### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAH1) # 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}}" "DNAH1" "dynein, axonemal, heavy chain 1" "3" "p21-p14" "unknown" "NG_052911.1" "UD_136065563117" "" "https://www.LOVD.nl/DNAH1" "" "1" "2940" "25981" "603332" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DNAH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-22 15:38:52" "00006" "2025-11-07 15:53:58" ## 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}}" "00006516" "DNAH1" "dynein, axonemal, heavy chain 1" "001" "NM_015512.4" "" "NP_056327.4" "" "" "" "-261" "12849" "12798" "52350335" "52434513" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "05561" "SPGF18" "spermatogenic failure, type 18 (SPGF18)" "AR" "617576" "" "autosomal recessive" "" "00006" "2019-02-13 21:59:39" "00006" "2021-10-22 15:37:15" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "05980" "CILD37" "dyskinesia, ciliary, primary, type 37 (CILD37)" "AR" "617577" "" "" "" "00006" "2021-10-22 15:38:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "DNAH1" "00332" "DNAH1" "05561" "DNAH1" "05562" "DNAH1" "05980" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00225398" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "Tunisia" "29449551-PatDNAH1-1" "00225399" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "Tunisia" "29449551-PatDNAH1-2" "00225400" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "Tunisia" "29449551-PatDNAH1-3" "00225401" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "Portugal" "29449551-PatDNAH1-4" "00225402" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "France" "" "0" "" "" "" "30686508-PatDNAH1-5" "00225403" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "" "" "0" "" "" "Iran" "30686508-PatDNAH1-6" "00225404" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "" "" "0" "" "" "Iran" "30686508-PatDNAH1-7" "00225405" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "" "" "0" "" "" "Tunisia" "30686508-PatDNAH1-8" "00225406" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "" "" "0" "" "" "Tunisia" "30686508-PatDNAH1-9" "00225407" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "" "" "0" "" "" "Tunisia" "30686508-PatDNAH1-10" "00225428" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "" "29449551-DNAH1-5" "00273168" "" "" "" "1" "" "02061" "" "" "M" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00293438" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293439" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293440" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293441" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293442" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293443" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293444" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293445" "" "" "" "107" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304956" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00386400" "" "" "" "1" "" "00006" "{DOI:Liu 2021:10.1089/gtmb.2020.0303}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00462359" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462360" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462361" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00468253" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "non-Hispanic;black" "LAT1663" "00468256" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "LAT1031" "00468261" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "LAT0015" "00468264" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "Hispanic;white" "GMKF_3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00225398" "05562" "00225399" "05562" "00225400" "05562" "00225401" "05562" "00225402" "05562" "00225403" "05562" "00225404" "05562" "00225405" "05562" "00225406" "05562" "00225407" "05562" "00225428" "05562" "00273168" "00291" "00293438" "00198" "00293439" "00198" "00293440" "00198" "00293441" "00198" "00293442" "00198" "00293443" "00198" "00293444" "00198" "00293445" "00198" "00304956" "00198" "00386400" "05370" "00462359" "00332" "00462360" "00332" "00462361" "00332" "00468253" "00198" "00468256" "00198" "00468261" "00198" "00468264" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00291, 00332, 05370, 05561, 05562, 05980 ## Count = 19 "{{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}}" "0000170515" "05562" "00225398" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "" "male fertility" "" "0000170516" "05562" "00225399" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "" "male fertility" "" "0000170517" "05562" "00225400" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "" "male fertility" "" "0000170518" "05562" "00225401" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "" "male fertility" "" "0000170519" "05562" "00225402" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "" "male fertility" "" "0000170520" "05562" "00225403" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "" "male fertility" "" "0000170521" "05562" "00225404" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "" "male fertility" "" "0000170522" "05562" "00225405" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "" "male fertility" "" "0000170523" "05562" "00225406" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "" "male fertility" "" "0000170524" "05562" "00225407" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "" "male fertility" "" "0000170545" "05562" "00225428" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "male infertility" "" "0000280207" "05370" "00386400" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., primary ovarian insufficiency, normal menstrual cycle, elevated FSH plasma levels around the postmenopausal range, normal antral follicle count, normal anti-Müllerian hormone levels; after two failed ovulation cycles, became pregnant in the third IVF cycle and delivered a healthy girl at term" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000349858" "00332" "00462359" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349859" "00332" "00462360" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349860" "00332" "00462361" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000353405" "00198" "00468253" "00006" "Di-genic" "" "see paper; ..., tricuspid atresia, double outlet right ventricle, levo-malposed great arteries; atrial situs solitus; right ventricular situs; left arterial situs; complex tricuspid atresia" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" "0000353408" "00198" "00468256" "00006" "Di-genic" "" "see paper; ..., dextro-transposition great arteries; atrial situs solitus; right ventricular situs; right arterial situs; dextro-transposition great arteries" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" "0000353413" "00198" "00468261" "00006" "Di-genic" "" "see paper; ..., heterotaxy, RAI, unbalanced common atrioventricular septal defect, double outlet right ventricle with dextro-malposed great arteries, pulmonary stenosis, Subpulmonary stenosis; atrial situs ambiguus; right ventricular situs; right arterial situs; heterotaxy (left atrial isomerism)" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" "0000353416" "00198" "00468264" "00006" "Di-genic" "" "see paper; ..., dextro-transposition great arteries, pulmonary stenosis, left superior vena cava connecting to the coronary sinus; atrial situs solitus; right ventricular situs; right arterial situs; dextro-transposition great arteries" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000226477" "00225398" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226478" "00225399" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226479" "00225400" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226480" "00225401" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226481" "00225402" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226482" "00225403" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226483" "00225404" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226484" "00225405" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226485" "00225406" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226486" "00225407" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226507" "00225428" "1" "00006" "00006" "2019-02-15 