### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAH5) # 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}}" "DNAH5" "dynein, axonemal, heavy chain 5" "5" "p15.2" "unknown" "NG_013081.2" "UD_131712595233" "" "https://www.LOVD.nl/DNAH5" "" "1" "2950" "1767" "603335" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/DNAH5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-02-10 10:46:04" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006519" "DNAH5" "dynein, axonemal, heavy chain 5" "001" "NM_001369.2" "" "NP_001360.1" "" "" "" "-42" "15531" "13875" "13944589" "13690437" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "02778" "CILD3" "dyskinesia, ciliary, primary, 3 (CILD-3)" "" "608644" "" "" "" "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" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNAH5" "00332" "DNAH5" "02778" ## Individuals ## Do not remove or alter this header ## ## Count = 54 "{{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}}" "00003290" "" "" "" "1" "" "00552" "" "" "" "" "" "" "0" "" "" "" "" "00050565" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00183322" "" "" "" "1" "" "02596" "" "" "" "" "" "" "0" "" "" "Tunisian" "DCP1793" "00183323" "" "" "" "1" "" "02596" "" "" "" "" "" "" "0" "" "" "Tunisian" "DCP1778" "00261174" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam8" "00266293" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00293749" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293750" "" "" "" "133" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293751" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293753" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293754" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293755" "" "" "" "219" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293756" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293757" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293759" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293761" "" "" "" "260" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293762" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295206" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295207" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303549" "" "" "" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "5-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents" "F" "yes" "Israel" "" "0" "" "" "" "FamOI-11PatII1" "00303550" "" "" "" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "F" "yes" "Israel" "" "0" "" "" "" "FamOI-11PatII6" "00303551" "" "" "" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "F" "" "Israel" "" "0" "" "" "" "FamOI-14PatII1" "00303552" "" "" "" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "M" "" "Israel" "" "0" "" "" "" "FamOI-24PatII1" "00303553" "" "" "" "1" "" "00006" "{PMID:Ta_Shma 2020:30148830}" "" "F" "" "Israel" "" "0" "" "" "" "FamOI-24PatII2" "00305011" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305012" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305013" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305015" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305330" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306138" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "75" "00326207" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00327626" "" "" "" "1" "" "02551" "" "" "M" "" "" "" "0" "" "" "" "" "00358952" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71882" "00358976" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case27419" "00410925" "" "" "" "1" "" "00006" "del Rocío Perez Baca BeSHG2022, AbsT25, {PMID:Del Rocio Perez Baca 2023:37292950}, {PMID:Del Rocio Perez Baca 2024:38412861}" "" "M" "" "" "" "0" "" "" "" "Pat11" "00438601" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0052" "00462325" "" "" "" "2" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems; 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat10" "00462326" "" "" "" "2" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems; 2-generation family, 2 affected sisters, unaffected parents" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat11" "00462362" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462363" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462364" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462365" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462366" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462367" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462368" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462369" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462370" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462371" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462372" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462373" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462374" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462375" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462376" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462377" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 52 "{{individualid}}" "{{diseaseid}}" "00050565" "00198" "00183322" "00332" "00183323" "00332" "00261174" "05162" "00293749" "00198" "00293750" "00198" "00293751" "00198" "00293753" "00198" "00293754" "00198" "00293755" "00198" "00293756" "00198" "00293757" "00198" "00293759" "00198" "00293761" "00198" "00293762" "00198" "00295206" "00198" "00295207" "00198" "00303549" "00201" "00303550" "00201" "00303551" "00201" "00303552" "00201" "00303553" "00201" "00305011" "00198" "00305012" "00198" "00305013" "00198" "00305015" "00198" "00305330" "00198" "00306138" "02778" "00326207" "00198" "00327626" "00198" "00358952" "04214" "00358976" "04214" "00410925" "05611" "00438601" "06906" "00462325" "00332" "00462326" "00332" "00462362" "00332" "00462363" "00332" "00462364" "00332" "00462365" "00332" "00462366" "00332" "00462367" "00332" "00462368" "00332" "00462369" "00332" "00462370" "00332" "00462371" "00332" "00462372" "00332" "00462373" "00332" "00462374" "00332" "00462375" "00332" "00462376" "00332" "00462377" "00332" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00201, 00332, 02778, 04214, 05162, 05611, 06906 ## Count = 35 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037177" "00198" "00050565" "00006" "Isolated (sporadic)" "" "cognitive impairment, restlessness, inappropriate behavior" "" "" "" "" "" "" "" "" "" "" "" "0000144060" "00332" "00183322" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144061" "00332" "00183323" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199680" "05162" "00261174" "00006" "Isolated (sporadic)" "7y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); abnormal corpus callosum (HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; mild scoliosis; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); strabism, exotropia, sleep apnea; deep set eyes, long stright nose, flat malar, self-stimulating behavior" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000204069" "00198" "00266293" "02551" "Unknown" "" "Bronchiectasis (HP:0002110)" "" "" "" "" "" "" "" "" "" "" "" "0000230625" "00201" "00303549" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough" "" "" "" "" "" "" "" "" "CILD3" "infertility" "" "0000230626" "00201" "00303550" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough" "" "" "" "" "" "" "" "" "CILD3" "infertility" "" "0000230627" "00201" "00303551" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., situs solitus; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough" "" "" "" "" "" "" "" "" "CILD3" "infertility" "" "0000230628" "00201" "00303552" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough" "" "" "" "" "" "" "" "" "CILD3" "infertility" "" "0000230629" "00201" "00303553" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., situs inversus totalis; bronchiectasis, recurrent pneumonia, recurrent sinusitis, recurrent otitis media and chronic cough" "" "" "" "" "" "" "" "" "CILD3" "infertility" "" "0000231982" "02778" "00306138" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000244668" "00198" "00326207" "02551" "Unknown" "" "Ciliary dyskinesia (HP:0012265)" "" "" "" "" "" "" "" "" "" "" "" "0000245871" "00198" "00327626" "02551" "Unknown" "" "Bronchiectasis (HP:0002110)" "" "" "" "" "" "" "" "" "" "" "" "0000254250" "04214" "00358952" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000254274" "04214" "00358976" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000303016" "05611" "00410925" "00006" "Isolated (sporadic)" "" "see paper; ..., (mild) intellectual disability, postnatal growth retardation, feeding difficulties, facial dysmorphism" "" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "" "0000328504" "06906" "00438601" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000349824" "00332" "00462325" "00006" "Unknown" "" "bronchiectasis, chronic sinusitis; mother recurrent abortions, ectopic pregnancy" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349825" "00332" "00462326" "00006" "Unknown" "" "chronic respiratory infections, ultrastructural defects cilia (significant microtubular disorganizations, including distorted outer dynein arms)" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349861" "00332" "00462362" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349862" "00332" "00462363" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349863" "00332" "00462364" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349864" "00332" "00462365" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349865" "00332" "00462366" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349866" "00332" "00462367" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349867" "00332" "00462368" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349868" "00332" "00462369" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349869" "00332" "00462370" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349870" "00332" "00462371" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349871" "00332" "00462372" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349872" "00332" "00462373" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349873" "00332" "00462374" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349874" "00332" "00462375" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349875" "00332" "00462376" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349876" "00332" "00462377" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" ## Screenings ## Do not remove or alter this header ## ## Count = 54 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003216" "00003290" "1" "00552" "00552" "2013-11-05 19:21:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000050510" "00050565" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000184283" "00183322" "1" "02596" "02596" "2018-10-23 00:09:07" "" "" "SEQ-NG" "DNA" "" "" "0000184284" "00183323" "1" "02596" "02596" "2018-10-23 00:16:12" "" "" "SEQ-NG" "DNA" "" "" "0000262280" "00261174" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267416" "00266293" "1" "02551" "02551" "2019-10-21 10:58:47" "" "" "SEQ" "DNA" "" "" "0000294917" "00293749" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294918" "00293750" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294919" "00293751" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294921" "00293753" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294922" "00293754" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294923" "00293755" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294924" "00293756" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294925" "00293757" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294927" "00293759" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294929" "00293761" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294930" "00293762" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296374" "00295206" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296375" "00295207" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304677" "00303549" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304678" "00303550" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ" "DNA" "" "" "0000304679" "00303551" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304680" "00303552" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304681" "00303553" "1" "00006" "00006" "2020-06-16 09:07:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306140" "00305011" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306141" "00305012" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306142" "00305013" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306144" "00305015" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306459" "00305330" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307269" "00306138" "1" "03695" "03695" "2020-07-08 21:39:15" "" "" "SEQ-NG" "DNA" "" "" "0000327421" "00326207" "1" "02551" "02551" "2021-01-11 10:28:10" "00001" "2021-01-11 10:28:53" "SEQ" "DNA" "" "" "0000328840" "00327626" "1" "02551" "02551" "2021-01-25 10:42:01" "" "" "SEQ" "DNA" "" "" "0000360189" "00358952" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360213" "00358976" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000412190" "00410925" "1" "00006" "00006" "2022-05-30 15:55:31" "" "" "arraySNP" "DNA" "" "" "0000440083" "00438601" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000463957" "00462325" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463958" "00462326" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463994" "00462362" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463995" "00462363" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463996" "00462364" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463997" "00462365" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463998" "00462366" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463999" "00462367" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464000" "00462368" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464001" "00462369" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464002" "00462370" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464003" "00462371" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464004" "00462372" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464005" "00462373" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464006" "00462374" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464007" "00462375" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464008" "00462376" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464009" "00462377" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000003216" "DNAH5" "0000050510" "GSPT2" "0000184283" "DNAH5" "0000184284" "DNAH5" "0000262280" "DLL1" "0000304677" "DNAH5" "0000304678" "DNAH5" "0000304678" "MNS1" "0000304679" "DNAH5" "0000304680" "DNAH5" "0000304681" "DNAH5" "0000307269" "DNAH5" ## 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 = 400 "{{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}}" "0000018015" "2" "55" "5" "13736021" "13736021" "subst" "0.000329563" "00006" "DNAH5_000001" "g.13736021G>A" "" "" "" "" "variant marked as interesting (probably affects the function of the gene with phenotypic consequences) from an exome analysis. Please contact me." "Unknown" "" "" "1" "" "" "g.13735912G>A" "" "VUS" "" "0000018016" "2" "55" "5" "13900321" "13900321" "subst" "0.00987779" "00006" "DNAH5_000002" "g.13900321G>T" "" "" "" "" "variant marked as interesting (probably affects the function of the gene with phenotypic consequences) from an exome analysis. Please contact me." "Unknown" "" "" "1" "" "" "g.13900212G>T" "" "VUS" "" "0000021763" "0" "75" "5" "13824434" "13824434" "subst" "0" "00552" "DNAH5_000003" "g.13824434A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13824325A>T" "" "likely pathogenic" "" "0000079490" "0" "90" "5" "10973413" "15937446" "del" "0" "00006" "CTNND2_000002" "g.10973413_15937446del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000247949" "0" "10" "5" "13882841" "13882841" "subst" "0.253653" "02325" "DNAH5_000085" "g.13882841A>G" "" "" "" "DNAH5(NM_001369.2):c.3258T>C (p.L1086=), DNAH5(NM_001369.3):c.3258T>C (p.L1086=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13882732A>G" "" "benign" "" "0000247950" "0" "10" "5" "13900345" "13900345" "subst" "0.497596" "02325" "DNAH5_000101" "g.13900345A>G" "" "" "" "DNAH5(NM_001369.2):c.2229T>C (p.D743=), DNAH5(NM_001369.3):c.2229T>C (p.D743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13900236A>G" "" "benign" "" "0000247951" "0" "10" "5" "13913885" "13913885" "subst" "0.418606" "02325" "DNAH5_000105" "g.13913885A>G" "" "" "" "DNAH5(NM_001369.2):c.1503T>C (p.I501=), DNAH5(NM_001369.3):c.1503T>C (p.I501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13913776A>G" "" "benign" "" "0000247983" "0" "10" "5" "13944512" "13944512" "subst" "0.936535" "02325" "DNAH5_000118" "g.13944512A>C" "" "" "" "DNAH5(NM_001369.2):c.36T>G (p.H12Q), DNAH5(NM_001369.3):c.36T>G (p.H12Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13944403A>C" "" "benign" "" "0000248016" "0" "10" "5" "13845107" "13845107" "subst" "0.377375" "02325" "DNAH5_000071" "g.13845107A>G" "" "" "" "DNAH5(NM_001369.2):c.5115-5T>C, DNAH5(NM_001369.3):c.5115-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13844998A>G" "" "benign" "" "0000248017" "0" "10" "5" "13868112" "13868112" "del" "0" "02325" "DNAH5_000081" "g.13868112del" "" "" "" "DNAH5(NM_001369.2):c.3835-3delT, DNAH5(NM_001369.3):c.3835-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13868003del" "" "benign" "" "0000249732" "0" "50" "5" "13708395" "13708395" "subst" "0.000422586" "02325" "DNAH5_000013" "g.13708395A>C" "" "" "" "DNAH5(NM_001369.3):c.13175T>G (p.