### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HECTD1) # 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}}" "HECTD1" "HECT domain containing E3 ubiquitin protein ligase 1" "14" "q12" "unknown" "NC_000014.8" "UD_132319768916" "" "https://www.LOVD.nl/HECTD1" "" "1" "20157" "25831" "618649" "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/HECTD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-03-01 09:46:03" "00006" "2025-02-01 10:30:14" ## 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}}" "00009243" "HECTD1" "HECT domain containing 1" "001" "NM_015382.2" "" "NP_056197.2" "" "" "" "-489" "8645" "7833" "31676689" "31569324" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HECTD1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00462197" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat1" "00462198" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00462199" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00462200" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00462201" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00462202" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00462203" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00462204" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat8" "00462205" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00462206" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00462207" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat11" "00462208" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat12" "00462209" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat13" "00462210" "" "" "" "1" "" "00006" "{PMID:Zerafati-Jahromi 2025:39879987}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat14" "00462211" "" "" "" "1" "" "00006" "{PMID:Homsy 2015:26785492}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "1-02563" "00462212" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "DDD13k.02131" "00462213" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "DDD13k.04533" "00462214" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "RUMC_Pat476" "00462215" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "3456" "00462216" "" "" "" "1" "" "00006" "{PMID:Zhou 2022:35982159}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "SP0130244" "00462217" "" "" "" "1" "" "00006" "{PMID:Zhou 2022:35982159}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "SP0123550" "00462218" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "27672" "00462219" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "71821" "00462220" "" "" "" "1" "" "00006" "{PMID:Iossifov 2014:25363768}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "13711.p1" "00462221" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "RUMC_Pat872" "00462222" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "5352" "00462223" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "117451" "00462224" "" "" "" "1" "" "00006" "{PMID:Kaplanis 2020:33057194}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "53609" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00462197" "05611" "00462198" "05611" "00462199" "05611" "00462200" "05611" "00462201" "05611" "00462202" "05611" "00462203" "05611" "00462204" "05611" "00462205" "05611" "00462206" "05611" "00462207" "05611" "00462208" "05611" "00462209" "05611" "00462210" "05611" "00462211" "00198" "00462212" "00198" "00462213" "00198" "00462214" "00198" "00462215" "00198" "00462216" "00198" "00462217" "00198" "00462218" "00198" "00462219" "00198" "00462220" "00198" "00462221" "00198" "00462222" "00198" "00462223" "00198" "00462224" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 28 "{{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}}" "0000349697" "05611" "00462197" "00006" "Unknown" "10y" "see paper; ..., language delay; no fine motor delay; no gross motor dealy; no microcephaly; epilepsy; normal muscle tone; autism spectrum