### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CANT1) # 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}}" "CANT1" "calcium activated nucleotidase 1" "17" "q25.3" "unknown" "NG_016645.1" "UD_132085386967" "" "http://www.LOVD.nl/CANT1" "" "1" "19721" "124583" "613165" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/CANT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-04-29 00:00:00" "00006" "2016-10-22 15:16:07" "00006" "2025-06-07 14:19:04" ## 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}}" "00024191" "CANT1" "transcript variant 2" "003" "NM_001159772.1" "" "NP_001153244.1" "" "" "" "-439" "3040" "1206" "77005899" "76987798" "00006" "2016-10-22 15:13:53" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00397" "DBQD2" "dysplasia, Desbuquois, type 2 (DBQD-2)" "AR" "615777" "" "" "" "00006" "2014-06-03 13:15:44" "00006" "2021-12-10 21:51:32" "00398" "DBQD1" "dysplasia, Desbuquois, type 1 (DBQD-1)" "AR" "251450" "" "" "Dysplasia, Desbuquois, Kim variant, included." "00006" "2014-06-03 13:17:31" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05541" "DBQD" "dysplasia, Desbuquois (DBQD)" "" "" "" "" "" "00006" "2018-12-25 13:35:59" "" "" "05594" "DTDvariant" "Diastrophic Dysplasia Variant" "" "" "bones (skeleton)" "" "" "01709" "2019-04-18 16:17:50" "01709" "2019-04-18 16:19:14" "06348" "EDM7" "Epiphyseal dysplasia, multiple, 7" "AR" "617719" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CANT1" "00398" "CANT1" "05541" "CANT1" "05594" "CANT1" "06348" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00204626" "" "" "" "1" "" "02979" "" "" "" "" "" "" "0" "" "" "" "" "00204627" "" "" "" "1" "" "02979" "" "" "" "" "" "" "0" "" "" "" "" "00204628" "" "" "" "1" "" "02979" "" "" "" "" "" "" "0" "" "" "" "" "00204629" "" "" "" "1" "" "02979" "" "" "" "" "" "" "0" "" "" "" "" "00204630" "" "" "" "1" "" "02979" "" "" "" "" "" "" "0" "" "" "" "" "00204631" "" "" "" "1" "" "02979" "" "" "" "" "" "" "0" "" "" "" "" "00204632" "" "" "" "1" "" "02979" "" "" "" "" "" "" "0" "" "" "" "" "00204633" "" "" "" "1" "" "02979" "" "" "" "" "" "" "0" "" "" "" "" "00291866" "" "" "" "108" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331340" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "15DG0001" "00331341" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "15DG2387" "00331342" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "16DG0734" "00331343" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "09DG00066, 09DG00019" "00331344" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "13DG1354" "00331345" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "14DG0051" "00427966" "" "" "" "1" "" "01164" "" "prenatal trio-exom after ultrasound abnormalities" "?" "no" "Germany" "" "0" "" "" "" "211748" "00465802" "" "" "" "1" "" "00006" "{PMID:Byrne 2020:31988067}" "2-generation family, 2 affected brothers (deceased), unaffected heterozygous carrier parents" "M" "yes" "Australia" "" "0" "" "" "Turkey" "Fam2Pat2A/2B" "00465846" "" "" "" "1" "" "00006" "{PMID:Ranza 2017:28229453}" "patient, no family history" "" "yes" "Turkey" "5h" "0" "" "" "" "Pat2" "00465847" "" "" "" "1" "" "00006" "{PMID:Ranza 2017:28229453}" "fetus, no family history" "" "yes" "Algeria" "<0d" "0" "" "" "" "Pat3" "00465848" "" "" "" "1" "" "00006" "{PMID:Ranza 2017:28229453}" "patient, family history" "" "yes" "Turkey" "3m" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00204626" "00397" "00204627" "00398" "00204628" "00398" "00204629" "00398" "00204630" "00398" "00204631" "00398" "00204632" "00398" "00204633" "00398" "00291866" "00198" "00331340" "05517" "00331341" "05517" "00331342" "05517" "00331343" "05517" "00331344" "05517" "00331345" "05517" "00427966" "00398" "00465802" "05517" "00465846" "00198" "00465847" "00198" "00465848" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00397, 