### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAH11) # 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}}" "DNAH11" "dynein, axonemal, heavy chain 11" "7" "p21" "unknown" "NG_012886.2" "UD_131712608358" "" "https://www.LOVD.nl/DNAH11" "" "1" "2942" "8701" "603339" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-02-16 12:47:52" "00006" "2025-12-05 13:23:08" ## 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}}" "00025496" "DNAH11" "dynein, axonemal, heavy chain 11" "001" "NM_001277115.1" "" "NP_001264044.1" "" "" "" "-31" "13865" "13551" "21582833" "21941186" "00006" "2020-02-16 12:46:52" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "00422" "DPDD" "dihydropyrimidine dehydrogenase deficiency (DPDD)" "AR" "274270" "" "" "" "00006" "2014-06-17 21:43:51" "00006" "2021-12-10 21:51:32" "03071" "CILD7" "dyskinesia, ciliary, primary, 7 (CILD-7)" "AR" "611884" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05578" "MKS" "Meckel syndrome (MKS, Meckel-Gruber syndrome)" "" "" "" "" "" "00006" "2019-02-22 22:26:27" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNAH11" "03071" ## Individuals ## Do not remove or alter this header ## ## Count = 71 "{{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}}" "00228665" "" "" "00155716" "1" "" "00006" "{PMID:van Kuilenburg 2018:2969193}, {DOI:van Kuilenburg 2018:10.1002/humu.23538}" "" "M" "" "Netherlands" "" "0" "" "" "" "son" "00288191" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat1" "00294386" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294387" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294388" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294389" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294390" "" "" "" "235" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294391" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294392" "" "" "" "230" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294393" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294394" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294395" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294396" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294397" "" "" "" "219" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294398" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294399" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294400" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294401" "" "" "" "153" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294402" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294403" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294404" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294405" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294406" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294407" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294408" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294409" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294410" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294411" "" "" "" "196" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294412" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294413" "" "" "" "187" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294414" "" "" "" "76" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294415" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305139" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305140" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305141" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305142" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305143" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305144" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305145" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305146" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305147" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306204" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "102" "00327547" "" "" "" "5" "" "00006" "{PMID:Beck 2014:25044745}" "2-generation family, 5 affected (2F, 3M)" "F;M" "yes" "Iraq" "" "0" "" "" "" "family" "00385445" "" "" "" "1" "" "00006" "{PMID:Takenouchi 2017:28374938}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Japan" "" "0" "" "" "" "patient" "00419661" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9147" "00435320" "" "" "" "1" "" "03322" "{PMID:Masunaga 2022:36224347}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat2" "00449549" "" "" "" "1" "" "00006" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00449553" "" "" "" "1" "" "00006" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "patient (mother not available)" "F" "" "" "" "0" "" "" "" "Pat13" "00462328" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat13" "00462329" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat14" "00462330" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat15" "00462381" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462382" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462383" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462384" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462385" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462386" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462387" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462388" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462389" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462390" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462391" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462392" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462393" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462394" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00468256" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "LAT1031" "00468263" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "M" "" "United States" "" "0" "" "" "Hispanic;white" "GMKF_2" "00468276" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "M" "" "United States" "" "0" "" "" "Hispanic;white" "GMKF_15" "00468814" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468815" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00470664" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat25" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 71 "{{individualid}}" "{{diseaseid}}" "00228665" "00422" "00288191" "00198" "00294386" "00198" "00294387" "00198" "00294388" "00198" "00294389" "00198" "00294390" "00198" "00294391" "00198" "00294392" "00198" "00294393" "00198" "00294394" "00198" "00294395" "00198" "00294396" "00198" "00294397" "00198" "00294398" "00198" "00294399" "00198" "00294400" "00198" "00294401" "00198" "00294402" "00198" "00294403" "00198" "00294404" "00198" "00294405" "00198" "00294406" "00198" "00294407" "00198" "00294408" "00198" "00294409" "00198" "00294410" "00198" "00294411" "00198" "00294412" "00198" "00294413" "00198" "00294414" "00198" "00294415" "00198" "00305139" "00198" "00305140" "00198" "00305141" "00198" "00305142" "00198" "00305143" "00198" "00305144" "00198" "00305145" "00198" "00305146" "00198" "00305147" "00198" "00306204" "03071" "00327547" "04214" "00385445" "05578" "00419661" "00198" "00435320" "05517" "00449549" "05611" "00449553" "05611" "00462328" "00332" "00462329" "00332" "00462330" "00332" "00462381" "00332" "00462382" "00332" "00462383" "00332" "00462384" "00332" "00462385" "00332" "00462386" "00332" "00462387" "00332" "00462388" "00332" "00462389" "00332" "00462390" "00332" "00462391" "00332" "00462392" "00332" "00462393" "00332" "00462394" "00332" "00468256" "00198" "00468263" "00198" "00468276" "00198" "00468814" "00198" "00468815" "00198" "00470664" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00332, 00422, 03071, 04214, 05517, 05578, 05611, 07210 ## Count = 32 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/enzyme_act}}" "{{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}}" "0000172603" "00422" "00228665" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., born with apparent cortical blindness, subsequently exhibited severe\r\ndevelopmental delay; 2y-severe spasticity, hyperreflexia felt secondary to intrauterine stroke; multiple brain MRIs delay in myelination; 18y-spastic paraparesis, mild intellectual disability" "" "" "" "" "" "" "" "" "" "DPDD" "" "" "0000221928" "00198" "00288191" "00006" "Familial" "13y" "increased body weight, epistaxis, recurrent otitis media, respiratory infections, and sinus infections chronic lung disease, spontaneous pneumothorax, abnormal ciliary motility, scoliosis" "" "" "" "" "" "" "" "" "" "" "" "" "0000232052" "03071" "00306204" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000245811" "04214" "00327547" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease" "" "" "" "" "" "" "" "" "" "" "" "" "0000279240" "05578" "00385445" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., hydrocephalus, occipital encephalocele; born 37w1d, weight 3,954 grams (+4.2SD), length 52.0 cm (+2.5SD), OFC 46.0 cm (+11SD); soon after birth placement ventricularperitoneal shunt for severe hydrocephalus; neonatal period exhibited frequent apneic spells, both obstructive and central components; frequency apneic spells (treated with bidirectional positive airway pressure) increased during infancy; ECG no epileptogenic activities; 5y-poor growth, weight 7.6 kg (−4.0SD), height 85 cm (−4.9SD), severe intellectual disability, no intelligible words, distinctive facies, widely spaced eyes, esotropia, tall ears, depressed nasal bridge, post-axial polydactyly both hands, T1-weighted MRI brain occipital encephalocele, severe hydrocephalus, abdominal ultrasound showed multicystic lesions kidney, ultrasound no intrahepatic fibrosis, no hepatic dysfunction on blood tests" "" "<00y00m01d" "" "" "" "" "" "" "" "MKS6" "Meckel-Gruber syndrome" "" "0000310942" "00198" "00419661" "02300" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325516" "05517" "00435320" "03322" "Familial, autosomal recessive" "09y03m" "see paper; ..." "" "" "" "" "" "" "" "" "" "SEMDG" "NANS-CDG" "" "0000338723" "05611" "00449549" "00006" "Isolated (sporadic)" "8y10m" "see paper; ..., umbilical cord around neck at birth, forceps-assisted delivery, torticollis; developmental delay and/or intellectual disability; delayed speech, delayed language; behavioral disturbances; no hypotonia; focal seizures, epileptiform discharges in the right central region; brain MRI/CTmild thinning corpus callosum, mild diffuse cerebral volume loss; dextrocardia, common atrium, CAVC defect, IAA, patent ductus arteriosus; hypospadias, undescended testes, chordee; jejunal atresia, midline liver; down-slanting palpebral fissures, flattened nasal bridge; unknown coagulopathy; spleen on right; polysplenia syndrome" "" "" "" "" "" "" "" "" "" "" "developmental delay, intellectual disability, dysmorphic features" "" "0000338727" "05611" "00449553" "00006" "Unknown" "21y" "see paper; ..., 33w-premature delivery; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; adjustment disorder with depressed mood; no hypotonia; no seizure; brain MRI/CT normal; dextrocardia, interrupted IVC, atrial septal defect, ventricular septal defect, patent ductus arteriosus; no genitourinary anomalies; midline liver, right-sided stomach; almond-shaped eyes, small hyperpigmented macule under right breast; dermatomyositis; stage 4B mixed cellularity Hodgkin lymphoma; functional asplenia" "" "" "" "" "" "" "" "" "" "" "developmental delay, intellectual disability, dysmorphic features" "" "0000349827" "00332" "00462328" "00006" "Unknown" "" "recurrent respiratory infections from childhood,non-motile sperms" "" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349828" "00332" "00462329" "00006" "Unknown" "" "chronic sinusitis" "" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349829" "00332" "00462330" "00006" "Unknown" "" "situs inversus totalis, dextrocardia" "" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349880" "00332" "00462381" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349881" "00332" "00462382" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349882" "00332" "00462383" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349883" "00332" "00462384" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349884" "00332" "00462385" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349885" "00332" "00462386" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349886" "00332" "00462387" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349887" "00332" "00462388" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349888" "00332" "00462389" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349889" "00332" "00462390" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349890" "00332" "00462391" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349891" "00332" "00462392" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349892" "00332" "00462393" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349893" "00332" "00462394" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "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" "" "0000353415" "00198" "00468263" "00006" "Di-genic" "" "see paper; ..., dextro-transposition great arteries, pulmonary stenosis; atrial situs solitus; right ventricular situs; right arterial situs; dextro-transposition great arteries" "" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" "0000353428" "00198" "00468276" "00006" "Di-genic" "" "see paper; ..., bicuspid aortic valve, aortic stenosis; atrial situs solitus; right ventricular situs; arterial situs solitus; left-sided lesion" "" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" "0000353967" "00198" "00468814" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the abdomen" "" "0000353968" "00198" "00468815" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the abdomen" "" "0000355558" "07210" "00470664" "00006" "Isolated (sporadic)" "12y" "see paper; ... scoliosis, no other skeletal defects; no symptoms; physical activity" "" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 71 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000229755" "00228665" "1" "00006" "00006" "2019-03-23 16:29:58" "00006" "2019-03-23 16:40:51" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000289360" "00288191" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000295554" "00294386" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295555" "00294387" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295556" "00294388" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295557" "00294389" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295558" "00294390" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295559" "00294391" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295560" "00294392" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295561" "00294393" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295562" "00294394" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295563" "00294395" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295564" "00294396" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295565" "00294397" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295566" "00294398" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295567" "00294399" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295568" "00294400" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295569" "00294401" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295570" "00294402" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295571" "00294403" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295572" "00294404" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295573" "00294405" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295574" "00294406" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295575" "00294407" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295576" "00294408" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295577" "00294409" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295578" "00294410" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295579" "00294411" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295580" "00294412" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295581" "00294413" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295582" "00294414" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295583" "00294415" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306268" "00305139" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306269" "00305140" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306270" "00305141" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306271" "00305142" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306272" "00305143" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306273" "00305144" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306274" "00305145" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306275" "00305146" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306276" "00305147" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307338" "00306204" "1" "03695" "03695" "2020-07-11 08:24:36" "" "" "SEQ-NG" "DNA" "" "" "0000328762" "00327547" "1" "00006" "00006" "2021-01-23 14:41:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000386674" "00385445" "1" "00006" "00006" "2021-10-11 17:17:11" "" "" "PCRlr;SEQ" "DNA" "" "" "0000420965" "00419661" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436800" "00435320" "1" "03322" "00006" "2023-06-30 11:04:26" "00006" "2023-06-30 11:10:06" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES, CytoScan" "0000451139" "00449549" "1" "00006" "00006" "2024-04-22 10:35:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451143" "00449553" "1" "00006" "00006" "2024-04-22 10:35:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463960" "00462328" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463961" "00462329" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463962" "00462330" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464013" "00462381" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464014" "00462382" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464015" "00462383" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464016" "00462384" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464017" "00462385" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464018" "00462386" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464019" "00462387" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464020" "00462388" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464021" "00462389" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464022" "00462390" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464023" "00462391" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464024" "00462392" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464025" "00462393" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464026" "00462394" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000469922" "00468256" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469929" "00468263" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469942" "00468276" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470482" "00468814" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470483" "00468815" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472331" "00470664" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000229755" "DPYD" "0000289360" "DNAH11" "0000307338" "DNAH11" "0000386674" "CC2D2A" "0000436800" "NANS" ## 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 = 461 "{{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}}" "0000247957" "0" "10" "7" "21630982" "21630982" "subst" "0.427567" "02325" "DNAH11_000023" "g.21630982A>G" "" "" "" "DNAH11(NM_001277115.1):c.2454A>G (p.A818=), DNAH11(NM_001277115.2):c.2454A>G (p.A818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21591364A>G" "" "benign" "" "0000247996" "0" "10" "7" "21924014" "21924014" "subst" "0.757001" "02325" "DNAH11_000122" "g.21924014A>G" "" "" "" "DNAH11(NM_001277115.1):c.12493A>G (p.M4165V), DNAH11(NM_001277115.2):c.12493A>G (p.M4165V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21884396A>G" "" "benign" "" "0000247999" "0" "10" "7" "21779278" "21779278" "subst" "0.534811" "02325" "DNAH11_000077" "g.21779278A>G" "" "" "" "DNAH11(NM_001277115.1):c.7901A>G (p.N2634S), DNAH11(NM_001277115.2):c.7901A>G (p.N2634S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21739660A>G" "" "benign" "" "0000248007" "0" "10" "7" "21640405" "21640405" "subst" "0.782645" "02325" "DNAH11_000028" "g.21640405A>G" "" "" "" "DNAH11(NM_001277115.1):c.3112A>G (p.T1038A), DNAH11(NM_001277115.2):c.3112A>G (p.T1038A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21600787A>G" "" "benign" "" "0000249112" "0" "10" "7" "21658855" "21658855" "subst" "0.472246" "02325" "DNAH11_000038" "g.21658855A>G" "" "" "" "DNAH11(NM_001277115.2):c.4377+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21619237A>G" "" "benign" "" "0000249113" "0" "10" "7" "21907458" "21907458" "delins" "0" "02325" "DNAH11_000117" "g.21907458delinsTG" "" "" "" "DNAH11(NM_001277115.2):c.11691-19delAinsTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21867840delinsTG" "" "benign" "" "0000249440" "0" "30" "7" "21781653" "21781653" "subst" "2.03173E-5" "02325" "DNAH11_000078" "g.21781653A>T" "" "" "" "DNAH11(NM_001277115.2):c.8023A>T (p.I2675F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21742035A>T" "" "likely benign" "" "0000249828" "0" "50" "7" "21677293" "21677293" "subst" "0" "02325" "DNAH11_000046" "g.21677293A>C" "" "" "" "DNAH11(NM_001277115.2):c.4790A>C (p.Y1597S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21637675A>C" "" "VUS" "" "0000250502" "0" "70" "7" "21827101" "21827101" "subst" "8.14166E-6" "02329" "DNAH11_000097" "g.21827101A>C" "" "" "" "DNAH11(NM_001277115.1):c.9824A>C (p.Y3275S), DNAH11(NM_001277115.2):c.9824A>C (p.Y3275S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21787483A>C" "" "likely pathogenic" "" "0000253218" "0" "10" "7" "21630982" "21630982" "subst" "0.427567" "01943" "DNAH11_000023" "g.21630982A>G" "" "" "" "DNAH11(NM_001277115.1):c.2454A>G (p.A818=), DNAH11(NM_001277115.2):c.2454A>G (p.A818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21591364A>G" "" "benign" "" "0000253257" "0" "10" "7" "21924014" "21924014" "subst" "0.757001" "01943" "DNAH11_000122" "g.21924014A>G" "" "" "" "DNAH11(NM_001277115.1):c.12493A>G (p.M4165V), DNAH11(NM_001277115.2):c.12493A>G (p.M4165V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21884396A>G" "" "benign" "" "0000253260" "0" "10" "7" "21779278" "21779278" "subst" "0.534811" "01943" "DNAH11_000077" "g.21779278A>G" "" "" "" "DNAH11(NM_001277115.1):c.7901A>G (p.N2634S), DNAH11(NM_001277115.2):c.7901A>G (p.N2634S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21739660A>G" "" "benign" "" "0000253268" "0" "10" "7" "21640405" "21640405" "subst" "0.782645" "01943" "DNAH11_000028" "g.21640405A>G" "" "" "" "DNAH11(NM_001277115.1):c.3112A>G (p.T1038A), DNAH11(NM_001277115.2):c.3112A>G (p.T1038A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21600787A>G" "" "benign" "" "0000253450" "0" "10" "7" "21603886" "21603886" "subst" "0.125141" "01943" "DNAH11_000011" "g.21603886A>G" "" "" "" "DNAH11(NM_001277115.1):c.1065A>G (p.P355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564268A>G" "" "benign" "" "0000253451" "0" "10" "7" "21639572" "21639572" "subst" "0.0470726" "01943" "DNAH11_000137" "g.21639572A>G" "" "" "" "DNAH11(NM_001277115.1):c.2835A>G (p.Q945=), DNAH11(NM_001277115.2):c.2835A>G (p.