### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CEP104) # 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}}" "CEP104" "centrosomal protein 104kDa" "1" "p36.32" "unknown" "NC_000001.10" "UD_132319012181" "" "https://www.LOVD.nl/CEP104" "" "1" "24866" "9731" "616690" "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/CEP104_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-29 14:34:19" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00004993" "CEP104" "centrosomal protein 104kDa" "001" "NM_014704.3" "" "NP_055519.1" "" "" "" "-359" "6099" "2778" "3773797" "3728645" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00128" "CF" "cystic fibrosis (CF)" "AR" "219700" "" "" "" "00006" "2013-05-14 09:22:43" "00006" "2021-12-10 21:51:32" "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" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05924" "JBTS25" "Joubert syndrome, type 25 (JBTS25)" "AR" "616781" "" "" "" "00006" "2021-04-29 14:33:58" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CEP104" "05109" "CEP104" "05924" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00050250" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00363559" "" "" "" "1" "" "00000" "{PMID:Srour 2015:26477546}" "" "F" "" "Canada" "" "0" "" "" "French-Canadian" "Fam618Pat1763,618" "00363560" "" "" "" "1" "" "00000" "{PMID:Srour 2015:26477546}" "" "F" "" "Canada" "" "0" "" "" "French-Canadian" "FamGeneDx1PatGeneDx01" "00363561" "" "" "" "1" "" "00000" "{PMID:Srour 2015:26477546}" "" "M" "" "Canada" "" "0" "" "" "French-Canadian" "FamA_IPat842629" "00387835" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 or more affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8800138" "00387902" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Lur" "M9100012" "00418597" "" "" "" "3" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iraq" "" "0" "" "" "" "Fam3PatIV1" "00441570" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "B00APG4" "00462324" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems; 2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat9" "00466456" "" "" "" "1" "" "00006" "{PMID:Takata 2014:24853937}, {DOI:Takata 2014:10.1016/j.neuron.2014.04.043}" "2-generation family, 1 affected, unaffected non-carrier paren" "" "" "United States" "" "0" "" "" "white" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00050250" "00198" "00363559" "05109" "00363560" "05109" "00363561" "05109" "00387835" "00139" "00387902" "00139" "00418597" "00128" "00441570" "05086" "00462324" "00332" "00466456" "00212" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00128, 00139, 00198, 00212, 00332, 05086, 05109, 05924 ## Count = 10 "{{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}}" "0000036862" "00198" "00050250" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000258909" "05109" "00363559" "00000" "Familial, autosomal recessive" "2y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000258910" "05109" "00363560" "00000" "Familial, autosomal recessive" "2y6m" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000258911" "05109" "00363561" "00000" "Familial, autosomal recessive" "3y6m" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281403" "00139" "00387835" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281470" "00139" "00387902" "00006" "Familial, autosomal recessive" "" "non-syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000309933" "00128" "00418597" "00006" "Familial, autosomal recessive" "" "failure to thrive, weight, height and ofc below 5th percentile; no dysmorphism; mild motor delay; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; mild respiratory tract infections; no immunological abnormalities; chronic diarrhea, episodic vomiting, lethargy; no cardiovascular abnormalities" "2d" "" "" "" "" "" "" "" "" "type 1 distal, renal