00398, 01157, 05517, 05541, 05594, 06348 ## Count = 13 "{{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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000152886" "00397" "00204626" "02979" "-" "" "with atypical hand anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000249532" "05517" "00331340" "00000" "Familial, autosomal recessive" "" "Skeletal dysplasia, Macrocephaly at birth, Short stature, Wide anterior fontanel" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000249533" "05517" "00331341" "00000" "Familial, autosomal recessive" "" "Brachydactyly, Acromelia, Bilateral talipes equinovarus, Micrognathia, Narrow palpebral fi Yes" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000249534" "05517" "00331342" "00000" "Familial, autosomal recessive" "" "Skeletal dysplasia, Low-set ears, Abnormality of the pinna, Depressed nasal bridge, ProptNo" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000249535" "05517" "00331343" "00000" "Familial, autosomal recessive" "" "Short long bones, IUGR, Polyhydramnios, Narrow chest" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000249536" "05517" "00331344" "00000" "Familial, autosomal recessive" "" "Severe short stature, Multiple joint dislocation" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000249537" "05517" "00331345" "00000" "Familial, autosomal recessive" "" "Limb undergrowth, Narrow chest, Neonatal respiratory distress, Round face, MicrognathiaNo" "" "" "" "" "" "" "" "" "Dysplasias with multiple joint dislocations" "skeletal dysplasia" "" "0000318912" "00398" "00427966" "01164" "Familial, autosomal recessive" "" "Abnormality of prenatal development or birth, Short long bone, Abnormal fetal skeletal morphology, Skeletal dysplasia, Aplasia/Hypoplasia involving bones of the thorax" "" "" "" "" "" "" "" "" "" "prenatal" "" "0000351244" "05517" "00465802" "00006" "Familial, autosomal recessive" "00y06m" "see paper; ..., Pat2A short long bones, increased nuchal thickness, hydropic, relative macrocephaly, prominent eyes, depressed nasal bridge, small nose, midface hypoplasia, small mouth, short neck, narrowed thorax, prominent abdomen, short extremities, over-riding and flexion contracture fingers, postaxial polydactyly right hand, bilateral talipes equinovarus, shortened long bones with mild bowing and widened metaphyses, medial metaphyseal beaking proximal femora, steep acetabular angle, multiple joint dislocations, 6m-deceased respiratory insufficiency" "" "" "" "" "" "" "" "" "DBQD1" "skeletal dysplasia" "" "0000351295" "00198" "00465846" "00006" "Familial, autosomal recessive" "" "see paper; ..., 5h-deceased; intrauterine growth retadation; short stature; advanced bone age; joint dislocations hips, elbows, knees; hands short hands, supernumerary phalanx; Swedish key appearance, feet malposition; atrial septum defect, small thorax, lung hypoplasia; ; flat face" "" "" "" "" "" "" "" "" "DBQD1" "Desbuquois dysplasia" "" "0000351296" "00198" "00465847" "00006" "Familial, autosomal recessive" "" "see paper; ..., terminated pregnancy; intrauterine growth retadation; short stature; normal bone age; joint dislocations hips, elbows; hands club hands, supernumerary phalanx; Swedish key appearance, club feet; ; ; facial features" "" "" "" "" "" "" "" "" "DBQD1" "Desbuquois dysplasia" "" "0000351297" "00198" "00465848" "00006" "Familial, autosomal recessive" "" "see paper; ..., 3m-deceased; intrauterine growth retadation; short stature; advanced bone age; joint