(Gln945=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21599954A>G" "" "benign" "" "0000253519" "0" "10" "7" "21678643" "21678643" "subst" "0.0443502" "01943" "DNAH11_000047" "g.21678643A>G" "" "" "" "DNAH11(NM_001277115.1):c.4904A>G (p.D1635G), DNAH11(NM_001277115.2):c.4904A>G (p.(Asp1635Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21639025A>G" "" "benign" "" "0000253595" "0" "10" "7" "21940823" "21940823" "subst" "0.0669666" "01943" "CDCA7L_000006" "g.21940823A>G" "" "" "" "DNAH11(NM_001277115.1):c.13502A>G (p.K4501R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21901205A>G" "" "benign" "" "0000253673" "0" "10" "7" "21628197" "21628197" "subst" "0.146434" "01943" "DNAH11_000018" "g.21628197A>G" "" "" "" "DNAH11(NM_001277115.1):c.1916A>G (p.Q639R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21588579A>G" "" "benign" "" "0000253813" "0" "10" "7" "21723573" "21723573" "subst" "0.209836" "01943" "DNAH11_000052" "g.21723573A>T" "" "" "" "DNAH11(NM_001277115.1):c.5621+11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21683955A>T" "" "benign" "" "0000253814" "0" "10" "7" "21745061" "21745061" "subst" "0.365435" "01943" "DNAH11_000062" "g.21745061A>G" "" "" "" "DNAH11(NM_001277115.1):c.6469-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21705443A>G" "" "benign" "" "0000253815" "0" "10" "7" "21789431" "21789431" "subst" "0.000555147" "01943" "DNAH11_000085" "g.21789431A>G" "" "" "" "DNAH11(NM_001277115.1):c.8797+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21749813A>G" "" "benign" "" "0000254337" "0" "30" "7" "21904178" "21904178" "subst" "1.22838E-5" "01943" "DNAH11_000115" "g.21904178A>G" "" "" "" "DNAH11(NM_001277115.1):c.11399A>G (p.D3800G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21864560A>G" "" "likely benign" "" "0000254714" "0" "30" "7" "21654825" "21654825" "subst" "0.0029024" "01943" "DNAH11_000034" "g.21654825A>G" "" "" "" "DNAH11(NM_001277115.1):c.3946A>G (p.M1316V, p.(Met1316Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21615207A>G" "" "likely benign" "" "0000255244" "0" "30" "7" "21675482" "21675482" "subst" "0.00419532" "01943" "DNAH11_000042" "g.21675482A>T" "" "" "" "DNAH11(NM_001277115.1):c.4501-7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21635864A>T" "" "likely benign" "" "0000255245" "0" "30" "7" "21742429" "21742429" "subst" "0.000605161" "01943" "DNAH11_000058" "g.21742429A>G" "" "" "" "DNAH11(NM_001277115.1):c.6273+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21702811A>G" "" "likely benign" "" "0000255876" "0" "50" "7" "21747447" "21747447" "subst" "0" "01943" "DNAH11_000063" "g.21747447A>G" "" "" "" "DNAH11(NM_001277115.1):c.6677A>G (p.D2226G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21707829A>G" "" "VUS" "" "0000255981" "0" "50" "7" "21813391" "21813391" "subst" "0.000844135" "01943" "DNAH11_000092" "g.21813391A>G" "" "" "" "DNAH11(NM_001277115.1):c.9110A>G (p.H3037R), DNAH11(NM_001277115.2):c.9110A>G (p.(His3037Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21773773A>G" "" "VUS" "" "0000256016" "0" "50" "7" "21598500" "21598500" "subst" "0.0256127" "01943" "DNAH11_000008" "g.21598500A>G" "" "" "" "DNAH11(NM_001277115.1):c.576A>G (p.I192M), DNAH11(NM_001277115.2):c.576A>G (p.(Ile192Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21558882A>G" "" "VUS" "" "0000256170" "0" "50" "7" "21894071" "21894071" "subst" "0.00190851" "01943" "DNAH11_000108" "g.21894071A>C" "" "" "" "DNAH11(NM_001277115.1):c.11200A>C (p.K3734Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854453A>C" "" "VUS" "" "0000256422" "0" "50" "7" "21657343" "21657343" "subst" "0.002345" "01943" "DNAH11_000035" "g.21657343A>G" "" "" "" "DNAH11(NM_001277115.1):c.4202A>G (p.Q1401R, p.(Gln1401Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21617725A>G" "" "VUS" "" "0000256434" "0" "50" "7" "21781702" "21781702" "subst" "0.000223579" "01943" "DNAH11_000079" "g.21781702A>G" "" "" "" "DNAH11(NM_001277115.1):c.8072A>G (p.Q2691R, p.(Gln2691Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21742084A>G" "" "VUS" "" "0000267442" "0" "10" "7" "21582963" "21582963" "subst" "0.437773" "02325" "DNAH11_000002" "g.21582963G>T" "" "" "" "DNAH11(NM_001277115.1):c.100G>T (p.E34*), DNAH11(NM_001277115.2):c.100G>T (p.E34*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21543345G>T" "" "benign" "" "0000267443" "0" "10" "7" "21856151" "21856151" "subst" "0.418878" "02325" "DNAH11_000101" "g.21856151G>A" "" "" "" "DNAH11(NM_001277115.1):c.10399G>A (p.A3467T), DNAH11(NM_001277115.2):c.10399G>A (p.A3467T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21816533G>A" "" "benign" "" "0000267444" "0" "10" "7" "21893993" "21893993" "subst" "0.570897" "02325" "DNAH11_000107" "g.21893993G>T" "" "" "" "DNAH11(NM_001277115.1):c.11122G>T (p.V3708L), DNAH11(NM_001277115.2):c.11122G>T (p.V3708L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854375G>T" "" "benign" "" "0000267445" "0" "10" "7" "21901566" "21901566" "subst" "0.721243" "02325" "DNAH11_000113" "g.21901566T>C" "" "" "" "DNAH11(NM_001277115.1):c.11298T>C (p.H3766=), DNAH11(NM_001277115.2):c.11298T>C (p.H3766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21861948T>C" "" "benign" "" "0000267446" "0" "10" "7" "21939032" "21939032" "subst" "0.277095" "02325" "DNAH11_000131" "g.21939032C>A" "" "" "" "DNAH11(NM_001277115.1):c.13128C>A (p.L4376=), DNAH11(NM_001277115.2):c.13128C>A (p.L4376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21899414C>A" "" "benign" "" "0000267447" "0" "10" "7" "21628237" "21628237" "subst" "0.990451" "02325" "DNAH11_000019" "g.21628237C>T" "" "" "" "DNAH11(NM_001277115.1):c.1956C>T (p.F652=), DNAH11(NM_001277115.2):c.1956C>T (p.F652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21588619C>T" "" "benign" "" "0000267449" "0" "10" "7" "21659645" "21659645" "subst" "0.387593" "02325" "DNAH11_000041" "g.21659645T>C" "" "" "" "DNAH11(NM_001277115.1):c.4449T>C (p.I1483=), DNAH11(NM_001277115.2):c.4449T>C (p.I1483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21620027T>C" "" "benign" "" "0000267450" "0" "10" "7" "21599233" "21599233" "subst" "0.445949" "02325" "DNAH11_000009" "g.21599233C>T" "" "" "" "DNAH11(NM_001277115.1):c.705C>T (p.N235=), DNAH11(NM_001277115.2):c.705C>T (p.N235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21559615C>T" "" "benign" "" "0000267451" "0" "10" "7" "21765452" "21765452" "subst" "0.453695" "02325" "DNAH11_000065" "g.21765452C>T" "" "" "" "DNAH11(NM_001277115.1):c.7290C>T (p.F2430=), DNAH11(NM_001277115.2):c.7290C>T (p.F2430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21725834C>T" "" "benign" "" "0000267452" "0" "10" "7" "21775443" "21775443" "subst" "0.826182" "02325" "DNAH11_000072" "g.21775443G>A" "" "" "" "DNAH11(NM_001277115.1):c.7626G>A (p.T2542=), DNAH11(NM_001277115.2):c.7626G>A (p.T2542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21735825G>A" "" "benign" "" "0000267453" "0" "10" "7" "21778449" "21778449" "subst" "0.613044" "02325" "DNAH11_000076" "g.21778449C>T" "" "" "" "DNAH11(NM_001277115.1):c.7776C>T (p.H2592=), DNAH11(NM_001277115.2):c.7776C>T (p.H2592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21738831C>T" "" "benign" "" "0000268697" "0" "50" "7" "21847509" "21847509" "subst" "3.27678E-5" "02329" "DNAH11_000100" "g.21847509C>T" "" "" "" "DNAH11(NM_001277115.1):c.10174C>T (p.R3392C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21807891C>T" "" "VUS" "" "0000268698" "0" "50" "7" "21934379" "21934379" "subst" "0" "02329" "DNAH11_000124" "g.21934379C>T" "" "" "" "DNAH11(NM_001277115.1):c.12889C>T (p.R4297W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21894761C>T" "" "VUS" "" "0000275173" "0" "10" "7" "21582963" "21582964" "delins" "0" "01943" "DNAH11_000003" "g.21582963_21582964delinsTT" "" "" "" "DNAH11(NM_001277115.1):c.100_101delGAinsTT (p.E34L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21543345_21543346delinsTT" "" "benign" "" "0000275174" "0" "10" "7" "21582963" "21582963" "subst" "0.437773" "01943" "DNAH11_000002" "g.21582963G>T" "" "" "" "DNAH11(NM_001277115.1):c.100G>T (p.E34*), DNAH11(NM_001277115.2):c.100G>T (p.E34*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21543345G>T" "" "benign" "" "0000275175" "0" "30" "7" "21840853" "21840853" "subst" "0.000105819" "01943" "DNAH11_000099" "g.21840853C>G" "" "" "" "DNAH11(NM_001277115.1):c.10125C>G (p.T3375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21801235C>G" "" "likely benign" "" "0000275176" "0" "10" "7" "21856151" "21856151" "subst" "0.418878" "01943" "DNAH11_000101" "g.21856151G>A" "" "" "" "DNAH11(NM_001277115.1):c.10399G>A (p.A3467T), DNAH11(NM_001277115.2):c.10399G>A (p.A3467T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21816533G>A" "" "benign" "" "0000275177" "0" "30" "7" "21882155" "21882155" "subst" "0.000245228" "01943" "DNAH11_000103" "g.21882155C>T" "" "" "" "DNAH11(NM_001277115.1):c.10692-7C>T, DNAH11(NM_001277115.2):c.10692-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842537C>T" "" "likely benign" "" "0000275178" "0" "30" "7" "21603893" "21603893" "subst" "1.62847E-5" "01943" "DNAH11_000012" "g.21603893C>T" "" "" "" "DNAH11(NM_001277115.1):c.1072C>T (p.R358C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564275C>T" "" "likely benign" "" "0000275179" "0" "50" "7" "21882209" "21882209" "subst" "0.00873778" "01943" "DNAH11_000104" "g.21882209G>A" "" "" "" "DNAH11(NM_001277115.1):c.10739G>A (p.R3580H, p.(Arg3580His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842591G>A" "" "VUS" "" "0000275180" "0" "50" "7" "21893978" "21893978" "subst" "0.000284574" "01943" "DNAH11_000106" "g.21893978G>C" "" "" "" "DNAH11(NM_001277115.1):c.11107G>C (p.E3703Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854360G>C" "" "VUS" "" "0000275181" "0" "10" "7" "21893993" "21893993" "subst" "0.570897" "01943" "DNAH11_000107" "g.21893993G>T" "" "" "" "DNAH11(NM_001277115.1):c.11122G>T (p.V3708L), DNAH11(NM_001277115.2):c.11122G>T (p.V3708L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854375G>T" "" "benign" "" "0000275182" "0" "10" "7" "21894086" "21894086" "subst" "0.0909688" "01943" "DNAH11_000110" "g.21894086G>A" "" "" "" "DNAH11(NM_001277115.1):c.11202+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854468G>A" "" "benign" "" "0000275183" "0" "10" "7" "21894080" "21894080" "subst" "0.0424321" "01943" "DNAH11_000109" "g.21894080C>A" "" "" "" "DNAH11(NM_001277115.1):c.11202+7C>A, DNAH11(NM_001277115.2):c.11202+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21854462C>A" "" "benign" "" "0000275184" "0" "10" "7" "21901540" "21901540" "subst" "0.0393628" "01943" "DNAH11_000111" "g.21901540T>C" "" "" "" "DNAH11(NM_001277115.1):c.11272T>C (p.S3758P, p.(Ser3758Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21861922T>C" "" "benign" "" "0000275185" "0" "50" "7" "21901545" "21901545" "subst" "0.00030533" "01943" "DNAH11_000112" "g.21901545C>G" "" "" "" "DNAH11(NM_001277115.1):c.11277C>G (p.I3759M, p.(Ile3759Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21861927C>G" "" "VUS" "" "0000275186" "0" "10" "7" "21901566" "21901566" "subst" "0.721243" "01943" "DNAH11_000113" "g.21901566T>C" "" "" "" "DNAH11(NM_001277115.1):c.11298T>C (p.H3766=), DNAH11(NM_001277115.2):c.11298T>C (p.H3766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21861948T>C" "" "benign" "" "0000275187" "0" "10" "7" "21901593" "21901593" "subst" "0.0911643" "01943" "DNAH11_000114" "g.21901593G>A" "" "" "" "DNAH11(NM_001277115.1):c.11325G>A (p.A3775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21861975G>A" "" "benign" "" "0000275188" "0" "30" "7" "21906171" "21906171" "subst" "1.6261E-5" "01943" "DNAH11_000116" "g.21906171C>T" "" "" "" "DNAH11(NM_001277115.1):c.11580C>T (p.S3860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21866553C>T" "" "likely benign" "" "0000275189" "0" "30" "7" "21604072" "21604072" "subst" "0" "01943" "DNAH11_000014" "g.21604072C>T" "" "" "" "DNAH11(NM_001277115.1):c.1194+57C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564454C>T" "" "likely benign" "" "0000275190" "0" "10" "7" "21609691" "21609691" "subst" "0.0396046" "01943" "DNAH11_000015" "g.21609691C>T" "" "" "" "DNAH11(NM_001277115.1):c.1199C>T (p.T400I), DNAH11(NM_001277115.2):c.1199C>T (p.(Thr400Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21570073C>T" "" "benign" "" "0000275191" "0" "30" "7" "21913098" "21913098" "subst" "0.00111076" "01943" "DNAH11_000118" "g.21913098C>T" "" "" "" "DNAH11(NM_001277115.1):c.12174C>T (p.A4058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21873480C>T" "" "likely benign" "" "0000275192" "0" "10" "7" "21920412" "21920412" "subst" "0.00709277" "01943" "DNAH11_000119" "g.21920412G>A" "" "" "" "DNAH11(NM_001277115.1):c.12288G>A (p.R4096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21880794G>A" "" "benign" "" "0000275193" "0" "30" "7" "21920452" "21920452" "subst" "0.000166667" "01943" "DNAH11_000120" "g.21920452C>A" "" "" "" "DNAH11(NM_001277115.1):c.12328C>A (p.P4110T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21880834C>A" "" "likely benign" "" "0000275194" "0" "50" "7" "21923927" "21923927" "subst" "5.76986E-5" "01943" "DNAH11_000121" "g.21923927C>T" "" "" "" "DNAH11(NM_001277115.1):c.12406C>T (p.R4136C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21884309C>T" "" "VUS" "" "0000275195" "0" "50" "7" "21932167" "21932167" "subst" "0.00148662" "01943" "DNAH11_000123" "g.21932167C>T" "" "" "" "DNAH11(NM_001277115.1):c.12632C>T (p.P4211L), DNAH11(NM_001277115.2):c.12632C>T (p.(Pro4211Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21892549C>T" "" "VUS" "" "0000275196" "0" "30" "7" "21934389" "21934389" "subst" "0.000490729" "01943" "DNAH11_000125" "g.21934389G>A" "" "" "" "DNAH11(NM_001277115.1):c.12899G>A (p.R4300H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21894771G>A" "" "likely benign" "" "0000275197" "0" "50" "7" "21934511" "21934511" "subst" "0.0239714" "01943" "DNAH11_000126" "g.21934511G>A" "" "" "" "DNAH11(NM_001277115.1):c.12943G>A (p.A4315T), DNAH11(NM_001277115.2):c.12943G>A (p.(Ala4315Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21894893G>A" "" "VUS" "" "0000275198" "0" "30" "7" "21938944" "21938944" "subst" "0" "01943" "DNAH11_000128" "g.21938944C>G" "" "" "" "DNAH11(NM_001277115.1):c.13050-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21899326C>G" "" "likely benign" "" "0000275199" "0" "30" "7" "21938942" "21938942" "subst" "0.000516117" "01943" "DNAH11_000127" "g.21938942C>T" "" "" "" "DNAH11(NM_001277115.1):c.13050-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21899324C>T" "" "likely benign" "" "0000275200" "0" "90" "7" "21939007" "21939008" "del" "0" "01943" "DNAH11_000129" "g.21939007_21939008del" "" "" "" "DNAH11(NM_001277115.1):c.13103_13104delTT (p.L4368Hfs*30), DNAH11(NM_001277115.2):c.13103_13104del (p.(Leu4368Hisfs*30)), DNAH11(NM_001277115.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21899389_21899390del" "" "pathogenic" "" "0000275201" "0" "30" "7" "21939017" "21939017" "subst" "0.000268267" "01943" "DNAH11_000130" "g.21939017G>C" "" "" "" "DNAH11(NM_001277115.1):c.13113G>C (p.P4371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21899399G>C" "" "likely benign" "" "0000275202" "0" "10" "7" "21939032" "21939032" "subst" "0.277095" "01943" "DNAH11_000131" "g.21939032C>A" "" "" "" "DNAH11(NM_001277115.1):c.13128C>A (p.L4376=), DNAH11(NM_001277115.2):c.13128C>A (p.L4376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21899414C>A" "" "benign" "" "0000275203" "0" "50" "7" "21939627" "21939627" "subst" "0" "01943" "DNAH11_000132" "g.21939627G>C" "" "" "" "DNAH11(NM_001277115.1):c.13192G>C (p.E4398Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21900009G>C" "" "VUS" "" "0000275204" "0" "30" "7" "21939698" "21939698" "subst" "0.0111055" "01943" "DNAH11_000134" "g.21939698G>C" "" "" "" "DNAH11(NM_001277115.1):c.13263G>C (p.P4421=), DNAH11(NM_001277115.2):c.13263G>C (p.(Pro4421=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21900080G>C" "" "likely benign" "" "0000275205" "0" "50" "7" "21940642" "21940642" "subst" "0" "01943" "CDCA7L_000001" "g.21940642C>G" "" "" "" "DNAH11(NM_001277115.1):c.13321C>G (p.Q4441E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21901024C>G" "" "VUS" "" "0000275206" "0" "50" "7" "21940694" "21940694" "subst" "0.000101653" "01943" "CDCA7L_000002" "g.21940694C>T" "" "" "" "DNAH11(NM_001277115.1):c.13373C>T (p.P4458L), DNAH11(NM_001277115.2):c.13373C>T (p.P4458L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21901076C>T" "" "VUS" "" "0000275207" "0" "50" "7" "21940816" "21940816" "subst" "0.00464758" "01943" "CDCA7L_000005" "g.21940816G>A" "" "" "" "DNAH11(NM_001277115.1):c.13495G>A (p.E4499K, p.(Glu4499Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21901198G>A" "" "VUS" "" "0000275208" "0" "10" "7" "21940868" "21940868" "subst" "0.00686925" "01943" "CDCA7L_000007" "g.21940868C>T" "" "" "" "DNAH11(NM_001277115.1):c.13547C>T (p.A4516V, p.(Ala4516Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21901250C>T" "" "benign" "" "0000275209" "0" "10" "7" "21611415" "21611415" "subst" "0.00628155" "01943" "DNAH11_000016" "g.21611415T>C" "" "" "" "DNAH11(NM_001277115.1):c.1426-9T>C, DNAH11(NM_001277115.2):c.1426-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21571797T>C" "" "benign" "" "0000275210" "0" "10" "7" "21628237" "21628237" "subst" "0.990451" "01943" "DNAH11_000019" "g.21628237C>T" "" "" "" "DNAH11(NM_001277115.1):c.1956C>T (p.F652=), DNAH11(NM_001277115.2):c.1956C>T (p.F652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21588619C>T" "" "benign" "" "0000275211" "0" "10" "7" "21628242" "21628242" "subst" "0.124075" "01943" "DNAH11_000020" "g.21628242C>G" "" "" "" "DNAH11(NM_001277115.1):c.1961C>G (p.S654C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21588624C>G" "" "benign" "" "0000275212" "0" "10" "7" "21630788" "21630788" "subst" "0.013924" "01943" "DNAH11_000021" "g.21630788G>T" "" "" "" "DNAH11(NM_001277115.1):c.2275-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21591170G>T" "" "benign" "" "0000275213" "0" "30" "7" "21630907" "21630907" "subst" "2.85801E-5" "01943" "DNAH11_000022" "g.21630907C>T" "" "" "" "DNAH11(NM_001277115.1):c.2379C>T (p.D793=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21591289C>T" "" "likely benign" "" "0000275214" "0" "50" "7" "21631070" "21631070" "subst" "0.00175995" "01943" "DNAH11_000024" "g.21631070G>A" "" "" "" "DNAH11(NM_001277115.1):c.2542G>A (p.V848M, p.(Val848Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21591452G>A" "" "VUS" "" "0000275215" "0" "30" "7" "21639509" "21639509" "subst" "0.000159168" "01943" "DNAH11_000025" "g.21639509G>A" "" "" "" "DNAH11(NM_001277115.1):c.2772G>A (p.M924I, p.