disorder; MRI brain abnormal; systemic dysphagia; no tube feeding; no congenital heart disease" "" "" "" "" "" "" "" "" "" "epilepsy, autism, language delay" "" "0000349698" "05611" "00462198" "00006" "Isolated (sporadic)" "28y" "see paper; ..., language delay; fine motor delay; no gross motor dealy; intellectual disability; no microcephaly; epilepsy; normal muscle tone; ADD/ADHD; no autism spectrum disorder; no anxiety; no self-injurious behavior; hallucinations; aggressive behavior; MRI brain abnormal; systemic dysphagia; no tube feeding; no cryptorchidism; no congenital heart disease" "8y" "" "" "" "" "" "" "" "" "focal onset status epilepticus" "" "0000349699" "05611" "00462199" "00006" "Isolated (sporadic)" "5y" "see paper; ..., no language delay; no fine motor delay; no gross motor dealy; no microcephaly; epilepsy; normal muscle tone; no ADD/ADHD; no autism spectrum disorder; no anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; systemic dysphagia; tube feeding; no cryptorchidism; no congenital heart disease" "" "" "" "" "" "" "" "" "" "epilepsy, mild global developmental delay" "" "0000349700" "05611" "00462200" "00006" "Isolated (sporadic)" "7y" "see paper; ..., language delay; fine motor delay; gross motor dealy; no microcephaly; no epilepsy; abnormal muscle tone; autism spectrum disorder; no anxiety; self-injurious behavior; no hallucinations; aggressive behavior; MRI brain abnormal; dysphagia; tube feeding; no congenital heart disease" "" "" "" "" "" "" "" "" "" "global developmental delay, behavioral problems, movement disorder" "" "0000349701" "05611" "00462201" "00006" "Isolated (sporadic)" "18y" "see paper; ..., language delay; fine motor delay; no gross motor dealy; intellectual disability; no microcephaly; no epilepsy; normal muscle tone; ADD/ADHD; no autism spectrum disorder; no anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; dysphagia; no tube feeding; cryptorchidism; no congenital heart disease" "" "" "" "" "" "" "" "" "" "intellectual disability, language impairments" "" "0000349702" "05611" "00462202" "00006" "Isolated (sporadic)" "6m" "see paper; ..., no language delay; no fine motor delay; no gross motor dealy; no microcephaly; epilepsy; abnormal muscle tone; MRI brain normal; dysphagia; no tube feeding; no cryptorchidism; no congenital heart disease" "" "" "" "" "" "" "" "" "" "epilepsy, sleep apnea" "" "0000349703" "05611" "00462203" "00006" "Isolated (sporadic)" "9m" "see paper; ..., language delay; fine motor delay; gross motor dealy; microcephaly; no epilepsy; abnormal muscle tone; MRI brain normal; dysphagia; tube feeding; cryptorchidism; congenital heart disease" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot,Pierre Robin sequence, dysmorphic features" "" "0000349704" "05611" "00462204" "00006" "Isolated (sporadic)" "9y" "see paper; ..., no language delay; fine motor delay; no gross motor dealy; no microcephaly; epilepsy; abnormal muscle tone; ADD/ADHD; no autism spectrum disorder; anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; systemic dysphagia; tube feeding; no congenital heart disease" "" "" "" "" "" "" "" "" "" "epilepsy, ADHD, psychiatric abnormalities" "" "0000349705" "05611" "00462205" "00006" "Isolated (sporadic)" "6m" "see paper; ..., no microcephaly; no epilepsy; normal muscle tone; MRI brain abnormal; systemic dysphagia; tube feeding; no cryptorchidism; congenital heart disease; dysconjugate gaze, hypertelorism, long eyelashes, upturned ears with fleshy lobes and mid-lobe indentation, short upturned nose, wide philtrum with deep grooves" "" "" "" "" "" "" "" "" "" "dysmorphism" "" "0000349706" "05611" "00462206" "00006" "Isolated (sporadic)" "17y" "see paper; ..., language delay; no microcephaly; ADD/ADHD; autism spectrum disorder; no cryptorchidism; no congenital heart disease" "" "" "" "" "" "" "" "" "" "language delays, ADHD, autism" "" "0000349707" "05611" "00462207" "00006" "Unknown" "5y" "see