dislocations hips, left knee; hands brachydactyly, stubby conical fingers; Swedish key appearance, pelvic dysplasia, hypoplastic vertebrae, short long bones, right knee contracted; patent ductus arteriosus narrow, small thorax; ; very short neck, depressed nasal bridge, short nose, micrognathia, high arched palate" "" "" "" "" "" "" "" "" "DBQD1" "Desbuquois dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000205655" "00204626" "1" "02979" "02979" "2012-02-08 13:19:27" "" "" "SEQ" "DNA" "" "" "0000205656" "00204627" "1" "02979" "02979" "2012-02-08 13:11:17" "" "" "SEQ" "DNA" "" "" "0000205657" "00204628" "1" "02979" "02979" "2012-02-08 13:15:39" "" "" "SEQ" "DNA" "" "" "0000205658" "00204629" "1" "02979" "02979" "2012-02-08 13:13:22" "" "" "SEQ" "DNA" "" "" "0000205659" "00204630" "1" "02979" "02979" "2012-02-08 13:21:00" "" "" "SEQ" "DNA" "" "" "0000205660" "00204631" "1" "02979" "02979" "2012-02-08 13:05:50" "" "" "SEQ" "DNA" "" "" "0000205661" "00204632" "1" "02979" "02979" "2012-02-08 13:17:50" "" "" "SEQ" "DNA" "" "" "0000205662" "00204633" "1" "02979" "02979" "2012-02-08 13:08:34" "" "" "SEQ" "DNA" "" "" "0000293034" "00291866" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332559" "00331340" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332560" "00331341" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332561" "00331342" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332562" "00331343" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332563" "00331344" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332564" "00331345" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429379" "00427966" "1" "01164" "01164" "2022-12-19 12:01:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000467453" "00465802" "1" "00006" "00006" "2025-06-05 17:13:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000467497" "00465846" "1" "00006" "00006" "2025-06-07 14:19:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467498" "00465847" "1" "00006" "00006" "2025-06-07 14:19:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467499" "00465848" "1" "00006" "00006" "2025-06-07 14:19:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000205655" "CANT1" "0000205656" "CANT1" "0000205657" "CANT1" "0000205658" "CANT1" "0000205659" "CANT1" "0000205660" "CANT1" "0000205661" "CANT1" "0000205662" "CANT1" "0000332559" "CANT1" "0000332560" "CANT1" "0000332561" "CANT1" "0000332562" "CANT1" "0000332563" "CANT1" "0000332564" "CANT1" "0000429379" "CANT1" ## 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 = 48 "{{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}}" "0000013704" "3" "30" "17" "77005693" "77005693" "subst" "0" "00037" "CANT1_000009" "g.77005693T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.79009611T>C" "" "likely benign" "" "0000248702" "0" "10" "17" "76993546" "76993546" "subst" "0.362317" "02325" "CANT1_000013" "g.76993546A>G" "" "" "" "CANT1(NM_138793.4):c.159T>C (p.A53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78997464A>G" "" "benign" "" "0000266478" "0" "10" "17" "76988785" "76988785" "subst" "0.112786" "02325" "CANT1_000010" "g.76988785G>A" "" "" "" "CANT1(NM_138793.4):c.