(Met924Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21599891G>A" "" "likely benign" "" "0000275216" "0" "10" "7" "21640361" "21640361" "subst" "0.355082" "01943" "DNAH11_000027" "g.21640361T>C" "" "" "" "DNAH11(NM_001277115.1):c.3068T>C (p.V1023A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21600743T>C" "" "benign" "" "0000275217" "0" "10" "7" "21640618" "21640618" "subst" "0.116499" "01943" "DNAH11_000029" "g.21640618C>G" "" "" "" "DNAH11(NM_001277115.1):c.3256-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21601000C>G" "" "benign" "" "0000275218" "0" "10" "7" "21584693" "21584693" "subst" "0.00612474" "01943" "DNAH11_000005" "g.21584693G>T" "" "" "" "DNAH11(NM_001277115.1):c.421G>T (p.D141Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21545075G>T" "" "benign" "" "0000275219" "0" "30" "7" "21658816" "21658816" "subst" "1.22424E-5" "01943" "DNAH11_000036" "g.21658816G>A" "" "" "" "DNAH11(NM_001277115.1):c.4353G>A (p.A1451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21619198G>A" "" "likely benign" "" "0000275221" "0" "10" "7" "21659645" "21659645" "subst" "0.387593" "01943" "DNAH11_000041" "g.21659645T>C" "" "" "" "DNAH11(NM_001277115.1):c.4449T>C (p.I1483=), DNAH11(NM_001277115.2):c.4449T>C (p.I1483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21620027T>C" "" "benign" "" "0000275222" "0" "30" "7" "21677214" "21677214" "subst" "0.0205057" "01943" "DNAH11_000044" "g.21677214T>C" "" "" "" "DNAH11(NM_001277115.1):c.4726-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21637596T>C" "" "likely benign" "" "0000275223" "0" "10" "7" "21723431" "21723431" "subst" "0.129486" "01943" "DNAH11_000051" "g.21723431G>A" "" "" "" "DNAH11(NM_001277115.1):c.5490G>A (p.L1830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21683813G>A" "" "benign" "" "0000275224" "0" "10" "7" "21582917" "21582917" "subst" "0.0997531" "01943" "DNAH11_000001" "g.21582917C>T" "" "" "" "DNAH11(NM_001277115.1):c.54C>T (p.T18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21543299C>T" "" "benign" "" "0000275225" "0" "50" "7" "21726817" "21726817" "subst" "0" "01943" "DNAH11_000053" "g.21726817C>G" "" "" "" "DNAH11(NM_001277115.1):c.5722C>G (p.R1908G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21687199C>G" "" "VUS" "" "0000275226" "0" "50" "7" "21737740" "21737740" "subst" "8.13564E-6" "01943" "DNAH11_000057" "g.21737740T>C" "" "" "" "DNAH11(NM_001277115.1):c.6089T>C (p.L2030S, p.(Leu2030Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21698122T>C" "" "VUS" "" "0000275227" "0" "10" "7" "21744039" "21744039" "subst" "0.388486" "01943" "DNAH11_000059" "g.21744039T>G" "" "" "" "DNAH11(NM_001277115.1):c.6274-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21704421T>G" "" "benign" "" "0000275228" "0" "10" "7" "21744047" "21744047" "subst" "0.000329969" "01943" "DNAH11_000060" "g.21744047T>C" "" "" "" "DNAH11(NM_001277115.1):c.6274-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21704429T>C" "" "benign" "" "0000275229" "0" "10" "7" "21744194" "21744194" "subst" "0.0011523" "01943" "DNAH11_000061" "g.21744194G>A" "" "" "" "DNAH11(NM_001277115.1):c.6416G>A (p.R2139K, p.(Arg2139Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21704576G>A" "" "benign" "" "0000275230" "0" "10" "7" "21599233" "21599233" "subst" "0.445949" "01943" "DNAH11_000009" "g.21599233C>T" "" "" "" "DNAH11(NM_001277115.1):c.705C>T (p.N235=), DNAH11(NM_001277115.2):c.705C>T (p.N235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21559615C>T" "" "benign" "" "0000275231" "0" "10" "7" "21765452" "21765452" "subst" "0.453695" "01943" "DNAH11_000065" "g.21765452C>T" "" "" "" "DNAH11(NM_001277115.1):c.7290C>T (p.F2430=), DNAH11(NM_001277115.2):c.7290C>T (p.F2430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21725834C>T" "" "benign" "" "0000275232" "0" "50" "7" "21765480" "21765480" "subst" "0" "01943" "DNAH11_000066" "g.21765480G>A" "" "" "" "DNAH11(NM_001277115.1):c.7318G>A (p.A2440T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21725862G>A" "" "VUS" "" "0000275233" "0" "10" "7" "21765497" "21765497" "subst" "0.189972" "01943" "DNAH11_000067" "g.21765497G>A" "" "" "" "DNAH11(NM_001277115.1):c.7335G>A (p.S2445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21725879G>A" "" "benign" "" "0000275234" "0" "50" "7" "21775289" "21775289" "subst" "8.56304E-5" "01943" "DNAH11_000068" "g.21775289G>A" "" "" "" "DNAH11(NM_001277115.1):c.7472G>A (p.R2491H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21735671G>A" "" "VUS" "" "0000275235" "0" "10" "7" "21775369" "21775369" "subst" "0.026799" "01943" "DNAH11_000069" "g.21775369G>A" "" "" "" "DNAH11(NM_001277115.1):c.7552G>A (p.V2518I), DNAH11(NM_001277115.2):c.7552G>A (p.(Val2518Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21735751G>A" "" "benign" "" "0000275236" "0" "10" "7" "21775387" "21775387" "subst" "0.0967391" "01943" "DNAH11_000071" "g.21775387T>C" "" "" "" "DNAH11(NM_001277115.1):c.7570T>C (p.L2524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21735769T>C" "" "benign" "" "0000275237" "0" "10" "7" "21775443" "21775443" "subst" "0.826182" "01943" "DNAH11_000072" "g.21775443G>A" "" "" "" "DNAH11(NM_001277115.1):c.7626G>A (p.T2542=), DNAH11(NM_001277115.2):c.7626G>A (p.T2542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21735825G>A" "" "benign" "" "0000275238" "0" "30" "7" "21775443" "21775443" "subst" "0.0029392" "01943" "DNAH11_000073" "g.21775443G>T" "" "" "" "DNAH11(NM_001277115.1):c.7626G>T (p.T2542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21735825G>T" "" "likely benign" "" "0000275239" "0" "10" "7" "21778429" "21778429" "subst" "0.0373948" "01943" "DNAH11_000074" "g.21778429T>C" "" "" "" "DNAH11(NM_001277115.1):c.7756T>C (p.Y2586H), DNAH11(NM_001277115.2):c.7756T>C (p.(Tyr2586His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21738811T>C" "" "benign" "" "0000275240" "0" "50" "7" "21778438" "21778438" "subst" "0" "01943" "DNAH11_000075" "g.21778438G>C" "" "" "" "DNAH11(NM_001277115.1):c.7765G>C (p.V2589L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21738820G>C" "" "VUS" "" "0000275241" "0" "10" "7" "21778449" "21778449" "subst" "0.613044" "01943" "DNAH11_000076" "g.21778449C>T" "" "" "" "DNAH11(NM_001277115.1):c.7776C>T (p.H2592=), DNAH11(NM_001277115.2):c.7776C>T (p.H2592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21738831C>T" "" "benign" "" "0000275242" "0" "10" "7" "21784037" "21784037" "subst" "0.065144" "01943" "DNAH11_000080" "g.21784037C>T" "" "" "" "DNAH11(NM_001277115.1):c.8155-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21744419C>T" "" "benign" "" "0000275243" "0" "30" "7" "21784472" "21784472" "subst" "0.00307119" "01943" "DNAH11_000081" "g.21784472C>G" "" "" "" "DNAH11(NM_001277115.1):c.8317-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21744854C>G" "" "likely benign" "" "0000275244" "0" "30" "7" "21784649" "21784649" "subst" "0.00369281" "01943" "DNAH11_000082" "g.21784649C>T" "" "" "" "DNAH11(NM_001277115.1):c.8478C>T (p.H2826=), DNAH11(NM_001277115.2):c.8478C>T (p.(His2826=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21745031C>T" "" "likely benign" "" "0000275245" "0" "10" "7" "21789439" "21789439" "subst" "0.00618863" "01943" "DNAH11_000086" "g.21789439T>G" "" "" "" "DNAH11(NM_001277115.1):c.8797+20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21749821T>G" "" "benign" "" "0000275246" "0" "50" "7" "21789851" "21789851" "subst" "0.00018626" "01943" "DNAH11_000088" "g.21789851G>A" "" "" "" "DNAH11(NM_001277115.1):c.8809G>A (p.D2937N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21750233G>A" "" "VUS" "" "0000275247" "0" "30" "7" "21805227" "21805240" "delins" "0" "01943" "DNAH11_000091" "g.21805227_21805240delinsAT" "" "" "" "DNAH11(NM_001277115.1):c.9102+20_9102+33delGTCACACACACACAinsAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21765609_21765622delinsAT" "" "likely benign" "" "0000275248" "0" "10" "7" "21805227" "21805227" "subst" "0" "01943" "DNAH11_000090" "g.21805227G>A" "" "" "" "DNAH11(NM_001277115.1):c.9102+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21765609G>A" "" "benign" "" "0000275249" "0" "10" "7" "21818567" "21818567" "subst" "0.00318466" "01943" "DNAH11_000093" "g.21818567T>C" "" "" "" "DNAH11(NM_001277115.1):c.9337-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21778949T>C" "" "benign" "" "0000275250" "0" "30" "7" "21818674" "21818674" "subst" "0.00391" "01943" "DNAH11_000094" "g.21818674G>A" "" "" "" "DNAH11(NM_001277115.1):c.9435G>A (p.T3145=), DNAH11(NM_001277115.2):c.9435G>A (p.(Thr3145=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21779056G>A" "" "likely benign" "" "0000275251" "0" "30" "7" "21818707" "21818707" "subst" "0.00205972" "01943" "DNAH11_000095" "g.21818707T>C" "" "" "" "DNAH11(NM_001277115.1):c.9468T>C (p.D3156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21779089T>C" "" "likely benign" "" "0000275252" "0" "50" "7" "21603812" "21603812" "subst" "0.000130942" "01943" "DNAH11_000010" "g.21603812G>A" "" "" "" "DNAH11(NM_001277115.1):c.991G>A (p.E331K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564194G>A" "" "VUS" "" "0000275253" "0" "30" "7" "21828852" "21828852" "subst" "0.000147719" "01943" "DNAH11_000098" "g.21828852T>C" "" "" "" "DNAH11(NM_001277115.1):c.9925-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21789234T>C" "" "likely benign" "" "0000331450" "0" "50" "7" "21583051" "21583051" "subst" "0.000681036" "01804" "DNAH11_000004" "g.21583051G>C" "" "" "" "DNAH11(NM_003777.3):c.188G>C (p.(Gly63Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21543433G>C" "" "VUS" "" "0000331451" "0" "50" "7" "21584695" "21584695" "subst" "0" "01804" "DNAH11_000006" "g.21584695C>A" "" "" "" "DNAH11(NM_001277115.1):c.423C>A (p.(Asp141Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21545077C>A" "" "VUS" "" "0000331452" "0" "50" "7" "21584706" "21584706" "subst" "4.18477E-6" "01804" "DNAH11_000007" "g.21584706T>A" "" "" "" "DNAH11(NM_003777.3):c.434T>A (p.(Val145Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21545088T>A" "" "VUS" "" "0000331453" "0" "50" "7" "21603969" "21603969" "subst" "8.1594E-6" "01804" "DNAH11_000013" "g.21603969G>A" "" "" "" "DNAH11(NM_001277115.1):c.1148G>A (p.(Arg383Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21564351G>A" "" "VUS" "" "0000331455" "0" "50" "7" "21631070" "21631070" "subst" "0.00175995" "01804" "DNAH11_000024" "g.21631070G>A" "" "" "" "DNAH11(NM_001277115.1):c.2542G>A (p.V848M, p.(Val848Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21591452G>A" "" "VUS" "" "0000331456" "0" "50" "7" "21639509" "21639509" "subst" "0.000159168" "01804" "DNAH11_000025" "g.21639509G>A" "" "" "" "DNAH11(NM_001277115.1):c.2772G>A (p.M924I, p.(Met924Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21599891G>A" "" "VUS" "" "0000331457" "0" "30" "7" "21639540" "21639540" "subst" "4.07442E-6" "01804" "DNAH11_000026" "g.21639540G>A" "" "" "" "DNAH11(NM_001277115.1):c.2803G>A (p.(Glu935Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21599922G>A" "" "likely benign" "" "0000331461" "0" "50" "7" "21654749" "21654749" "subst" "0.000418589" "01804" "DNAH11_000033" "g.21654749G>C" "" "" "" "DNAH11(NM_001277115.1):c.3870G>C (p.(Glu1290Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21615131G>C" "" "VUS" "" "0000331462" "0" "30" "7" "21675482" "21675482" "subst" "0.00419532" "01804" "DNAH11_000042" "g.21675482A>T" "" "" "" "DNAH11(NM_001277115.1):c.4501-7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21635864A>T" "" "likely benign" "" "0000331465" "0" "30" "7" "21698453" "21698453" "subst" "0.000520277" "01804" "DNAH11_000048" "g.21698453A>G" "" "" "" "DNAH11(NM_001277115.1):c.5132A>G (p.(Gln1711Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21658835A>G" "" "likely benign" "" "0000331466" "0" "30" "7" "21698464" "21698464" "subst" "0.000139298" "01804" "DNAH11_000049" "g.21698464C>T" "" "" "" "DNAH11(NM_001277115.1):c.5143C>T (p.(Arg1715Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21658846C>T" "" "likely benign" "" "0000331468" "0" "50" "7" "21727126" "21727126" "subst" "0" "01804" "DNAH11_000054" "g.21727126A>C" "" "" "" "DNAH11(NM_003777.3):c.5927A>C (p.(Ile1976Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21687508A>C" "" "VUS" "" "0000331469" "0" "50" "7" "21730477" "21730477" "subst" "4.084E-6" "01804" "DNAH11_000055" "g.21730477G>A" "" "" "" "DNAH11(NM_001277115.1):c.6019G>A (p.(Glu2007Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21690859G>A" "" "VUS" "" "0000331471" "0" "50" "7" "21744194" "21744194" "subst" "0.0011523" "01804" "DNAH11_000061" "g.21744194G>A" "" "" "" "DNAH11(NM_001277115.1):c.6416G>A (p.R2139K, p.(Arg2139Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21704576G>A" "" "VUS" "" "0000331472" "0" "50" "7" "21750317" "21750317" "subst" "0" "01804" "DNAH11_000064" "g.21750317A>G" "" "" "" "DNAH11(NM_003777.3):c.6852A>G (p.(Asn2284Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21710699A>G" "" "VUS" "" "0000331475" "0" "50" "7" "21789336" "21789336" "subst" "0" "01804" "DNAH11_000084" "g.21789336A>G" "" "" "" "DNAH11(NM_001277115.2):c.8714A>G (p.(Asn2905Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21749718A>G" "" "VUS" "" "0000331476" "0" "30" "7" "21789835" "21789835" "subst" "0.00388442" "01804" "DNAH11_000087" "g.21789835G>A" "" "" "" "DNAH11(NM_001277115.1):c.8798-5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21750217G>A" "" "likely benign" "" "0000331477" "0" "10" "7" "21805215" "21805215" "subst" "0" "01804" "DNAH11_000089" "g.21805215G>A" "" "" "" "DNAH11(NM_001277115.2):c.9102+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21765597G>A" "" "benign" "" "0000331478" "0" "50" "7" "21827050" "21827050" "subst" "0.000279105" "01804" "DNAH11_000096" "g.21827050A>G" "" "" "" "DNAH11(NM_003777.3):c.9795A>G (p.(Tyr3265Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21787432A>G" "" "VUS" "" "0000331479" "0" "50" "7" "21857881" "21857881" "subst" "0" "01804" "DNAH11_000102" "g.21857881T>G" "" "" "" "DNAH11(NM_001277115.1):c.10615T>G (p.(Leu3539Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21818263T>G" "" "VUS" "" "0000331480" "0" "50" "7" "21882347" "21882347" "subst" "0.00238454" "01804" "DNAH11_000105" "g.21882347C>A" "" "" "" "DNAH11(NM_003777.3):c.10899C>A (p.(Pro3633Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21842729C>A" "" "VUS" "" "0000331481" "0" "30" "7" "21901545" "21901545" "subst" "0.00030533" "01804" "DNAH11_000112" "g.21901545C>G" "" "" "" "DNAH11(NM_001277115.1):c.11277C>G (p.I3759M, p.(Ile3759Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21861927C>G" "" "likely benign" "" "0000331482" "0" "30" "7" "21939648" "21939648" "subst" "0.000121914" "01804" "DNAH11_000133" "g.21939648C>T" "" "" "" "DNAH11(NM_001277115.1):c.13213C>T (p.(Arg4405Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21900030C>T" "" "likely benign" "" "0000331484" "0" "30" "7" "21940816" "21940816" "subst" "0.00464758" "01804" "CDCA7L_000005" "g.21940816G>A" "" "" "" "DNAH11(NM_001277115.1):c.13495G>A (p.E4499K, p.(Glu4499Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21901198G>A" "" "likely benign" "" "0000342222" "0" "90" "7" "21742391" "21742391" "subst" "2.85209E-5" "02327" "DNAH11_000135" "g.21742391C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21702773C>T" "" "pathogenic" "" "0000348831" "0" "50" "7" "21745115" "21745115" "subst" "7.31731E-5" "02327" "DNAH11_000136" "g.21745115C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21705497C>T" "" "VUS" "" "0000470947" "1" "70" "7" "21640338" "21640338" "subst" "0.00302981" "00006" "DNAH11_000138" "g.21640338G>T" "" "{PMID:van Kuilenburg 2018:2969193}, {DOI:van Kuilenburg 2018:10.1002/humu.23538}" "" "" "" "Germline" "" "rs72657303" "0" "" "" "g.21600720G>T" "" "VUS" "" "0000470948" "2" "70" "7" "21727045" "21727045" "subst" "0" "00006" "DNAH11_000139" "g.21727045G>C" "" "{PMID:van Kuilenburg 2018:2969193}, {DOI:van Kuilenburg 2018:10.1002/humu.23538}" "" "" "" "Germline" "" "" "0" "" "" "g.21687427G>C" "" "VUS" "" "0000531604" "0" "10" "7" "21582964" "21582964" "subst" "0.437691" "02325" "CDCA7L_000009" "g.21582964A>T" "" "" "" "DNAH11(NM_001277115.2):c.101A>T (p.E34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21543346A>T" "" "benign" "" "0000531605" "0" "10" "7" "21598500" "21598500" "subst" "0.0256127" "01804" "DNAH11_000008" "g.21598500A>G" "" "" "" "DNAH11(NM_001277115.1):c.576A>G (p.I192M), DNAH11(NM_001277115.2):c.576A>G (p.(Ile192Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21558882A>G" "" "benign" "" "0000531606" "0" "30" "7" "21598585" "21598585" "subst" "0.00140016" "01943" "CDCA7L_000010" "g.21598585A>T" "" "" "" "DNAH11(NM_001277115.1):c.661A>T (p.M221L), DNAH11(NM_001277115.2):c.661A>T (p.(Met221Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21558967A>T" "" "likely benign" "" "0000531607" "0" "30" "7" "21599223" "21599223" "subst" "0.000338469" "01943" "CDCA7L_000011" "g.21599223C>T" "" "" "" "DNAH11(NM_001277115.1):c.695C>T (p.P232L, p.(Pro232Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21559605C>T" "" "likely benign" "" "0000531608" "0" "30" "7" "21599223" "21599223" "subst" "0.000338469" "01804" "CDCA7L_000011" "g.21599223C>T" "" "" "" "DNAH11(NM_001277115.1):c.695C>T (p.P232L, p.(Pro232Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21559605C>T" "" "likely benign" "" "0000531609" "0" "30" "7" "21600745" "21600745" "subst" "0.00462546" "01943" "CDCA7L_000012" "g.21600745C>T" "" "" "" "DNAH11(NM_001277115.1):c.939C>T (p.S313=), DNAH11(NM_001277115.2):c.939C>T (p.(Ser313=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21561127C>T" "" "likely benign" "" "0000531612" "0" "30" "7" "21611420" "21611420" "subst" "0" "01943" "CDCA7L_000015" "g.21611420A>G" "" "" "" "DNAH11(NM_001277115.1):c.1426-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21571802A>G" "" "likely benign" "" "0000531613" "0" "50" "7" "21611476" "21611476" "subst" "4.08003E-6" "02329" "CDCA7L_000016" "g.21611476G>A" "" "" "" "DNAH11(NM_001277115.1):c.1478G>A (p.G493D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21571858G>A" "" "VUS" "" "0000531614" "0" "50" "7" "21611584" "21611584" "subst" "8.31109E-5" "01943" "CDCA7L_000017" "g.21611584C>G" "" "" "" "DNAH11(NM_001277115.1):c.1586C>G (p.T529S, p.(Thr529Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21571966C>G" "" "VUS" "" "0000531615" "0" "30" "7" "21611584" "21611584" "subst" "8.31109E-5" "01804" "CDCA7L_000017" "g.21611584C>G" "" "" "" "DNAH11(NM_001277115.1):c.1586C>G (p.T529S, p.(Thr529Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21571966C>G" "" "likely benign" "" "0000531616" "0" "10" "7" "21621631" "21621631" "subst" "0.0396204" "01943" "CDCA7L_000018" "g.21621631G>A" "" "" "" "DNAH11(NM_001277115.1):c.1702G>A (p.A568T), DNAH11(NM_001277115.2):c.1702G>A (p.(Ala568Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21582013G>A" "" "benign" "" "0000531617" "0" "70" "7" "21627817" "21627817" "subst" "0" "02329" "CDCA7L_000019" "g.21627817C>T" "" "" "" "DNAH11(NM_001277115.2):c.1846C>T (p.Q616*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21588199C>T" "" "likely pathogenic" "" "0000531619" "0" "50" "7" "21640728" "21640728" "subst" "0.000169303" "01943" "CDCA7L_000021" "g.21640728G>A" "" "" "" "DNAH11(NM_001277115.1):c.3356G>A (p.S1119N), DNAH11(NM_001277115.2):c.3356G>A (p.S1119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21601110G>A" "" "VUS" "" "0000531620" "0" "30" "7" "21641082" "21641082" "subst" "0.000174858" "01943" "CDCA7L_000022" "g.21641082A>G" "" "" "" "DNAH11(NM_001277115.1):c.3494A>G (p.D1165G), DNAH11(NM_001277115.2):c.3494A>G (p.(Asp1165Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21601464A>G" "" "likely benign" "" "0000531621" "0" "10" "7" "21641218" "21641218" "subst" "0.772537" "01943" "CDCA7L_000023" "g.21641218G>A" "" "" "" "DNAH11(NM_001277115.1):c.3630G>A (p.Q1210=), DNAH11(NM_001277115.2):c.3630G>A (p.Q1210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21601600G>A" "" "benign" "" "0000531622" "0" "10" "7" "21641218" "21641218" "subst" "0.772537" "02325" "CDCA7L_000023" "g.21641218G>A" "" "" "" "DNAH11(NM_001277115.1):c.3630G>A (p.Q1210=), DNAH11(NM_001277115.2):c.3630G>A (p.Q1210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21601600G>A" "" "benign" "" "0000531625" "0" "30" "7" "21646255" "21646255" "subst" "0" "01943" "CDCA7L_000026" "g.21646255C>A" "" "" "" "DNAH11(NM_001277115.1):c.3766-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21606637C>A" "" "likely benign" "" "0000531626" "0" "50" "7" "21654880" "21654880" "subst" "0.00145262" "01943" "CDCA7L_000027" "g.21654880T>C" "" "" "" "DNAH11(NM_001277115.1):c.4001T>C (p.I1334T, p.(Ile1334Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21615262T>C" "" "VUS" "" "0000531627" "0" "30" "7" "21654880" "21654880" "subst" "0.00145262" "01804" "CDCA7L_000027" "g.21654880T>C" "" "" "" "DNAH11(NM_001277115.1):c.4001T>C (p.I1334T, p.(Ile1334Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21615262T>C" "" "likely benign" "" "0000531628" "0" "30" "7" "21657343" "21657343" "subst" "0.002345" "01804" "DNAH11_000035" "g.21657343A>G" "" "" "" "DNAH11(NM_001277115.1):c.4202A>G (p.Q1401R, p.(Gln1401Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21617725A>G" "" "likely benign" "" "0000531629" "0" "50" "7" "21658745" "21658745" "subst" "0.00361936" "01943" "CDCA7L_000028" "g.21658745A>G" "" "" "" "DNAH11(NM_001277115.1):c.4282A>G (p.T1428A, p.(Thr1428Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21619127A>G" "" "VUS" "" "0000531630" "0" "30" "7" "21658745" "21658745" "subst" "0.00361936" "01804" "CDCA7L_000028" "g.21658745A>G" "" "" "" "DNAH11(NM_001277115.1):c.4282A>G (p.T1428A, p.(Thr1428Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21619127A>G" "" "likely benign" "" "0000531631" "0" "30" "7" "21658847" "21658847" "subst" "2.05995E-5" "01804" "CDCA7L_000029" "g.21658847T>G" "" "" "" "DNAH11(NM_001277115.1):c.4377+7T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21619229T>G" "" "likely benign" "" "0000531632" "0" "10" "7" "21659557" "21659558" "ins" "0" "01943" "CDCA7L_000030" "g.21659557_21659558insATTTA" "" "" "" "DNAH11(NM_001277115.1):c.4378-20_4378-19insTTAAT, DNAH11(NM_001277115.2):c.4378-17_4378-16insATTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21619939_21619940insATTTA" "" "benign" "" "0000531633" "0" "10" "7" "21659557" "21659558" "ins" "0" "02325" "CDCA7L_000030" "g.21659557_21659558insATTTA" "" "" "" "DNAH11(NM_001277115.1):c.4378-20_4378-19insTTAAT, DNAH11(NM_001277115.2):c.4378-17_4378-16insATTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21619939_21619940insATTTA" "" "benign" "" "0000531634" "0" "30" "7" "21659687" "21659687" "subst" "0.0010522" "01943" "CDCA7L_000031" "g.21659687G>A" "" "" "" "DNAH11(NM_001277115.1):c.4491G>A (p.E1497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21620069G>A" "" "likely benign" "" "0000531637" "0" "30" "7" "21677237" "21677237" "subst" "9.84184E-5" "01804" "CDCA7L_000034" "g.21677237G>C" "" "" "" "DNAH11(NM_001277115.1):c.4734G>C (p.