### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EP400) # 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}}" "EP400" "E1A binding protein p400" "12" "q24.33" "unknown" "NC_000012.11" "UD_132319695215" "" "http://www.LOVD.nl/EP400" "" "1" "11958" "57634" "606265" "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/EP400_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-04 13:33:05" "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}}" "00007136" "EP400" "E1A binding protein p400" "001" "NM_015409.4" "" "NP_056224.3" "" "" "" "-152" "12165" "9372" "132434465" "132565011" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EP400" "04270" "EP400" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00438622" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0097" "00459449" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Pat1" "00459450" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "Pat2" "00459451" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "Pat3" "00459452" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "Pat4" "00459453" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Pat5" "00459454" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Pat6" "00459455" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "Pat7" "00459456" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Pat8" "00459457" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Pat9" "00459458" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Pat10" "00459459" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "Pat11" "00459460" "" "" "" "1" "" "00006" "{PMID:Luo 2025:39708813}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Pat12" "00459461" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Kosmicki 2017:28191890}" "" "" "" "" "" "0" "" "" "" "" "00459462" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "" "" "" "" "0" "" "" "" "" "00459463" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Kosmicki 2017:28191890}" "" "" "" "" "" "0" "" "" "" "" "00459464" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Kosmicki 2017:28191890}" "" "" "" "" "" "0" "" "" "" "" "00459465" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Turner 2019:31785789}" "" "" "" "" "" "0" "" "" "" "" "00459466" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Turner 2019:31785789}, {PMID:Kaplanis 2022:33057194}" "" "" "" "" "" "0" "" "" "" "" "00459467" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Demos 2019:31164858}" "" "" "" "" "" "0" "" "" "" "" "00459468" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Fu 2022:35982160}" "" "" "" "" "" "0" "" "" "" "" "00459469" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Fu 2022:35982160}" "" "" "" "" "" "0" "" "" "" "" "00459470" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Fu 2022:35982160}" "" "" "" "" "" "0" "" "" "" "" "00459471" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Fu 2022:35982160}" "" "" "" "" "" "0" "" "" "" "" "00459472" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Fu 2022:35982160}" "" "" "" "" "" "0" "" "" "" "" "00459473" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "" "" "" "" "0" "" "" "" "" "00459474" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "" "" "" "" "0" "" "" "" "" "00459475" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "" "" "" "" "0" "" "" "" "" "00459476" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "" "" "0" "" "" "" "" "00459477" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "" "" "0" "" "" "" "" "00459478" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "" "" "0" "" "" "" "" "00459479" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "" "" "0" "" "" "" "" "00459480" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "" "" "0" "" "" "" "" "00459481" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "" "" "" "" "0" "" "" "" "" "00459482" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "" "" "" "" "0" "" "" "" "" "00459483" "" "" "" "1" "" "00006" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "" "" "0" "" "" "" "" "00462317" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems; 2-generation family, 1 affected, unaffected heterozygous EP400 carrier parents" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00438622" "06906" "00459449" "05611" "00459450" "05611" "00459451" "05611" "00459452" "05611" "00459453" "05611" "00459454" "05611" "00459455" "05611" "00459456" "05611" "00459457" "05611" "00459458" "05611" "00459459" "05611" "00459460" "05611" "00459461" "00198" "00459462" "00198" "00459463" "00198" "00459464" "00198" "00459465" "00198" "00459466" "00198" "00459467" "00198" "00459468" "00198" "00459469" "00198" "00459470" "00198" "00459471" "00198" "00459472" "00198" "00459473" "00198" "00459474" "00198" "00459475" "00198" "00459476" "00198" "00459477" "00198" "00459478" "00198" "00459479" "00198" "00459480" "00198" "00459481" "00198" "00459482" "00198" "00459483" "00198" "00462317" "00332" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00332, 04270, 05611, 06906 ## Count = 37 "{{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}}" "0000328525" "06906" "00438622" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000347523" "05611" "00459449" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., 13y-onset seizures; twice generalized tonic-clonic seizures; treated seizure-free 2y; EEG generalized ploy-spike-slow and spike-slow waves; multifocal spike-slow waves; MRI brain normal; mild global developmental delay, intellectual disability, speech delay, motor delay, ASD" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347524" "05611" "00459450" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., 3m-onset seizures; generalized tonic-clonic seizures 3 times per month; treated seizure-free 6m; EEG spike-slow waves in bilateral frontal-central and right posterior-parietal temporal areas; MRI brain normal; mild global developmental delay, intellectual disability, motor delay" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347525" "05611" "00459451" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., 6y-onset seizures; complex partial seizure and generalized tonic-clonic seizures 2 times per week; treated seizure-free 8m; EEG sharp waves and sharp slow waves temporal/central/parietal regions; MRI brain normal; global developmental delay, intellectual disability, speech delay, motor delay; abnormal gait; genu varum" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347526" "05611" "00459452" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., 7m-onset seizures; complex partial seizure and generalized tonic-clonic seizures 1-4 times per month; treated seizure-free 3y; EEG spike and spike slow waves bilateral medial temporal and central region; MRI brain corpus callosum dysplasia, cerebral atrophy; severe global developmental delay, intellectual disability, speech delay, motor delay, cerebral palsy; cerebral palsy, asymmetrical eyes" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347527" "05611" "00459453" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., 1y-onset seizures; complex partial seizure and generalized tonic-clonic seizures 2-4 times per month; treated seizure-free 4y; EEG spike and spike slow waves in bilateral Rolandic areas, electrical status epilepticus during sleep; MRI brain normal; mild intellectual disability" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347528" "05611" "00459454" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., 10y-onset seizures; generalized tonic-clonic seizures 4 times per year ; treated seizure-free 1y; EEG generalized ploy-spike-slow and spike-slow waves, and multifocal spike-slow waves; MRI brain normal; mild intellectual disability" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347529" "05611" "00459455" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., 11m-onset seizures; complex partial seizure, and generalized tonic-clonic seizures 2-3 times per year (occasionally fever-induced), twice SE; treated seizure-free 2y; EEG generalized 2-4 Hz slow activity; MRI brain normal; mild intellectual disability" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347530" "05611" "00459456" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., 9m-onset seizures; complex partial seizure and spasms 2 time per day; treated seizure-free 1y6m; EEG hypsarrhythmia, waves; MRI brain normal; moderate global developmental delay, intellectual disability, motor delay, attention deficit hyperactivity disorder" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347531" "05611" "00459457" "00006" "Familial, autosomal recessive" "5m" "see paper; ..., 3m-onset seizures; generalized and focal seizures; EEG multifocal spike and spike-slow waves; MRI brain delayed myelination; global developmental delay, intellectual disability, speech delay, motor delay" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347532" "05611" "00459458" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., 1m-onset seizures; complex partial seizure; EEG multifocal spike-slow waves; MRI brain corpus callosum, cerebral atrophy; severe global developmental delay, severe intellectual disability; microcephaly, asymmetrical eyes" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347533" "05611" "00459459" "00006" "Isolated (sporadic)" "6y" "see paper; ..., 3y-onset seizures; complex partial seizure and generalized tonic-clonic seizures; treated seizure-free 1y6m; EEG multifocal spike-slow waves; MRI brain normal; mild global developmental delay, intellectual disability, motor delay; asymmetrical eyes" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay, epilepsy" "" "0000347534" "05611" "00459460" "00006" "Isolated (sporadic)" "13y" "see paper; ..., no seizures; EEG normal; MRI brain normal; moderate global developmental delay, intellectual disability, speech delay, attention deficit hyperactivity disorder; asymmetrical eyes, thick lips" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000347535" "00198" "00459461" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347536" "00198" "00459462" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000347537" "00198" "00459463" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347538" "00198" "00459464" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347539" "00198" "00459465" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000347540" "00198" "00459466" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "periventricular