(Phe4392Cys), p.F4392C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13708286A>C" "" "VUS" "" "0000249773" "0" "50" "5" "13891219" "13891219" "subst" "0.00113717" "02325" "DNAH5_000097" "g.13891219A>T" "" "" "" "DNAH5(NM_001369.3):c.2443T>A (p.L815M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13891110A>T" "" "VUS" "" "0000250520" "0" "90" "5" "13753399" "13753399" "del" "0.000162831" "02329" "DNAH5_000034" "g.13753399del" "" "" "" "DNAH5(NM_001369.2):c.10815delT (p.(Pro3606HisfsTer23)), DNAH5(NM_001369.2):c.10815delT (p.P3606Hfs*23), DNAH5(NM_001369.3):c.10815delT (p.P3606Hfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753290del" "" "pathogenic" "" "0000253210" "0" "10" "5" "13882841" "13882841" "subst" "0.253653" "01943" "DNAH5_000085" "g.13882841A>G" "" "" "" "DNAH5(NM_001369.2):c.3258T>C (p.L1086=), DNAH5(NM_001369.3):c.3258T>C (p.L1086=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13882732A>G" "" "benign" "" "0000253211" "0" "10" "5" "13900345" "13900345" "subst" "0.497596" "01943" "DNAH5_000101" "g.13900345A>G" "" "" "" "DNAH5(NM_001369.2):c.2229T>C (p.D743=), DNAH5(NM_001369.3):c.2229T>C (p.D743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13900236A>G" "" "benign" "" "0000253212" "0" "10" "5" "13913885" "13913885" "subst" "0.418606" "01943" "DNAH5_000105" "g.13913885A>G" "" "" "" "DNAH5(NM_001369.2):c.1503T>C (p.I501=), DNAH5(NM_001369.3):c.1503T>C (p.I501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13913776A>G" "" "benign" "" "0000253244" "0" "10" "5" "13944512" "13944512" "subst" "0.936535" "01943" "DNAH5_000118" "g.13944512A>C" "" "" "" "DNAH5(NM_001369.2):c.36T>G (p.H12Q), DNAH5(NM_001369.3):c.36T>G (p.H12Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13944403A>C" "" "benign" "" "0000253277" "0" "10" "5" "13845107" "13845107" "subst" "0.377375" "01943" "DNAH5_000071" "g.13845107A>G" "" "" "" "DNAH5(NM_001369.2):c.5115-5T>C, DNAH5(NM_001369.3):c.5115-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13844998A>G" "" "benign" "" "0000253278" "0" "10" "5" "13868112" "13868112" "del" "0" "01943" "DNAH5_000081" "g.13868112del" "" "" "" "DNAH5(NM_001369.2):c.3835-3delT, DNAH5(NM_001369.3):c.3835-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13868003del" "" "benign" "" "0000253443" "0" "10" "5" "13716797" "13716797" "subst" "0.0094205" "01943" "DNAH5_000017" "g.13716797A>G" "" "" "" "DNAH5(NM_001369.2):c.12708T>C (p.G4236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13716688A>G" "" "benign" "" "0000253614" "0" "10" "5" "13901641" "13901641" "subst" "0.0073637" "01943" "DNAH5_000102" "g.13901641A>C" "" "" "" "DNAH5(NM_001369.2):c.1772T>G (p.L591R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13901532A>C" "" "benign" "" "0000253781" "0" "10" "5" "13789035" "13789035" "subst" "0.0270784" "01943" "DNAH5_000050" "g.13789035A>G" "" "" "" "DNAH5(NM_001369.2):c.8449-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13788926A>G" "" "benign" "" "0000253782" "0" "10" "5" "13814968" "13814968" "subst" "0.00368061" "01943" "DNAH5_000055" "g.13814968A>G" "" "" "" "DNAH5(NM_001369.2):c.6989-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13814859A>G" "" "benign" "" "0000253783" "0" "10" "5" "13850750" "13850750" "subst" "0.385967" "01943" "DNAH5_000072" "g.13850750A>G" "" "" "" "DNAH5(NM_001369.2):c.5114+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13850641A>G" "" "benign" "" "0000253784" "0" "10" "5" "13871653" "13871653" "subst" "0.00251745" "01943" "DNAH5_000083" "g.13871653A>G" "" "" "" "DNAH5(NM_001369.2):c.3598+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13871544A>G" "" "benign" "" "0000253785" "0" "10" "5" "13886263" "13886263" "del" "0" "01943" "DNAH5_000091" "g.13886263del" "" "" "" "DNAH5(NM_001369.2):c.2578-7delT, DNAH5(NM_001369.2):c.2578-9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13886154del" "" "benign" "" "0000253786" "0" "10" "5" "13931366" "13931366" "subst" "0.00558123" "01943" "DNAH5_000117" "g.13931366A>G" "" "" "" "DNAH5(NM_001369.2):c.58-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13931257A>G" "" "benign" "" "0000256074" "0" "50" "5" "13916533" "13916533" "subst" "0.000750273" "01943" "DNAH5_000109" "g.13916533A>G" "" "" "" "DNAH5(NM_001369.2):c.1121T>C (p.I374T), DNAH5(NM_001369.3):c.1121T>C (p.(Ile374Thr), p.I374T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13916424A>G" "" "VUS" "" "0000256078" "0" "50" "5" "13727736" "13727736" "subst" "3.25121E-5" "01943" "DNAH5_000026" "g.13727736A>C" "" "" "" "DNAH5(NM_001369.2):c.11913T>G (p.I3971M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13727627A>C" "" "VUS" "" "0000267454" "0" "10" "5" "13719089" "13719089" "subst" "0.424915" "02325" "DNAH5_000022" "g.13719089G>A" "" "" "" "DNAH5(NM_001369.2):c.12401C>T (p.A4134V), DNAH5(NM_001369.3):c.12401C>T (p.A4134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13718980G>A" "" "benign" "" "0000267455" "0" "10" "5" "13719022" "13719022" "subst" "0.414276" "02325" "DNAH5_000021" "g.13719022T>G" "" "" "" "DNAH5(NM_001369.2):c.12468A>C (p.G4156=), DNAH5(NM_001369.3):c.12468A>C (p.G4156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13718913T>G" "" "benign" "" "0000267456" "0" "10" "5" "13714740" "13714740" "subst" "0.411596" "02325" "DNAH5_000015" "g.13714740G>A" "" "" "" "DNAH5(NM_001369.2):c.12910-11C>T, DNAH5(NM_001369.3):c.12910-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13714631G>A" "" "benign" "" "0000267457" "0" "10" "5" "13701536" "13701536" "subst" "0.518866" "02325" "DNAH5_000011" "g.13701536T>C" "" "" "" "DNAH5(NM_001369.2):c.13348A>G (p.I4450V), DNAH5(NM_001369.3):c.13348A>G (p.I4450V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13701427T>C" "" "benign" "" "0000267458" "0" "10" "5" "13701525" "13701525" "subst" "0.504133" "02325" "DNAH5_000010" "g.13701525T>C" "" "" "" "DNAH5(NM_001369.2):c.13359A>G (p.T4453=), DNAH5(NM_001369.3):c.13359A>G (p.T4453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13701416T>C" "" "benign" "" "0000267459" "0" "50" "5" "13692193" "13692193" "subst" "0.000150823" "02325" "DNAH5_000004" "g.13692193C>T" "" "" "" "DNAH5(NM_001369.3):c.13775G>A (p.(Arg4592Gln), p.R4592Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13692084C>T" "" "VUS" "" "0000267460" "0" "10" "5" "13902220" "13902220" "subst" "0.397022" "02325" "DNAH5_000103" "g.13902220T>C" "" "" "" "DNAH5(NM_001369.2):c.1672A>G (p.T558A), DNAH5(NM_001369.3):c.1672A>G (p.T558A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13902111T>C" "" "benign" "" "0000267461" "0" "10" "5" "13931205" "13931205" "subst" "0.369146" "02325" "DNAH5_000114" "g.13931205G>C" "" "" "" "DNAH5(NM_001369.2):c.192+14C>G, DNAH5(NM_001369.3):c.192+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13931096G>C" "" "benign" "" "0000267462" "0" "10" "5" "13894894" "13894894" "subst" "0.501343" "02325" "DNAH5_000100" "g.13894894T>A" "" "" "" "DNAH5(NM_001369.2):c.2296A>T (p.I766L), DNAH5(NM_001369.3):c.2296A>T (p.I766L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13894785T>A" "" "benign" "" "0000267463" "0" "10" "5" "13845045" "13845045" "subst" "0.377336" "02325" "DNAH5_000068" "g.13845045G>A" "" "" "" "DNAH5(NM_001369.2):c.5172C>T (p.A1724=), DNAH5(NM_001369.3):c.5172C>T (p.A1724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13844936G>A" "" "benign" "" "0000267464" "0" "10" "5" "13829799" "13829799" "subst" "0.383134" "02325" "DNAH5_000060" "g.13829799G>A" "" "" "" "DNAH5(NM_001369.2):c.6264C>T (p.A2088=), DNAH5(NM_001369.3):c.6264C>T (p.A2088=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13829690G>A" "" "benign" "" "0000267465" "0" "10" "5" "13829608" "13829608" "subst" "0.383034" "02325" "DNAH5_000058" "g.13829608G>A" "" "" "" "DNAH5(NM_001369.2):c.6444+11C>T, DNAH5(NM_001369.3):c.6444+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13829499G>A" "" "benign" "" "0000267466" "0" "10" "5" "13931340" "13931340" "subst" "0.365501" "02325" "DNAH5_000116" "g.13931340C>T" "" "" "" "DNAH5(NM_001369.2):c.71G>A (p.G24E), DNAH5(NM_001369.3):c.71G>A (p.G24E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13931231C>T" "" "benign" "" "0000267467" "0" "10" "5" "13810149" "13810149" "subst" "0.392246" "02325" "DNAH5_000051" "g.13810149G>A" "" "" "" "DNAH5(NM_001369.2):c.7609+19C>T, DNAH5(NM_001369.3):c.7609+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13810040G>A" "" "benign" "" "0000267468" "0" "10" "5" "13788886" "13788886" "subst" "0.254244" "02325" "DNAH5_000049" "g.13788886C>A" "" "" "" "DNAH5(NM_001369.2):c.8586G>T (p.L2862F), DNAH5(NM_001369.3):c.8586G>T (p.L2862F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13788777C>A" "" "benign" "" "0000268700" "0" "70" "5" "13692239" "13692239" "subst" "0" "02329" "DNAH5_000006" "g.13692239G>A" "" "" "" "DNAH5(NM_001369.3):c.13729C>T (p.R4577*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13692130G>A" "" "likely pathogenic" "" "0000268701" "0" "50" "5" "13850914" "13850914" "subst" "0.00026406" "02329" "DNAH5_000073" "g.13850914C>T" "" "" "" "DNAH5(NM_001369.2):c.4961G>A (p.R1654Q, p.(Arg1654Gln)), DNAH5(NM_001369.3):c.4961G>A (p.R1654Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13850805C>T" "" "VUS" "" "0000268702" "0" "90" "5" "13841167" "13841167" "subst" "8.13259E-6" "02329" "DNAH5_000066" "g.13841167T>A" "" "" "" "DNAH5(NM_001369.3):c.5557A>T (p.K1853*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13841058T>A" "" "pathogenic" "" "0000268703" "0" "90" "5" "13776686" "13776686" "subst" "0" "02329" "DNAH5_000040" "g.13776686G>A" "" "" "" "DNAH5(NM_001369.3):c.9235C>T (p.R3079*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13776577G>A" "" "pathogenic" "" "0000270823" "0" "90" "5" "13735333" "13735333" "subst" "0" "02326" "DNAH5_000027" "g.13735333C>A" "" "" "" "DNAH5(NM_001369.2):c.11668G>T (p.E3890*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13735224C>A" "" "pathogenic" "" "0000270824" "0" "30" "5" "13886261" "13886263" "del" "0" "02326" "DNAH5_000095" "g.13886261_13886263del" "" "" "" "DNAH5(NM_001369.2):c.2578-10_2578-8del (p.(=)), DNAH5(NM_001369.2):c.2578-9_2578-7delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13886152_13886154del" "" "likely benign" "" "0000270825" "0" "10" "5" "13886263" "13886263" "del" "0" "02326" "DNAH5_000096" "g.13886263del" "" "" "" "DNAH5(NM_001369.2):c.2578-7delT, DNAH5(NM_001369.2):c.2578-9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13886154del" "" "benign" "" "0000275275" "0" "10" "5" "13762972" "13762972" "subst" "0.29964" "01943" "DNAH5_000038" "g.13762972T>C" "" "" "" "DNAH5(NM_001369.2):c.10140A>G (p.E3380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13762863T>C" "" "benign" "" "0000275276" "0" "10" "5" "13754394" "13754394" "subst" "0.348277" "01943" "DNAH5_000036" "g.13754394C>T" "" "" "" "DNAH5(NM_001369.2):c.10473G>A (p.T3491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13754285C>T" "" "benign" "" "0000275277" "0" "50" "5" "13751344" "13751344" "subst" "0" "01943" "DNAH5_000032" "g.13751344T>C" "" "" "" "DNAH5(NM_001369.2):c.11054A>G (p.D3685G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13751235T>C" "" "VUS" "" "0000275278" "0" "50" "5" "13751258" "13751258" "subst" "0.000154448" "01943" "DNAH5_000031" "g.13751258T>C" "" "" "" "DNAH5(NM_001369.2):c.11140A>G (p.I3714V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13751149T>C" "" "VUS" "" "0000275279" "0" "50" "5" "13751209" "13751209" "subst" "2.03285E-5" "01943" "DNAH5_000030" "g.13751209C>G" "" "" "" "DNAH5(NM_001369.2):c.11189G>C (p.R3730T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13751100C>G" "" "VUS" "" "0000275280" "0" "50" "5" "13737490" "13737490" "subst" "5.6862E-5" "01943" "DNAH5_000029" "g.13737490C>T" "" "" "" "DNAH5(NM_001369.2):c.11326G>A (p.V3776I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13737381C>T" "" "VUS" "" "0000275281" "0" "10" "5" "13737444" "13737444" "subst" "0.104926" "01943" "DNAH5_000028" "g.13737444G>A" "" "" "" "DNAH5(NM_001369.2):c.11372C>T (p.T3791I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13737335G>A" "" "benign" "" "0000275282" "0" "50" "5" "13914751" "13914751" "subst" "0.000843012" "01943" "DNAH5_000108" "g.13914751C>T" "" "" "" "DNAH5(NM_001369.2):c.1198G>A (p.V400M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13914642C>T" "" "VUS" "" "0000275283" "0" "10" "5" "13727609" "13727609" "subst" "0.00542978" "01943" "DNAH5_000023" "g.13727609T>C" "" "" "" "DNAH5(NM_001369.2):c.12033+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13727500T>C" "" "benign" "" "0000275284" "0" "10" "5" "13719089" "13719089" "subst" "0.424915" "01943" "DNAH5_000022" "g.13719089G>A" "" "" "" "DNAH5(NM_001369.2):c.12401C>T (p.A4134V), DNAH5(NM_001369.3):c.12401C>T (p.A4134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13718980G>A" "" "benign" "" "0000275285" "0" "10" "5" "13719022" "13719022" "subst" "0.414276" "01943" "DNAH5_000021" "g.13719022T>G" "" "" "" "DNAH5(NM_001369.2):c.12468A>C (p.G4156=), DNAH5(NM_001369.3):c.12468A>C (p.G4156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13718913T>G" "" "benign" "" "0000275286" "0" "50" "5" "13717555" "13717555" "subst" "8.14405E-6" "01943" "DNAH5_000019" "g.13717555G>A" "" "" "" "DNAH5(NM_001369.2):c.12574C>T (p.H4192Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13717446G>A" "" "VUS" "" "0000275287" "0" "10" "5" "13717471" "13717471" "subst" "0.148571" "01943" "DNAH5_000018" "g.13717471T>C" "" "" "" "DNAH5(NM_001369.2):c.12658A>G (p.T4220A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13717362T>C" "" "benign" "" "0000275288" "0" "10" "5" "13714740" "13714740" "subst" "0.411596" "01943" "DNAH5_000015" "g.13714740G>A" "" "" "" "DNAH5(NM_001369.2):c.12910-11C>T, DNAH5(NM_001369.3):c.12910-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13714631G>A" "" "benign" "" "0000275289" "0" "10" "5" "13714568" "13714568" "subst" "0.00500081" "01943" "DNAH5_000014" "g.13714568G>A" "" "" "" "DNAH5(NM_001369.2):c.13071C>T (p.A4357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13714459G>A" "" "benign" "" "0000275290" "0" "10" "5" "13708216" "13708216" "subst" "0.00242795" "01943" "DNAH5_000012" "g.13708216G>A" "" "" "" "DNAH5(NM_001369.2):c.13338+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13708107G>A" "" "benign" "" "0000275291" "0" "10" "5" "13701536" "13701536" "subst" "0.518866" "01943" "DNAH5_000011" "g.13701536T>C" "" "" "" "DNAH5(NM_001369.2):c.13348A>G (p.I4450V), DNAH5(NM_001369.3):c.13348A>G (p.I4450V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13701427T>C" "" "benign" "" "0000275292" "0" "10" "5" "13701525" "13701525" "subst" "0.504133" "01943" "DNAH5_000010" "g.13701525T>C" "" "" "" "DNAH5(NM_001369.2):c.13359A>G (p.T4453=), DNAH5(NM_001369.3):c.13359A>G (p.T4453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13701416T>C" "" "benign" "" "0000275293" "0" "10" "5" "13701422" "13701422" "subst" "0.00929688" "01943" "DNAH5_000009" "g.13701422G>T" "" "" "" "DNAH5(NM_001369.2):c.13462C>A (p.P4488T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13701313G>T" "" "benign" "" "0000275294" "0" "90" "5" "13701398" "13701398" "subst" "5.28455E-5" "01943" "DNAH5_000007" "g.13701398G>A" "" "" "" "DNAH5(NM_001369.2):c.13486C>T (p.R4496*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13701289G>A" "" "pathogenic" "" "0000275295" "0" "50" "5" "13913955" "13913955" "subst" "3.66029E-5" "01943" "DNAH5_000106" "g.13913955C>T" "" "" "" "DNAH5(NM_001369.2):c.1433G>A (p.R478Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13913846C>T" "" "VUS" "" "0000275296" "0" "10" "5" "13902220" "13902220" "subst" "0.397022" "01943" "DNAH5_000103" "g.13902220T>C" "" "" "" "DNAH5(NM_001369.2):c.1672A>G (p.T558A), DNAH5(NM_001369.3):c.1672A>G (p.T558A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13902111T>C" "" "benign" "" "0000275297" "0" "10" "5" "13931205" "13931205" "subst" "0.369146" "01943" "DNAH5_000114" "g.13931205G>C" "" "" "" "DNAH5(NM_001369.2):c.192+14C>G, DNAH5(NM_001369.3):c.192+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13931096G>C" "" "benign" "" "0000275298" "0" "30" "5" "13900321" "13900321" "subst" "0.00987779" "01943" "DNAH5_000002" "g.13900321G>T" "" "" "" "DNAH5(NM_001369.2):c.2253C>A (p.N751K, p.