(Met1578Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21637619G>C" "" "likely benign" "" "0000531638" "0" "50" "7" "21678604" "21678604" "subst" "0" "02325" "CDCA7L_000035" "g.21678604G>A" "" "" "" "DNAH11(NM_001277115.2):c.4865G>A (p.R1622H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21638986G>A" "" "VUS" "" "0000531639" "0" "50" "7" "21698563" "21698563" "subst" "1.24096E-5" "01804" "CDCA7L_000036" "g.21698563A>G" "" "" "" "DNAH11(NM_001277115.2):c.5242A>G (p.(Ile1748Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21658945A>G" "" "VUS" "" "0000531640" "0" "90" "7" "21723447" "21723447" "subst" "0" "02329" "CDCA7L_000037" "g.21723447C>T" "" "" "" "DNAH11(NM_001277115.2):c.5506C>T (p.R1836*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21683829C>T" "" "pathogenic" "" "0000531641" "0" "90" "7" "21726874" "21726874" "subst" "1.96665E-5" "02325" "CDCA7L_000038" "g.21726874G>A" "" "" "" "DNAH11(NM_001277115.1):c.5778+1G>A, DNAH11(NM_001277115.2):c.5778+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21687256G>A" "" "pathogenic" "" "0000531643" "0" "50" "7" "21742329" "21742329" "subst" "0" "01943" "CDCA7L_000040" "g.21742329A>G" "" "" "" "DNAH11(NM_001277115.1):c.6182A>G (p.D2061G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21702711A>G" "" "VUS" "" "0000531648" "0" "30" "7" "21745109" "21745109" "subst" "6.09776E-5" "01943" "CDCA7L_000044" "g.21745109G>A" "" "" "" "DNAH11(NM_001277115.1):c.6500G>A (p.R2167Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21705491G>A" "" "likely benign" "" "0000531649" "0" "50" "7" "21757461" "21757461" "subst" "6.90782E-5" "01943" "CDCA7L_000045" "g.21757461A>G" "" "" "" "DNAH11(NM_001277115.1):c.7052A>G (p.D2351G, p.(Asp2351Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21717843A>G" "" "VUS" "" "0000531651" "0" "10" "7" "21775369" "21775369" "subst" "0.026799" "01804" "DNAH11_000069" "g.21775369G>A" "" "" "" "DNAH11(NM_001277115.1):c.7552G>A (p.V2518I), DNAH11(NM_001277115.2):c.7552G>A (p.(Val2518Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21735751G>A" "" "benign" "" "0000531652" "0" "10" "7" "21778429" "21778429" "subst" "0.0373948" "01804" "DNAH11_000074" "g.21778429T>C" "" "" "" "DNAH11(NM_001277115.1):c.7756T>C (p.Y2586H), DNAH11(NM_001277115.2):c.7756T>C (p.(Tyr2586His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21738811T>C" "" "benign" "" "0000531653" "0" "50" "7" "21781653" "21781653" "subst" "0.00171071" "01943" "CDCA7L_000047" "g.21781653A>G" "" "" "" "DNAH11(NM_001277115.1):c.8023A>G (p.I2675V), DNAH11(NM_001277115.2):c.8023A>G (p.(Ile2675Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21742035A>G" "" "VUS" "" "0000531654" "0" "30" "7" "21781653" "21781653" "subst" "0.00171071" "01804" "CDCA7L_000047" "g.21781653A>G" "" "" "" "DNAH11(NM_001277115.1):c.8023A>G (p.I2675V), DNAH11(NM_001277115.2):c.8023A>G (p.(Ile2675Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21742035A>G" "" "likely benign" "" "0000531656" "0" "30" "7" "21784550" "21784550" "subst" "0" "01943" "CDCA7L_000049" "g.21784550G>A" "" "" "" "DNAH11(NM_001277115.1):c.8379G>A (p.G2793=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21744932G>A" "" "likely benign" "" "0000531658" "0" "90" "7" "21789320" "21789320" "subst" "4.06716E-5" "02329" "CDCA7L_000051" "g.21789320C>T" "" "" "" "DNAH11(NM_001277115.2):c.8698C>T (p.R2900*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21749702C>T" "" "pathogenic" "" "0000531659" "0" "50" "7" "21805095" "21805095" "subst" "0.0111613" "01943" "CDCA7L_000052" "g.21805095G>A" "" "" "" "DNAH11(NM_001277115.1):c.8990G>A (p.R2997Q), DNAH11(NM_001277115.2):c.8990G>A (p.(Arg2997Gln), p.R2997Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21765477G>A" "" "VUS" "" "0000531660" "0" "10" "7" "21805095" "21805095" "subst" "0.0111613" "02325" "CDCA7L_000052" "g.21805095G>A" "" "" "" "DNAH11(NM_001277115.1):c.8990G>A (p.R2997Q), DNAH11(NM_001277115.2):c.8990G>A (p.(Arg2997Gln), p.R2997Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21765477G>A" "" "benign" "" "0000531661" "0" "30" "7" "21805203" "21805203" "subst" "0.00387459" "01804" "CDCA7L_000053" "g.21805203T>C" "" "" "" "DNAH11(NM_001277115.1):c.9098T>C (p.(Ile3033Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21765585T>C" "" "likely benign" "" "0000531662" "0" "30" "7" "21813391" "21813391" "subst" "0.000844135" "01804" "DNAH11_000092" "g.21813391A>G" "" "" "" "DNAH11(NM_001277115.1):c.9110A>G (p.H3037R), DNAH11(NM_001277115.2):c.9110A>G (p.(His3037Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21773773A>G" "" "likely benign" "" "0000531663" "0" "90" "7" "21813532" "21813532" "del" "0" "02325" "CDCA7L_000054" "g.21813532del" "" "" "" "DNAH11(NM_001277115.2):c.9251delT (p.L3084Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21773914del" "" "pathogenic" "" "0000531664" "0" "50" "7" "21813606" "21813606" "subst" "5.29094E-5" "01943" "CDCA7L_000055" "g.21813606A>T" "" "" "" "DNAH11(NM_001277115.1):c.9325A>T (p.T3109S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21773988A>T" "" "VUS" "" "0000531665" "0" "30" "7" "21813622" "21813622" "subst" "6.56461E-6" "01804" "CDCA7L_000056" "g.21813622G>C" "" "" "" "DNAH11(NM_001277115.1):c.9336+5G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21774004G>C" "" "likely benign" "" "0000531667" "0" "10" "7" "21824122" "21824122" "subst" "0.124771" "01943" "CDCA7L_000058" "g.21824122G>A" "" "" "" "DNAH11(NM_001277115.1):c.9561G>A (p.L3187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21784504G>A" "" "benign" "" "0000531668" "0" "50" "7" "21826351" "21826351" "subst" "3.6611E-5" "02329" "CDCA7L_000059" "g.21826351G>A" "" "" "" "DNAH11(NM_001277115.1):c.9707G>A (p.R3236Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21786733G>A" "" "VUS" "" "0000531669" "0" "50" "7" "21827060" "21827060" "subst" "0.000703476" "02329" "CDCA7L_000060" "g.21827060G>C" "" "" "" "DNAH11(NM_001277115.1):c.9783G>C (p.E3261D), DNAH11(NM_001277115.2):c.9783G>C (p.(Glu3261Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21787442G>C" "" "VUS" "" "0000531670" "0" "50" "7" "21827101" "21827101" "subst" "8.14166E-6" "01943" "DNAH11_000097" "g.21827101A>C" "" "" "" "DNAH11(NM_001277115.1):c.9824A>C (p.Y3275S), DNAH11(NM_001277115.2):c.9824A>C (p.Y3275S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21787483A>C" "" "VUS" "" "0000531672" "0" "50" "7" "21856224" "21856224" "subst" "0.000651126" "01804" "CDCA7L_000061" "g.21856224G>A" "" "" "" "DNAH11(NM_001277115.1):c.10472G>A (p.R3491H, p.(Arg3491His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21816606G>A" "" "VUS" "" "0000531673" "0" "30" "7" "21857903" "21857903" "subst" "7.76093E-5" "01943" "CDCA7L_000062" "g.21857903C>T" "" "" "" "DNAH11(NM_001277115.1):c.10637C>T (p.T3546M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21818285C>T" "" "likely benign" "" "0000531678" "0" "30" "7" "21894080" "21894080" "subst" "0.0424321" "01804" "DNAH11_000109" "g.21894080C>A" "" "" "" "DNAH11(NM_001277115.1):c.11202+7C>A, DNAH11(NM_001277115.2):c.11202+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21854462C>A" "" "likely benign" "" "0000531679" "0" "30" "7" "21901501" "21901501" "subst" "0.00564059" "01804" "CDCA7L_000064" "g.21901501G>A" "" "" "" "DNAH11(NM_001277115.1):c.11233G>A (p.(Glu3745Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21861883G>A" "" "likely benign" "" "0000531681" "0" "30" "7" "21901540" "21901540" "subst" "0.0393628" "01804" "DNAH11_000111" "g.21901540T>C" "" "" "" "DNAH11(NM_001277115.1):c.11272T>C (p.S3758P, p.(Ser3758Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21861922T>C" "" "likely benign" "" "0000531682" "0" "10" "7" "21907458" "21907458" "subst" "0.608772" "01943" "CDCA7L_000066" "g.21907458A>G" "" "" "" "DNAH11(NM_001277115.1):c.11691-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21867840A>G" "" "benign" "" "0000531683" "0" "70" "7" "21912891" "21912891" "subst" "0" "01943" "CDCA7L_000067" "g.21912891G>C" "" "" "" "DNAH11(NM_001277115.1):c.11968-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21873273G>C" "" "likely pathogenic" "" "0000531684" "0" "50" "7" "21913089" "21913089" "subst" "3.25418E-5" "01943" "CDCA7L_000068" "g.21913089T>A" "" "" "" "DNAH11(NM_001277115.1):c.12165T>A (p.N4055K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21873471T>A" "" "VUS" "" "0000531685" "0" "50" "7" "21920460" "21920460" "subst" "0" "01943" "CDCA7L_000069" "g.21920460C>G" "" "" "" "DNAH11(NM_001277115.1):c.12336C>G (p.D4112E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21880842C>G" "" "VUS" "" "0000531686" "0" "10" "7" "21932044" "21932044" "subst" "0.394917" "01943" "CDCA7L_000070" "g.21932044C>T" "" "" "" "DNAH11(NM_001277115.1):c.12509C>T (p.T4170I), DNAH11(NM_001277115.2):c.12509C>T (p.T4170I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21892426C>T" "" "benign" "" "0000531687" "0" "10" "7" "21932044" "21932044" "subst" "0.394917" "02325" "CDCA7L_000070" "g.21932044C>T" "" "" "" "DNAH11(NM_001277115.1):c.12509C>T (p.T4170I), DNAH11(NM_001277115.2):c.12509C>T (p.T4170I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21892426C>T" "" "benign" "" "0000531688" "0" "30" "7" "21932056" "21932056" "subst" "0.000805996" "01804" "CDCA7L_000071" "g.21932056T>G" "" "" "" "DNAH11(NM_001277115.1):c.12521T>G (p.(Leu4174Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21892438T>G" "" "likely benign" "" "0000531690" "0" "50" "7" "21932167" "21932167" "subst" "0.00148662" "01804" "DNAH11_000123" "g.21932167C>T" "" "" "" "DNAH11(NM_001277115.1):c.12632C>T (p.P4211L), DNAH11(NM_001277115.2):c.12632C>T (p.(Pro4211Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21892549C>T" "" "VUS" "" "0000531692" "0" "10" "7" "21934511" "21934511" "subst" "0.0239714" "01804" "DNAH11_000126" "g.21934511G>A" "" "" "" "DNAH11(NM_001277115.1):c.12943G>A (p.A4315T), DNAH11(NM_001277115.2):c.12943G>A (p.(Ala4315Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21894893G>A" "" "benign" "" "0000531693" "0" "90" "7" "21938973" "21938973" "subst" "8.1244E-6" "02329" "CDCA7L_000074" "g.21938973C>T" "" "" "" "DNAH11(NM_001277115.2):c.13069C>T (p.R4357*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21899355C>T" "" "pathogenic" "" "0000531694" "0" "90" "7" "21939007" "21939008" "del" "0" "02329" "DNAH11_000129" "g.21939007_21939008del" "" "" "" "DNAH11(NM_001277115.1):c.13103_13104delTT (p.L4368Hfs*30), DNAH11(NM_001277115.2):c.13103_13104del (p.(Leu4368Hisfs*30)), DNAH11(NM_001277115.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21899389_21899390del" "" "pathogenic" "" "0000531695" "0" "30" "7" "21939017" "21939017" "subst" "0.000410529" "01943" "CDCA7L_000075" "g.21939017G>A" "" "" "" "DNAH11(NM_001277115.1):c.13113G>A (p.P4371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21899399G>A" "" "likely benign" "" "0000531696" "0" "90" "7" "21940624" "21940624" "subst" "0" "02329" "CDCA7L_000076" "g.21940624G>A" "" "" "" "DNAH11(NM_001277115.2):c.13304-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21901006G>A" "" "pathogenic" "" "0000531697" "0" "30" "7" "21940626" "21940626" "subst" "0.000675616" "01943" "CDCA7L_000077" "g.21940626C>T" "" "" "" "DNAH11(NM_001277115.1):c.13305C>T (p.G4435=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21901008C>T" "" "likely benign" "" "0000531698" "0" "30" "7" "21940626" "21940626" "subst" "0.000675616" "01804" "CDCA7L_000077" "g.21940626C>T" "" "" "" "DNAH11(NM_001277115.1):c.13305C>T (p.G4435=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21901008C>T" "" "likely benign" "" "0000531700" "0" "70" "7" "21940694" "21940694" "subst" "0.000101653" "02329" "CDCA7L_000002" "g.21940694C>T" "" "" "" "DNAH11(NM_001277115.1):c.13373C>T (p.P4458L), DNAH11(NM_001277115.2):c.13373C>T (p.P4458L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21901076C>T" "" "likely pathogenic" "" "0000611017" "0" "50" "7" "21805149" "21805149" "subst" "0" "01943" "CDCA7L_000083" "g.21805149C>A" "" "" "" "DNAH11(NM_001277115.1):c.9044C>A (p.P3015Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21765531C>A" "" "VUS" "" "0000611018" "0" "30" "7" "21824060" "21824060" "subst" "0.000106152" "01804" "CDCA7L_000084" "g.21824060A>C" "" "" "" "DNAH11(NM_001277115.1):c.9499A>C (p.(Thr3167Pro)), DNAH11(NM_001277115.2):c.9499A>C (p.T3167P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21784442A>C" "" "likely benign" "" "0000621871" "0" "50" "7" "21611591" "21611591" "subst" "0" "01943" "CDCA7L_000081" "g.21611591G>T" "" "" "" "DNAH11(NM_001277115.1):c.1593G>T (p.M531I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21571973G>T" "" "VUS" "" "0000621872" "0" "50" "7" "21730468" "21730468" "subst" "0.00020429" "02325" "CDCA7L_000082" "g.21730468G>A" "" "" "" "DNAH11(NM_001277115.2):c.6010G>A (p.E2004K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21690850G>A" "" "VUS" "" "0000621873" "0" "50" "7" "21847563" "21847563" "subst" "0" "01943" "CDCA7L_000085" "g.21847563G>T" "" "" "" "DNAH11(NM_001277115.1):c.10228G>T (p.D3410Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21807945G>T" "" "VUS" "" "0000645289" "21" "90" "7" "21750214" "21750214" "subst" "8.56597E-5" "00006" "DNAH11_000141" "g.21750214C>T" "" "{PMID:Lee 2019:31607746}" "" "" "" "Germline" "" "" "0" "" "" "g.21710596C>T" "{CV:000622140.1}" "pathogenic (recessive)" "" "0000645327" "11" "70" "7" "21639703" "21639703" "subst" "0" "00006" "DNAH11_000140" "g.21639703G>A" "" "{PMID:Lee 2019:31607746}" "" "" "" "Germline" "" "" "0" "" "" "g.21600085G>A" "{CV:000622141.2}" "likely pathogenic (recessive)" "" "0000652243" "1" "50" "7" "21584742" "21584742" "subst" "0.000207321" "03575" "DNAH11_000142" "g.21584742G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs185011953}" "Germline" "" "rs185011953" "0" "" "" "g.21545124G>A" "" "VUS" "" "0000652244" "1" "50" "7" "21598564" "21598564" "subst" "0.00545169" "03575" "DNAH11_000143" "g.21598564A>G" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs117064287}" "Germline" "" "rs117064287" "0" "" "" "g.21558946A>G" "" "VUS" "" "0000652245" "1" "50" "7" "21598585" "21598585" "subst" "0.00140016" "03575" "CDCA7L_000010" "g.21598585A>T" "19/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 19 heterozygous; {DB:CLININrs147525173}" "Germline" "" "rs147525173" "0" "" "" "g.21558967A>T" "" "VUS" "" "0000652246" "1" "10" "7" "21600777" "21600777" "subst" "0.000328362" "03575" "DNAH11_000144" "g.21600777C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs79874320}" "Germline" "" "rs79874320" "0" "" "" "g.21561159C>T" "" "benign" "" "0000652247" "1" "30" "7" "21609691" "21609691" "subst" "0.0396046" "03575" "DNAH11_000015" "g.21609691C>T" "235/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "235 heterozygous; {DB:CLININrs72655982}" "Germline" "" "rs72655982" "0" "" "" "g.21570073C>T" "" "likely benign" "" "0000652248" "1" "10" "7" "21609889" "21609889" "subst" "0.000850497" "03575" "DNAH11_000145" "g.21609889A>C" "10/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs147912535}" "Germline" "" "rs147912535" "0" "" "" "g.21570271A>C" "" "benign" "" "0000652249" "1" "30" "7" "21621631" "21621631" "subst" "0.0396204" "03575" "CDCA7L_000018" "g.21621631G>A" "230/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "230 heterozygous; {DB:CLININrs72655988}" "Germline" "" "rs72655988" "0" "" "" "g.21582013G>A" "" "likely benign" "" "0000652250" "1" "50" "7" "21639561" "21639561" "subst" "0.000509235" "03575" "DNAH11_000146" "g.21639561C>A" "17/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 17 heterozygous, no homozygous; {DB:CLININrs189569144}" "Germline" "" "rs189569144" "0" "" "" "g.21599943C>A" "" "VUS" "" "0000652251" "1" "50" "7" "21641054" "21641054" "subst" "0.000500509" "03575" "DNAH11_000147" "g.21641054G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs183521702}" "Germline" "" "rs183521702" "0" "" "" "g.21601436G>A" "" "VUS" "" "0000652252" "1" "50" "7" "21641058" "21641058" "subst" "0.000122047" "03575" "DNAH11_000148" "g.21641058T>G" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs117830543}" "Germline" "" "rs117830543" "0" "" "" "g.21601440T>G" "" "VUS" "" "0000652253" "1" "50" "7" "21641129" "21641129" "subst" "0.000219725" "03575" "DNAH11_000149" "g.21641129A>G" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs148916596}" "Germline" "" "rs148916596" "0" "" "" "g.21601511A>G" "" "VUS" "" "0000652254" "1" "30" "7" "21678643" "21678643" "subst" "0.0443502" "03575" "DNAH11_000047" "g.21678643A>G" "219/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "219 heterozygous; {DB:CLININrs17144835}" "Germline" "" "rs17144835" "0" "" "" "g.21639025A>G" "" "likely benign" "" "0000652255" "1" "10" "7" "21737718" "21737718" "subst" "0.00334505" "03575" "DNAH11_000056" "g.21737718A>G" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs72657339}" "Germline" "" "rs72657339" "0" "" "" "g.21698100A>G" "" "benign" "" "0000652256" "1" "50" "7" "21765454" "21765454" "subst" "0.000115203" "03575" "DNAH11_000150" "g.21765454G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs185039462}" "Germline" "" "rs185039462" "0" "" "" "g.21725836G>T" "" "VUS" "" "0000652257" "1" "50" "7" "21765456" "21765456" "subst" "0.000378853" "03575" "DNAH11_000151" "g.21765456C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs188615176}" "Germline" "" "rs188615176" "0" "" "" "g.21725838C>T" "" "VUS" "" "0000652258" "1" "30" "7" "21778429" "21778429" "subst" "0.0373948" "03575" "DNAH11_000074" "g.21778429T>C" "153/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "153 heterozygous; {DB:CLININrs2003417}" "Germline" "" "rs2003417" "0" "" "" "g.21738811T>C" "" "likely benign" "" "0000652259" "1" "50" "7" "21781653" "21781653" "subst" "0.00171071" "03575" "CDCA7L_000047" "g.21781653A>G" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs72657364}" "Germline" "" "rs72657364" "0" "" "" "g.21742035A>G" "" "VUS" "" "0000652260" "1" "10" "7" "21781781" "21781781" "subst" "0.000370572" "03575" "DNAH11_000152" "g.21781781C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs111301826}" "Germline" "" "rs111301826" "0" "" "" "g.21742163C>T" "" "benign" "" "0000652261" "1" "50" "7" "21784649" "21784649" "subst" "0.00369281" "03575" "DNAH11_000082" "g.21784649C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs62445328}" "Germline" "" "rs62445328" "0" "" "" "g.21745031C>T" "" "VUS" "" "0000652262" "1" "50" "7" "21805202" "21805202" "subst" "0.00683704" "03575" "DNAH11_000153" "g.21805202A>G" "28/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 28 heterozygous; {DB:CLININrs72657373}" "Germline" "" "rs72657373" "0" "" "" "g.21765584A>G" "" "VUS" "" "0000652263" "1" "10" "7" "21818641" "21818641" "subst" "0.000248661" "03575" "DNAH11_000154" "g.21818641C>G" "7/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs148800414}" "Germline" "" "rs148800414" "0" "" "" "g.21779023C>G" "" "benign" "" "0000652264" "1" "50" "7" "21828869" "21828869" "subst" "0.00351934" "03575" "DNAH11_000155" "g.21828869A>T" "11/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; {DB:CLININrs72657389}" "Germline" "" "rs72657389" "0" "" "" "g.21789251A>T" "" "VUS" "" "0000652265" "1" "50" "7" "21856163" "21856163" "subst" "0.000756473" "03575" "DNAH11_000156" "g.21856163G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs117729990}" "Germline" "" "rs117729990" "0" "" "" "g.21816545G>A" "" "VUS" "" "0000652266" "1" "30" "7" "21882210" "21882210" "subst" "0.000101577" "03575" "DNAH11_000157" "g.21882210C>G" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs114916492}" "Germline" "" "rs114916492" "0" "" "" "g.21842592C>G" "" "likely benign" "" "0000652267" "1" "50" "7" "21901501" "21901501" "subst" "0.00564059" "03575" "CDCA7L_000064" "g.21901501G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs182389910}" "Germline" "" "rs182389910" "0" "" "" "g.21861883G>A" "" "VUS" "" "0000652268" "1" "30" "7" "21901540" "21901540" "subst" "0.0393628" "03575" "DNAH11_000111" "g.21901540T>C" "196/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "196 heterozygous; {DB:CLININrs17145720}" "Germline" "" "rs17145720" "0" "" "" "g.21861922T>C" "" "likely benign" "" "0000652269" "1" "30" "7" "21920412" "21920412" "subst" "0.00709277" "03575" "DNAH11_000119" "g.21920412G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs72658820}" "Germline" "" "rs72658820" "0" "" "" "g.21880794G>A" "" "likely benign" "" "0000652270" "1" "30" "7" "21932031" "21932031" "subst" "0.0215869" "03575" "DNAH11_000158" "g.21932031T>C" "187/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "187 heterozygous; {DB:CLININrs72658822}" "Germline" "" "rs72658822" "0" "" "" "g.21892413T>C" "" "likely benign" "" "0000652271" "1" "10" "7" "21934511" "21934511" "subst" "0.0239714" "03575" "DNAH11_000126" "g.21934511G>A" "76/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "76 heterozygous; {DB:CLININrs72658825}" "Germline" "" "rs72658825" "0" "" "" "g.21894893G>A" "" "benign" "" "0000652272" "1" "30" "7" "21939017" "21939017" "subst" "0.000410529" "03575" "CDCA7L_000075" "g.21939017G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs148707462}" "Germline" "" "rs148707462" "0" "" "" "g.21899399G>A" "" "likely benign" "" "0000655805" "0" "30" "7" "21640530" "21640530" "subst" "0.00299355" "01943" "CDCA7L_000086" "g.21640530T>C" "" "" "" "DNAH11(NM_001277115.1):c.3237T>C (p.L1079=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21600912T>C" "" "likely benign" "" "0000655806" "0" "30" "7" "21695550" "21695550" "subst" "0" "01804" "CDCA7L_000087" "g.21695550A>G" "" "" "" "DNAH11(NM_001277115.1):c.5045A>G (p.