paper; ..., language delay; no fine motor delay; no gross motor dealy; microcephaly; epilepsy; normal muscle tone; no ADD/ADHD; autism spectrum disorder; anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain abnormal; systemic dysphagia; no tube feeding; no congenital heart disease" "" "" "" "" "" "" "" "" "" "epilepsy, autism, speech delay" "" "0000349708" "05611" "00462208" "00006" "Isolated (sporadic)" "19y" "see paper; ..., language delay; fine motor delay; gross motor dealy; intellectual disability; no microcephaly; no epilepsy; abnormal muscle tone; ADD/ADHD; no autism spectrum disorder; anxiety; self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; systemic dysphagia; no tube feeding; no congenital heart disease" "" "" "" "" "" "" "" "" "" "global developmental delay, intellectual disability, ADHD" "" "0000349709" "05611" "00462209" "00006" "Unknown" "10y" "see paper; ..., language delay; fine motor delay; no gross motor dealy; no microcephaly; no epilepsy; abnormal muscle tone; ADD/ADHD; autism spectrum disorder; anxiety; no self-injurious behavior; hallucinations; no aggressive behavior; systemic dysphagia; no tube feeding; cryptorchidism; no congenital heart disease" "" "" "" "" "" "" "" "" "" "autism, ADHD, language delay, psychiatric abnormalities" "" "0000349710" "05611" "00462210" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., language delay; fine motor delay; gross motor dealy; microcephaly; no epilepsy; normal muscle tone; ADD/ADHD; no autism spectrum disorder; no anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; systemic dysphagia; no tube feeding; no congenital heart disease" "" "" "" "" "" "" "" "" "" "global developmental delay, ADHD" "" "0000349711" "00198" "00462211" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital hear disease" "" "0000349712" "00198" "00462212" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000349713" "00198" "00462213" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000349714" "00198" "00462214" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000349715" "00198" "00462215" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000349716" "00198" "00462216" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism" "" "0000349717" "00198" "00462217" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism" "" "0000349718" "00198" "00462218" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000349719" "00198" "00462219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000349720" "00198" "00462220" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism" "" "0000349721" "00198" "00462221" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000349722" "00198" "00462222" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000349723" "00198" "00462223" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental disorder" "" "0000349724" "00198" "00462224" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000463829" "00462197" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463830" "00462198" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463831" "00462199" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463832" "00462200" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463833" "00462201" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463834" "00462202" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463835" "00462203" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463836" "00462204" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463837" "00462205" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463838" "00462206" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463839" "00462207" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463840" "00462208" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463841" "00462209" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463842" "00462210" "1" "00006" "00006" "2025-02-01 