nodular heterotopia" "" "0000347541" "00198" "00459467" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000347542" "00198" "00459468" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347543" "00198" "00459469" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347544" "00198" "00459470" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347545" "00198" "00459471" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347546" "00198" "00459472" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347547" "00198" "00459473" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347548" "00198" "00459474" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347549" "00198" "00459475" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347550" "00198" "00459476" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000347551" "00198" "00459477" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000347552" "00198" "00459478" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000347553" "00198" "00459479" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000347554" "00198" "00459480" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000347555" "00198" "00459481" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000347556" "00198" "00459482" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000347557" "00198" "00459483" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "developmental disorder, autism spectrum disorder" "" "0000349816" "00332" "00462317" "00006" "Unknown" "" "dextrocardia, pulmonary stenosis, respiratory infections; family members with congenital heart anomalies" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000440104" "00438622" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000461074" "00459449" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461075" "00459450" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461076" "00459451" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461077" "00459452" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461078" "00459453" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461079" "00459454" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461080" "00459455" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461081" "00459456" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461082" "00459457" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461083" "00459458" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461084" "00459459" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461085" "00459460" "1" "00006" "00006" "2025-01-05 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461086" "00459461" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461087" "00459462" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461088" "00459463" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461089" "00459464" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461090" "00459465" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461091" "00459466" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461092" "00459467" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461093" "00459468" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461094" "00459469" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461095" "00459470" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461096" "00459471" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461097" "00459472" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461098" "00459473" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461099" "00459474" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461100" "00459475" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461101" "00459476" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461102" "00459477" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461103" "00459478" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461104" "00459479" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461105" "00459480" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461106" "00459481" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461107" "00459482" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461108" "00459483" "1" "00006" "00006" "2025-01-05 12:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463949" "00462317" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 77 "{{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}}" "0000256430" "0" "50" "12" "132530396" "132530396" "subst" "4.06111E-6" "01943" "EP400_000004" "g.132530396A>G" "" "" "" "EP400(NM_015409.4):c.7151A>G (p.Q2384R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132045851A>G" "" "VUS" "" "0000268858" "0" "50" "12" "132530073" "132530073" "subst" "0" "02329" "EP400_000003" "g.132530073T>A" "" "" "" "EP400(NM_015409.5):c.6994T>A (p.W2332R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132045528T>A" "" "VUS" "" "0000276179" "0" "50" "12" "132466767" "132466767" "subst" "0" "01943" "EP400_000001" "g.132466767C>T" "" "" "" "EP400(NM_015409.4):c.1673C>T (p.P558L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131982222C>T" "" "VUS" "" "0000276180" "0" "30" "12" "132549254" "132549254" "subst" "0.000399121" "01943" "EP400_000007" "g.132549254C>T" "" "" "" "EP400(NM_015409.4):c.8376C>T (p.P2792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132064709C>T" "" "likely benign" "" "0000276181" "0" "30" "12" "132549332" "132549332" "subst" "8.67761E-5" "01943" "EP400_000008" "g.132549332G>A" "" "" "" "EP400(NM_015409.4):c.8454G>A (p.P2818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132064787G>A" "" "likely benign" "" "0000323237" "0" "50" "12" "132529447" "132529447" "subst" "0" "01804" "EP400_000002" "g.132529447C>T" "" "" "" "EP400(NM_015409.4):c.6733C>T (p.(Pro2245Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132044902C>T" "" "VUS" "" "0000345268" "0" "50" "12" "132530290" "132530290" "subst" "0" "02327" "EP400_000010" "g.132530290G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132045745G>A" "" "VUS" "" "0000547130" "0" "30" "12" "132445687" "132445687" "subst" "0.00199387" "01804" "EP400_000012" "g.132445687G>A" "" "" "" "EP400(NM_015409.4):c.523G>A (p.(Val175Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131961142G>A" "" "likely benign" "" "0000547131" "0" "30" "12" "132505688" "132505688" "subst" "6.05306E-5" "01943" "EP400_000013" "g.132505688G>A" "" "" "" "EP400(NM_015409.4):c.4512G>A (p.S1504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132021143G>A" "" "likely benign" "" "0000547132" "0" "50" "12" "132512032" "132512032" "subst" "2.4422E-5" "01804" "EP400_000014" "g.132512032G>A" "" "" "" "EP400(NM_015409.4):c.5065G>A (p.(Gly1689Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132027487G>A" "" "VUS" "" "0000547133" "0" "50" "12" "132516590" "132516590" "subst" "2.43643E-5" "01943" "EP400_000015" "g.132516590G>A" "" "" "" "EP400(NM_015409.4):c.5847G>A (p.A1949=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132032045G>A" "" "VUS" "" "0000613958" "0" "50" "12" "132535181" "132535181" "subst" "5.685E-5" "02325" "EP400_000018" "g.132535181G>A" "" "" "" "EP400(NM_015409.5):c.7375G>A (p.A2459T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132050636G>A" "" "VUS" "" "0000657038" "0" "30" "12" "132514640" "132514640" "subst" "0.000158368" "01943" "EP400_000020" "g.132514640C>T" "" "" "" "EP400(NM_015409.4):c.5691C>T (p.F1897=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132030095C>T" "" "likely benign" "" "0000679438" "0" "10" "12" "132547129" "132547137" "dup" "0" "02330" "EP400_000021" "g.132547129_132547137dup" "" "" "" "EP400(NM_015409.5):c.8217_8225dupGCAGCAGCA (p.Q2746_Q2748dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805613" "0" "30" "12" "132445443" "132445443" "subst" "4.06994E-6" "01943" "EP400_000022" "g.132445443A>G" "" "" "" "EP400(NM_015409.4):c.279A>G (p.P93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805614" "0" "50" "12" "132539679" "132539679" "subst" "0" "01943" "EP400_000023" "g.132539679G>A" "" "" "" "EP400(NM_015409.4):c.7810G>A (p.A2604T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890407" "0" "10" "12" "132547135" "132547137" "dup" "0" "02326" "EP400_000017" "g.132547135_132547137dup" "" "" "" "EP400(NM_015409.5):c.8223_8225dupGCA (p.Q2748dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000936406" "0" "50" "12" "132561080" "132561080" "subst" "0" "00006" "EP400_000024" "g.132561080T>C" "" "{PMID:Hamdan 2017:29100083}" "" "NM_015409:c.T9041C (V3014A)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000980133" "0" "30" "12" "132446281" "132446281" "subst" "0.000861047" "01804" "EP400_000027" "g.132446281T>C" "" "" "" "EP400(NM_015409.5):c.1117T>C (p.(Tyr373His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980134" "0" "30" "12" "132466771" "132466771" "subst" "0.000379992" "01804" "EP400_000028" "g.132466771G>C" "" "" "" "EP400(NM_015409.5):c.1677G>C (p.(Gly559=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980135" "0" "50" "12" "132502116" "132502116" "subst" "2.03224E-5" "01804" "EP400_000029" "g.132502116C>T" "" "" "" "EP400(NM_015409.5):c.3960C>T (p.(Asn1320=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980136" "0" "30" "12" "132510311" "132510311" "subst" "0.00136913" "01804" "EP400_000030" "g.132510311C>T" "" "" "" "EP400(NM_015409.5):c.4976C>T (p.(Pro1659Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980137" "0" "50" "12" "132547123" "132547137" "dup" "0" "01804" "EP400_000031" "g.132547123_132547137dup" "" "" "" "EP400(NM_015409.5):c.8211_8225dup (p.