21:55:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000274323" "00273168" "1" "02061" "02061" "2019-12-20 18:08:52" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000294606" "00293438" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294607" "00293439" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294608" "00293440" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294609" "00293441" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294610" "00293442" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294611" "00293443" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294612" "00293444" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294613" "00293445" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306085" "00304956" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000387628" "00386400" "1" "00006" "00006" "2021-10-22 15:34:32" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000463991" "00462359" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463992" "00462360" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463993" "00462361" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000469919" "00468253" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469922" "00468256" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469927" "00468261" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469930" "00468264" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000226477" "DNAH1" "0000226478" "DNAH1" "0000226479" "DNAH1" "0000226480" "DNAH1" "0000226481" "DNAH1" "0000226482" "DNAH1" "0000226483" "DNAH1" "0000226484" "DNAH1" "0000226485" "DNAH1" "0000226486" "DNAH1" "0000226507" "DNAH1" "0000387628" "DNAH1" ## 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 = 173 "{{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}}" "0000249645" "0" "90" "3" "52437631" "52437631" "del" "0" "02325" "BAP1_000005" "g.52437631del" "" "" "" "BAP1(NM_004656.4):c.1530delT (p.I511Sfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403615del" "" "pathogenic" "" "0000249987" "0" "30" "3" "52437424" "52437424" "subst" "0.00346354" "02329" "BAP1_000004" "g.52437424A>G" "" "" "" "BAP1(NM_004656.2):c.1729+8T>C, BAP1(NM_004656.3):c.1729+8T>C (p.(=)), BAP1(NM_004656.4):c.1729+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403408A>G" "" "likely benign" "" "0000250091" "0" "10" "3" "52437748" "52437748" "subst" "0.0048507" "02329" "BAP1_000030" "g.52437748A>C" "" "" "" "BAP1(NM_004656.4):c.1413T>G (p.A471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403732A>C" "" "benign" "" "0000250399" "0" "30" "3" "52437734" "52437734" "subst" "7.31362E-5" "02329" "BAP1_000006" "g.52437734A>G" "" "" "" "BAP1(NM_004656.4):c.1427T>C (p.V476A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403718A>G" "" "likely benign" "" "0000254078" "0" "30" "3" "52437424" "52437424" "subst" "0.00346354" "01943" "BAP1_000004" "g.52437424A>G" "" "" "" "BAP1(NM_004656.2):c.1729+8T>C, BAP1(NM_004656.3):c.1729+8T>C (p.(=)), BAP1(NM_004656.4):c.1729+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403408A>G" "" "likely benign" "" "0000259583" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "02325" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405200G>A" "" "likely benign" "" "0000259709" "0" "50" "3" "52437774" "52437774" "subst" "0" "02325" "BAP1_000008" "g.52437774G>C" "" "" "" "BAP1(NM_004656.4):c.1387C>G (p.L463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403758G>C" "" "VUS" "" "0000260327" "0" "10" "3" "52439240" "52439240" "subst" "0.00592893" "02329" "BAP1_000011" "g.52439240T>C" "" "" "" "BAP1(NM_004656.2):c.1002A>G (p.L334=), BAP1(NM_004656.3):c.1002A>G (p.(Leu334=)), BAP1(NM_004656.4):c.1002A>G (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405224T>C" "" "benign" "" "0000260328" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "02329" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405200G>A" "" "likely benign" "" "0000260329" "0" "30" "3" "52439168" "52439168" "subst" "4.06095E-6" "02329" "BAP1_000009" "g.52439168C>T" "" "" "" "BAP1(NM_004656.4):c.1074G>A (p.P358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405152C>T" "" "likely benign" "" "0000260330" "0" "30" "3" "52437754" "52437754" "subst" "8.93808E-5" "02329" "BAP1_000007" "g.52437754G>A" "" "" "" "BAP1(NM_004656.2):c.1407C>T (p.S469=), BAP1(NM_004656.3):c.1407C>T (p.(Ser469=)), BAP1(NM_004656.4):c.1407C>T (p.S469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403738G>A" "" "likely benign" "" "0000260331" "0" "10" "3" "52437258" "52437258" "subst" "0.00579549" "02329" "BAP1_000003" "g.52437258T>C" "" "" "" "BAP1(NM_004656.4):c.1786A>G (p.S596G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403242T>C" "" "benign" "" "0000260332" "0" "10" "3" "52436441" "52436441" "subst" "0.00454593" "02329" "BAP1_000001" "g.52436441C>A" "" "" "" "BAP1(NM_004656.3):c.2057-4G>T (p.?), BAP1(NM_004656.4):c.2057-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52402425C>A" "" "benign" "" "0000263540" "0" "10" "3" "52439240" "52439240" "subst" "0.00592893" "01943" "BAP1_000011" "g.52439240T>C" "" "" "" "BAP1(NM_004656.2):c.1002A>G (p.L334=), BAP1(NM_004656.3):c.1002A>G (p.(Leu334=)), BAP1(NM_004656.4):c.1002A>G (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405224T>C" "" "benign" "" "0000263541" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "01943" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405200G>A" "" "likely benign" "" "0000275168" "0" "30" "3" "52392595" "52392595" "subst" "0.000206351" "01943" "DNAH1_000007" "g.52392595G>A" "" "" "" "DNAH1(NM_015512.4):c.4108G>A (p.E1370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52358579G>A" "" "likely benign" "" "0000275169" "0" "30" "3" "52360241" "52360241" "subst" "0" "01943" "DNAH1_000002" "g.52360241T>C" "" "" "" "DNAH1(NM_015512.4):c.492T>C (p.T164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52326225T>C" "" "likely benign" "" "0000329439" "0" "50" "3" "52387190" "52387190" "subst" "0" "01804" "DNAH1_000005" "g.52387190G>C" "" "" "" "DNAH1(NM_015512.4):c.3099G>C (p.(Trp1033Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52353174G>C" "" "VUS" "" "0000329440" "0" "30" "3" "52391648" "52391648" "subst" "0.000208611" "01804" "DNAH1_000006" "g.52391648G>A" "" "" "" "DNAH1(NM_015512.4):c.3877G>A (p.(Asp1293Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52357632G>A" "" "likely benign" "" "0000329441" "0" "50" "3" "52400485" "52400485" "subst" "4.08719E-5" "01804" "DNAH1_000008" "g.52400485A>G" "" "" "" "DNAH1(NM_015512.4):c.5531A>G (p.(Lys1844Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52366469A>G" "" "VUS" "" "0000329442" "0" "30" "3" "52420315" "52420315" "subst" "0.0022287" "01804" "DNAH1_000009" "g.52420315C>T" "" "" "" "DNAH1(NM_015512.4):c.8765C>T (p.A2922V, p.(Ala2922Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52386299C>T" "" "likely benign" "" "0000329443" "0" "30" "3" "52429002" "52429002" "subst" "9.04129E-5" "01804" "DNAH1_000010" "g.52429002G>A" "" "" "" "DNAH1(NM_015512.4):c.10895G>A (p.(Arg3632His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52394986G>A" "" "likely benign" "" "0000338364" "0" "10" "3" "52437424" "52437424" "subst" "0.00346354" "02327" "BAP1_000004" "g.52437424A>G" "" "" "" "BAP1(NM_004656.2):c.1729+8T>C, BAP1(NM_004656.3):c.1729+8T>C (p.(=)), BAP1(NM_004656.4):c.1729+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403408A>G" "" "benign" "" "0000340226" "0" "30" "3" "52439240" "52439240" "subst" "0.00592893" "02327" "BAP1_000011" "g.52439240T>C" "" "" "" "BAP1(NM_004656.2):c.1002A>G (p.L334=), BAP1(NM_004656.3):c.1002A>G (p.