tubular acidosis, congenital enteropathies, chloride losing diarrhea, primary immunodeficiency" "" "0000330998" "05086" "00441570" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "simplex autosomal recessive hearing loss" "" "0000349823" "00332" "00462324" "00006" "Familial, autosomal recessive" "" "Joubert syndrome" "" "" "" "" "" "" "" "" "JBTS25" "primary ciliary dyskinesia" "" "0000351820" "00212" "00466456" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "schizoaffective disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050195" "00050250" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000364787" "00363559" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364788" "00363560" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364789" "00363561" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389066" "00387835" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389133" "00387902" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000419892" "00418597" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443056" "00441570" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000463956" "00462324" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000468119" "00466456" "1" "00006" "00006" "2025-09-05 13:14:34" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000050195" "CEP104" "0000364787" "CEP104" "0000364788" "CEP104" "0000364789" "CEP104" "0000389066" "CEP104" "0000389133" "CEP104" ## 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 = 69 "{{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}}" "0000079147" "3" "90" "1" "3753239" "3753239" "subst" "0" "00006" "CEP104_000001" "g.3753239G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.3836675G>C" "" "pathogenic" "" "0000273136" "0" "50" "1" "3742401" "3742401" "del" "0" "01943" "CEP104_000004" "g.3742401del" "" "" "" "CEP104(NM_014704.3):c.2286delA (p.E762Dfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3825837del" "" "VUS" "" "0000273137" "0" "30" "1" "3739732" "3739732" "subst" "0.000251793" "01943" "CEP104_000003" "g.3739732C>T" "" "" "" "CEP104(NM_014704.3):c.2571+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3823168C>T" "" "likely benign" "" "0000273138" "0" "30" "1" "3732862" "3732862" "subst" "0.000520298" "01943" "CEP104_000002" "g.3732862C>A" "" "" "" "CEP104(NM_014704.3):c.2644G>T (p.A882S, p.(Ala882Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3816298C>A" "" "likely benign" "" "0000273139" "0" "10" "1" "3761547" "3761547" "subst" "0.00121425" "01943" "CEP104_000006" "g.3761547C>A" "" "" "" "CEP104(NM_014704.3):c.490G>T (p.A164S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3844983C>A" "" "benign" "" "0000273140" "0" "50" "1" "3768890" "3768890" "subst" "0" "01943" "CEP104_000007" "g.3768890C>G" "" "" "" "CEP104(NM_014704.3):c.82G>C (p.A28P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3852326C>G" "" "VUS" "" "0000320481" "0" "50" "1" "3747684" "3747684" "subst" "0" "01804" "CEP104_000005" "g.3747684T>C" "" "" "" "CEP104(NM_014704.3):c.1762A>G (p.(Met588Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3831120T>C" "" "VUS" "" "0000507337" "0" "30" "1" "3740009" "3740009" "subst" "4.46668E-5" "01804" "CEP104_000009" "g.3740009T>C" "" "" "" "CEP104(NM_014704.3):c.2482A>G (p.(Ile828Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3823445T>C" "" "likely benign" "" "0000507338" "0" "50" "1" "3740104" "3740104" "subst" "8.1217E-6" "01804" "CEP104_000010" "g.3740104G>A" "" "" "" "CEP104(NM_014704.3):c.2387C>T (p.(Thr796Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3823540G>A" "" "VUS" "" "0000507339" "0" "30" "1" "3742957" "3742957" "subst" "0" "01804" "CEP104_000011" "g.3742957G>C" "" "" "" "CEP104(NM_014704.3):c.2232C>G (p.