g.48508086T>C" "" "" "" "TREX1(NM_007248.2):c.2T>C (p.(Met1?)), TREX1(NM_007248.4):c.2T>C (p.M1?), TREX1(NM_033629.6):c.32T>C (p.M11T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466687T>C" "" "VUS" "" "0000317032" "0" "50" "3" "48508266" "48508266" "subst" "1.22129E-5" "01943" "ATRIP_000015" "g.48508266T>C" "" "" "" "TREX1(NM_007248.4):c.182T>C (p.V61A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466867T>C" "" "VUS" "" "0000317033" "0" "90" "3" "48508348" "48508348" "dup" "0" "01943" "ATRIP_000016" "g.48508348dup" "" "" "" "TREX1(NM_007248.4):c.264dupA (p.C89Mfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466949dup" "" "pathogenic" "" "0000317034" "0" "50" "3" "48507894" "48507894" "subst" "0.00012315" "01943" "ATRIP_000009" "g.48507894G>A" "" "" "" "ATRIP(NM_130384.3):c.*941G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466495G>A" "" "VUS" "" "0000317035" "0" "30" "3" "48508540" "48508540" "subst" "0.000126418" "01943" "ATRIP_000019" "g.48508540G>A" "" "" "" "TREX1(NM_007248.4):c.456G>A (p.L152=), TREX1(NM_007248.5):c.456G>A (p.L152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467141G>A" "" "likely benign" "" "0000317036" "0" "30" "3" "48508555" "48508555" "subst" "1.22353E-5" "01943" "ATRIP_000020" "g.48508555C>T" "" "" "" "TREX1(NM_007248.4):c.471C>T (p.S157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467156C>T" "" "likely benign" "" "0000317037" "0" "10" "3" "48508585" "48508585" "subst" "0.367297" "01943" "ATRIP_000021" "g.48508585C>T" "" "" "" "TREX1(NM_007248.4):c.501C>T (p.Y167=), TREX1(NM_007248.5):c.501C>T (p.Y167=), TREX1(NM_033629.6):c.531C>T (p.Y177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467186C>T" "" "benign" "" "0000317038" "0" "50" "3" "48508721" "48508721" "subst" "1.62649E-5" "01943" "ATRIP_000022" "g.48508721G>A" "" "" "" "TREX1(NM_007248.4):c.637G>A (p.A213T), TREX1(NM_033629.6):c.667G>A (p.A223T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467322G>A" "" "VUS" "" "0000317039" "0" "50" "3" "48508793" "48508793" "subst" "0.000105617" "01943" "TREX1_000056" "g.48508793G>C" "" "" "" "TREX1(NM_007248.4):c.709G>C (p.A237P), TREX1(NM_007248.5):c.709G>C (p.A237P), TREX1(NM_033629.6):c.739G>C (p.(Ala247Pro), p.A247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467394G>C" "" "VUS" "" "0000317040" "0" "70" "3" "48508836" "48508836" "del" "0" "01943" "ATRIP_000024" "g.48508836del" "" "" "" "TREX1(NM_007248.4):c.752delG (p.S251Ifs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467437del" "" "likely pathogenic" "" "0000329382" "0" "50" "3" "48491477" "48491477" "subst" "0" "01804" "ATRIP_000001" "g.48491477G>A" "" "" "" "ATRIP(NM_032166.3):c.282G>A (p.(Met94Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48450071G>A" "" "VUS" "" "0000329383" "0" "50" "3" "48506237" "48506237" "subst" "0" "01804" "ATRIP_000006" "g.48506237G>A" "" "" "" "ATRIP(NM_001271022.1):c.1682G>A (p.(Arg561Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464838G>A" "" "VUS" "" "0000329386" "0" "50" "3" "48510551" "48510553" "del" "0" "01804" "SHISA5_000001" "g.48510551_48510553del" "" "" "" "SHISA5(NM_001272065.1):c.658_660del (p.(Pro220del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48469152_48469154del" "" "VUS" "" "0000341038" "0" "10" "3" "48508585" "48508585" "subst" "0.367297" "02327" "ATRIP_000021" "g.48508585C>T" "" "" "" "TREX1(NM_007248.4):c.501C>T (p.Y167=), TREX1(NM_007248.5):c.501C>T (p.Y167=), TREX1(NM_033629.6):c.531C>T (p.Y177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48467186C>T" "" "benign" "" "0000342056" "0" "70" "3" "48508395" "48508395" "subst" "0.000192484" "02327" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48466996G>A" "" "likely pathogenic" "" "0000520067" "0" "30" "3" "48506279" "48506279" "subst" "0.00620495" "01804" "ATRIP_000028" "g.48506279G>A" "" "" "" "ATRIP(NM_001271022.1):c.1724G>A (p.(Arg575Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48464880G>A" "" "likely benign" "" "0000520068" "0" "10" "3" "48507667" "48507667" "subst" "0" "02330" "ATRIP_000029" "g.48507667T>C" "" "" "" "ATRIP-TREX1(NR_153405.1):n.3242T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466268T>C" "" "benign" "" "0000520069" "0" "30" "3" "48507934" "48507934" "subst" "0.000443186" "01943" "ATRIP_000030" "g.48507934G>T" "" "" "" "ATRIP(NM_130384.3):c.*981G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466535G>T" "" "likely benign" "" "0000520070" "0" "50" "3" "48507959" "48507959" "subst" "0.000151814" "01943" "ATRIP_000031" "g.48507959C>G" "" "" "" "ATRIP(NM_130384.3):c.*1006C>G, TREX1(NM_016381.4):c.70C>G (p.(Pro24Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466560C>G" "" "VUS" "" "0000520071" "0" "50" "3" "48507959" "48507959" "subst" "0.000151814" "01804" "ATRIP_000031" "g.48507959C>G" "" "" "" "ATRIP(NM_130384.3):c.*1006C>G, TREX1(NM_016381.4):c.70C>G (p.(Pro24Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466560C>G" "" "VUS" "" "0000520072" "0" "30" "3" "48507964" "48507964" "subst" "0" "01943" "ATRIP_000032" "g.48507964C>A" "" "" "" "ATRIP(NM_130384.3):c.*1011C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466565C>A" "" "likely benign" "" "0000520073" "0" "50" "3" "48508028" "48508028" "subst" "7.74271E-5" "01943" "TREX1_000061" "g.48508028G>A" "" "" "" "ATRIP(NM_130384.3):c.*1075G>A, TREX1(NM_033629.6):c.