### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDT1) # 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}}" "CDT1" "chromatin licensing and DNA replication factor 1" "16" "q24.3" "unknown" "NG_028266.1" "UD_132084402275" "" "https://www.LOVD.nl/CDT1" "" "1" "24576" "81620" "605525" "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/CDT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-01 08:50:54" "00000" "2025-05-05 21:14:00" ## 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}}" "00004900" "CDT1" "chromatin licensing and DNA replication factor 1" "001" "NM_030928.3" "" "NP_112190.2" "" "" "" "-54" "2621" "1641" "88870186" "88875666" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00997" "MGORS4" "Meier-Gorlin syndrome, type 4 (MGORS4)" "AR" "613804" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-12-01 08:48:59" "05169" "MGORS" "Meier-Gorlin syndrome (MGORS)" "" "" "" "" "" "00006" "2016-05-26 15:16:56" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CDT1" "00139" "CDT1" "00997" "CDT1" "05169" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00050681" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00291578" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291579" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320434" "" "" "" "1" "" "03241" "" "" "F" "no" "United Kingdom (Great Britain)" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00050681" "00198" "00291578" "00198" "00291579" "00198" "00320434" "00997" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00997, 05169 ## Count = 2 "{{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}}" "0000037293" "00198" "00050681" "00006" "Unknown" "" "intrauterine growth retardation, frontal bossing, abnormality of the metopic suture, deeply set eye, hypertelorism, abnormality of eye movement, abnormality of body height, low-set ears, abnormality of the skeletal system, clinodactyly of the 5th finger, short palm, small feet, bilateral single transverse palmar creases, bilateral cryptorchidism, secundum atrial septal defect, short stature, abnormality of the ear, downslanted palpebral fissures, strabismus, frontal upsweep of hair, tapered finger" "" "" "" "" "" "" "" "" "" "" "" "0000242410" "00997" "00320434" "03241" "Familial, autosomal recessive" "49y" "" "" "" "" "" "" "" "" "" "MGORS" "MGORS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050626" "00050681" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000292746" "00291578" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292747" "00291579" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321621" "00320434" "1" "03241" "03241" "2020-11-30 09:59:46" "" "" "SEQ-NG-I" "DNA" "blood" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000050626" "CDT1" ## 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 = 74 "{{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}}" "0000079606" "21" "90" "16" "88871972" "88871972" "subst" "0.00235021" "00006" "CDT1_000002" "g.88871972G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.88805564G>A" "" "pathogenic" "" "0000079697" "11" "90" "16" "88873692" "88873692" "subst" "3.7073E-5" "00006" "CDT1_000001" "g.88873692C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.88807284C>T" "" "pathogenic" "" "0000253703" "0" "10" "16" "88870369" "88870369" "subst" "0.000597621" "01943" "CDT1_000003" "g.88870369A>C" "" "" "" "CDT1(NM_030928.3):c.130A>C (p.T44P, p.