(Ile744Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3826393G>C" "" "likely benign" "" "0000507341" "0" "30" "1" "3746432" "3746432" "subst" "0.00278962" "01804" "CEP104_000013" "g.3746432G>A" "" "" "" "CEP104(NM_014704.3):c.1966C>T (p.R656C, p.(Arg656Cys)), CEP104(NM_014704.4):c.1966C>T (p.R656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3829868G>A" "" "likely benign" "" "0000507342" "0" "30" "1" "3746432" "3746432" "subst" "0.00278962" "02325" "CEP104_000013" "g.3746432G>A" "" "" "" "CEP104(NM_014704.3):c.1966C>T (p.R656C, p.(Arg656Cys)), CEP104(NM_014704.4):c.1966C>T (p.R656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3829868G>A" "" "likely benign" "" "0000507343" "0" "30" "1" "3753054" "3753054" "subst" "0" "01804" "CEP104_000014" "g.3753054T>C" "" "" "" "CEP104(NM_014704.3):c.1317+5A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3836490T>C" "" "likely benign" "" "0000507344" "0" "30" "1" "3753057" "3753063" "del" "0.0187845" "01804" "CEP104_000015" "g.3753057_3753063del" "" "" "" "CEP104(NM_014704.3):c.1313_1317+2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3836493_3836499del" "" "likely benign" "" "0000507345" "0" "30" "1" "3753067" "3753067" "subst" "0" "01804" "CEP104_000016" "g.3753067C>T" "" "" "" "CEP104(NM_014704.3):c.1309G>A (p.(Glu437Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3836503C>T" "" "likely benign" "" "0000507347" "0" "30" "1" "3753207" "3753207" "subst" "0.00227171" "01943" "CEP104_000018" "g.3753207T>C" "" "" "" "CEP104(NM_014704.3):c.1169A>G (p.H390R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3836643T>C" "" "likely benign" "" "0000507349" "0" "50" "1" "3756281" "3756281" "subst" "0.000284336" "01804" "CEP104_000020" "g.3756281T>C" "" "" "" "CEP104(NM_014704.3):c.626A>G (p.(Glu209Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3839717T>C" "" "VUS" "" "0000507350" "0" "30" "1" "3756338" "3756338" "subst" "0" "01804" "CEP104_000021" "g.3756338T>C" "" "" "" "CEP104(NM_014704.3):c.569A>G (p.(Lys190Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3839774T>C" "" "likely benign" "" "0000507351" "0" "30" "1" "3761487" "3761487" "subst" "0.000284264" "01804" "CEP104_000022" "g.3761487C>G" "" "" "" "CEP104(NM_014704.3):c.550G>C (p.(Glu184Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3844923C>G" "" "likely benign" "" "0000654023" "0" "30" "1" "3732008" "3732008" "subst" "0.00106689" "01943" "CEP104_000008" "g.3732008G>A" "" "" "" "CEP104(NM_014704.3):c.2736C>T (p.G912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3815444G>A" "" "likely benign" "" "0000654024" "0" "30" "1" "3745857" "3745857" "subst" "0.00109256" "01943" "CEP104_000012" "g.3745857T>C" "" "" "" "CEP104(NM_014704.3):c.2124A>G (p.A708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3829293T>C" "" "likely benign" "" "0000688159" "0" "50" "1" "3732885" "3732885" "subst" "0.000335592" "01943" "CEP104_000024" "g.3732885C>T" "" "" "" "CEP104(NM_014704.3):c.2621G>A (p.R874H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688160" "0" "30" "1" "3746514" "3746514" "subst" "0.00438572" "01943" "CEP104_000025" "g.3746514C>A" "" "" "" "CEP104(NM_014704.3):c.1884G>T (p.T628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688161" "0" "50" "1" "3761857" "3761857" "subst" "0" "01943" "CEP104_000026" "g.3761857T>C" "" "" "" "CEP104(NM_014704.3):c.485A>G (p.N162S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717454" "0" "30" "1" "3732923" "3732923" "subst" "0" "01943" "CEP104_000027" "g.3732923A>G" "" "" "" "CEP104(NM_014704.3):c.2583T>C (p.A861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717455" "0" "30" "1" "3742314" "3742314" "subst" "4.8771E-5" "01943" "CEP104_000028" "g.3742314G>A" "" "" "" "CEP104(NM_014704.3):c.2364+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717456" "0" "50" "1" "3742368" "3742368" "subst" "4.06072E-6" "01943" "CEP104_000029" "g.3742368T>A" "" "" "" "CEP104(NM_014704.3):c.2318A>T (p.Y773F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717457" "0" "30" "1" "3746432" "3746432" "subst" "0.00278962" "01943" "CEP104_000013" "g.3746432G>A" "" "" "" "CEP104(NM_014704.3):c.1966C>T (p.R656C, p.