-26-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466629G>A" "" "VUS" "" "0000520074" "0" "30" "3" "48508053" "48508053" "subst" "0" "01943" "ATRIP_000033" "g.48508053C>T" "" "" "" "ATRIP-TREX1(NR_153405.1):n.3308C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466654C>T" "" "likely benign" "" "0000520075" "0" "50" "3" "48508055" "48508055" "subst" "1.62636E-5" "02325" "ATRIP_000034" "g.48508055A>G" "" "" "" "TREX1(NM_033629.6):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466656A>G" "" "VUS" "" "0000520076" "0" "30" "3" "48508196" "48508196" "subst" "2.03191E-5" "01943" "ATRIP_000035" "g.48508196C>T" "" "" "" "TREX1(NM_007248.4):c.112C>T (p.P38S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466797C>T" "" "likely benign" "" "0000520077" "0" "70" "3" "48508198" "48508198" "dup" "0" "01943" "ATRIP_000036" "g.48508198dup" "" "" "" "TREX1(NM_007248.4):c.114dupC (p.T39Hfs*53), TREX1(NM_007248.5):c.114dupC (p.T39Hfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466799dup" "" "likely pathogenic" "" "0000520078" "0" "30" "3" "48508199" "48508199" "subst" "0" "01943" "ATRIP_000037" "g.48508199A>C" "" "" "" "TREX1(NM_007248.4):c.115A>C (p.T39P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466800A>C" "" "likely benign" "" "0000520079" "0" "10" "3" "48508252" "48508252" "subst" "0.00120378" "01943" "ATRIP_000014" "g.48508252G>A" "" "" "" "TREX1(NM_007248.4):c.168G>A (p.K56=), TREX1(NM_007248.5):c.168G>A (p.K56=), TREX1(NM_033629.6):c.198G>A (p.K66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466853G>A" "" "benign" "" "0000520080" "0" "30" "3" "48508393" "48508393" "subst" "0.000211769" "01943" "ATRIP_000038" "g.48508393G>A" "" "" "" "TREX1(NM_007248.4):c.309G>A (p.R103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466994G>A" "" "likely benign" "" "0000520081" "0" "70" "3" "48508395" "48508395" "subst" "0.000192484" "02330" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466996G>A" "" "likely pathogenic" "" "0000520082" "0" "90" "3" "48508395" "48508395" "subst" "0.000192484" "01943" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466996G>A" "" "pathogenic" "" "0000520083" "0" "90" "3" "48508395" "48508395" "subst" "0.000192484" "02325" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466996G>A" "" "pathogenic" "" "0000520084" "0" "70" "3" "48508395" "48508395" "subst" "0.000192484" "02329" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48466996G>A" "" "likely pathogenic" "" "0000520085" "0" "30" "3" "48508441" "48508441" "subst" "4.47162E-5" "02330" "ATRIP_000039" "g.48508441C>T" "" "" "" "TREX1(NM_007248.4):c.357C>T (p.Y119=), TREX1(NM_007248.5):c.357C>T (p.Y119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467042C>T" "" "likely benign" "" "0000520086" "0" "30" "3" "48508441" "48508441" "subst" "4.47162E-5" "01943" "ATRIP_000039" "g.48508441C>T" "" "" "" "TREX1(NM_007248.4):c.357C>T (p.Y119=), TREX1(NM_007248.5):c.357C>T (p.Y119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467042C>T" "" "likely benign" "" "0000520087" "0" "50" "3" "48508461" "48508461" "subst" "0" "01943" "ATRIP_000040" "g.48508461C>T" "" "" "" "TREX1(NM_007248.4):c.377C>T (p.A126V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467062C>T" "" "VUS" "" "0000520088" "0" "10" "3" "48508516" "48508516" "subst" "0.00151962" "01943" "ATRIP_000018" "g.48508516T>C" "" "" "" "TREX1(NM_007248.4):c.432T>C (p.D144=), TREX1(NM_007248.5):c.432T>C (p.D144=), TREX1(NM_033629.6):c.462T>C (p.D154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467117T>C" "" "benign" "" "0000520089" "0" "70" "3" "48508544" "48508544" "subst" "0" "01804" "TREX1_000009" "g.48508544C>T" "" "" "" "TREX1(NM_016381.4):c.655C>T (p.(Arg219Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467145C>T" "" "likely pathogenic" "" "0000520090" "0" "50" "3" "48508677" "48508677" "subst" "7.72609E-5" "01943" "ATRIP_000041" "g.48508677G>C" "" "" "" "TREX1(NM_007248.2):c.593G>C (p.(Cys198Ser)), TREX1(NM_007248.4):c.593G>C (p.C198S), TREX1(NM_033629.6):c.623G>C (p.C208S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467278G>C" "" "VUS" "" "0000520091" "0" "10" "3" "48508733" "48508733" "subst" "0.000113834" "02330" "TREX1_000028" "g.48508733G>A" "" "" "" "TREX1(NM_007248.4):c.649G>A (p.G217S), TREX1(NM_007248.5):c.649G>A (p.G217S), TREX1(NM_033629.6):c.679G>A (p.(Gly227Ser), p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467334G>A" "" "benign" "" "0000520092" "0" "30" "3" "48508733" "48508733" "subst" "0.000113834" "01943" "TREX1_000028" "g.48508733G>A" "" "" "" "TREX1(NM_007248.4):c.649G>A (p.G217S), TREX1(NM_007248.5):c.649G>A (p.G217S), TREX1(NM_033629.6):c.679G>A (p.(Gly227Ser), p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467334G>A" "" "likely benign" "" "0000520093" "0" "10" "3" "48508774" "48508774" "subst" "2.03141E-5" "02330" "ATRIP_000023" "g.48508774G>A" "" "" "" "TREX1(NM_007248.4):c.690G>A (p.R230=), TREX1(NM_007248.5):c.690G>A (p.R230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467375G>A" "" "benign" "" "0000520094" "0" "30" "3" "48508774" "48508774" "subst" "2.03141E-5" "01943" "ATRIP_000023" "g.48508774G>A" "" "" "" "TREX1(NM_007248.4):c.690G>A (p.R230=), TREX1(NM_007248.5):c.690G>A (p.R230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467375G>A" "" "likely benign" "" "0000520095" "0" "30" "3" "48508805" "48508805" "subst" "0" "01804" "ATRIP_000042" "g.48508805A>G" "" "" "" "TREX1(NM_033629.3):c.751A>G (p.(Thr251Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467406A>G" "" "likely benign" "" "0000520096" "0" "30" "3" "48508851" "48508851" "subst" "0.00167318" "02330" "ATRIP_000043" "g.48508851A>G" "" "" "" "ATRIP(NM_001271023.2):c.*1898A>G, TREX1(NM_007248.2):c.767A>G (p.(Glu256Gly)), TREX1(NM_007248.4):c.767A>G (p.E256G), TREX1(NM_007248.5):c.767A>G ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467452A>G" "" "likely benign" "" "0000520097" "0" "50" "3" "48508851" "48508851" "subst" "0.00167318" "01943" "ATRIP_000043" "g.48508851A>G" "" "" "" "ATRIP(NM_001271023.2):c.*1898A>G, TREX1(NM_007248.2):c.767A>G (p.(Glu256Gly)), TREX1(NM_007248.4):c.767A>G (p.E256G), TREX1(NM_007248.5):c.767A>G ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467452A>G" "" "VUS" "" "0000520098" "0" "30" "3" "48508851" "48508851" "subst" "0.00167318" "01804" "ATRIP_000043" "g.48508851A>G" "" "" "" "ATRIP(NM_001271023.2):c.*1898A>G, TREX1(NM_007248.2):c.767A>G (p.(Glu256Gly)), TREX1(NM_007248.4):c.767A>G (p.E256G), TREX1(NM_007248.5):c.767A>G ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467452A>G" "" "likely benign" "" "0000520099" "0" "10" "3" "48508851" "48508851" "subst" "0.00167318" "02326" "ATRIP_000043" "g.48508851A>G" "" "" "" "ATRIP(NM_001271023.2):c.*1898A>G, TREX1(NM_007248.2):c.767A>G (p.