(Lys1682Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21655932A>G" "" "likely benign" "" "0000655807" "0" "30" "7" "21781773" "21781773" "subst" "3.66306E-5" "01943" "CDCA7L_000088" "g.21781773A>G" "" "" "" "DNAH11(NM_001277115.1):c.8143A>G (p.N2715D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21742155A>G" "" "likely benign" "" "0000655808" "0" "50" "7" "21856131" "21856131" "subst" "0.000185411" "01943" "CDCA7L_000089" "g.21856131C>A" "" "" "" "DNAH11(NM_001277115.1):c.10379C>A (p.T3460K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21816513C>A" "" "VUS" "" "0000655809" "0" "30" "7" "21940667" "21940667" "subst" "0.000118327" "01943" "CDCA7L_000090" "g.21940667G>A" "" "" "" "DNAH11(NM_001277115.1):c.13346G>A (p.R4449H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21901049G>A" "" "likely benign" "" "0000669956" "3" "50" "7" "21598585" "21598585" "subst" "0.00140016" "03575" "CDCA7L_000010" "g.21598585A>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs147525173}" "Germline" "" "rs147525173" "0" "" "" "g.21558967A>T" "" "VUS" "" "0000669957" "3" "30" "7" "21609691" "21609691" "subst" "0.0396046" "03575" "DNAH11_000015" "g.21609691C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs72655982}" "Germline" "" "rs72655982" "0" "" "" "g.21570073C>T" "" "likely benign" "" "0000669958" "3" "30" "7" "21621631" "21621631" "subst" "0.0396204" "03575" "CDCA7L_000018" "g.21621631G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs72655988}" "Germline" "" "rs72655988" "0" "" "" "g.21582013G>A" "" "likely benign" "" "0000669959" "3" "30" "7" "21678643" "21678643" "subst" "0.0443502" "03575" "DNAH11_000047" "g.21678643A>G" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs17144835}" "Germline" "" "rs17144835" "0" "" "" "g.21639025A>G" "" "likely benign" "" "0000669960" "3" "30" "7" "21778429" "21778429" "subst" "0.0373948" "03575" "DNAH11_000074" "g.21778429T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs2003417}" "Germline" "" "rs2003417" "0" "" "" "g.21738811T>C" "" "likely benign" "" "0000669961" "3" "50" "7" "21805202" "21805202" "subst" "0.00683704" "03575" "DNAH11_000153" "g.21805202A>G" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 homozygous; {DB:CLININrs72657373}" "Germline" "" "rs72657373" "0" "" "" "g.21765584A>G" "" "VUS" "" "0000669962" "3" "30" "7" "21901540" "21901540" "subst" "0.0393628" "03575" "DNAH11_000111" "g.21901540T>C" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 homozygous; {DB:CLININrs17145720}" "Germline" "" "rs17145720" "0" "" "" "g.21861922T>C" "" "likely benign" "" "0000669963" "3" "30" "7" "21932031" "21932031" "subst" "0.0215869" "03575" "DNAH11_000158" "g.21932031T>C" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs72658822}" "Germline" "" "rs72658822" "0" "" "" "g.21892413T>C" "" "likely benign" "" "0000669964" "3" "10" "7" "21934511" "21934511" "subst" "0.0239714" "03575" "DNAH11_000126" "g.21934511G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs72658825}" "Germline" "" "rs72658825" "0" "" "" "g.21894893G>A" "" "benign" "" "0000673959" "2" "90" "7" "21934505" "21934505" "dup" "0" "03695" "DNAH11_000160" "g.21934505dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000673960" "2" "70" "7" "21737794" "21737794" "subst" "0.000187015" "03695" "DNAH11_000159" "g.21737794C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678069" "0" "50" "7" "21744130" "21744130" "subst" "0.000480139" "01943" "CDCA7L_000043" "g.21744130G>A" "" "" "" "DNAH11(NM_001277115.1):c.6352G>A (p.G2118S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678070" "0" "50" "7" "21781552" "21781552" "subst" "1.22021E-5" "02327" "CDCA7L_000091" "g.21781552T>C" "" "" "" "DNAH11(NM_001277115.2):c.7922T>C (p.F2641S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678071" "0" "50" "7" "21781687" "21781687" "subst" "4.06438E-6" "02327" "CDCA7L_000092" "g.21781687C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678072" "0" "50" "7" "21856124" "21856124" "subst" "7.02369E-5" "01943" "CDCA7L_000093" "g.21856124A>G" "" "" "" "DNAH11(NM_001277115.1):c.10372A>G (p.M3458V, p.(Met3458Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678073" "0" "50" "7" "21856224" "21856224" "subst" "0.000651126" "01943" "CDCA7L_000061" "g.21856224G>A" "" "" "" "DNAH11(NM_001277115.1):c.10472G>A (p.R3491H, p.(Arg3491His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678074" "0" "50" "7" "21907467" "21907467" "subst" "0.000150559" "01943" "CDCA7L_000094" "g.21907467T>A" "" "" "" "DNAH11(NM_001277115.1):c.11691-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689970" "0" "50" "7" "21628849" "21628849" "subst" "2.89584E-5" "01943" "CDCA7L_000095" "g.21628849C>G" "" "" "" "DNAH11(NM_001277115.1):c.1997C>G (p.A666G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689971" "0" "30" "7" "21631115" "21631115" "subst" "0" "01943" "CDCA7L_000096" "g.21631115T>C" "" "" "" "DNAH11(NM_001277115.1):c.2587T>C (p.L863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689972" "0" "50" "7" "21641126" "21641126" "subst" "4.06901E-6" "01943" "CDCA7L_000097" "g.21641126A>G" "" "" "" "DNAH11(NM_001277115.1):c.3538A>G (p.R1180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689973" "0" "50" "7" "21677278" "21677278" "subst" "0.000196342" "01943" "DNAH11_000045" "g.21677278G>T" "" "" "" "DNAH11(NM_001277115.1):c.4775G>T (p.C1592F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689974" "0" "30" "7" "21847518" "21847518" "subst" "2.04292E-5" "01943" "CDCA7L_000098" "g.21847518C>G" "" "" "" "DNAH11(NM_001277115.1):c.10183C>G (p.Q3395E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689975" "0" "90" "7" "21939618" "21939618" "subst" "8.12863E-6" "01943" "CDCA7L_000099" "g.21939618C>T" "" "" "" "DNAH11(NM_001277115.1):c.13183C>T (p.R4395*), DNAH11(NM_001277115.2):c.13183C>T (p.(Arg4395*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689976" "0" "90" "7" "21939736" "21939736" "del" "4.08173E-6" "01943" "CDCA7L_000100" "g.21939736del" "" "" "" "DNAH11(NM_001277115.1):c.13301delA (p.E4434Gfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000712827" "1" "50" "7" "21828959" "21828959" "subst" "5.98516E-6" "00000" "DNAH11_000161" "g.21828959T>C" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "" "0" "" "" "g.21789341T>C" "" "VUS" "" "0000712828" "0" "50" "7" "21847518" "21847518" "subst" "2.04292E-5" "00000" "CDCA7L_000098" "g.21847518C>G" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "" "0" "" "" "g.21807900C>G" "" "VUS" "" "0000712829" "0" "50" "7" "21940816" "21940816" "subst" "0.00464758" "00000" "CDCA7L_000005" "g.21940816G>A" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "rs143362381" "0" "" "" "g.21901198G>A" "" "VUS" "" "0000721400" "0" "50" "7" "21641236" "21641236" "subst" "4.77591E-6" "01943" "CDCA7L_000101" "g.21641236G>C" "" "" "" "DNAH11(NM_001277115.1):c.3648G>C (p.E1216D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721401" "0" "90" "7" "21726874" "21726874" "subst" "1.96665E-5" "02329" "CDCA7L_000038" "g.21726874G>A" "" "" "" "DNAH11(NM_001277115.1):c.5778+1G>A, DNAH11(NM_001277115.2):c.5778+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721402" "0" "90" "7" "21730462" "21730462" "subst" "8.16953E-6" "02327" "CDCA7L_000039" "g.21730462C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721403" "0" "50" "7" "21750215" "21750215" "subst" "1.22354E-5" "02329" "CDCA7L_000102" "g.21750215G>A" "" "" "" "DNAH11(NM_001277115.1):c.6728G>A (p.R2243Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721404" "0" "50" "7" "21789863" "21789863" "subst" "0" "01943" "CDCA7L_000103" "g.21789863G>A" "" "" "" "DNAH11(NM_001277115.1):c.8821G>A (p.D2941N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721405" "0" "50" "7" "21805178" "21805178" "subst" "0" "02325" "CDCA7L_000104" "g.21805178A>G" "" "" "" "DNAH11(NM_001277115.2):c.9073A>G (p.R3025G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721406" "0" "30" "7" "21826316" "21826316" "subst" "0" "01943" "CDCA7L_000105" "g.21826316C>T" "" "" "" "DNAH11(NM_001277115.1):c.9672C>T (p.V3224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721407" "0" "70" "7" "21856320" "21856320" "subst" "4.0944E-6" "02329" "CDCA7L_000106" "g.21856320G>A" "" "" "" "DNAH11(NM_001277115.2):c.10568G>A (p.G3523E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721408" "0" "50" "7" "21913099" "21913099" "subst" "0.000545194" "02325" "CDCA7L_000107" "g.21913099G>A" "" "" "" "DNAH11(NM_001277115.2):c.12175G>A (p.A4059T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721409" "0" "50" "7" "21920494" "21920494" "subst" "0.000276208" "02325" "CDCA7L_000108" "g.21920494T>G" "" "" "" "DNAH11(NM_001277115.2):c.12370T>G (p.L4124V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721410" "0" "70" "7" "21938969" "21938971" "del" "0" "02329" "CDCA7L_000109" "g.21938969_21938971del" "" "" "" "DNAH11(NM_001277115.2):c.13065_13067delCCT (p.L4356del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721411" "0" "30" "7" "21939747" "21939747" "subst" "0" "01943" "CDCA7L_000110" "g.21939747C>A" "" "" "" "DNAH11(NM_001277115.1):c.13303+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803090" "0" "70" "7" "21584656" "21584656" "del" "0" "01804" "CDCA7L_000111" "g.21584656del" "" "" "" "DNAH11(NM_001277115.1):c.384del (p.(Phe128Leufs*12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803091" "0" "50" "7" "21599301" "21599301" "subst" "9.92704E-5" "02325" "CDCA7L_000112" "g.21599301T>C" "" "" "" "DNAH11(NM_001277115.2):c.773T>C (p.I258T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803092" "0" "90" "7" "21599321" "21599322" "ins" "4.16694E-6" "01943" "CDCA7L_000113" "g.21599321_21599322insCAGCT" "" "" "" "DNAH11(NM_001277115.1):c.793_794insCAGCT (p.R265Pfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803093" "0" "90" "7" "21628920" "21628920" "dup" "0" "02325" "CDCA7L_000114" "g.21628920dup" "" "" "" "DNAH11(NM_001277115.2):c.2068dupT (p.W690Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803094" "0" "50" "7" "21641054" "21641054" "subst" "0.000500509" "01943" "DNAH11_000147" "g.21641054G>A" "" "" "" "DNAH11(NM_001277115.1):c.3466G>A (p.G1156R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803095" "0" "30" "7" "21646160" "21646160" "subst" "0.000289015" "01943" "CDCA7L_000025" "g.21646160C>T" "" "" "" "DNAH11(NM_001277115.1):c.3765C>T (p.D1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803096" "0" "30" "7" "21781775" "21781775" "subst" "0.000179099" "01943" "CDCA7L_000115" "g.21781775C>T" "" "" "" "DNAH11(NM_001277115.1):c.8145C>T (p.N2715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803097" "0" "50" "7" "21788220" "21788220" "subst" "0.00118272" "01943" "CDCA7L_000050" "g.21788220C>G" "" "" "" "DNAH11(NM_001277115.1):c.8533C>G (p.R2845G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803098" "0" "70" "7" "21827101" "21827101" "subst" "8.14166E-6" "02327" "DNAH11_000097" "g.21827101A>C" "" "" "" "DNAH11(NM_001277115.1):c.9824A>C (p.Y3275S), DNAH11(NM_001277115.2):c.9824A>C (p.Y3275S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803099" "0" "30" "7" "21882252" "21882252" "subst" "0.000999691" "01943" "CDCA7L_000116" "g.21882252G>A" "" "" "" "DNAH11(NM_001277115.1):c.10782G>A (p.P3594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803100" "0" "50" "7" "21893985" "21893985" "subst" "3.65717E-5" "01943" "CDCA7L_000117" "g.21893985A>G" "" "" "" "DNAH11(NM_001277115.1):c.11114A>G (p.Y3705C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803101" "0" "50" "7" "21904237" "21904237" "subst" "0.000136396" "01943" "CDCA7L_000118" "g.21904237G>A" "" "" "" "DNAH11(NM_001277115.1):c.11458G>A (p.V3820I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803102" "0" "70" "7" "21939016" "21939016" "subst" "4.06425E-6" "02325" "CDCA7L_000119" "g.21939016C>T" "" "" "" "DNAH11(NM_001277115.2):c.13112C>T (p.P4371L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803103" "0" "30" "7" "21939074" "21939074" "subst" "2.05091E-5" "01943" "CDCA7L_000120" "g.21939074C>G" "" "" "" "DNAH11(NM_001277115.1):c.13162+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803104" "0" "30" "7" "21940719" "21940719" "subst" "0.000207364" "01943" "CDCA7L_000121" "g.21940719C>T" "" "" "" "DNAH11(NM_001277115.1):c.13398C>T (p.P4466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803105" "0" "50" "7" "21940728" "21940736" "dup" "0" "01943" "CDCA7L_000122" "g.21940728_21940736dup" "" "" "" "DNAH11(NM_001277115.1):c.13407_13415dupACAAGAAAC (p.Q4470_T4472dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814346" "0" "50" "7" "21658769" "21658769" "subst" "0.000728649" "00006" "DNAH11_000162" "g.21658769C>T" "" "{PMID:Takenouchi 2017:28374938}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000851568" "0" "50" "7" "21640529" "21640529" "subst" "1.62917E-5" "01943" "CDCA7L_000123" "g.21640529T>C" "" "" "" "DNAH11(NM_001277115.1):c.3236T>C (p.L1079P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851569" "0" "90" "7" "21675617" "21675617" "subst" "0" "01943" "CDCA7L_000124" "g.21675617G>A" "" "" "" "DNAH11(NM_001277115.1):c.4629G>A (p.W1543*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851570" "0" "90" "7" "21750214" "21750214" "subst" "8.56597E-5" "02329" "DNAH11_000141" "g.21750214C>T" "" "" "" "DNAH11(NM_001277115.2):c.6727C>T (p.R2243*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851571" "0" "50" "7" "21760460" "21760460" "subst" "0" "01943" "CDCA7L_000125" "g.21760460C>G" "" "" "" "DNAH11(NM_001277115.1):c.7252C>G (p.L2418V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851572" "0" "50" "7" "21857908" "21857908" "subst" "8.172E-6" "02325" "CDCA7L_000127" "g.21857908G>A" "" "" "" "DNAH11(NM_001277115.2):c.10642G>A (p.D3548N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851573" "0" "50" "7" "21920468" "21920468" "subst" "0.000611511" "02325" "CDCA7L_000128" "g.21920468T>G" "" "" "" "DNAH11(NM_001277115.2):c.12344T>G (p.I4115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860719" "0" "90" "7" "21726874" "21726874" "subst" "1.96665E-5" "01943" "CDCA7L_000038" "g.21726874G>A" "" "" "" "DNAH11(NM_001277115.1):c.5778+1G>A, DNAH11(NM_001277115.2):c.5778+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860720" "0" "50" "7" "21775270" "21775270" "subst" "0" "01943" "CDCA7L_000126" "g.21775270C>T" "" "" "" "DNAH11(NM_001277115.1):c.7453C>T (p.H2485Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860721" "0" "50" "7" "21939024" "21939024" "subst" "0" "01943" "CDCA7L_000129" "g.21939024G>A" "" "" "" "DNAH11(NM_001277115.1):c.13120G>A (p.V4374M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000878541" "0" "70" "7" "21939743" "21939743" "subst" "8.24824E-6" "03779" "DNAH11_000163" "g.21939743G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1453680788" "0" "" "" "" "" "likely pathogenic" "" "0000881324" "21" "70" "7" "21805095" "21805095" "subst" "0.0111613" "02300" "CDCA7L_000052" "g.21805095G>A" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001277115.2:c.8990G>A (Arg2997Gln)" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.21765477G>A" "" "likely pathogenic (recessive)" "ACMG" "0000881375" "11" "70" "7" "21840783" "21840783" "subst" "7.86821E-5" "02300" "DNAH11_000164" "g.21840783C>T" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001277115.2:c.10055C>T (Thr3352Met)" "ACMG PM2, PP2, PP3, PM3" "Germline" "" "" "0" "" "" "g.21801165C>T" "" "likely pathogenic (recessive)" "ACMG" "0000887816" "0" "90" "7" "21609812" "21609812" "dup" "0" "02329" "CDCA7L_000130" "g.21609812dup" "" "" "" "DNAH11(NM_001277115.2):c.1320dupA (p.L441Ifs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887817" "0" "70" "7" "21639449" "21639449" "subst" "4.16743E-6" "02329" "CDCA7L_000131" "g.21639449G>A" "" "" "" "DNAH11(NM_001277115.2):c.2712G>A (p.W904*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887818" "0" "90" "7" "21658796" "21658796" "subst" "2.85244E-5" "02327" "CDCA7L_000132" "g.21658796C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887819" "0" "10" "7" "21658855" "21658855" "subst" "0.472246" "02327" "DNAH11_000038" "g.21658855A>G" "" "" "" "DNAH11(NM_001277115.2):c.4377+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887820" "0" "90" "7" "21751473" "21751473" "subst" "0" "02327" "CDCA7L_000133" "g.21751473G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887821" "0" "50" "7" "21781552" "21781552" "subst" "1.22021E-5" "02325" "CDCA7L_000091" "g.21781552T>C" "" "" "" "DNAH11(NM_001277115.2):c.7922T>C (p.F2641S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887822" "0" "70" "7" "21781552" "21781552" "subst" "1.22021E-5" "02329" "CDCA7L_000091" "g.21781552T>C" "" "" "" "DNAH11(NM_001277115.2):c.7922T>C (p.F2641S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887823" "0" "90" "7" "21826350" "21826350" "subst" "1.22034E-5" "02327" "CDCA7L_000134" "g.21826350C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887824" "0" "70" "7" "21906085" "21906085" "subst" "0" "02327" "CDCA7L_000135" "g.21906085C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912725" "0" "90" "7" "21583026" "21583026" "subst" "0" "02327" "CDCA7L_000136" "g.21583026C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912726" "0" "50" "7" "21784216" "21784216" "subst" "0" "02327" "CDCA7L_000137" "g.21784216A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929326" "0" "50" "7" "21824060" "21824060" "subst" "0.000106152" "02325" "CDCA7L_000084" "g.21824060A>C" "" "" "" "DNAH11(NM_001277115.1):c.9499A>C (p.(Thr3167Pro)), DNAH11(NM_001277115.2):c.9499A>C (p.T3167P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933165" "21" "70" "7" "21757421" "21757421" "subst" "2.84641E-5" "00006" "DNAH11_000165" "g.21757421C>T" "" "{PMID:Masunaga 2022:36224347}" "" "" "" "Germline" "" "" "0" "" "" "g.21717803C>T" "" "VUS" "" "0000933166" "11" "70" "7" "21723432" "21723432" "subst" "0" "00006" "DNAH11_000166" "g.21723432T>A" "" "{PMID:Masunaga 2022:36224347}" "" "" "" "Germline" "" "" "0" "" "" "g.21683814T>A" "" "VUS" "" "0000964548" "0" "50" "7" "21778402" "21778402" "subst" "4.4772E-6" "02327" "CDCA7L_000138" "g.21778402G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964550" "0" "50" "7" "21847520" "21847520" "subst" "4.0823E-6" "02327" "CDCA7L_000139" "g.21847520A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977654" "0" "10" "7" "21609691" "21609691" "subst" "0.0396046" "01804" "DNAH11_000015" "g.21609691C>T" "" "" "" "DNAH11(NM_001277115.1):c.1199C>T (p.T400I), DNAH11(NM_001277115.2):c.1199C>T (p.(Thr400Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977655" "0" "10" "7" "21621631" "21621631" "subst" "0.0396204" "01804" "CDCA7L_000018" "g.21621631G>A" "" "" "" "DNAH11(NM_001277115.1):c.1702G>A (p.A568T), DNAH11(NM_001277115.2):c.1702G>A (p.(Ala568Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977656" "0" "10" "7" "21639572" "21639572" "subst" "0.0470726" "01804" "DNAH11_000137" "g.21639572A>G" "" "" "" "DNAH11(NM_001277115.1):c.2835A>G (p.Q945=), DNAH11(NM_001277115.2):c.2835A>G (p.(Gln945=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977657" "0" "10" "7" "21678643" "21678643" "subst" "0.0443502" "01804" "DNAH11_000047" "g.21678643A>G" "" "" "" "DNAH11(NM_001277115.1):c.4904A>G (p.D1635G), DNAH11(NM_001277115.2):c.4904A>G (p.(Asp1635Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977658" "0" "50" "7" "21827060" "21827060" "subst" "0.000703476" "01804" "CDCA7L_000060" "g.21827060G>C" "" "" "" "DNAH11(NM_001277115.1):c.9783G>C (p.E3261D), DNAH11(NM_001277115.2):c.9783G>C (p.(Glu3261Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977659" "0" "50" "7" "21882337" "21882337" "subst" "0.000110994" "01804" "CDCA7L_000140" "g.21882337A>G" "" "" "" "DNAH11(NM_001277115.2):c.10867A>G (p.(Ile3623Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977660" "0" "50" "7" "21906089" "21906089" "subst" "1.24044E-5" "01804" "CDCA7L_000141" "g.21906089C>T" "" "" "" "DNAH11(NM_001277115.2):c.11498C>T (p.(Ala3833Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984915" "1" "90" "7" "21629004" "21629005" "del" "0" "00006" "DNAH11_000167" "g.21629004_21629005del" "" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "" "2152_2153delGT" "" "Germline" "" "" "0" "" "" "g.21589386_21589387del" "" "likely pathogenic (recessive)" "" "0000984920" "0" "50" "7" "21906125" "21906125" "subst" "4.07455E-6" "00006" "DNAH11_000168" "g.21906125G>T" "" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "" "" "" "Germline" "" "" "0" "" "" "g.21866507G>T" "" "VUS" "" "0000996402" "0" "90" "7" "21598427" "21598427" "del" "0" "02325" "CDCA7L_000142" "g.21598427del" "" "" "" "DNAH11(NM_001277115.2):c.503delT (p.V168Gfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996403" "0" "30" "7" "21598564" "21598564" "subst" "0.00545169" "01804" "DNAH11_000143" "g.21598564A>G" "" "" "" "DNAH11(NM_001277115.1):c.640A>G (p.(Ile214Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996404" "0" "50" "7" "21640333" "21640333" "subst" "6.51784E-5" "01804" "CDCA7L_000143" "g.21640333C>G" "" "" "" "DNAH11(NM_001277115.1):c.3040C>G (p.(Gln1014Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996405" "0" "30" "7" "21640338" "21640338" "subst" "0.00302981" "01804" "DNAH11_000138" "g.21640338G>T" "" "" "" "DNAH11(NM_001277115.1):c.3045G>T (p.