(Asn751Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13900212G>T" "" "likely benign" "" "0000275299" "0" "10" "5" "13894894" "13894894" "subst" "0.501343" "01943" "DNAH5_000100" "g.13894894T>A" "" "" "" "DNAH5(NM_001369.2):c.2296A>T (p.I766L), DNAH5(NM_001369.3):c.2296A>T (p.I766L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13894785T>A" "" "benign" "" "0000275300" "0" "30" "5" "13894822" "13894822" "subst" "2.43928E-5" "01943" "DNAH5_000099" "g.13894822C>T" "" "" "" "DNAH5(NM_001369.2):c.2368G>A (p.A790T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13894713C>T" "" "likely benign" "" "0000275301" "0" "30" "5" "13894790" "13894790" "subst" "0.000296787" "01943" "DNAH5_000098" "g.13894790C>T" "" "" "" "DNAH5(NM_001369.2):c.2400G>A (p.E800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13894681C>T" "" "likely benign" "" "0000275302" "0" "10" "5" "13886262" "13886263" "del" "0" "01943" "DNAH5_000092" "g.13886262_13886263del" "" "" "" "DNAH5(NM_001369.2):c.2578-8_2578-7del (p.(=)), DNAH5(NM_001369.2):c.2578-8_2578-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13886153_13886154del" "" "benign" "" "0000275304" "0" "10" "5" "13886133" "13886133" "subst" "0.00407169" "01943" "DNAH5_000089" "g.13886133C>T" "" "" "" "DNAH5(NM_001369.2):c.2683G>A (p.E895K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13886024C>T" "" "benign" "" "0000275305" "0" "30" "5" "13883174" "13883174" "subst" "4.88587E-5" "01943" "DNAH5_000088" "g.13883174T>A" "" "" "" "DNAH5(NM_001369.2):c.3013A>T (p.N1005Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13883065T>A" "" "likely benign" "" "0000275306" "0" "10" "5" "13882858" "13882858" "subst" "0.00356864" "01943" "DNAH5_000086" "g.13882858T>C" "" "" "" "DNAH5(NM_001369.2):c.3241A>G (p.M1081V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13882749T>C" "" "benign" "" "0000275307" "0" "30" "5" "13871757" "13871757" "subst" "0.002278" "01943" "DNAH5_000084" "g.13871757G>T" "" "" "" "DNAH5(NM_001369.2):c.3514C>A (p.Q1172K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13871648G>T" "" "likely benign" "" "0000275308" "0" "30" "5" "13870935" "13870935" "subst" "0.000284731" "01943" "DNAH5_000082" "g.13870935C>T" "" "" "" "DNAH5(NM_001369.2):c.3775G>A (p.A1259T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13870826C>T" "" "likely benign" "" "0000275309" "0" "30" "5" "13867949" "13867949" "subst" "0.0109402" "01943" "DNAH5_000080" "g.13867949T>C" "" "" "" "DNAH5(NM_001369.2):c.3987A>G (p.K1329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13867840T>C" "" "likely benign" "" "0000275310" "0" "10" "5" "13865980" "13865980" "subst" "0.451004" "01943" "DNAH5_000078" "g.13865980T>C" "" "" "" "DNAH5(NM_001369.2):c.4152A>G (p.T1384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13865871T>C" "" "benign" "" "0000275311" "0" "10" "5" "13864728" "13864728" "subst" "0.403922" "01943" "DNAH5_000077" "g.13864728C>A" "" "" "" "DNAH5(NM_001369.2):c.4374G>T (p.R1458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13864619C>A" "" "benign" "" "0000275312" "0" "10" "5" "13864671" "13864671" "subst" "0.00532347" "01943" "DNAH5_000076" "g.13864671G>A" "" "" "" "DNAH5(NM_001369.2):c.4431C>T (p.S1477=), DNAH5(NM_001369.3):c.4431C>T (p.(Ser1477=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13864562G>A" "" "benign" "" "0000275313" "0" "30" "5" "13864593" "13864593" "subst" "0.00145057" "01943" "DNAH5_000075" "g.13864593G>A" "" "" "" "DNAH5(NM_001369.2):c.4509C>T (p.T1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13864484G>A" "" "likely benign" "" "0000275314" "0" "50" "5" "13850914" "13850914" "subst" "0.00026406" "01943" "DNAH5_000073" "g.13850914C>T" "" "" "" "DNAH5(NM_001369.2):c.4961G>A (p.R1654Q, p.(Arg1654Gln)), DNAH5(NM_001369.3):c.4961G>A (p.R1654Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13850805C>T" "" "VUS" "" "0000275315" "0" "30" "5" "13845106" "13845106" "subst" "8.13557E-5" "01943" "DNAH5_000069" "g.13845106C>T" "" "" "" "DNAH5(NM_001369.2):c.5115-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13844997C>T" "" "likely benign" "" "0000275316" "0" "30" "5" "13845106" "13845107" "inv" "0" "01943" "DNAH5_000070" "g.13845106_13845107inv" "" "" "" "DNAH5(NM_001369.2):c.5115-5_5115-4delTGinsCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13844997_13844998inv" "" "likely benign" "" "0000275317" "0" "10" "5" "13845045" "13845045" "subst" "0.377336" "01943" "DNAH5_000068" "g.13845045G>A" "" "" "" "DNAH5(NM_001369.2):c.5172C>T (p.A1724=), DNAH5(NM_001369.3):c.5172C>T (p.A1724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13844936G>A" "" "benign" "" "0000275318" "0" "50" "5" "13841872" "13841872" "subst" "8.94222E-5" "01943" "DNAH5_000067" "g.13841872G>A" "" "" "" "DNAH5(NM_001369.2):c.5413C>T (p.R1805C), DNAH5(NM_001369.3):c.5413C>T (p.(Arg1805Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13841763G>A" "" "VUS" "" "0000275319" "0" "10" "5" "13841066" "13841066" "subst" "0.00329316" "01943" "DNAH5_000065" "g.13841066G>A" "" "" "" "DNAH5(NM_001369.2):c.5658C>T (p.Y1886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13840957G>A" "" "benign" "" "0000275320" "0" "30" "5" "13922302" "13922302" "subst" "0.000174932" "01943" "DNAH5_000113" "g.13922302C>T" "" "" "" "DNAH5(NM_001369.2):c.574G>A (p.A192T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13922193C>T" "" "likely benign" "" "0000275321" "0" "10" "5" "13839459" "13839459" "subst" "0.000430789" "01943" "DNAH5_000064" "g.13839459C>T" "" "" "" "DNAH5(NM_001369.2):c.5882+6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13839350C>T" "" "benign" "" "0000275322" "0" "10" "5" "13830696" "13830696" "subst" "0.0022357" "01943" "DNAH5_000063" "g.13830696T>C" "" "" "" "DNAH5(NM_001369.2):c.6061+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13830587T>C" "" "benign" "" "0000275323" "0" "30" "5" "13830326" "13830326" "subst" "0.00114483" "01943" "DNAH5_000062" "g.13830326C>T" "" "" "" "DNAH5(NM_001369.2):c.6062-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13830217C>T" "" "likely benign" "" "0000275324" "0" "50" "5" "13830156" "13830156" "subst" "0" "01943" "DNAH5_000061" "g.13830156T>C" "" "" "" "DNAH5(NM_001369.2):c.6228A>G (p.E2076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13830047T>C" "" "VUS" "" "0000275325" "0" "30" "5" "13922252" "13922252" "subst" "0.00261593" "01943" "DNAH5_000112" "g.13922252G>A" "" "" "" "DNAH5(NM_001369.2):c.624C>T (p.N208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13922143G>A" "" "likely benign" "" "0000275326" "0" "10" "5" "13829799" "13829799" "subst" "0.383134" "01943" "DNAH5_000060" "g.13829799G>A" "" "" "" "DNAH5(NM_001369.2):c.6264C>T (p.A2088=), DNAH5(NM_001369.3):c.6264C>T (p.A2088=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13829690G>A" "" "benign" "" "0000275327" "0" "10" "5" "13829608" "13829608" "subst" "0.383034" "01943" "DNAH5_000058" "g.13829608G>A" "" "" "" "DNAH5(NM_001369.2):c.6444+11C>T, DNAH5(NM_001369.3):c.6444+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13829499G>A" "" "benign" "" "0000275328" "0" "10" "5" "13829611" "13829611" "subst" "0.00664943" "01943" "DNAH5_000059" "g.13829611T>C" "" "" "" "DNAH5(NM_001369.2):c.6444+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13829502T>C" "" "benign" "" "0000275329" "0" "10" "5" "13824302" "13824302" "subst" "0.00187391" "01943" "DNAH5_000057" "g.13824302T>C" "" "" "" "DNAH5(NM_001369.2):c.6579+6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13824193T>C" "" "benign" "" "0000275330" "0" "50" "5" "13820548" "13820548" "subst" "0.000101562" "01943" "DNAH5_000056" "g.13820548C>T" "" "" "" "DNAH5(NM_001369.2):c.6748G>A (p.E2250K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13820439C>T" "" "VUS" "" "0000275331" "0" "10" "5" "13931340" "13931340" "subst" "0.365501" "01943" "DNAH5_000116" "g.13931340C>T" "" "" "" "DNAH5(NM_001369.2):c.71G>A (p.G24E), DNAH5(NM_001369.3):c.71G>A (p.G24E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13931231C>T" "" "benign" "" "0000275332" "0" "10" "5" "13811889" "13811889" "subst" "0.00613347" "01943" "DNAH5_000054" "g.13811889C>T" "" "" "" "DNAH5(NM_001369.2):c.7274G>A (p.R2425H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13811780C>T" "" "benign" "" "0000275333" "0" "30" "5" "13920660" "13920660" "subst" "4.8765E-5" "01943" "DNAH5_000111" "g.13920660G>C" "" "" "" "DNAH5(NM_001369.2):c.727C>G (p.L243V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13920551G>C" "" "likely benign" "" "0000275334" "0" "10" "5" "13810149" "13810149" "subst" "0.392246" "01943" "DNAH5_000051" "g.13810149G>A" "" "" "" "DNAH5(NM_001369.2):c.7609+19C>T, DNAH5(NM_001369.3):c.7609+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13810040G>A" "" "benign" "" "0000275335" "0" "10" "5" "13788886" "13788886" "subst" "0.254244" "01943" "DNAH5_000049" "g.13788886C>A" "" "" "" "DNAH5(NM_001369.2):c.8586G>T (p.L2862F), DNAH5(NM_001369.3):c.8586G>T (p.L2862F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13788777C>A" "" "benign" "" "0000275336" "0" "50" "5" "13786303" "13786303" "subst" "0.00052116" "01943" "DNAH5_000047" "g.13786303C>G" "" "" "" "DNAH5(NM_001369.2):c.8805G>C (p.M2935I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13786194C>G" "" "VUS" "" "0000275337" "0" "30" "5" "13781084" "13781084" "subst" "1.63071E-5" "01943" "DNAH5_000046" "g.13781084G>A" "" "" "" "DNAH5(NM_001369.2):c.8821-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13780975G>A" "" "likely benign" "" "0000275338" "0" "10" "5" "13780991" "13780991" "subst" "0.0243962" "01943" "DNAH5_000044" "g.13780991C>T" "" "" "" "DNAH5(NM_001369.2):c.8898G>A (p.T2966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13780882C>T" "" "benign" "" "0000275339" "0" "50" "5" "13780953" "13780953" "subst" "0.000358309" "01943" "DNAH5_000043" "g.13780953T>C" "" "" "" "DNAH5(NM_001369.2):c.8936A>G (p.Q2979R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13780844T>C" "" "VUS" "" "0000275340" "0" "50" "5" "13776718" "13776718" "subst" "0.000142567" "01943" "DNAH5_000041" "g.13776718T>C" "" "" "" "DNAH5(NM_001369.2):c.9203A>G (p.E3068G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13776609T>C" "" "VUS" "" "0000275341" "0" "10" "5" "13770941" "13770941" "subst" "0.00606255" "01943" "DNAH5_000039" "g.13770941C>T" "" "" "" "DNAH5(NM_001369.2):c.9522G>A (p.T3174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13770832C>T" "" "benign" "" "0000330262" "0" "50" "5" "13692202" "13692202" "subst" "0" "01804" "DNAH5_000005" "g.13692202T>C" "" "" "" "DNAH5(NM_001369.2):c.13766A>G (p.(Lys4589Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13692093T>C" "" "VUS" "" "0000330265" "0" "30" "5" "13717606" "13717606" "subst" "0.000310022" "01804" "DNAH5_000020" "g.13717606C>T" "" "" "" "DNAH5(NM_001369.2):c.12523G>A (p.(Val4175Met)), DNAH5(NM_001369.3):c.12523G>A (p.V4175M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13717497C>T" "" "likely benign" "" "0000330266" "0" "50" "5" "13727635" "13727635" "subst" "0" "01804" "DNAH5_000024" "g.13727635G>C" "" "" "" "DNAH5(NM_001369.2):c.12014C>G (p.(Pro4005Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13727526G>C" "" "VUS" "" "0000330267" "0" "50" "5" "13727663" "13727663" "subst" "4.06342E-6" "01804" "DNAH5_000025" "g.13727663G>A" "" "" "" "DNAH5(NM_001369.2):c.11986C>T (p.(Arg3996Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13727554G>A" "" "VUS" "" "0000330268" "0" "50" "5" "13736021" "13736021" "subst" "0.000329563" "01804" "DNAH5_000001" "g.13736021G>A" "" "" "" "DNAH5(NM_001369.2):c.11476C>T (p.L3826F, p.(Leu3826Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13735912G>A" "" "VUS" "" "0000330269" "0" "50" "5" "13752391" "13752391" "subst" "0" "01804" "DNAH5_000033" "g.13752391G>A" "" "" "" "DNAH5(NM_001369.2):c.10880C>T (p.(Ser3627Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13752282G>A" "" "VUS" "" "0000330270" "0" "50" "5" "13753399" "13753399" "del" "0.000162831" "01804" "DNAH5_000034" "g.13753399del" "" "" "" "DNAH5(NM_001369.2):c.10815delT (p.(Pro3606HisfsTer23)), DNAH5(NM_001369.2):c.10815delT (p.P3606Hfs*23), DNAH5(NM_001369.3):c.10815delT (p.P3606Hfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753290del" "" "VUS" "" "0000330271" "0" "50" "5" "13753557" "13753557" "subst" "0.000105762" "01804" "DNAH5_000035" "g.13753557G>A" "" "" "" "DNAH5(NM_001369.2):c.10657C>T (p.(Arg3553Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753448G>A" "" "VUS" "" "0000330272" "0" "10" "5" "13754410" "13754410" "subst" "0.00530984" "01804" "DNAH5_000037" "g.13754410A>G" "" "" "" "DNAH5(NM_001369.2):c.10457T>C (p.(Met3486Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13754301A>G" "" "benign" "" "0000330273" "0" "50" "5" "13777417" "13777417" "subst" "0.000224069" "01804" "DNAH5_000042" "g.13777417C>T" "" "" "" "DNAH5(NM_001369.2):c.8999G>A (p.(Arg3000Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13777308C>T" "" "VUS" "" "0000330274" "0" "50" "5" "13781047" "13781047" "subst" "0.000390733" "01804" "DNAH5_000045" "g.13781047G>A" "" "" "" "DNAH5(NM_001369.2):c.8842C>T (p.(Pro2948Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13780938G>A" "" "VUS" "" "0000330275" "0" "30" "5" "13786351" "13786351" "subst" "0.00313362" "01804" "DNAH5_000048" "g.13786351C>G" "" "" "" "DNAH5(NM_001369.2):c.8757G>C (p.(Glu2919Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13786242C>G" "" "likely benign" "" "0000330276" "0" "50" "5" "13810246" "13810246" "subst" "0.000112309" "01804" "DNAH5_000052" "g.13810246G>A" "" "" "" "DNAH5(NM_001369.2):c.7531C>T (p.(Arg2511Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13810137G>A" "" "VUS" "" "0000330278" "0" "50" "5" "13850914" "13850914" "subst" "0.00026406" "01804" "DNAH5_000073" "g.13850914C>T" "" "" "" "DNAH5(NM_001369.2):c.4961G>A (p.R1654Q, p.(Arg1654Gln)), DNAH5(NM_001369.3):c.4961G>A (p.R1654Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13850805C>T" "" "VUS" "" "0000330279" "0" "50" "5" "13864592" "13864592" "subst" "0.000670361" "01804" "DNAH5_000074" "g.13864592C>G" "" "" "" "DNAH5(NM_001369.2):c.4510G>C (p.(Gly1504Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13864483C>G" "" "VUS" "" "0000330280" "0" "50" "5" "13867920" "13867920" "subst" "0.000292909" "01804" "DNAH5_000079" "g.13867920A>C" "" "" "" "DNAH5(NM_001369.2):c.4016T>G (p.(Leu1339Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13867811A>C" "" "VUS" "" "0000330283" "0" "30" "5" "13886244" "13886246" "del" "0" "01804" "DNAH5_000090" "g.13886244_13886246del" "" "" "" "DNAH5(NM_001369.2):c.2578-8_2578-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13886135_13886137del" "" "likely benign" "" "0000330284" "0" "30" "5" "13886260" "13886263" "del" "0" "01804" "DNAH5_000093" "g.13886260_13886263del" "" "" "" "DNAH5(NM_001369.2):c.2578-10_2578-7del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13886151_13886154del" "" "likely benign" "" "0000330285" "0" "30" "5" "13900321" "13900321" "subst" "0.00987779" "01804" "DNAH5_000002" "g.13900321G>T" "" "" "" "DNAH5(NM_001369.2):c.2253C>A (p.N751K, p.(Asn751Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13900212G>T" "" "likely benign" "" "0000330286" "0" "50" "5" "13902225" "13902225" "subst" "0" "01804" "DNAH5_000104" "g.13902225T>C" "" "" "" "DNAH5(NM_001369.2):c.1667A>G (p.D556G, p.(Asp556Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13902116T>C" "" "VUS" "" "0000330287" "0" "30" "5" "13914743" "13914743" "subst" "0.0015835" "01804" "DNAH5_000107" "g.13914743A>T" "" "" "" "DNAH5(NM_001369.2):c.1206T>A (p.N402K, p.(Asn402Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13914634A>T" "" "likely benign" "" "0000330288" "0" "50" "5" "13917360" "13917360" "subst" "0" "01804" "DNAH5_000110" "g.13917360C>A" "" "" "" "DNAH5(NM_001369.2):c.981G>T (p.(Trp327Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13917251C>A" "" "VUS" "" "0000330289" "0" "50" "5" "13931295" "13931295" "subst" "0" "01804" "DNAH5_000115" "g.13931295T>C" "" "" "" "DNAH5(NM_001369.3):c.116A>G (p.(Tyr39Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13931186T>C" "" "VUS" "" "0000344615" "0" "90" "5" "13841221" "13841221" "subst" "1.22202E-5" "02327" "DNAH5_000119" "g.13841221G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13841112G>A" "" "pathogenic" "" "0000345600" "0" "50" "5" "13885212" "13885212" "subst" "1.62512E-5" "02327" "DNAH5_000120" "g.13885212C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13885103C>T" "" "VUS" "" "0000408300" "3" "70" "5" "13771091" "13771091" "subst" "0" "02596" "DNAH5_000121" "g.13771091T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13770982T>C" "" "likely pathogenic" "" "0000408301" "3" "70" "5" "13769089" "13769089" "subst" "0" "02596" "DNAH5_000122" "g.13769089C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13768980C>A" "" "likely pathogenic" "" "0000524237" "0" "50" "5" "13700776" "13700776" "subst" "7.32023E-5" "01804" "DNAH5_000126" "g.13700776C>G" "" "" "" "DNAH5(NM_001369.3):c.13696G>C (p.(Val4566Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13700667C>G" "" "VUS" "" "0000524240" "0" "90" "5" "13701491" "13701492" "ins" "0" "02329" "DNAH5_000127" "g.13701491_13701492insCTGGT" "" "" "" "DNAH5(NM_001369.3):c.13393_13394insCCAGA (p.N4465Tfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13701382_13701383insCTGGT" "" "pathogenic" "" "0000524242" "0" "30" "5" "13708284" "13708284" "subst" "0.00485993" "01804" "DNAH5_000128" "g.13708284C>T" "" "" "" "DNAH5(NM_001369.2):c.13286G>A (p.