(Thr44Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88803961A>C" "" "benign" "" "0000261020" "0" "30" "16" "88876299" "88876299" "subst" "0.0040121" "02326" "APRT_000002" "g.88876299G>A" "" "" "" "APRT(NM_000485.3):c.401-51C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88809891G>A" "" "likely benign" "" "0000262727" "0" "50" "16" "88878225" "88878225" "subst" "0" "01943" "APRT_000003" "g.88878225C>T" "" "" "" "APRT(NM_000485.2):c.80+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88811817C>T" "" "VUS" "" "0000266651" "0" "10" "16" "88872145" "88872145" "subst" "0.999438" "02325" "CDT1_000010" "g.88872145T>C" "" "" "" "CDT1(NM_030928.4):c.700T>C (p.C234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88805737T>C" "" "benign" "" "0000266652" "0" "10" "16" "88872511" "88872511" "subst" "0.79983" "02325" "CDT1_000012" "g.88872511T>C" "" "" "" "CDT1(NM_030928.4):c.915T>C (p.H305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88806103T>C" "" "benign" "" "0000324988" "0" "50" "16" "88870426" "88870426" "subst" "0" "01804" "CDT1_000004" "g.88870426A>G" "" "" "" "CDT1(NM_030928.3):c.187A>G (p.(Arg63Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804018A>G" "" "VUS" "" "0000324989" "0" "50" "16" "88871016" "88871016" "subst" "0.00127393" "01804" "CDT1_000006" "g.88871016A>G" "" "" "" "CDT1(NM_030928.3):c.292A>G (p.(Ile98Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804608A>G" "" "VUS" "" "0000324990" "0" "50" "16" "88871189" "88871189" "subst" "8.17588E-6" "01804" "CDT1_000007" "g.88871189C>A" "" "" "" "CDT1(NM_030928.3):c.371C>A (p.(Ala124Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804781C>A" "" "VUS" "" "0000324991" "0" "50" "16" "88871291" "88871291" "subst" "0.00018951" "01804" "CDT1_000008" "g.88871291G>A" "" "" "" "CDT1(NM_030928.3):c.473G>A (p.R158H, p.(Arg158His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804883G>A" "" "VUS" "" "0000324993" "0" "50" "16" "88872534" "88872534" "subst" "0" "01804" "CDT1_000013" "g.88872534G>T" "" "" "" "CDT1(NM_030928.3):c.933+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88806126G>T" "" "VUS" "" "0000324995" "0" "50" "16" "88873714" "88873714" "subst" "0.000200907" "01804" "CDT1_000015" "g.88873714A>C" "" "" "" "CDT1(NM_030928.3):c.1301A>C (p.Q434P, p.(Gln434Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88807306A>C" "" "VUS" "" "0000324996" "0" "50" "16" "88873780" "88873780" "subst" "0.00288201" "01804" "CDT1_000016" "g.88873780A>C" "" "" "" "CDT1(NM_030928.3):c.1367A>C (p.(Glu456Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88807372A>C" "" "VUS" "" "0000324997" "0" "50" "16" "88873885" "88873885" "subst" "0.00175184" "01804" "CDT1_000017" "g.88873885G>A" "" "" "" "CDT1(NM_030928.3):c.1472G>A (p.(Ser491Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88807477G>A" "" "VUS" "" "0000324998" "0" "50" "16" "88876121" "88876121" "subst" "1.22017E-5" "01804" "APRT_000001" "g.88876121G>A" "" "" "" "APRT(NM_000485.2):c.528C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88809713G>A" "" "VUS" "" "0000340515" "0" "10" "16" "88870967" "88870967" "subst" "0.0960693" "02327" "CDT1_000005" "g.88870967T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804559T>C" "" "benign" "" "0000340516" "0" "10" "16" "88871253" "88871253" "subst" "0.00296941" "02327" "CDT1_000019" "g.88871253G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804845G>A" "" "benign" "" "0000340517" "0" "10" "16" "88871908" "88871908" "subst" "0.0833279" "02327" "CDT1_000020" "g.88871908A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88805500A>G" "" "benign" "" "0000340518" "0" "10" "16" "88872511" "88872511" "subst" "0.79983" "02327" "CDT1_000012" "g.88872511T>C" "" "" "" "CDT1(NM_030928.4):c.915T>C (p.H305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88806103T>C" "" "benign" "" "0000340519" "0" "10" "16" "88874632" "88874632" "subst" "0.426076" "02327" "CDT1_000018" "g.88874632C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88808224C>G" "" "benign" "" "0000341313" "0" "10" "16" "88872229" "88872229" "subst" "0.440026" "02327" "CDT1_000011" "g.88872229A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88805821A>G" "" "benign" "" "0000341490" "0" "10" "16" "88874655" "88874655" "subst" "0.00603196" "02327" "CDT1_000024" "g.88874655C>T" "" "" "" "CDT1(NM_030928.3):c.1610C>T (p.