(Arg656Cys)), CEP104(NM_014704.4):c.1966C>T (p.R656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717458" "0" "90" "1" "3753924" "3753927" "del" "0" "02329" "CEP104_000019" "g.3753924_3753927del" "" "" "" "CEP104(NM_014704.4):c.1051_1054delACTA (p.T351Ffs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717459" "0" "30" "1" "3761855" "3761855" "subst" "3.28669E-5" "01943" "CEP104_000030" "g.3761855T>G" "" "" "" "CEP104(NM_014704.3):c.487A>C (p.T163P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717460" "0" "50" "1" "3764134" "3764134" "subst" "5.6918E-5" "02329" "CEP104_000023" "g.3764134G>A" "" "" "" "CEP104(NM_014704.4):c.331C>T (p.R111W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765694" "3" "90" "1" "3756170" "3756170" "subst" "0" "00000" "CEP104_000033" "g.3756170A>G" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline" "" "" "0" "" "" "g.3839606A>G" "" "pathogenic (recessive)" "" "0000765695" "21" "90" "1" "3761541" "3761541" "subst" "1.62431E-5" "00000" "CEP104_000034" "g.3761541G>A" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline" "" "rs374574638" "0" "" "" "g.3844977G>A" "" "pathogenic (recessive)" "" "0000765696" "3" "90" "1" "3751645" "3751646" "ins" "0" "00000" "CEP104_000032" "g.3751645_3751646insA" "" "{PMID:Srour 2015:26477546}" "" "" "" "Germline" "" "" "0" "" "" "g.3835081_3835082insA" "" "pathogenic (recessive)" "" "0000765735" "0" "90" "1" "3732936" "3732936" "subst" "0" "00000" "CEP104_000031" "g.3732936T>C" "" "{PMID:Srour 2015:26477546}" "" "" "" "De novo" "" "" "0" "" "" "g.3816372T>C" "" "pathogenic (recessive)" "" "0000799335" "0" "30" "1" "3751495" "3751495" "subst" "0" "01943" "CEP104_000035" "g.3751495C>T" "" "" "" "CEP104(NM_014704.3):c.1479G>A (p.V493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799336" "0" "50" "1" "3751634" "3751634" "subst" "0.000455733" "01943" "CEP104_000036" "g.3751634G>A" "" "" "" "CEP104(NM_014704.3):c.1340C>T (p.T447M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817859" "3" "90" "1" "3742330" "3742331" "ins" "0" "00006" "CEP104_000037" "g.3742330_3742331insAA" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.3825766_3825767insAA" "" "pathogenic (recessive)" "ACMG" "0000817926" "3" "90" "1" "3746500" "3746500" "dup" "0" "00006" "CEP104_000038" "g.3746500dup" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.3829936dup" "" "pathogenic (recessive)" "ACMG" "0000848718" "0" "50" "1" "3746444" "3746444" "subst" "1.21818E-5" "01943" "CEP104_000039" "g.3746444C>T" "" "" "" "CEP104(NM_014704.3):c.1954G>A (p.D652N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848719" "0" "50" "1" "3756324" "3756324" "subst" "4.54455E-5" "01943" "CEP104_000042" "g.3756324A>C" "" "" "" "CEP104(NM_014704.3):c.583T>G (p.S195A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857475" "0" "30" "1" "3732008" "3732008" "subst" "0.00106689" "02326" "CEP104_000008" "g.3732008G>A" "" "" "" "CEP104(NM_014704.3):c.2736C>T (p.G912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857476" "0" "10" "1" "3746514" "3746514" "subst" "0.00438572" "02326" "CEP104_000025" "g.3746514C>A" "" "" "" "CEP104(NM_014704.3):c.1884G>T (p.T628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857477" "0" "50" "1" "3751489" "3751489" "subst" "0.000122365" "01943" "CEP104_000040" "g.3751489G>A" "" "" "" "CEP104(NM_014704.3):c.1485C>T (p.S495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857478" "0" "30" "1" "3751522" "3751522" "subst" "1.2925E-5" "01943" "CEP104_000041" "g.3751522G>A" "" "" "" "CEP104(NM_014704.3):c.1452C>T (p.L484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857479" "0" "10" "1" "3753207" "3753207" "subst" "0.00227171" "02326" "CEP104_000018" "g.3753207T>C" "" "" "" "CEP104(NM_014704.3):c.1169A>G (p.H390R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000880151" "3" "50" "1" "3732033" "3732033" "subst" "0" "00006" "CEP104_000043" "g.3732033C>A" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "NM_014704.3:c.2711G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000883434" "0" "30" "1" "3732828" "3732828" "subst" "0" "02326" "CEP104_000044" "g.3732828C>T" "" "" "" "CEP104(NM_014704.3):c.2662+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883435" "0" "30" "1" "3739750" "3739750" "subst" "0" "02326" "CEP104_000045" "g.3739750G>C" "" "" "" "CEP104(NM_014704.3):c.2559C>G (p.S853R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883436" "0" "30" "1" "3745857" "3745857" "subst" "0.00109256" "02326" "CEP104_000012" "g.3745857T>C" "" "" "" "CEP104(NM_014704.3):c.2124A>G (p.A708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883437" "0" "30" "1" "3753045" "3753046" "ins" "0" "02326" "CEP104_000046" "g.3753045_3753046insGTT" "" "" "" "CEP104(NM_014704.3):c.1317+15_1317+16insCAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883438" "0" "30" "1" "3753892" "3753892" "subst" "0.00123643" "02326" "CEP104_000047" "g.3753892C>T" "" "" "" "CEP104(NM_014704.3):c.1083G>A (p.P361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883439" "0" "10" "1" "3761547" "3761547" "subst" "0.00121425" "02326" "CEP104_000006" "g.3761547C>A" "" "" "" "CEP104(NM_014704.3):c.490G>T (p.A164S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883440" "0" "30" "1" "3765282" "3765282" "subst" "0" "02326" "CEP104_000048" "g.3765282C>A" "" "" "" "CEP104(NM_014704.3):c.177G>T (p.L59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911070" "0" "10" "1" "3739740" "3739740" "subst" "0.00191674" "02326" "CEP104_000049" "g.3739740C>T" "" "" "" "CEP104(NM_014704.3):c.2569G>A (p.E857K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000944453" "0" "90" "1" "3761889" "3761889" "subst" "3.26835E-5" "00006" "CEP104_000050" "g.3761889A>C" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.3845325A>C" "" "VUS" "" "0000973926" "0" "30" "1" "3740136" "3740136" "subst" "0.000211279" "01804" "CEP104_000051" "g.3740136G>A" "" "" "" "CEP104(NM_014704.4):c.2365-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973927" "0" "50" "1" "3764068" "3764068" "subst" "1.24003E-5" "01804" "CEP104_000052" "g.3764068G>A" "" "" "" "CEP104(NM_014704.4):c.397C>T (p.(His133Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991208" "0" "30" "1" "3732862" "3732862" "subst" "0.000520298" "01804" "CEP104_000002" "g.3732862C>A" "" "" "" "CEP104(NM_014704.3):c.2644G>T (p.A882S, p.(Ala882Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991209" "0" "30" "1" "3740068" "3740068" "subst" "0.000198969" "01804" "CEP104_000053" "g.3740068C>T" "" "" "" "CEP104(NM_014704.3):c.2423G>A (p.(Gly808Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991210" "0" "50" "1" "3753151" "3753151" "subst" "8.12255E-6" "01804" "CEP104_000054" "g.3753151G>A" "" "" "" "CEP104(NM_014704.3):c.1225C>T (p.(Arg409Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027585" "3" "90" "1" "3745889" "3745889" "subst" "0" "00006" "CEP104_000055" "g.3745889C>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.3829325C>T" "" "pathogenic (recessive)" "" "0001032008" "0" "30" "1" "3756166" "3756166" "subst" "4.5189E-5" "01804" "CEP104_000056" "g.3756166C>A" "" "" "" "CEP104(NM_014704.4):c.735+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032009" "0" "90" "1" "3761541" "3761541" "subst" "1.62431E-5" "01804" "CEP104_000034" "g.3761541G>A" "" "" "" "CEP104(NM_014704.4):c.496C>T (p.(Arg166Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045678" "0" "30" "1" "3746432" "3746432" "subst" "0.00278962" "02326" "CEP104_000013" "g.3746432G>A" "" "" "" "CEP104(NM_014704.3):c.1966C>T (p.R656C, p.