(Leu334=)), BAP1(NM_004656.4):c.1002A>G (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405224T>C" "" "likely benign" "" "0000345483" "0" "70" "3" "52437432" "52437432" "subst" "0" "02327" "BAP1_000021" "g.52437432C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403416C>T" "" "likely pathogenic" "" "0000346791" "0" "50" "3" "52436378" "52436378" "subst" "0" "02327" "BAP1_000019" "g.52436378T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52402362T>C" "" "VUS" "" "0000458724" "3" "90" "3" "52414074" "52414074" "del" "0" "00006" "DNAH1_000011" "g.52414074del" "1/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "7531delC" "" "Germline" "" "" "0" "" "" "g.52380058del" "" "pathogenic (recessive)" "" "0000458725" "3" "90" "3" "52382924" "52382924" "dup" "0" "00006" "DNAH1_000012" "g.52382924dup" "1/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "2127dupC" "" "Germline" "" "" "0" "" "" "g.52348908dup" "" "pathogenic (recessive)" "" "0000458726" "3" "90" "3" "52395238" "52395246" "del" "0" "00006" "DNAH1_000013" "g.52395238_52395246del" "1/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "4744_4752delCCAGCTGGC" "" "Germline" "" "" "0" "" "" "g.52361222_52361230del" "" "pathogenic (recessive)" "" "0000458727" "1" "90" "3" "52394055" "52394055" "subst" "0.0185102" "00006" "DNAH1_000021" "g.52394055G>A" "1/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "" "" "Germline" "" "" "0" "" "" "g.52360039G>A" "" "pathogenic (recessive)" "" "0000458729" "3" "90" "3" "52391702" "52391702" "subst" "0" "00006" "DNAH1_000016" "g.52391702C>T" "1/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "" "" "Germline" "" "" "0" "" "" "g.52357686C>T" "" "pathogenic (recessive)" "" "0000458730" "3" "90" "3" "52423548" "52423548" "del" "0" "00006" "DNAH1_000017" "g.52423548del" "1/167 cases MMAF" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "9567delT" "" "Germline" "" "" "0" "" "" "g.52389532del" "" "pathogenic (recessive)" "" "0000458731" "3" "90" "3" "52420175" "52420175" "subst" "0" "00006" "DNAH1_000020" "g.52420175G>A" "2/167 cases MMAF" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "" "" "Germline" "" "" "0" "" "" "g.52386159G>A" "" "pathogenic (recessive)" "" "0000458732" "3" "90" "3" "52420175" "52420175" "subst" "0" "00006" "DNAH1_000020" "g.52420175G>A" "2/167 cases MMAF" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "" "" "Germline" "" "" "0" "" "" "g.52386159G>A" "" "pathogenic (recessive)" "" "0000458733" "3" "90" "3" "52396406" "52396406" "subst" "0" "00006" "DNAH1_000018" "g.52396406G>A" "1/167 cases MMAF" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "Val1661=" "" "Germline" "" "" "0" "" "" "g.52362390G>A" "" "pathogenic (recessive)" "" "0000458734" "3" "90" "3" "52423603" "52423603" "subst" "0" "00006" "DNAH1_000019" "g.52423603G>C" "1/167 cases MMAF" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "" "" "Germline" "" "" "0" "" "" "g.52389587G>C" "" "pathogenic (recessive)" "" "0000458755" "1" "90" "3" "52409423" "52409423" "subst" "0" "00006" "DNAH1_000014" "g.52409423T>A" "" "{PMID:Coutton 2018:29449551}" "" "" "" "Germline" "" "" "0" "" "" "g.52375407T>A" "" "pathogenic (recessive)" "" "0000458756" "2" "90" "3" "52423486" "52423486" "subst" "0" "00006" "DNAH1_000015" "g.52423486C>G" "" "{PMID:Coutton 2018:29449551}" "" "" "" "Germline" "" "" "0" "" "" "g.52389470C>G" "" "pathogenic (recessive)" "" "0000458757" "2" "90" "3" "52394397" "52394397" "subst" "0" "00006" "DNAH1_000022" "g.52394397C>G" "1/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "" "" "Germline" "" "" "0" "" "" "g.52360381C>G" "" "pathogenic (recessive)" "" "0000520319" "0" "30" "3" "52366211" "52366211" "subst" "0.000122751" "01943" "DNAH1_000023" "g.52366211T>C" "" "" "" "DNAH1(NM_015512.4):c.1087T>C (p.F363L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52332195T>C" "" "likely benign" "" "0000520320" "0" "70" "3" "52387129" "52387132" "dup" "0" "01943" "DNAH1_000024" "g.52387129_52387132dup" "" "" "" "DNAH1(NM_015512.4):c.3038_3041dupTCTC (p.R1015Lfs*19), DNAH1(NM_015512.5):c.3038_3041dupTCTC (p.R1015Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52353113_52353116dup" "" "likely pathogenic" "" "0000520321" "0" "50" "3" "52389033" "52389033" "subst" "4.46991E-5" "01943" "DNAH1_000025" "g.52389033C>T" "" "" "" "DNAH1(NM_015512.4):c.3655C>T (p.R1219C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52355017C>T" "" "VUS" "" "0000520322" "0" "50" "3" "52391672" "52391672" "subst" "0" "01943" "DNAH1_000026" "g.52391672C>T" "" "" "" "DNAH1(NM_015512.4):c.3901C>T (p.R1301W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52357656C>T" "" "VUS" "" "0000520323" "0" "30" "3" "52391959" "52391959" "subst" "0.000195327" "01804" "DNAH1_000027" "g.52391959G>C" "" "" "" "DNAH1(NM_015512.4):c.4026G>C (p.(Gln1342His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52357943G>C" "" "likely benign" "" "0000520325" "0" "50" "3" "52404547" "52404547" "subst" "5.68773E-5" "01943" "DNAH1_000029" "g.52404547C>G" "" "" "" "DNAH1(NM_015512.4):c.6313C>G (p.P2105A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52370531C>G" "" "VUS" "" "0000520326" "0" "50" "3" "52409307" "52409307" "subst" "0.000190182" "01804" "DNAH1_000030" "g.52409307C>T" "" "" "" "DNAH1(NM_015512.4):c.7037C>T (p.(Pro2346Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52375291C>T" "" "VUS" "" "0000520327" "0" "30" "3" "52409413" "52409413" "subst" "0.00360837" "01804" "DNAH1_000031" "g.52409413C>G" "" "" "" "DNAH1(NM_015512.4):c.7143C>G (p.(Ile2381Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52375397C>G" "" "likely benign" "" "0000520330" "0" "50" "3" "52422540" "52422540" "subst" "1.22836E-5" "02329" "DNAH1_000034" "g.52422540C>G" "" "" "" "DNAH1(NM_015512.5):c.9278C>G (p.A3093G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52388524C>G" "" "VUS" "" "0000520331" "0" "50" "3" "52424975" "52424975" "subst" "0.000677445" "01943" "DNAH1_000035" "g.52424975C>G" "" "" "" "DNAH1(NM_015512.4):c.9646C>G (p.L3216V), DNAH1(NM_015512.5):c.9646C>G (p.(Leu3216Val), p.L3216V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52390959C>G" "" "VUS" "" "0000520333" "0" "30" "3" "52428499" "52428499" "subst" "0" "01943" "DNAH1_000037" "g.52428499C>T" "" "" "" "DNAH1(NM_015512.4):c.10645C>T (p.L3549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52394483C>T" "" "likely benign" "" "0000520334" "0" "50" "3" "52430486" "52430486" "subst" "7.91668E-5" "01804" "DNAH1_000038" "g.52430486G>A" "" "" "" "DNAH1(NM_015512.4):c.11362G>A (p.(Gly3788Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52396470G>A" "" "VUS" "" "0000520335" "0" "50" "3" "52430920" "52430920" "subst" "0" "01943" "DNAH1_000039" "g.52430920G>A" "" "" "" "DNAH1(NM_015512.4):c.11647G>A (p.G3883S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52396904G>A" "" "VUS" "" "0000520336" "0" "30" "3" "52436441" "52436441" "subst" "0.00454593" "02327" "BAP1_000001" "g.52436441C>A" "" "" "" "BAP1(NM_004656.3):c.2057-4G>T (p.?), BAP1(NM_004656.4):c.2057-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402425C>A" "" "likely benign" "" "0000520337" "0" "30" "3" "52436810" "52436810" "subst" "2.03028E-5" "01943" "DNAH1_000040" "g.52436810C>T" "" "" "" "BAP1(NM_004656.2):c.1968G>A (p.K656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402794C>T" "" "likely benign" "" "0000520338" "0" "30" "3" "52436881" "52436881" "subst" "0" "02327" "DNAH1_000041" "g.52436881G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402865G>A" "" "likely benign" "" "0000520340" "0" "90" "3" "52437281" "52437282" "ins" "0" "02327" "DNAH1_000042" "g.52437281_52437282insAATTG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403265_52403266insAATTG" "" "pathogenic" "" "0000520341" "0" "30" "3" "52437424" "52437424" "subst" "0.00346354" "01804" "BAP1_000004" "g.52437424A>G" "" "" "" "BAP1(NM_004656.2):c.1729+8T>C, BAP1(NM_004656.3):c.1729+8T>C (p.