(Ala537Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88808247C>T" "" "benign" "" "0000342947" "0" "90" "16" "88873798" "88873798" "subst" "5.72129E-5" "02327" "CDT1_000022" "g.88873798G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88807390G>A" "" "pathogenic" "" "0000344323" "0" "10" "16" "88872145" "88872145" "subst" "0.999438" "02327" "CDT1_000010" "g.88872145T>C" "" "" "" "CDT1(NM_030928.4):c.700T>C (p.C234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88805737T>C" "" "benign" "" "0000348465" "0" "30" "16" "88873824" "88873824" "subst" "0.00222639" "02327" "CDT1_000023" "g.88873824C>G" "" "" "" "CDT1(NM_030928.3):c.1411C>G (p.(Pro471Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88807416C>G" "" "likely benign" "" "0000559717" "0" "30" "16" "88870419" "88870419" "subst" "0" "01804" "CDT1_000025" "g.88870419C>G" "" "" "" "CDT1(NM_030928.3):c.180C>G (p.(Asp60Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88804011C>G" "" "likely benign" "" "0000559718" "0" "30" "16" "88871052" "88871052" "subst" "0" "01804" "APRT_000004" "g.88871052C>T" "" "" "" "CDT1(NM_030928.3):c.328C>T (p.(His110Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88804644C>T" "" "likely benign" "" "0000559719" "0" "50" "16" "88871951" "88871951" "subst" "0.000325911" "01804" "APRT_000005" "g.88871951C>T" "" "" "" "CDT1(NM_030928.3):c.592C>T (p.(Arg198Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88805543C>T" "" "VUS" "" "0000559720" "0" "30" "16" "88871972" "88871972" "subst" "0.00235021" "01804" "CDT1_000002" "g.88871972G>A" "" "" "" "CDT1(NM_030928.3):c.613G>A (p.(Gly205Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88805564G>A" "" "likely benign" "" "0000559721" "0" "50" "16" "88872169" "88872169" "subst" "1.22175E-5" "01804" "APRT_000006" "g.88872169G>A" "" "" "" "CDT1(NM_030928.3):c.724G>A (p.(Val242Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88805761G>A" "" "VUS" "" "0000559722" "0" "30" "16" "88872512" "88872512" "subst" "0.000291109" "01804" "APRT_000007" "g.88872512G>A" "" "" "" "CDT1(NM_030928.3):c.916G>A (p.(Val306Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88806104G>A" "" "likely benign" "" "0000559723" "0" "30" "16" "88872927" "88872927" "subst" "0" "01804" "APRT_000008" "g.88872927G>T" "" "" "" "CDT1(NM_030928.3):c.967G>T (p.(Val323Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88806519G>T" "" "likely benign" "" "0000559724" "0" "30" "16" "88873824" "88873824" "subst" "0.00222639" "01804" "CDT1_000023" "g.88873824C>G" "" "" "" "CDT1(NM_030928.3):c.1411C>G (p.(Pro471Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88807416C>G" "" "likely benign" "" "0000559728" "0" "30" "16" "88874655" "88874655" "subst" "0.00603196" "01804" "CDT1_000024" "g.88874655C>T" "" "" "" "CDT1(NM_030928.3):c.1610C>T (p.(Ala537Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88808247C>T" "" "likely benign" "" "0000559729" "0" "30" "16" "88874666" "88874666" "subst" "0" "01804" "APRT_000012" "g.88874666C>T" "" "" "" "CDT1(NM_030928.3):c.1621C>T (p.(Arg541Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88808258C>T" "" "likely benign" "" "0000559730" "0" "50" "16" "88874676" "88874676" "subst" "0.00145502" "01804" "APRT_000013" "g.88874676A>T" "" "" "" "CDT1(NM_030928.3):c.1631A>T (p.E544V, p.