(Arg4429Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13708175C>T" "" "likely benign" "" "0000524243" "0" "50" "5" "13714681" "13714681" "subst" "1.62607E-5" "01943" "DNAH5_000129" "g.13714681C>T" "" "" "" "DNAH5(NM_001369.2):c.12958G>A (p.A4320T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13714572C>T" "" "VUS" "" "0000524244" "0" "30" "5" "13716627" "13716627" "subst" "0.000101684" "01804" "DNAH5_000130" "g.13716627C>T" "" "" "" "DNAH5(NM_001369.2):c.12878G>A (p.(Ser4293Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13716518C>T" "" "likely benign" "" "0000524247" "0" "30" "5" "13719018" "13719018" "subst" "0.00441568" "01804" "DNAH5_000132" "g.13719018G>A" "" "" "" "DNAH5(NM_001369.2):c.12472C>T (p.(Arg4158Trp)), DNAH5(NM_001369.3):c.12472C>T (p.R4158W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13718909G>A" "" "likely benign" "" "0000524248" "0" "50" "5" "13719077" "13719077" "subst" "5.69597E-5" "01804" "DNAH5_000133" "g.13719077A>C" "" "" "" "DNAH5(NM_001369.3):c.12413T>G (p.(Phe4138Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13718968A>C" "" "VUS" "" "0000524249" "0" "30" "5" "13719141" "13719141" "subst" "0.000142537" "01804" "DNAH5_000134" "g.13719141T>C" "" "" "" "DNAH5(NM_001369.2):c.12349A>G (p.(Ile4117Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13719032T>C" "" "likely benign" "" "0000524250" "0" "10" "5" "13719227" "13719227" "subst" "0.00214914" "01943" "DNAH5_000135" "g.13719227A>G" "" "" "" "DNAH5(NM_001369.2):c.12280-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13719118A>G" "" "benign" "" "0000524253" "0" "50" "5" "13721137" "13721137" "subst" "0.000121986" "01943" "DNAH5_000136" "g.13721137C>T" "" "" "" "DNAH5(NM_001369.2):c.12251G>A (p.R4084Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13721028C>T" "" "VUS" "" "0000524262" "0" "30" "5" "13727609" "13727609" "subst" "0.00542978" "01804" "DNAH5_000023" "g.13727609T>C" "" "" "" "DNAH5(NM_001369.2):c.12033+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13727500T>C" "" "likely benign" "" "0000524266" "0" "50" "5" "13736033" "13736033" "subst" "1.62795E-5" "02325" "DNAH5_000137" "g.13736033G>A" "" "" "" "DNAH5(NM_001369.3):c.11464C>T (p.R3822W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13735924G>A" "" "VUS" "" "0000524267" "0" "30" "5" "13737379" "13737379" "subst" "0.00120735" "01804" "DNAH5_000138" "g.13737379G>A" "" "" "" "DNAH5(NM_001369.2):c.11437C>T (p.(Arg3813Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13737270G>A" "" "likely benign" "" "0000524282" "0" "90" "5" "13753399" "13753399" "del" "0.000162831" "01943" "DNAH5_000034" "g.13753399del" "" "" "" "DNAH5(NM_001369.2):c.10815delT (p.(Pro3606HisfsTer23)), DNAH5(NM_001369.2):c.10815delT (p.P3606Hfs*23), DNAH5(NM_001369.3):c.10815delT (p.P3606Hfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13753290del" "" "pathogenic" "" "0000524283" "0" "90" "5" "13753399" "13753399" "del" "0.000162831" "02327" "DNAH5_000034" "g.13753399del" "" "" "" "DNAH5(NM_001369.2):c.10815delT (p.(Pro3606HisfsTer23)), DNAH5(NM_001369.2):c.10815delT (p.P3606Hfs*23), DNAH5(NM_001369.3):c.10815delT (p.P3606Hfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13753290del" "" "pathogenic" "" "0000524284" "0" "50" "5" "13753568" "13753568" "subst" "6.91737E-5" "01804" "DNAH5_000139" "g.13753568T>C" "" "" "" "DNAH5(NM_001369.3):c.10646A>G (p.(Glu3549Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13753459T>C" "" "VUS" "" "0000524285" "0" "30" "5" "13753575" "13753575" "subst" "5.29312E-5" "01804" "DNAH5_000140" "g.13753575G>A" "" "" "" "DNAH5(NM_001369.2):c.10639C>T (p.R3547W, p.(Arg3547Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13753466G>A" "" "likely benign" "" "0000524286" "0" "50" "5" "13753599" "13753599" "subst" "1.63051E-5" "01804" "DNAH5_000141" "g.13753599G>A" "" "" "" "DNAH5(NM_001369.2):c.10615C>T (p.(Arg3539Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13753490G>A" "" "VUS" "" "0000524289" "0" "50" "5" "13754416" "13754416" "subst" "4.47617E-5" "01943" "DNAH5_000144" "g.13754416T>A" "" "" "" "DNAH5(NM_001369.2):c.10451A>T (p.H3484L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13754307T>A" "" "VUS" "" "0000524290" "0" "90" "5" "13758990" "13758990" "subst" "5.2895E-5" "01804" "DNAH5_000145" "g.13758990G>A" "" "" "" "DNAH5(NM_001369.2):c.10384C>T (p.(Gln3462*)), DNAH5(NM_001369.3):c.10384C>T (p.Q3462*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13758881G>A" "" "pathogenic" "" "0000524291" "0" "50" "5" "13762923" "13762923" "subst" "4.06679E-6" "01804" "DNAH5_000146" "g.13762923T>A" "" "" "" "DNAH5(NM_001369.2):c.10189A>T (p.(Lys3397Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13762814T>A" "" "VUS" "" "0000524293" "0" "90" "5" "13769188" "13769188" "subst" "0" "01943" "DNAH5_000148" "g.13769188G>A" "" "" "" "DNAH5(NM_001369.2):c.9778C>T (p.Q3260*), DNAH5(NM_001369.3):c.9778C>T (p.Q3260*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13769079G>A" "" "pathogenic" "" "0000524294" "0" "10" "5" "13769257" "13769257" "subst" "0.339403" "01943" "DNAH5_000149" "g.13769257T>A" "" "" "" "DNAH5(NM_001369.2):c.9721-12A>T, DNAH5(NM_001369.3):c.9721-12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13769148T>A" "" "benign" "" "0000524295" "0" "10" "5" "13769257" "13769257" "subst" "0.339403" "02325" "DNAH5_000149" "g.13769257T>A" "" "" "" "DNAH5(NM_001369.2):c.9721-12A>T, DNAH5(NM_001369.3):c.9721-12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13769148T>A" "" "benign" "" "0000524296" "0" "30" "5" "13769649" "13769649" "subst" "0.000707076" "01943" "DNAH5_000150" "g.13769649T>C" "" "" "" "DNAH5(NM_001369.2):c.9681A>G (p.K3227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13769540T>C" "" "likely benign" "" "0000524297" "0" "30" "5" "13770873" "13770873" "subst" "0.000545789" "01804" "DNAH5_000151" "g.13770873C>T" "" "" "" "DNAH5(NM_001369.2):c.9590G>A (p.(Arg3197Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13770764C>T" "" "likely benign" "" "0000524305" "0" "50" "5" "13781047" "13781049" "del" "0" "01804" "DNAH5_000155" "g.13781047_13781049del" "" "" "" "DNAH5(NM_001369.2):c.8843_8845del (p.(Pro2948del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13780938_13780940del" "" "VUS" "" "0000524306" "0" "50" "5" "13781061" "13781061" "subst" "5.70037E-5" "01943" "DNAH5_000156" "g.13781061C>T" "" "" "" "DNAH5(NM_001369.2):c.8828G>A (p.R2943H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13780952C>T" "" "VUS" "" "0000524309" "0" "50" "5" "13793707" "13793707" "subst" "4.06194E-6" "02325" "DNAH5_000159" "g.13793707T>C" "" "" "" "DNAH5(NM_001369.3):c.8141A>G (p.N2714S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13793598T>C" "" "VUS" "" "0000524310" "0" "50" "5" "13794030" "13794030" "subst" "2.44716E-5" "01943" "DNAH5_000160" "g.13794030A>C" "" "" "" "DNAH5(NM_001369.2):c.8010+15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13793921A>C" "" "VUS" "" "0000524311" "0" "30" "5" "13794057" "13794057" "subst" "0.00121325" "01804" "DNAH5_000161" "g.13794057C>A" "" "" "" "DNAH5(NM_001369.2):c.7998G>T (p.(Glu2666Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13793948C>A" "" "likely benign" "" "0000524313" "0" "50" "5" "13794112" "13794112" "subst" "6.50915E-5" "02325" "DNAH5_000163" "g.13794112G>A" "" "" "" "DNAH5(NM_001369.3):c.7943C>T (p.A2648V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13794003G>A" "" "VUS" "" "0000524314" "0" "30" "5" "13794171" "13794171" "subst" "1.22068E-5" "01943" "DNAH5_000164" "g.13794171T>C" "" "" "" "DNAH5(NM_001369.2):c.7888-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13794062T>C" "" "likely benign" "" "0000524315" "0" "10" "5" "13811775" "13811775" "subst" "0.213411" "01943" "DNAH5_000165" "g.13811775T>C" "" "" "" "DNAH5(NM_001369.2):c.7388A>G (p.Q2463R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13811666T>C" "" "benign" "" "0000524324" "0" "30" "5" "13817726" "13817726" "subst" "0.00181515" "01804" "DNAH5_000166" "g.13817726C>T" "" "" "" "DNAH5(NM_001369.2):c.6919G>A (p.(Val2307Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13817617C>T" "" "likely benign" "" "0000524338" "0" "30" "5" "13829615" "13829615" "subst" "8.12843E-6" "01804" "DNAH5_000167" "g.13829615A>G" "" "" "" "DNAH5(NM_001369.2):c.6444+4T>C (p.?), DNAH5(NM_001369.3):c.6444+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13829506A>G" "" "likely benign" "" "0000524339" "0" "70" "5" "13829619" "13829619" "subst" "1.21911E-5" "02329" "DNAH5_000168" "g.13829619C>T" "" "" "" "DNAH5(NM_001369.3):c.6444G>A (p.Q2148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13829510C>T" "" "likely pathogenic" "" "0000524341" "0" "30" "5" "13830217" "13830217" "subst" "0.00071148" "01804" "DNAH5_000170" "g.13830217T>A" "" "" "" "DNAH5(NM_001369.2):c.6167A>T (p.K2056I, p.(Lys2056Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13830108T>A" "" "likely benign" "" "0000524342" "0" "90" "5" "13830300" "13830300" "subst" "0" "01943" "DNAH5_000171" "g.13830300C>T" "" "" "" "DNAH5(NM_001369.2):c.6084G>A (p.W2028*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13830191C>T" "" "pathogenic" "" "0000524347" "0" "30" "5" "13839459" "13839459" "subst" "0.000430789" "01804" "DNAH5_000064" "g.13839459C>T" "" "" "" "DNAH5(NM_001369.2):c.5882+6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13839350C>T" "" "likely benign" "" "0000524348" "0" "90" "5" "13841077" "13841077" "subst" "2.84557E-5" "02327" "DNAH5_000173" "g.13841077G>A" "" "" "" "DNAH5(NM_001369.3):c.5647C>T (p.R1883*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13840968G>A" "" "pathogenic" "" "0000524349" "0" "90" "5" "13841229" "13841229" "subst" "0" "02329" "DNAH5_000174" "g.13841229A>T" "" "" "" "DNAH5(NM_001369.3):c.5495T>A (p.L1832*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13841120A>T" "" "pathogenic" "" "0000524351" "0" "30" "5" "13842020" "13842020" "subst" "0" "01804" "DNAH5_000176" "g.13842020T>A" "" "" "" "DNAH5(NM_001369.2):c.5272-7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13841911T>A" "" "likely benign" "" "0000524352" "0" "30" "5" "13842020" "13842020" "del" "0" "01804" "DNAH5_000177" "g.13842020del" "" "" "" "DNAH5(NM_001369.2):c.5272-6delA (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13841911del" "" "likely benign" "" "0000524353" "0" "30" "5" "13844951" "13844951" "subst" "0.00253395" "01804" "DNAH5_000178" "g.13844951C>T" "" "" "" "DNAH5(NM_001369.2):c.5266G>A (p.(Glu1756Lys)), DNAH5(NM_001369.3):c.5266G>A (p.E1756K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13844842C>T" "" "likely benign" "" "0000524356" "0" "50" "5" "13850780" "13850780" "subst" "0" "01804" "DNAH5_000180" "g.13850780A>T" "" "" "" "DNAH5(NM_001369.2):c.5095T>A (p.(Cys1699Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13850671A>T" "" "VUS" "" "0000524357" "0" "50" "5" "13850872" "13850872" "subst" "4.06299E-6" "01943" "DNAH5_000181" "g.13850872C>T" "" "" "" "DNAH5(NM_001369.2):c.5003G>A (p.R1668Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13850763C>T" "" "VUS" "" "0000524360" "0" "50" "5" "13859644" "13859644" "subst" "4.46806E-5" "02325" "DNAH5_000183" "g.13859644C>T" "" "" "" "DNAH5(NM_001369.3):c.4867G>A (p.E1623K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13859535C>T" "" "VUS" "" "0000524361" "0" "30" "5" "13864729" "13864729" "subst" "0.000792438" "01804" "DNAH5_000184" "g.13864729C>T" "" "" "" "DNAH5(NM_001369.2):c.4373G>A (p.R1458Q, p.(Arg1458Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13864620C>T" "" "likely benign" "" "0000524366" "0" "50" "5" "13865801" "13865801" "subst" "0.000338039" "01943" "DNAH5_000185" "g.13865801T>C" "" "" "" "DNAH5(NM_001369.2):c.4331A>G (p.N1444S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13865692T>C" "" "VUS" "" "0000524373" "0" "30" "5" "13865870" "13865870" "subst" "2.03674E-5" "01943" "DNAH5_000186" "g.13865870C>T" "" "" "" "DNAH5(NM_001369.2):c.4262G>A (p.S1421N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13865761C>T" "" "likely benign" "" "0000524376" "0" "90" "5" "13867948" "13867949" "del" "0" "02329" "DNAH5_000187" "g.13867948_13867949del" "" "" "" "DNAH5(NM_001369.3):c.3989_3990delAG (p.E1330Afs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13867839_13867840del" "" "pathogenic" "" "0000524377" "0" "30" "5" "13868083" "13868083" "subst" "4.07362E-6" "01804" "DNAH5_000188" "g.13868083T>C" "" "" "" "DNAH5(NM_001369.2):c.3853A>G (p.(Asn1285Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13867974T>C" "" "likely benign" "" "0000524379" "0" "90" "5" "13870972" "13870972" "dup" "0" "02329" "DNAH5_000189" "g.13870972dup" "" "" "" "DNAH5(NM_001369.3):c.3739dupA (p.I1247Nfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13870863dup" "" "pathogenic" "" "0000524380" "0" "30" "5" "13871737" "13871737" "subst" "0.00041079" "01943" "DNAH5_000190" "g.13871737G>A" "" "" "" "DNAH5(NM_001369.2):c.3534C>T (p.N1178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13871628G>A" "" "likely benign" "" "0000524388" "0" "30" "5" "13883075" "13883075" "subst" "0.00277931" "01804" "DNAH5_000193" "g.13883075C>T" "" "" "" "DNAH5(NM_001369.2):c.3112G>A (p.(Val1038Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13882966C>T" "" "likely benign" "" "0000524397" "0" "30" "5" "13886223" "13886223" "subst" "0" "01804" "DNAH5_000196" "g.13886223C>A" "" "" "" "DNAH5(NM_001369.2):c.2593G>T (p.(Gly865Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886114C>A" "" "likely benign" "" "0000524398" "0" "30" "5" "13886229" "13886229" "subst" "0" "01804" "DNAH5_000197" "g.13886229C>A" "" "" "" "DNAH5(NM_001369.2):c.2587G>T (p.(Val863Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886120C>A" "" "likely benign" "" "0000524399" "0" "30" "5" "13886231" "13886231" "subst" "0" "01804" "DNAH5_000198" "g.13886231C>A" "" "" "" "DNAH5(NM_001369.2):c.2585G>T (p.(Cys862Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886122C>A" "" "likely benign" "" "0000524400" "0" "30" "5" "13886235" "13886235" "subst" "0" "01804" "DNAH5_000199" "g.13886235G>A" "" "" "" "DNAH5(NM_001369.2):c.2581C>T (p.(Leu861Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886126G>A" "" "likely benign" "" "0000524403" "0" "30" "5" "13886239" "13886240" "del" "0" "01804" "DNAH5_000202" "g.13886239_13886240del" "" "" "" "DNAH5(NM_001369.2):c.2578-2_2578-1del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886130_13886131del" "" "likely benign" "" "0000524404" "0" "30" "5" "13886240" "13886240" "subst" "0" "01804" "DNAH5_000203" "g.13886240T>A" "" "" "" "DNAH5(NM_001369.2):c.2578-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886131T>A" "" "likely benign" "" "0000524405" "0" "30" "5" "13886243" "13886243" "subst" "0" "01804" "DNAH5_000204" "g.13886243C>A" "" "" "" "DNAH5(NM_001369.2):c.2578-5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886134C>A" "" "likely benign" "" "0000524407" "0" "30" "5" "13886244" "13886244" "subst" "0" "01804" "DNAH5_000206" "g.13886244C>A" "" "" "" "DNAH5(NM_001369.2):c.2578-6G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886135C>A" "" "likely benign" "" "0000524408" "0" "30" "5" "13886244" "13886245" "del" "0" "01804" "DNAH5_000207" "g.13886244_13886245del" "" "" "" "DNAH5(NM_001369.2):c.2578-7_2578-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886135_13886136del" "" "likely benign" "" "0000524410" "0" "30" "5" "13886261" "13886263" "del" "0" "01804" "DNAH5_000095" "g.13886261_13886263del" "" "" "" "DNAH5(NM_001369.2):c.2578-10_2578-8del (p.(=)), DNAH5(NM_001369.2):c.2578-9_2578-7delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886152_13886154del" "" "likely benign" "" "0000524411" "0" "30" "5" "13886262" "13886263" "del" "0" "01804" "DNAH5_000092" "g.13886262_13886263del" "" "" "" "DNAH5(NM_001369.2):c.2578-8_2578-7del (p.(=)), DNAH5(NM_001369.2):c.2578-8_2578-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886153_13886154del" "" "likely benign" "" "0000524412" "0" "30" "5" "13886263" "13886263" "del" "0" "01804" "DNAH5_000091" "g.13886263del" "" "" "" "DNAH5(NM_001369.2):c.2578-7delT, DNAH5(NM_001369.2):c.2578-9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13886154del" "" "likely benign" "" "0000524413" "0" "30" "5" "13891234" "13891234" "del" "0" "01804" "DNAH5_000209" "g.13891234del" "" "" "" "DNAH5(NM_001369.2):c.2432-2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13891125del" "" "likely benign" "" "0000524414" "0" "50" "5" "13900312" "13900312" "subst" "4.06841E-6" "02329" "DNAH5_000210" "g.13900312T>C" "" "" "" "DNAH5(NM_001369.2):c.2259+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13900203T>C" "" "VUS" "" "0000524417" "0" "50" "5" "13902177" "13902177" "subst" "0.000815294" "01804" "DNAH5_000212" "g.13902177A>C" "" "" "" "DNAH5(NM_001369.2):c.1715T>G (p.(Leu572Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13902068A>C" "" "VUS" "" "0000524418" "0" "30" "5" "13902245" "13902245" "subst" "0.0102823" "01804" "DNAH5_000213" "g.13902245G>C" "" "" "" "DNAH5(NM_001369.2):c.1647C>G (p.