*847C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78992703G>A" "" "benign" "" "0000269704" "0" "90" "17" "76989895" "76989895" "subst" "0" "02326" "CANT1_000011" "g.76989895T>A" "" "" "" "CANT1(NM_138793.4):c.943A>T (p.K315*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78993813T>A" "" "pathogenic" "" "0000272592" "0" "90" "17" "76993389" "76993389" "subst" "2.03067E-5" "01943" "CANT1_000012" "g.76993389G>A" "" "" "" "CANT1(NM_138793.3):c.316C>T (p.R106*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78997307G>A" "" "pathogenic" "" "0000435061" "3" "55" "17" "77005745" "77005745" "subst" "0" "02979" "CANT1_000008" "g.77005745C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.79009663C>T" "" "VUS" "" "0000435062" "11" "55" "17" "76993605" "76993605" "delins" "0" "02979" "CANT1_000003" "g.76993605delinsAA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.78997523delinsAA" "" "VUS" "" "0000435063" "21" "55" "17" "76993605" "76993605" "delins" "0" "02979" "CANT1_000003" "g.76993605delinsAA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.78997523delinsAA" "" "VUS" "" "0000435064" "11" "55" "17" "76993427" "76993428" "del" "6.49926E-5" "02979" "CANT1_000006" "g.76993427_76993428del" "" "" "" "277_278delCT" "" "Unknown" "" "" "0" "" "" "g.78997345_78997346del" "" "VUS" "" "0000435065" "21" "55" "17" "76993349" "76993349" "del" "0" "02979" "CANT1_000004" "g.76993349del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.78997267del" "" "VUS" "" "0000435066" "3" "55" "17" "76993175" "76993176" "del" "0" "02979" "CANT1_000005" "g.76993175_76993176del" "" "" "" "531_532delCT" "" "Unknown" "" "" "0" "" "" "g.78997093_78997094del" "" "VUS" "" "0000435067" "3" "55" "17" "76993175" "76993176" "del" "0" "02979" "CANT1_000005" "g.76993175_76993176del" "" "" "" "531_532delCT" "" "Unknown" "" "" "0" "" "" "g.78997093_78997094del" "" "VUS" "" "0000435068" "3" "55" "17" "76989939" "76989939" "subst" "0" "02979" "CANT1_000001" "g.76989939C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.78993857C>T" "" "VUS" "" "0000435069" "3" "55" "17" "76989929" "76989929" "subst" "0" "02979" "CANT1_000007" "g.76989929G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.78993847G>C" "" "VUS" "" "0000435070" "3" "55" "17" "76989717" "76989717" "subst" "0" "02979" "CANT1_000002" "g.76989717A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.78993635A>T" "" "VUS" "" "0000473816" "0" "70" "17" "76989790" "76989790" "del" "4.06253E-6" "01709" "CANT1_000014" "g.76989790del" "" "" "" "" "Desbuquois Dysplasia" "Unknown" "yes" "rs1294064847" "0" "" "" "g.78993708del" "" "pathogenic (recessive)" "ACMG" "0000563311" "0" "50" "17" "76993443" "76993443" "subst" "8.12777E-6" "01943" "CANT1_000015" "g.76993443T>C" "" "" "" "CANT1(NM_138793.3):c.262A>G (p.N88D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78997361T>C" "" "VUS" "" "0000563312" "0" "30" "17" "76993602" "76993602" "subst" "0.000102824" "01943" "CANT1_000016" "g.76993602C>T" "" "" "" "CANT1(NM_138793.3):c.103G>A (p.A35T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78997520C>T" "" "likely benign" "" "0000616862" "0" "30" "17" "76989715" "76989715" "subst" "0.00260698" "01943" "CANT1_000017" "g.76989715T>A" "" "" "" "CANT1(NM_138793.3):c.1123A>T (p.M375L, p.(Met375Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78993633T>A" "" "likely benign" "" "0000616863" "0" "30" "17" "76989856" "76989856" "subst" "6.127E-5" "01943" "CANT1_000018" "g.76989856C>T" "" "" "" "CANT1(NM_138793.3):c.982G>A (p.G328S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78993774C>T" "" "likely benign" "" "0000616864" "0" "90" "17" "76989940" "76989944" "dup" "0" "01943" "CANT1_000019" "g.76989940_76989944dup" "" "" "" "CANT1(NM_138793.3):c.902_906dupGCGCC (p.S303Afs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78993858_78993862dup" "" "pathogenic" "" "0000616865" "0" "50" "17" "76991127" "76991127" "subst" "0" "01943" "CANT1_000020" "g.76991127G>A" "" "" "" "CANT1(NM_138793.3):c.808C>T (p.R270W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78995045G>A" "" "VUS" "" "0000649723" "1" "30" "17" "76988803" "76988803" "subst" "0.0231459" "03575" "CANT1_000021" "g.76988803C>T" "108/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "108 