### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DYX1C1)
# 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}}"
"DYX1C1" "dyslexia susceptibility 1 candidate 1" "15" "q21.1" "unknown" "NC_000015.9" "UD_132085340778" "" "http://www.LOVD.nl/DNAAF4" "" "1" "21493" "161582" "608706" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/DYX1C1_codingDNA.html" "1" "" "NOTE: gene symbol was recently changed from DYX1C1 to DNAAF4 (dynein axonemal assembly factor 4)." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-11-07 15:11:39" "00000" "2026-01-20 18:57:21"
## 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}}"
"00006809" "DYX1C1" "transcript variant 1" "003" "NM_130810.3" "" "NP_570722.2" "" "" "" "-368" "1625" "1263" "55800432" "55722506" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20"
"00431" "CILD25" "dyskinesia, ciliary, primary, type 25 (CILD-25)" "AR" "615482" "" "" "" "00006" "2014-06-21 17:04:15" "00006" "2021-12-10 21:51:32"
"01293" "DYX1" "dyslexia, type 1 (DYX-1)" "AD" "127700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"DYX1C1" "00431"
"DYX1C1" "01293"
## Individuals ## Do not remove or alter this header ##
## Count = 15
"{{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}}"
"00017599" "" "" "" "1" "" "00006" "{PMID:Casey 2014:24824133}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "yes" "Ireland" "" "0" "" "" "Irish Traveller" ""
"00017600" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "" ""
"00017601" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/brother" "M" "no" "Germany" "" "0" "" "" "" ""
"00017602" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "" ""
"00017603" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Belgium" "" "0" "" "" "" ""
"00017604" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "?" "Australia" "" "0" "" "" "" ""
"00017605" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "" ""
"00017606" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "" ""
"00017607" "" "" "" "2" "" "00006" "{PMID:Tarkar 2013:23872636}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents, affected sister of UNC-159" "F" "no" "United States" "" "0" "" "" "" ""
"00017608" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents, affected sister of UNC-158" "F" "no" "United States" "" "0" "" "" "" ""
"00017609" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "" "M" "no" "Australia" "" "0" "" "" "" ""
"00017610" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00017611" "" "" "" "1" "" "00006" "{PMID:Tarkar 2013:23872636}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00306994" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00468275" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "M" "" "United States" "" "0" "" "" "non-Hispanic;white" "GMKF_14"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 15
"{{individualid}}" "{{diseaseid}}"
"00017599" "00332"
"00017600" "00431"
"00017601" "00431"
"00017602" "00431"
"00017603" "00431"
"00017604" "00431"
"00017605" "00431"
"00017606" "00431"
"00017607" "00431"
"00017608" "00431"
"00017609" "00431"
"00017610" "00431"
"00017611" "00431"
"00306994" "00198"
"00468275" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00332, 00431, 01293
## Count = 15
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000015958" "00332" "00017599" "00006" "Isolated (sporadic)" "" "see paper; normal situs, EM revealed that, typically, both inner and outer dynein arms are absent" "" "" "" "" "" "" "" "" "" "" ""
"0000015959" "00269" "00017600" "00006" "Isolated (sporadic)" "15y" "situs inversus totalis, fertility unknown, chronic obstructive airway disease, chronic bronchitis, chronic cough, gastroesophageal reflux" "" "" "" "" "" "" "" "" "" "" ""
"0000015960" "00269" "00017601" "00006" "Isolated (sporadic)" "18y" "situs inversus totalis, fertility unknown, recurrent otitis media, chronic obstructive airway disease, learning disability, congnitive dysfunction" "" "" "" "" "" "" "" "" "" "" ""
"0000015961" "00269" "00017602" "00006" "Isolated (sporadic)" "12y" "situs inversus totalis, fertility unknown, recurrent otitis media, recurrent sinusitis" "" "" "" "" "" "" "" "" "" "" ""