(Arg656Cys)), CEP104(NM_014704.4):c.1966C>T (p.R656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045679" "0" "10" "1" "3753068" "3753068" "subst" "0.00276863" "02326" "CEP104_000017" "g.3753068T>A" "" "" "" "CEP104(NM_014704.3):c.1308A>T (p.G436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001047666" "0" "90" "1" "3753248" "3753262" "del" "0" "00006" "CEP104_000057" "g.3753248_3753262del" "" "{PMID:Takata 2014:24853937}, {DOI:Takata 2014:10.1016/j.neuron.2014.04.043}" "" "del CAGGGACTCTGCTG, 1120-3_1131del" "" "De novo" "" "" "0" "" "" "g.3836684_3836698del" "" "VUS" "" "0001049877" "0" "70" "1" "3753057" "3753057" "subst" "0" "01804" "CEP104_000058" "g.3753057A>C" "" "" "" "CEP104(NM_014704.4):c.1317+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001049878" "0" "50" "1" "3755614" "3755614" "subst" "0.000134" "01804" "CEP104_000059" "g.3755614C>T" "" "" "" "CEP104(NM_014704.4):c.805G>A (p.(Ala269Thr))" "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 CEP104 ## Count = 69 "{{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}}" "0000079147" "00004993" "00" "1137" "0" "1137" "0" "c.1137C>G" "r.(?)" "p.(Tyr379*)" "" "0000273136" "00004993" "50" "2286" "0" "2286" "0" "c.2286del" "r.(?)" "p.(Glu762AspfsTer19)" "" "0000273137" "00004993" "30" "2571" "6" "2571" "6" "c.2571+6G>A" "r.(=)" "p.(=)" "" "0000273138" "00004993" "30" "2644" "0" "2644" "0" "c.2644G>T" "r.(?)" "p.(Ala882Ser)" "" "0000273139" "00004993" "10" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Ala164Ser)" "" "0000273140" "00004993" "50" "82" "0" "82" "0" "c.82G>C" "r.(?)" "p.(Ala28Pro)" "" "0000320481" "00004993" "50" "1762" "0" "1762" "0" "c.1762A>G" "r.(?)" "p.(Met588Val)" "" "0000507337" "00004993" "30" "2482" "0" "2482" "0" "c.2482A>G" "r.(?)" "p.(Ile828Val)" "" "0000507338" "00004993" "50" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Thr796Met)" "" "0000507339" "00004993" "30" "2232" "0" "2232" "0" "c.2232C>G" "r.(?)" "p.(Ile744Met)" "" "0000507341" "00004993" "30" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Cys)" "" "0000507342" "00004993" "30" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Cys)" "" "0000507343" "00004993" "30" "1317" "5" "1317" "5" "c.1317+5A>G" "r.spl?" "p.?" "" "0000507344" "00004993" "30" "1313" "0" "1317" "2" "c.1313_1317+2del" "r.spl?" "p.?" "" "0000507345" "00004993" "30" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Glu437Lys)" "" "0000507347" "00004993" "30" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(His390Arg)" "" "0000507349" "00004993" "50" "626" "0" "626" "0" "c.626A>G" "r.(?)" "p.(Glu209Gly)" "" "0000507350" "00004993" "30" "569" "0" "569" "0" "c.569A>G" "r.(?)" "p.(Lys190Arg)" "" "0000507351" "00004993" "30" "550" "0" "550" "0" "c.550G>C" "r.(?)" "p.(Glu184Gln)" "" "0000654023" "00004993" "30" "2736" "0" "2736" "0" "c.2736C>T" "r.(?)" "p.(Gly912=)" "" "0000654024" "00004993" "30" "2124" "0" "2124" "0" "c.2124A>G" "r.(?)" "p.(Ala708=)" "" "0000688159" "00004993" "50" "2621" "0" "2621" "0" "c.2621G>A" "r.(?)" "p.(Arg874His)" "" "0000688160" "00004993" "30" "1884" "0" "1884" "0" "c.1884G>T" "r.(?)" "p.(Thr628=)" "" "0000688161" "00004993" "50" "485" "0" "485" "0" "c.485A>G" "r.(?)" "p.(Asn162Ser)" "" "0000717454" "00004993" "30" "2583" "0" "2583" "0" "c.2583T>C" "r.(?)" "p.(Ala861=)" "" "0000717455" "00004993" "30" "2364" "8" "2364" "8" "c.2364+8C>T" "r.(=)" "p.(=)" "" "0000717456" "00004993" "50" "2318" "0" "2318" "0" "c.2318A>T" "r.(?)" "p.(Tyr773Phe)" "" "0000717457" "00004993" "30" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Cys)" "" "0000717458" "00004993" "90" "1051" "0" "1054" "0" "c.1051_1054del" "r.(?)" "p.(Thr351PhefsTer8)" "" "0000717459" "00004993" "30" "487" "0" "487" "0" "c.487A>C" "r.(?)" "p.