(Glu1015Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996406" "0" "30" "7" "21640635" "21640635" "subst" "3.71281E-5" "01804" "CDCA7L_000144" "g.21640635T>C" "" "" "" "DNAH11(NM_001277115.1):c.3263T>C (p.(Ile1088Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996407" "0" "50" "7" "21640728" "21640728" "subst" "0.000169303" "02329" "CDCA7L_000021" "g.21640728G>A" "" "" "" "DNAH11(NM_001277115.1):c.3356G>A (p.S1119N), DNAH11(NM_001277115.2):c.3356G>A (p.S1119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996408" "0" "30" "7" "21640784" "21640784" "subst" "0.000113187" "01804" "CDCA7L_000145" "g.21640784T>C" "" "" "" "DNAH11(NM_001277115.1):c.3412T>C (p.(Phe1138Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996409" "0" "30" "7" "21654825" "21654825" "subst" "0.0029024" "01804" "DNAH11_000034" "g.21654825A>G" "" "" "" "DNAH11(NM_001277115.1):c.3946A>G (p.M1316V, p.(Met1316Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996410" "0" "30" "7" "21678689" "21678689" "del" "0.00160015" "01804" "CDCA7L_000146" "g.21678689del" "" "" "" "DNAH11(NM_001277115.1):c.4944+6delA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996411" "0" "50" "7" "21737740" "21737740" "subst" "8.13564E-6" "01804" "DNAH11_000057" "g.21737740T>C" "" "" "" "DNAH11(NM_001277115.1):c.6089T>C (p.L2030S, p.(Leu2030Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996412" "0" "50" "7" "21757461" "21757461" "subst" "6.90782E-5" "01804" "CDCA7L_000045" "g.21757461A>G" "" "" "" "DNAH11(NM_001277115.1):c.7052A>G (p.D2351G, p.(Asp2351Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996413" "0" "70" "7" "21765428" "21765428" "subst" "0" "02329" "CDCA7L_000147" "g.21765428G>T" "" "" "" "DNAH11(NM_001277115.2):c.7267-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996414" "0" "70" "7" "21765469" "21765472" "del" "0" "02329" "CDCA7L_000148" "g.21765469_21765472del" "" "" "" "DNAH11(NM_001277115.2):c.7307_7310delAAGA (p.K2436Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996415" "0" "30" "7" "21778438" "21778438" "subst" "0.000547037" "01804" "CDCA7L_000149" "g.21778438G>A" "" "" "" "DNAH11(NM_001277115.1):c.7765G>A (p.(Val2589Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996416" "0" "30" "7" "21779241" "21779241" "subst" "4.89337E-5" "01804" "CDCA7L_000150" "g.21779241G>A" "" "" "" "DNAH11(NM_001277115.1):c.7864G>A (p.(Ala2622Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996417" "0" "50" "7" "21781702" "21781702" "subst" "0.000223579" "01804" "DNAH11_000079" "g.21781702A>G" "" "" "" "DNAH11(NM_001277115.1):c.8072A>G (p.Q2691R, p.(Gln2691Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996418" "0" "30" "7" "21789864" "21789864" "subst" "4.70455E-5" "01804" "CDCA7L_000151" "g.21789864A>G" "" "" "" "DNAH11(NM_001277115.1):c.8822A>G (p.(Asp2941Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996419" "0" "30" "7" "21805202" "21805202" "subst" "0.00683704" "01804" "DNAH11_000153" "g.21805202A>G" "" "" "" "DNAH11(NM_001277115.1):c.9097A>G (p.(Ile3033Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996420" "0" "70" "7" "21813550" "21813550" "dup" "0" "02329" "CDCA7L_000152" "g.21813550dup" "" "" "" "DNAH11(NM_001277115.2):c.9269dupA (p.N3090Kfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996421" "0" "50" "7" "21847581" "21847581" "subst" "0" "01804" "CDCA7L_000153" "g.21847581G>A" "" "" "" "DNAH11(NM_001277115.1):c.10246G>A (p.(Ala3416Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996422" "0" "30" "7" "21856124" "21856124" "subst" "7.02369E-5" "01804" "CDCA7L_000093" "g.21856124A>G" "" "" "" "DNAH11(NM_001277115.1):c.10372A>G (p.M3458V, p.(Met3458Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996423" "0" "50" "7" "21857888" "21857888" "subst" "0" "01804" "CDCA7L_000154" "g.21857888A>G" "" "" "" "DNAH11(NM_001277115.1):c.10622A>G (p.(Glu3541Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996424" "0" "30" "7" "21882209" "21882209" "subst" "0.00873778" "01804" "DNAH11_000104" "g.21882209G>A" "" "" "" "DNAH11(NM_001277115.1):c.10739G>A (p.R3580H, p.(Arg3580His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996425" "0" "30" "7" "21892176" "21892176" "subst" "0" "01804" "CDCA7L_000155" "g.21892176G>C" "" "" "" "DNAH11(NM_001277115.1):c.10988G>C (p.(Ser3663Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996426" "0" "50" "7" "21940829" "21940829" "subst" "0" "02325" "CDCA7L_000156" "g.21940829C>T" "" "" "" "DNAH11(NM_001277115.2):c.13508C>T (p.A4503V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996427" "0" "30" "7" "21940868" "21940868" "subst" "0.00686925" "01804" "CDCA7L_000007" "g.21940868C>T" "" "" "" "DNAH11(NM_001277115.1):c.13547C>T (p.A4516V, p.(Ala4516Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014336" "0" "50" "7" "21584770" "21584770" "subst" "0" "02329" "CDCA7L_000157" "g.21584770A>T" "" "" "" "DNAH11(NM_001277115.2):c.495+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014337" "0" "30" "7" "21639520" "21639520" "subst" "0.000933673" "02325" "CDCA7L_000158" "g.21639520A>T" "" "" "" "DNAH11(NM_001277115.2):c.2783A>T (p.D928V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014338" "0" "90" "7" "21639586" "21639586" "del" "0" "02325" "CDCA7L_000159" "g.21639586del" "" "" "" "DNAH11(NM_001277115.2):c.2849delT (p.L950Cfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014339" "0" "50" "7" "21640467" "21640467" "subst" "0" "02327" "CDCA7L_000160" "g.21640467T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014340" "0" "30" "7" "21775402" "21775402" "subst" "0" "02325" "CDCA7L_000161" "g.21775402G>C" "" "" "" "DNAH11(NM_001277115.2):c.7585G>C (p.E2529Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014341" "0" "50" "7" "21779290" "21779290" "subst" "4.083E-6" "02329" "CDCA7L_000162" "g.21779290A>G" "" "" "" "DNAH11(NM_001277115.2):c.7913A>G (p.Q2638R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025373" "0" "90" "7" "21583028" "21583028" "del" "0" "02325" "CDCA7L_000163" "g.21583028del" "" "" "" "DNAH11(NM_001277115.2):c.165delA (p.D56Tfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025374" "0" "50" "7" "21630542" "21630542" "subst" "0" "02325" "CDCA7L_000164" "g.21630542G>T" "" "" "" "DNAH11(NM_001277115.2):c.2176G>T (p.A726S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025375" "0" "50" "7" "21641234" "21641234" "subst" "0.000244865" "02325" "DNAH11_000030" "g.21641234G>A" "" "" "" "DNAH11(NM_001277115.2):c.3646G>A (p.E1216K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025376" "0" "50" "7" "21678568" "21678568" "subst" "4.13206E-6" "02325" "CDCA7L_000165" "g.21678568G>T" "" "" "" "DNAH11(NM_001277115.2):c.4829G>T (p.C1610F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025377" "0" "50" "7" "21726851" "21726851" "subst" "0" "02327" "CDCA7L_000166" "g.21726851G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025378" "0" "50" "7" "21789835" "21789835" "subst" "0.00388442" "01943" "DNAH11_000087" "g.21789835G>A" "" "" "" "DNAH11(NM_001277115.1):c.8798-5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025379" "0" "50" "7" "21789851" "21789851" "subst" "0.00018626" "02327" "DNAH11_000088" "g.21789851G>A" "" "" "" "DNAH11(NM_001277115.1):c.8809G>A (p.D2937N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025380" "0" "50" "7" "21934397" "21934397" "subst" "0" "02325" "CDCA7L_000167" "g.21934397C>G" "" "" "" "DNAH11(NM_001277115.2):c.12907C>G (p.L4303V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027589" "1" "30" "7" "21631098" "21631098" "subst" "4.49626E-5" "00006" "DNAH11_000169" "g.21631098G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.21591480G>A" "" "likely benign" "" "0001027590" "1" "50" "7" "21939024" "21939024" "subst" "0" "00006" "CDCA7L_000129" "g.21939024G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.21899406G>A" "" "VUS" "" "0001027591" "1" "50" "7" "21784131" "21784131" "subst" "8.5395E-5" "00006" "DNAH11_000171" "g.21784131C>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.21744513C>T" "" "VUS" "" "0001027601" "0" "50" "7" "21813586" "21813586" "subst" "0" "00006" "DNAH11_000172" "g.21813586G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.21773968G>A" "" "VUS" "" "0001027602" "0" "50" "7" "21695438" "21695438" "subst" "0.00048114" "00006" "DNAH11_000170" "g.21695438T>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.21655820T>C" "" "VUS" "" "0001027603" "2" "90" "7" "21907626" "21907626" "subst" "0" "00006" "DNAH11_000173" "g.21907626G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.21868008G>A" "" "pathogenic (recessive)" "" "0001027608" "0" "30" "7" "21934578" "21934578" "subst" "2.84349E-5" "00006" "DNAH11_000174" "g.21934578G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.21894960G>A" "" "likely benign" "" "0001027609" "0" "50" "7" "21698453" "21698453" "subst" "0.000520277" "00006" "DNAH11_000048" "g.21698453A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs189432084" "0" "" "" "g.21658835A>G" "" "VUS" "" "0001027657" "0" "50" "7" "21609733" "21609733" "subst" "0" "00006" "DNAH11_000175" "g.21609733A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.21570115A>G" "" "VUS" "" "0001027658" "0" "30" "7" "21639624" "21639624" "subst" "1.23026E-5" "00006" "DNAH11_000176" "g.21639624A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs185803317" "0" "" "" "g.21600006A>G" "" "likely benign" "" "0001027659" "0" "10" "7" "21657343" "21657343" "subst" "0.002345" "00006" "DNAH11_000035" "g.21657343A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs199629774" "0" "" "" "g.21617725A>G" "" "benign" "" "0001027660" "0" "50" "7" "21677278" "21677278" "subst" "0.000196342" "00006" "DNAH11_000045" "g.21677278G>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs72657327" "0" "" "" "g.21637660G>T" "" "VUS" "" "0001027661" "0" "30" "7" "21698453" "21698453" "subst" "0.000520277" "00006" "DNAH11_000048" "g.21698453A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs189432084" "0" "" "" "g.21658835A>G" "" "likely benign" "" "0001027662" "0" "50" "7" "21778402" "21778402" "subst" "8.9544E-5" "00006" "DNAH11_000177" "g.21778402G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs770532527" "0" "" "" "g.21738784G>A" "" "VUS" "" "0001027663" "0" "30" "7" "21781653" "21781653" "subst" "0.00171071" "00006" "CDCA7L_000047" "g.21781653A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs72657364" "0" "" "" "g.21742035A>G" "" "likely benign" "" "0001027664" "0" "30" "7" "21781702" "21781702" "subst" "0.000223579" "00006" "DNAH11_000079" "g.21781702A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs183682756" "0" "" "" "g.21742084A>G" "" "likely benign" "" "0001027665" "0" "30" "7" "21788220" "21788220" "subst" "0.00118272" "00006" "CDCA7L_000050" "g.21788220C>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs121908854" "0" "" "" "g.21748602C>G" "" "likely benign" "" "0001027666" "0" "50" "7" "21813519" "21813519" "subst" "0" "00006" "DNAH11_000178" "g.21813519C>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.21773901C>A" "" "VUS" "" "0001027667" "0" "50" "7" "21818619" "21818619" "subst" "0" "00006" "DNAH11_000179" "g.21818619T>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs755885697" "0" "" "" "g.21779001T>G" "" "VUS" "" "0001027668" "0" "30" "7" "21856131" "21856131" "subst" "0.000185411" "00006" "CDCA7L_000089" "g.21856131C>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs573384750" "0" "" "" "g.21816513C>A" "" "likely benign" "" "0001027669" "0" "50" "7" "21901535" "21901535" "subst" "6.93555E-5" "00006" "CDCA7L_000065" "g.21901535G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs554657293" "0" "" "" "g.21861917G>A" "" "VUS" "" "0001027670" "0" "30" "7" "21920468" "21920468" "subst" "0.000611511" "00006" "CDCA7L_000128" "g.21920468T>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs371418299" "0" "" "" "g.21880850T>G" "" "likely benign" "" "0001036308" "0" "30" "7" "21598585" "21598585" "subst" "0.00140016" "01804" "CDCA7L_000010" "g.21598585A>T" "" "" "" "DNAH11(NM_001277115.1):c.661A>T (p.M221L), DNAH11(NM_001277115.2):c.661A>T (p.(Met221Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036309" "0" "30" "7" "21600745" "21600745" "subst" "0.00462546" "01804" "CDCA7L_000012" "g.21600745C>T" "" "" "" "DNAH11(NM_001277115.1):c.939C>T (p.S313=), DNAH11(NM_001277115.2):c.939C>T (p.(Ser313=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036310" "0" "50" "7" "21609724" "21609724" "subst" "7.04453E-5" "01804" "CDCA7L_000168" "g.21609724G>A" "" "" "" "DNAH11(NM_001277115.2):c.1232G>A (p.(Gly411Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036311" "0" "10" "7" "21611415" "21611415" "subst" "0.00628155" "01804" "DNAH11_000016" "g.21611415T>C" "" "" "" "DNAH11(NM_001277115.1):c.1426-9T>C, DNAH11(NM_001277115.2):c.1426-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036312" "0" "30" "7" "21639487" "21639487" "subst" "0.000253485" "01804" "CDCA7L_000169" "g.21639487A>T" "" "" "" "DNAH11(NM_001277115.2):c.2750A>T (p.(Glu917Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036313" "0" "30" "7" "21695492" "21695492" "subst" "8.15694E-6" "01804" "CDCA7L_000170" "g.21695492C>T" "" "" "" "DNAH11(NM_001277115.2):c.4987C>T (p.(Leu1663=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036314" "0" "10" "7" "21737768" "21737768" "subst" "0.0175015" "01804" "CDCA7L_000171" "g.21737768G>A" "" "" "" "DNAH11(NM_001277115.2):c.6117G>A (p.(Ala2039=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036315" "0" "50" "7" "21742337" "21742337" "subst" "2.0349E-5" "01804" "CDCA7L_000172" "g.21742337G>A" "" "" "" "DNAH11(NM_001277115.2):c.6190G>A (p.(Asp2064Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036316" "0" "70" "7" "21746354" "21746354" "subst" "0" "02329" "CDCA7L_000173" "g.21746354G>A" "" "" "" "DNAH11(NM_001277115.2):c.6547-963G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036317" "0" "30" "7" "21747312" "21747312" "subst" "0.00299251" "01804" "CDCA7L_000174" "g.21747312C>G" "" "" "" "DNAH11(NM_001277115.2):c.6547-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036318" "0" "50" "7" "21778402" "21778402" "subst" "8.9544E-5" "01804" "DNAH11_000177" "g.21778402G>A" "" "" "" "DNAH11(NM_001277115.2):c.7729G>A (p.(Asp2577Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036319" "0" "10" "7" "21818674" "21818674" "subst" "0.00391" "01804" "DNAH11_000094" "g.21818674G>A" "" "" "" "DNAH11(NM_001277115.1):c.9435G>A (p.T3145=), DNAH11(NM_001277115.2):c.9435G>A (p.(Thr3145=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036320" "0" "50" "7" "21827067" "21827067" "subst" "6.52364E-5" "01804" "CDCA7L_000175" "g.21827067C>T" "" "" "" "DNAH11(NM_001277115.2):c.9790C>T (p.(Pro3264Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036321" "0" "30" "7" "21828869" "21828869" "subst" "0.00351934" "01804" "DNAH11_000155" "g.21828869A>T" "" "" "" "DNAH11(NM_001277115.2):c.9935A>T (p.(Asp3312Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036322" "0" "70" "7" "21939618" "21939618" "subst" "8.12863E-6" "01804" "CDCA7L_000099" "g.21939618C>T" "" "" "" "DNAH11(NM_001277115.1):c.13183C>T (p.R4395*), DNAH11(NM_001277115.2):c.13183C>T (p.(Arg4395*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052614" "0" "50" "7" "21603968" "21603968" "subst" "4.88711E-5" "01804" "CDCA7L_000176" "g.21603968C>T" "" "" "" "DNAH11(NM_001277115.2):c.1147C>T (p.(Arg383Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052615" "0" "30" "7" "21611571" "21611571" "subst" "5.56876E-5" "01804" "CDCA7L_000177" "g.21611571C>T" "" "" "" "DNAH11(NM_001277115.2):c.1573C>T (p.(Pro525Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052616" "0" "50" "7" "21621521" "21621521" "subst" "0" "01804" "CDCA7L_000178" "g.21621521A>G" "" "" "" "DNAH11(NM_001277115.2):c.1594-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052617" "0" "50" "7" "21630592" "21630592" "subst" "0" "01804" "CDCA7L_000179" "g.21630592A>G" "" "" "" "DNAH11(NM_001277115.2):c.2226A>G (p.(Ile742Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052618" "0" "50" "7" "21639612" "21639612" "subst" "0" "01804" "CDCA7L_000180" "g.21639612C>T" "" "" "" "DNAH11(NM_001277115.2):c.2875C>T (p.(Pro959Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052619" "0" "50" "7" "21641082" "21641082" "subst" "0.000174858" "01804" "CDCA7L_000022" "g.21641082A>G" "" "" "" "DNAH11(NM_001277115.1):c.3494A>G (p.D1165G), DNAH11(NM_001277115.2):c.3494A>G (p.(Asp1165Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052620" "0" "50" "7" "21751337" "21751337" "subst" "4.07538E-6" "01804" "CDCA7L_000181" "g.21751337C>A" "" "" "" "DNAH11(NM_001277115.2):c.6842C>A (p.(Thr2281Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052621" "0" "50" "7" "21781749" "21781749" "subst" "0" "01804" "CDCA7L_000182" "g.21781749A>G" "" "" "" "DNAH11(NM_001277115.2):c.8119A>G (p.(Ile2707Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052622" "0" "30" "7" "21784649" "21784649" "subst" "0.00369281" "01804" "DNAH11_000082" "g.21784649C>T" "" "" "" "DNAH11(NM_001277115.1):c.8478C>T (p.H2826=), DNAH11(NM_001277115.2):c.8478C>T (p.(His2826=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052623" "0" "50" "7" "21789373" "21789373" "dup" "0" "01804" "CDCA7L_000183" "g.21789373dup" "" "" "" "DNAH11(NM_001277115.2):c.8751dup (p.(Leu2918Serfs*3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052624" "0" "50" "7" "21789930" "21789930" "subst" "0.000309904" "01804" "CDCA7L_000184" "g.21789930C>A" "" "" "" "DNAH11(NM_001277115.2):c.8888C>A (p.(Ser2963Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052625" "0" "30" "7" "21805078" "21805078" "subst" "0.000455525" "01804" "CDCA7L_000185" "g.21805078G>A" "" "" "" "DNAH11(NM_001277115.2):c.8973G>A (p.(Thr2991=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052626" "0" "10" "7" "21805095" "21805095" "subst" "0.0111613" "01804" "CDCA7L_000052" "g.21805095G>A" "" "" "" "DNAH11(NM_001277115.1):c.8990G>A (p.R2997Q), DNAH11(NM_001277115.2):c.8990G>A (p.(Arg2997Gln), p.R2997Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052627" "0" "50" "7" "21840851" "21840851" "subst" "0" "01804" "CDCA7L_000186" "g.21840851A>G" "" "" "" "DNAH11(NM_001277115.2):c.10123A>G (p.(Thr3375Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052628" "0" "50" "7" "21856223" "21856223" "subst" "4.06928E-6" "01804" "CDCA7L_000187" "g.21856223C>T" "" "" "" "DNAH11(NM_001277115.2):c.10471C>T (p.(Arg3491Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052629" "0" "50" "7" "21882155" "21882155" "subst" "0.000245228" "01804" "DNAH11_000103" "g.21882155C>T" "" "" "" "DNAH11(NM_001277115.1):c.10692-7C>T, DNAH11(NM_001277115.2):c.10692-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052630" "0" "30" "7" "21882195" "21882195" "subst" "2.84504E-5" "01804" "CDCA7L_000188" "g.21882195T>C" "" "" "" "DNAH11(NM_001277115.2):c.10725T>C (p.(Phe3575=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052631" "0" "70" "7" "21939007" "21939008" "del" "0" "01804" "DNAH11_000129" "g.21939007_21939008del" "" "" "" "DNAH11(NM_001277115.1):c.13103_13104delTT (p.L4368Hfs*30), DNAH11(NM_001277115.2):c.13103_13104del (p.(Leu4368Hisfs*30)), DNAH11(NM_001277115.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052632" "0" "30" "7" "21939698" "21939698" "subst" "0.0111055" "01804" "DNAH11_000134" "g.21939698G>C" "" "" "" "DNAH11(NM_001277115.1):c.13263G>C (p.P4421=), DNAH11(NM_001277115.2):c.13263G>C (p.(Pro4421=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057994" "1" "70" "7" "21789930" "21789930" "subst" "0.000309904" "00006" "CDCA7L_000184" "g.21789930C>A" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.21750312C>A" "" "likely pathogenic (!)" "" "0001057998" "1" "70" "7" "21765456" "21765456" "subst" "0.000378853" "00006" "DNAH11_000151" "g.21765456C>T" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.21725838C>T" "" "likely pathogenic (!)" "" "0001058005" "1" "70" "7" "21788358" "21788358" "subst" "0.00013131" "00006" "DNAH11_000180" "g.21788358C>T" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.21748740C>T" "" "likely pathogenic (!)" "" "0001058604" "0" "90" "7" "21857959" "21857959" "subst" "1.67186E-5" "00006" "DNAH11_000181" "g.21857959T>C" "" "{PMID:Retterer 2016:26633542}" "" "NM_003777.3:c.10712+2T>C" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.21818341T>C" "" "pathogenic" "" "0001058605" "0" "70" "7" "21940844" "21940864" "dup" "0" "00006" "DNAH11_000182" "g.21940844_21940864dup" "" "{PMID:Retterer 2016:26633542}" "" "NM_003777.3:c.13544_13564dup21" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.21901226_21901246dup" "" "likely pathogenic" "" "0001060785" "0" "70" "7" "21631059" "21631059" "subst" "0" "00006" "DNAH11_000183" "g.21631059G>A" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.21591441G>A" "" "likely pathogenic" "ACMG" ## 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 DNAH11 ## Count = 461 "{{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}}" "0000247957" "00025496" "10" "2454" "0" "2454" "0" "c.2454A>G" "r.(?)" "p.(Ala818=)" "" "0000247996" "00025496" "10" "12493" "0" "12493" "0" "c.12493A>G" "r.(?)" "p.(Met4165Val)" "" "0000247999" "00025496" "10" "7901" "0" "7901" "0" "c.7901A>G" "r.(?)" "p.(Asn2634Ser)" "" "0000248007" "00025496" "10" "3112" "0" "3112" "0" "c.3112A>G" "r.(?)" "p.(Thr1038Ala)" "" "0000249112" "00025496" "10" "4377" "15" "4377" "15" "c.4377+15A>G" "r.(=)" "p.(=)" "" "0000249113" "00025496" "10" "11691" "-19" "11691" "-19" "c.11691-19delinsTG" "r.(=)" "p.(=)" "" "0000249440" "00025496" "30" "8023" "0" "8023" "0" "c.8023A>T" "r.(?)" "p.(Ile2675Phe)" "" "0000249828" "00025496" "50" "4790" "0" "4790" "0" "c.4790A>C" "r.(?)" "p.(Tyr1597Ser)" "" "0000250502" "00025496" "70" "9824" "0" "9824" "0" "c.9824A>C" "r.