(Gln2744_Gln2748dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980138" "0" "50" "12" "132561148" "132561148" "subst" "7.85449E-5" "01804" "EP400_000032" "g.132561148A>G" "" "" "" "EP400(NM_015409.5):c.9099+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020170" "11" "90" "12" "132445537" "132445537" "subst" "0" "00006" "EP400_000035" "g.132445537T>C" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.131960992T>C" "" "pathogenic (recessive)" "" "0001020171" "11" "90" "12" "132445627" "132445627" "subst" "5.13266E-5" "00006" "EP400_000037" "g.132445627C>T" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.131961082C>T" "" "pathogenic (recessive)" "" "0001020172" "11" "90" "12" "132549346" "132549346" "subst" "0" "00006" "EP400_000072" "g.132549346G>A" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132064801G>A" "" "pathogenic (recessive)" "" "0001020173" "11" "90" "12" "132497638" "132497638" "subst" "6.50444E-5" "00006" "EP400_000050" "g.132497638C>T" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132013093C>T" "" "pathogenic (recessive)" "" "0001020174" "11" "90" "12" "132549363" "132549363" "subst" "8.31905E-6" "00006" "EP400_000073" "g.132549363G>C" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132064818G>C" "" "pathogenic (recessive)" "" "0001020175" "11" "90" "12" "132474652" "132474652" "subst" "8.52108E-6" "00006" "EP400_000046" "g.132474652G>A" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.131990107G>A" "" "pathogenic (recessive)" "" "0001020176" "11" "90" "12" "132549334" "132549334" "subst" "7.01847E-5" "00006" "EP400_000071" "g.132549334C>T" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132064789C>T" "" "pathogenic (recessive)" "" "0001020177" "11" "90" "12" "132446134" "132446134" "subst" "0.00144284" "00006" "EP400_000039" "g.132446134A>G" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.131961589A>G" "" "pathogenic (recessive)" "" "0001020178" "11" "90" "12" "132445627" "132445627" "subst" "5.13266E-5" "00006" "EP400_000037" "g.132445627C>T" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.131961082C>T" "" "pathogenic (recessive)" "" "0001020179" "11" "90" "12" "132529869" "132529869" "subst" "0" "00006" "EP400_000061" "g.132529869G>A" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132045324G>A" "" "pathogenic (recessive)" "" "0001020180" "0" "90" "12" "132529911" "132529911" "subst" "0" "00006" "EP400_000062" "g.132529911C>G" "" "{PMID:Luo 2025:39708813}" "" "" "" "De novo" "" "" "0" "" "" "g.132045366C>G" "" "pathogenic (dominant)" "" "0001020181" "0" "90" "12" "132502216" "132502216" "dup" "0" "00006" "EP400_000053" "g.132502216dup" "" "{PMID:Luo 2025:39708813}" "" "" "" "De novo" "" "" "0" "" "" "g.132017671dup" "" "pathogenic (dominant)" "" "0001020182" "21" "90" "12" "132490710" "132490710" "subst" "8.12236E-6" "00006" "EP400_000049" "g.132490710G>A" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132006165G>A" "" "pathogenic (recessive)" "" "0001020183" "21" "90" "12" "132546815" "132546815" "subst" "8.13226E-6" "00006" "EP400_000068" "g.132546815A>G" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132062270A>G" "" "pathogenic (recessive)" "" "0001020184" "21" "90" "12" "132527903" "132527903" "subst" "8.12189E-5" "00006" "EP400_000059" "g.132527903G>T" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132043358G>T" "" "pathogenic (recessive)" "" "0001020185" "21" "90" "12" "132528779" "132528779" "subst" "5.28211E-5" "00006" "EP400_000060" "g.132528779G>A" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132044234G>A" "" "pathogenic (recessive)" "" "0001020186" "21" "90" "12" "132527902" "132527902" "subst" "0.00012184" "00006" "EP400_000058" "g.132527902G>T" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132043357G>T" "" "pathogenic (recessive)" "" "0001020187" "21" "90" "12" "132479495" "132479495" "subst" "1.62458E-5" "00006" "EP400_000047" "g.132479495A>G" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.131994950A>G" "" "pathogenic (recessive)" "" "0001020188" "21" "90" "12" "132562007" "132562007" "del" "0" "00006" "EP400_000077" "g.132562007del" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132077462del" "" "pathogenic (recessive)" "" "0001020189" "21" "90" "12" "132534934" "132534934" "subst" "3.24852E-5" "00006" "EP400_000065" "g.132534934C>A" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.132050389C>A" "" "pathogenic (recessive)" "" "0001020190" "20" "90" "12" "132446276" "132446276" "subst" "0" "00006" "EP400_000041" "g.132446276A>G" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.131961731A>G" "" "pathogenic (recessive)" "" "0001020191" "21" "90" "12" "132445574" "132445574" "subst" "0.000249488" "00006" "EP400_000036" "g.132445574C>T" "" "{PMID:Luo 2025:39708813}" "" "" "" "Germline" "" "" "0" "" "" "g.131961029C>T" "" "pathogenic (recessive)" "" "0001020192" "0" "70" "12" "132445339" "132445339" "subst" "0" "00006" "EP400_000034" "g.132445339C>T" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Kosmicki 2017:28191890}" "" "" "" "De novo" "" "" "0" "" "" "g.131960794C>T" "" "likely pathogenic (dominant)" "" "0001020193" "0" "70" "12" "132549256" "132549256" "del" "0" "00006" "EP400_000069" "g.132549256del" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "8378delC" "" "De novo" "" "" "0" "" "" "g.132064711del" "" "likely pathogenic (dominant)" "" "0001020194" "0" "70" "12" "132466938" "132466941" "dup" "0" "00006" "EP400_000045" "g.132466938_132466941dup" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Kosmicki 2017:28191890}" "" "1844_1847dupCCTC" "" "De