(Thr163Pro)" "" "0000717460" "00004993" "50" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Trp)" "" "0000765694" "00004993" "90" "735" "2" "735" "2" "c.735+2T>C" "r.spl" "p.?" "" "0000765695" "00004993" "90" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Ter)" "" "0000765696" "00004993" "90" "1328" "0" "1329" "0" "c.1328_1329insT" "r.(?)" "p.(Tyr444LeufsTer3)" "" "0000765735" "00004993" "90" "2572" "-2" "2572" "-2" "c.2572-2A>G" "r.spl" "p.?" "" "0000799335" "00004993" "30" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Val493=)" "" "0000799336" "00004993" "50" "1340" "0" "1340" "0" "c.1340C>T" "r.(?)" "p.(Thr447Met)" "" "0000817859" "00004993" "90" "2356" "0" "2357" "0" "c.2356_2357insTT" "r.(?)" "p.(Cys786PhefsTer11)" "" "0000817926" "00004993" "90" "1901" "0" "1901" "0" "c.1901dup" "r.(?)" "p.(Leu634PhefsTer33)" "" "0000848718" "00004993" "50" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Asp652Asn)" "" "0000848719" "00004993" "50" "583" "0" "583" "0" "c.583T>G" "r.(?)" "p.(Ser195Ala)" "" "0000857475" "00004993" "30" "2736" "0" "2736" "0" "c.2736C>T" "r.(?)" "p.(Gly912=)" "" "0000857476" "00004993" "10" "1884" "0" "1884" "0" "c.1884G>T" "r.(?)" "p.(Thr628=)" "" "0000857477" "00004993" "50" "1485" "0" "1485" "0" "c.1485C>T" "r.(?)" "p.(Ser495=)" "" "0000857478" "00004993" "30" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Leu484=)" "" "0000857479" "00004993" "10" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(His390Arg)" "" "0000880151" "00004993" "50" "2711" "0" "2711" "0" "c.2711G>T" "r.(?)" "p.(Gly904Val)" "" "0000883434" "00004993" "30" "2662" "16" "2662" "16" "c.2662+16G>A" "r.(=)" "p.(=)" "" "0000883435" "00004993" "30" "2559" "0" "2559" "0" "c.2559C>G" "r.(?)" "p.(Ser853Arg)" "" "0000883436" "00004993" "30" "2124" "0" "2124" "0" "c.2124A>G" "r.(?)" "p.(Ala708=)" "" "0000883437" "00004993" "30" "1317" "15" "1317" "16" "c.1317+15_1317+16insCAA" "r.(=)" "p.(=)" "" "0000883438" "00004993" "30" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(Pro361=)" "" "0000883439" "00004993" "10" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Ala164Ser)" "" "0000883440" "00004993" "30" "177" "0" "177" "0" "c.177G>T" "r.(?)" "p.(Leu59=)" "" "0000911070" "00004993" "10" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Glu857Lys)" "" "0000944453" "00004993" "90" "453" "0" "453" "0" "c.453T>G" "r.(?)" "p.(Ile151Met)" "" "0000973926" "00004993" "30" "2365" "-10" "2365" "-10" "c.2365-10C>T" "r.(=)" "p.(=)" "" "0000973927" "00004993" "50" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(His133Tyr)" "" "0000991208" "00004993" "30" "2644" "0" "2644" "0" "c.2644G>T" "r.(?)" "p.(Ala882Ser)" "" "0000991209" "00004993" "30" "2423" "0" "2423" "0" "c.2423G>A" "r.(?)" "p.(Gly808Glu)" "" "0000991210" "00004993" "50" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Arg409Trp)" "" "0001027585" "00004993" "90" "2092" "0" "2092" "0" "c.2092G>A" "r.(?)" "p.(Glu698Lys)" "" "0001032008" "00004993" "30" "735" "6" "735" "6" "c.735+6G>T" "r.(=)" "p.(=)" "" "0001032009" "00004993" "90" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166*)" "" "0001045678" "00004993" "30" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Cys)" "" "0001045679" "00004993" "10" "1308" "0" "1308" "0" "c.1308A>T" "r.(?)" "p.(Gly436=)" "" "0001047666" "00004993" "90" "1120" "-2" "1132" "0" "c.1120-2_1132del" "r.spl" "p.?" "" "0001049877" "00004993" "70" "1317" "2" "1317" "2" "c.1317+2T>G" "r.spl?" "p.?" "" "0001049878" "00004993" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Ala269Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000050195" "0000079147" "0000364787" "0000765694" "0000364788" "0000765695" "0000364788" "0000765735" "0000364789" "0000765696" "0000389066" "0000817859" "0000389133" "0000817926" "0000419892" "0000880151" "0000443056" "0000944453" "0000463956" "0001027585" "0000468119" "0001047666"