(=)), BAP1(NM_004656.4):c.1729+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403408A>G" "" "likely benign" "" "0000520342" "0" "10" "3" "52437748" "52437748" "subst" "0.0048507" "02327" "BAP1_000030" "g.52437748A>C" "" "" "" "BAP1(NM_004656.4):c.1413T>G (p.A471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403732A>C" "" "benign" "" "0000520343" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "01804" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52405200G>A" "" "likely benign" "" "0000520344" "0" "30" "3" "52439282" "52439282" "subst" "0.00055658" "02327" "DNAH1_000043" "g.52439282G>A" "" "" "" "BAP1(NM_004656.4):c.960C>T (p.C320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52405266G>A" "" "likely benign" "" "0000608793" "0" "50" "3" "52415806" "52415806" "subst" "0.000184697" "02325" "DNAH1_000048" "g.52415806G>A" "" "" "" "DNAH1(NM_015512.5):c.7759G>A (p.V2587M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52381790G>A" "" "VUS" "" "0000608794" "0" "30" "3" "52436418" "52436418" "subst" "0" "02327" "DNAH1_000049" "g.52436418C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402402C>T" "" "likely benign" "" "0000608795" "0" "30" "3" "52436611" "52436611" "subst" "2.4393E-5" "02327" "DNAH1_000050" "g.52436611C>T" "" "" "" "BAP1(NM_004656.3):c.2056+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402595C>T" "" "likely benign" "" "0000608796" "0" "90" "3" "52436691" "52436691" "subst" "0" "02327" "DNAH1_000051" "g.52436691C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402675C>T" "" "pathogenic" "" "0000608797" "0" "90" "3" "52437263" "52437264" "ins" "0" "02327" "DNAH1_000053" "g.52437263_52437264insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403247_52403248insA" "" "pathogenic" "" "0000608798" "0" "30" "3" "52437753" "52437753" "subst" "6.90686E-5" "02327" "DNAH1_000054" "g.52437753C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403737C>T" "" "likely benign" "" "0000621296" "0" "30" "3" "52360901" "52360901" "subst" "0.000102551" "01943" "DNAH1_000044" "g.52360901A>G" "" "" "" "DNAH1(NM_015512.4):c.732A>G (p.P244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52326885A>G" "" "likely benign" "" "0000621298" "0" "30" "3" "52392579" "52392579" "subst" "0.000105667" "01943" "DNAH1_000046" "g.52392579A>G" "" "" "" "DNAH1(NM_015512.4):c.4092A>G (p.L1364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52358563A>G" "" "likely benign" "" "0000621299" "0" "50" "3" "52407054" "52407054" "subst" "0" "01943" "DNAH1_000047" "g.52407054G>A" "" "" "" "DNAH1(NM_015512.4):c.6970G>A (p.D2324N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52373038G>A" "" "VUS" "" "0000621300" "0" "50" "3" "52420315" "52420315" "subst" "0.0022287" "01943" "DNAH1_000009" "g.52420315C>T" "" "" "" "DNAH1(NM_015512.4):c.8765C>T (p.A2922V, p.(Ala2922Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52386299C>T" "" "VUS" "" "0000621301" "0" "30" "3" "52437172" "52437172" "subst" "6.09806E-5" "01943" "DNAH1_000052" "g.52437172C>T" "" "" "" "BAP1(NM_004656.2):c.1872G>A (p.G624=), BAP1(NM_004656.3):c.1872G>A (p.(Gly624=)), BAP1(NM_004656.4):c.1872G>A (p.G624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403156C>T" "" "likely benign" "" "0000628273" "11" "50" "3" "52420720" "52420720" "subst" "0" "02061" "DNAH1_000055" "g.52420720A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52386704A>C" "" "VUS" "" "0000651295" "1" "50" "3" "52380539" "52380539" "subst" "4.07604E-6" "03575" "DNAH1_000056" "g.52380539C>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs184765148}" "Germline" "" "rs184765148" "0" "" "" "g.52346523C>A" "" "VUS" "" "0000651296" "1" "10" "3" "52394055" "52394055" "subst" "0.0185102" "03575" "DNAH1_000021" "g.52394055G>A" "38/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "38 heterozygous; {DB:CLININrs61734638}" "Germline" "" "rs61734638" "0" "" "" "g.52360039G>A" "" "benign" "" "0000651297" "1" "10" "3" "52396410" "52396410" "subst" "0.00752103" "03575" "DNAH1_000057" "g.52396410C>T" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs17052097}" "Germline" "" "rs17052097" "0" "" "" "g.52362394C>T" "" "benign" "" "0000651298" "1" "10" "3" "52414112" "52414112" "subst" "0.0155697" "03575" "DNAH1_000058" "g.52414112C>T" "8/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs73072968}" "Germline" "" "rs73072968" "0" "" "" "g.52380096C>T" "" "benign" "" "0000651299" "1" "10" "3" "52420315" "52420315" "subst" "0.0022287" "03575" "DNAH1_000009" "g.52420315C>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs182141515}" "Germline" "" "rs182141515" "0" "" "" "g.52386299C>T" "" "benign" "" "0000651300" "1" "50" "3" "52427005" "52427005" "subst" "0.000808345" "03575" "DNAH1_000059" "g.52427005A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs143443167}" "Germline" "" "rs143443167" "0" "" "" "g.52392989A>G" "" "VUS" "" "0000651301" "1" "30" "3" "52429022" "52429022" "subst" "0.0012984" "03575" "DNAH1_000060" "g.52429022G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs138940904}" "Germline" "" "rs138940904" "0" "" "" "g.52395006G>A" "" "likely benign" "" "0000651302" "1" "10" "3" "52429665" "52429665" "subst" "0.0373785" "03575" "DNAH1_000061" "g.52429665C>T" "107/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "107 heterozygous, no homozygous; {DB:CLININrs419752}" "Germline" "" "rs419752" "0" "" "" "g.52395649C>T" "" "benign" "" "0000654997" "0" "30" "3" "52387202" "52387202" "subst" "0.00458686" "01943" "DNAH1_000062" "g.52387202G>A" "" "" "" "DNAH1(NM_015512.4):c.3111G>A (p.S1037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52353186G>A" "" "likely benign" "" "0000654998" "0" "30" "3" "52400522" "52400522" "subst" "0" "01943" "DNAH1_000063" "g.52400522C>T" "" "" "" "DNAH1(NM_015512.4):c.5568C>T (p.H1856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52366506C>T" "" "likely benign" "" "0000654999" "0" "30" "3" "52436661" "52436661" "subst" "0.000113701" "02327" "DNAH1_000064" "g.52436661G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402645G>A" "" "likely benign" "" "0000669773" "3" "10" "3" "52394055" "52394055" "subst" "0.0185102" "03575" "DNAH1_000021" "g.52394055G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs61734638}" "Germline" "" "rs61734638" "0" "" "" "g.52360039G>A" "" "benign" "" "0000677064" "0" "30" "3" "52414027" "52414027" "subst" "4.25496E-5" "01943" "DNAH1_000065" "g.52414027G>A" "" "" "" "DNAH1(NM_015512.4):c.7484G>A (p.R2495H), DNAH1(NM_015512.5):c.7484G>A (p.(Arg2495His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677065" "0" "30" "3" "52436441" "52436441" "subst" "0.00454593" "01804" "BAP1_000001" "g.52436441C>A" "" "" "" "BAP1(NM_004656.3):c.2057-4G>T (p.?), BAP1(NM_004656.4):c.2057-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677066" "0" "30" "3" "52439211" "52439211" "subst" "1.62439E-5" "02327" "BAP1_000048" "g.52439211T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677067" "0" "30" "3" "52439313" "52439313" "subst" "0" "01943" "BAP1_000049" "g.52439313G>A" "" "" "" "BAP1(NM_004656.2):c.932-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689120" "0" "30" "3" "52383001" "52383001" "subst" "0.00419665" "01943" "DNAH1_000066" "g.52383001G>A" "" "" "" "DNAH1(NM_015512.4):c.2204G>A (p.S735N, p.