novo" "" "" "0" "" "" "g.131982393_131982396dup" "" "likely pathogenic (dominant)" "" "0001020195" "0" "70" "12" "132516666" "132516666" "subst" "0" "00006" "EP400_000056" "g.132516666G>A" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Kosmicki 2017:28191890}" "" "" "" "De novo" "" "" "0" "" "" "g.132032121G>A" "" "likely pathogenic (dominant)" "" "0001020196" "0" "70" "12" "132530369" "132530369" "subst" "0" "00006" "EP400_000064" "g.132530369G>A" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Turner 2019:31785789}" "" "" "" "De novo" "" "" "0" "" "" "g.132045824G>A" "" "likely pathogenic (dominant)" "" "0001020197" "0" "70" "12" "132534980" "132534980" "subst" "0" "00006" "EP400_000066" "g.132534980A>G" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Turner 2019:31785789}, {PMID:Kaplanis 2022:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.132050435A>G" "" "likely pathogenic (dominant)" "" "0001020198" "11" "70" "12" "132522531" "132522531" "subst" "0.00100297" "00006" "EP400_000057" "g.132522531C>T" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Demos 2019:31164858}" "" "" "" "Germline" "" "" "0" "" "" "g.132037986C>T" "" "likely pathogenic (recessive)" "" "0001020199" "0" "70" "12" "132446144" "132446144" "subst" "0" "00006" "EP400_000040" "g.132446144T>G" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Fu 2022:35982160}" "" "" "" "De novo" "" "" "0" "" "" "g.131961599T>G" "" "likely pathogenic (dominant)" "" "0001020200" "0" "70" "12" "132498073" "132498073" "subst" "0" "00006" "EP400_000051" "g.132498073A>G" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Fu 2022:35982160}" "" "" "" "De novo" "" "" "0" "" "" "g.132013528A>G" "" "likely pathogenic (dominant)" "" "0001020201" "0" "70" "12" "132514317" "132514317" "subst" "0" "00006" "EP400_000055" "g.132514317A>C" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Fu 2022:35982160}" "" "" "" "De novo" "" "" "0" "" "" "g.132029772A>C" "" "likely pathogenic (dominant)" "" "0001020202" "0" "70" "12" "132529964" "132529964" "subst" "0" "00006" "EP400_000063" "g.132529964G>C" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Fu 2022:35982160}" "" "" "" "De novo" "" "" "0" "" "" "g.132045419G>C" "" "likely pathogenic (dominant)" "" "0001020203" "0" "70" "12" "132445252" "132445253" "ins" "0" "00006" "EP400_000033" "g.132445252_132445253insGGCCCCCC" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Fu 2022:35982160}" "" "" "" "De novo" "" "" "0" "" "" "g.131960707_131960708insGGCCCCCC" "" "likely pathogenic (dominant)" "" "0001020204" "0" "70" "12" "132446006" "132446023" "dup" "0" "00006" "EP400_000038" "g.132446006_132446023dup" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "842_859dup18" "" "De novo" "" "" "0" "" "" "g.131961461_131961478dup" "" "likely pathogenic (dominant)" "" "0001020205" "0" "70" "12" "132498424" "132498424" "subst" "0" "00006" "EP400_000052" "g.132498424A>G" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "" "" "De novo" "" "" "0" "" "" "g.132013879A>G" "" "likely pathogenic (dominant)" "" "0001020206" "0" "70" "12" "132537749" "132537749" "subst" "0" "00006" "EP400_000067" "g.132537749C>T" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "" "" "De novo" "" "" "0" "" "" "g.132053204C>T" "" "likely pathogenic (dominant)" "" "0001020207" "0" "70" "12" "132466090" "132466090" "subst" "0" "00006" "EP400_000043" "g.132466090C>T" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.131981545C>T" "" "likely pathogenic (dominant)" "" "0001020208" "0" "70" "12" "132490690" "132490690" "subst" "0" "00006" "EP400_000048" "g.132490690G>A" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.132006145G>A" "" "likely pathogenic (dominant)" "" "0001020209" "0" "70" "12" "132504607" "132504607" "subst" "0" "00006" "EP400_000054" "g.132504607G>A" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.132020062G>A" "" "likely pathogenic (dominant)" "" "0001020210" "0" "70" "12" "132549328" "132549328" "subst" "0" "00006" "EP400_000070" "g.132549328A>C" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.132064783A>C" "" "likely pathogenic (dominant)" "" "0001020211" "0" "70" "12" "132549394" "132549394" "subst" "0" "00006" "EP400_000075" "g.132549394C>T" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.132064849C>T" "" "likely pathogenic (dominant)" "" "0001020212" "0" "70" "12" "132448072" "132448072" "subst" "0" "00006" "EP400_000042" "g.132448072C>T" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "" "" "De novo" "" "" "0" "" "" "g.131963527C>T" "" "likely pathogenic (dominant)" "" "0001020213" "0" "70" "12" "132466768" "132466768" "del" "0" "00006" "EP400_000044" "g.132466768del" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}" "" "1674delC" "" "De novo" "" "" "0" "" "" "g.131982223del" "" "likely pathogenic (dominant)" "" "0001020214" "0" "70" "12" "132549383" "132549410" "dup" "0" "00006" "EP400_000074" "g.132549383_132549410dup" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Zhou 2022:35982159}, {PMID:Kaplanis 2022:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.132064838_132064865dup" "" "likely pathogenic (dominant)" "" "0001020215" "21" "70" "12" "132551323" "132551323" "subst" "0" "00006" "EP400_000076" "g.132551323G>A" "" "acc. to {PMID:Luo 2025:39708813}: {PMID:Demos 2019:31164858}" "" "" "" "Germline" "" "" "0" "" "" "g.132066778G>A" "" "likely pathogenic (recessive)" "" "0001027597" "3" "30" "12" "132445487" "132445487" "subst" "1.63341E-5" "00006" "EP400_000078" "g.132445487C>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs762116055" "0" "" "" "g.131960942C>T" "" "likely benign" "" "0001039073" "0" "30" "12" "132466815" "132466815" "subst" "0.000592098" "01804" "EP400_000079" "g.132466815C>T" "" "" "" "EP400(NM_015409.5):c.1721C>T (p.