(Glu256Gly)), TREX1(NM_007248.4):c.767A>G (p.E256G), TREX1(NM_007248.5):c.767A>G ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467452A>G" "" "benign" "" "0000520100" "0" "90" "3" "48508922" "48508939" "del" "0" "02326" "TREX1_000023" "g.48508922_48508939del" "" "" "" "TREX1(NM_007248.5):c.838_855delCCACTGGGTCTGCTGGCC (p.P280_A285del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467523_48467540del" "" "pathogenic" "" "0000578144" "0" "50" "3" "48498814" "48498815" "del" "0" "01474" "ATRIP_000026" "g.48498814_48498815del" "" "{PMID:Lhota 2016:26822949}" "" "827_828delAG" "" "Germline" "" "" "0" "" "" "g.48457414_48457415del" "" "VUS" "" "0000608759" "0" "50" "3" "48508970" "48508970" "subst" "0" "01943" "ATRIP_000044" "g.48508970G>A" "" "" "" "TREX1(NM_033629.6):c.916G>A (p.G306R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467571G>A" "" "VUS" "" "0000654978" "0" "50" "3" "48488452" "48488452" "subst" "9.35435E-5" "01943" "ATRIP_000045" "g.48488452C>T" "" "" "" "ATRIP(NM_130384.3):c.203C>T (p.S68L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48447048C>T" "" "VUS" "" "0000654979" "0" "50" "3" "48508910" "48508910" "subst" "0" "01943" "ATRIP_000046" "g.48508910G>A" "" "" "" "TREX1(NM_007248.4):c.826G>A (p.G276R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467511G>A" "" "VUS" "" "0000654980" "0" "50" "3" "48508989" "48508989" "subst" "4.10904E-6" "02325" "ATRIP_000047" "g.48508989C>G" "" "" "" "TREX1(NM_033629.6):c.935C>G (p.P312R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48467590C>G" "" "VUS" "" "0000677020" "0" "30" "3" "48505204" "48505204" "subst" "2.84259E-5" "01943" "ATRIP_000048" "g.48505204C>T" "" "" "" "ATRIP(NM_130384.3):c.1806C>T (p.S602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677021" "0" "50" "3" "48508097" "48508099" "dup" "0" "01943" "ATRIP_000049" "g.48508097_48508099dup" "" "" "" "TREX1(NM_007248.4):c.13_15dupATC (p.I5dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677022" "0" "50" "3" "48508442" "48508442" "subst" "0" "01943" "ATRIP_000050" "g.48508442G>A" "" "" "" "TREX1(NM_007248.4):c.358G>A (p.D120N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689100" "0" "90" "3" "48508198" "48508198" "del" "0" "01943" "ATRIP_000051" "g.48508198del" "" "" "" "TREX1(NM_007248.4):c.114delC (p.T39Pfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689101" "0" "30" "3" "48508471" "48508471" "subst" "3.25428E-5" "01943" "ATRIP_000052" "g.48508471T>C" "" "" "" "TREX1(NM_007248.4):c.387T>C (p.A129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689102" "0" "30" "3" "48508540" "48508540" "subst" "0.000126418" "02326" "ATRIP_000019" "g.48508540G>A" "" "" "" "TREX1(NM_007248.4):c.456G>A (p.L152=), TREX1(NM_007248.5):c.456G>A (p.L152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719474" "0" "50" "3" "48508977" "48508977" "subst" "4.09242E-5" "01943" "ATRIP_000053" "g.48508977C>G" "" "" "" "TREX1(NM_007248.4):c.893C>G (p.S298C), TREX1(NM_033629.6):c.923C>G (p.(Ser308Cys), p.S308C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801264" "0" "50" "3" "48506317" "48506317" "subst" "2.03661E-5" "01943" "ATRIP_000054" "g.48506317C>T" "" "" "" "ATRIP(NM_130384.3):c.2143C>T (p.R715W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801265" "0" "30" "3" "48506471" "48506471" "subst" "0.000271771" "01943" "ATRIP_000055" "g.48506471C>T" "" "" "" "ATRIP(NM_130384.3):c.2297C>T (p.T766M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801266" "0" "30" "3" "48507980" "48507980" "subst" "8.19961E-6" "02330" "ATRIP_000056" "g.48507980C>T" "" "" "" "TREX1(NM_007248.5):c.-18-87C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801267" "0" "30" "3" "48508081" "48508081" "subst" "0" "01943" "ATRIP_000057" "g.48508081G>A" "" "" "" "TREX1(NM_033629.6):c.27G>A (p.G9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801268" "0" "50" "3" "48508517" "48508517" "subst" "8.1487E-6" "02325" "ATRIP_000058" "g.48508517A>G" "" "" "" "TREX1(NM_033629.6):c.463A>G (p.S155G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801269" "0" "50" "3" "48508677" "48508677" "subst" "7.72609E-5" "02325" "ATRIP_000041" "g.48508677G>C" "" "" "" "TREX1(NM_007248.2):c.593G>C (p.(Cys198Ser)), TREX1(NM_007248.4):c.593G>C (p.C198S), TREX1(NM_033629.6):c.623G>C (p.C208S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821018" "0" "70" "3" "48508428" "48508428" "subst" "0" "00000" "ATRIP_000059" "g.48508428A>G" "1/64" "{PMID:Liu 2020:32562694}" "" "TREX1 c.539A>G, p.Asn180Ser" "heterozygous" "Germline/De novo (untested)" "?" "rs757863487" "0" "" "" "g.48467029A>G" "" "likely pathogenic" "" "0000825072" "11" "70" "3" "48508910" "48508919" "dup" "0" "00000" "ATRIP_000060" "g.48508910_48508919dup" "" "{PMID:Bergant 2021:33807868}" "" "LRG_282t1(TREX1):c.1019_1020insGGGGCTGCTG (het)" "c.1019_1020insGGGGCTGCTG automapped to NM_016381.4:c.1021_1030dupGGGCTGCTGG, heterozygous" "Germline" "?" "" "0" "" "" "g.48467511_48467520dup" "" "likely pathogenic" "" "0000850355" "0" "30" "3" "48508237" "48508237" "subst" "0.000601665" "01943" "ATRIP_000063" "g.48508237G>A" "" "" "" "TREX1(NM_007248.4):c.153G>A (p.P51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850356" "0" "30" "3" "48508402" "48508402" "subst" "0" "01943" "ATRIP_000065" "g.48508402A>G" "" "" "" "TREX1(NM_007248.4):c.318A>G (p.P106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850357" "0" "50" "3" "48508793" "48508793" "subst" "0.000105617" "02329" "TREX1_000056" "g.48508793G>C" "" "" "" "TREX1(NM_007248.4):c.709G>C (p.A237P), TREX1(NM_007248.5):c.709G>C (p.A237P), TREX1(NM_033629.6):c.739G>C (p.(Ala247Pro), p.A247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859052" "0" "30" "3" "48506307" "48506307" "subst" "5.29329E-5" "01943" "ATRIP_000061" "g.48506307C>G" "" "" "" "ATRIP(NM_130384.3):c.2133C>G (p.D711E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859053" "0" "30" "3" "48507961" "48507961" "subst" "0" "01804" "ATRIP_000062" "g.48507961T>A" "" "" "" "TREX1(NM_007248.2):c.-18-106T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859054" "0" "10" "3" "48508252" "48508252" "subst" "0.00120378" "02330" "ATRIP_000014" "g.48508252G>A" "" "" "" "TREX1(NM_007248.4):c.168G>A (p.K56=), TREX1(NM_007248.5):c.168G>A (p.K56=), TREX1(NM_033629.6):c.198G>A (p.K66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859055" "0" "30" "3" "48508335" "48508335" "subst" "2.45863E-5" "01943" "ATRIP_000064" "g.48508335C>T" "" "" "" "TREX1(NM_007248.4):c.251C>T (p.A84V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859056" "0" "70" "3" "48508344" "48508344" "subst" "6.54922E-5" "02325" "TREX1_000064" "g.48508344G>A" "" "" "" "TREX1(NM_007248.2):c.260G>A (p.