(Ser735Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689121" "0" "30" "3" "52394348" "52394348" "subst" "2.84486E-5" "01943" "DNAH1_000067" "g.52394348C>T" "" "" "" "DNAH1(NM_015512.4):c.4593C>T (p.D1531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689122" "0" "50" "3" "52419404" "52419404" "subst" "0" "01943" "DNAH1_000068" "g.52419404A>G" "" "" "" "DNAH1(NM_015512.4):c.8566A>G (p.M2856V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719537" "0" "30" "3" "52365180" "52365180" "subst" "0.000664583" "01943" "DNAH1_000003" "g.52365180G>C" "" "" "" "DNAH1(NM_015512.4):c.888G>C (p.Q296H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719538" "0" "30" "3" "52384594" "52384594" "subst" "0.0043825" "01943" "DNAH1_000069" "g.52384594A>G" "" "" "" "DNAH1(NM_015512.4):c.2717A>G (p.D906G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719539" "0" "50" "3" "52386692" "52386692" "subst" "0" "01943" "DNAH1_000070" "g.52386692G>A" "" "" "" "DNAH1(NM_015512.4):c.2996G>A (p.R999H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719540" "0" "50" "3" "52399021" "52399021" "subst" "0" "01943" "DNAH1_000071" "g.52399021T>C" "" "" "" "DNAH1(NM_015512.4):c.5504T>C (p.L1835P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719541" "0" "50" "3" "52420222" "52420223" "del" "0" "02329" "DNAH1_000072" "g.52420222_52420223del" "" "" "" "DNAH1(NM_015512.5):c.8672_8673delAG (p.E2891Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719542" "0" "30" "3" "52426510" "52426510" "subst" "2.43885E-5" "01943" "DNAH1_000073" "g.52426510A>G" "" "" "" "DNAH1(NM_015512.4):c.10083A>G (p.V3361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719543" "0" "30" "3" "52426528" "52426528" "subst" "3.25071E-5" "01943" "DNAH1_000074" "g.52426528C>T" "" "" "" "DNAH1(NM_015512.4):c.10101C>T (p.P3367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719544" "0" "50" "3" "52429367" "52429367" "subst" "0" "02329" "DNAH1_000075" "g.52429367C>T" "" "" "" "DNAH1(NM_015512.5):c.11012C>T (p.T3671I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719545" "0" "30" "3" "52439282" "52439282" "subst" "0.00055658" "02329" "DNAH1_000043" "g.52439282G>A" "" "" "" "BAP1(NM_004656.4):c.960C>T (p.C320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801319" "0" "50" "3" "52380608" "52380608" "subst" "4.06114E-6" "01943" "DNAH1_000076" "g.52380608A>G" "" "" "" "DNAH1(NM_015512.4):c.1777A>G (p.M593V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801320" "0" "50" "3" "52387201" "52387201" "subst" "4.0623E-6" "01943" "DNAH1_000077" "g.52387201C>T" "" "" "" "DNAH1(NM_015512.4):c.3110C>T (p.S1037L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801321" "0" "50" "3" "52388947" "52388947" "subst" "4.87369E-5" "01943" "DNAH1_000078" "g.52388947C>T" "" "" "" "DNAH1(NM_015512.4):c.3569C>T (p.P1190L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801322" "0" "50" "3" "52392013" "52392013" "subst" "2.48474E-5" "01943" "DNAH1_000079" "g.52392013C>G" "" "" "" "DNAH1(NM_015512.4):c.4080C>G (p.I1360M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801323" "0" "30" "3" "52410004" "52410004" "subst" "0.00207183" "01943" "DNAH1_000080" "g.52410004G>A" "" "" "" "DNAH1(NM_015512.4):c.7193G>A (p.R2398H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801324" "0" "50" "3" "52426639" "52426639" "subst" "0" "01943" "DNAH1_000081" "g.52426639C>A" "" "" "" "DNAH1(NM_015512.4):c.10212C>A (p.N3404K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801325" "0" "10" "3" "52436459" "52436459" "subst" "0.00415756" "02369" "BAP1_000051" "g.52436459T>G" "" "" "" "BAP1(NM_004656.2):c.2057-22A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000815759" "3" "90" "3" "52430999" "52431000" "del" "9.83091E-5" "00006" "DNAH1_000082" "g.52430999_52431000del" "" "" "" "11726_11727delCT" "" "Germline" "" "" "0" "" "" "g.52396983_52396984del" "" "pathogenic (recessive)" "" "0000850379" "0" "50" "3" "52412764" "52412764" "subst" "0" "01943" "DNAH1_000084" "g.52412764G>A" "" "" "" "DNAH1(NM_015512.4):c.7345G>A (p.G2449S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850380" "0" "70" "3" "52436306" "52436306" "subst" "0" "02327" "BAP1_000062" "g.52436306A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850381" "0" "90" "3" "52437276" "52437276" "subst" "0" "02327" "BAP1_000063" "g.52437276G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000859098" "0" "30" "3" "52388933" "52388933" "subst" "2.03056E-5" "01943" "DNAH1_000083" "g.52388933C>T" "" "" "" "DNAH1(NM_015512.4):c.3555C>T (p.Y1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859099" "0" "30" "3" "52437754" "52437754" "subst" "8.93808E-5" "01943" "BAP1_000007" "g.52437754G>A" "" "" "" "BAP1(NM_004656.2):c.1407C>T (p.S469=), BAP1(NM_004656.3):c.1407C>T (p.(Ser469=)), BAP1(NM_004656.4):c.1407C>T (p.S469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859100" "0" "10" "3" "52439216" "52439216" "subst" "0.00245277" "02326" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885918" "0" "90" "3" "52366411" "52366411" "subst" "0" "02327" "DNAH1_000085" "g.52366411G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885919" "0" "70" "3" "52380743" "52380744" "ins" "0" "02329" "DNAH1_000086" "g.52380743_52380744insGG" "" "" "" "DNAH1(NM_015512.5):c.1912_1913insGG (p.D638Gfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885921" "0" "50" "3" "52391648" "52391648" "subst" "0.000208611" "02327" "DNAH1_000006" "g.52391648G>A" "" "" "" "DNAH1(NM_015512.4):c.3877G>A (p.(Asp1293Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885922" "0" "50" "3" "52406086" "52406086" "subst" "4.06994E-6" "02327" "DNAH1_000087" "g.52406086T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885923" "0" "50" "3" "52406351" "52406351" "subst" "4.06108E-5" "02325" "DNAH1_000088" "g.52406351C>T" "" "" "" "DNAH1(NM_015512.5):c.6775C>T (p.R2259C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885924" "0" "50" "3" "52424975" "52424975" "subst" "0.000677445" "02325" "DNAH1_000035" "g.52424975C>G" "" "" "" "DNAH1(NM_015512.4):c.9646C>G (p.L3216V), DNAH1(NM_015512.5):c.9646C>G (p.(Leu3216Val), p.L3216V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885925" "0" "50" "3" "52437527" "52437527" "subst" "8.12691E-6" "02329" "BAP1_000065" "g.52437527C>T" "" "" "" "BAP1(NM_004656.4):c.1634G>A (p.R545H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885926" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "02327" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911976" "0" "30" "3" "52436835" "52436835" "subst" "8.12117E-6" "02327" "BAP1_000067" "g.52436835G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923969" "0" "70" "3" "52436659" "52436659" "subst" "0" "02327" "BAP1_000070" "g.52436659T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948190" "0" "90" "3" "52366216" "52366216" "subst" "0" "02327" "DNAH1_000089" "g.52366216C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948191" "0" "90" "3" "52436842" "52436843" "ins" "0" "02329" "DNAH1_000090" "g.52436842_52436843insAA" "" "" "" "BAP1(NM_004656.4):c.1936_1937insTT (p.Y646Ffs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948192" "0" "30" "3" "52439240" "52439240" "subst" "0.00592893" "01804" "BAP1_000011" "g.52439240T>C" "" "" "" "BAP1(NM_004656.2):c.1002A>G (p.L334=), BAP1(NM_004656.3):c.1002A>G (p.(Leu334=)), BAP1(NM_004656.4):c.1002A>G (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962842" "0" "90" "3" "52387129" "52387132" "dup" "0" "02325" "DNAH1_000024" "g.52387129_52387132dup" "" "" "" "DNAH1(NM_015512.4):c.3038_3041dupTCTC (p.R1015Lfs*19), DNAH1(NM_015512.5):c.3038_3041dupTCTC (p.R1015Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962843" "0" "50" "3" "52415789" "52415789" "subst" "0.000942312" "02325" "DNAH1_000091" "g.52415789A>G" "" "" "" "DNAH1(NM_015512.5):c.7742A>G (p.N2581S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962845" "0" "50" "3" "52436368" "52436368" "subst" "0" "02329" "DNAH1_000092" "g.52436368A>G" "" "" "" "BAP1(NM_004656.4):c.2126T>C (p.L709P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962846" "0" "30" "3" "52438481" "52438481" "subst" "0" "02327" "DNAH1_000093" "g.52438481T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975916" "0" "50" "3" "52384054" "52384054" "subst" "0.000346402" "01804" "DNAH1_000094" "g.52384054A>G" "" "" "" "DNAH1(NM_015512.5):c.2576A>G (p.(Asn859Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975917" "0" "30" "3" "52384528" "52384528" "subst" "0.000162631" "01804" "DNAH1_000095" "g.52384528G>A" "" "" "" "DNAH1(NM_015512.5):c.2651G>A (p.(Arg884Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975918" "0" "50" "3" "52393981" "52393981" "subst" "2.03211E-5" "01804" "DNAH1_000096" "g.52393981G>A" "" "" "" "DNAH1(NM_015512.5):c.4457G>A (p.(Arg1486Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975919" "0" "30" "3" "52396410" "52396410" "subst" "0.00752103" "01804" "DNAH1_000057" "g.52396410C>T" "" "" "" "DNAH1(NM_015512.5):c.4987C>T (p.(Arg1663Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975920" "0" "30" "3" "52412794" "52412794" "subst" "0.00255934" "01804" "DNAH1_000097" "g.52412794G>A" "" "" "" "DNAH1(NM_015512.5):c.7375G>A (p.