(Ala574Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039074" "0" "30" "12" "132522650" "132522658" "del" "0" "01804" "EP400_000080" "g.132522650_132522658del" "" "" "" "EP400(NM_015409.5):c.6207+9_6207+17del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039075" "0" "50" "12" "132547096" "132547097" "del" "0" "01804" "EP400_000081" "g.132547096_132547097del" "" "" "" "EP400(NM_015409.5):c.8184_8185del (p.(Gln2729Alafs*253))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039076" "0" "50" "12" "132547099" "132547111" "del" "0" "01804" "EP400_000082" "g.132547099_132547111del" "" "" "" "EP400(NM_015409.5):c.8187_8199del (p.(Gln2729HisfsTer44))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039077" "0" "50" "12" "132547132" "132547137" "del" "0" "01804" "EP400_000083" "g.132547132_132547137del" "" "" "" "EP400(NM_015409.5):c.8220_8225del (p.(Gln2747_Gln2748del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039078" "0" "30" "12" "132549337" "132549337" "subst" "8.25921E-5" "01804" "EP400_000084" "g.132549337A>C" "" "" "" "EP400(NM_015409.5):c.8459A>C (p.(Gln2820Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 EP400 ## Count = 77 "{{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}}" "0000256430" "00007136" "50" "7151" "0" "7151" "0" "c.7151A>G" "r.(?)" "p.(Gln2384Arg)" "" "0000268858" "00007136" "50" "6994" "0" "6994" "0" "c.6994T>A" "r.(?)" "p.(Trp2332Arg)" "" "0000276179" "00007136" "50" "1673" "0" "1673" "0" "c.1673C>T" "r.(?)" "p.(Pro558Leu)" "" "0000276180" "00007136" "30" "8376" "0" "8376" "0" "c.8376C>T" "r.(?)" "p.(Pro2792=)" "" "0000276181" "00007136" "30" "8454" "0" "8454" "0" "c.8454G>A" "r.(?)" "p.(Pro2818=)" "" "0000323237" "00007136" "50" "6733" "0" "6733" "0" "c.6733C>T" "r.(?)" "p.(Pro2245Ser)" "" "0000345268" "00007136" "50" "7045" "0" "7045" "0" "c.7045G>A" "r.(?)" "p.(Glu2349Lys)" "" "0000547130" "00007136" "30" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Val175Met)" "" "0000547131" "00007136" "30" "4512" "0" "4512" "0" "c.4512G>A" "r.(?)" "p.(Ser1504=)" "" "0000547132" "00007136" "50" "5065" "0" "5065" "0" "c.5065G>A" "r.(?)" "p.(Gly1689Arg)" "" "0000547133" "00007136" "50" "5847" "0" "5847" "0" "c.5847G>A" "r.(?)" "p.(Ala1949=)" "" "0000613958" "00007136" "50" "7375" "0" "7375" "0" "c.7375G>A" "r.(?)" "p.(Ala2459Thr)" "" "0000657038" "00007136" "30" "5691" "0" "5691" "0" "c.5691C>T" "r.(?)" "p.(Phe1897=)" "" "0000679438" "00007136" "10" "8217" "0" "8225" "0" "c.8217_8225dup" "r.(?)" "p.(Gln2746_Gln2748dup)" "" "0000805613" "00007136" "30" "279" "0" "279" "0" "c.279A>G" "r.(?)" "p.(Pro93=)" "" "0000805614" "00007136" "50" "7810" "0" "7810" "0" "c.7810G>A" "r.(?)" "p.(Ala2604Thr)" "" "0000890407" "00007136" "10" "8223" "0" "8225" "0" "c.8223_8225dup" "r.(?)" "p.(Gln2748dup)" "" "0000936406" "00007136" "50" "9041" "0" "9041" "0" "c.9041T>C" "r.(?)" "p.(Val3014Ala)" "" "0000980133" "00007136" "30" "1117" "0" "1117" "0" "c.1117T>C" "r.(?)" "p.(Tyr373His)" "" "0000980134" "00007136" "30" "1677" "0" "1677" "0" "c.1677G>C" "r.(?)" "p.(=)" "" "0000980135" "00007136" "50" "3960" "0" "3960" "0" "c.3960C>T" "r.(?)" "p.(=)" "" "0000980136" "00007136" "30" "4976" "0" "4976" "0" "c.4976C>T" "r.(?)" "p.(Pro1659Leu)" "" "0000980137" "00007136" "50" "8211" "0" "8225" "0" "c.8211_8225dup" "r.(?)" "p.(Gln2744_Gln2748dup)" "" "0000980138" "00007136" "50" "9099" "10" "9099" "10" "c.9099+10A>G" "r.(=)" "p.(=)" "" "0001020170" "00007136" "90" "373" "0" "373" "0" "c.373T>C" "r.(?)" "p.(Ser125Pro)" "" "0001020171" "00007136" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Pro155Ser)" "" "0001020172" "00007136" "90" "8468" "0" "8468" "0" "c.8468G>A" "r.(?)" "p.(Ser2823Asn)" "" "0001020173" "00007136" "90" "3526" "0" "3526" "0" "c.3526C>T" "r.(?)" "p.(Arg1176Cys)" "" "0001020174" "00007136" "90" "8485" "0" "8485" "0" "c.8485G>C" "r.(?)" "p.(Val2829Leu)" "" "0001020175" "00007136" "90" "2550" "3" "2550" "3" "c.2550+3G>A" "r.spl" "p.?" "" "0001020176" "00007136" "90" "8456" "0" "8456" "0" "c.8456C>T" "r.(?)" "p.(Pro2819Leu)" "" "0001020177" "00007136" "90" "970" "0" "970" "0" "c.970A>G" "r.(?)" "p.(Arg324Gly)" "" "0001020178" "00007136" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Pro155Ser)" "" "0001020179" "00007136" "90" "6790" "0" "6790" "0" "c.6790G>A" "r.(?)" "p.(Gly2264Ser)" "" "0001020180" "00007136" "90" "6832" "0" "6832" "0" "c.6832C>G" "r.(?)" "p.(Pro2278Ala)" "" "0001020181" "00007136" "90" "4060" "0" "4060" "0" "c.4060dup" "r.(?)" "p.