(Arg87His)), TREX1(NM_033629.6):c.290G>A (p.R97H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859057" "0" "30" "3" "48508516" "48508516" "subst" "0.00151962" "02330" "ATRIP_000018" "g.48508516T>C" "" "" "" "TREX1(NM_007248.4):c.432T>C (p.D144=), TREX1(NM_007248.5):c.432T>C (p.D144=), TREX1(NM_033629.6):c.462T>C (p.D154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859058" "0" "50" "3" "48508677" "48508677" "subst" "7.72609E-5" "01804" "ATRIP_000041" "g.48508677G>C" "" "" "" "TREX1(NM_007248.2):c.593G>C (p.(Cys198Ser)), TREX1(NM_007248.4):c.593G>C (p.C198S), TREX1(NM_033629.6):c.623G>C (p.C208S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859059" "0" "30" "3" "48508705" "48508705" "subst" "6.9136E-5" "01804" "ATRIP_000066" "g.48508705G>A" "" "" "" "TREX1(NM_007248.2):c.621G>A (p.(Arg207=)), TREX1(NM_033629.6):c.651G>A (p.R217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859060" "0" "30" "3" "48508774" "48508774" "subst" "0.000190953" "01943" "TREX1_000029" "g.48508774G>C" "" "" "" "TREX1(NM_033629.6):c.720G>C (p.R240S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859061" "0" "30" "3" "48508966" "48508966" "subst" "0.00924361" "01804" "ATRIP_000025" "g.48508966G>A" "" "" "" "TREX1(NM_007248.2):c.882G>A (p.(Leu294=)), TREX1(NM_007248.4):c.882G>A (p.L294=), TREX1(NM_007248.5):c.882G>A (p.L294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885882" "0" "50" "3" "48508074" "48508074" "subst" "4.06537E-6" "02329" "ATRIP_000067" "g.48508074C>G" "" "" "" "TREX1(NM_033629.3):c.20C>G (p.(Pro7Arg)), TREX1(NM_033629.6):c.20C>G (p.P7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885883" "0" "50" "3" "48508128" "48508128" "subst" "8.12414E-6" "02325" "ATRIP_000068" "g.48508128C>T" "" "" "" "TREX1(NM_033629.6):c.74C>T (p.P25L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885884" "0" "30" "3" "48508198" "48508198" "subst" "8.1279E-6" "01804" "ATRIP_000069" "g.48508198C>G" "" "" "" "TREX1(NM_007248.2):c.114C>G (p.(Pro38=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885885" "0" "30" "3" "48508483" "48508483" "subst" "4.06961E-6" "02326" "ATRIP_000070" "g.48508483C>T" "" "" "" "TREX1(NM_033629.6):c.429C>T (p.L143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885886" "0" "30" "3" "48508733" "48508733" "subst" "0.000113834" "02326" "TREX1_000028" "g.48508733G>A" "" "" "" "TREX1(NM_007248.4):c.649G>A (p.G217S), TREX1(NM_007248.5):c.649G>A (p.G217S), TREX1(NM_033629.6):c.679G>A (p.(Gly227Ser), p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885887" "0" "30" "3" "48508859" "48508859" "subst" "0" "02326" "ATRIP_000071" "g.48508859G>A" "" "" "" "TREX1(NM_033629.6):c.805G>A (p.(Gly269Ser), p.G269S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885888" "0" "50" "3" "48508977" "48508977" "subst" "4.09242E-5" "02325" "ATRIP_000053" "g.48508977C>G" "" "" "" "TREX1(NM_007248.4):c.893C>G (p.S298C), TREX1(NM_033629.6):c.923C>G (p.(Ser308Cys), p.S308C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905981" "0" "90" "3" "48508395" "48508395" "subst" "0.000192484" "00000" "TREX1_000006" "g.48508395G>A" "" "{PMID:Zhu 2022:35456422}" "" "TREX1 c.341G>A, p.(Arg114His)" "different transcript, NM_033629.6:c.341G>A is NM_016381.4(TREX1):c.506G>A, p.(Arg169His); heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.48466996G>A" "" "pathogenic" "ACMG" "0000911958" "0" "10" "3" "48508585" "48508585" "subst" "0.367297" "02329" "ATRIP_000021" "g.48508585C>T" "" "" "" "TREX1(NM_007248.4):c.501C>T (p.Y167=), TREX1(NM_007248.5):c.501C>T (p.Y167=), TREX1(NM_033629.6):c.531C>T (p.Y177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911959" "0" "30" "3" "48508705" "48508705" "subst" "6.9136E-5" "02326" "ATRIP_000066" "g.48508705G>A" "" "" "" "TREX1(NM_007248.2):c.621G>A (p.(Arg207=)), TREX1(NM_033629.6):c.651G>A (p.R217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923963" "0" "50" "3" "48508253" "48508253" "subst" "0" "02325" "ATRIP_000072" "g.48508253C>T" "" "" "" "TREX1(NM_033629.6):c.199C>T (p.L67F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923964" "0" "50" "3" "48508623" "48508623" "subst" "4.06881E-6" "02325" "ATRIP_000073" "g.48508623C>T" "" "" "" "TREX1(NM_033629.6):c.569C>T (p.S190F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923965" "0" "10" "3" "48508966" "48508966" "subst" "0.00924361" "02329" "ATRIP_000025" "g.48508966G>A" "" "" "" "TREX1(NM_007248.2):c.882G>A (p.(Leu294=)), TREX1(NM_007248.4):c.882G>A (p.L294=), TREX1(NM_007248.5):c.882G>A (p.L294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928803" "0" "50" "3" "48508115" "48508115" "subst" "0" "02326" "ATRIP_000074" "g.48508115G>A" "" "" "" "TREX1(NM_033629.6):c.61G>A (p.A21T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928804" "0" "30" "3" "48508354" "48508354" "subst" "0" "02326" "ATRIP_000075" "g.48508354T>C" "" "" "" "TREX1(NM_033629.6):c.300T>C (p.F100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948182" "0" "90" "3" "48508198" "48508198" "dup" "0" "02330" "TREX1_000054" "g.48508198dup" "" "" "" "TREX1(NM_007248.4):c.114dupC (p.T39Hfs*53), TREX1(NM_007248.5):c.114dupC (p.T39Hfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948183" "0" "50" "3" "48508376" "48508376" "subst" "0" "02325" "ATRIP_000076" "g.48508376C>T" "" "" "" "TREX1(NM_033629.6):c.322C>T (p.L108F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000959751" "3" "90" "3" "48498821" "48498821" "subst" "0" "03736" "ATRIP_000077" "g.48498821G>T" "" "{DOI:Duthoo 2025:10.1101/2024.07.22.24310550}" "" "" "" "Germline" "" "" "0" "" "" "g.48457421G>T" "" "pathogenic (recessive)" "" "0000962811" "0" "50" "3" "48508086" "48508086" "subst" "8.12526E-6" "02325" "ATRIP_000012" "g.48508086T>C" "" "" "" "TREX1(NM_007248.2):c.2T>C (p.(Met1?)), TREX1(NM_007248.4):c.2T>C (p.M1?), TREX1(NM_033629.6):c.32T>C (p.M11T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975871" "0" "50" "3" "48508145" "48508145" "subst" "4.0626E-6" "01804" "ATRIP_000078" "g.48508145G>A" "" "" "" "TREX1(NM_033629.6):c.91G>A (p.