(Glu2459Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975921" "0" "50" "3" "52422336" "52422336" "subst" "0" "02325" "DNAH1_000098" "g.52422336G>T" "" "" "" "DNAH1(NM_015512.5):c.9157G>T (p.V3053L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975922" "0" "50" "3" "52424975" "52424975" "subst" "0.000677445" "01804" "DNAH1_000035" "g.52424975C>G" "" "" "" "DNAH1(NM_015512.4):c.9646C>G (p.L3216V), DNAH1(NM_015512.5):c.9646C>G (p.(Leu3216Val), p.L3216V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975923" "0" "50" "3" "52431733" "52431733" "subst" "1.66221E-5" "02325" "DNAH1_000099" "g.52431733C>T" "" "" "" "DNAH1(NM_015512.5):c.11798C>T (p.S3933F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975924" "0" "30" "3" "52436570" "52436570" "subst" "7.75415E-5" "01804" "DNAH1_000100" "g.52436570C>T" "" "" "" "BAP1(NM_004656.3):c.2056+48G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975925" "0" "30" "3" "52437754" "52437754" "subst" "8.93808E-5" "01804" "BAP1_000007" "g.52437754G>A" "" "" "" "BAP1(NM_004656.2):c.1407C>T (p.S469=), BAP1(NM_004656.3):c.1407C>T (p.(Ser469=)), BAP1(NM_004656.4):c.1407C>T (p.S469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993800" "0" "30" "3" "52366398" "52366398" "subst" "0.000131709" "01804" "DNAH1_000101" "g.52366398G>T" "" "" "" "DNAH1(NM_015512.4):c.1274G>T (p.(Arg425Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993801" "0" "30" "3" "52383001" "52383001" "subst" "0.00419665" "01804" "DNAH1_000066" "g.52383001G>A" "" "" "" "DNAH1(NM_015512.4):c.2204G>A (p.S735N, p.(Ser735Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993802" "0" "50" "3" "52384043" "52384043" "subst" "0" "01804" "DNAH1_000102" "g.52384043T>G" "" "" "" "DNAH1(NM_015512.4):c.2565T>G (p.(Tyr855*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993803" "0" "70" "3" "52409344" "52409344" "dup" "0" "02329" "DNAH1_000103" "g.52409344dup" "" "" "" "DNAH1(NM_015512.5):c.7074dupG (p.R2359Afs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000993804" "0" "50" "3" "52430400" "52430400" "subst" "0" "02329" "DNAH1_000104" "g.52430400G>A" "" "" "" "DNAH1(NM_015512.5):c.11276G>A (p.R3759H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993805" "0" "50" "3" "52436611" "52436611" "subst" "2.4393E-5" "01804" "DNAH1_000050" "g.52436611C>T" "" "" "" "BAP1(NM_004656.3):c.2056+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993806" "0" "30" "3" "52438500" "52438500" "subst" "6.97436E-5" "02325" "DNAH1_000105" "g.52438500C>T" "" "" "" "BAP1(NM_004656.4):c.1219G>A (p.D407N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013907" "0" "10" "3" "52437258" "52437258" "subst" "0.00579549" "02327" "BAP1_000003" "g.52437258T>C" "" "" "" "BAP1(NM_004656.4):c.1786A>G (p.S596G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024841" "0" "30" "3" "52437172" "52437172" "subst" "6.09806E-5" "02329" "DNAH1_000052" "g.52437172C>T" "" "" "" "BAP1(NM_004656.2):c.1872G>A (p.G624=), BAP1(NM_004656.3):c.1872G>A (p.(Gly624=)), BAP1(NM_004656.4):c.1872G>A (p.G624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024842" "0" "30" "3" "52437893" "52437893" "subst" "0.000369699" "02327" "DNAH1_000106" "g.52437893G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024843" "0" "30" "3" "52438502" "52438502" "subst" "2.46178E-5" "02327" "DNAH1_000107" "g.52438502T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027635" "0" "50" "3" "52394364" "52394364" "subst" "1.2186E-5" "00006" "DNAH1_000108" "g.52394364G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs768532151" "0" "" "" "g.52360348G>A" "" "VUS" "" "0001027636" "0" "50" "3" "52412657" "52412657" "subst" "4.06184E-6" "00006" "DNAH1_000109" "g.52412657T>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs1164570685" "0" "" "" "g.52378641T>C" "" "VUS" "" "0001027637" "0" "50" "3" "52429418" "52429418" "subst" "2.43851E-5" "00006" "DNAH1_000110" "g.52429418A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs369995851" "0" "" "" "g.52395402A>G" "" "VUS" "" "0001034070" "0" "50" "3" "52356535" "52356535" "subst" "2.43924E-5" "01804" "DNAH1_000111" "g.52356535T>C" "" "" "" "DNAH1(NM_015512.5):c.77T>C (p.(Val26Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034071" "0" "50" "3" "52387600" "52387601" "delins" "0" "01804" "DNAH1_000112" "g.52387600_52387601delinsAT" "" "" "" "DNAH1(NM_015512.5):c.3431_3432delinsAT (p.(Ser1144Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034072" "0" "50" "3" "52414027" "52414027" "subst" "4.25496E-5" "01804" "DNAH1_000065" "g.52414027G>A" "" "" "" "DNAH1(NM_015512.4):c.7484G>A (p.R2495H), DNAH1(NM_015512.5):c.7484G>A (p.(Arg2495His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034073" "0" "10" "3" "52435860" "52435860" "subst" "0" "02327" "DNAH1_000113" "g.52435860G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034074" "0" "90" "3" "52436624" "52436624" "subst" "0" "01804" "DNAH1_000114" "g.52436624G>A" "" "" "" "BAP1(NM_004656.3):c.2050C>T (p.(Gln684Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034075" "0" "30" "3" "52437172" "52437172" "subst" "6.09806E-5" "01804" "DNAH1_000052" "g.52437172C>T" "" "" "" "BAP1(NM_004656.2):c.1872G>A (p.G624=), BAP1(NM_004656.3):c.1872G>A (p.(Gly624=)), BAP1(NM_004656.4):c.1872G>A (p.G624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034076" "0" "50" "3" "52437498" "52437498" "subst" "8.12935E-6" "01804" "DNAH1_000115" "g.52437498G>T" "" "" "" "BAP1(NM_004656.3):c.1663C>A (p.(Pro555Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034077" "0" "50" "3" "52437623" "52437623" "subst" "0" "01804" "DNAH1_000116" "g.52437623G>A" "" "" "" "BAP1(NM_004656.4):c.1538C>T (p.(Ser513Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034078" "0" "30" "3" "52438585" "52438585" "subst" "8.68357E-5" "01804" "DNAH1_000117" "g.52438585C>T" "" "" "" "BAP1(NM_004656.3):c.1134G>A (p.(Ala378=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034079" "0" "30" "3" "52438990" "52438990" "subst" "0" "01804" "DNAH1_000118" "g.52438990A>G" "" "" "" "BAP1(NM_004656.4):c.1116+136T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034080" "0" "50" "3" "52439169" "52439169" "subst" "8.12203E-6" "01804" "DNAH1_000119" "g.52439169G>A" "" "" "" "BAP1(NM_004656.3):c.1073C>T (p.(Pro358Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051351" "0" "30" "3" "52437376" "52437376" "subst" "0" "02369" "DNAH1_000120" "g.52437376C>G" "" "" "" "BAP1(NM_004656.4):c.1729+56G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051352" "0" "50" "3" "52438516" "52438518" "delins" "0" "01804" "DNAH1_000121" "g.52438516_52438518delinsCTC" "" "" "" "BAP1(NM_004656.4):c.1201_1203delinsGAG (p.(Tyr401Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051353" "0" "50" "3" "52438527" "52438527" "subst" "0" "01804" "DNAH1_000122" "g.52438527C>T" "" "" "" "BAP1(NM_004656.4):c.1192G>A (p.(Glu398Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057971" "1" "70" "3" "52365245" "52365245" "subst" "7.49419E-5" "00006" "DNAH1_000123" "g.52365245T>G" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.52331229T>G" "" "likely pathogenic (!)" "" "0001057974" "1" "70" "3" "52426708" "52426708" "subst" "3.89704E-5" "00006" "DNAH1_000125" "g.52426708C>G" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.52392692C>G" "" "likely pathogenic (!)" "" "0001058003" "1" "70" "3" "52388952" "52388952" "subst" "3.65503E-5" "00006" "DNAH1_000124" "g.52388952G>A" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.52354936G>A" "" "likely pathogenic (!)" "" "0001058006" "1" "70" "3" "52424975" "52424975" "subst" "0.000677445" "00006" "DNAH1_000035" "g.52424975C>G" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.52390959C>G" "" "likely pathogenic (!)" "" ## 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 DNAH1 ## Count = 173 "{{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}}" "0000249645" "00006516" "90" "15967" "0" "15967" "0" "c.*3169del" "r.(?)" "p.(=)" "" "0000249987" "00006516" "30" "15760" "0" "15760" "0" "c.*2962A>G" "r.