heterozygous; {DB:CLININrs115856545}" "Germline" "" "rs115856545" "0" "" "" "g.78992721C>T" "" "likely benign" "" "0000658278" "0" "30" "17" "76991167" "76991167" "subst" "1.67668E-5" "01943" "CANT1_000022" "g.76991167G>A" "" "" "" "CANT1(NM_138793.3):c.768C>T (p.S256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78995085G>A" "" "likely benign" "" "0000658279" "0" "50" "17" "76991268" "76991268" "subst" "7.32535E-5" "01943" "CANT1_000023" "g.76991268G>A" "" "" "" "CANT1(NM_138793.3):c.667C>T (p.R223C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78995186G>A" "" "VUS" "" "0000658280" "0" "30" "17" "76993146" "76993146" "subst" "0.000121822" "01943" "CANT1_000024" "g.76993146C>T" "" "" "" "CANT1(NM_138793.3):c.559G>A (p.V187I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78997064C>T" "" "likely benign" "" "0000658281" "0" "30" "17" "76993601" "76993601" "subst" "3.58027E-5" "01943" "CANT1_000025" "g.76993601G>A" "" "" "" "CANT1(NM_138793.3):c.104C>T (p.A35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78997519G>A" "" "likely benign" "" "0000681047" "0" "50" "17" "76993649" "76993649" "subst" "0.00112906" "01943" "CANT1_000026" "g.76993649C>T" "" "" "" "CANT1(NM_138793.3):c.56G>A (p.R19Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692490" "0" "90" "17" "76993330" "76993330" "subst" "0" "01943" "CANT1_000027" "g.76993330C>G" "" "" "" "CANT1(NM_138793.3):c.375G>C (p.W125C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726724" "0" "50" "17" "76991181" "76991181" "subst" "0" "01943" "CANT1_000028" "g.76991181C>A" "" "" "" "CANT1(NM_138793.3):c.754G>T (p.G252C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726725" "0" "30" "17" "76993517" "76993517" "subst" "2.53396E-5" "01943" "CANT1_000029" "g.76993517C>T" "" "" "" "CANT1(NM_138793.3):c.188G>A (p.R63H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729841" "3" "90" "17" "76989940" "76989944" "dup" "0" "00000" "CANT1_000019" "g.76989940_76989944dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21)" "" "Germline" "" "" "0" "" "" "g.78993858_78993862dup" "" "pathogenic (recessive)" "" "0000729842" "3" "90" "17" "76989940" "76989944" "dup" "0" "00000" "CANT1_000019" "g.76989940_76989944dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21)" "" "Germline" "" "" "0" "" "" "g.78993858_78993862dup" "" "pathogenic (recessive)" "" "0000729843" "3" "90" "17" "76989940" "76989944" "dup" "0" "00000" "CANT1_000019" "g.76989940_76989944dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21)" "" "Germline" "" "" "0" "" "" "g.78993858_78993862dup" "" "pathogenic (recessive)" "" "0000729844" "3" "90" "17" "76989940" "76989944" "dup" "0" "00000" "CANT1_000019" "g.76989940_76989944dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21)" "" "Germline" "" "" "0" "" "" "g.78993858_78993862dup" "" "pathogenic (recessive)" "" "0000729845" "3" "90" "17" "76989940" "76989944" "dup" "0" "00000" "CANT1_000019" "g.76989940_76989944dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21)" "" "Germline" "" "" "0" "" "" "g.78993858_78993862dup" "" "pathogenic (recessive)" "" "0000729846" "3" "90" "17" "76989940" "76989944" "dup" "0" "00000" "CANT1_000019" "g.76989940_76989944dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_138793.3:c.902_906dupGCGCC:p.(Ser303Alafs*21)" "" "Germline" "" "" "0" "" "" "g.78993858_78993862dup" "" "pathogenic (recessive)" "" "0000808298" "0" "30" "17" "76989871" "76989871" "subst" "0.00264993" "01804" "CANT1_000030" "g.76989871C>T" "" "" "" "CANT1(NM_001159772.1):c.967G>A (p.