"0000015962" "00269" "00017603" "00006" "Isolated (sporadic)" "43y" "situs solitus, infertile (treated, 3 daugthers by assisted reproduction), neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, recurrent pneumonia, chronic obstructive airway disease" "" "" "" "" "" "" "" "" "" "" ""
"0000015963" "00269" "00017604" "00006" "Isolated (sporadic)" "31y" "situs solitus, infertile (immotile sperm), neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, middle lobe parenchymal changes" "" "" "" "" "" "" "" "" "" "" ""
"0000015964" "00269" "00017605" "00006" "Isolated (sporadic)" "8y" "situs ambiguus (dextrocardia, polysplenia), fertility not applicable, neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, bronchiectasis" "" "" "" "" "" "" "" "" "" "" ""
"0000015965" "00269" "00017606" "00006" "Isolated (sporadic)" "36y" "situs solitus, fertility unknown, neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, bronchiectasis" "" "" "" "" "" "" "" "" "" "" ""
"0000015966" "00269" "00017607" "00006" "Isolated (sporadic)" "73y" "situs solitus, infertile, recurrent sinusitis" "" "" "" "" "" "" "" "" "" "" ""
"0000015967" "00269" "00017608" "00006" "Isolated (sporadic)" "63y" "situs inversus totalis, infertile, recurrent otitis media, recurrent sinusitis, bronchiectasis" "" "" "" "" "" "" "" "" "" "" ""
"0000015968" "00269" "00017609" "00006" "Isolated (sporadic)" "22y" "situs inversus totalis, infertile (immotile sperm), neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, bronchiectasis" "" "" "" "" "" "" "" "" "" "" ""
"0000015969" "00269" "00017610" "00006" "Isolated (sporadic)" "18y" "situs solitus, fertility unknown, neonatal respiratory distress, chronic rhinitis since infancy, chronic wet cough, microcephaly and learning disability" "" "" "" "" "" "" "" "" "" "" ""
"0000015970" "00269" "00017611" "00006" "Isolated (sporadic)" "16y" "situs ambiguus (left atrial isomerism, polysplenia), fertility not applicable, neonatal respiratory distress, chronic rhinitis since infancy, chronic wet cough, bronchiectasis, recurrent otitis media" "" "" "" "" "" "" "" "" "" "" ""
"0000232815" "00198" "00306994" "01164" "Unknown" "" "Muscular hypotonia (HP:0001252); Limb-girdle muscle weakness (HP:0003325); Ptosis (HP:0000508)" "" "" "" "" "" "" "" "" "" "" ""
"0000353427" "00198" "00468275" "00006" "Di-genic" "" "see paper; ..., ventricular septal defect, tetralogy of Fallot, pulmonary artery atresia, patent foramen ovale, HLpulmonary artery atresia, pulmonary stenosis; atrial situs solitus; right ventricular situs; arterial situs solitus; conotruncal defect" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" ""
## Screenings ## Do not remove or alter this header ##
## Count = 15
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000017582" "00017599" "1" "00006" "00006" "2014-06-20 23:46:41" "00006" "2014-06-21 21:46:02" "arraySNP;SEQ;SEQ-NG-I" "DNA" "" ""
"0000017583" "00017600" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017584" "00017601" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017585" "00017602" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017586" "00017603" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017587" "00017604" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017588" "00017605" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017589" "00017606" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017590" "00017607" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017591" "00017608" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017592" "00017609" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017593" "00017610" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000017594" "00017611" "1" "00006" "00006" "2014-06-21 20:52:03" "" "" "SEQ" "DNA" "" ""
"0000308131" "00306994" "1" "01164" "01164" "2020-07-27 09:49:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000469941" "00468275" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 22
"{{screeningid}}" "{{geneid}}"
"0000017582" "ADRA1D"
"0000017582" "AGXT"
"0000017582" "DYX1C1"
"0000017582" "EIF3CL"
"0000017582" "IRF5"
"0000017582" "LPHN3"
"0000017582" "MYO18B"