10:13:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463843" "00462211" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463844" "00462212" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463845" "00462213" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463846" "00462214" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463847" "00462215" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463848" "00462216" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463849" "00462217" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463850" "00462218" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463851" "00462219" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463852" "00462220" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463853" "00462221" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463854" "00462222" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463855" "00462223" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463856" "00462224" "1" "00006" "00006" "2025-02-01 10:30:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 57 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000281273" "0" "30" "14" "31570520" "31570520" "subst" "0.000268336" "02325" "HECTD1_000001" "g.31570520G>A" "" "" "" "HECTD1(NM_015382.4):c.7561C>T (p.L2521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31101314G>A" "" "likely benign" "" "0000283408" "0" "50" "14" "31589034" "31589034" "subst" "0" "02329" "HECTD1_000003" "g.31589034T>A" "" "" "" "HECTD1(NM_015382.4):c.5277A>T (p.R1759S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31119828T>A" "" "VUS" "" "0000288996" "0" "50" "14" "31626474" "31626474" "subst" "0" "01943" "HECTD1_000005" "g.31626474T>C" "" "" "" "HECTD1(NM_015382.4):c.1658A>G (p.H553R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31157268T>C" "" "VUS" "" "0000288997" "0" "50" "14" "31613440" "31613440" "subst" "0" "01943" "HECTD1_000004" "g.31613440C>T" "" "" "" "HECTD1(NM_015382.4):c.2655G>A (p.W885*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31144234C>T" "" "VUS" "" "0000323642" "0" "50" "14" "31570536" "31570536" "subst" "0.000216" "01804" "HECTD1_000002" "g.31570536A>G" "" "" "" "HECTD1(NM_015382.2):c.7551-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31101330A>G" "" "VUS" "" "0000341264" "0" "30" "14" "31581629" "31581629" "subst" "3.10948E-5" "02327" "HECTD1_000006" "g.31581629C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31112423C>T" "" "likely benign" "" "0000552505" "0" "50" "14" "31578638" "31578638" "subst" "0.00034118" "02325" "HECTD1_000007" "g.31578638T>G" "" "" "" "HECTD1(NM_015382.4):c.6445A>C (p.M2149L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31109432T>G" "" "VUS" "" "0000552506" "0" "30" "14" "31583172" "31583172" "subst" "0.000101633" "02325" "HECTD1_000008" "g.31583172C>T" "" "" "" "HECTD1(NM_015382.4):c.5767G>A (p.A1923T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31113966C>T" "" "likely benign" "" "0000552507" "0" "50" "14" "31598447" "31598447" "subst" "4.06392E-6" "02325" "HECTD1_000009" "g.31598447C>A" "" "" "" "HECTD1(NM_015382.4):c.4130G>T (p.G1377V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31129241C>A" "" "VUS" "" "0000552508" "0" "50" "14" "31642809" "31642809" "subst" "8.17033E-6" "02327" "HECTD1_000010" "g.31642809A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31173603A>C" "" "VUS" "" "0000614950" "0" "30" "14" "31581753" "31581753" "subst" "0.000216459" "02325" "HECTD1_000011" "g.31581753C>T" "" "" "" "HECTD1(NM_015382.4):c.6151-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31112547C>T" "" "likely benign" "" "0000614951" "0" "50" "14" "31590599" "31590599" "subst" "0.00148712" "02325" "HECTD1_000012" "g.31590599A>G" "" "" "" "HECTD1(NM_015382.4):c.5228T>C (p.I1743T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31121393A>G" "" "VUS" "" "0000614952" "0" "50" "14" "31592179" "31592179" "subst" "0" "02325" "HECTD1_000013" "g.31592179C>T" "" "" "" "HECTD1(NM_015382.4):c.5056G>A (p.E1686K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31122973C>T" "" "VUS" "" "0000614953" "0" "50" "14" "31598025" "31598025" "subst" "0.00010984" "02325" "HECTD1_000014" "g.31598025C>A" "" "" "" "HECTD1(NM_015382.4):c.4552G>T (p.V1518L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31128819C>A" "" "VUS" "" "0000679971" "0" "30" "14" "31619290" "31619290" "subst" "0.00460579" "01943" "HECTD1_000015" "g.31619290A>G" "" "" "" "HECTD1(NM_015382.4):c.2070T>C (p.S690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691650" "0" "50" "14" "31592119" "31592119" "subst" "0" "01943" "HECTD1_000016" "g.31592119C>T" "" "" "" "HECTD1(NM_015382.4):c.5115+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691651" "0" "30" "14" "31592237" "31592237" "subst" "4.07864E-6" "01943" "HECTD1_000017" "g.31592237G>A" "" "" "" "HECTD1(NM_015382.4):c.4998C>T (p.C1666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691652" "0" "50" "14" "31617968" "31617968" "subst" "0.000626215" "01943" "HECTD1_000018" "g.31617968C>A" "" "" "" "HECTD1(NM_015382.4):c.2455G>T (p.G819C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806392" "0" "50" "14" "31578761" "31578761" "subst" "4.0627E-6" "02325" "HECTD1_000019" "g.31578761G>A" "" "" "" "HECTD1(NM_015382.4):c.6322C>T (p.R2108*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806393" "0" "50" "14" "31597857" "31597857" "subst" "1.21911E-5" "02325" "HECTD1_000020" "g.31597857T>G" "" "" "" "HECTD1(NM_015382.4):c.4720A>C (p.N1574H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806394" "0" "50" "14" "31598375" "31598375" "subst" "8.12922E-6" "02325" "HECTD1_000021" "g.31598375G>A" "" "" "" "HECTD1(NM_015382.4):c.4202C>T (p.S1401L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853824" "0" "50" "14" "31578733" "31578733" "subst" "8.12328E-6" "02325" "HECTD1_000022" "g.31578733C>T" "" "" "" "HECTD1(NM_015382.4):c.6350G>A (p.R2117Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853825" "0" "30" "14" "31611095" "31611095" "subst" "8.5623E-6" "01943" "HECTD1_000024" "g.31611095T>C" "" "" "" "HECTD1(NM_015382.4):c.2842A>G (p.T948A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863552" "0" "50" "14" "31598406" "31598406" "subst" "0.000121906" "01943" "HECTD1_000023" "g.31598406C>T" "" "" "" "HECTD1(NM_015382.4):c.4171G>A (p.V1391M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000970" "0" "50" "14" "31582572" "31582572" "subst" "3.65663E-5" "01804" "HECTD1_000025" "g.31582572T>C" "" "" "" "HECTD1(NM_015382.2):c.5975A>G (p.(Gln1992Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000971" "0" "50" "14" "31583195" "31583195" "subst" "4.06421E-6" "01804" "HECTD1_000026" "g.31583195G>C" "" "" "" "HECTD1(NM_015382.2):c.5744C>G (p.(Thr1915Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000972" "0" "50" "14" "31598314" "31598314" "subst" "0" "01804" "HECTD1_000027" "g.31598314A>T" "" "" "" "HECTD1(NM_015382.2):c.4263T>A (p.(Asp1421Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000973" "0" "50" "14" "31602711" "31602711" "subst" "0" "01804" "HECTD1_000028" "g.31602711T>C" "" "" "" "HECTD1(NM_015382.2):c.3745+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001023874" "0" "70" "14" "31675003" "31675003" "subst" "0" "00006" "HECTD1_000054" "g.31675003G>A" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31205797G>A" "" "likely pathogenic (dominant)" "" "0001023875" "0" "70" "14" "31642906" "31642906" "subst" "0" "00006" "HECTD1_000052" "g.31642906A>G" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "De novo" "" "" "0" "" "" "g.31173700A>G" "" "likely pathogenic (dominant)" "" "0001023876" "0" "70" "14" "31642407" "31642407" "subst" "0" "00006" "HECTD1_000049" "g.31642407G>C" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "De novo" "" "" "0" "" "" "g.31173201G>C" "" "likely pathogenic (dominant)" "" "0001023877" "0" "70" "14" "31619278" "31619278" "subst" "0" "00006" "HECTD1_000047" "g.31619278G>C" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "De novo" "" "" "0" "" "" "g.31150072G>C" "" "likely pathogenic (dominant)" "" "0001023878" "0" "70" "14" "31604310" "31604310" "subst" "0" "00006" "HECTD1_000042" "g.31604310C>T" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "De novo" "" "" "0" "" "" "g.31135104C>T" "" "likely pathogenic (dominant)" "" "0001023879" "0" "70" "14" "31604306" "31604306" "subst" "0" "00006" "HECTD1_000041" "g.31604306A>G" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "De novo" "" "" "0" "" "" "g.31135100A>G" "" "likely pathogenic (dominant)" "" "0001023880" "0" "70" "14" "31602751" "31602751" "subst" "0" "00006" "HECTD1_000039" "g.31602751A>T" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "De novo" "" "" "0" "" "" "g.31133545A>T" "" "likely pathogenic (dominant)" "" "0001023881" "0" "70" "14" "31598583" "31598583" "subst" "0" "00006" "HECTD1_000037" "g.31598583G>A" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "De novo" "" "" "0" "" "" "g.31129377G>A" "" "likely pathogenic (dominant)" "" "0001023882" "0" "70" "14" "31575943" "31575943" "subst" "0" "00006" "HECTD1_000030" "g.31575943G>A" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "De novo" "" "" "0" "" "" "g.31106737G>A" "" "likely pathogenic (dominant)" "" "0001023883" "0" "70" "14" "31638678" "31638680" "del" "0" "00006" "HECTD1_000048" "g.31638678_31638680del" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "De novo" "" "" "0" "" "" "g.31169472_31169474del" "" "likely pathogenic (dominant)" "" "0001023884" "0" "70" "14" "31618174" "31618174" "dup" "0" "00006" "HECTD1_000046" "g.31618174dup" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31148968dup" "" "likely pathogenic (dominant)" "" "0001023885" "0" "70" "14" "31602790" "31602790" "subst" "0" "00006" "HECTD1_000040" "g.31602790C>A" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "De novo" "" "" "0" "" "" "g.31133584C>A" "" "likely pathogenic (dominant)" "" "0001023886" "0" "70" "14" "31572240" "31572240" "dup" "0" "00006" "HECTD1_000029" "g.31572240dup" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31103034dup" "" "likely pathogenic (dominant)" "" "0001023887" "1" "70" "14" "31576855" "31576855" "del" "0" "00006" "HECTD1_000032" "g.31576855del" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "6536delC" "" "Germline" "" "" "0" "" "" "g.31107649del" "" "likely pathogenic (dominant)" "" "0001023888" "2" "70" "14" "31644244" "31644244" "subst" "0" "00006" "HECTD1_000053" "g.31644244T>C" "" "{PMID:Zerafati-Jahromi 2025:39879987}" "" "" "" "Germline" "" "" "0" "" "" "g.31175038T>C" "" "likely pathogenic (dominant)" "" "0001023890" "0" "70" "14" "31576008" "31576008" "subst" "0" "00006" "HECTD1_000031" "g.31576008G>C" "" "{PMID:Homsy 2015:26785492}" "" "" "" "De novo" "" "" "0" "" "" "g.31106802G>C" "" "likely pathogenic (dominant)" "" "0001023891" "0" "70" "14" "31576891" "31576891" "subst" "0" "00006" "HECTD1_000033" "g.31576891T>C" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31107685T>C" "" "likely pathogenic (dominant)" "" "0001023892" "0" "70" "14" "31578713" "31578713" "subst" "0" "00006" "HECTD1_000034" "g.31578713G>A" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31109507G>A" "" "likely pathogenic (dominant)" "" "0001023893" "0" "70" "14" "31581629" "31581629" "subst" "3.10948E-5" "00006" "HECTD1_000006" "g.31581629C>T" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31112423C>T" "" "likely pathogenic (dominant)" "" "0001023894" "0" "70" "14" "31582596" "31582596" "subst" "0" "00006" "HECTD1_000035" "g.31582596G>A" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31113390G>A" "" "likely pathogenic (dominant)" "" "0001023895" "0" "70" "14" "31590600" "31590600" "subst" "4.87595E-5" "00006" "HECTD1_000036" "g.31590600T>C" "" "{PMID:Zhou 2022:35982159}" "" "" "" "De