(?)" "p.(Tyr3275Ser)" "" "0000253218" "00025496" "10" "2454" "0" "2454" "0" "c.2454A>G" "r.(?)" "p.(Ala818=)" "" "0000253257" "00025496" "10" "12493" "0" "12493" "0" "c.12493A>G" "r.(?)" "p.(Met4165Val)" "" "0000253260" "00025496" "10" "7901" "0" "7901" "0" "c.7901A>G" "r.(?)" "p.(Asn2634Ser)" "" "0000253268" "00025496" "10" "3112" "0" "3112" "0" "c.3112A>G" "r.(?)" "p.(Thr1038Ala)" "" "0000253450" "00025496" "10" "1065" "0" "1065" "0" "c.1065A>G" "r.(?)" "p.(Pro355=)" "" "0000253451" "00025496" "10" "2835" "0" "2835" "0" "c.2835A>G" "r.(?)" "p.(Gln945=)" "" "0000253519" "00025496" "10" "4904" "0" "4904" "0" "c.4904A>G" "r.(?)" "p.(Asp1635Gly)" "" "0000253595" "00025496" "10" "13502" "0" "13502" "0" "c.13502A>G" "r.(?)" "p.(Lys4501Arg)" "" "0000253673" "00025496" "10" "1916" "0" "1916" "0" "c.1916A>G" "r.(?)" "p.(Gln639Arg)" "" "0000253813" "00025496" "10" "5621" "11" "5621" "11" "c.5621+11A>T" "r.(=)" "p.(=)" "" "0000253814" "00025496" "10" "6469" "-17" "6469" "-17" "c.6469-17A>G" "r.(=)" "p.(=)" "" "0000253815" "00025496" "10" "8797" "12" "8797" "12" "c.8797+12A>G" "r.(=)" "p.(=)" "" "0000254337" "00025496" "30" "11399" "0" "11399" "0" "c.11399A>G" "r.(?)" "p.(Asp3800Gly)" "" "0000254714" "00025496" "30" "3946" "0" "3946" "0" "c.3946A>G" "r.(?)" "p.(Met1316Val)" "" "0000255244" "00025496" "30" "4501" "-7" "4501" "-7" "c.4501-7A>T" "r.(=)" "p.(=)" "" "0000255245" "00025496" "30" "6273" "9" "6273" "9" "c.6273+9A>G" "r.(=)" "p.(=)" "" "0000255876" "00025496" "50" "6677" "0" "6677" "0" "c.6677A>G" "r.(?)" "p.(Asp2226Gly)" "" "0000255981" "00025496" "50" "9110" "0" "9110" "0" "c.9110A>G" "r.(?)" "p.(His3037Arg)" "" "0000256016" "00025496" "50" "576" "0" "576" "0" "c.576A>G" "r.(?)" "p.(Ile192Met)" "" "0000256170" "00025496" "50" "11200" "0" "11200" "0" "c.11200A>C" "r.(?)" "p.(Lys3734Gln)" "" "0000256422" "00025496" "50" "4202" "0" "4202" "0" "c.4202A>G" "r.(?)" "p.(Gln1401Arg)" "" "0000256434" "00025496" "50" "8072" "0" "8072" "0" "c.8072A>G" "r.(?)" "p.(Gln2691Arg)" "" "0000267442" "00025496" "10" "100" "0" "100" "0" "c.100G>T" "r.(?)" "p.(Glu34Ter)" "" "0000267443" "00025496" "10" "10399" "0" "10399" "0" "c.10399G>A" "r.(?)" "p.(Ala3467Thr)" "" "0000267444" "00025496" "10" "11122" "0" "11122" "0" "c.11122G>T" "r.(?)" "p.(Val3708Leu)" "" "0000267445" "00025496" "10" "11298" "0" "11298" "0" "c.11298T>C" "r.(?)" "p.(His3766=)" "" "0000267446" "00025496" "10" "13128" "0" "13128" "0" "c.13128C>A" "r.(?)" "p.(Leu4376=)" "" "0000267447" "00025496" "10" "1956" "0" "1956" "0" "c.1956C>T" "r.(?)" "p.(Phe652=)" "" "0000267449" "00025496" "10" "4449" "0" "4449" "0" "c.4449T>C" "r.(?)" "p.(Ile1483=)" "" "0000267450" "00025496" "10" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Asn235=)" "" "0000267451" "00025496" "10" "7290" "0" "7290" "0" "c.7290C>T" "r.(?)" "p.(Phe2430=)" "" "0000267452" "00025496" "10" "7626" "0" "7626" "0" "c.7626G>A" "r.(?)" "p.(Thr2542=)" "" "0000267453" "00025496" "10" "7776" "0" "7776" "0" "c.7776C>T" "r.(?)" "p.(His2592=)" "" "0000268697" "00025496" "50" "10174" "0" "10174" "0" "c.10174C>T" "r.(?)" "p.(Arg3392Cys)" "" "0000268698" "00025496" "50" "12889" "0" "12889" "0" "c.12889C>T" "r.(?)" "p.(Arg4297Trp)" "" "0000275173" "00025496" "10" "100" "0" "101" "0" "c.100_101delinsTT" "r.(?)" "p.(Glu34Leu)" "" "0000275174" "00025496" "10" "100" "0" "100" "0" "c.100G>T" "r.(?)" "p.(Glu34Ter)" "" "0000275175" "00025496" "30" "10125" "0" "10125" "0" "c.10125C>G" "r.(?)" "p.(Thr3375=)" "" "0000275176" "00025496" "10" "10399" "0" "10399" "0" "c.10399G>A" "r.(?)" "p.(Ala3467Thr)" "" "0000275177" "00025496" "30" "10692" "-7" "10692" "-7" "c.10692-7C>T" "r.(=)" "p.(=)" "" "0000275178" "00025496" "30" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358Cys)" "" "0000275179" "00025496" "50" "10739" "0" "10739" "0" "c.10739G>A" "r.(?)" "p.(Arg3580His)" "" "0000275180" "00025496" "50" "11107" "0" "11107" "0" "c.11107G>C" "r.(?)" "p.(Glu3703Gln)" "" "0000275181" "00025496" "10" "11122" "0" "11122" "0" "c.11122G>T" "r.(?)" "p.(Val3708Leu)" "" "0000275182" "00025496" "10" "11202" "13" "11202" "13" "c.11202+13G>A" "r.(=)" "p.(=)" "" "0000275183" "00025496" "10" "11202" "7" "11202" "7" "c.11202+7C>A" "r.(=)" "p.(=)" "" "0000275184" "00025496" "10" "11272" "0" "11272" "0" "c.11272T>C" "r.(?)" "p.(Ser3758Pro)" "" "0000275185" "00025496" "50" "11277" "0" "11277" "0" "c.11277C>G" "r.(?)" "p.(Ile3759Met)" "" "0000275186" "00025496" "10" "11298" "0" "11298" "0" "c.11298T>C" "r.(?)" "p.(His3766=)" "" "0000275187" "00025496" "10" "11325" "0" "11325" "0" "c.11325G>A" "r.(?)" "p.(Ala3775=)" "" "0000275188" "00025496" "30" "11580" "0" "11580" "0" "c.11580C>T" "r.(?)" "p.(Ser3860=)" "" "0000275189" "00025496" "30" "1194" "57" "1194" "57" "c.1194+57C>T" "r.(=)" "p.(=)" "" "0000275190" "00025496" "10" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Thr400Ile)" "" "0000275191" "00025496" "30" "12174" "0" "12174" "0" "c.12174C>T" "r.(?)" "p.(Ala4058=)" "" "0000275192" "00025496" "10" "12288" "0" "12288" "0" "c.12288G>A" "r.(?)" "p.(Arg4096=)" "" "0000275193" "00025496" "30" "12328" "0" "12328" "0" "c.12328C>A" "r.(?)" "p.(Pro4110Thr)" "" "0000275194" "00025496" "50" "12406" "0" "12406" "0" "c.12406C>T" "r.(?)" "p.(Arg4136Cys)" "" "0000275195" "00025496" "50" "12632" "0" "12632" "0" "c.12632C>T" "r.(?)" "p.(Pro4211Leu)" "" "0000275196" "00025496" "30" "12899" "0" "12899" "0" "c.12899G>A" "r.(?)" "p.(Arg4300His)" "" "0000275197" "00025496" "50" "12943" "0" "12943" "0" "c.12943G>A" "r.(?)" "p.(Ala4315Thr)" "" "0000275198" "00025496" "30" "13050" "-10" "13050" "-10" "c.13050-10C>G" "r.(=)" "p.(=)" "" "0000275199" "00025496" "30" "13050" "-12" "13050" "-12" "c.13050-12C>T" "r.(=)" "p.(=)" "" "0000275200" "00025496" "90" "13103" "0" "13104" "0" "c.13103_13104del" "r.(?)" "p.(Leu4368HisfsTer30)" "" "0000275201" "00025496" "30" "13113" "0" "13113" "0" "c.13113G>C" "r.(?)" "p.(Pro4371=)" "" "0000275202" "00025496" "10" "13128" "0" "13128" "0" "c.13128C>A" "r.(?)" "p.(Leu4376=)" "" "0000275203" "00025496" "50" "13192" "0" "13192" "0" "c.13192G>C" "r.(?)" "p.(Glu4398Gln)" "" "0000275204" "00025496" "30" "13263" "0" "13263" "0" "c.13263G>C" "r.(?)" "p.(Pro4421=)" "" "0000275205" "00025496" "50" "13321" "0" "13321" "0" "c.13321C>G" "r.(?)" "p.(Gln4441Glu)" "" "0000275206" "00025496" "50" "13373" "0" "13373" "0" "c.13373C>T" "r.(?)" "p.(Pro4458Leu)" "" "0000275207" "00025496" "50" "13495" "0" "13495" "0" "c.13495G>A" "r.(?)" "p.(Glu4499Lys)" "" "0000275208" "00025496" "10" "13547" "0" "13547" "0" "c.13547C>T" "r.(?)" "p.(Ala4516Val)" "" "0000275209" "00025496" "10" "1426" "-9" "1426" "-9" "c.1426-9T>C" "r.(=)" "p.(=)" "" "0000275210" "00025496" "10" "1956" "0" "1956" "0" "c.1956C>T" "r.(?)" "p.(Phe652=)" "" "0000275211" "00025496" "10" "1961" "0" "1961" "0" "c.1961C>G" "r.(?)" "p.(Ser654Cys)" "" "0000275212" "00025496" "10" "2275" "-15" "2275" "-15" "c.2275-15G>T" "r.(=)" "p.(=)" "" "0000275213" "00025496" "30" "2379" "0" "2379" "0" "c.2379C>T" "r.(?)" "p.(Asp793=)" "" "0000275214" "00025496" "50" "2542" "0" "2542" "0" "c.2542G>A" "r.(?)" "p.(Val848Met)" "" "0000275215" "00025496" "30" "2772" "0" "2772" "0" "c.2772G>A" "r.(?)" "p.(Met924Ile)" "" "0000275216" "00025496" "10" "3068" "0" "3068" "0" "c.3068T>C" "r.(?)" "p.(Val1023Ala)" "" "0000275217" "00025496" "10" "3256" "-10" "3256" "-10" "c.3256-10C>G" "r.(=)" "p.(=)" "" "0000275218" "00025496" "10" "421" "0" "421" "0" "c.421G>T" "r.(?)" "p.(Asp141Tyr)" "" "0000275219" "00025496" "30" "4353" "0" "4353" "0" "c.4353G>A" "r.(?)" "p.(Ala1451=)" "" "0000275221" "00025496" "10" "4449" "0" "4449" "0" "c.4449T>C" "r.(?)" "p.(Ile1483=)" "" "0000275222" "00025496" "30" "4726" "-15" "4726" "-15" "c.4726-15T>C" "r.(=)" "p.(=)" "" "0000275223" "00025496" "10" "5490" "0" "5490" "0" "c.5490G>A" "r.(?)" "p.(Leu1830=)" "" "0000275224" "00025496" "10" "54" "0" "54" "0" "c.54C>T" "r.(?)" "p.(Thr18=)" "" "0000275225" "00025496" "50" "5722" "0" "5722" "0" "c.5722C>G" "r.(?)" "p.(Arg1908Gly)" "" "0000275226" "00025496" "50" "6089" "0" "6089" "0" "c.6089T>C" "r.(?)" "p.(Leu2030Ser)" "" "0000275227" "00025496" "10" "6274" "-13" "6274" "-13" "c.6274-13T>G" "r.(=)" "p.(=)" "" "0000275228" "00025496" "10" "6274" "-5" "6274" "-5" "c.6274-5T>C" "r.spl?" "p.?" "" "0000275229" "00025496" "10" "6416" "0" "6416" "0" "c.6416G>A" "r.(?)" "p.(Arg2139Lys)" "" "0000275230" "00025496" "10" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Asn235=)" "" "0000275231" "00025496" "10" "7290" "0" "7290" "0" "c.7290C>T" "r.(?)" "p.(Phe2430=)" "" "0000275232" "00025496" "50" "7318" "0" "7318" "0" "c.7318G>A" "r.(?)" "p.(Ala2440Thr)" "" "0000275233" "00025496" "10" "7335" "0" "7335" "0" "c.7335G>A" "r.(?)" "p.(Ser2445=)" "" "0000275234" "00025496" "50" "7472" "0" "7472" "0" "c.7472G>A" "r.(?)" "p.(Arg2491His)" "" "0000275235" "00025496" "10" "7552" "0" "7552" "0" "c.7552G>A" "r.(?)" "p.(Val2518Ile)" "" "0000275236" "00025496" "10" "7570" "0" "7570" "0" "c.7570T>C" "r.(?)" "p.(Leu2524=)" "" "0000275237" "00025496" "10" "7626" "0" "7626" "0" "c.7626G>A" "r.(?)" "p.(Thr2542=)" "" "0000275238" "00025496" "30" "7626" "0" "7626" "0" "c.7626G>T" "r.(?)" "p.(Thr2542=)" "" "0000275239" "00025496" "10" "7756" "0" "7756" "0" "c.7756T>C" "r.(?)" "p.(Tyr2586His)" "" "0000275240" "00025496" "50" "7765" "0" "7765" "0" "c.7765G>C" "r.(?)" "p.(Val2589Leu)" "" "0000275241" "00025496" "10" "7776" "0" "7776" "0" "c.7776C>T" "r.(?)" "p.(His2592=)" "" "0000275242" "00025496" "10" "8155" "-19" "8155" "-19" "c.8155-19C>T" "r.(=)" "p.(=)" "" "0000275243" "00025496" "30" "8317" "-16" "8317" "-16" "c.8317-16C>G" "r.(=)" "p.(=)" "" "0000275244" "00025496" "30" "8478" "0" "8478" "0" "c.8478C>T" "r.(?)" "p.(His2826=)" "" "0000275245" "00025496" "10" "8797" "20" "8797" "20" "c.8797+20T>G" "r.(=)" "p.(=)" "" "0000275246" "00025496" "50" "8809" "0" "8809" "0" "c.8809G>A" "r.(?)" "p.(Asp2937Asn)" "" "0000275247" "00025496" "30" "9102" "20" "9102" "33" "c.9102+20_9102+33delinsAT" "r.(=)" "p.(=)" "" "0000275248" "00025496" "10" "9102" "20" "9102" "20" "c.9102+20G>A" "r.(=)" "p.(=)" "" "0000275249" "00025496" "10" "9337" "-9" "9337" "-9" "c.9337-9T>C" "r.(=)" "p.(=)" "" "0000275250" "00025496" "30" "9435" "0" "9435" "0" "c.9435G>A" "r.(?)" "p.(Thr3145=)" "" "0000275251" "00025496" "30" "9468" "0" "9468" "0" "c.9468T>C" "r.(?)" "p.(Asp3156=)" "" "0000275252" "00025496" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Glu331Lys)" "" "0000275253" "00025496" "30" "9925" "-7" "9925" "-7" "c.9925-7T>C" "r.(=)" "p.(=)" "" "0000331450" "00025496" "50" "188" "0" "188" "0" "c.188G>C" "r.(?)" "p.(Gly63Ala)" "" "0000331451" "00025496" "50" "423" "0" "423" "0" "c.423C>A" "r.(?)" "p.(Asp141Glu)" "" "0000331452" "00025496" "50" "434" "0" "434" "0" "c.434T>A" "r.(?)" "p.(Val145Glu)" "" "0000331453" "00025496" "50" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383Gln)" "" "0000331455" "00025496" "50" "2542" "0" "2542" "0" "c.2542G>A" "r.(?)" "p.(Val848Met)" "" "0000331456" "00025496" "50" "2772" "0" "2772" "0" "c.2772G>A" "r.(?)" "p.(Met924Ile)" "" "0000331457" "00025496" "30" "2803" "0" "2803" "0" "c.2803G>A" "r.(?)" "p.(Glu935Lys)" "" "0000331461" "00025496" "50" "3870" "0" "3870" "0" "c.3870G>C" "r.(?)" "p.(Glu1290Asp)" "" "0000331462" "00025496" "30" "4501" "-7" "4501" "-7" "c.4501-7A>T" "r.(=)" "p.(=)" "" "0000331465" "00025496" "30" "5132" "0" "5132" "0" "c.5132A>G" "r.(?)" "p.(Gln1711Arg)" "" "0000331466" "00025496" "30" "5143" "0" "5143" "0" "c.5143C>T" "r.(?)" "p.(Arg1715Cys)" "" "0000331468" "00025496" "50" "5905" "0" "5905" "0" "c.5905A>C" "r.(?)" "p.(Ile1969Leu)" "" "0000331469" "00025496" "50" "6019" "0" "6019" "0" "c.6019G>A" "r.(?)" "p.(Glu2007Lys)" "" "0000331471" "00025496" "50" "6416" "0" "6416" "0" "c.6416G>A" "r.(?)" "p.(Arg2139Lys)" "" "0000331472" "00025496" "50" "6830" "0" "6830" "0" "c.6830A>G" "r.(?)" "p.(Asn2277Ser)" "" "0000331475" "00025496" "50" "8714" "0" "8714" "0" "c.8714A>G" "r.(?)" "p.(Asn2905Ser)" "" "0000331476" "00025496" "30" "8798" "-5" "8798" "-5" "c.8798-5G>A" "r.spl?" "p.?" "" "0000331477" "00025496" "10" "9102" "8" "9102" "8" "c.9102+8G>A" "r.(=)" "p.(=)" "" "0000331478" "00025496" "50" "9773" "0" "9773" "0" "c.9773A>G" "r.(?)" "p.(Tyr3258Cys)" "" "0000331479" "00025496" "50" "10615" "0" "10615" "0" "c.10615T>G" "r.(?)" "p.(Leu3539Val)" "" "0000331480" "00025496" "50" "10877" "0" "10877" "0" "c.10877C>A" "r.(?)" "p.(Pro3626Gln)" "" "0000331481" "00025496" "30" "11277" "0" "11277" "0" "c.11277C>G" "r.(?)" "p.(Ile3759Met)" "" "0000331482" "00025496" "30" "13213" "0" "13213" "0" "c.13213C>T" "r.(?)" "p.(Arg4405Cys)" "" "0000331484" "00025496" "30" "13495" "0" "13495" "0" "c.13495G>A" "r.(?)" "p.(Glu4499Lys)" "" "0000342222" "00025496" "90" "6244" "0" "6244" "0" "c.6244C>T" "r.(?)" "p.(Arg2082Ter)" "" "0000348831" "00025496" "50" "6506" "0" "6506" "0" "c.6506C>T" "r.(?)" "p.(Ser2169Leu)" "" "0000470947" "00025496" "70" "3045" "0" "3045" "0" "c.3045G>T" "r.(?)" "p.(Glu1015Asp)" "" "0000470948" "00025496" "70" "5824" "0" "5824" "0" "c.5824G>C" "r.(?)" "p.(Gly1942Arg)" "" "0000531604" "00025496" "10" "101" "0" "101" "0" "c.101A>T" "r.(?)" "p.(Glu34Val)" "" "0000531605" "00025496" "10" "576" "0" "576" "0" "c.576A>G" "r.(?)" "p.(Ile192Met)" "" "0000531606" "00025496" "30" "661" "0" "661" "0" "c.661A>T" "r.(?)" "p.(Met221Leu)" "" "0000531607" "00025496" "30" "695" "0" "695" "0" "c.695C>T" "r.(?)" "p.(Pro232Leu)" "" "0000531608" "00025496" "30" "695" "0" "695" "0" "c.695C>T" "r.(?)" "p.(Pro232Leu)" "" "0000531609" "00025496" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "0000531612" "00025496" "30" "1426" "-4" "1426" "-4" "c.1426-4A>G" "r.spl?" "p.?" "" "0000531613" "00025496" "50" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Gly493Asp)" "" "0000531614" "00025496" "50" "1586" "0" "1586" "0" "c.1586C>G" "r.(?)" "p.(Thr529Ser)" "" "0000531615" "00025496" "30" "1586" "0" "1586" "0" "c.1586C>G" "r.(?)" "p.(Thr529Ser)" "" "0000531616" "00025496" "10" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Ala568Thr)" "" "0000531617" "00025496" "70" "1846" "0" "1846" "0" "c.1846C>T" "r.(?)" "p.(Gln616Ter)" "" "0000531619" "00025496" "50" "3356" "0" "3356" "0" "c.3356G>A" "r.(?)" "p.(Ser1119Asn)" "" "0000531620" "00025496" "30" "3494" "0" "3494" "0" "c.3494A>G" "r.(?)" "p.(Asp1165Gly)" "" "0000531621" "00025496" "10" "3630" "0" "3630" "0" "c.3630G>A" "r.(?)" "p.(Gln1210=)" "" "0000531622" "00025496" "10" "3630" "0" "3630" "0" "c.3630G>A" "r.(?)" "p.(Gln1210=)" "" "0000531625" "00025496" "30" "3766" "-10" "3766" "-10" "c.3766-10C>A" "r.(=)" "p.(=)" "" "0000531626" "00025496" "50" "4001" "0" "4001" "0" "c.4001T>C" "r.(?)" "p.(Ile1334Thr)" "" "0000531627" "00025496" "30" "4001" "0" "4001" "0" "c.4001T>C" "r.(?)" "p.(Ile1334Thr)" "" "0000531628" "00025496" "30" "4202" "0" "4202" "0" "c.4202A>G" "r.(?)" "p.(Gln1401Arg)" "" "0000531629" "00025496" "50" "4282" "0" "4282" "0" "c.4282A>G" "r.(?)" "p.(Thr1428Ala)" "" "0000531630" "00025496" "30" "4282" "0" "4282" "0" "c.4282A>G" "r.(?)" "p.(Thr1428Ala)" "" "0000531631" "00025496" "30" "4377" "7" "4377" "7" "c.4377+7T>G" "r.(=)" "p.(=)" "" "0000531632" "00025496" "10" "4378" "-17" "4378" "-16" "c.4378-17_4378-16insATTTA" "r.(=)" "p.(=)" "" "0000531633" "00025496" "10" "4378" "-17" "4378" "-16" "c.4378-17_4378-16insATTTA" "r.(=)" "p.(=)" "" "0000531634" "00025496" "30" "4491" "0" "4491" "0" "c.4491G>A" "r.(?)" "p.(Glu1497=)" "" "0000531637" "00025496" "30" "4734" "0" "4734" "0" "c.4734G>C" "r.(?)" "p.(Met1578Ile)" "" "0000531638" "00025496" "50" "4865" "0" "4865" "0" "c.4865G>A" "r.(?)" "p.(Arg1622His)" "" "0000531639" "00025496" "50" "5242" "0" "5242" "0" "c.5242A>G" "r.(?)" "p.(Ile1748Val)" "" "0000531640" "00025496" "90" "5506" "0" "5506" "0" "c.5506C>T" "r.(?)" "p.(Arg1836Ter)" "" "0000531641" "00025496" "90" "5778" "1" "5778" "1" "c.5778+1G>A" "r.spl?" "p.?" "" "0000531643" "00025496" "50" "6182" "0" "6182" "0" "c.6182A>G" "r.(?)" "p.(Asp2061Gly)" "" "0000531648" "00025496" "30" "6500" "0" "6500" "0" "c.6500G>A" "r.(?)" "p.(Arg2167Gln)" "" "0000531649" "00025496" "50" "7052" "0" "7052" "0" "c.7052A>G" "r.(?)" "p.(Asp2351Gly)" "" "0000531651" "00025496" "10" "7552" "0" "7552" "0" "c.7552G>A" "r.(?)" "p.(Val2518Ile)" "" "0000531652" "00025496" "10" "7756" "0" "7756" "0" "c.7756T>C" "r.(?)" "p.(Tyr2586His)" "" "0000531653" "00025496" "50" "8023" "0" "8023" "0" "c.8023A>G" "r.(?)" "p.(Ile2675Val)" "" "0000531654" "00025496" "30" "8023" "0" "8023" "0" "c.8023A>G" "r.(?)" "p.(Ile2675Val)" "" "0000531656" "00025496" "30" "8379" "0" "8379" "0" "c.8379G>A" "r.(?)" "p.(Gly2793=)" "" "0000531658" "00025496" "90" "8698" "0" "8698" "0" "c.8698C>T" "r.(?)" "p.(Arg2900Ter)" "" "0000531659" "00025496" "50" "8990" "0" "8990" "0" "c.8990G>A" "r.(?)" "p.(Arg2997Gln)" "" "0000531660" "00025496" "10" "8990" "0" "8990" "0" "c.8990G>A" "r.(?)" "p.(Arg2997Gln)" "" "0000531661" "00025496" "30" "9098" "0" "9098" "0" "c.9098T>C" "r.(?)" "p.(Ile3033Thr)" "" "0000531662" "00025496" "30" "9110" "0" "9110" "0" "c.9110A>G" "r.(?)" "p.(His3037Arg)" "" "0000531663" "00025496" "90" "9251" "0" "9251" "0" "c.9251del" "r.(?)" "p.(Leu3084ArgfsTer2)" "" "0000531664" "00025496" "50" "9325" "0" "9325" "0" "c.9325A>T" "r.(?)" "p.(Thr3109Ser)" "" "0000531665" "00025496" "30" "9336" "5" "9336" "5" "c.9336+5G>C" "r.spl?" "p.?" "" "0000531667" "00025496" "10" "9561" "0" "9561" "0" "c.9561G>A" "r.(?)" "p.(Leu3187=)" "" "0000531668" "00025496" "50" "9707" "0" "9707" "0" "c.9707G>A" "r.(?)" "p.(Arg3236Gln)" "" "0000531669" "00025496" "50" "9783" "0" "9783" "0" "c.9783G>C" "r.(?)" "p.(Glu3261Asp)" "" "0000531670" "00025496" "50" "9824" "0" "9824" "0" "c.9824A>C" "r.(?)" "p.(Tyr3275Ser)" "" "0000531672" "00025496" "50" "10472" "0" "10472" "0" "c.10472G>A" "r.(?)" "p.(Arg3491His)" "" "0000531673" "00025496" "30" "10637" "0" "10637" "0" "c.10637C>T" "r.(?)" "p.(Thr3546Met)" "" "0000531678" "00025496" "30" "11202" "7" "11202" "7" "c.11202+7C>A" "r.(=)" "p.(=)" "" "0000531679" "00025496" "30" "11233" "0" "11233" "0" "c.11233G>A" "r.(?)" "p.(Glu3745Lys)" "" "0000531681" "00025496" "30" "11272" "0" "11272" "0" "c.11272T>C" "r.(?)" "p.(Ser3758Pro)" "" "0000531682" "00025496" "10" "11691" "-19" "11691" "-19" "c.11691-19A>G" "r.(=)" "p.(=)" "" "0000531683" "00025496" "70" "11968" "-1" "11968" "-1" "c.11968-1G>C" "r.spl?" "p.?" "" "0000531684" "00025496" "50" "12165" "0" "12165" "0" "c.12165T>A" "r.(?)" "p.(Asn4055Lys)" "" "0000531685" "00025496" "50" "12336" "0" "12336" "0" "c.12336C>G" "r.(?)" "p.(Asp4112Glu)" "" "0000531686" "00025496" "10" "12509" "0" "12509" "0" "c.12509C>T" "r.(?)" "p.(Thr4170Ile)" "" "0000531687" "00025496" "10" "12509" "0" "12509" "0" "c.12509C>T" "r.(?)" "p.(Thr4170Ile)" "" "0000531688" "00025496" "30" "12521" "0" "12521" "0" "c.12521T>G" "r.(?)" "p.(Leu4174Arg)" "" "0000531690" "00025496" "50" "12632" "0" "12632" "0" "c.12632C>T" "r.(?)" "p.(Pro4211Leu)" "" "0000531692" "00025496" "10" "12943" "0" "12943" "0" "c.12943G>A" "r.(?)" "p.(Ala4315Thr)" "" "0000531693" "00025496" "90" "13069" "0" "13069" "0" "c.13069C>T" "r.(?)" "p.(Arg4357Ter)" "" "0000531694" "00025496" "90" "13103" "0" "13104" "0" "c.13103_13104del" "r.(?)" "p.(Leu4368HisfsTer30)" "" "0000531695" "00025496" "30" "13113" "0" "13113" "0" "c.13113G>A" "r.(?)" "p.(Pro4371=)" "" "0000531696" "00025496" "90" "13304" "-1" "13304" "-1" "c.13304-1G>A" "r.spl?" "p.?" "" "0000531697" "00025496" "30" "13305" "0" "13305" "0" "c.13305C>T" "r.(?)" "p.(Gly4435=)" "" "0000531698" "00025496" "30" "13305" "0" "13305" "0" "c.13305C>T" "r.(?)" "p.(Gly4435=)" "" "0000531700" "00025496" "70" "13373" "0" "13373" "0" "c.13373C>T" "r.(?)" "p.(Pro4458Leu)" "" "0000611017" "00025496" "50" "9044" "0" "9044" "0" "c.9044C>A" "r.(?)" "p.(Pro3015Gln)" "" "0000611018" "00025496" "30" "9499" "0" "9499" "0" "c.9499A>C" "r.(?)" "p.(Thr3167Pro)" "" "0000621871" "00025496" "50" "1593" "0" "1593" "0" "c.1593G>T" "r.(?)" "p.(Met531Ile)" "" "0000621872" "00025496" "50" "6010" "0" "6010" "0" "c.6010G>A" "r.(?)" "p.(Glu2004Lys)" "" "0000621873" "00025496" "50" "10228" "0" "10228" "0" "c.10228G>T" "r.(?)" "p.(Asp3410Tyr)" "" "0000645289" "00025496" "90" "6727" "0" "6727" "0" "c.6727C>T" "r.(?)" "p.(Arg2243*)" "" "0000645327" "00025496" "70" "2966" "0" "2966" "0" "c.2966G>A" "r.(?)" "p.(Arg989Gln)" "" "0000652243" "00025496" "50" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Gly157Glu)" "" "0000652244" "00025496" "50" "640" "0" "640" "0" "c.640A>G" "r.(?)" "p.(Ile214Val)" "" "0000652245" "00025496" "50" "661" "0" "661" "0" "c.661A>T" "r.(?)" "p.(Met221Leu)" "" "0000652246" "00025496" "10" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Ala324Val)" "" "0000652247" "00025496" "30" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Thr400Ile)" "" "0000652248" "00025496" "10" "1397" "0" "1397" "0" "c.1397A>C" "r.(?)" "p.(Lys466Thr)" "" "0000652249" "00025496" "30" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Ala568Thr)" "" "0000652250" "00025496" "50" "2824" "0" "2824" "0" "c.2824C>A" "r.(?)" "p.(Pro942Thr)" "" "0000652251" "00025496" "50" "3466" "0" "3466" "0" "c.3466G>A" "r.(?)" "p.(Gly1156Arg)" "" "0000652252" "00025496" "50" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157Arg)" "" "0000652253" "00025496" "50" "3541" "0" "3541" "0" "c.3541A>G" "r.(?)" "p.(Ser1181Gly)" "" "0000652254" "00025496" "30" "4904" "0" "4904" "0" "c.4904A>G" "r.(?)" "p.(Asp1635Gly)" "" "0000652255" "00025496" "10" "6067" "0" "6067" "0" "c.6067A>G" "r.(?)" "p.(Ile2023Val)" "" "0000652256" "00025496" "50" "7292" "0" "7292" "0" "c.7292G>T" "r.(?)" "p.(Ser2431Ile)" "" "0000652257" "00025496" "50" "7294" "0" "7294" "0" "c.7294C>T" "r.(?)" "p.(Arg2432Trp)" "" "0000652258" "00025496" "30" "7756" "0" "7756" "0" "c.7756T>C" "r.(?)" "p.(Tyr2586His)" "" "0000652259" "00025496" "50" "8023" "0" "8023" "0" "c.8023A>G" "r.