"0000017582" "PTPRJ"
"0000017582" "STARD9"
"0000017582" "TUBGCP6"
"0000017583" "DYX1C1"
"0000017584" "DYX1C1"
"0000017585" "DYX1C1"
"0000017586" "DYX1C1"
"0000017587" "DYX1C1"
"0000017588" "DYX1C1"
"0000017589" "DYX1C1"
"0000017590" "DYX1C1"
"0000017591" "DYX1C1"
"0000017592" "DYX1C1"
"0000017593" "DYX1C1"
"0000017594" "DYX1C1"
## 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 = 57
"{{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}}"
"0000037558" "3" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Casey 2014:24824133}" "" "3.5 kb del ex 7" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037559" "11" "90" "15" "55759189" "55759189" "del" "0" "00006" "DYX1C1_000004" "g.55759189del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55466991del" "" "pathogenic" ""
"0000037560" "10" "90" "15" "55783342" "55783342" "subst" "8.12499E-6" "00006" "DYX1C1_000006" "g.55783342G>T" "" "{PMID:Tarkar 2013:23872636}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55491144G>T" "" "pathogenic" ""
"0000037561" "11" "90" "15" "55759189" "55759189" "del" "0" "00006" "DYX1C1_000004" "g.55759189del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55466991del" "" "pathogenic" ""
"0000037562" "10" "90" "15" "55783334" "55783337" "del" "0" "00006" "DYX1C1_000007" "g.55783334_55783337del" "" "{PMID:Tarkar 2013:23872636}" "" "390_393delAAGT" "" "Germline" "yes" "" "0" "" "" "g.55491136_55491139del" "" "pathogenic" ""
"0000037563" "21" "90" "15" "55783401" "55783401" "subst" "0" "00006" "DYX1C1_000002" "g.55783401C>A" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55491203C>A" "" "pathogenic" ""
"0000037564" "1" "90" "15" "55731755" "55731755" "subst" "1.21886E-5" "00006" "DYX1C1_000001" "g.55731755G>A" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0004}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55439557G>A" "" "pathogenic" ""
"0000037565" "1" "90" "15" "55789930" "55789931" "dup" "0" "00006" "DYX1C1_000005" "g.55789930_55789931dup" "" "{PMID:Tarkar 2013:23872636}" "" "253_254insGA" "" "Germline" "yes" "" "0" "" "" "g.55497732_55497733dup" "" "pathogenic" ""
"0000037566" "1" "90" "15" "55742419" "55742419" "subst" "0" "00006" "DYX1C1_000009" "g.55742419C>A" "" "{PMID:Tarkar 2013:23872636}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55450221C>A" "" "pathogenic" ""
"0000037567" "1" "90" "15" "55742419" "55742419" "subst" "0" "00006" "DYX1C1_000009" "g.55742419C>A" "" "{PMID:Tarkar 2013:23872636}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55450221C>A" "" "pathogenic" ""
"0000037568" "1" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037569" "1" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037570" "1" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037571" "21" "90" "15" "55759189" "55759189" "del" "0" "00006" "DYX1C1_000004" "g.55759189del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55466991del" "" "pathogenic" ""
"0000037572" "21" "90" "15" "55759280" "55759280" "subst" "0" "00006" "DYX1C1_000008" "g.55759280C>T" "" "{PMID:Tarkar 2013:23872636}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55467082C>T" "" "pathogenic" ""
"0000037573" "21" "90" "15" "55759189" "55759189" "del" "0" "00006" "DYX1C1_000004" "g.55759189del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55466991del" "" "pathogenic" ""
"0000037574" "21" "90" "15" "55783334" "55783337" "del" "0" "00006" "DYX1C1_000007" "g.55783334_55783337del" "" "{PMID:Tarkar 2013:23872636}" "" "390_393delAAGT" "" "Germline" "yes" "" "0" "" "" "g.55491136_55491139del" "" "pathogenic" ""
"0000037575" "10" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037576" "2" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037577" "2" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037578" "2" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037579" "2" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037580" "2" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037581" "2" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000037582" "2" "90" "15" "55729297" "55732845" "del" "0" "00006" "DYX1C1_000003" "g.55729297_55732845del" "" "{PMID:Tarkar 2013:23872636}, {OMIM608706:0003}" "" "784-1066_894-2041del" "" "Germline" "yes" "" "0" "" "" "g.55437099_55440647del" "" "pathogenic" ""