novo" "" "" "0" "" "" "g.31121394T>C" "" "likely pathogenic (dominant)" "" "0001023896" "0" "70" "14" "31598025" "31598025" "subst" "0.00010984" "00006" "HECTD1_000014" "g.31598025C>A" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31128819C>A" "" "likely pathogenic (dominant)" "" "0001023897" "0" "70" "14" "31602527" "31602527" "subst" "0" "00006" "HECTD1_000038" "g.31602527A>C" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31133321A>C" "" "likely pathogenic (dominant)" "" "0001023898" "0" "70" "14" "31605783" "31605783" "subst" "0" "00006" "HECTD1_000043" "g.31605783T>C" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31136577T>C" "" "likely pathogenic (dominant)" "" "0001023899" "0" "70" "14" "31613331" "31613331" "dup" "0" "00006" "HECTD1_000044" "g.31613331dup" "" "{PMID:Iossifov 2014:25363768}" "" "" "" "De novo" "" "" "0" "" "" "g.31144125dup" "" "likely pathogenic (dominant)" "" "0001023900" "0" "70" "14" "31613451" "31613451" "subst" "0" "00006" "HECTD1_000045" "g.31613451C>G" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31144245C>G" "" "likely pathogenic (dominant)" "" "0001023901" "0" "70" "14" "31642445" "31642445" "subst" "0" "00006" "HECTD1_000050" "g.31642445G>A" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31173239G>A" "" "likely pathogenic (dominant)" "" "0001023902" "0" "70" "14" "31642744" "31642744" "subst" "2.04027E-5" "00006" "HECTD1_000051" "g.31642744G>A" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31173538G>A" "" "likely pathogenic (dominant)" "" "0001023903" "0" "70" "14" "31642906" "31642906" "subst" "0" "00006" "HECTD1_000052" "g.31642906A>G" "" "{PMID:Kaplanis 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.31173700A>G" "" "likely pathogenic (dominant)" "" ## 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 HECTD1 ## Count = 57 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000281273" "00009243" "30" "7561" "0" "7561" "0" "c.7561C>T" "r.(?)" "p.(Leu2521=)" "" "0000283408" "00009243" "50" "5277" "0" "5277" "0" "c.5277A>T" "r.(?)" "p.(Arg1759Ser)" "" "0000288996" "00009243" "50" "1658" "0" "1658" "0" "c.1658A>G" "r.(?)" "p.(His553Arg)" "" "0000288997" "00009243" "50" "2655" "0" "2655" "0" "c.2655G>A" "r.(?)" "p.(Trp885Ter)" "" "0000323642" "00009243" "50" "7551" "-6" "7551" "-6" "c.7551-6T>C" "r.(=)" "p.(=)" "" "0000341264" "00009243" "30" "6271" "0" "6271" "0" "c.6271G>A" "r.(?)" "p.(Ala2091Thr)" "" "0000552505" "00009243" "50" "6445" "0" "6445" "0" "c.6445A>C" "r.(?)" "p.(Met2149Leu)" "" "0000552506" "00009243" "30" "5767" "0" "5767" "0" "c.5767G>A" "r.(?)" "p.(Ala1923Thr)" "" "0000552507" "00009243" "50" "4130" "0" "4130" "0" "c.4130G>T" "r.(?)" "p.(Gly1377Val)" "" "0000552508" "00009243" "50" "807" "0" "807" "0" "c.807T>G" "r.(?)" "p.(Asp269Glu)" "" "0000614950" "00009243" "30" "6151" "-4" "6151" "-4" "c.6151-4G>A" "r.spl?" "p.?" "" "0000614951" "00009243" "50" "5228" "0" "5228" "0" "c.5228T>C" "r.(?)" "p.(Ile1743Thr)" "" "0000614952" "00009243" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Glu1686Lys)" "" "0000614953" "00009243" "50" "4552" "0" "4552" "0" "c.4552G>T" "r.(?)" "p.(Val1518Leu)" "" "0000679971" "00009243" "30" "2070" "0" "2070" "0" "c.2070T>C" "r.(?)" "p.(Ser690=)" "" "0000691650" "00009243" "50" "5115" "1" "5115" "1" "c.5115+1G>A" "r.spl?" "p.?" "" "0000691651" "00009243" "30" "4998" "0" "4998" "0" "c.4998C>T" "r.(?)" "p.(Cys1666=)" "" "0000691652" "00009243" "50" "2455" "0" "2455" "0" "c.2455G>T" "r.(?)" "p.(Gly819Cys)" "" "0000806392" "00009243" "50" "6322" "0" "6322" "0" "c.6322C>T" "r.(?)" "p.(Arg2108*)" "" "0000806393" "00009243" "50" "4720" "0" "4720" "0" "c.4720A>C" "r.(?)" "p.(Asn1574His)" "" "0000806394" "00009243" "50" "4202" "0" "4202" "0" "c.4202C>T" "r.(?)" "p.(Ser1401Leu)" "" "0000853824" "00009243" "50" "6350" "0" "6350" "0" "c.6350G>A" "r.(?)" "p.(Arg2117Gln)" "" "0000853825" "00009243" "30" "2842" "0" "2842" "0" "c.2842A>G" "r.(?)" "p.