(=)" "p.(=)" "" "0000250091" "00006516" "10" "16084" "0" "16084" "0" "c.*3286A>C" "r.(=)" "p.(=)" "" "0000250399" "00006516" "30" "16070" "0" "16070" "0" "c.*3272A>G" "r.(=)" "p.(=)" "" "0000254078" "00006516" "30" "15760" "0" "15760" "0" "c.*2962A>G" "r.(=)" "p.(=)" "" "0000259583" "00006516" "30" "17552" "0" "17552" "0" "c.*4754G>A" "r.(=)" "p.(=)" "" "0000259709" "00006516" "50" "16110" "0" "16110" "0" "c.*3312G>C" "r.(=)" "p.(=)" "" "0000260327" "00006516" "10" "17576" "0" "17576" "0" "c.*4778T>C" "r.(=)" "p.(=)" "" "0000260328" "00006516" "30" "17552" "0" "17552" "0" "c.*4754G>A" "r.(=)" "p.(=)" "" "0000260329" "00006516" "30" "17504" "0" "17504" "0" "c.*4706C>T" "r.(=)" "p.(=)" "" "0000260330" "00006516" "30" "16090" "0" "16090" "0" "c.*3292G>A" "r.(=)" "p.(=)" "" "0000260331" "00006516" "10" "15594" "0" "15594" "0" "c.*2796T>C" "r.(=)" "p.(=)" "" "0000260332" "00006516" "10" "14777" "0" "14777" "0" "c.*1979C>A" "r.(=)" "p.(=)" "" "0000263540" "00006516" "10" "17576" "0" "17576" "0" "c.*4778T>C" "r.(=)" "p.(=)" "" "0000263541" "00006516" "30" "17552" "0" "17552" "0" "c.*4754G>A" "r.(=)" "p.(=)" "" "0000275168" "00006516" "30" "4108" "0" "4108" "0" "c.4108G>A" "r.(?)" "p.(Glu1370Lys)" "" "0000275169" "00006516" "30" "492" "0" "492" "0" "c.492T>C" "r.(?)" "p.(Thr164=)" "" "0000329439" "00006516" "50" "3099" "0" "3099" "0" "c.3099G>C" "r.(?)" "p.(Trp1033Cys)" "" "0000329440" "00006516" "30" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Asp1293Asn)" "" "0000329441" "00006516" "50" "5531" "0" "5531" "0" "c.5531A>G" "r.(?)" "p.(Lys1844Arg)" "" "0000329442" "00006516" "30" "8765" "0" "8765" "0" "c.8765C>T" "r.(?)" "p.(Ala2922Val)" "" "0000329443" "00006516" "30" "10895" "0" "10895" "0" "c.10895G>A" "r.(?)" "p.(Arg3632His)" "" "0000338364" "00006516" "10" "15760" "0" "15760" "0" "c.*2962A>G" "r.(=)" "p.(=)" "" "0000340226" "00006516" "30" "17576" "0" "17576" "0" "c.*4778T>C" "r.(=)" "p.(=)" "" "0000345483" "00006516" "70" "15768" "0" "15768" "0" "c.*2970C>T" "r.(=)" "p.(=)" "" "0000346791" "00006516" "50" "14714" "0" "14714" "0" "c.*1916T>C" "r.(=)" "p.(=)" "" "0000458724" "00006516" "90" "7531" "0" "7531" "0" "c.7531del" "r.(?)" "p.(Gln2511Serfs*27)" "" "0000458725" "00006516" "90" "2127" "0" "2127" "0" "c.2127dup" "r.(?)" "p.(Ile710Hisfs*4)" "" "0000458726" "00006516" "90" "4744" "0" "4752" "0" "c.4744_4752del" "r.(?)" "p.(Pro1582_Gly1584del)" "" "0000458727" "00006516" "90" "4531" "0" "4531" "0" "c.4531G>A" "r.(?)" "p.(Val1511Met)" "" "0000458729" "00006516" "90" "3931" "0" "3931" "0" "c.3931C>T" "r.(?)" "p.(Gln1311*)" "" "0000458730" "00006516" "90" "9567" "0" "9567" "0" "c.9567del" "r.(?)" "p.(Glu3190Serfs*4)" "" "0000458731" "00006516" "90" "8626" "-1" "8626" "-1" "c.8626-1G>A" "r.spl" "p.?" "" "0000458732" "00006516" "90" "8626" "-1" "8626" "-1" "c.8626-1G>A" "r.spl" "p.?" "" "0000458733" "00006516" "90" "4983" "0" "4983" "0" "c.4983G>A" "r.(?)" "p.(Val1661=)" "" "0000458734" "00006516" "90" "9621" "1" "9621" "1" "c.9621+1G>C" "r.spl" "p.?" "" "0000458755" "00006516" "90" "7153" "0" "7153" "0" "c.7153T>A" "r.(?)" "p.(Trp2385Arg)" "" "0000458756" "00006516" "90" "9505" "0" "9505" "0" "c.9505C>G" "r.(?)" "p.(Arg3169Gly)" "" "0000458757" "00006516" "90" "4642" "0" "4642" "0" "c.4642C>G" "r.(?)" "p.(Leu1548Val)" "" "0000520319" "00006516" "30" "1087" "0" "1087" "0" "c.1087T>C" "r.(?)" "p.(Phe363Leu)" "" "0000520320" "00006516" "70" "3038" "0" "3041" "0" "c.3038_3041dup" "r.(?)" "p.(Arg1015LeufsTer19)" "" "0000520321" "00006516" "50" "3655" "0" "3655" "0" "c.3655C>T" "r.(?)" "p.(Arg1219Cys)" "" "0000520322" "00006516" "50" "3901" "0" "3901" "0" "c.3901C>T" "r.(?)" "p.(Arg1301Trp)" "" "0000520323" "00006516" "30" "4026" "0" "4026" "0" "c.4026G>C" "r.(?)" "p.(Gln1342His)" "" "0000520325" "00006516" "50" "6313" "0" "6313" "0" "c.6313C>G" "r.(?)" "p.(Pro2105Ala)" "" "0000520326" "00006516" "50" "7037" "0" "7037" "0" "c.7037C>T" "r.(?)" "p.(Pro2346Leu)" "" "0000520327" "00006516" "30" "7143" "0" "7143" "0" "c.7143C>G" "r.(?)" "p.(Ile2381Met)" "" "0000520330" "00006516" "50" "9278" "0" "9278" "0" "c.9278C>G" "r.(?)" "p.(Ala3093Gly)" "" "0000520331" "00006516" "50" "9646" "0" "9646" "0" "c.9646C>G" "r.(?)" "p.(Leu3216Val)" "" "0000520333" "00006516" "30" "10645" "0" "10645" "0" "c.10645C>T" "r.(?)" "p.(Leu3549=)" "" "0000520334" "00006516" "50" "11362" "0" "11362" "0" "c.11362G>A" "r.(?)" "p.(Gly3788Ser)" "" "0000520335" "00006516" "50" "11647" "0" "11647" "0" "c.11647G>A" "r.(?)" "p.(Gly3883Ser)" "" "0000520336" "00006516" "30" "14777" "0" "14777" "0" "c.*1979C>A" "r.(=)" "p.(=)" "" "0000520337" "00006516" "30" "15146" "0" "15146" "0" "c.*2348C>T" "r.(=)" "p.(=)" "" "0000520338" "00006516" "30" "15217" "0" "15217" "0" "c.*2419G>A" "r.(=)" "p.(=)" "" "0000520340" "00006516" "90" "15617" "0" "15618" "0" "c.*2819_*2820insAATTG" "r.(=)" "p.(=)" "" "0000520341" "00006516" "30" "15760" "0" "15760" "0" "c.*2962A>G" "r.(=)" "p.(=)" "" "0000520342" "00006516" "10" "16084" "0" "16084" "0" "c.*3286A>C" "r.(=)" "p.(=)" "" "0000520343" "00006516" "30" "17552" "0" "17552" "0" "c.*4754G>A" "r.(=)" "p.(=)" "" "0000520344" "00006516" "30" "17618" "0" "17618" "0" "c.*4820G>A" "r.(=)" "p.(=)" "" "0000608793" "00006516" "50" "7759" "0" "7759" "0" "c.7759G>A" "r.(?)" "p.(Val2587Met)" "" "0000608794" "00006516" "30" "14754" "0" "14754" "0" "c.*1956C>T" "r.(=)" "p.(=)" "" "0000608795" "00006516" "30" "14947" "0" "14947" "0" "c.*2149C>T" "r.(=)" "p.(=)" "" "0000608796" "00006516" "90" "15027" "0" "15027" "0" "c.*2229C>T" "r.(=)" "p.(=)" "" "0000608797" "00006516" "90" "15599" "0" "15600" "0" "c.*2801_*2802insA" "r.(=)" "p.(=)" "" "0000608798" "00006516" "30" "16089" "0" "16089" "0" "c.*3291C>T" "r.(=)" "p.(=)" "" "0000621296" "00006516" "30" "732" "0" "732" "0" "c.732A>G" "r.(?)" "p.(Pro244=)" "" "0000621298" "00006516" "30" "4092" "0" "4092" "0" "c.4092A>G" "r.(?)" "p.(Leu1364=)" "" "0000621299" "00006516" "50" "6970" "0" "6970" "0" "c.6970G>A" "r.(?)" "p.(Asp2324Asn)" "" "0000621300" "00006516" "50" "8765" "0" "8765" "0" "c.8765C>T" "r.(?)" "p.(Ala2922Val)" "" "0000621301" "00006516" "30" "15508" "0" "15508" "0" "c.*2710C>T" "r.(=)" "p.(=)" "" "0000628273" "00006516" "50" "8854" "0" "8854" "0" "c.8854A>C" "r.(?)" "p.(Ile2952Leu)" "" "0000651295" "00006516" "50" "1708" "0" "1708" "0" "c.1708C>A" "r.(?)" "p.(Arg570Ser)" "" "0000651296" "00006516" "10" "4531" "0" "4531" "0" "c.4531G>A" "r.(?)" "p.(Val1511Met)" "" "0000651297" "00006516" "10" "4987" "0" "4987" "0" "c.4987C>T" "r.(?)" "p.(Arg1663Cys)" "" "0000651298" "00006516" "10" "7569" "0" "7569" "0" "c.7569C>T" "r.(=)" "p.(=)" "" "0000651299" "00006516" "10" "8765" "0" "8765" "0" "c.8765C>T" "r.(?)" "p.(Ala2922Val)" "" "0000651300" "00006516" "50" "10438" "0" "10438" "0" "c.10438A>G" "r.(?)" "p.(Ile3480Val)" "" "0000651301" "00006516" "30" "10915" "0" "10915" "0" "c.10915G>A" "r.(?)" "p.(Ala3639Thr)" "" "0000651302" "00006516" "10" "11230" "0" "11230" "0" "c.11230C>T" "r.(?)" "p.(Arg3744Cys)" "" "0000654997" "00006516" "30" "3111" "0" "3111" "0" "c.3111G>A" "r.(?)" "p.(Ser1037=)" "" "0000654998" "00006516" "30" "5568" "0" "5568" "0" "c.5568C>T" "r.(?)" "p.(His1856=)" "" "0000654999" "00006516" "30" "14997" "0" "14997" "0" "c.*2199G>A" "r.(=)" "p.(=)" "" "0000669773" "00006516" "10" "4531" "0" "4531" "0" "c.4531G>A" "r.(?)" "p.(Val1511Met)" "" "0000677064" "00006516" "30" "7484" "0" "7484" "0" "c.7484G>A" "r.(?)" "p.(Arg2495His)" "" "0000677065" "00006516" "30" "14777" "0" "14777" "0" "c.*1979C>A" "r.(=)" "p.(=)" "" "0000677066" "00006516" "30" "17547" "0" "17547" "0" "c.*4749T>C" "r.(=)" "p.(=)" "" "0000677067" "00006516" "30" "17649" "0" "17649" "0" "c.*4851G>A" "r.(=)" "p.(=)" "" "0000689120" "00006516" "30" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Ser735Asn)" "" "0000689121" "00006516" "30" "4593" "0" "4593" "0" "c.4593C>T" "r.(?)" "p.(Asp1531=)" "" "0000689122" "00006516" "50" "8566" "0" "8566" "0" "c.8566A>G" "r.(?)" "p.(Met2856Val)" "" "0000719537" "00006516" "30" "888" "0" "888" "0" "c.888G>C" "r.(?)" "p.(Gln296His)" "" "0000719538" "00006516" "30" "2717" "0" "2717" "0" "c.2717A>G" "r.