(Val31Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975872" "0" "30" "3" "48508336" "48508336" "subst" "7.78421E-5" "01804" "ATRIP_000079" "g.48508336G>A" "" "" "" "TREX1(NM_007248.2):c.252G>A (p.(Ala84=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975873" "0" "70" "3" "48508395" "48508395" "subst" "0.000192484" "01804" "TREX1_000006" "g.48508395G>A" "" "" "" "TREX1(NM_007248.2):c.311G>A (p.(Arg104His)), TREX1(NM_007248.4):c.311G>A (p.R104H), TREX1(NM_007248.5):c.311G>A (p.R104H), TREX1(NM_033629.6):c.341..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975874" "0" "50" "3" "48508721" "48508721" "subst" "1.62649E-5" "02325" "ATRIP_000022" "g.48508721G>A" "" "" "" "TREX1(NM_007248.4):c.637G>A (p.A213T), TREX1(NM_033629.6):c.667G>A (p.A223T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975875" "0" "50" "3" "48508977" "48508977" "subst" "4.09242E-5" "01804" "ATRIP_000053" "g.48508977C>G" "" "" "" "TREX1(NM_007248.4):c.893C>G (p.S298C), TREX1(NM_033629.6):c.923C>G (p.(Ser308Cys), p.S308C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993751" "0" "30" "3" "48508074" "48508074" "subst" "4.06537E-6" "01804" "ATRIP_000067" "g.48508074C>G" "" "" "" "TREX1(NM_033629.3):c.20C>G (p.(Pro7Arg)), TREX1(NM_033629.6):c.20C>G (p.P7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993752" "0" "50" "3" "48508607" "48508607" "subst" "1.2213E-5" "02325" "TREX1_000055" "g.48508607C>T" "" "" "" "TREX1(NM_033629.6):c.553C>T (p.(Arg185Cys), p.R185C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993753" "0" "50" "3" "48508689" "48508689" "subst" "0" "01804" "ATRIP_000080" "g.48508689C>A" "" "" "" "TREX1(NM_033629.3):c.635C>A (p.(Pro212Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993754" "0" "30" "3" "48508996" "48508996" "subst" "0" "01804" "ATRIP_000081" "g.48508996G>T" "" "" "" "TREX1(NM_016381.4):c.1107G>T (p.(Glu369Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013899" "0" "50" "3" "48508086" "48508086" "subst" "8.12526E-6" "01804" "ATRIP_000012" "g.48508086T>C" "" "" "" "TREX1(NM_007248.2):c.2T>C (p.(Met1?)), TREX1(NM_007248.4):c.2T>C (p.M1?), TREX1(NM_033629.6):c.32T>C (p.M11T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013900" "0" "50" "3" "48508607" "48508607" "subst" "1.2213E-5" "02327" "TREX1_000055" "g.48508607C>T" "" "" "" "TREX1(NM_033629.6):c.553C>T (p.(Arg185Cys), p.R185C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013901" "0" "30" "3" "48508733" "48508733" "subst" "0.000113834" "02327" "TREX1_000028" "g.48508733G>A" "" "" "" "TREX1(NM_007248.4):c.649G>A (p.G217S), TREX1(NM_007248.5):c.649G>A (p.G217S), TREX1(NM_033629.6):c.679G>A (p.(Gly227Ser), p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013902" "0" "50" "3" "48508793" "48508793" "subst" "0.000105617" "02327" "TREX1_000056" "g.48508793G>C" "" "" "" "TREX1(NM_007248.4):c.709G>C (p.A237P), TREX1(NM_007248.5):c.709G>C (p.A237P), TREX1(NM_033629.6):c.739G>C (p.(Ala247Pro), p.A247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013903" "0" "30" "3" "48508800" "48508800" "subst" "0" "01804" "ATRIP_000082" "g.48508800C>A" "" "" "" "TREX1(NM_007248.2):c.716C>A (p.(Thr239Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027788" "3" "90" "3" "48498818" "48498818" "subst" "0" "04802" "ATRIP_000083" "g.48498818T>G" "" "{DOI:Duthoo 2025:10.1101/2024.07.22.24310550}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48457418T>G" "982310" "likely pathogenic (recessive)" "ACMG" "0001027876" "21" "90" "3" "48506452" "48506452" "subst" "4.16153E-6" "00006" "ATRIP_000084" "g.48506452C>T" "" "{DOI:Ogi 2012:23144622}" "" "" "" "Germline" "" "" "0" "" "" "g.48465053C>T" "" "pathogenic (recessive)" "" "0001027877" "21" "30" "3" "48488192" "48488192" "subst" "0" "00006" "ATRIP_000085" "g.48488192G>C" "" "{DOI:Ogi 2012:23144622}" "" "" "" "Germline" "" "rs72622933" "0" "" "" "g.48446788G>C" "" "likely benign" "" "0001027878" "21" "30" "3" "48489398" "48489398" "subst" "0" "00006" "ATRIP_000086" "g.48489398A>G" "" "{DOI:Ogi 2012:23144622}" "" "" "" "Germline" "" "rs922075" "0" "" "" "g.48447994A>G" "" "likely benign" "" "0001027879" "21" "30" "3" "48490609" "48490609" "subst" "0" "00006" "ATRIP_000087" "g.48490609G>C" "" "{DOI:Ogi 2012:23144622}" "" "" "" "Germline" "" "rs1824363" "0" "" "" "g.48449203G>C" "" "likely benign" "" "0001027880" "11" "70" "3" "48491429" "48491429" "subst" "0" "00006" "ATRIP_000088" "g.48491429A>G" "" "{DOI:Ogi 2012:23144622}" "" "IVS1-13A>G" "effect of variant on splicing defect detected not proven" "Germline" "" "" "0" "" "" "g.48450023A>G" "" "likely pathogenic (recessive)" "" "0001034005" "0" "50" "3" "48508028" "48508028" "subst" "7.74271E-5" "01804" "TREX1_000061" "g.48508028G>A" "" "" "" "ATRIP(NM_130384.3):c.*1075G>A, TREX1(NM_033629.6):c.-26-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034006" "0" "70" "3" "48508290" "48508297" "dup" "0" "01804" "TREX1_000032" "g.48508290_48508297dup" "" "" "" "TREX1(NM_033629.6):c.236_243dup (p.(Ser82LeufsTer9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034007" "0" "50" "3" "48508343" "48508343" "subst" "0" "01804" "ATRIP_000089" "g.48508343C>A" "" "" "" "TREX1(NM_033629.6):c.289C>A (p.(Arg97Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034008" "0" "50" "3" "48508923" "48508923" "subst" "5.69471E-5" "01804" "TREX1_000031" "g.48508923C>T" "" "" "" "TREX1(NM_007248.2):c.839C>T (p.(Pro280Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045927" "0" "50" "3" "48508793" "48508793" "subst" "0.000105617" "02325" "TREX1_000056" "g.48508793G>C" "" "" "" "TREX1(NM_007248.4):c.709G>C (p.A237P), TREX1(NM_007248.5):c.709G>C (p.A237P), TREX1(NM_033629.6):c.739G>C (p.(Ala247Pro), p.A247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051309" "0" "90" "3" "48508344" "48508344" "subst" "6.54922E-5" "01804" "TREX1_000064" "g.48508344G>A" "" "" "" "TREX1(NM_007248.2):c.260G>A (p.(Arg87His)), TREX1(NM_033629.6):c.290G>A (p.R97H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051310" "0" "50" "3" "48508607" "48508607" "subst" "1.2213E-5" "01804" "TREX1_000055" "g.48508607C>T" "" "" "" "TREX1(NM_033629.6):c.553C>T (p.