(Glu544Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88808268A>T" "" "VUS" "" "0000559731" "0" "30" "16" "88876120" "88876120" "subst" "0.000345728" "01804" "APRT_000014" "g.88876120G>A" "" "" "" "APRT(NM_000485.2):c.529C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88809712G>A" "" "likely benign" "" "0000616237" "0" "30" "16" "88873903" "88873924" "dup" "0" "01804" "APRT_000038" "g.88873903_88873924dup" "" "" "" "CDT1(NM_030928.3):c.1477+3_1477+4insCGTGCAGGGCGGGGTGAAGGGG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88807495_88807516dup" "" "likely benign" "" "0000616238" "0" "30" "16" "88874676" "88874676" "subst" "0.00145502" "01943" "APRT_000013" "g.88874676A>T" "" "" "" "CDT1(NM_030928.3):c.1631A>T (p.E544V, p.(Glu544Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88808268A>T" "" "likely benign" "" "0000623569" "0" "50" "16" "88873714" "88873714" "subst" "0.000200907" "01943" "CDT1_000015" "g.88873714A>C" "" "" "" "CDT1(NM_030928.3):c.1301A>C (p.Q434P, p.(Gln434Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88807306A>C" "" "VUS" "" "0000649435" "1" "50" "16" "88871972" "88871972" "subst" "0.00235021" "03575" "CDT1_000002" "g.88871972G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs145552478}" "Germline" "" "rs145552478" "0" "" "" "g.88805564G>A" "" "VUS" "" "0000649436" "1" "50" "16" "88872203" "88872203" "subst" "0.000370847" "03575" "CDT1_000026" "g.88872203G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs148337159}" "Germline" "" "rs148337159" "0" "" "" "g.88805795G>A" "" "VUS" "" "0000680725" "0" "30" "16" "88873455" "88873455" "subst" "0.000967078" "01804" "APRT_000066" "g.88873455G>A" "" "" "" "CDT1(NM_030928.3):c.1123-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692198" "0" "30" "16" "88872918" "88872918" "subst" "5.87889E-5" "01804" "APRT_000067" "g.88872918G>A" "" "" "" "CDT1(NM_030928.3):c.958G>A (p.(Ala320Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692199" "0" "30" "16" "88873770" "88873770" "subst" "0.00130367" "01804" "APRT_000068" "g.88873770C>T" "" "" "" "CDT1(NM_030928.3):c.1357C>T (p.(Arg453Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692200" "0" "50" "16" "88873815" "88873815" "subst" "7.344E-5" "01943" "APRT_000069" "g.88873815G>A" "" "" "" "CDT1(NM_030928.3):c.1402G>A (p.E468K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704532" "1" "70" "16" "88873038" "88873040" "del" "0" "03241" "CDT1_000027" "g.88873038_88873040del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.88806630_88806632del" "" "likely pathogenic (recessive)" "ACMG" "0000704533" "2" "90" "16" "88873665" "88873665" "subst" "0" "03241" "CDT1_000028" "g.88873665A>G" "" "" "" "" "minigene splicing analysis - no canonical reference transcript produced" "Germline" "yes" "" "0" "" "" "g.88807257A>G" "" "likely pathogenic (recessive)" "ACMG" "0000807696" "0" "30" "16" "88871291" "88871291" "subst" "0.00018951" "01943" "CDT1_000008" "g.88871291G>A" "" "" "" "CDT1(NM_030928.3):c.473G>A (p.R158H, p.(Arg158His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807697" "0" "30" "16" "88871912" "88871912" "subst" "0.000664514" "01804" "APRT_000070" "g.88871912G>C" "" "" "" "CDT1(NM_030928.3):c.553G>C (p.(Val185Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831176" "0" "50" "16" "88871004" "88871004" "subst" "8.15867E-6" "03779" "CDT1_000029" "g.88871004C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs757078098" "0" "" "" "" "" "VUS" "" "0000831400" "0" "30" "16" "88872968" "88872968" "subst" "2.55752E-5" "03779" "CDT1_000030" "g.88872968C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs778195622" "0" "" "" "" "" "likely benign" "" "0000854706" "0" "70" "16" "88876191" "88876191" "subst" "1.62873E-5" "02326" "APRT_000074" "g.88876191C>T" "" "" "" "APRT(NM_000485.3):c.458G>A (p.C153Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000864995" "0" "30" "16" "88870369" "88870369" "subst" "0.000597621" "01804" "CDT1_000003" "g.88870369A>C" "" "" "" "CDT1(NM_030928.3):c.130A>C (p.T44P, p.