"0000256509" "0" "50" "15" "55652389" "55652389" "subst" "0" "01943" "CCPG1_000001" "g.55652389A>C" "" "" "" "CCPG1(NM_004748.4):c.1582T>G (p.S528A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55360191A>C" "" "VUS" ""
"0000554817" "0" "50" "15" "55727164" "55727164" "subst" "4.07432E-6" "01804" "CCPG1_000002" "g.55727164T>A" "" "" "" "DYX1C1(NM_001033559.2):c.986A>T (p.(Asn329Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55434966T>A" "" "VUS" ""
"0000554818" "0" "50" "15" "55731682" "55731682" "subst" "0.00116172" "01804" "CCPG1_000003" "g.55731682T>A" "" "" "" "DNAAF4(NM_130810.4):c.881A>T (p.(Lys294Met), p.K294M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55439484T>A" "" "VUS" ""
"0000554819" "0" "50" "15" "55731754" "55731754" "subst" "0" "01804" "CCPG1_000004" "g.55731754C>G" "" "" "" "DYX1C1(NM_001033559.2):c.809G>C (p.(Arg270Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55439556C>G" "" "VUS" ""
"0000554820" "0" "90" "15" "55759223" "55759223" "subst" "0" "02325" "CCPG1_000005" "g.55759223A>C" "" "" "" "DNAAF4(NM_130810.4):c.542T>G (p.L181*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55467025A>C" "" "pathogenic" ""
"0000554821" "0" "10" "15" "55789910" "55789910" "subst" "0.0472891" "01804" "CCPG1_000006" "g.55789910C>T" "" "" "" "DNAAF4(NM_130810.4):c.271G>A (p.(Val91Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55497712C>T" "" "benign" ""
"0000615398" "0" "70" "15" "55724734" "55724734" "subst" "4.06151E-6" "02329" "CCPG1_000007" "g.55724734G>A" "" "" "" "DNAAF4(NM_130810.4):c.1114C>T (p.R372C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55432536G>A" "" "likely pathogenic" ""
"0000615399" "0" "90" "15" "55731780" "55731780" "subst" "0" "02329" "CCPG1_000008" "g.55731780C>T" "" "" "" "DNAAF4(NM_130810.4):c.784-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55439582C>T" "" "pathogenic" ""
"0000674971" "0" "70" "15" "55790518" "55790518" "subst" "5.85064E-5" "01164" "DYX1C1_000010" "g.55790518G>A" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "rs762704959" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000691820" "0" "50" "15" "55722919" "55722919" "subst" "0" "01943" "CCPG1_000009" "g.55722919A>T" "" "" "" "DNAAF4(NM_001033559.2):c.1106T>A (p.L369*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725193" "0" "50" "15" "55652305" "55652305" "subst" "8.15468E-6" "01943" "CCPG1_000010" "g.55652305T>C" "" "" "" "CCPG1(NM_004748.4):c.1666A>G (p.K556E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725194" "0" "50" "15" "55652618" "55652618" "subst" "0" "01943" "CCPG1_000011" "g.55652618C>A" "" "" "" "CCPG1(NM_004748.4):c.1353G>T (p.L451F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000806772" "0" "50" "15" "55724715" "55724715" "subst" "0" "02329" "CCPG1_000013" "g.55724715T>G" "" "" "" "DNAAF4(NM_130810.4):c.1133A>C (p.Q378P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000854089" "0" "50" "15" "55727237" "55727237" "subst" "0" "02325" "CCPG1_000014" "g.55727237T>G" "" "" "" "DNAAF4(NM_130810.4):c.913A>C (p.N305H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000854090" "0" "30" "15" "55759342" "55759342" "subst" "0" "01943" "CCPG1_000015" "g.55759342C>T" "" "" "" "DNAAF4(NM_130810.3):c.423G>A (p.R141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854091" "0" "30" "15" "55759345" "55759345" "subst" "0" "01943" "CCPG1_000016" "g.55759345C>T" "" "" "" "DNAAF4(NM_130810.3):c.420G>A (p.E140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000892156" "0" "70" "15" "55727162" "55727162" "subst" "2.44688E-5" "02329" "CCPG1_000017" "g.55727162G>A" "" "" "" "DNAAF4(NM_130810.4):c.988C>T (p.R330W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000892157" "0" "50" "15" "55731682" "55731682" "subst" "0.00116172" "02325" "CCPG1_000003" "g.55731682T>A" "" "" "" "DNAAF4(NM_130810.4):c.881A>T (p.