(Arg185Cys), p.R185C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051311" "0" "50" "3" "48508733" "48508733" "subst" "0.000113834" "01804" "TREX1_000028" "g.48508733G>A" "" "" "" "TREX1(NM_007248.4):c.649G>A (p.G217S), TREX1(NM_007248.5):c.649G>A (p.G217S), TREX1(NM_033629.6):c.679G>A (p.(Gly227Ser), p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051312" "0" "50" "3" "48508793" "48508793" "subst" "0.000105617" "01804" "TREX1_000056" "g.48508793G>C" "" "" "" "TREX1(NM_007248.4):c.709G>C (p.A237P), TREX1(NM_007248.5):c.709G>C (p.A237P), TREX1(NM_033629.6):c.739G>C (p.(Ala247Pro), p.A247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051313" "0" "50" "3" "48508859" "48508859" "subst" "0" "01804" "ATRIP_000071" "g.48508859G>A" "" "" "" "TREX1(NM_033629.6):c.805G>A (p.(Gly269Ser), p.G269S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051314" "0" "50" "3" "48508961" "48508961" "subst" "1.63043E-5" "01804" "TREX1_000017" "g.48508961A>C" "" "" "" "TREX1(NM_033629.6):c.907A>C (p.(Thr303Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ATRIP ## Count = 187 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000181475" "00003155" "99" "2477" "1706" "2477" "1706" "c.*1807dup" "r.(=)" "p.(=)" "" "0000181476" "00003155" "99" "2477" "1850" "2477" "1850" "c.*1951dup" "r.(=)" "p.(=)" "" "0000181478" "00003155" "00" "3818" "0" "3818" "0" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000181479" "00003155" "00" "3818" "0" "3818" "0" "c.*1442G>A" "" "" "" "0000181480" "00003155" "95" "3818" "0" "3818" "0" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000181481" "00003155" "95" "3818" "0" "3818" "0" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000181483" "00003155" "00" "3818" "0" "3818" "0" "c.*1442G>A" "" "" "" "0000181486" "00003155" "00" "3818" "0" "3818" "0" "c.*1442G>A" "" "" "" "0000181487" "00003155" "99" "2477" "1341" "2477" "1341" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000181488" "00003155" "77" "2477" "1599" "2477" "1601" "c.*1700_*1702dup" "r.(=)" "p.(=)" "" "0000181490" "00003155" "31" "2477" "1375" "2477" "1375" "c.*1476dup" "r.(=)" "p.(=)" "" "0000181493" "00003155" "55" "2477" "1914" "2477" "1914" "c.*2015A>G" "r.(=)" "p.(=)" "" "0000181494" "00003155" "55" "2477" "1914" "2477" "1914" "c.*2015A>G" "r.(=)" "p.(=)" "" "0000181497" "00003155" "95" "3529" "0" "3529" "0" "c.*1153G>A" "r.(=)" "p.(=)" "" "0000181499" "00003155" "57" "3535" "0" "3535" "0" "c.*1159dup" "r.(=)" "p.(=)" "" "0000181508" "00003155" "95" "3689" "0" "3690" "0" "c.*1313_*1314dup" "r.(=)" "p.(=)" "" "0000181509" "00003155" "95" "2477" "1236" "2477" "1243" "c.*1337_*1344dup" "r.(=)" "p.(=)" "" "0000181510" "00003155" "57" "3843" "0" "3845" "0" "c.*1467_*1469dup" "r.(=)" "p.(=)" "" "0000181512" "00003155" "57" "2477" "1609" "2477" "1662" "c.*1710_*1763dup" "r.(=)" "p.(=)" "" "0000181513" "00003155" "95" "2477" "1609" "2477" "1662" "c.*1710_*1763dup" "r.(=)" "p.(=)" "" "0000181514" "00003155" "55" "2477" "1625" "2477" "1628" "c.*1726_*1729dup" "r.(=)" "p.(=)" "" "0000181515" "00003155" "57" "2477" "1868" "2477" "1885" "c.*1969_*1986del" "r.(=)" "p.(=)" "" "0000181516" "00003155" "95" "2477" "1868" "2477" "1885" "c.*1969_*1986del" "r.(=)" "p.(=)" "" "0000181518" "00003155" "55" "2477" "1500" "2477" "1500" "c.*1601del" "r.(=)" "p.(=)" "" "0000181519" "00003155" "55" "2477" "1473" "2477" "1473" "c.*1574C>T" "r.(=)" "p.(=)" "" "0000181520" "00003155" "99" "2477" "1635" "2477" "1635" "c.*1736del" "r.(=)" "p.(=)" "" "0000181521" "00003155" "95" "2477" "1635" "2477" "1635" "c.*1736del" "r.(=)" "p.(=)" "" "0000181522" "00003155" "55" "2477" "1679" "2477" "1679" "c.*1780G>A" "r.(=)" "p.(=)" "" "0000181525" "00003155" "55" "2477" "1869" "2477" "1869" "c.*1970C>T" "r.(=)" "p.(=)" "" "0000181526" "00003155" "55" "2477" "1917" "2477" "1917" "c.*2018G>C" "r.(=)" "p.(=)" "" "0000181527" "00003155" "95" "2477" "1150" "2477" "1151" "c.*1251_*1252del" "r.(=)" "p.(=)" "" "0000181529" "00003155" "95" "2477" "1500" "2477" "1500" "c.*1601del" "r.(=)" "p.(=)" "" "0000181532" "00003155" "00" "4336" "0" "4353" "0" "c.*1960_*1977del" "r.(=)" "p.(=)" "" "0000181534" "00003155" "95" "2477" "1907" "2477" "1910" "c.*2008_*2011dup" "r.(=)" "p.(=)" "" "0000181537" "00003155" "75" "2477" "1095" "2477" "1095" "c.*1196C>G" "" "" "" "0000181538" "00003155" "75" "2477" "1659" "2477" "1659" "c.*1760A>G" "r.(=)" "p.(=)" "" "0000181539" "00003155" "95" "2477" "1415" "2477" "1416" "c.*1516_*1517del" "r.(=)" "p.(=)" "" "0000181540" "00003155" "35" "2477" "1375" "2477" "1375" "c.*1476T>C" "" "" "" "0000181543" "00003155" "55" "2477" "1739" "2477" "1739" "c.*1840G>C" "r.(=)" "p.(=)" "" "0000181544" "00003155" "00" "3515" "0" "3515" "0" "c.*1139C>A" "" "" "" "0000181545" "00003155" "77" "2477" "1858" "2477" "1858" "c.*1959del" "r.(=)" "p.(=)" "" "0000246202" "00003155" "50" "4391" "0" "4391" "0" "c.*2015A>G" "r.(=)" "p.(=)" "" "0000254742" "00003155" "30" "2215" "0" "2215" "0" "c.2215A>T" "r.(?)" "p.(Met739Leu)" "" "0000254955" "00003155" "30" "3333" "0" "3333" "0" "c.*957A>G" "r.(=)" "p.(=)" "" "0000255374" "00003155" "70" "830" "-2" "830" "-2" "c.830-2A>G" "r.spl?" "p.?" "" "0000263416" "00003155" "30" "1476" "0" "1476" "0" "c.1476C>T" "r.(?)" "p.(Val492=)" "" "0000263417" "00003155" "50" "1624" "0" "1624" "0" "c.1624C>T" "r.(?)" "p.(Leu542Phe)" "" "0000263418" "00003155" "30" "2043" "0" "2043" "0" "c.2043G>C" "r.(?)" "p.(Gln681His)" "" "0000312039" "00003155" "10" "3675" "0" "3675" "0" "c.*1299G>A" "r.(=)" "p.(=)" "" "0000312040" "00003155" "30" "3789" "0" "3789" "0" "c.*1413G>C" "r.(=)" "p.(=)" "" "0000312041" "00003155" "10" "3939" "0" "3939" "0" "c.*1563T>C" "r.(=)" "p.(=)" "" "0000312042" "00003155" "10" "4008" "0" "4008" "0" "c.*1632C>T" "r.(=)" "p.(=)" "" "0000314819" "00003155" "30" "4197" "0" "4197" "0" "c.*1821G>A" "r.(=)" "p.(=)" "" "0000317028" "00003155" "10" "3295" "0" "3295" "0" "c.*919C>T" "r.(=)" "p.(=)" "" "0000317029" "00003155" "10" "4389" "0" "4389" "0" "c.*2013G>A" "r.(=)" "p.(=)" "" "0000317030" "00003155" "50" "3509" "0" "3509" "0" "c.*1133T>C" "r.(=)" "p.(=)" "" "0000317032" "00003155" "50" "3689" "0" "3689" "0" "c.*1313T>C" "r.(=)" "p.(=)" "" "0000317033" "00003155" "90" "3771" "0" "3771" "0" "c.*1395dup" "r.(?)" "p.