(Thr44Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864996" "0" "30" "16" "88870424" "88870424" "subst" "0.00668345" "01804" "CDT1_000031" "g.88870424C>T" "" "" "" "CDT1(NM_030928.3):c.185C>T (p.(Ala62Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864997" "0" "30" "16" "88871222" "88871222" "subst" "0.00108323" "01804" "APRT_000071" "g.88871222C>T" "" "" "" "CDT1(NM_030928.3):c.404C>T (p.(Ala135Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864998" "0" "30" "16" "88871282" "88871282" "subst" "0" "01804" "APRT_000072" "g.88871282C>T" "" "" "" "CDT1(NM_030928.3):c.464C>T (p.(Ala155Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864999" "0" "50" "16" "88873609" "88873609" "subst" "5.78546E-5" "01943" "APRT_000073" "g.88873609C>T" "" "" "" "CDT1(NM_030928.3):c.1273C>T (p.R425W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893226" "0" "50" "16" "88872020" "88872020" "subst" "8.1654E-6" "01804" "APRT_000075" "g.88872020C>T" "" "" "" "CDT1(NM_030928.3):c.661C>T (p.(Arg221Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914711" "0" "30" "16" "88878055" "88878055" "subst" "0.00256337" "02326" "APRT_000076" "g.88878055C>A" "" "" "" "APRT(NM_000485.3):c.90G>T (p.S30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950763" "0" "30" "16" "88876886" "88876886" "subst" "0.000894609" "02326" "APRT_000016" "g.88876886C>T" "" "" "" "APRT(NM_000485.3):c.266G>A (p.R89Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982179" "0" "50" "16" "88871230" "88871230" "subst" "0.000205646" "01804" "APRT_000077" "g.88871230C>T" "" "" "" "CDT1(NM_030928.4):c.412C>T (p.(Arg138Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982180" "0" "30" "16" "88872183" "88872183" "subst" "0.00310736" "01804" "APRT_000078" "g.88872183C>T" "" "" "" "CDT1(NM_030928.4):c.738C>T (p.(Ser246=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982181" "0" "30" "16" "88872885" "88872885" "subst" "0" "01804" "APRT_000079" "g.88872885T>C" "" "" "" "CDT1(NM_030928.4):c.934-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982182" "0" "50" "16" "88872934" "88872934" "subst" "0" "01804" "APRT_000080" "g.88872934A>G" "" "" "" "CDT1(NM_030928.4):c.974A>G (p.(Glu325Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982183" "0" "30" "16" "88876813" "88876813" "subst" "1.66142E-5" "02326" "APRT_000081" "g.88876813C>T" "" "" "" "APRT(NM_000485.3):c.321+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002725" "0" "30" "16" "88873543" "88873543" "subst" "0.000197378" "01804" "APRT_000082" "g.88873543C>T" "" "" "" "CDT1(NM_030928.3):c.1207C>T (p.(Pro403Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002726" "0" "50" "16" "88873749" "88873750" "ins" "2.47145E-5" "01804" "APRT_000083" "g.88873749_88873750insGCTT" "" "" "" "CDT1(NM_030928.3):c.1336_1337insGCTT (p.(Gln446fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002727" "0" "50" "16" "88873751" "88873752" "ins" "2.88002E-5" "01804" "APRT_000084" "g.88873751_88873752insAA" "" "" "" "CDT1(NM_030928.3):c.1338_1339insAA (p.(Arg447fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026791" "0" "30" "16" "88877983" "88877983" "subst" "0.00285642" "02326" "APRT_000086" "g.88877983G>A" "" "" "" "APRT(NM_000485.3):c.162C>T (p.H54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041454" "0" "50" "16" "88870249" "88870249" "subst" "0" "01804" "CDT1_000032" "g.88870249C>A" "" "" "" "CDT1(NM_030928.4):c.10C>A (p.