(Ala323Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908851" "11" "70" "17" "76993500" "76993500" "dup" "0" "01164" "CANT1_000032" "g.76993500dup" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "-" "" "0" "" "" "g.78997418dup" "" "likely pathogenic (recessive)" "ACMG" "0000908852" "21" "70" "17" "76989976" "76989976" "subst" "0" "01164" "CANT1_000031" "g.76989976A>G" "" "" "" "" "ACMG: PP3_STR, PM3, PM2_SUP" "Germline" "-" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000926651" "0" "90" "17" "76993427" "76993428" "del" "6.49926E-5" "01804" "CANT1_000006" "g.76993427_76993428del" "" "" "" "CANT1(NM_001159772.1):c.277_278del (p.(Leu93Valfs*89))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001003725" "0" "30" "17" "76989715" "76989715" "subst" "0.00260698" "01804" "CANT1_000017" "g.76989715T>A" "" "" "" "CANT1(NM_138793.3):c.1123A>T (p.M375L, p.(Met375Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003726" "0" "30" "17" "76993506" "76993506" "subst" "0" "01804" "CANT1_000033" "g.76993506C>G" "" "" "" "CANT1(NM_138793.3):c.199G>C (p.(Gly67Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003727" "0" "30" "17" "76993517" "76993517" "subst" "0" "01804" "CANT1_000034" "g.76993517C>G" "" "" "" "CANT1(NM_138793.3):c.188G>C (p.(Arg63Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045257" "3" "90" "17" "76991292" "76991292" "subst" "0" "00006" "CANT1_000035" "g.76991292C>T" "" "{PMID:Byrne 2020:31988067}" "" "NM_138793.3:c.643G>A" "" "Germline" "yes" "" "0" "" "" "g.78995210C>T" "" "pathogenic (recessive)" "" "0001045309" "3" "90" "17" "76989895" "76989895" "subst" "0" "00006" "CANT1_000011" "g.76989895T>A" "" "{PMID:Ranza 2017:28229453}" "" "" "" "Germline" "" "" "0" "" "" "g.78993813T>A" "" "pathogenic (recessive)" "" "0001045310" "3" "90" "17" "76989938" "76989950" "del" "0" "00006" "CANT1_000036" "g.76989938_76989950del" "" "{PMID:Ranza 2017:28229453}" "" "899_901del" "" "Germline" "" "" "0" "" "" "g.78993856_78993868del" "" "pathogenic (recessive)" "" "0001045311" "3" "90" "17" "76989940" "76989944" "dup" "0" "00006" "CANT1_000019" "g.76989940_76989944dup" "" "{PMID:Ranza 2017:28229453}" "" "" "" "Germline" "" "" "0" "" "" "g.78993858_78993862dup" "" "pathogenic (recessive)" "" ## 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 CANT1 ## Count = 48 "{{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}}" "0000013704" "00024191" "30" "-286" "53" "-286" "53" "c.-286+53A>G" "r.(?)" "p.(=)" "1i" "0000248702" "00024191" "10" "159" "0" "159" "0" "c.159T>C" "r.(?)" "p.(Ala53=)" "" "0000266478" "00024191" "10" "2053" "0" "2053" "0" "c.*847C>T" "r.(=)" "p.(=)" "" "0000269704" "00024191" "90" "943" "0" "943" "0" "c.943A>T" "r.(?)" "p.(Lys315Ter)" "" "0000272592" "00024191" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Ter)" "" "0000435061" "00024191" "55" "-286" "1" "-286" "1" "c.-286+1G>A" "r.spl" "p.?" "1i" "0000435062" "00024191" "55" "100" "0" "100" "0" "c.100delinsTT" "r.(?)" "p.(Ala34Phefs*56)" "4" "0000435063" "00024191" "55" "100" "0" "100" "0" "c.100delinsTT" "r.(?)" "p.(Ala34Phefs*56)" "4" "0000435064" "00024191" "55" "277" "0" "278" "0" "c.277_278del" "r.(?)" "p.(Leu93Valfs*89)" "4" "0000435065" "00024191" "55" "358" "0" "358" "0" "c.358del" "r.(?)" "p.(Gln120Lysfs*10)" "4" "0000435066" "00024191" "55" "531" "0" "532" "0" "c.531_532del" "r.(?)" "p.(Tyr178Leufs*4)" "4" "0000435067" "00024191" "55" "531" "0" "532" "0" "c.531_532del" "r.(?)" "p.(Tyr178Leufs*4)" "4" "0000435068" "00024191" "55" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300His)" "6" "0000435069" "00024191" "55" "909" "0" "909" "0" "c.909C>G" "r.(?)" "p.(Ser303Arg)" "6" "0000435070" "00024191" "55" "1121" "0" "1121" "0" "c.1121T>A" "r.(?)" "p.