(=)" "" "0000317034" "00003155" "50" "3317" "0" "3317" "0" "c.*941G>A" "r.(=)" "p.(=)" "" "0000317035" "00003155" "30" "3963" "0" "3963" "0" "c.*1587G>A" "r.(=)" "p.(=)" "" "0000317036" "00003155" "30" "3978" "0" "3978" "0" "c.*1602C>T" "r.(=)" "p.(=)" "" "0000317037" "00003155" "10" "4008" "0" "4008" "0" "c.*1632C>T" "r.(=)" "p.(=)" "" "0000317038" "00003155" "50" "4144" "0" "4144" "0" "c.*1768G>A" "r.(=)" "p.(=)" "" "0000317039" "00003155" "50" "4216" "0" "4216" "0" "c.*1840G>C" "r.(=)" "p.(=)" "" "0000317040" "00003155" "70" "4259" "0" "4259" "0" "c.*1883del" "r.(?)" "p.(=)" "" "0000329382" "00003155" "50" "282" "0" "282" "0" "c.282G>A" "r.(?)" "p.(Met94Ile)" "" "0000329383" "00003155" "50" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Arg688Lys)" "" "0000329386" "00003155" "50" "5974" "0" "5976" "0" "c.*3598_*3600del" "r.(=)" "p.(=)" "" "0000341038" "00003155" "10" "4008" "0" "4008" "0" "c.*1632C>T" "r.(=)" "p.(=)" "" "0000342056" "00003155" "70" "3818" "0" "3818" "0" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000520067" "00003155" "30" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Arg702Gln)" "" "0000520068" "00003155" "10" "3090" "0" "3090" "0" "c.*714T>C" "r.(=)" "p.(=)" "" "0000520069" "00003155" "30" "3357" "0" "3357" "0" "c.*981G>T" "r.(=)" "p.(=)" "" "0000520070" "00003155" "50" "3382" "0" "3382" "0" "c.*1006C>G" "r.(=)" "p.(=)" "" "0000520071" "00003155" "50" "3382" "0" "3382" "0" "c.*1006C>G" "r.(=)" "p.(=)" "" "0000520072" "00003155" "30" "3387" "0" "3387" "0" "c.*1011C>A" "r.(=)" "p.(=)" "" "0000520073" "00003155" "50" "3451" "0" "3451" "0" "c.*1075G>A" "r.(=)" "p.(=)" "" "0000520074" "00003155" "30" "3476" "0" "3476" "0" "c.*1100C>T" "r.(=)" "p.(=)" "" "0000520075" "00003155" "50" "3478" "0" "3478" "0" "c.*1102A>G" "r.(=)" "p.(=)" "" "0000520076" "00003155" "30" "3619" "0" "3619" "0" "c.*1243C>T" "r.(=)" "p.(=)" "" "0000520077" "00003155" "70" "3621" "0" "3621" "0" "c.*1245dup" "r.(?)" "p.(=)" "" "0000520078" "00003155" "30" "3622" "0" "3622" "0" "c.*1246A>C" "r.(=)" "p.(=)" "" "0000520079" "00003155" "10" "3675" "0" "3675" "0" "c.*1299G>A" "r.(=)" "p.(=)" "" "0000520080" "00003155" "30" "3816" "0" "3816" "0" "c.*1440G>A" "r.(=)" "p.(=)" "" "0000520081" "00003155" "70" "3818" "0" "3818" "0" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000520082" "00003155" "90" "3818" "0" "3818" "0" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000520083" "00003155" "90" "3818" "0" "3818" "0" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000520084" "00003155" "70" "3818" "0" "3818" "0" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000520085" "00003155" "30" "3864" "0" "3864" "0" "c.*1488C>T" "r.(=)" "p.(=)" "" "0000520086" "00003155" "30" "3864" "0" "3864" "0" "c.*1488C>T" "r.(=)" "p.(=)" "" "0000520087" "00003155" "50" "3884" "0" "3884" "0" "c.*1508C>T" "r.(=)" "p.(=)" "" "0000520088" "00003155" "10" "3939" "0" "3939" "0" "c.*1563T>C" "r.(=)" "p.(=)" "" "0000520089" "00003155" "70" "3967" "0" "3967" "0" "c.*1591C>T" "r.(=)" "p.(=)" "" "0000520090" "00003155" "50" "4100" "0" "4100" "0" "c.*1724G>C" "r.(=)" "p.(=)" "" "0000520091" "00003155" "10" "4156" "0" "4156" "0" "c.*1780G>A" "r.(=)" "p.(=)" "" "0000520092" "00003155" "30" "4156" "0" "4156" "0" "c.*1780G>A" "r.(=)" "p.(=)" "" "0000520093" "00003155" "10" "4197" "0" "4197" "0" "c.*1821G>A" "r.(=)" "p.(=)" "" "0000520094" "00003155" "30" "4197" "0" "4197" "0" "c.*1821G>A" "r.(=)" "p.(=)" "" "0000520095" "00003155" "30" "4228" "0" "4228" "0" "c.*1852A>G" "r.(=)" "p.(=)" "" "0000520096" "00003155" "30" "4274" "0" "4274" "0" "c.*1898A>G" "r.(=)" "p.(=)" "" "0000520097" "00003155" "50" "4274" "0" "4274" "0" "c.*1898A>G" "r.(=)" "p.(=)" "" "0000520098" "00003155" "30" "4274" "0" "4274" "0" "c.*1898A>G" "r.(=)" "p.(=)" "" "0000520099" "00003155" "10" "4274" "0" "4274" "0" "c.*1898A>G" "r.(=)" "p.(=)" "" "0000520100" "00003155" "90" "4345" "0" "4362" "0" "c.*1969_*1986del" "r.(=)" "p.(=)" "" "0000578144" "00003155" "00" "827" "0" "828" "0" "c.827_828del" "r.(?)" "p.(Glu276Glyfs*2)" "" "0000608759" "00003155" "50" "4393" "0" "4393" "0" "c.*2017G>A" "r.(=)" "p.(=)" "" "0000654978" "00003155" "50" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Ser68Leu)" "" "0000654979" "00003155" "50" "4333" "0" "4333" "0" "c.*1957G>A" "r.(=)" "p.(=)" "" "0000654980" "00003155" "50" "4412" "0" "4412" "0" "c.*2036C>G" "r.(=)" "p.(=)" "" "0000677020" "00003155" "30" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(Ser602=)" "" "0000677021" "00003155" "50" "3520" "0" "3522" "0" "c.*1144_*1146dup" "r.(=)" "p.(=)" "" "0000677022" "00003155" "50" "3865" "0" "3865" "0" "c.*1489G>A" "r.(=)" "p.(=)" "" "0000689100" "00003155" "90" "3621" "0" "3621" "0" "c.*1245del" "r.(?)" "p.(=)" "" "0000689101" "00003155" "30" "3894" "0" "3894" "0" "c.*1518T>C" "r.(=)" "p.(=)" "" "0000689102" "00003155" "30" "3963" "0" "3963" "0" "c.*1587G>A" "r.(=)" "p.(=)" "" "0000719474" "00003155" "50" "4400" "0" "4400" "0" "c.*2024C>G" "r.(=)" "p.(=)" "" "0000801264" "00003155" "50" "2143" "0" "2143" "0" "c.2143C>T" "r.(?)" "p.(Arg715Trp)" "" "0000801265" "00003155" "30" "2297" "0" "2297" "0" "c.2297C>T" "r.(?)" "p.(Thr766Met)" "" "0000801266" "00003155" "30" "3403" "0" "3403" "0" "c.*1027C>T" "r.(=)" "p.(=)" "" "0000801267" "00003155" "30" "3504" "0" "3504" "0" "c.*1128G>A" "r.(=)" "p.(=)" "" "0000801268" "00003155" "50" "3940" "0" "3940" "0" "c.*1564A>G" "r.(=)" "p.(=)" "" "0000801269" "00003155" "50" "4100" "0" "4100" "0" "c.*1724G>C" "r.(=)" "p.(=)" "" "0000821018" "00003155" "70" "3851" "0" "3851" "0" "c.*1475A>G" "r.(=)" "p.(=)" "" "0000825072" "00003155" "70" "4333" "0" "4342" "0" "c.*1957_*1966dup" "r.(=)" "p.(=)" "" "0000850355" "00003155" "30" "3660" "0" "3660" "0" "c.*1284G>A" "r.(=)" "p.(=)" "" "0000850356" "00003155" "30" "3825" "0" "3825" "0" "c.*1449A>G" "r.(=)" "p.(=)" "" "0000850357" "00003155" "50" "4216" "0" "4216" "0" "c.*1840G>C" "r.(=)" "p.(=)" "" "0000859052" "00003155" "30" "2133" "0" "2133" "0" "c.2133C>G" "r.(?)" "p.(Asp711Glu)" "" "0000859053" "00003155" "30" "3384" "0" "3384" "0" "c.*1008T>A" "r.(=)" "p.(=)" "" "0000859054" "00003155" "10" "3675" "0" "3675" "0" "c.*1299G>A" "r.(=)" "p.(=)" "" "0000859055" "00003155" "30" "3758" "0" "3758" "0" "c.