(Arg4Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041455" "0" "30" "16" "88871316" "88871316" "subst" "1.36465E-5" "01804" "APRT_000087" "g.88871316G>C" "" "" "" "CDT1(NM_030928.4):c.488+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041456" "0" "50" "16" "88871969" "88871969" "subst" "4.07345E-6" "01804" "APRT_000088" "g.88871969G>A" "" "" "" "CDT1(NM_030928.4):c.610G>A (p.(Val204Met))" "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 CDT1 ## Count = 74 "{{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}}" "0000079606" "00004900" "00" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Gly205Ser)" "" "0000079697" "00004900" "00" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427*)" "" "0000253703" "00004900" "10" "130" "0" "130" "0" "c.130A>C" "r.(?)" "p.(Thr44Pro)" "" "0000261020" "00004900" "30" "3254" "0" "3254" "0" "c.*1613G>A" "r.(=)" "p.(=)" "" "0000262727" "00004900" "50" "5180" "0" "5180" "0" "c.*3539C>T" "r.(=)" "p.(=)" "" "0000266651" "00004900" "10" "700" "0" "700" "0" "c.700T>C" "r.(?)" "p.(Cys234Arg)" "" "0000266652" "00004900" "10" "915" "0" "915" "0" "c.915T>C" "r.(?)" "p.(His305=)" "" "0000324988" "00004900" "50" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Arg63Gly)" "" "0000324989" "00004900" "50" "292" "0" "292" "0" "c.292A>G" "r.(?)" "p.(Ile98Val)" "" "0000324990" "00004900" "50" "371" "0" "371" "0" "c.371C>A" "r.(?)" "p.(Ala124Glu)" "" "0000324991" "00004900" "50" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "" "0000324993" "00004900" "50" "933" "5" "933" "5" "c.933+5G>T" "r.spl?" "p.?" "" "0000324995" "00004900" "50" "1301" "0" "1301" "0" "c.1301A>C" "r.(?)" "p.(Gln434Pro)" "" "0000324996" "00004900" "50" "1367" "0" "1367" "0" "c.1367A>C" "r.(?)" "p.(Glu456Ala)" "" "0000324997" "00004900" "50" "1472" "0" "1472" "0" "c.1472G>A" "r.(?)" "p.(Ser491Asn)" "" "0000324998" "00004900" "50" "3076" "0" "3076" "0" "c.*1435G>A" "r.(=)" "p.(=)" "" "0000340515" "00004900" "10" "243" "0" "243" "0" "c.243T>C" "r.(?)" "p.(Ser81=)" "" "0000340516" "00004900" "10" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Gln145=)" "" "0000340517" "00004900" "10" "549" "0" "549" "0" "c.549A>G" "r.(?)" "p.(Gly183=)" "" "0000340518" "00004900" "10" "915" "0" "915" "0" "c.915T>C" "r.(?)" "p.(His305=)" "" "0000340519" "00004900" "10" "1587" "0" "1587" "0" "c.1587C>G" "r.(?)" "p.(Leu529=)" "" "0000341313" "00004900" "10" "784" "0" "784" "0" "c.784A>G" "r.(?)" "p.(Thr262Ala)" "" "0000341490" "00004900" "10" "1610" "0" "1610" "0" "c.1610C>T" "r.(?)" "p.(Ala537Val)" "" "0000342947" "00004900" "90" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000344323" "00004900" "10" "700" "0" "700" "0" "c.700T>C" "r.(?)" "p.(Cys234Arg)" "" "0000348465" "00004900" "30" "1411" "0" "1411" "0" "c.1411C>G" "r.(?)" "p.(Pro471Ala)" "" "0000559717" "00004900" "30" "180" "0" "180" "0" "c.180C>G" "r.(?)" "p.(Asp60Glu)" "" "0000559718" "00004900" "30" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(His110Tyr)" "" "0000559719" "00004900" "50" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Cys)" "" "0000559720" "00004900" "30" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Gly205Ser)" "" "0000559721" "00004900" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Met)" "" "0000559722" "00004900" "30" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Val306Ile)" "" "0000559723" "00004900" "30" "967" "0" "967" "0" "c.967G>T" "r.(?)" "p.(Val323Leu)" "" "0000559724" "00004900" "30" "1411" "0" "1411" "0" "c.1411C>G" "r.(?)" "p.(Pro471Ala)" "" "0000559728" "00004900" "30" "1610" "0" "1610" "0" "c.1610C>T" "r.(?)" "p.