(?)" "p.(Asp906Gly)" "" "0000719539" "00006516" "50" "2996" "0" "2996" "0" "c.2996G>A" "r.(?)" "p.(Arg999His)" "" "0000719540" "00006516" "50" "5504" "0" "5504" "0" "c.5504T>C" "r.(?)" "p.(Leu1835Pro)" "" "0000719541" "00006516" "50" "8672" "0" "8673" "0" "c.8672_8673del" "r.(?)" "p.(Glu2891Glyfs*6)" "" "0000719542" "00006516" "30" "10083" "0" "10083" "0" "c.10083A>G" "r.(?)" "p.(Val3361=)" "" "0000719543" "00006516" "30" "10101" "0" "10101" "0" "c.10101C>T" "r.(?)" "p.(Pro3367=)" "" "0000719544" "00006516" "50" "11012" "0" "11012" "0" "c.11012C>T" "r.(?)" "p.(Thr3671Ile)" "" "0000719545" "00006516" "30" "17618" "0" "17618" "0" "c.*4820G>A" "r.(=)" "p.(=)" "" "0000801319" "00006516" "50" "1777" "0" "1777" "0" "c.1777A>G" "r.(?)" "p.(Met593Val)" "" "0000801320" "00006516" "50" "3110" "0" "3110" "0" "c.3110C>T" "r.(?)" "p.(Ser1037Leu)" "" "0000801321" "00006516" "50" "3569" "0" "3569" "0" "c.3569C>T" "r.(?)" "p.(Pro1190Leu)" "" "0000801322" "00006516" "50" "4080" "0" "4080" "0" "c.4080C>G" "r.(?)" "p.(Ile1360Met)" "" "0000801323" "00006516" "30" "7193" "0" "7193" "0" "c.7193G>A" "r.(?)" "p.(Arg2398His)" "" "0000801324" "00006516" "50" "10212" "0" "10212" "0" "c.10212C>A" "r.(?)" "p.(Asn3404Lys)" "" "0000801325" "00006516" "10" "14795" "0" "14795" "0" "c.*1997T>G" "r.(=)" "p.(=)" "" "0000815759" "00006516" "90" "11726" "0" "11727" "0" "c.11726_11727del" "r.(?)" "p.(Pro3909Argfs*33)" "" "0000850379" "00006516" "50" "7345" "0" "7345" "0" "c.7345G>A" "r.(?)" "p.(Gly2449Ser)" "" "0000850380" "00006516" "70" "14642" "0" "14642" "0" "c.*1844A>C" "r.(=)" "p.(=)" "" "0000850381" "00006516" "90" "15612" "0" "15612" "0" "c.*2814G>A" "r.(=)" "p.(=)" "" "0000859098" "00006516" "30" "3555" "0" "3555" "0" "c.3555C>T" "r.(?)" "p.(Tyr1185=)" "" "0000859099" "00006516" "30" "16090" "0" "16090" "0" "c.*3292G>A" "r.(=)" "p.(=)" "" "0000859100" "00006516" "10" "17552" "0" "17552" "0" "c.*4754G>A" "r.(=)" "p.(=)" "" "0000885918" "00006516" "90" "1286" "1" "1286" "1" "c.1286+1G>A" "r.spl?" "p.?" "" "0000885919" "00006516" "70" "1912" "0" "1913" "0" "c.1912_1913insGG" "r.(?)" "p.(Asp638Glyfs*10)" "" "0000885921" "00006516" "50" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Asp1293Asn)" "" "0000885922" "00006516" "50" "6650" "0" "6650" "0" "c.6650T>C" "r.(?)" "p.(Leu2217Pro)" "" "0000885923" "00006516" "50" "6775" "0" "6775" "0" "c.6775C>T" "r.(?)" "p.(Arg2259Cys)" "" "0000885924" "00006516" "50" "9646" "0" "9646" "0" "c.9646C>G" "r.(?)" "p.(Leu3216Val)" "" "0000885925" "00006516" "50" "15863" "0" "15863" "0" "c.*3065C>T" "r.(=)" "p.(=)" "" "0000885926" "00006516" "30" "17552" "0" "17552" "0" "c.*4754G>A" "r.(=)" "p.(=)" "" "0000911976" "00006516" "30" "15171" "0" "15171" "0" "c.*2373G>A" "r.(=)" "p.(=)" "" "0000923969" "00006516" "70" "14995" "0" "14995" "0" "c.*2197T>C" "r.(=)" "p.(=)" "" "0000948190" "00006516" "90" "1092" "0" "1092" "0" "c.1092C>A" "r.(?)" "p.(Cys364*)" "" "0000948191" "00006516" "90" "15178" "0" "15179" "0" "c.*2380_*2381insAA" "r.(=)" "p.(=)" "" "0000948192" "00006516" "30" "17576" "0" "17576" "0" "c.*4778T>C" "r.(=)" "p.(=)" "" "0000962842" "00006516" "90" "3038" "0" "3041" "0" "c.3038_3041dup" "r.(?)" "p.(Arg1015LeufsTer19)" "" "0000962843" "00006516" "50" "7742" "0" "7742" "0" "c.7742A>G" "r.(?)" "p.(Asn2581Ser)" "" "0000962845" "00006516" "50" "14704" "0" "14704" "0" "c.*1906A>G" "r.(=)" "p.(=)" "" "0000962846" "00006516" "30" "16817" "0" "16817" "0" "c.*4019T>G" "r.(=)" "p.(=)" "" "0000975916" "00006516" "50" "2576" "0" "2576" "0" "c.2576A>G" "r.(?)" "p.(Asn859Ser)" "" "0000975917" "00006516" "30" "2651" "0" "2651" "0" "c.2651G>A" "r.(?)" "p.(Arg884Gln)" "" "0000975918" "00006516" "50" "4457" "0" "4457" "0" "c.4457G>A" "r.(?)" "p.(Arg1486Gln)" "" "0000975919" "00006516" "30" "4987" "0" "4987" "0" "c.4987C>T" "r.(?)" "p.(Arg1663Cys)" "" "0000975920" "00006516" "30" "7375" "0" "7375" "0" "c.7375G>A" "r.(?)" "p.(Glu2459Lys)" "" "0000975921" "00006516" "50" "9157" "0" "9157" "0" "c.9157G>T" "r.(?)" "p.(Val3053Leu)" "" "0000975922" "00006516" "50" "9646" "0" "9646" "0" "c.9646C>G" "r.(?)" "p.(Leu3216Val)" "" "0000975923" "00006516" "50" "11798" "0" "11798" "0" "c.11798C>T" "r.(?)" "p.(Ser3933Phe)" "" "0000975924" "00006516" "30" "14906" "0" "14906" "0" "c.*2108C>T" "r.(=)" "p.(=)" "" "0000975925" "00006516" "30" "16090" "0" "16090" "0" "c.*3292G>A" "r.(=)" "p.(=)" "" "0000993800" "00006516" "30" "1274" "0" "1274" "0" "c.1274G>T" "r.(?)" "p.(Arg425Leu)" "" "0000993801" "00006516" "30" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Ser735Asn)" "" "0000993802" "00006516" "50" "2565" "0" "2565" "0" "c.2565T>G" "r.(?)" "p.(Tyr855*)" "" "0000993803" "00006516" "70" "7074" "0" "7074" "0" "c.7074dup" "r.(?)" "p.(Arg2359Alafs*10)" "" "0000993804" "00006516" "50" "11276" "0" "11276" "0" "c.11276G>A" "r.(?)" "p.(Arg3759His)" "" "0000993805" "00006516" "50" "14947" "0" "14947" "0" "c.*2149C>T" "r.(=)" "p.(=)" "" "0000993806" "00006516" "30" "16836" "0" "16836" "0" "c.*4038C>T" "r.(=)" "p.(=)" "" "0001013907" "00006516" "10" "15594" "0" "15594" "0" "c.*2796T>C" "r.(=)" "p.(=)" "" "0001024841" "00006516" "30" "15508" "0" "15508" "0" "c.*2710C>T" "r.(=)" "p.(=)" "" "0001024842" "00006516" "30" "16229" "0" "16229" "0" "c.*3431G>T" "r.(=)" "p.(=)" "" "0001024843" "00006516" "30" "16838" "0" "16838" "0" "c.*4040T>G" "r.(=)" "p.(=)" "" "0001027635" "00006516" "50" "4609" "0" "4609" "0" "c.4609G>A" "r.(?)" "p.(Val1537Met)" "" "0001027636" "00006516" "50" "7238" "0" "7238" "0" "c.7238T>C" "r.(?)" "p.(Val2413Ala)" "" "0001027637" "00006516" "50" "11063" "0" "11063" "0" "c.11063A>G" "r.(?)" "p.(Tyr3688Cys)" "" "0001034070" "00006516" "50" "77" "0" "77" "0" "c.77T>C" "r.(?)" "p.(Val26Ala)" "" "0001034071" "00006516" "50" "3431" "0" "3432" "0" "c.3431_3432delinsAT" "r.(?)" "p.(Ser1144Asn)" "" "0001034072" "00006516" "50" "7484" "0" "7484" "0" "c.7484G>A" "r.(?)" "p.(Arg2495His)" "" "0001034073" "00006516" "10" "14196" "0" "14196" "0" "c.*1398G>A" "r.(=)" "p.(=)" "" "0001034074" "00006516" "90" "14960" "0" "14960" "0" "c.*2162G>A" "r.(=)" "p.(=)" "" "0001034075" "00006516" "30" "15508" "0" "15508" "0" "c.*2710C>T" "r.(=)" "p.(=)" "" "0001034076" "00006516" "50" "15834" "0" "15834" "0" "c.*3036G>T" "r.(=)" "p.(=)" "" "0001034077" "00006516" "50" "15959" "0" "15959" "0" "c.*3161G>A" "r.(=)" "p.(=)" "" "0001034078" "00006516" "30" "16921" "0" "16921" "0" "c.*4123C>T" "r.(=)" "p.(=)" "" "0001034079" "00006516" "30" "17326" "0" "17326" "0" "c.*4528A>G" "r.(=)" "p.(=)" "" "0001034080" "00006516" "50" "17505" "0" "17505" "0" "c.*4707G>A" "r.(=)" "p.(=)" "" "0001051351" "00006516" "30" "15712" "0" "15712" "0" "c.*2914C>G" "r.(=)" "p.(=)" "" "0001051352" "00006516" "50" "16852" "0" "16854" "0" "c.*4054_*4056delinsCTC" "r.(=)" "p.(=)" "" "0001051353" "00006516" "50" "16863" "0" "16863" "0" "c.*4065C>T" "r.(=)" "p.(=)" "" "0001057971" "00006516" "70" "953" "0" "953" "0" "c.953T>G" "r.(?)" "p.(Leu318Arg)" "" "0001057974" "00006516" "70" "10278" "3" "10278" "3" "c.10278+3C>G" "r.spl" "p.?" "" "0001058003" "00006516" "70" "3574" "0" "3574" "0" "c.3574G>A" "r.(?)" "p.(Glu1192Lys)" "" "0001058006" "00006516" "70" "9646" "0" "9646" "0" "c.9646C>G" "r.(?)" "p.(Leu3216Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000226477" "0000458724" "0000226478" "0000458725" "0000226479" "0000458726" "0000226480" "0000458727" "0000226480" "0000458757" "0000226481" "0000458729" "0000226482" "0000458730" "0000226483" "0000458731" "0000226484" "0000458732" "0000226485" "0000458733" "0000226486" "0000458734" "0000226507" "0000458755" "0000226507" "0000458756" "0000274323" "0000628273" "0000294606" "0000651295" "0000294607" "0000651296" "0000294608" "0000651297" "0000294609" "0000651298" "0000294610" "0000651299" "0000294611" "0000651300" "0000294612" "0000651301" "0000294613" "0000651302" "0000306085" "0000669773" "0000387628" "0000815759" "0000463991" "0001027635" "0000463992" "0001027636" "0000463993" "0001027637" "0000469919" "0001057971" "0000469922" "0001057974" "0000469927" "0001058003" "0000469930" "0001058006"