(Asn549Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13902136G>C" "" "likely benign" "" "0000524419" "0" "30" "5" "13911508" "13911508" "subst" "0.0010003" "01804" "DNAH5_000214" "g.13911508G>A" "" "" "" "DNAH5(NM_001369.2):c.1631C>T (p.(Thr544Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13911399G>A" "" "likely benign" "" "0000524421" "0" "50" "5" "13913886" "13913886" "subst" "4.06706E-6" "01804" "DNAH5_000216" "g.13913886A>G" "" "" "" "DNAH5(NM_001369.2):c.1502T>C (p.(Ile501Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13913777A>G" "" "VUS" "" "0000524422" "0" "30" "5" "13914743" "13914743" "subst" "0.0015835" "01943" "DNAH5_000107" "g.13914743A>T" "" "" "" "DNAH5(NM_001369.2):c.1206T>A (p.N402K, p.(Asn402Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13914634A>T" "" "likely benign" "" "0000524424" "0" "50" "5" "13916533" "13916533" "subst" "0.000750273" "02325" "DNAH5_000109" "g.13916533A>G" "" "" "" "DNAH5(NM_001369.2):c.1121T>C (p.I374T), DNAH5(NM_001369.3):c.1121T>C (p.(Ile374Thr), p.I374T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13916424A>G" "" "VUS" "" "0000524425" "0" "90" "5" "13917251" "13917251" "subst" "1.22104E-5" "02329" "DNAH5_000218" "g.13917251C>T" "" "" "" "DNAH5(NM_001369.3):c.1089+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13917142C>T" "" "pathogenic" "" "0000524426" "0" "30" "5" "13919281" "13919281" "subst" "0" "01804" "DNAH5_000219" "g.13919281C>T" "" "" "" "DNAH5(NM_001369.2):c.975+4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13919172C>T" "" "likely benign" "" "0000524428" "0" "30" "5" "13919366" "13919366" "subst" "0.00100371" "01804" "DNAH5_000221" "g.13919366G>C" "" "" "" "DNAH5(NM_001369.2):c.894C>G (p.(Asn298Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13919257G>C" "" "likely benign" "" "0000524429" "0" "50" "5" "13922243" "13922243" "subst" "6.10277E-5" "01943" "DNAH5_000222" "g.13922243C>T" "" "" "" "DNAH5(NM_001369.2):c.633G>A (p.S211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13922134C>T" "" "VUS" "" "0000524432" "0" "30" "5" "13944537" "13944537" "subst" "4.08033E-6" "01804" "DNAH5_000223" "g.13944537A>G" "" "" "" "DNAH5(NM_001369.2):c.11T>C (p.(Ile4Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13944428A>G" "" "likely benign" "" "0000592563" "0" "70" "5" "13753399" "13753399" "del" "0.000162831" "00006" "DNAH5_000034" "g.13753399del" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "individual carrier for ciliary dyskinesia" "Germline" "" "rs397515540" "0" "" "" "g.13753290del" "" "pathogenic" "" "0000598474" "0" "70" "5" "13810356" "13810356" "dup" "0" "02551" "DNAH5_000224" "g.13810356dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.13810247dup" "" "likely pathogenic" "" "0000609487" "0" "30" "5" "13719144" "13719144" "subst" "0.000476485" "01804" "DNAH5_000225" "g.13719144T>C" "" "" "" "DNAH5(NM_001369.2):c.12346A>G (p.(Ile4116Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13719035T>C" "" "likely benign" "" "0000609505" "0" "30" "5" "13752255" "13752255" "subst" "0" "01943" "DNAH5_000227" "g.13752255C>A" "" "" "" "DNAH5(NM_001369.2):c.11016G>T (p.G3672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13752146C>A" "" "likely benign" "" "0000609506" "0" "30" "5" "13758969" "13758969" "subst" "4.06828E-6" "01804" "DNAH5_000228" "g.13758969T>G" "" "" "" "DNAH5(NM_001369.2):c.10405A>C (p.(Met3469Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13758860T>G" "" "likely benign" "" "0000609507" "0" "30" "5" "13770853" "13770853" "subst" "3.26501E-5" "02325" "DNAH5_000229" "g.13770853C>A" "" "" "" "DNAH5(NM_001369.3):c.9605+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13770744C>A" "" "likely benign" "" "0000609508" "0" "50" "5" "13811772" "13811772" "subst" "4.06147E-6" "01804" "DNAH5_000230" "g.13811772C>T" "" "" "" "DNAH5(NM_001369.2):c.7391G>A (p.(Gly2464Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13811663C>T" "" "VUS" "" "0000609509" "0" "30" "5" "13824302" "13824302" "subst" "0.00187391" "01804" "DNAH5_000057" "g.13824302T>C" "" "" "" "DNAH5(NM_001369.2):c.6579+6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13824193T>C" "" "likely benign" "" "0000609513" "0" "30" "5" "13830217" "13830217" "subst" "0.00071148" "01943" "DNAH5_000170" "g.13830217T>A" "" "" "" "DNAH5(NM_001369.2):c.6167A>T (p.K2056I, p.(Lys2056Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13830108T>A" "" "likely benign" "" "0000609514" "0" "30" "5" "13830749" "13830749" "subst" "0.000113755" "01943" "DNAH5_000233" "g.13830749A>G" "" "" "" "DNAH5(NM_001369.2):c.6018T>C (p.C2006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13830640A>G" "" "likely benign" "" "0000609516" "0" "50" "5" "13839637" "13839637" "subst" "0.000199524" "01943" "DNAH5_000234" "g.13839637A>G" "" "" "" "DNAH5(NM_001369.2):c.5710T>C (p.C1904R), DNAH5(NM_001369.3):c.5710T>C (p.(Cys1904Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13839528A>G" "" "VUS" "" "0000609517" "0" "50" "5" "13862659" "13862659" "subst" "0" "01804" "DNAH5_000235" "g.13862659G>T" "" "" "" "DNAH5(NM_001369.2):c.4794C>A (p.(Asn1598Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13862550G>T" "" "VUS" "" "0000621478" "0" "70" "5" "13751186" "13751186" "subst" "0" "02329" "DNAH5_000226" "g.13751186C>T" "" "" "" "DNAH5(NM_001369.3):c.11211+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13751077C>T" "" "likely pathogenic" "" "0000621480" "0" "90" "5" "13758990" "13758990" "subst" "5.2895E-5" "02329" "DNAH5_000145" "g.13758990G>A" "" "" "" "DNAH5(NM_001369.2):c.10384C>T (p.(Gln3462*)), DNAH5(NM_001369.3):c.10384C>T (p.Q3462*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13758881G>A" "" "pathogenic" "" "0000621482" "0" "50" "5" "13820457" "13820457" "subst" "1.64555E-5" "02329" "DNAH5_000231" "g.13820457G>A" "" "" "" "DNAH5(NM_001369.2):c.6839C>T (p.T2280I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13820348G>A" "" "VUS" "" "0000621483" "0" "50" "5" "13820560" "13820560" "subst" "0" "01943" "DNAH5_000232" "g.13820560T>C" "" "" "" "DNAH5(NM_001369.2):c.6736A>G (p.I2246V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13820451T>C" "" "VUS" "" "0000621486" "0" "30" "5" "13902234" "13902234" "subst" "1.66804E-5" "01943" "DNAH5_000236" "g.13902234T>C" "" "" "" "DNAH5(NM_001369.2):c.1658A>G (p.K553R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13902125T>C" "" "likely benign" "" "0000651606" "1" "50" "5" "13700881" "13700881" "subst" "4.47031E-5" "03575" "DNAH5_000237" "g.13700881C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201242847}" "Germline" "" "rs201242847" "0" "" "" "g.13700772C>T" "" "VUS" "" "0000651607" "1" "10" "5" "13721378" "13721378" "subst" "0.108154" "03575" "DNAH5_000238" "g.13721378A>G" "133/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "133 heterozygous; {DB:CLININrs17203442}" "Germline" "" "rs17203442" "0" "" "" "g.13721269A>G" "" "benign" "" "0000651608" "1" "50" "5" "13737379" "13737379" "subst" "0.00120735" "03575" "DNAH5_000138" "g.13737379G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs140948493}" "Germline" "" "rs140948493" "0" "" "" "g.13737270G>A" "" "VUS" "" "0000651610" "1" "70" "5" "13810293" "13810313" "del" "0" "03575" "DNAH5_000240" "g.13810293_13810313del" "6/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs727502975}" "Germline" "" "rs727502975" "0" "" "" "g.13810184_13810204del" "" "likely pathogenic" "" "0000651611" "1" "50" "5" "13817689" "13817689" "subst" "0.000422328" "03575" "DNAH5_000241" "g.13817689G>A" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs144983881}" "Germline" "" "rs144983881" "0" "" "" "g.13817580G>A" "" "VUS" "" "0000651612" "1" "10" "5" "13817825" "13817825" "subst" "0.0407061" "03575" "DNAH5_000242" "g.13817825T>C" "219/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "219 heterozygous; {DB:CLININrs17265718}" "Germline" "" "rs17265718" "0" "" "" "g.13817716T>C" "" "benign" "" "0000651613" "1" "50" "5" "13820544" "13820544" "subst" "0.000227533" "03575" "DNAH5_000243" "g.13820544G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs146392250}" "Germline" "" "rs146392250" "0" "" "" "g.13820435G>A" "" "VUS" "" "0000651614" "1" "30" "5" "13830823" "13830823" "subst" "0.000398371" "03575" "DNAH5_000172" "g.13830823C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs150814892}" "Germline" "" "rs150814892" "0" "" "" "g.13830714C>T" "" "likely benign" "" "0000651616" "1" "50" "5" "13841872" "13841872" "subst" "8.94222E-5" "03575" "DNAH5_000067" "g.13841872G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs142155986}" "Germline" "" "rs142155986" "0" "" "" "g.13841763G>A" "" "VUS" "" "0000651618" "1" "10" "5" "13867851" "13867851" "subst" "0.106793" "03575" "DNAH5_000244" "g.13867851G>A" "260/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "260 heterozygous; {DB:CLININrs13156044}" "Germline" "" "rs13156044" "0" "" "" "g.13867742G>A" "" "benign" "" "0000651619" "1" "50" "5" "13914743" "13914743" "subst" "0.0015835" "03575" "DNAH5_000107" "g.13914743A>T" "3/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs140782270}" "Germline" "" "rs140782270" "0" "" "" "g.13914634A>T" "" "VUS" "" "0000653063" "1" "50" "5" "13776691" "13776691" "subst" "0.000219811" "03575" "DNAH5_000239" "g.13776691C>A" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous; {DB:CLININrs113742238}" "Germline" "" "rs113742238" "0" "" "" "g.13776582C>A" "" "VUS" "" "0000653064" "1" "50" "5" "13931323" "13931323" "subst" "0.0005082" "03575" "DNAH5_000245" "g.13931323G>A" "25/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 25 heterozygous, no homozygous; {DB:CLININrs114220185}" "Germline" "" "rs114220185" "0" "" "" "g.13931214G>A" "" "VUS" "" "0000655290" "0" "30" "5" "13759044" "13759044" "subst" "4.88257E-5" "01943" "DNAH5_000246" "g.13759044G>A" "" "" "" "DNAH5(NM_001369.2):c.10330C>T (p.L3444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13758935G>A" "" "likely benign" "" "0000655291" "0" "50" "5" "13781044" "13781044" "subst" "0.00157094" "02325" "DNAH5_000247" "g.13781044G>C" "" "" "" "DNAH5(NM_001369.2):c.8845C>G (p.Q2949E), DNAH5(NM_001369.3):c.8845C>G (p.Q2949E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13780935G>C" "" "VUS" "" "0000655302" "0" "50" "5" "13902225" "13902225" "subst" "0" "01943" "DNAH5_000104" "g.13902225T>C" "" "" "" "DNAH5(NM_001369.2):c.1667A>G (p.D556G, p.(Asp556Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13902116T>C" "" "VUS" "" "0000668175" "3" "90" "5" "13701451" "13701454" "del" "0" "00006" "DNAH5_000248" "g.13701451_13701454del" "" "{PMID:Ta_Shma 2020:30148830}" "" "13432_13435delCACT" "transmission electron microscopy outer dynein arm defect" "Germline" "" "" "0" "" "" "g.13701342_13701345del" "" "pathogenic (recessive)" "" "0000668176" "3" "90" "5" "13701451" "13701454" "del" "0" "00006" "DNAH5_000248" "g.13701451_13701454del" "" "{PMID:Ta_Shma 2020:30148830}" "" "13432_13435delCACT" "transmission electron microscopy outer dynein arm defect, outer dynein arm docking complex" "Germline" "" "" "0" "" "" "g.13701342_13701345del" "" "pathogenic (recessive)" "" "0000668177" "3" "90" "5" "13701451" "13701454" "del" "0" "00006" "DNAH5_000248" "g.13701451_13701454del" "" "{PMID:Ta_Shma 2020:30148830}" "" "13432_13435delCACT" "transmission electron microscopy outer dynein arm defect" "Germline" "" "" "0" "" "" "g.13701342_13701345del" "" "pathogenic (recessive)" "" "0000668178" "3" "90" "5" "13701451" "13701454" "del" "0" "00006" "DNAH5_000248" "g.13701451_13701454del" "" "{PMID:Ta_Shma 2020:30148830}" "" "13432_13435delCACT" "transmission electron microscopy outer dynein arm defect" "Germline" "" "" "0" "" "" "g.13701342_13701345del" "" "pathogenic (recessive)" "" "0000668179" "3" "90" "5" "13701451" "13701454" "del" "0" "00006" "DNAH5_000248" "g.13701451_13701454del" "" "{PMID:Ta_Shma 2020:30148830}" "" "13432_13435delCACT" "transmission electron microscopy outer dynein arm defect" "Germline" "" "" "0" "" "" "g.13701342_13701345del" "" "pathogenic (recessive)" "" "0000669828" "3" "10" "5" "13721378" "13721378" "subst" "0.108154" "03575" "DNAH5_000238" "g.13721378A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs17203442}" "Germline" "" "rs17203442" "0" "" "" "g.13721269A>G" "" "benign" "" "0000669829" "3" "30" "5" "13737444" "13737444" "subst" "0.104926" "03575" "DNAH5_000028" "g.13737444G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs17263496}" "Germline" "" "rs17263496" "0" "" "" "g.13737335G>A" "" "likely benign" "" "0000669830" "3" "10" "5" "13817825" "13817825" "subst" "0.0407061" "03575" "DNAH5_000242" "g.13817825T>C" "6/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs17265718}" "Germline" "" "rs17265718" "0" "" "" "g.13817716T>C" "" "benign" "" "0000669832" "3" "10" "5" "13867851" "13867851" "subst" "0.106793" "03575" "DNAH5_000244" "g.13867851G>A" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs13156044}" "Germline" "" "rs13156044" "0" "" "" "g.13867742G>A" "" "benign" "" "0000670147" "3" "50" "5" "13776691" "13776691" "subst" "0.000219811" "03575" "DNAH5_000239" "g.13776691C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs113742238}" "Germline" "" "rs113742238" "0" "" "" "g.13776582C>A" "" "VUS" "" "0000673862" "2" "70" "5" "13751369" "13751369" "subst" "0" "03695" "DNAH5_000249" "g.13751369C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673863" "2" "90" "5" "13754425" "13754425" "subst" "0.000118027" "03695" "DNAH5_000250" "g.13754425C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677403" "0" "50" "5" "13776566" "13776566" "subst" "0.00047621" "01943" "DNAH5_000251" "g.13776566T>C" "" "" "" "DNAH5(NM_001369.2):c.9355A>G (p.K3119E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677406" "0" "50" "5" "13870976" "13870976" "subst" "0.000516739" "01943" "DNAH5_000252" "g.13870976C>T" "" "" "" "DNAH5(NM_001369.2):c.3734G>A (p.R1245H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677407" "0" "30" "5" "13876826" "13876826" "subst" "0.000398646" "01943" "DNAH5_000253" "g.13876826A>C" "" "" "" "DNAH5(NM_001369.2):c.3363T>G (p.S1121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689437" "0" "30" "5" "13830327" "13830327" "subst" "2.85265E-5" "02326" "DNAH5_000254" "g.13830327G>A" "" "" "" "DNAH5(NM_001369.2):c.6062-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000711127" "0" "70" "5" "13810323" "13810324" "dup" "0" "02551" "DNAH5_000255" "g.13810323_13810324dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.13810214_13810215dup" "" "likely pathogenic" "" "0000712961" "0" "50" "5" "13708315" "13708315" "subst" "2.43803E-5" "02551" "DNAH5_000256" "g.13708315C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000720184" "0" "50" "5" "13692191" "13692191" "subst" "4.07525E-6" "01943" "DNAH5_000125" "g.13692191T>A" "" "" "" "DNAH5(NM_001369.2):c.13777A>T (p.T4593S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720185" "0" "50" "5" "13717533" "13717533" "subst" "4.07E-6" "02325" "DNAH5_000257" "g.13717533C>T" "" "" "" "DNAH5(NM_001369.3):c.12596G>A (p.R4199H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720186" "0" "50" "5" "13721296" "13721296" "subst" "0" "01943" "DNAH5_000258" "g.13721296T>C" "" "" "" "DNAH5(NM_001369.2):c.12092A>G (p.D4031G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720191" "0" "30" "5" "13754395" "13754395" "subst" "4.47518E-5" "01943" "DNAH5_000143" "g.13754395G>A" "" "" "" "DNAH5(NM_001369.2):c.10472C>T (p.T3491M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720192" "0" "50" "5" "13759007" "13759007" "subst" "0.000471963" "02325" "DNAH5_000259" "g.13759007G>A" "" "" "" "DNAH5(NM_001369.3):c.10367C>T (p.(Ala3456Val), p.A3456V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720193" "0" "30" "5" "13766112" "13766112" "subst" "4.0659E-6" "01943" "DNAH5_000260" "g.13766112A>G" "" "" "" "DNAH5(NM_001369.2):c.10074T>C (p.T3358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720194" "0" "90" "5" "13769188" "13769188" "subst" "0" "02329" "DNAH5_000148" "g.13769188G>A" "" "" "" "DNAH5(NM_001369.2):c.9778C>T (p.Q3260*), DNAH5(NM_001369.3):c.9778C>T (p.Q3260*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720198" "0" "50" "5" "13809221" "13809221" "subst" "0.000288299" "02325" "DNAH5_000261" "g.13809221T>A" "" "" "" "DNAH5(NM_001369.3):c.7684A>T (p.(Ile2562Phe), p.I2562F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720205" "0" "70" "5" "13841098" "13841098" "del" "0" "02329" "DNAH5_000262" "g.13841098del" "" "" "" "DNAH5(NM_001369.3):c.5626delA (p.R1876Gfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720206" "0" "90" "5" "13841167" "13841167" "dup" "0" "02329" "DNAH5_000263" "g.13841167dup" "" "" "" "DNAH5(NM_001369.3):c.5563dupA (p.I1855Nfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720207" "0" "50" "5" "13841179" "13841179" "subst" "0" "01943" "DNAH5_000264" "g.13841179C>T" "" "" "" "DNAH5(NM_001369.2):c.5545G>A (p.A1849T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720208" "0" "50" "5" "13850914" "13850914" "subst" "0.00026406" "02325" "DNAH5_000073" "g.13850914C>T" "" "" "" "DNAH5(NM_001369.2):c.4961G>A (p.R1654Q, p.