(Ala537Val)" "" "0000559729" "00004900" "30" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Arg541Cys)" "" "0000559730" "00004900" "50" "1631" "0" "1631" "0" "c.1631A>T" "r.(?)" "p.(Glu544Val)" "" "0000559731" "00004900" "30" "3075" "0" "3075" "0" "c.*1434G>A" "r.(=)" "p.(=)" "" "0000616237" "00004900" "30" "1477" "13" "1477" "34" "c.1477+13_1477+34dup" "r.(=)" "p.(=)" "" "0000616238" "00004900" "30" "1631" "0" "1631" "0" "c.1631A>T" "r.(?)" "p.(Glu544Val)" "" "0000623569" "00004900" "50" "1301" "0" "1301" "0" "c.1301A>C" "r.(?)" "p.(Gln434Pro)" "" "0000649435" "00004900" "50" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Gly205Ser)" "" "0000649436" "00004900" "50" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Arg253His)" "" "0000680725" "00004900" "30" "1123" "-4" "1123" "-4" "c.1123-4G>A" "r.spl?" "p.?" "" "0000692198" "00004900" "30" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Ala320Thr)" "" "0000692199" "00004900" "30" "1357" "0" "1357" "0" "c.1357C>T" "r.(?)" "p.(Arg453Trp)" "" "0000692200" "00004900" "50" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Glu468Lys)" "" "0000704532" "00004900" "70" "1078" "0" "1080" "0" "c.1078_1080del" "r.(?)" "p.(Ala360del)" "" "0000704533" "00004900" "90" "1276" "-24" "1276" "-24" "c.1276-24A>G" "r.spl?" "p.?" "" "0000807696" "00004900" "30" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158His)" "" "0000807697" "00004900" "30" "553" "0" "553" "0" "c.553G>C" "r.(?)" "p.(Val185Leu)" "" "0000831176" "00004900" "50" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Pro94Ser)" "" "0000831400" "00004900" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Asn336=)" "" "0000854706" "00004900" "70" "3146" "0" "3146" "0" "c.*1505C>T" "r.(=)" "p.(=)" "" "0000864995" "00004900" "30" "130" "0" "130" "0" "c.130A>C" "r.(?)" "p.(Thr44Pro)" "" "0000864996" "00004900" "30" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Ala62Val)" "" "0000864997" "00004900" "30" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ala135Val)" "" "0000864998" "00004900" "30" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Ala155Val)" "" "0000864999" "00004900" "50" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425Trp)" "" "0000893226" "00004900" "50" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Trp)" "" "0000914711" "00004900" "30" "5010" "0" "5010" "0" "c.*3369C>A" "r.(=)" "p.(=)" "" "0000950763" "00004900" "30" "3841" "0" "3841" "0" "c.*2200C>T" "r.(=)" "p.(=)" "" "0000982179" "00004900" "50" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Trp)" "" "0000982180" "00004900" "30" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(=)" "" "0000982181" "00004900" "30" "934" "-9" "934" "-9" "c.934-9T>C" "r.(=)" "p.(=)" "" "0000982182" "00004900" "50" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Glu325Gly)" "" "0000982183" "00004900" "30" "3768" "0" "3768" "0" "c.*2127C>T" "r.(=)" "p.(=)" "" "0001002725" "00004900" "30" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Pro403Ser)" "" "0001002726" "00004900" "50" "1336" "0" "1337" "0" "c.1336_1337insGCTT" "r.(?)" "p.(Gln446Argfs*12)" "" "0001002727" "00004900" "50" "1338" "0" "1339" "0" "c.1338_1339insAA" "r.(?)" "p.(Arg447Asnfs*6)" "" "0001026791" "00004900" "30" "4938" "0" "4938" "0" "c.*3297G>A" "r.(=)" "p.(=)" "" "0001041454" "00004900" "50" "10" "0" "10" "0" "c.10C>A" "r.(?)" "p.(Arg4Ser)" "" "0001041455" "00004900" "30" "488" "10" "488" "10" "c.488+10G>C" "r.(=)" "p.(=)" "" "0001041456" "00004900" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Val204Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000050626" "0000079606" "0000050626" "0000079697" "0000292746" "0000649435" "0000292747" "0000649436" "0000321621" "0000704532" "0000321621" "0000704533"