(Lys294Met), p.K294M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000892158" "0" "90" "15" "55759250" "55759250" "dup" "0" "02329" "CCPG1_000018" "g.55759250dup" "" "" "" "DNAAF4(NM_130810.4):c.523dupA (p.I175Nfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000926001" "0" "30" "15" "55790426" "55790426" "subst" "8.13809E-5" "02325" "CCPG1_000019" "g.55790426G>A" "" "" "" "DNAAF4(NM_130810.4):c.102C>T (p.F34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000967856" "0" "50" "15" "55783427" "55783427" "subst" "0" "02325" "CCPG1_000020" "g.55783427C>T" "" "" "" "DNAAF4(NM_130810.4):c.299G>A (p.R100K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981303" "0" "50" "15" "55727128" "55727128" "subst" "8.20351E-6" "01804" "CCPG1_000023" "g.55727128T>A" "" "" "" "DNAAF4(NM_130810.4):c.1022A>T (p.(His341Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026465" "0" "90" "15" "55731780" "55731780" "subst" "0" "02327" "CCPG1_000008" "g.55731780C>T" "" "" "" "DNAAF4(NM_130810.4):c.784-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001026466" "0" "50" "15" "55742479" "55742479" "subst" "0" "02325" "CCPG1_000024" "g.55742479A>C" "" "" "" "DNAAF4(NM_130810.4):c.724T>G (p.F242V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001040450" "0" "50" "15" "55731701" "55731701" "subst" "0.000150271" "01804" "CCPG1_000026" "g.55731701T>C" "" "" "" "DNAAF4(NM_130810.4):c.862A>G (p.(Lys288Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001040451" "0" "50" "15" "55789966" "55789966" "subst" "5.68643E-5" "01804" "CCPG1_000027" "g.55789966A>C" "" "" "" "DNAAF4(NM_130810.4):c.215T>G (p.(Val72Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001040452" "0" "50" "15" "55789984" "55789984" "subst" "0.000223394" "01804" "CCPG1_000028" "g.55789984A>G" "" "" "" "DNAAF4(NM_130810.4):c.197T>C (p.(Ile66Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001040453" "0" "30" "15" "55790414" "55790414" "subst" "0.0134139" "01804" "CCPG1_000029" "g.55790414G>T" "" "" "" "DNAAF4(NM_130810.4):c.114C>A (p.(Asn38Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001058017" "1" "70" "15" "55759311" "55759311" "subst" "0.000181147" "00006" "DYX1C1_000011" "g.55759311G>A" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.55467113G>A" "" "likely pathogenic (!)" ""
"0001066222" "0" "50" "15" "55652089" "55652089" "subst" "0.0010719" "01804" "CCPG1_000030" "g.55652089C>G" "" "" "" "CCPG1(NM_001204450.2):c.1882G>C (p.(Ala628Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001066223" "0" "50" "15" "55664165" "55664165" "subst" "2.43799E-5" "01804" "CCPG1_000031" "g.55664165G>A" "" "" "" "CCPG1(NM_001204450.2):c.532C>T (p.(Arg178Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001066224" "0" "90" "15" "55759341" "55759341" "del" "0" "02325" "CCPG1_000032" "g.55759341del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
## 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 DYX1C1
## Count = 57
"{{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}}"
"0000037558" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_7i"
"0000037559" "00006809" "90" "583" "0" "583" "0" "c.583del" "r.(?)" "p.(Ile195*)" "5"
"0000037560" "00006809" "90" "384" "0" "384" "0" "c.384C>A" "r.(?)" "p.(Tyr128*)" "4"
"0000037561" "00006809" "90" "583" "0" "583" "0" "c.583del" "r.(?)" "p.(Ile195*)" "5"
"0000037562" "00006809" "90" "390" "0" "393" "0" "c.390_393del" "r.(?)" "p.(Val132*)" "4"
"0000037563" "00006809" "90" "325" "0" "325" "0" "c.325G>T" "r.(?)" "p.(Glu109*)" "4"
"0000037564" "00006809" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "7"
"0000037565" "00006809" "90" "252" "0" "253" "0" "c.252_253dup" "r.(?)" "p.(Thr85Argfs*5)" "3"
"0000037566" "00006809" "90" "783" "1" "783" "1" "c.783+1G>T" "r.spl" "p.?" "6"
"0000037567" "00006809" "90" "783" "1" "783" "1" "c.783+1G>T" "r.spl" "p.?" "6"
"0000037568" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000037569" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000037570" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000037571" "00006809" "90" "583" "0" "583" "0" "c.583del" "r.(?)" "p.(Ile195*)" "5"
"0000037572" "00006809" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Trp162*)" "5"
"0000037573" "00006809" "90" "583" "0" "583" "0" "c.583del" "r.(?)" "p.(Ile195*)" "5"
"0000037574" "00006809" "90" "390" "0" "393" "0" "c.390_393del" "r.(?)" "p.(Val132*)" "4"