(Arg1654Gln)), DNAH5(NM_001369.3):c.4961G>A (p.R1654Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720212" "0" "50" "5" "13876874" "13876874" "subst" "0.000154717" "01943" "DNAH5_000265" "g.13876874G>T" "" "" "" "DNAH5(NM_001369.2):c.3315C>A (p.N1105K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720214" "0" "30" "5" "13891201" "13891201" "subst" "2.44387E-5" "01943" "DNAH5_000266" "g.13891201T>C" "" "" "" "DNAH5(NM_001369.2):c.2461A>G (p.N821D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000759990" "0" "50" "5" "13716796" "13716796" "subst" "0.000110001" "00000" "DNAH5_000016" "g.13716796C>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.13716687C>A" "" "VUS" "" "0000760078" "0" "50" "5" "13786351" "13786351" "subst" "0.00313362" "00000" "DNAH5_000048" "g.13786351C>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.13786242C>G" "" "VUS" "" "0000801901" "0" "50" "5" "13700965" "13700965" "subst" "0" "01943" "DNAH5_000267" "g.13700965T>G" "" "" "" "DNAH5(NM_001369.2):c.13507A>C (p.N4503H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801902" "0" "50" "5" "13708396" "13708396" "subst" "5.28249E-5" "01943" "DNAH5_000268" "g.13708396A>G" "" "" "" "DNAH5(NM_001369.2):c.13174T>C (p.F4392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801903" "0" "50" "5" "13721171" "13721171" "subst" "0.000166653" "01943" "DNAH5_000269" "g.13721171C>T" "" "" "" "DNAH5(NM_001369.2):c.12217G>A (p.V4073M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801909" "0" "50" "5" "13776691" "13776691" "subst" "0.000138399" "01943" "DNAH5_000270" "g.13776691C>T" "" "" "" "DNAH5(NM_001369.2):c.9230G>A (p.R3077Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801910" "0" "50" "5" "13781044" "13781044" "subst" "0.00157094" "01943" "DNAH5_000247" "g.13781044G>C" "" "" "" "DNAH5(NM_001369.2):c.8845C>G (p.Q2949E), DNAH5(NM_001369.3):c.8845C>G (p.Q2949E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801911" "0" "30" "5" "13794171" "13794171" "subst" "1.22068E-5" "02326" "DNAH5_000164" "g.13794171T>C" "" "" "" "DNAH5(NM_001369.2):c.7888-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801915" "0" "30" "5" "13817688" "13817688" "subst" "4.46701E-5" "01943" "DNAH5_000271" "g.13817688C>T" "" "" "" "DNAH5(NM_001369.2):c.6957G>A (p.T2319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801920" "0" "90" "5" "13917251" "13917251" "subst" "1.22104E-5" "02327" "DNAH5_000218" "g.13917251C>T" "" "" "" "DNAH5(NM_001369.3):c.1089+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850785" "0" "30" "5" "13701447" "13701447" "subst" "0.000154365" "01943" "DNAH5_000272" "g.13701447G>A" "" "" "" "DNAH5(NM_001369.2):c.13437C>T (p.C4479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850786" "0" "50" "5" "13736021" "13736021" "subst" "0.000329563" "01943" "DNAH5_000001" "g.13736021G>A" "" "" "" "DNAH5(NM_001369.2):c.11476C>T (p.L3826F, p.(Leu3826Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850788" "0" "50" "5" "13753575" "13753575" "subst" "5.29312E-5" "01943" "DNAH5_000140" "g.13753575G>A" "" "" "" "DNAH5(NM_001369.2):c.10639C>T (p.R3547W, p.(Arg3547Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850789" "0" "90" "5" "13793819" "13793819" "subst" "1.22161E-5" "02329" "DNAH5_000274" "g.13793819G>A" "" "" "" "DNAH5(NM_001369.3):c.8029C>T (p.R2677*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850790" "0" "50" "5" "13794163" "13794163" "subst" "0.000126121" "01943" "DNAH5_000275" "g.13794163G>A" "" "" "" "DNAH5(NM_001369.2):c.7892C>T (p.T2631M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850792" "0" "30" "5" "13824359" "13824359" "subst" "0.000130028" "01943" "DNAH5_000276" "g.13824359C>A" "" "" "" "DNAH5(NM_001369.2):c.6528G>T (p.T2176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850798" "0" "50" "5" "13871060" "13871060" "subst" "0.000386414" "01943" "DNAH5_000277" "g.13871060A>G" "" "" "" "DNAH5(NM_001369.2):c.3650T>C (p.I1217T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850799" "0" "30" "5" "13914059" "13914059" "subst" "0.000179959" "01943" "DNAH5_000279" "g.13914059C>T" "" "" "" "DNAH5(NM_001369.2):c.1329G>A (p.Q443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850800" "0" "50" "5" "13920711" "13920711" "subst" "0" "01943" "DNAH5_000281" "g.13920711A>G" "" "" "" "DNAH5(NM_001369.2):c.676T>C (p.C226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859764" "0" "30" "5" "13714715" "13714715" "subst" "4.06712E-6" "01943" "DNAH5_000273" "g.13714715A>G" "" "" "" "DNAH5(NM_001369.2):c.12924T>C (p.Y4308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859777" "0" "50" "5" "13902182" "13902182" "subst" "0" "01943" "DNAH5_000278" "g.13902182T>A" "" "" "" "DNAH5(NM_001369.2):c.1710A>T (p.R570S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859778" "0" "30" "5" "13914697" "13914697" "subst" "5.6974E-5" "01943" "DNAH5_000280" "g.13914697C>T" "" "" "" "DNAH5(NM_001369.2):c.1252G>A (p.A418T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886610" "0" "50" "5" "13714702" "13714702" "subst" "0" "02329" "DNAH5_000282" "g.13714702C>T" "" "" "" "DNAH5(NM_001369.2):c.12937G>A (p.V4313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886612" "0" "50" "5" "13780992" "13780992" "subst" "1.62839E-5" "02329" "DNAH5_000283" "g.13780992G>A" "" "" "" "DNAH5(NM_001369.2):c.8897C>T (p.T2966M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886613" "0" "50" "5" "13781052" "13781052" "subst" "0" "02329" "DNAH5_000284" "g.13781052C>A" "" "" "" "DNAH5(NM_001369.2):c.8837G>T (p.R2946L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886615" "0" "90" "5" "13810371" "13810371" "subst" "0" "02329" "DNAH5_000285" "g.13810371T>C" "" "" "" "DNAH5(NM_001369.3):c.7408-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912240" "0" "50" "5" "13844951" "13844951" "subst" "0.00253395" "02325" "DNAH5_000178" "g.13844951C>T" "" "" "" "DNAH5(NM_001369.2):c.5266G>A (p.(Glu1756Lys)), DNAH5(NM_001369.3):c.5266G>A (p.E1756K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912243" "0" "70" "5" "13882836" "13882836" "subst" "0" "02329" "DNAH5_000286" "g.13882836C>T" "" "" "" "DNAH5(NM_001369.3):c.3262+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929014" "0" "90" "5" "13769693" "13769693" "del" "8.13048E-6" "02329" "DNAH5_000287" "g.13769693del" "" "" "" "DNAH5(NM_001369.3):c.9637delG (p.A3213Lfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000936389" "0" "10" "5" "13885213" "13885213" "subst" "0" "00006" "DNAH5_000288" "g.13885213G>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_001369:c.C2868A (R956R)" "" "De novo" "" "" "0" "" "" "" "" "benign" "" "0000948479" "0" "90" "5" "13714591" "13714591" "subst" "0" "02329" "DNAH5_000289" "g.13714591C>A" "" "" "" "DNAH5(NM_001369.3):c.13048G>T (p.E4350*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948488" "0" "30" "5" "13829615" "13829615" "subst" "8.12843E-6" "02325" "DNAH5_000167" "g.13829615A>G" "" "" "" "DNAH5(NM_001369.2):c.6444+4T>C (p.?), DNAH5(NM_001369.3):c.6444+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948489" "0" "50" "5" "13829653" "13829653" "subst" "8.12803E-6" "02329" "DNAH5_000290" "g.13829653A>G" "" "" "" "DNAH5(NM_001369.3):c.6410T>C (p.L2137P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948490" "0" "70" "5" "13829759" "13829759" "subst" "2.43887E-5" "02329" "DNAH5_000291" "g.13829759G>A" "" "" "" "DNAH5(NM_001369.3):c.6304C>T (p.R2102C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948492" "0" "90" "5" "13868031" "13868031" "del" "2.03343E-5" "02329" "DNAH5_000292" "g.13868031del" "" "" "" "DNAH5(NM_001369.3):c.3905delT (p.L1302Rfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963433" "0" "30" "5" "13719018" "13719018" "subst" "0.00441568" "02325" "DNAH5_000132" "g.13719018G>A" "" "" "" "DNAH5(NM_001369.2):c.12472C>T (p.(Arg4158Trp)), DNAH5(NM_001369.3):c.12472C>T (p.R4158W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963439" "0" "90" "5" "13807773" "13807773" "subst" "0" "02325" "DNAH5_000294" "g.13807773G>T" "" "" "" "DNAH5(NM_001369.3):c.7814C>A (p.S2605*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963452" "0" "90" "5" "13864742" "13864742" "subst" "0.000182881" "02329" "DNAH5_000295" "g.13864742G>A" "" "" "" "DNAH5(NM_001369.3):c.4360C>T (p.R1454*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963453" "0" "50" "5" "13876793" "13876793" "subst" "0" "02327" "DNAH5_000296" "g.13876793C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971557" "0" "50" "5" "13914743" "13914743" "subst" "0.0015835" "00006" "DNAH5_000107" "g.13914743A>T" "" "{PMID:Del Rocio Perez Baca 2024:38412861}" "" "N402K" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13914634A>T" "" "VUS" "" "0000976551" "0" "50" "5" "13692193" "13692193" "subst" "0.000150823" "01804" "DNAH5_000004" "g.13692193C>T" "" "" "" "DNAH5(NM_001369.3):c.13775G>A (p.(Arg4592Gln), p.R4592Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976553" "0" "50" "5" "13708395" "13708395" "subst" "0.000422586" "01804" "DNAH5_000013" "g.13708395A>C" "" "" "" "DNAH5(NM_001369.3):c.13175T>G (p.(Phe4392Cys), p.F4392C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976554" "0" "50" "5" "13716783" "13716783" "subst" "4.06881E-6" "01804" "DNAH5_000297" "g.13716783G>C" "" "" "" "DNAH5(NM_001369.3):c.12722C>G (p.(Thr4241Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976555" "0" "50" "5" "13737496" "13737496" "subst" "8.5291E-5" "02329" "DNAH5_000298" "g.13737496A>G" "" "" "" "DNAH5(NM_001369.3):c.11320T>C (p.(Ser3774Pro), p.S3774P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976556" "0" "50" "5" "13751266" "13751266" "subst" "8.12889E-6" "02329" "DNAH5_000299" "g.13751266G>A" "" "" "" "DNAH5(NM_001369.3):c.11132C>T (p.T3711I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976557" "0" "50" "5" "13751270" "13751270" "subst" "2.43887E-5" "01804" "DNAH5_000300" "g.13751270G>A" "" "" "" "DNAH5(NM_001369.3):c.11128C>T (p.(Arg3710Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976560" "0" "50" "5" "13770982" "13770982" "subst" "7.31737E-5" "01804" "DNAH5_000301" "g.13770982C>A" "" "" "" "DNAH5(NM_001369.3):c.9481G>T (p.(Val3161Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976561" "0" "50" "5" "13771053" "13771053" "subst" "0.000122037" "01804" "DNAH5_000302" "g.13771053C>T" "" "" "" "DNAH5(NM_001369.3):c.9410G>A (p.(Cys3137Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976564" "0" "50" "5" "13776553" "13776553" "subst" "0" "01804" "DNAH5_000303" "g.13776553A>G" "" "" "" "DNAH5(NM_001369.3):c.9368T>C (p.(Val3123Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976566" "0" "50" "5" "13781023" "13781023" "subst" "8.1412E-6" "02329" "DNAH5_000304" "g.13781023C>T" "" "" "" "DNAH5(NM_001369.3):c.8866G>A (p.G2956R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976567" "0" "50" "5" "13786383" "13786383" "subst" "3.25661E-5" "01804" "DNAH5_000305" "g.13786383G>A" "" "" "" "DNAH5(NM_001369.3):c.8725C>T (p.(Arg2909Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976568" "0" "30" "5" "13788820" "13788820" "subst" "1.62682E-5" "01804" "DNAH5_000306" "g.13788820T>G" "" "" "" "DNAH5(NM_001369.3):c.8647+5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976569" "0" "70" "5" "13788996" "13788996" "dup" "0" "01804" "DNAH5_000307" "g.13788996dup" "" "" "" "DNAH5(NM_001369.3):c.8476dup (p.(Cys2826Leufs*2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976571" "0" "50" "5" "13794050" "13794050" "subst" "4.07246E-6" "01804" "DNAH5_000308" "g.13794050C>A" "" "" "" "DNAH5(NM_001369.3):c.8005G>T (p.(Asp2669Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976572" "0" "50" "5" "13807767" "13807767" "subst" "0" "01804" "DNAH5_000309" "g.13807767T>C" "" "" "" "DNAH5(NM_001369.3):c.7820A>G (p.(Tyr2607Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976578" "0" "70" "5" "13845040" "13845040" "subst" "1.21856E-5" "02329" "DNAH5_000310" "g.13845040A>G" "" "" "" "DNAH5(NM_001369.3):c.5177T>C (p.L1726P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976579" "0" "50" "5" "13850770" "13850770" "subst" "2.43766E-5" "01804" "DNAH5_000311" "g.13850770G>A" "" "" "" "DNAH5(NM_001369.3):c.5105C>T (p.(Ser1702Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976580" "0" "50" "5" "13850915" "13850915" "subst" "2.84373E-5" "01804" "DNAH5_000312" "g.13850915G>A" "" "" "" "DNAH5(NM_001369.3):c.4960C>T (p.(Arg1654Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976581" "0" "10" "5" "13859704" "13859704" "subst" "0.00246205" "01804" "DNAH5_000313" "g.13859704G>T" "" "" "" "DNAH5(NM_001369.3):c.4807C>A (p.(Pro1603Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976582" "0" "30" "5" "13859724" "13859724" "subst" "0" "01804" "DNAH5_000314" "g.13859724G>A" "" "" "" "DNAH5(NM_001369.3):c.4797-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976586" "0" "90" "5" "13871805" "13871805" "del" "4.06785E-6" "02329" "DNAH5_000315" "g.13871805del" "" "" "" "DNAH5(NM_001369.3):c.3466delA (p.I1156Lfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976588" "0" "30" "5" "13891080" "13891080" "subst" "0" "01804" "DNAH5_000316" "g.13891080A>T" "" "" "" "DNAH5(NM_001369.3):c.2577+5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976589" "0" "90" "5" "13902160" "13902160" "subst" "0" "02329" "DNAH5_000317" "g.13902160A>G" "" "" "" "DNAH5(NM_001369.3):c.1730+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976590" "0" "30" "5" "13914053" "13914053" "subst" "0.000110316" "01804" "DNAH5_000318" "g.13914053G>A" "" "" "" "DNAH5(NM_001369.3):c.1335C>T (p.(Cys445=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976591" "0" "50" "5" "13920594" "13920594" "subst" "2.8444E-5" "02325" "DNAH5_000319" "g.13920594C>T" "" "" "" "DNAH5(NM_001369.3):c.793G>A (p.E265K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994668" "0" "50" "5" "13717606" "13717606" "subst" "0.000310022" "02325" "DNAH5_000020" "g.13717606C>T" "" "" "" "DNAH5(NM_001369.2):c.12523G>A (p.(Val4175Met)), DNAH5(NM_001369.3):c.12523G>A (p.V4175M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994683" "0" "70" "5" "13845040" "13845040" "subst" "1.21856E-5" "02327" "DNAH5_000310" "g.13845040A>G" "" "" "" "DNAH5(NM_001369.3):c.5177T>C (p.L1726P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000994686" "0" "50" "5" "13886219" "13886219" "subst" "0" "02325" "DNAH5_000320" "g.13886219G>A" "" "" "" "DNAH5(NM_001369.3):c.2597C>T (p.A866V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025033" "0" "70" "5" "13753598" "13753598" "subst" "2.03764E-5" "02329" "DNAH5_000321" "g.13753598C>T" "" "" "" "DNAH5(NM_001369.3):c.10616G>A (p.R3539H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025042" "0" "50" "5" "13864729" "13864729" "subst" "0.000792438" "01943" "DNAH5_000184" "g.13864729C>T" "" "" "" "DNAH5(NM_001369.2):c.4373G>A (p.R1458Q, p.(Arg1458Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025043" "0" "50" "5" "13866329" "13866329" "subst" "1.62763E-5" "02329" "DNAH5_000322" "g.13866329C>G" "" "" "" "DNAH5(NM_001369.3):c.4116G>C (p.Q1372H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025044" "0" "30" "5" "13886261" "13886263" "del" "0" "01943" "DNAH5_000095" "g.13886261_13886263del" "" "" "" "DNAH5(NM_001369.2):c.2578-10_2578-8del (p.