(Ile374Asn)" "6" "0000473816" "00024191" "70" "1048" "0" "1048" "0" "c.1048del" "r.(?)" "p.(Ile350Serfs*44)" "3" "0000563311" "00024191" "50" "262" "0" "262" "0" "c.262A>G" "r.(?)" "p.(Asn88Asp)" "" "0000563312" "00024191" "30" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Ala35Thr)" "" "0000616862" "00024191" "30" "1123" "0" "1123" "0" "c.1123A>T" "r.(?)" "p.(Met375Leu)" "" "0000616863" "00024191" "30" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "" "0000616864" "00024191" "90" "902" "0" "906" "0" "c.902_906dup" "r.(?)" "p.(Ser303AlafsTer21)" "" "0000616865" "00024191" "50" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Trp)" "" "0000649723" "00024191" "30" "2035" "0" "2035" "0" "c.*829G>A" "r.(=)" "p.(=)" "" "0000658278" "00024191" "30" "768" "0" "768" "0" "c.768C>T" "r.(?)" "p.(Ser256=)" "" "0000658279" "00024191" "50" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Cys)" "" "0000658280" "00024191" "30" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Val187Ile)" "" "0000658281" "00024191" "30" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Ala35Val)" "" "0000681047" "00024191" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19Gln)" "" "0000692490" "00024191" "90" "375" "0" "375" "0" "c.375G>C" "r.(?)" "p.(Trp125Cys)" "" "0000726724" "00024191" "50" "754" "0" "754" "0" "c.754G>T" "r.(?)" "p.(Gly252Cys)" "" "0000726725" "00024191" "30" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "" "0000729841" "00024191" "90" "894" "0" "898" "0" "c.894_898dup" "r.(?)" "p.(Ser303Alafs*21)" "" "0000729842" "00024191" "90" "894" "0" "898" "0" "c.894_898dup" "r.(?)" "p.(Ser303Alafs*21)" "" "0000729843" "00024191" "90" "894" "0" "898" "0" "c.894_898dup" "r.(?)" "p.(Ser303Alafs*21)" "" "0000729844" "00024191" "90" "894" "0" "898" "0" "c.894_898dup" "r.(?)" "p.(Ser303Alafs*21)" "" "0000729845" "00024191" "90" "894" "0" "898" "0" "c.894_898dup" "r.(?)" "p.(Ser303Alafs*21)" "" "0000729846" "00024191" "90" "894" "0" "898" "0" "c.894_898dup" "r.(?)" "p.(Ser303Alafs*21)" "" "0000808298" "00024191" "30" "967" "0" "967" "0" "c.967G>A" "r.(?)" "p.(Ala323Thr)" "" "0000908851" "00024191" "70" "210" "0" "210" "0" "c.210dup" "r.(?)" "p.(Thr71Hisfs*19)" "" "0000908852" "00024191" "70" "862" "0" "862" "0" "c.862T>C" "r.(?)" "p.(Trp288Arg)" "" "0000926651" "00024191" "90" "277" "0" "278" "0" "c.277_278del" "r.(?)" "p.(Leu93Valfs*89)" "" "0001003725" "00024191" "30" "1123" "0" "1123" "0" "c.1123A>T" "r.(?)" "p.(Met375Leu)" "" "0001003726" "00024191" "30" "199" "0" "199" "0" "c.199G>C" "r.(?)" "p.(Gly67Arg)" "" "0001003727" "00024191" "30" "188" "0" "188" "0" "c.188G>C" "r.(?)" "p.(Arg63Pro)" "" "0001045257" "00024191" "90" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Glu215Lys)" "" "0001045309" "00024191" "90" "943" "0" "943" "0" "c.943A>T" "r.(?)" "p.(Lys315Ter)" "" "0001045310" "00024191" "90" "889" "0" "901" "0" "c.889_901del" "r.(?)" "p.(Phe297AlafsTer21)" "" "0001045311" "00024191" "90" "902" "0" "906" "0" "c.902_906dup" "r.(?)" "p.(Ser303AlafsTer21)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013704" "0000205655" "0000435061" "0000205656" "0000435062" "0000205656" "0000435065" "0000205657" "0000435063" "0000205657" "0000435064" "0000205658" "0000435066" "0000205659" "0000435067" "0000205660" "0000435068" "0000205661" "0000435069" "0000205662" "0000435070" "0000293034" "0000649723" "0000332559" "0000729841" "0000332560" "0000729842" "0000332561" "0000729843" "0000332562" "0000729844" "0000332563" "0000729845" "0000332564" "0000729846" "0000429379" "0000908851" "0000429379" "0000908852" "0000467453" "0001045257" "0000467497" "0001045309" "0000467498" "0001045310" "0000467499" "0001045311"