(Tyr1354LeufsTer25)" "" "0001020182" "00007136" "90" "2989" "0" "2989" "0" "c.2989G>A" "r.(?)" "p.(Asp997Asn)" "" "0001020183" "00007136" "90" "8045" "0" "8045" "0" "c.8045A>G" "r.(?)" "p.(Asn2682Ser)" "" "0001020184" "00007136" "90" "6262" "0" "6262" "0" "c.6262G>T" "r.(?)" "p.(Gly2088Trp)" "" "0001020185" "00007136" "90" "6508" "0" "6508" "0" "c.6508G>A" "r.(?)" "p.(Glu2170Lys)" "" "0001020186" "00007136" "90" "6261" "0" "6261" "0" "c.6261G>T" "r.(?)" "p.(Glu2087Asp)" "" "0001020187" "00007136" "90" "2821" "0" "2821" "0" "c.2821A>G" "r.(?)" "p.(Lys941Glu)" "" "0001020188" "00007136" "90" "9161" "0" "9161" "0" "c.9161del" "r.(?)" "p.(Ile3054ThrfsTer4)" "" "0001020189" "00007136" "90" "7267" "0" "7267" "0" "c.7267C>A" "r.(?)" "p.(Gln2423Lys)" "" "0001020190" "00007136" "90" "1112" "0" "1112" "0" "c.1112A>G" "r.(?)" "p.(Tyr371Cys)" "" "0001020191" "00007136" "90" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Thr137Met)" "" "0001020192" "00007136" "70" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Gln59Ter)" "" "0001020193" "00007136" "70" "8378" "0" "8378" "0" "c.8378del" "r.(?)" "p.(Pro2793ArgfsTer46)" "" "0001020194" "00007136" "70" "1844" "0" "1847" "0" "c.1844_1847dup" "r.(?)" "p.(Gln617LeufsTer75)" "" "0001020195" "00007136" "70" "5923" "0" "5923" "0" "c.5923G>A" "r.(?)" "p.(Gly1975Arg)" "" "0001020196" "00007136" "70" "7124" "0" "7124" "0" "c.7124G>A" "r.(?)" "p.(Cys2375Tyr)" "" "0001020197" "00007136" "70" "7313" "0" "7313" "0" "c.7313A>G" "r.(?)" "p.(Lys2438Arg)" "" "0001020198" "00007136" "70" "6097" "0" "6097" "0" "c.6097C>T" "r.(?)" "p.(Pro2033Ser)" "" "0001020199" "00007136" "70" "980" "0" "980" "0" "c.980T>G" "r.(?)" "p.(Val327Gly)" "" "0001020200" "00007136" "70" "3650" "0" "3650" "0" "c.3650A>G" "r.(?)" "p.(Asn1217Ser)" "" "0001020201" "00007136" "70" "5453" "0" "5453" "0" "c.5453A>C" "r.(?)" "p.(Tyr1818Ser)" "" "0001020202" "00007136" "70" "6885" "0" "6885" "0" "c.6885G>C" "r.(?)" "p.(Glu2295Asp)" "" "0001020203" "00007136" "70" "88" "0" "89" "0" "c.88_89insGGCCCCCC" "r.(?)" "p.(Ala30GlyfsTer35)" "" "0001020204" "00007136" "70" "842" "0" "859" "0" "c.842_859dup" "r.(?)" "p.(Gln281_Pro286dup)" "" "0001020205" "00007136" "70" "3889" "0" "3889" "0" "c.3889A>G" "r.(?)" "p.(Lys1297Glu)" "" "0001020206" "00007136" "70" "7453" "0" "7453" "0" "c.7453C>T" "r.(?)" "p.(Arg2485Ter)" "" "0001020207" "00007136" "70" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Pro498Ser)" "" "0001020208" "00007136" "70" "2969" "0" "2969" "0" "c.2969G>A" "r.(?)" "p.(Arg990His)" "" "0001020209" "00007136" "70" "4291" "0" "4291" "0" "c.4291G>A" "r.(?)" "p.(Val1431Met)" "" "0001020210" "00007136" "70" "8450" "0" "8450" "0" "c.8450A>C" "r.(?)" "p.(Gln2817Pro)" "" "0001020211" "00007136" "70" "8516" "0" "8516" "0" "c.8516C>T" "r.(?)" "p.(Thr2839Met)" "" "0001020212" "00007136" "70" "1335" "1573" "1335" "1573" "c.1335+1573C>T" "r.spl?" "p.?" "" "0001020213" "00007136" "70" "1674" "0" "1674" "0" "c.1674del" "r.(?)" "p.(Arg560GlyfsTer25)" "" "0001020214" "00007136" "70" "8505" "0" "8532" "0" "c.8505_8532dup" "r.(?)" "p.(Asn2845CysfsTer147)" "" "0001020215" "00007136" "70" "8558" "0" "8558" "0" "c.8558G>A" "r.(?)" "p.(Arg2853Gln)" "" "0001027597" "00007136" "30" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Ala108Val)" "" "0001039073" "00007136" "30" "1721" "0" "1721" "0" "c.1721C>T" "r.(?)" "p.(Ala574Val)" "" "0001039074" "00007136" "30" "6207" "9" "6207" "17" "c.6207+9_6207+17del" "r.(=)" "p.(=)" "" "0001039075" "00007136" "50" "8184" "0" "8185" "0" "c.8184_8185del" "r.(?)" "p.(Gln2729Alafs*253)" "" "0001039076" "00007136" "50" "8187" "0" "8199" "0" "c.8187_8199del" "r.(?)" "p.(Gln2729Hisfs*44)" "" "0001039077" "00007136" "50" "8220" "0" "8225" "0" "c.8220_8225del" "r.(?)" "p.(Gln2747_Gln2748del)" "" "0001039078" "00007136" "30" "8459" "0" "8459" "0" "c.8459A>C" "r.(?)" "p.(Gln2820Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000440104" "0000936406" "0000461074" "0001020170" "0000461074" "0001020182" "0000461075" "0001020171" "0000461075" "0001020183" "0000461076" "0001020172" "0000461076" "0001020184" "0000461077" "0001020173" "0000461077" "0001020185" "0000461078" "0001020174" "0000461078" "0001020186" "0000461079" "0001020175" "0000461079" "0001020187" "0000461080" "0001020176" "0000461080" "0001020188" "0000461081" "0001020177" "0000461081" "0001020189" "0000461082" "0001020178" "0000461082" "0001020190" "0000461083" "0001020179" "0000461083" "0001020191" "0000461084" "0001020180" "0000461085" "0001020181" "0000461086" "0001020192" "0000461087" "0001020193" "0000461088" "0001020194" "0000461089" "0001020195" "0000461090" "0001020196" "0000461091" "0001020197" "0000461092" "0001020198" "0000461092" "0001020215" "0000461093" "0001020199" "0000461094" "0001020200" "0000461095" "0001020201" "0000461096" "0001020202" "0000461097" "0001020203" "0000461098" "0001020204" "0000461099" "0001020205" "0000461100" "0001020206" "0000461101" "0001020207" "0000461102" "0001020208" "0000461103" "0001020209" "0000461104" "0001020210" "0000461105" "0001020211" "0000461106" "0001020212" "0000461107" "0001020213" "0000461108" "0001020214" "0000463949" "0001027597"