*1382C>T" "r.(=)" "p.(=)" "" "0000859056" "00003155" "70" "3767" "0" "3767" "0" "c.*1391G>A" "r.(=)" "p.(=)" "" "0000859057" "00003155" "30" "3939" "0" "3939" "0" "c.*1563T>C" "r.(=)" "p.(=)" "" "0000859058" "00003155" "50" "4100" "0" "4100" "0" "c.*1724G>C" "r.(=)" "p.(=)" "" "0000859059" "00003155" "30" "4128" "0" "4128" "0" "c.*1752G>A" "r.(=)" "p.(=)" "" "0000859060" "00003155" "30" "4197" "0" "4197" "0" "c.*1821G>C" "r.(=)" "p.(=)" "" "0000859061" "00003155" "30" "4389" "0" "4389" "0" "c.*2013G>A" "r.(=)" "p.(=)" "" "0000885882" "00003155" "50" "3497" "0" "3497" "0" "c.*1121C>G" "r.(=)" "p.(=)" "" "0000885883" "00003155" "50" "3551" "0" "3551" "0" "c.*1175C>T" "r.(=)" "p.(=)" "" "0000885884" "00003155" "30" "3621" "0" "3621" "0" "c.*1245C>G" "r.(=)" "p.(=)" "" "0000885885" "00003155" "30" "3906" "0" "3906" "0" "c.*1530C>T" "r.(=)" "p.(=)" "" "0000885886" "00003155" "30" "4156" "0" "4156" "0" "c.*1780G>A" "r.(=)" "p.(=)" "" "0000885887" "00003155" "30" "4282" "0" "4282" "0" "c.*1906G>A" "r.(=)" "p.(=)" "" "0000885888" "00003155" "50" "4400" "0" "4400" "0" "c.*2024C>G" "r.(=)" "p.(=)" "" "0000905981" "00003155" "90" "3818" "0" "3818" "0" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000911958" "00003155" "10" "4008" "0" "4008" "0" "c.*1632C>T" "r.(=)" "p.(=)" "" "0000911959" "00003155" "30" "4128" "0" "4128" "0" "c.*1752G>A" "r.(=)" "p.(=)" "" "0000923963" "00003155" "50" "3676" "0" "3676" "0" "c.*1300C>T" "r.(=)" "p.(=)" "" "0000923964" "00003155" "50" "4046" "0" "4046" "0" "c.*1670C>T" "r.(=)" "p.(=)" "" "0000923965" "00003155" "10" "4389" "0" "4389" "0" "c.*2013G>A" "r.(=)" "p.(=)" "" "0000928803" "00003155" "50" "3538" "0" "3538" "0" "c.*1162G>A" "r.(=)" "p.(=)" "" "0000928804" "00003155" "30" "3777" "0" "3777" "0" "c.*1401T>C" "r.(=)" "p.(=)" "" "0000948182" "00003155" "90" "3621" "0" "3621" "0" "c.*1245dup" "r.(?)" "p.(=)" "" "0000948183" "00003155" "50" "3799" "0" "3799" "0" "c.*1423C>T" "r.(=)" "p.(=)" "" "0000959751" "00003155" "90" "829" "5" "829" "5" "c.829+5G>T" "r.672_829del" "p.Ser224ArgfsTer2" "" "0000962811" "00003155" "50" "3509" "0" "3509" "0" "c.*1133T>C" "r.(=)" "p.(=)" "" "0000975871" "00003155" "50" "3568" "0" "3568" "0" "c.*1192G>A" "r.(=)" "p.(=)" "" "0000975872" "00003155" "30" "3759" "0" "3759" "0" "c.*1383G>A" "r.(=)" "p.(=)" "" "0000975873" "00003155" "70" "3818" "0" "3818" "0" "c.*1442G>A" "r.(=)" "p.(=)" "" "0000975874" "00003155" "50" "4144" "0" "4144" "0" "c.*1768G>A" "r.(=)" "p.(=)" "" "0000975875" "00003155" "50" "4400" "0" "4400" "0" "c.*2024C>G" "r.(=)" "p.(=)" "" "0000993751" "00003155" "30" "3497" "0" "3497" "0" "c.*1121C>G" "r.(=)" "p.(=)" "" "0000993752" "00003155" "50" "4030" "0" "4030" "0" "c.*1654C>T" "r.(=)" "p.(=)" "" "0000993753" "00003155" "50" "4112" "0" "4112" "0" "c.*1736C>A" "r.(=)" "p.(=)" "" "0000993754" "00003155" "30" "4419" "0" "4419" "0" "c.*2043G>T" "r.(=)" "p.(=)" "" "0001013899" "00003155" "50" "3509" "0" "3509" "0" "c.*1133T>C" "r.(=)" "p.(=)" "" "0001013900" "00003155" "50" "4030" "0" "4030" "0" "c.*1654C>T" "r.(=)" "p.(=)" "" "0001013901" "00003155" "30" "4156" "0" "4156" "0" "c.*1780G>A" "r.(=)" "p.(=)" "" "0001013902" "00003155" "50" "4216" "0" "4216" "0" "c.*1840G>C" "r.(=)" "p.(=)" "" "0001013903" "00003155" "30" "4223" "0" "4223" "0" "c.*1847C>A" "r.(=)" "p.(=)" "" "0001027788" "00003155" "90" "829" "2" "829" "2" "c.829+2T>G" "r.spl" "p.?" "" "0001027876" "00003155" "90" "2278" "0" "2278" "0" "c.2278C>T" "r.2278C>T" "p.Arg760Ter" "12" "0001027877" "00003155" "30" "-58" "0" "-58" "0" "c.-58G>C" "r.(?)" "p.(=)" "1" "0001027878" "00003155" "30" "247" "902" "247" "902" "c.247+902A>G" "r.(=)" "p.(=)" "" "0001027879" "00003155" "30" "248" "-834" "248" "-834" "c.248-834G>C" "r.(=)" "p.(=)" "1i" "0001027880" "00003155" "70" "248" "-14" "248" "-14" "c.248-14A>G" "r.248_381del" "p.Ser83AsnfsTer11" "1i" "0001034005" "00003155" "50" "3451" "0" "3451" "0" "c.*1075G>A" "r.(=)" "p.(=)" "" "0001034006" "00003155" "70" "3713" "0" "3720" "0" "c.*1337_*1344dup" "r.(=)" "p.(=)" "" "0001034007" "00003155" "50" "3766" "0" "3766" "0" "c.*1390C>A" "r.(=)" "p.(=)" "" "0001034008" "00003155" "50" "4346" "0" "4346" "0" "c.*1970C>T" "r.(=)" "p.(=)" "" "0001045927" "00003155" "50" "4216" "0" "4216" "0" "c.*1840G>C" "r.(=)" "p.(=)" "" "0001051309" "00003155" "90" "3767" "0" "3767" "0" "c.*1391G>A" "r.(=)" "p.(=)" "" "0001051310" "00003155" "50" "4030" "0" "4030" "0" "c.*1654C>T" "r.(=)" "p.(=)" "" "0001051311" "00003155" "50" "4156" "0" "4156" "0" "c.*1780G>A" "r.(=)" "p.(=)" "" "0001051312" "00003155" "50" "4216" "0" "4216" "0" "c.*1840G>C" "r.(=)" "p.(=)" "" "0001051313" "00003155" "50" "4282" "0" "4282" "0" "c.*1906G>A" "r.(=)" "p.(=)" "" "0001051314" "00003155" "50" "4384" "0" "4384" "0" "c.*2008A>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 52 "{{screeningid}}" "{{variantid}}" "0000112779" "0000181544" "0000112779" "0000181545" "0000112783" "0000181497" "0000112787" "0000181499" "0000112788" "0000181481" "0000112788" "0000181537" "0000112790" "0000181527" "0000112793" "0000181508" "0000112794" "0000181509" "0000112795" "0000181478" "0000112796" "0000181479" "0000112797" "0000181480" "0000112798" "0000181483" "0000112798" "0000181538" "0000112799" "0000181539" "0000112800" "0000181540" "0000112801" "0000181486" "0000112802" "0000181487" "0000112804" "0000181510" "0000112806" "0000181490" "0000112809" "0000181519" "0000112811" "0000181529" "0000112812" "0000181518" "0000112817" "0000181488" "0000112819" "0000181512" "0000112820" "0000181513" "0000112821" "0000181514" "0000112822" "0000181520" "0000112823" "0000181521" "0000112824" "0000181522" "0000112824" "0000181543" "0000112826" "0000181475" "0000112830" "0000181476" "0000112832" "0000181532" "0000112833" "0000181515" "0000112834" "0000181516" "0000112835" "0000181525" "0000112837" "0000181534" "0000112838" "0000181493" "0000112839" "0000181494" "0000112840" "0000181526" "0000249378" "0000578144" "0000391282" "0000821018" "0000394161" "0000825072" "0000428266" "0000905981" "0000449529" "0000959751" "0000464119" "0001027788" "0000464201" "0001027876" "0000464201" "0001027877" "0000464201" "0001027878" "0000464201" "0001027879" "0000464201" "0001027880"