(?)" "p.(Ile2675Val)" "" "0000652260" "00025496" "10" "8151" "0" "8151" "0" "c.8151C>T" "r.(=)" "p.(=)" "" "0000652261" "00025496" "50" "8478" "0" "8478" "0" "c.8478C>T" "r.(=)" "p.(=)" "" "0000652262" "00025496" "50" "9097" "0" "9097" "0" "c.9097A>G" "r.(?)" "p.(Ile3033Val)" "" "0000652263" "00025496" "10" "9402" "0" "9402" "0" "c.9402C>G" "r.(=)" "p.(=)" "" "0000652264" "00025496" "50" "9935" "0" "9935" "0" "c.9935A>T" "r.(?)" "p.(Asp3312Val)" "" "0000652265" "00025496" "50" "10411" "0" "10411" "0" "c.10411G>A" "r.(?)" "p.(Glu3471Lys)" "" "0000652266" "00025496" "30" "10740" "0" "10740" "0" "c.10740C>G" "r.(=)" "p.(=)" "" "0000652267" "00025496" "50" "11233" "0" "11233" "0" "c.11233G>A" "r.(?)" "p.(Glu3745Lys)" "" "0000652268" "00025496" "30" "11272" "0" "11272" "0" "c.11272T>C" "r.(?)" "p.(Ser3758Pro)" "" "0000652269" "00025496" "30" "12288" "0" "12288" "0" "c.12288G>A" "r.(=)" "p.(=)" "" "0000652270" "00025496" "30" "12508" "-12" "12508" "-12" "c.12508-12T>C" "r.(=)" "p.(=)" "" "0000652271" "00025496" "10" "12943" "0" "12943" "0" "c.12943G>A" "r.(?)" "p.(Ala4315Thr)" "" "0000652272" "00025496" "30" "13113" "0" "13113" "0" "c.13113G>A" "r.(=)" "p.(=)" "" "0000655805" "00025496" "30" "3237" "0" "3237" "0" "c.3237T>C" "r.(?)" "p.(Leu1079=)" "" "0000655806" "00025496" "30" "5045" "0" "5045" "0" "c.5045A>G" "r.(?)" "p.(Lys1682Arg)" "" "0000655807" "00025496" "30" "8143" "0" "8143" "0" "c.8143A>G" "r.(?)" "p.(Asn2715Asp)" "" "0000655808" "00025496" "50" "10379" "0" "10379" "0" "c.10379C>A" "r.(?)" "p.(Thr3460Lys)" "" "0000655809" "00025496" "30" "13346" "0" "13346" "0" "c.13346G>A" "r.(?)" "p.(Arg4449His)" "" "0000669956" "00025496" "50" "661" "0" "661" "0" "c.661A>T" "r.(?)" "p.(Met221Leu)" "" "0000669957" "00025496" "30" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Thr400Ile)" "" "0000669958" "00025496" "30" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Ala568Thr)" "" "0000669959" "00025496" "30" "4904" "0" "4904" "0" "c.4904A>G" "r.(?)" "p.(Asp1635Gly)" "" "0000669960" "00025496" "30" "7756" "0" "7756" "0" "c.7756T>C" "r.(?)" "p.(Tyr2586His)" "" "0000669961" "00025496" "50" "9097" "0" "9097" "0" "c.9097A>G" "r.(?)" "p.(Ile3033Val)" "" "0000669962" "00025496" "30" "11272" "0" "11272" "0" "c.11272T>C" "r.(?)" "p.(Ser3758Pro)" "" "0000669963" "00025496" "30" "12508" "-12" "12508" "-12" "c.12508-12T>C" "r.(=)" "p.(=)" "" "0000669964" "00025496" "10" "12943" "0" "12943" "0" "c.12943G>A" "r.(?)" "p.(Ala4315Thr)" "" "0000673959" "00025496" "90" "12937" "0" "12937" "0" "c.12937dup" "r.(?)" "p.(Glu4313Glyfs*18)" "" "0000673960" "00025496" "70" "6143" "0" "6143" "0" "c.6143C>G" "r.(?)" "p.(Thr2048Arg)" "" "0000678069" "00025496" "50" "6352" "0" "6352" "0" "c.6352G>A" "r.(?)" "p.(Gly2118Ser)" "" "0000678070" "00025496" "50" "7922" "0" "7922" "0" "c.7922T>C" "r.(?)" "p.(Phe2641Ser)" "" "0000678071" "00025496" "50" "8057" "0" "8057" "0" "c.8057C>A" "r.(?)" "p.(Thr2686Lys)" "" "0000678072" "00025496" "50" "10372" "0" "10372" "0" "c.10372A>G" "r.(?)" "p.(Met3458Val)" "" "0000678073" "00025496" "50" "10472" "0" "10472" "0" "c.10472G>A" "r.(?)" "p.(Arg3491His)" "" "0000678074" "00025496" "50" "11691" "-10" "11691" "-10" "c.11691-10T>A" "r.(=)" "p.(=)" "" "0000689970" "00025496" "50" "1997" "0" "1997" "0" "c.1997C>G" "r.(?)" "p.(Ala666Gly)" "" "0000689971" "00025496" "30" "2587" "0" "2587" "0" "c.2587T>C" "r.(?)" "p.(Leu863=)" "" "0000689972" "00025496" "50" "3538" "0" "3538" "0" "c.3538A>G" "r.(?)" "p.(Arg1180Gly)" "" "0000689973" "00025496" "50" "4775" "0" "4775" "0" "c.4775G>T" "r.(?)" "p.(Cys1592Phe)" "" "0000689974" "00025496" "30" "10183" "0" "10183" "0" "c.10183C>G" "r.(?)" "p.(Gln3395Glu)" "" "0000689975" "00025496" "90" "13183" "0" "13183" "0" "c.13183C>T" "r.(?)" "p.(Arg4395Ter)" "" "0000689976" "00025496" "90" "13301" "0" "13301" "0" "c.13301del" "r.(?)" "p.(Glu4434GlyfsTer52)" "" "0000712827" "00025496" "50" "10025" "0" "10025" "0" "c.10025T>C" "r.(?)" "p.(Val3342Ala)" "" "0000712828" "00025496" "50" "10183" "0" "10183" "0" "c.10183C>G" "r.(?)" "p.(Gln3395Glu)" "" "0000712829" "00025496" "50" "13495" "0" "13495" "0" "c.13495G>A" "r.(?)" "p.(Glu4499Lys)" "" "0000721400" "00025496" "50" "3648" "0" "3648" "0" "c.3648G>C" "r.(?)" "p.(Glu1216Asp)" "" "0000721401" "00025496" "90" "5778" "1" "5778" "1" "c.5778+1G>A" "r.spl?" "p.?" "" "0000721402" "00025496" "90" "6004" "0" "6004" "0" "c.6004C>T" "r.(?)" "p.(Arg2002Ter)" "" "0000721403" "00025496" "50" "6728" "0" "6728" "0" "c.6728G>A" "r.(?)" "p.(Arg2243Gln)" "" "0000721404" "00025496" "50" "8821" "0" "8821" "0" "c.8821G>A" "r.(?)" "p.(Asp2941Asn)" "" "0000721405" "00025496" "50" "9073" "0" "9073" "0" "c.9073A>G" "r.(?)" "p.(Arg3025Gly)" "" "0000721406" "00025496" "30" "9672" "0" "9672" "0" "c.9672C>T" "r.(?)" "p.(Val3224=)" "" "0000721407" "00025496" "70" "10568" "0" "10568" "0" "c.10568G>A" "r.(?)" "p.(Gly3523Glu)" "" "0000721408" "00025496" "50" "12175" "0" "12175" "0" "c.12175G>A" "r.(?)" "p.(Ala4059Thr)" "" "0000721409" "00025496" "50" "12370" "0" "12370" "0" "c.12370T>G" "r.(?)" "p.(Leu4124Val)" "" "0000721410" "00025496" "70" "13065" "0" "13067" "0" "c.13065_13067del" "r.(?)" "p.(Leu4356del)" "" "0000721411" "00025496" "30" "13303" "9" "13303" "9" "c.13303+9C>A" "r.(=)" "p.(=)" "" "0000803090" "00025496" "70" "384" "0" "384" "0" "c.384del" "r.(?)" "p.(Phe128Leufs*12)" "" "0000803091" "00025496" "50" "773" "0" "773" "0" "c.773T>C" "r.(?)" "p.(Ile258Thr)" "" "0000803092" "00025496" "90" "793" "0" "794" "0" "c.793_794insCAGCT" "r.(?)" "p.(Arg265Profs*5)" "" "0000803093" "00025496" "90" "2068" "0" "2068" "0" "c.2068dup" "r.(?)" "p.(Trp690Leufs*4)" "" "0000803094" "00025496" "50" "3466" "0" "3466" "0" "c.3466G>A" "r.(?)" "p.(Gly1156Arg)" "" "0000803095" "00025496" "30" "3765" "0" "3765" "0" "c.3765C>T" "r.(?)" "p.(Asp1255=)" "" "0000803096" "00025496" "30" "8145" "0" "8145" "0" "c.8145C>T" "r.(?)" "p.(Asn2715=)" "" "0000803097" "00025496" "50" "8533" "0" "8533" "0" "c.8533C>G" "r.(?)" "p.(Arg2845Gly)" "" "0000803098" "00025496" "70" "9824" "0" "9824" "0" "c.9824A>C" "r.(?)" "p.(Tyr3275Ser)" "" "0000803099" "00025496" "30" "10782" "0" "10782" "0" "c.10782G>A" "r.(?)" "p.(Pro3594=)" "" "0000803100" "00025496" "50" "11114" "0" "11114" "0" "c.11114A>G" "r.(?)" "p.(Tyr3705Cys)" "" "0000803101" "00025496" "50" "11458" "0" "11458" "0" "c.11458G>A" "r.(?)" "p.(Val3820Ile)" "" "0000803102" "00025496" "70" "13112" "0" "13112" "0" "c.13112C>T" "r.(?)" "p.(Pro4371Leu)" "" "0000803103" "00025496" "30" "13162" "8" "13162" "8" "c.13162+8C>G" "r.(=)" "p.(=)" "" "0000803104" "00025496" "30" "13398" "0" "13398" "0" "c.13398C>T" "r.(?)" "p.(Pro4466=)" "" "0000803105" "00025496" "50" "13407" "0" "13415" "0" "c.13407_13415dup" "r.(?)" "p.(Gln4470_Thr4472dup)" "" "0000814346" "00025496" "50" "4306" "0" "4306" "0" "c.4306C>T" "r.(?)" "p.(Arg1436Trp)" "" "0000851568" "00025496" "50" "3236" "0" "3236" "0" "c.3236T>C" "r.(?)" "p.(Leu1079Pro)" "" "0000851569" "00025496" "90" "4629" "0" "4629" "0" "c.4629G>A" "r.(?)" "p.(Trp1543*)" "" "0000851570" "00025496" "90" "6727" "0" "6727" "0" "c.6727C>T" "r.(?)" "p.(Arg2243*)" "" "0000851571" "00025496" "50" "7252" "0" "7252" "0" "c.7252C>G" "r.(?)" "p.(Leu2418Val)" "" "0000851572" "00025496" "50" "10642" "0" "10642" "0" "c.10642G>A" "r.(?)" "p.(Asp3548Asn)" "" "0000851573" "00025496" "50" "12344" "0" "12344" "0" "c.12344T>G" "r.(?)" "p.(Ile4115Ser)" "" "0000860719" "00025496" "90" "5778" "1" "5778" "1" "c.5778+1G>A" "r.spl?" "p.?" "" "0000860720" "00025496" "50" "7453" "0" "7453" "0" "c.7453C>T" "r.(?)" "p.(His2485Tyr)" "" "0000860721" "00025496" "50" "13120" "0" "13120" "0" "c.13120G>A" "r.(?)" "p.(Val4374Met)" "" "0000878541" "00025496" "70" "13303" "5" "13303" "5" "c.13303+5G>A" "r.(?)" "p.(?)" "" "0000881324" "00025496" "70" "8990" "0" "8990" "0" "c.8990G>A" "r.(?)" "p.(Arg2997Gln)" "" "0000881375" "00025496" "70" "10055" "0" "10055" "0" "c.10055C>T" "r.(?)" "p.(Thr3352Met)" "" "0000887816" "00025496" "90" "1320" "0" "1320" "0" "c.1320dup" "r.(?)" "p.(Leu441Ilefs*25)" "" "0000887817" "00025496" "70" "2712" "0" "2712" "0" "c.2712G>A" "r.(?)" "p.(Trp904*)" "" "0000887818" "00025496" "90" "4333" "0" "4333" "0" "c.4333C>T" "r.(?)" "p.(Arg1445*)" "" "0000887819" "00025496" "10" "4377" "15" "4377" "15" "c.4377+15A>G" "r.(=)" "p.(=)" "" "0000887820" "00025496" "90" "6978" "0" "6978" "0" "c.6978G>A" "r.(?)" "p.(Trp2326*)" "" "0000887821" "00025496" "50" "7922" "0" "7922" "0" "c.7922T>C" "r.(?)" "p.(Phe2641Ser)" "" "0000887822" "00025496" "70" "7922" "0" "7922" "0" "c.7922T>C" "r.(?)" "p.(Phe2641Ser)" "" "0000887823" "00025496" "90" "9706" "0" "9706" "0" "c.9706C>T" "r.(?)" "p.(Arg3236*)" "" "0000887824" "00025496" "70" "11497" "-3" "11497" "-3" "c.11497-3C>G" "r.spl?" "p.?" "" "0000912725" "00025496" "90" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Gln55*)" "" "0000912726" "00025496" "50" "8315" "0" "8315" "0" "c.8315A>G" "r.(?)" "p.(Glu2772Gly)" "" "0000929326" "00025496" "50" "9499" "0" "9499" "0" "c.9499A>C" "r.(?)" "p.(Thr3167Pro)" "" "0000933165" "00025496" "70" "7012" "0" "7012" "0" "c.7012C>T" "r.(?)" "p.(Arg2338Trp)" "" "0000933166" "00025496" "70" "5491" "0" "5491" "0" "c.5491T>A" "r.(?)" "p.(Ser1831Thr)" "" "0000964548" "00025496" "50" "7729" "0" "7729" "0" "c.7729G>C" "r.(?)" "p.(Asp2577His)" "" "0000964550" "00025496" "50" "10185" "0" "10185" "0" "c.10185A>G" "r.(?)" "p.(=)" "" "0000977654" "00025496" "10" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Thr400Ile)" "" "0000977655" "00025496" "10" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Ala568Thr)" "" "0000977656" "00025496" "10" "2835" "0" "2835" "0" "c.2835A>G" "r.(?)" "p.(Gln945=)" "" "0000977657" "00025496" "10" "4904" "0" "4904" "0" "c.4904A>G" "r.(?)" "p.(Asp1635Gly)" "" "0000977658" "00025496" "50" "9783" "0" "9783" "0" "c.9783G>C" "r.(?)" "p.(Glu3261Asp)" "" "0000977659" "00025496" "50" "10867" "0" "10867" "0" "c.10867A>G" "r.(?)" "p.(Ile3623Val)" "" "0000977660" "00025496" "50" "11498" "0" "11498" "0" "c.11498C>T" "r.(?)" "p.(Ala3833Val)" "" "0000984915" "00025496" "90" "2152" "0" "2153" "0" "c.2152_2153del" "r.(?)" "p.(Val718Glnfs*3)" "" "0000984920" "00025496" "50" "11534" "0" "11534" "0" "c.11534G>T" "r.(?)" "p.(Arg3845Leu)" "" "0000996402" "00025496" "90" "503" "0" "503" "0" "c.503del" "r.(?)" "p.(Val168Glyfs*25)" "" "0000996403" "00025496" "30" "640" "0" "640" "0" "c.640A>G" "r.(?)" "p.(Ile214Val)" "" "0000996404" "00025496" "50" "3040" "0" "3040" "0" "c.3040C>G" "r.(?)" "p.(Gln1014Glu)" "" "0000996405" "00025496" "30" "3045" "0" "3045" "0" "c.3045G>T" "r.(?)" "p.(Glu1015Asp)" "" "0000996406" "00025496" "30" "3263" "0" "3263" "0" "c.3263T>C" "r.(?)" "p.(Ile1088Thr)" "" "0000996407" "00025496" "50" "3356" "0" "3356" "0" "c.3356G>A" "r.(?)" "p.(Ser1119Asn)" "" "0000996408" "00025496" "30" "3412" "0" "3412" "0" "c.3412T>C" "r.(?)" "p.(Phe1138Leu)" "" "0000996409" "00025496" "30" "3946" "0" "3946" "0" "c.3946A>G" "r.(?)" "p.(Met1316Val)" "" "0000996410" "00025496" "30" "4944" "6" "4944" "6" "c.4944+6del" "r.(=)" "p.(=)" "" "0000996411" "00025496" "50" "6089" "0" "6089" "0" "c.6089T>C" "r.(?)" "p.(Leu2030Ser)" "" "0000996412" "00025496" "50" "7052" "0" "7052" "0" "c.7052A>G" "r.(?)" "p.(Asp2351Gly)" "" "0000996413" "00025496" "70" "7267" "-1" "7267" "-1" "c.7267-1G>T" "r.spl?" "p.?" "" "0000996414" "00025496" "70" "7307" "0" "7310" "0" "c.7307_7310del" "r.(?)" "p.(Lys2436Argfs*2)" "" "0000996415" "00025496" "30" "7765" "0" "7765" "0" "c.7765G>A" "r.(?)" "p.(Val2589Ile)" "" "0000996416" "00025496" "30" "7864" "0" "7864" "0" "c.7864G>A" "r.(?)" "p.(Ala2622Thr)" "" "0000996417" "00025496" "50" "8072" "0" "8072" "0" "c.8072A>G" "r.(?)" "p.(Gln2691Arg)" "" "0000996418" "00025496" "30" "8822" "0" "8822" "0" "c.8822A>G" "r.(?)" "p.(Asp2941Gly)" "" "0000996419" "00025496" "30" "9097" "0" "9097" "0" "c.9097A>G" "r.(?)" "p.(Ile3033Val)" "" "0000996420" "00025496" "70" "9269" "0" "9269" "0" "c.9269dup" "r.(?)" "p.(Asn3090Lysfs*2)" "" "0000996421" "00025496" "50" "10246" "0" "10246" "0" "c.10246G>A" "r.(?)" "p.(Ala3416Thr)" "" "0000996422" "00025496" "30" "10372" "0" "10372" "0" "c.10372A>G" "r.(?)" "p.(Met3458Val)" "" "0000996423" "00025496" "50" "10622" "0" "10622" "0" "c.10622A>G" "r.(?)" "p.(Glu3541Gly)" "" "0000996424" "00025496" "30" "10739" "0" "10739" "0" "c.10739G>A" "r.(?)" "p.(Arg3580His)" "" "0000996425" "00025496" "30" "10988" "0" "10988" "0" "c.10988G>C" "r.(?)" "p.(Ser3663Thr)" "" "0000996426" "00025496" "50" "13508" "0" "13508" "0" "c.13508C>T" "r.(?)" "p.(Ala4503Val)" "" "0000996427" "00025496" "30" "13547" "0" "13547" "0" "c.13547C>T" "r.(?)" "p.(Ala4516Val)" "" "0001014336" "00025496" "50" "495" "3" "495" "3" "c.495+3A>T" "r.spl?" "p.?" "" "0001014337" "00025496" "30" "2783" "0" "2783" "0" "c.2783A>T" "r.(?)" "p.(Asp928Val)" "" "0001014338" "00025496" "90" "2849" "0" "2849" "0" "c.2849del" "r.(?)" "p.(Leu950Cysfs*12)" "" "0001014339" "00025496" "50" "3174" "0" "3174" "0" "c.3174T>A" "r.(?)" "p.(=)" "" "0001014340" "00025496" "30" "7585" "0" "7585" "0" "c.7585G>C" "r.(?)" "p.(Glu2529Gln)" "" "0001014341" "00025496" "50" "7913" "0" "7913" "0" "c.7913A>G" "r.(?)" "p.(Gln2638Arg)" "" "0001025373" "00025496" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Asp56Thrfs*13)" "" "0001025374" "00025496" "50" "2176" "0" "2176" "0" "c.2176G>T" "r.(?)" "p.(Ala726Ser)" "" "0001025375" "00025496" "50" "3646" "0" "3646" "0" "c.3646G>A" "r.(?)" "p.(Glu1216Lys)" "" "0001025376" "00025496" "50" "4829" "0" "4829" "0" "c.4829G>T" "r.(?)" "p.(Cys1610Phe)" "" "0001025377" "00025496" "50" "5756" "0" "5756" "0" "c.5756G>C" "r.(?)" "p.(Cys1919Ser)" "" "0001025378" "00025496" "50" "8798" "-5" "8798" "-5" "c.8798-5G>A" "r.spl?" "p.?" "" "0001025379" "00025496" "50" "8809" "0" "8809" "0" "c.8809G>A" "r.(?)" "p.(Asp2937Asn)" "" "0001025380" "00025496" "50" "12907" "0" "12907" "0" "c.12907C>G" "r.(?)" "p.(Leu4303Val)" "" "0001027589" "00025496" "30" "2570" "0" "2570" "0" "c.2570G>A" "r.(?)" "p.(Arg857Gln)" "" "0001027590" "00025496" "50" "13120" "0" "13120" "0" "c.13120G>A" "r.(?)" "p.(Val4374Met)" "" "0001027591" "00025496" "30" "8230" "0" "8230" "0" "c.8230C>T" "r.(?)" "p.(Arg2744Cys)" "" "0001027601" "00025496" "50" "9305" "0" "9305" "0" "c.9305G>A" "r.(?)" "p.(Gly3102Asp)" "" "0001027602" "00025496" "50" "4945" "-12" "4945" "-12" "c.4945-12T>C" "r.(?)" "p.(=)" "" "0001027603" "00025496" "90" "11839" "1" "11839" "1" "c.11839+1G>A" "r.spl" "p.?" "" "0001027608" "00025496" "30" "13010" "0" "13010" "0" "c.13010G>A" "r.(?)" "p.(Ser4337Asn)" "" "0001027609" "00025496" "50" "5132" "0" "5132" "0" "c.5132A>G" "r.(?)" "p.(Gln1711Arg)" "" "0001027657" "00025496" "50" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Glu414Gly)" "" "0001027658" "00025496" "30" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Arg963Gly)" "" "0001027659" "00025496" "10" "4202" "0" "4202" "0" "c.4202A>G" "r.(?)" "p.(Gln1401Arg)" "" "0001027660" "00025496" "50" "4775" "0" "4775" "0" "c.4775G>T" "r.(?)" "p.(Cys1592Phe)" "" "0001027661" "00025496" "30" "5132" "0" "5132" "0" "c.5132A>G" "r.(?)" "p.(Gln1711Arg)" "" "0001027662" "00025496" "50" "7729" "0" "7729" "0" "c.7729G>A" "r.(?)" "p.(Asp2577Asn)" "" "0001027663" "00025496" "30" "8023" "0" "8023" "0" "c.8023A>G" "r.(?)" "p.(Ile2675Val)" "" "0001027664" "00025496" "30" "8072" "0" "8072" "0" "c.8072A>G" "r.(?)" "p.(Gln2691Arg)" "" "0001027665" "00025496" "30" "8533" "0" "8533" "0" "c.8533C>G" "r.(?)" "p.(Arg2845Gly)" "" "0001027666" "00025496" "50" "9238" "0" "9238" "0" "c.9238C>A" "r.(?)" "p.(Leu3080Met)" "" "0001027667" "00025496" "50" "9380" "0" "9380" "0" "c.9380T>G" "r.(?)" "p.(Leu3127Arg)" "" "0001027668" "00025496" "30" "10379" "0" "10379" "0" "c.10379C>A" "r.(?)" "p.(Thr3460Lys)" "" "0001027669" "00025496" "50" "11267" "0" "11267" "0" "c.11267G>A" "r.(?)" "p.(Arg3756His)" "" "0001027670" "00025496" "30" "12344" "0" "12344" "0" "c.12344T>G" "r.(?)" "p.(Ile4115Ser)" "" "0001036308" "00025496" "30" "661" "0" "661" "0" "c.661A>T" "r.(?)" "p.(Met221Leu)" "" "0001036309" "00025496" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "0001036310" "00025496" "50" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Gly411Glu)" "" "0001036311" "00025496" "10" "1426" "-9" "1426" "-9" "c.1426-9T>C" "r.(=)" "p.(=)" "" "0001036312" "00025496" "30" "2750" "0" "2750" "0" "c.2750A>T" "r.(?)" "p.(Glu917Val)" "" "0001036313" "00025496" "30" "4987" "0" "4987" "0" "c.4987C>T" "r.(?)" "p.(=)" "" "0001036314" "00025496" "10" "6117" "0" "6117" "0" "c.6117G>A" "r.(?)" "p.(=)" "" "0001036315" "00025496" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Asp2064Asn)" "" "0001036316" "00025496" "70" "6547" "-963" "6547" "-963" "c.6547-963G>A" "r.(=)" "p.(=)" "" "0001036317" "00025496" "30" "6547" "-5" "6547" "-5" "c.6547-5C>G" "r.spl?" "p.?" "" "0001036318" "00025496" "50" "7729" "0" "7729" "0" "c.7729G>A" "r.(?)" "p.(Asp2577Asn)" "" "0001036319" "00025496" "10" "9435" "0" "9435" "0" "c.9435G>A" "r.(?)" "p.(Thr3145=)" "" "0001036320" "00025496" "50" "9790" "0" "9790" "0" "c.9790C>T" "r.(?)" "p.(Pro3264Ser)" "" "0001036321" "00025496" "30" "9935" "0" "9935" "0" "c.9935A>T" "r.(?)" "p.(Asp3312Val)" "" "0001036322" "00025496" "70" "13183" "0" "13183" "0" "c.13183C>T" "r.(?)" "p.(Arg4395Ter)" "" "0001052614" "00025496" "50" "1147" "0" "1147" "0" "c.1147C>T" "r.(?)" "p.(Arg383Trp)" "" "0001052615" "00025496" "30" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Pro525Ser)" "" "0001052616" "00025496" "50" "1594" "-2" "1594" "-2" "c.1594-2A>G" "r.spl?" "p.?" "" "0001052617" "00025496" "50" "2226" "0" "2226" "0" "c.2226A>G" "r.(?)" "p.(Ile742Met)" "" "0001052618" "00025496" "50" "2875" "0" "2875" "0" "c.2875C>T" "r.(?)" "p.(Pro959Ser)" "" "0001052619" "00025496" "50" "3494" "0" "3494" "0" "c.3494A>G" "r.(?)" "p.(Asp1165Gly)" "" "0001052620" "00025496" "50" "6842" "0" "6842" "0" "c.6842C>A" "r.(?)" "p.(Thr2281Asn)" "" "0001052621" "00025496" "50" "8119" "0" "8119" "0" "c.8119A>G" "r.(?)" "p.(Ile2707Val)" "" "0001052622" "00025496" "30" "8478" "0" "8478" "0" "c.8478C>T" "r.(?)" "p.(His2826=)" "" "0001052623" "00025496" "50" "8751" "0" "8751" "0" "c.8751dup" "r.(?)" "p.(Leu2918Serfs*3)" "" "0001052624" "00025496" "50" "8888" "0" "8888" "0" "c.8888C>A" "r.(?)" "p.(Ser2963Tyr)" "" "0001052625" "00025496" "30" "8973" "0" "8973" "0" "c.8973G>A" "r.(?)" "p.(=)" "" "0001052626" "00025496" "10" "8990" "0" "8990" "0" "c.8990G>A" "r.(?)" "p.(Arg2997Gln)" "" "0001052627" "00025496" "50" "10123" "0" "10123" "0" "c.10123A>G" "r.(?)" "p.(Thr3375Ala)" "" "0001052628" "00025496" "50" "10471" "0" "10471" "0" "c.10471C>T" "r.(?)" "p.(Arg3491Cys)" "" "0001052629" "00025496" "50" "10692" "-7" "10692" "-7" "c.10692-7C>T" "r.(=)" "p.(=)" "" "0001052630" "00025496" "30" "10725" "0" "10725" "0" "c.10725T>C" "r.(?)" "p.(=)" "" "0001052631" "00025496" "70" "13103" "0" "13104" "0" "c.13103_13104del" "r.(?)" "p.(Leu4368HisfsTer30)" "" "0001052632" "00025496" "30" "13263" "0" "13263" "0" "c.13263G>C" "r.(?)" "p.(Pro4421=)" "" "0001057994" "00025496" "70" "8888" "0" "8888" "0" "c.8888C>A" "r.(?)" "p.(Ser2963Tyr)" "" "0001057998" "00025496" "70" "7294" "0" "7294" "0" "c.7294C>T" "r.(?)" "p.(Arg2432Trp)" "" "0001058005" "00025496" "70" "8671" "0" "8671" "0" "c.8671C>T" "r.(?)" "p.(Arg2891Trp)" "" "0001058604" "00025496" "90" "10691" "2" "10691" "2" "c.10691+2T>C" "r.spl" "p.?" "" "0001058605" "00025496" "70" "13523" "0" "13543" "0" "c.13523_13543dup" "r.(?)" "p.(Ala4508_Leu4514dup)" "" "0001060785" "00025496" "70" "2531" "0" "2531" "0" "c.2531G>A" "r.(?)" "p.(Trp844Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 83 "{{screeningid}}" "{{variantid}}" "0000229755" "0000470947" "0000229755" "0000470948" "0000289360" "0000645289" "0000289360" "0000645327" "0000295554" "0000652243" "0000295555" "0000652244" "0000295556" "0000652245" "0000295557" "0000652246" "0000295558" "0000652247" "0000295559" "0000652248" "0000295560" "0000652249" "0000295561" "0000652250" "0000295562" "0000652251" "0000295563" "0000652252" "0000295564" "0000652253" "0000295565" "0000652254" "0000295566" "0000652255" "0000295567" "0000652256" "0000295568" "0000652257" "0000295569" "0000652258" "0000295570" "0000652259" "0000295571" "0000652260" "0000295572" "0000652261" "0000295573" "0000652262" "0000295574" "0000652263" "0000295575" "0000652264" "0000295576" "0000652265" "0000295577" "0000652266" "0000295578" "0000652267" "0000295579" "0000652268" "0000295580" "0000652269" "0000295581" "0000652270" "0000295582" "0000652271" "0000295583" "0000652272" "0000306268" "0000669956" "0000306269" "0000669957" "0000306270" "0000669958" "0000306271" "0000669959" "0000306272" "0000669960" "0000306273" "0000669961" "0000306274" "0000669962" "0000306275" "0000669963" "0000306276" "0000669964" "0000307338" "0000673959" "0000307338" "0000673960" "0000328762" "0000712827" "0000328762" "0000712828" "0000328762" "0000712829" "0000386674" "0000814346" "0000420965" "0000881324" "0000420965" "0000881375" "0000436800" "0000933165" "0000436800" "0000933166" "0000451139" "0000984915" "0000451143" "0000984920" "0000463960" "0001027589" "0000463960" "0001027601" "0000463960" "0001027608" "0000463961" "0001027590" "0000463961" "0001027602" "0000463961" "0001027609" "0000463962" "0001027591" "0000463962" "0001027603" "0000464013" "0001027657" "0000464014" "0001027658" "0000464015" "0001027659" "0000464016" "0001027660" "0000464017" "0001027661" "0000464018" "0001027662" "0000464019" "0001027663" "0000464020" "0001027664" "0000464021" "0001027665" "0000464022" "0001027666" "0000464023" "0001027667" "0000464024" "0001027668" "0000464025" "0001027669" "0000464026" "0001027670" "0000469922" "0001057998" "0000469929" "0001058005" "0000469942" "0001057994" "0000470482" "0001058604" "0000470483" "0001058605" "0000472331" "0001060785"