"0000037575" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000037576" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000037577" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000037578" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000037579" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000037580" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000037581" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000037582" "00006809" "90" "784" "-1037" "894" "-2012" "c.784-1037_894-2012del" "r.(del)" "p.?" "6i_71"
"0000256509" "00006809" "50" "71742" "0" "71742" "0" "c.*70479T>G" "r.(=)" "p.(=)" ""
"0000554817" "00006809" "50" "986" "0" "986" "0" "c.986A>T" "r.(?)" "p.(Asn329Ile)" ""
"0000554818" "00006809" "50" "881" "0" "881" "0" "c.881A>T" "r.(?)" "p.(Lys294Met)" ""
"0000554819" "00006809" "50" "809" "0" "809" "0" "c.809G>C" "r.(?)" "p.(Arg270Pro)" ""
"0000554820" "00006809" "90" "542" "0" "542" "0" "c.542T>G" "r.(?)" "p.(Leu181Ter)" ""
"0000554821" "00006809" "10" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Val91Ile)" ""
"0000615398" "00006809" "70" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Cys)" ""
"0000615399" "00006809" "90" "784" "-1" "784" "-1" "c.784-1G>A" "r.spl?" "p.?" ""
"0000674971" "00006809" "70" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Gln4*)" ""
"0000691820" "00006809" "50" "1212" "0" "1212" "0" "c.1212T>A" "r.(?)" "p.(Ile404=)" ""
"0000725193" "00006809" "50" "71826" "0" "71826" "0" "c.*70563A>G" "r.(=)" "p.(=)" ""
"0000725194" "00006809" "50" "71513" "0" "71513" "0" "c.*70250G>T" "r.(=)" "p.(=)" ""
"0000806772" "00006809" "50" "1133" "0" "1133" "0" "c.1133A>C" "r.(?)" "p.(Gln378Pro)" ""
"0000854089" "00006809" "50" "913" "0" "913" "0" "c.913A>C" "r.(?)" "p.(Asn305His)" ""
"0000854090" "00006809" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Arg141=)" ""
"0000854091" "00006809" "30" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Glu140=)" ""
"0000892156" "00006809" "70" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Trp)" ""
"0000892157" "00006809" "50" "881" "0" "881" "0" "c.881A>T" "r.(?)" "p.(Lys294Met)" ""
"0000892158" "00006809" "90" "523" "0" "523" "0" "c.523dup" "r.(?)" "p.(Ile175Asnfs*15)" ""
"0000926001" "00006809" "30" "102" "0" "102" "0" "c.102C>T" "r.(?)" "p.(Phe34=)" ""
"0000967856" "00006809" "50" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100Lys)" ""
"0000981303" "00006809" "50" "1022" "0" "1022" "0" "c.1022A>T" "r.(?)" "p.(His341Leu)" ""
"0001026465" "00006809" "90" "784" "-1" "784" "-1" "c.784-1G>A" "r.spl?" "p.?" ""
"0001026466" "00006809" "50" "724" "0" "724" "0" "c.724T>G" "r.(?)" "p.(Phe242Val)" ""
"0001040450" "00006809" "50" "862" "0" "862" "0" "c.862A>G" "r.(?)" "p.(Lys288Glu)" ""
"0001040451" "00006809" "50" "215" "0" "215" "0" "c.215T>G" "r.(?)" "p.(Val72Gly)" ""
"0001040452" "00006809" "50" "197" "0" "197" "0" "c.197T>C" "r.(?)" "p.(Ile66Thr)" ""
"0001040453" "00006809" "30" "114" "0" "114" "0" "c.114C>A" "r.(?)" "p.(Asn38Lys)" ""
"0001058017" "00006809" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Trp)" ""
"0001066222" "00006809" "50" "72042" "0" "72042" "0" "c.*70779G>C" "r.(=)" "p.(=)" ""
"0001066223" "00006809" "50" "59966" "0" "59966" "0" "c.*58703C>T" "r.(=)" "p.(=)" ""
"0001066224" "00006809" "90" "430" "0" "430" "0" "c.430del" "r.(?)" "p.(Ile144*)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 27
"{{screeningid}}" "{{variantid}}"
"0000017582" "0000037558"
"0000017583" "0000037559"
"0000017583" "0000037571"
"0000017584" "0000037560"
"0000017584" "0000037572"
"0000017585" "0000037561"
"0000017585" "0000037573"
"0000017586" "0000037562"
"0000017586" "0000037574"
"0000017587" "0000037563"
"0000017587" "0000037575"
"0000017588" "0000037564"
"0000017588" "0000037576"
"0000017589" "0000037565"
"0000017589" "0000037577"
"0000017590" "0000037566"
"0000017590" "0000037578"
"0000017591" "0000037567"
"0000017591" "0000037579"
"0000017592" "0000037568"
"0000017592" "0000037580"
"0000017593" "0000037569"
"0000017593" "0000037581"
"0000017594" "0000037570"
"0000017594" "0000037582"
"0000308131" "0000674971"
"0000469941" "0001058017"