(=)), DNAH5(NM_001369.2):c.2578-9_2578-7delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025045" "0" "50" "5" "13901555" "13901555" "subst" "0.00124947" "01943" "DNAH5_000323" "g.13901555G>T" "" "" "" "DNAH5(NM_001369.2):c.1858C>A (p.Q620K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027586" "3" "90" "5" "13859704" "13859704" "subst" "0.00246205" "00006" "DNAH5_000313" "g.13859704G>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.13859595G>T" "" "pathogenic (recessive)" "" "0001027587" "3" "90" "5" "13841221" "13841221" "subst" "1.22202E-5" "00006" "DNAH5_000119" "g.13841221G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.13841112G>A" "" "pathogenic (recessive)" "" "0001027638" "0" "50" "5" "13923552" "13923552" "subst" "1.62729E-5" "00006" "DNAH5_000335" "g.13923552A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs1244727714" "0" "" "" "g.13923443A>G" "" "VUS" "" "0001027639" "0" "10" "5" "13900544" "13900544" "subst" "0.00972207" "00006" "DNAH5_000334" "g.13900544T>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs114717951" "0" "" "" "g.13900435T>G" "" "benign" "" "0001027640" "0" "10" "5" "13900321" "13900321" "subst" "0.00987779" "00006" "DNAH5_000002" "g.13900321G>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs115004914" "0" "" "" "g.13900212G>T" "" "benign" "" "0001027641" "0" "30" "5" "13885260" "13885260" "subst" "9.75856E-5" "00006" "DNAH5_000333" "g.13885260C>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs370080157" "0" "" "" "g.13885151C>T" "" "likely benign" "" "0001027642" "0" "30" "5" "13871800" "13871800" "subst" "0" "00006" "DNAH5_000332" "g.13871800C>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs865979045" "0" "" "" "g.13871691C>T" "" "likely benign" "" "0001027643" "0" "50" "5" "13866373" "13866373" "subst" "2.86587E-5" "00006" "DNAH5_000331" "g.13866373C>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs752638332" "0" "" "" "g.13866264C>T" "" "VUS" "" "0001027644" "0" "10" "5" "13865801" "13865801" "subst" "0.000338039" "00006" "DNAH5_000185" "g.13865801T>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs567013299" "0" "" "" "g.13865692T>C" "" "benign" "" "0001027645" "0" "50" "5" "13864592" "13864592" "subst" "0.000670361" "00006" "DNAH5_000074" "g.13864592C>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs143567667" "0" "" "" "g.13864483C>G" "" "VUS" "" "0001027646" "0" "30" "5" "13862773" "13862773" "subst" "4.06256E-6" "00006" "DNAH5_000330" "g.13862773G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs1283006383" "0" "" "" "g.13862664G>A" "" "likely benign" "" "0001027647" "0" "30" "5" "13862766" "13862766" "subst" "7.71862E-5" "00006" "DNAH5_000329" "g.13862766C>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs147567352" "0" "" "" "g.13862657C>T" "" "likely benign" "" "0001027648" "0" "50" "5" "13811925" "13811925" "subst" "0" "00006" "DNAH5_000328" "g.13811925A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.13811816A>G" "" "VUS" "" "0001027649" "0" "30" "5" "13809286" "13809286" "subst" "1.21832E-5" "00006" "DNAH5_000327" "g.13809286G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs144428526" "0" "" "" "g.13809177G>A" "" "likely benign" "" "0001027650" "0" "50" "5" "13786343" "13786343" "subst" "9.36063E-5" "00006" "DNAH5_000325" "g.13786343C>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs148539877" "0" "" "" "g.13786234C>T" "" "VUS" "" "0001027651" "0" "50" "5" "13716796" "13716796" "subst" "0.000110001" "00006" "DNAH5_000016" "g.13716796C>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs138045391" "0" "" "" "g.13716687C>A" "" "VUS" "" "0001027652" "0" "30" "5" "13700995" "13700995" "subst" "0.000365827" "00006" "DNAH5_000324" "g.13700995A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs192514899" "0" "" "" "g.13700886A>G" "" "likely benign" "" "0001027653" "0" "50" "5" "13807699" "13944589" "dup" "0" "00006" "DNAH5_000326" "g.(13794168_13807699)_(13944589_?)dup" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.(13794059_13807590)_(13944480_?)dup" "" "VUS" "" "0001034900" "0" "50" "5" "13735418" "13735418" "subst" "0.000313293" "01804" "DNAH5_000336" "g.13735418G>T" "" "" "" "DNAH5(NM_001369.3):c.11583C>A (p.(Ser3861Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034901" "0" "50" "5" "13737496" "13737496" "subst" "8.5291E-5" "01804" "DNAH5_000298" "g.13737496A>G" "" "" "" "DNAH5(NM_001369.3):c.11320T>C (p.(Ser3774Pro), p.S3774P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034902" "0" "50" "5" "13753565" "13753565" "subst" "4.06871E-6" "01804" "DNAH5_000337" "g.13753565A>C" "" "" "" "DNAH5(NM_001369.3):c.10649T>G (p.(Met3550Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034903" "0" "50" "5" "13759007" "13759007" "subst" "0.000471963" "01804" "DNAH5_000259" "g.13759007G>A" "" "" "" "DNAH5(NM_001369.3):c.10367C>T (p.(Ala3456Val), p.A3456V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034910" "0" "30" "5" "13788935" "13788935" "subst" "0.00010159" "01804" "DNAH5_000338" "g.13788935G>A" "" "" "" "DNAH5(NM_001369.3):c.8537C>T (p.(Ala2846Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034914" "0" "50" "5" "13809221" "13809221" "subst" "0.000288299" "01804" "DNAH5_000261" "g.13809221T>A" "" "" "" "DNAH5(NM_001369.3):c.7684A>T (p.(Ile2562Phe), p.I2562F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034916" "0" "50" "5" "13817665" "13817665" "subst" "6.90395E-5" "01804" "DNAH5_000339" "g.13817665G>T" "" "" "" "DNAH5(NM_001369.3):c.6980C>A (p.(Ala2327Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034917" "0" "50" "5" "13820506" "13820506" "subst" "3.25349E-5" "01804" "DNAH5_000340" "g.13820506T>C" "" "" "" "DNAH5(NM_001369.3):c.6790A>G (p.(Ser2264Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034919" "0" "50" "5" "13839637" "13839637" "subst" "0.000199524" "01804" "DNAH5_000234" "g.13839637A>G" "" "" "" "DNAH5(NM_001369.2):c.5710T>C (p.C1904R), DNAH5(NM_001369.3):c.5710T>C (p.(Cys1904Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034920" "0" "90" "5" "13841077" "13841077" "subst" "2.84557E-5" "02325" "DNAH5_000173" "g.13841077G>A" "" "" "" "DNAH5(NM_001369.3):c.5647C>T (p.R1883*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034921" "0" "50" "5" "13841872" "13841872" "subst" "8.94222E-5" "01804" "DNAH5_000067" "g.13841872G>A" "" "" "" "DNAH5(NM_001369.2):c.5413C>T (p.R1805C), DNAH5(NM_001369.3):c.5413C>T (p.(Arg1805Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034922" "0" "30" "5" "13844939" "13844939" "subst" "0" "01804" "DNAH5_000341" "g.13844939G>A" "" "" "" "DNAH5(NM_001369.3):c.5271+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034924" "0" "10" "5" "13864671" "13864671" "subst" "0.00532347" "01804" "DNAH5_000076" "g.13864671G>A" "" "" "" "DNAH5(NM_001369.2):c.4431C>T (p.S1477=), DNAH5(NM_001369.3):c.4431C>T (p.(Ser1477=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034925" "0" "90" "5" "13865784" "13865784" "subst" "8.15355E-6" "02325" "DNAH5_000342" "g.13865784G>A" "" "" "" "DNAH5(NM_001369.3):c.4348C>T (p.Q1450*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034928" "0" "30" "5" "13882927" "13882927" "subst" "0" "01804" "DNAH5_000343" "g.13882927A>G" "" "" "" "DNAH5(NM_001369.3):c.3175-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034930" "0" "50" "5" "13901603" "13901603" "subst" "7.03468E-5" "01804" "DNAH5_000344" "g.13901603A>G" "" "" "" "DNAH5(NM_001369.3):c.1810T>C (p.(Ser604Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034931" "0" "50" "5" "13913953" "13913953" "subst" "8.13286E-5" "01804" "DNAH5_000345" "g.13913953G>A" "" "" "" "DNAH5(NM_001369.3):c.1435C>T (p.(Arg479Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034932" "0" "50" "5" "13916533" "13916533" "subst" "0.000750273" "01804" "DNAH5_000109" "g.13916533A>G" "" "" "" "DNAH5(NM_001369.2):c.1121T>C (p.I374T), DNAH5(NM_001369.3):c.1121T>C (p.(Ile374Thr), p.I374T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034934" "0" "70" "5" "13923473" "13923473" "del" "0" "01804" "DNAH5_000346" "g.13923473del" "" "" "" "DNAH5(NM_001369.3):c.356del (p.(Asn119Thrfs*30))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DNAH5 ## Count = 400 "{{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}}" "0000018015" "00006519" "55" "11476" "0" "11476" "0" "c.11476C>T" "r.(?)" "p.(Leu3826Phe)" "?" "0000018016" "00006519" "55" "2253" "0" "2253" "0" "c.2253C>A" "r.(?)" "p.(Asn751Lys)" "?" "0000021763" "00006519" "75" "6453" "0" "6453" "0" "c.6453T>A" "r.(?)" "p.(Tyr2151*)" "39" "0000079490" "00006519" "00" "-1992899" "0" "2732555" "0" "c.-1992899_*2718680del" "r.0?" "p.0?" "" "0000247949" "00006519" "10" "3258" "0" "3258" "0" "c.3258T>C" "r.(?)" "p.(Leu1086=)" "" "0000247950" "00006519" "10" "2229" "0" "2229" "0" "c.2229T>C" "r.(?)" "p.(Asp743=)" "" "0000247951" "00006519" "10" "1503" "0" "1503" "0" "c.1503T>C" "r.(?)" "p.(Ile501=)" "" "0000247983" "00006519" "10" "36" "0" "36" "0" "c.36T>G" "r.(?)" "p.(His12Gln)" "" "0000248016" "00006519" "10" "5115" "-5" "5115" "-5" "c.5115-5T>C" "r.spl?" "p.?" "" "0000248017" "00006519" "10" "3835" "-3" "3835" "-3" "c.3835-3del" "r.spl?" "p.?" "" "0000249732" "00006519" "50" "13175" "0" "13175" "0" "c.13175T>G" "r.(?)" "p.(Phe4392Cys)" "" "0000249773" "00006519" "50" "2443" "0" "2443" "0" "c.2443T>A" "r.(?)" "p.(Leu815Met)" "" "0000250520" "00006519" "90" "10815" "0" "10815" "0" "c.10815del" "r.(?)" "p.(Pro3606HisfsTer23)" "" "0000253210" "00006519" "10" "3258" "0" "3258" "0" "c.3258T>C" "r.(?)" "p.(Leu1086=)" "" "0000253211" "00006519" "10" "2229" "0" "2229" "0" "c.2229T>C" "r.(?)" "p.(Asp743=)" "" "0000253212" "00006519" "10" "1503" "0" "1503" "0" "c.1503T>C" "r.(?)" "p.(Ile501=)" "" "0000253244" "00006519" "10" "36" "0" "36" "0" "c.36T>G" "r.(?)" "p.(His12Gln)" "" "0000253277" "00006519" "10" "5115" "-5" "5115" "-5" "c.5115-5T>C" "r.spl?" "p.?" "" "0000253278" "00006519" "10" "3835" "-3" "3835" "-3" "c.3835-3del" "r.spl?" "p.?" "" "0000253443" "00006519" "10" "12708" "0" "12708" "0" "c.12708T>C" "r.(?)" "p.(Gly4236=)" "" "0000253614" "00006519" "10" "1772" "0" "1772" "0" "c.1772T>G" "r.(?)" "p.(Leu591Arg)" "" "0000253781" "00006519" "10" "8449" "-12" "8449" "-12" "c.8449-12T>C" "r.(=)" "p.(=)" "" "0000253782" "00006519" "10" "6989" "-13" "6989" "-13" "c.6989-13T>C" "r.(=)" "p.(=)" "" "0000253783" "00006519" "10" "5114" "11" "5114" "11" "c.5114+11T>C" "r.(=)" "p.(=)" "" "0000253784" "00006519" "10" "3598" "20" "3598" "20" "c.3598+20T>C" "r.(=)" "p.(=)" "" "0000253785" "00006519" "10" "2578" "-7" "2578" "-7" "c.2578-7del" "r.(=)" "p.(=)" "" "0000253786" "00006519" "10" "58" "-13" "58" "-13" "c.58-13T>C" "r.(=)" "p.(=)" "" "0000256074" "00006519" "50" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Ile374Thr)" "" "0000256078" "00006519" "50" "11913" "0" "11913" "0" "c.11913T>G" "r.(?)" "p.(Ile3971Met)" "" "0000267454" "00006519" "10" "12401" "0" "12401" "0" "c.12401C>T" "r.(?)" "p.(Ala4134Val)" "" "0000267455" "00006519" "10" "12468" "0" "12468" "0" "c.12468A>C" "r.(?)" "p.(Gly4156=)" "" "0000267456" "00006519" "10" "12910" "-11" "12910" "-11" "c.12910-11C>T" "r.(=)" "p.(=)" "" "0000267457" "00006519" "10" "13348" "0" "13348" "0" "c.13348A>G" "r.(?)" "p.(Ile4450Val)" "" "0000267458" "00006519" "10" "13359" "0" "13359" "0" "c.13359A>G" "r.(?)" "p.(Thr4453=)" "" "0000267459" "00006519" "50" "13775" "0" "13775" "0" "c.13775G>A" "r.(?)" "p.(Arg4592Gln)" "" "0000267460" "00006519" "10" "1672" "0" "1672" "0" "c.1672A>G" "r.(?)" "p.(Thr558Ala)" "" "0000267461" "00006519" "10" "192" "14" "192" "14" "c.192+14C>G" "r.(=)" "p.(=)" "" "0000267462" "00006519" "10" "2296" "0" "2296" "0" "c.2296A>T" "r.(?)" "p.(Ile766Leu)" "" "0000267463" "00006519" "10" "5172" "0" "5172" "0" "c.5172C>T" "r.(?)" "p.(Ala1724=)" "" "0000267464" "00006519" "10" "6264" "0" "6264" "0" "c.6264C>T" "r.(?)" "p.(Ala2088=)" "" "0000267465" "00006519" "10" "6444" "11" "6444" "11" "c.6444+11C>T" "r.(=)" "p.(=)" "" "0000267466" "00006519" "10" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Gly24Glu)" "" "0000267467" "00006519" "10" "7609" "19" "7609" "19" "c.7609+19C>T" "r.(=)" "p.(=)" "" "0000267468" "00006519" "10" "8586" "0" "8586" "0" "c.8586G>T" "r.(?)" "p.(Leu2862Phe)" "" "0000268700" "00006519" "70" "13729" "0" "13729" "0" "c.13729C>T" "r.(?)" "p.(Arg4577Ter)" "" "0000268701" "00006519" "50" "4961" "0" "4961" "0" "c.4961G>A" "r.(?)" "p.(Arg1654Gln)" "" "0000268702" "00006519" "90" "5557" "0" "5557" "0" "c.5557A>T" "r.(?)" "p.(Lys1853Ter)" "" "0000268703" "00006519" "90" "9235" "0" "9235" "0" "c.9235C>T" "r.(?)" "p.(Arg3079Ter)" "" "0000270823" "00006519" "90" "11668" "0" "11668" "0" "c.11668G>T" "r.(?)" "p.(Glu3890Ter)" "" "0000270824" "00006519" "30" "2578" "-9" "2578" "-7" "c.2578-9_2578-7del" "r.(=)" "p.(=)" "" "0000270825" "00006519" "10" "2578" "-7" "2578" "-7" "c.2578-7del" "r.(=)" "p.(=)" "" "0000275275" "00006519" "10" "10140" "0" "10140" "0" "c.10140A>G" "r.(?)" "p.(Glu3380=)" "" "0000275276" "00006519" "10" "10473" "0" "10473" "0" "c.10473G>A" "r.(?)" "p.(Thr3491=)" "" "0000275277" "00006519" "50" "11054" "0" "11054" "0" "c.11054A>G" "r.(?)" "p.(Asp3685Gly)" "" "0000275278" "00006519" "50" "11140" "0" "11140" "0" "c.11140A>G" "r.(?)" "p.(Ile3714Val)" "" "0000275279" "00006519" "50" "11189" "0" "11189" "0" "c.11189G>C" "r.(?)" "p.(Arg3730Thr)" "" "0000275280" "00006519" "50" "11326" "0" "11326" "0" "c.11326G>A" "r.(?)" "p.(Val3776Ile)" "" "0000275281" "00006519" "10" "11372" "0" "11372" "0" "c.11372C>T" "r.(?)" "p.(Thr3791Ile)" "" "0000275282" "00006519" "50" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Val400Met)" "" "0000275283" "00006519" "10" "12033" "7" "12033" "7" "c.12033+7A>G" "r.(=)" "p.(=)" "" "0000275284" "00006519" "10" "12401" "0" "12401" "0" "c.12401C>T" "r.(?)" "p.(Ala4134Val)" "" "0000275285" "00006519" "10" "12468" "0" "12468" "0" "c.12468A>C" "r.(?)" "p.(Gly4156=)" "" "0000275286" "00006519" "50" "12574" "0" "12574" "0" "c.12574C>T" "r.(?)" "p.(His4192Tyr)" "" "0000275287" "00006519" "10" "12658" "0" "12658" "0" "c.12658A>G" "r.(?)" "p.(Thr4220Ala)" "" "0000275288" "00006519" "10" "12910" "-11" "12910" "-11" "c.12910-11C>T" "r.(=)" "p.(=)" "" "0000275289" "00006519" "10" "13071" "0" "13071" "0" "c.13071C>T" "r.(?)" "p.(Ala4357=)" "" "0000275290" "00006519" "10" "13338" "16" "13338" "16" "c.13338+16C>T" "r.(=)" "p.(=)" "" "0000275291" "00006519" "10" "13348" "0" "13348" "0" "c.13348A>G" "r.(?)" "p.(Ile4450Val)" "" "0000275292" "00006519" "10" "13359" "0" "13359" "0" "c.13359A>G" "r.(?)" "p.(Thr4453=)" "" "0000275293" "00006519" "10" "13462" "0" "13462" "0" "c.13462C>A" "r.(?)" "p.(Pro4488Thr)" "" "0000275294" "00006519" "90" "13486" "0" "13486" "0" "c.13486C>T" "r.(?)" "p.(Arg4496Ter)" "" "0000275295" "00006519" "50" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478Gln)" "" "0000275296" "00006519" "10" "1672" "0" "1672" "0" "c.1672A>G" "r.(?)" "p.(Thr558Ala)" "" "0000275297" "00006519" "10" "192" "14" "192" "14" "c.192+14C>G" "r.(=)" "p.(=)" "" "0000275298" "00006519" "30" "2253" "0" "2253" "0" "c.2253C>A" "r.(?)" "p.(Asn751Lys)" "" "0000275299" "00006519" "10" "2296" "0" "2296" "0" "c.2296A>T" "r.(?)" "p.(Ile766Leu)" "" "0000275300" "00006519" "30" "2368" "0" "2368" "0" "c.2368G>A" "r.(?)" "p.(Ala790Thr)" "" "0000275301" "00006519" "30" "2400" "0" "2400" "0" "c.2400G>A" "r.(?)" "p.(Glu800=)" "" "0000275302" "00006519" "10" "2578" "-8" "2578" "-7" "c.2578-8_2578-7del" "r.(=)" "p.(=)" "" "0000275304" "00006519" "10" "2683" "0" "2683" "0" "c.2683G>A" "r.(?)" "p.(Glu895Lys)" "" "0000275305" "00006519" "30" "3013" "0" "3013" "0" "c.3013A>T" "r.(?)" "p.(Asn1005Tyr)" "" "0000275306" "00006519" "10" "3241" "0" "3241" "0" "c.3241A>G" "r.(?)" "p.(Met1081Val)" "" "0000275307" "00006519" "30" "3514" "0" "3514" "0" "c.3514C>A" "r.(?)" "p.(Gln1172Lys)" "" "0000275308" "00006519" "30" "3775" "0" "3775" "0" "c.3775G>A" "r.(?)" "p.(Ala1259Thr)" "" "0000275309" "00006519" "30" "3987" "0" "3987" "0" "c.3987A>G" "r.(?)" "p.(Lys1329=)" "" "0000275310" "00006519" "10" "4152" "0" "4152" "0" "c.4152A>G" "r.(?)" "p.(Thr1384=)" "" "0000275311" "00006519" "10" "4374" "0" "4374" "0" "c.4374G>T" "r.(?)" "p.(Arg1458=)" "" "0000275312" "00006519" "10" "4431" "0" "4431" "0" "c.4431C>T" "r.(?)" "p.(Ser1477=)" "" "0000275313" "00006519" "30" "4509" "0" "4509" "0" "c.4509C>T" "r.(?)" "p.(Thr1503=)" "" "0000275314" "00006519" "50" "4961" "0" "4961" "0" "c.4961G>A" "r.(?)" "p.(Arg1654Gln)" "" "0000275315" "00006519" "30" "5115" "-4" "5115" "-4" "c.5115-4G>A" "r.spl?" "p.?" "" "0000275316" "00006519" "30" "5115" "-5" "5115" "-4" "c.5115-5_5115-4inv" "r.spl?" "p.?" "" "0000275317" "00006519" "10" "5172" "0" "5172" "0" "c.5172C>T" "r.(?)" "p.(Ala1724=)" "" "0000275318" "00006519" "50" "5413" "0" "5413" "0" "c.5413C>T" "r.(?)" "p.(Arg1805Cys)" "" "0000275319" "00006519" "10" "5658" "0" "5658" "0" "c.5658C>T" "r.(?)" "p.(Tyr1886=)" "" "0000275320" "00006519" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "" "0000275321" "00006519" "10" "5882" "6" "5882" "6" "c.5882+6G>A" "r.(=)" "p.(=)" "" "0000275322" "00006519" "10" "6061" "10" "6061" "10" "c.6061+10A>G" "r.(=)" "p.(=)" "" "0000275323" "00006519" "30" "6062" "-4" "6062" "-4" "c.6062-4G>A" "r.spl?" "p.?" "" "0000275324" "00006519" "50" "6228" "0" "6228" "0" "c.6228A>G" "r.(?)" "p.(Glu2076=)" "" "0000275325" "00006519" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(Asn208=)" "" "0000275326" "00006519" "10" "6264" "0" "6264" "0" "c.6264C>T" "r.(?)" "p.(Ala2088=)" "" "0000275327" "00006519" "10" "6444" "11" "6444" "11" "c.6444+11C>T" "r.(=)" "p.(=)" "" "0000275328" "00006519" "10" "6444" "8" "6444" "8" "c.6444+8A>G" "r.(=)" "p.(=)" "" "0000275329" "00006519" "10" "6579" "6" "6579" "6" "c.6579+6A>G" "r.(=)" "p.(=)" "" "0000275330" "00006519" "50" "6748" "0" "6748" "0" "c.6748G>A" "r.(?)" "p.(Glu2250Lys)" "" "0000275331" "00006519" "10" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Gly24Glu)" "" "0000275332" "00006519" "10" "7274" "0" "7274" "0" "c.7274G>A" "r.(?)" "p.(Arg2425His)" "" "0000275333" "00006519" "30" "727" "0" "727" "0" "c.727C>G" "r.(?)" "p.(Leu243Val)" "" "0000275334" "00006519" "10" "7609" "19" "7609" "19" "c.7609+19C>T" "r.(=)" "p.(=)" "" "0000275335" "00006519" "10" "8586" "0" "8586" "0" "c.8586G>T" "r.(?)" "p.(Leu2862Phe)" "" "0000275336" "00006519" "50" "8805" "0" "8805" "0" "c.8805G>C" "r.(?)" "p.(Met2935Ile)" "" "0000275337" "00006519" "30" "8821" "-16" "8821" "-16" "c.8821-16C>T" "r.(=)" "p.(=)" "" "0000275338" "00006519" "10" "8898" "0" "8898" "0" "c.8898G>A" "r.(?)" "p.(Thr2966=)" "" "0000275339" "00006519" "50" "8936" "0" "8936" "0" "c.8936A>G" "r.(?)" "p.(Gln2979Arg)" "" "0000275340" "00006519" "50" "9203" "0" "9203" "0" "c.9203A>G" "r.(?)" "p.(Glu3068Gly)" "" "0000275341" "00006519" "10" "9522" "0" "9522" "0" "c.9522G>A" "r.(?)" "p.(Thr3174=)" "" "0000330262" "00006519" "50" "13766" "0" "13766" "0" "c.13766A>G" "r.(?)" "p.(Lys4589Arg)" "" "0000330265" "00006519" "30" "12523" "0" "12523" "0" "c.12523G>A" "r.(?)" "p.(Val4175Met)" "" "0000330266" "00006519" "50" "12014" "0" "12014" "0" "c.12014C>G" "r.