(Thr948Ala)" "" "0000863552" "00009243" "50" "4171" "0" "4171" "0" "c.4171G>A" "r.(?)" "p.(Val1391Met)" "" "0001000970" "00009243" "50" "5975" "0" "5975" "0" "c.5975A>G" "r.(?)" "p.(Gln1992Arg)" "" "0001000971" "00009243" "50" "5744" "0" "5744" "0" "c.5744C>G" "r.(?)" "p.(Thr1915Ser)" "" "0001000972" "00009243" "50" "4263" "0" "4263" "0" "c.4263T>A" "r.(?)" "p.(Asp1421Glu)" "" "0001000973" "00009243" "50" "3745" "4" "3745" "4" "c.3745+4A>G" "r.spl?" "p.?" "" "0001023874" "00009243" "70" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Thr47Ile)" "" "0001023875" "00009243" "70" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Leu237Ser)" "" "0001023876" "00009243" "70" "1111" "0" "1111" "0" "c.1111C>G" "r.(?)" "p.(Arg371Gly)" "" "0001023877" "00009243" "70" "2082" "0" "2082" "0" "c.2082C>G" "r.(?)" "p.(Phe694Leu)" "" "0001023878" "00009243" "70" "3346" "0" "3346" "0" "c.3346G>A" "r.(?)" "p.(Asp1116Asn)" "" "0001023879" "00009243" "70" "3350" "0" "3350" "0" "c.3350T>C" "r.(?)" "p.(Ile1117Thr)" "" "0001023880" "00009243" "70" "3709" "0" "3709" "0" "c.3709T>A" "r.(?)" "p.(Tyr1237Asn)" "" "0001023881" "00009243" "70" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Leu1332Phe)" "" "0001023882" "00009243" "70" "7135" "0" "7135" "0" "c.7135C>T" "r.(?)" "p.(Leu2379Phe)" "" "0001023883" "00009243" "70" "1333" "-6" "1333" "-4" "c.1333-6_1333-4del" "r.spl" "p.?" "" "0001023884" "00009243" "70" "2349" "0" "2349" "0" "c.2349dup" "r.(?)" "p.(Asp784ArgfsTer8)" "" "0001023885" "00009243" "70" "3670" "0" "3670" "0" "c.3670G>T" "r.(?)" "p.(Gly1224Ter)" "" "0001023886" "00009243" "70" "7433" "0" "7433" "0" "c.7433dup" "r.(?)" "p.(Leu2478PhefsTer7)" "" "0001023887" "00009243" "70" "6536" "0" "6536" "0" "c.6536del" "r.(?)" "p.(Ala2179ValfsTer35)" "" "0001023888" "00009243" "10" "476" "0" "476" "0" "c.476A>G" "r.(?)" "p.(His159Arg)" "" "0001023890" "00009243" "70" "7070" "0" "7070" "0" "c.7070C>G" "r.(?)" "p.(Ala2357Gly)" "" "0001023891" "00009243" "70" "6500" "0" "6500" "0" "c.6500A>G" "r.(?)" "p.(Glu2167Gly)" "" "0001023892" "00009243" "70" "6370" "0" "6370" "0" "c.6370C>T" "r.(?)" "p.(Arg2124Ter)" "" "0001023893" "00009243" "70" "6271" "0" "6271" "0" "c.6271G>A" "r.(?)" "p.(Ala2091Thr)" "" "0001023894" "00009243" "70" "5951" "0" "5951" "0" "c.5951C>T" "r.(?)" "p.(Pro1984Leu)" "" "0001023895" "00009243" "70" "5227" "0" "5227" "0" "c.5227A>G" "r.(?)" "p.(Ile1743Val)" "" "0001023896" "00009243" "70" "4552" "0" "4552" "0" "c.4552G>T" "r.(?)" "p.(Val1518Leu)" "" "0001023897" "00009243" "70" "3839" "0" "3839" "0" "c.3839T>G" "r.(?)" "p.(Val1280Gly)" "" "0001023898" "00009243" "70" "3068" "0" "3068" "0" "c.3068A>G" "r.(?)" "p.(Glu1023Gly)" "" "0001023899" "00009243" "70" "2764" "0" "2764" "0" "c.2764dup" "r.(?)" "p.(Thr922AsnfsTer6)" "" "0001023900" "00009243" "70" "2644" "0" "2644" "0" "c.2644G>C" "r.(?)" "p.(Glu882Gln)" "" "0001023901" "00009243" "70" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Ser358Phe)" "" "0001023902" "00009243" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "" "0001023903" "00009243" "70" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Leu237Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000463829" "0001023874" "0000463830" "0001023875" "0000463831" "0001023876" "0000463832" "0001023877" "0000463833" "0001023878" "0000463834" "0001023879" "0000463835" "0001023880" "0000463836" "0001023881" "0000463837" "0001023882" "0000463838" "0001023883" "0000463839" "0001023884" "0000463840" "0001023885" "0000463841" "0001023886" "0000463842" "0001023887" "0000463842" "0001023888" "0000463843" "0001023890" "0000463844" "0001023891" "0000463845" "0001023892" "0000463846" "0001023893" "0000463847" "0001023894" "0000463848" "0001023895" "0000463849" "0001023896" "0000463850" "0001023897" "0000463851" "0001023898" "0000463852" "0001023899" "0000463853" "0001023900" "0000463854" "0001023901" "0000463855" "0001023902" "0000463856" "0001023903"