(?)" "p.(Pro4005Arg)" "" "0000330267" "00006519" "50" "11986" "0" "11986" "0" "c.11986C>T" "r.(?)" "p.(Arg3996Cys)" "" "0000330268" "00006519" "50" "11476" "0" "11476" "0" "c.11476C>T" "r.(?)" "p.(Leu3826Phe)" "" "0000330269" "00006519" "50" "10880" "0" "10880" "0" "c.10880C>T" "r.(?)" "p.(Ser3627Phe)" "" "0000330270" "00006519" "50" "10815" "0" "10815" "0" "c.10815del" "r.(?)" "p.(Pro3606HisfsTer23)" "" "0000330271" "00006519" "50" "10657" "0" "10657" "0" "c.10657C>T" "r.(?)" "p.(Arg3553Trp)" "" "0000330272" "00006519" "10" "10457" "0" "10457" "0" "c.10457T>C" "r.(?)" "p.(Met3486Thr)" "" "0000330273" "00006519" "50" "8999" "0" "8999" "0" "c.8999G>A" "r.(?)" "p.(Arg3000Gln)" "" "0000330274" "00006519" "50" "8842" "0" "8842" "0" "c.8842C>T" "r.(?)" "p.(Pro2948Ser)" "" "0000330275" "00006519" "30" "8757" "0" "8757" "0" "c.8757G>C" "r.(?)" "p.(Glu2919Asp)" "" "0000330276" "00006519" "50" "7531" "0" "7531" "0" "c.7531C>T" "r.(?)" "p.(Arg2511Trp)" "" "0000330278" "00006519" "50" "4961" "0" "4961" "0" "c.4961G>A" "r.(?)" "p.(Arg1654Gln)" "" "0000330279" "00006519" "50" "4510" "0" "4510" "0" "c.4510G>C" "r.(?)" "p.(Gly1504Arg)" "" "0000330280" "00006519" "50" "4016" "0" "4016" "0" "c.4016T>G" "r.(?)" "p.(Leu1339Arg)" "" "0000330283" "00006519" "30" "2578" "-8" "2578" "-6" "c.2578-8_2578-6del" "r.(=)" "p.(=)" "" "0000330284" "00006519" "30" "2578" "-10" "2578" "-7" "c.2578-10_2578-7del" "r.(=)" "p.(=)" "" "0000330285" "00006519" "30" "2253" "0" "2253" "0" "c.2253C>A" "r.(?)" "p.(Asn751Lys)" "" "0000330286" "00006519" "50" "1667" "0" "1667" "0" "c.1667A>G" "r.(?)" "p.(Asp556Gly)" "" "0000330287" "00006519" "30" "1206" "0" "1206" "0" "c.1206T>A" "r.(?)" "p.(Asn402Lys)" "" "0000330288" "00006519" "50" "981" "0" "981" "0" "c.981G>T" "r.(?)" "p.(Trp327Cys)" "" "0000330289" "00006519" "50" "116" "0" "116" "0" "c.116A>G" "r.(?)" "p.(Tyr39Cys)" "" "0000344615" "00006519" "90" "5503" "0" "5503" "0" "c.5503C>T" "r.(?)" "p.(Gln1835Ter)" "" "0000345600" "00006519" "50" "2869" "0" "2869" "0" "c.2869G>A" "r.(?)" "p.(Glu957Lys)" "" "0000408300" "00006519" "70" "9374" "-2" "9374" "-2" "c.9374-2A>G" "r.spl" "p.?" "55i" "0000408301" "00006519" "70" "9877" "0" "9877" "0" "c.9877G>T" "r.(?)" "p.(Glu3293*)" "58" "0000524237" "00006519" "50" "13696" "0" "13696" "0" "c.13696G>C" "r.(?)" "p.(Val4566Leu)" "" "0000524240" "00006519" "90" "13393" "0" "13394" "0" "c.13393_13394insCCAGA" "r.(?)" "p.(Asn4465ThrfsTer20)" "" "0000524242" "00006519" "30" "13286" "0" "13286" "0" "c.13286G>A" "r.(?)" "p.(Arg4429Gln)" "" "0000524243" "00006519" "50" "12958" "0" "12958" "0" "c.12958G>A" "r.(?)" "p.(Ala4320Thr)" "" "0000524244" "00006519" "30" "12878" "0" "12878" "0" "c.12878G>A" "r.(?)" "p.(Ser4293Asn)" "" "0000524247" "00006519" "30" "12472" "0" "12472" "0" "c.12472C>T" "r.(?)" "p.(Arg4158Trp)" "" "0000524248" "00006519" "50" "12413" "0" "12413" "0" "c.12413T>G" "r.(?)" "p.(Phe4138Cys)" "" "0000524249" "00006519" "30" "12349" "0" "12349" "0" "c.12349A>G" "r.(?)" "p.(Ile4117Val)" "" "0000524250" "00006519" "10" "12280" "-17" "12280" "-17" "c.12280-17T>C" "r.(=)" "p.(=)" "" "0000524253" "00006519" "50" "12251" "0" "12251" "0" "c.12251G>A" "r.(?)" "p.(Arg4084Gln)" "" "0000524262" "00006519" "30" "12033" "7" "12033" "7" "c.12033+7A>G" "r.(=)" "p.(=)" "" "0000524266" "00006519" "50" "11464" "0" "11464" "0" "c.11464C>T" "r.(?)" "p.(Arg3822Trp)" "" "0000524267" "00006519" "30" "11437" "0" "11437" "0" "c.11437C>T" "r.(?)" "p.(Arg3813Trp)" "" "0000524282" "00006519" "90" "10815" "0" "10815" "0" "c.10815del" "r.(?)" "p.(Pro3606HisfsTer23)" "" "0000524283" "00006519" "90" "10815" "0" "10815" "0" "c.10815del" "r.(?)" "p.(Pro3606HisfsTer23)" "" "0000524284" "00006519" "50" "10646" "0" "10646" "0" "c.10646A>G" "r.(?)" "p.(Glu3549Gly)" "" "0000524285" "00006519" "30" "10639" "0" "10639" "0" "c.10639C>T" "r.(?)" "p.(Arg3547Trp)" "" "0000524286" "00006519" "50" "10615" "0" "10615" "0" "c.10615C>T" "r.(?)" "p.(Arg3539Cys)" "" "0000524289" "00006519" "50" "10451" "0" "10451" "0" "c.10451A>T" "r.(?)" "p.(His3484Leu)" "" "0000524290" "00006519" "90" "10384" "0" "10384" "0" "c.10384C>T" "r.(?)" "p.(Gln3462Ter)" "" "0000524291" "00006519" "50" "10189" "0" "10189" "0" "c.10189A>T" "r.(?)" "p.(Lys3397Ter)" "" "0000524293" "00006519" "90" "9778" "0" "9778" "0" "c.9778C>T" "r.(?)" "p.(Gln3260Ter)" "" "0000524294" "00006519" "10" "9721" "-12" "9721" "-12" "c.9721-12A>T" "r.(=)" "p.(=)" "" "0000524295" "00006519" "10" "9721" "-12" "9721" "-12" "c.9721-12A>T" "r.(=)" "p.(=)" "" "0000524296" "00006519" "30" "9681" "0" "9681" "0" "c.9681A>G" "r.(?)" "p.(Lys3227=)" "" "0000524297" "00006519" "30" "9590" "0" "9590" "0" "c.9590G>A" "r.(?)" "p.(Arg3197Gln)" "" "0000524305" "00006519" "50" "8843" "0" "8845" "0" "c.8843_8845del" "r.(?)" "p.(Pro2948del)" "" "0000524306" "00006519" "50" "8828" "0" "8828" "0" "c.8828G>A" "r.(?)" "p.(Arg2943His)" "" "0000524309" "00006519" "50" "8141" "0" "8141" "0" "c.8141A>G" "r.(?)" "p.(Asn2714Ser)" "" "0000524310" "00006519" "50" "8010" "15" "8010" "15" "c.8010+15T>G" "r.(=)" "p.(=)" "" "0000524311" "00006519" "30" "7998" "0" "7998" "0" "c.7998G>T" "r.(?)" "p.(Glu2666Asp)" "" "0000524313" "00006519" "50" "7943" "0" "7943" "0" "c.7943C>T" "r.(?)" "p.(Ala2648Val)" "" "0000524314" "00006519" "30" "7888" "-4" "7888" "-4" "c.7888-4A>G" "r.spl?" "p.?" "" "0000524315" "00006519" "10" "7388" "0" "7388" "0" "c.7388A>G" "r.(?)" "p.(Gln2463Arg)" "" "0000524324" "00006519" "30" "6919" "0" "6919" "0" "c.6919G>A" "r.(?)" "p.(Val2307Ile)" "" "0000524338" "00006519" "30" "6444" "4" "6444" "4" "c.6444+4T>C" "r.spl?" "p.?" "" "0000524339" "00006519" "70" "6444" "0" "6444" "0" "c.6444G>A" "r.(?)" "p.(Gln2148=)" "" "0000524341" "00006519" "30" "6167" "0" "6167" "0" "c.6167A>T" "r.(?)" "p.(Lys2056Ile)" "" "0000524342" "00006519" "90" "6084" "0" "6084" "0" "c.6084G>A" "r.(?)" "p.(Trp2028Ter)" "" "0000524347" "00006519" "30" "5882" "6" "5882" "6" "c.5882+6G>A" "r.(=)" "p.(=)" "" "0000524348" "00006519" "90" "5647" "0" "5647" "0" "c.5647C>T" "r.(?)" "p.(Arg1883Ter)" "" "0000524349" "00006519" "90" "5495" "0" "5495" "0" "c.5495T>A" "r.(?)" "p.(Leu1832Ter)" "" "0000524351" "00006519" "30" "5272" "-7" "5272" "-7" "c.5272-7A>T" "r.(=)" "p.(=)" "" "0000524352" "00006519" "30" "5272" "-6" "5272" "-6" "c.5272-6del" "r.(=)" "p.(=)" "" "0000524353" "00006519" "30" "5266" "0" "5266" "0" "c.5266G>A" "r.(?)" "p.(Glu1756Lys)" "" "0000524356" "00006519" "50" "5095" "0" "5095" "0" "c.5095T>A" "r.(?)" "p.(Cys1699Ser)" "" "0000524357" "00006519" "50" "5003" "0" "5003" "0" "c.5003G>A" "r.(?)" "p.(Arg1668Gln)" "" "0000524360" "00006519" "50" "4867" "0" "4867" "0" "c.4867G>A" "r.(?)" "p.(Glu1623Lys)" "" "0000524361" "00006519" "30" "4373" "0" "4373" "0" "c.4373G>A" "r.(?)" "p.(Arg1458Gln)" "" "0000524366" "00006519" "50" "4331" "0" "4331" "0" "c.4331A>G" "r.(?)" "p.(Asn1444Ser)" "" "0000524373" "00006519" "30" "4262" "0" "4262" "0" "c.4262G>A" "r.(?)" "p.(Ser1421Asn)" "" "0000524376" "00006519" "90" "3989" "0" "3990" "0" "c.3989_3990del" "r.(?)" "p.(Glu1330AlafsTer3)" "" "0000524377" "00006519" "30" "3853" "0" "3853" "0" "c.3853A>G" "r.(?)" "p.(Asn1285Asp)" "" "0000524379" "00006519" "90" "3739" "0" "3739" "0" "c.3739dup" "r.(?)" "p.(Ile1247AsnfsTer2)" "" "0000524380" "00006519" "30" "3534" "0" "3534" "0" "c.3534C>T" "r.(?)" "p.(Asn1178=)" "" "0000524388" "00006519" "30" "3112" "0" "3112" "0" "c.3112G>A" "r.(?)" "p.(Val1038Met)" "" "0000524397" "00006519" "30" "2593" "0" "2593" "0" "c.2593G>T" "r.(?)" "p.(Gly865Cys)" "" "0000524398" "00006519" "30" "2587" "0" "2587" "0" "c.2587G>T" "r.(?)" "p.(Val863Leu)" "" "0000524399" "00006519" "30" "2585" "0" "2585" "0" "c.2585G>T" "r.(?)" "p.(Cys862Phe)" "" "0000524400" "00006519" "30" "2581" "0" "2581" "0" "c.2581C>T" "r.(?)" "p.(Leu861Phe)" "" "0000524403" "00006519" "30" "2578" "-2" "2578" "-1" "c.2578-2_2578-1del" "r.spl?" "p.?" "" "0000524404" "00006519" "30" "2578" "-2" "2578" "-2" "c.2578-2A>T" "r.spl?" "p.?" "" "0000524405" "00006519" "30" "2578" "-5" "2578" "-5" "c.2578-5G>T" "r.spl?" "p.?" "" "0000524407" "00006519" "30" "2578" "-6" "2578" "-6" "c.2578-6G>T" "r.(=)" "p.(=)" "" "0000524408" "00006519" "30" "2578" "-7" "2578" "-6" "c.2578-7_2578-6del" "r.(=)" "p.(=)" "" "0000524410" "00006519" "30" "2578" "-9" "2578" "-7" "c.2578-9_2578-7del" "r.(=)" "p.(=)" "" "0000524411" "00006519" "30" "2578" "-8" "2578" "-7" "c.2578-8_2578-7del" "r.(=)" "p.(=)" "" "0000524412" "00006519" "30" "2578" "-7" "2578" "-7" "c.2578-7del" "r.(=)" "p.(=)" "" "0000524413" "00006519" "30" "2432" "-2" "2432" "-2" "c.2432-2del" "r.spl?" "p.?" "" "0000524414" "00006519" "50" "2259" "3" "2259" "3" "c.2259+3A>G" "r.spl?" "p.?" "" "0000524417" "00006519" "50" "1715" "0" "1715" "0" "c.1715T>G" "r.(?)" "p.(Leu572Trp)" "" "0000524418" "00006519" "30" "1647" "0" "1647" "0" "c.1647C>G" "r.(?)" "p.(Asn549Lys)" "" "0000524419" "00006519" "30" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Thr544Ile)" "" "0000524421" "00006519" "50" "1502" "0" "1502" "0" "c.1502T>C" "r.(?)" "p.(Ile501Thr)" "" "0000524422" "00006519" "30" "1206" "0" "1206" "0" "c.1206T>A" "r.(?)" "p.(Asn402Lys)" "" "0000524424" "00006519" "50" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Ile374Thr)" "" "0000524425" "00006519" "90" "1089" "1" "1089" "1" "c.1089+1G>A" "r.spl?" "p.?" "" "0000524426" "00006519" "30" "975" "4" "975" "4" "c.975+4G>A" "r.spl?" "p.?" "" "0000524428" "00006519" "30" "894" "0" "894" "0" "c.894C>G" "r.(?)" "p.(Asn298Lys)" "" "0000524429" "00006519" "50" "633" "0" "633" "0" "c.633G>A" "r.(?)" "p.(Ser211=)" "" "0000524432" "00006519" "30" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Ile4Thr)" "" "0000592563" "00006519" "70" "10815" "0" "10815" "0" "c.10815del" "r.(?)" "p.(Pro3606Hisfs*23)" "" "0000598474" "00006519" "70" "7421" "0" "7421" "0" "c.7421dup" "r.(?)" "p.(Val2475Glyfs*80)" "" "0000609487" "00006519" "30" "12346" "0" "12346" "0" "c.12346A>G" "r.(?)" "p.(Ile4116Val)" "" "0000609505" "00006519" "30" "11016" "0" "11016" "0" "c.11016G>T" "r.(?)" "p.(Gly3672=)" "" "0000609506" "00006519" "30" "10405" "0" "10405" "0" "c.10405A>C" "r.(?)" "p.(Met3469Leu)" "" "0000609507" "00006519" "30" "9605" "5" "9605" "5" "c.9605+5G>T" "r.spl?" "p.?" "" "0000609508" "00006519" "50" "7391" "0" "7391" "0" "c.7391G>A" "r.(?)" "p.(Gly2464Asp)" "" "0000609509" "00006519" "30" "6579" "6" "6579" "6" "c.6579+6A>G" "r.(=)" "p.(=)" "" "0000609513" "00006519" "30" "6167" "0" "6167" "0" "c.6167A>T" "r.(?)" "p.(Lys2056Ile)" "" "0000609514" "00006519" "30" "6018" "0" "6018" "0" "c.6018T>C" "r.(?)" "p.(Cys2006=)" "" "0000609516" "00006519" "50" "5710" "0" "5710" "0" "c.5710T>C" "r.(?)" "p.(Cys1904Arg)" "" "0000609517" "00006519" "50" "4794" "0" "4794" "0" "c.4794C>A" "r.(?)" "p.(Asn1598Lys)" "" "0000621478" "00006519" "70" "11211" "1" "11211" "1" "c.11211+1G>A" "r.spl?" "p.?" "" "0000621480" "00006519" "90" "10384" "0" "10384" "0" "c.10384C>T" "r.(?)" "p.(Gln3462Ter)" "" "0000621482" "00006519" "50" "6839" "0" "6839" "0" "c.6839C>T" "r.(?)" "p.(Thr2280Ile)" "" "0000621483" "00006519" "50" "6736" "0" "6736" "0" "c.6736A>G" "r.(?)" "p.(Ile2246Val)" "" "0000621486" "00006519" "30" "1658" "0" "1658" "0" "c.1658A>G" "r.(?)" "p.(Lys553Arg)" "" "0000651606" "00006519" "50" "13591" "0" "13591" "0" "c.13591G>A" "r.(?)" "p.(Glu4531Lys)" "" "0000651607" "00006519" "10" "12034" "-24" "12034" "-24" "c.12034-24T>C" "r.(=)" "p.(=)" "" "0000651608" "00006519" "50" "11437" "0" "11437" "0" "c.11437C>T" "r.(?)" "p.(Arg3813Trp)" "" "0000651610" "00006519" "70" "7468" "0" "7488" "0" "c.7468_7488del" "r.(?)" "p.(Trp2490_Leu2496del)" "" "0000651611" "00006519" "50" "6956" "0" "6956" "0" "c.6956C>T" "r.(?)" "p.(Thr2319Met)" "" "0000651612" "00006519" "10" "6842" "-22" "6842" "-22" "c.6842-22A>G" "r.(=)" "p.(=)" "" "0000651613" "00006519" "50" "6752" "0" "6752" "0" "c.6752C>T" "r.(?)" "p.(Thr2251Met)" "" "0000651614" "00006519" "30" "5944" "0" "5944" "0" "c.5944G>A" "r.(?)" "p.(Ala1982Thr)" "" "0000651616" "00006519" "50" "5413" "0" "5413" "0" "c.5413C>T" "r.(?)" "p.(Arg1805Cys)" "" "0000651618" "00006519" "10" "4053" "32" "4053" "32" "c.4053+32C>T" "r.(=)" "p.(=)" "" "0000651619" "00006519" "50" "1206" "0" "1206" "0" "c.1206T>A" "r.(?)" "p.(Asn402Lys)" "" "0000653063" "00006519" "50" "9230" "0" "9230" "0" "c.9230G>T" "r.(?)" "p.(Arg3077Leu)" "" "0000653064" "00006519" "50" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Arg30Trp)" "" "0000655290" "00006519" "30" "10330" "0" "10330" "0" "c.10330C>T" "r.(?)" "p.(Leu3444=)" "" "0000655291" "00006519" "50" "8845" "0" "8845" "0" "c.8845C>G" "r.(?)" "p.(Gln2949Glu)" "" "0000655302" "00006519" "50" "1667" "0" "1667" "0" "c.1667A>G" "r.(?)" "p.(Asp556Gly)" "" "0000668175" "00006519" "90" "13432" "0" "13435" "0" "c.13432_13435del" "r.(?)" "p.(His4478Alafs*4)" "" "0000668176" "00006519" "90" "13432" "0" "13435" "0" "c.13432_13435del" "r.(?)" "p.(His4478Alafs*4)" "" "0000668177" "00006519" "90" "13432" "0" "13435" "0" "c.13432_13435del" "r.(?)" "p.(His4478Alafs*4)" "" "0000668178" "00006519" "90" "13432" "0" "13435" "0" "c.13432_13435del" "r.(?)" "p.(His4478Alafs*4)" "" "0000668179" "00006519" "90" "13432" "0" "13435" "0" "c.13432_13435del" "r.(?)" "p.(His4478Alafs*4)" "" "0000669828" "00006519" "10" "12034" "-24" "12034" "-24" "c.12034-24T>C" "r.(=)" "p.(=)" "" "0000669829" "00006519" "30" "11372" "0" "11372" "0" "c.11372C>T" "r.(?)" "p.(Thr3791Ile)" "" "0000669830" "00006519" "10" "6842" "-22" "6842" "-22" "c.6842-22A>G" "r.(=)" "p.(=)" "" "0000669832" "00006519" "10" "4053" "32" "4053" "32" "c.4053+32C>T" "r.(=)" "p.(=)" "" "0000670147" "00006519" "50" "9230" "0" "9230" "0" "c.9230G>T" "r.(?)" "p.(Arg3077Leu)" "" "0000673862" "00006519" "70" "11029" "0" "11029" "0" "c.11029G>A" "r.(?)" "p.(Val3677Met)" "" "0000673863" "00006519" "90" "10442" "0" "10442" "0" "c.10442G>A" "r.(?)" "p.(Arg3481Gln)" "" "0000677403" "00006519" "50" "9355" "0" "9355" "0" "c.9355A>G" "r.(?)" "p.(Lys3119Glu)" "" "0000677406" "00006519" "50" "3734" "0" "3734" "0" "c.3734G>A" "r.(?)" "p.(Arg1245His)" "" "0000677407" "00006519" "30" "3363" "0" "3363" "0" "c.3363T>G" "r.(?)" "p.(Ser1121=)" "" "0000689437" "00006519" "30" "6062" "-5" "6062" "-5" "c.6062-5C>T" "r.spl?" "p.?" "" "0000711127" "00006519" "70" "7455" "0" "7456" "0" "c.7455_7456dup" "r.(?)" "p.(Phe2486Cysfs*86)" "" "0000712961" "00006519" "50" "13255" "0" "13255" "0" "c.13255G>C" "r.(?)" "p.(Asp4419His)" "" "0000720184" "00006519" "50" "13777" "0" "13777" "0" "c.13777A>T" "r.(?)" "p.(Thr4593Ser)" "" "0000720185" "00006519" "50" "12596" "0" "12596" "0" "c.12596G>A" "r.(?)" "p.(Arg4199His)" "" "0000720186" "00006519" "50" "12092" "0" "12092" "0" "c.12092A>G" "r.(?)" "p.(Asp4031Gly)" "" "0000720191" "00006519" "30" "10472" "0" "10472" "0" "c.10472C>T" "r.(?)" "p.(Thr3491Met)" "" "0000720192" "00006519" "50" "10367" "0" "10367" "0" "c.10367C>T" "r.(?)" "p.(Ala3456Val)" "" "0000720193" "00006519" "30" "10074" "0" "10074" "0" "c.10074T>C" "r.(?)" "p.(Thr3358=)" "" "0000720194" "00006519" "90" "9778" "0" "9778" "0" "c.9778C>T" "r.(?)" "p.(Gln3260Ter)" "" "0000720198" "00006519" "50" "7684" "0" "7684" "0" "c.7684A>T" "r.(?)" "p.(Ile2562Phe)" "" "0000720205" "00006519" "70" "5626" "0" "5626" "0" "c.5626del" "r.(?)" "p.(Arg1876Glyfs*3)" "" "0000720206" "00006519" "90" "5563" "0" "5563" "0" "c.5563dup" "r.(?)" "p.(Ile1855Asnfs*6)" "" "0000720207" "00006519" "50" "5545" "0" "5545" "0" "c.5545G>A" "r.(?)" "p.(Ala1849Thr)" "" "0000720208" "00006519" "50" "4961" "0" "4961" "0" "c.4961G>A" "r.(?)" "p.(Arg1654Gln)" "" "0000720212" "00006519" "50" "3315" "0" "3315" "0" "c.3315C>A" "r.(?)" "p.(Asn1105Lys)" "" "0000720214" "00006519" "30" "2461" "0" "2461" "0" "c.2461A>G" "r.(?)" "p.(Asn821Asp)" "" "0000759990" "00006519" "50" "12709" "0" "12709" "0" "c.12709G>T" "r.(?)" "p.(Val4237Phe)" "" "0000760078" "00006519" "50" "8757" "0" "8757" "0" "c.8757G>C" "r.(?)" "p.(Glu2919Asp)" "" "0000801901" "00006519" "50" "13507" "0" "13507" "0" "c.13507A>C" "r.(?)" "p.(Asn4503His)" "" "0000801902" "00006519" "50" "13174" "0" "13174" "0" "c.13174T>C" "r.(?)" "p.(Phe4392Leu)" "" "0000801903" "00006519" "50" "12217" "0" "12217" "0" "c.12217G>A" "r.(?)" "p.(Val4073Met)" "" "0000801909" "00006519" "50" "9230" "0" "9230" "0" "c.9230G>A" "r.(?)" "p.(Arg3077Gln)" "" "0000801910" "00006519" "50" "8845" "0" "8845" "0" "c.8845C>G" "r.(?)" "p.(Gln2949Glu)" "" "0000801911" "00006519" "30" "7888" "-4" "7888" "-4" "c.7888-4A>G" "r.spl?" "p.?" "" "0000801915" "00006519" "30" "6957" "0" "6957" "0" "c.6957G>A" "r.(?)" "p.(Thr2319=)" "" "0000801920" "00006519" "90" "1089" "1" "1089" "1" "c.1089+1G>A" "r.spl?" "p.?" "" "0000850785" "00006519" "30" "13437" "0" "13437" "0" "c.13437C>T" "r.(?)" "p.(Cys4479=)" "" "0000850786" "00006519" "50" "11476" "0" "11476" "0" "c.11476C>T" "r.(?)" "p.(Leu3826Phe)" "" "0000850788" "00006519" "50" "10639" "0" "10639" "0" "c.10639C>T" "r.(?)" "p.(Arg3547Trp)" "" "0000850789" "00006519" "90" "8029" "0" "8029" "0" "c.8029C>T" "r.(?)" "p.(Arg2677*)" "" "0000850790" "00006519" "50" "7892" "0" "7892" "0" "c.7892C>T" "r.(?)" "p.(Thr2631Met)" "" "0000850792" "00006519" "30" "6528" "0" "6528" "0" "c.6528G>T" "r.(?)" "p.(Thr2176=)" "" "0000850798" "00006519" "50" "3650" "0" "3650" "0" "c.3650T>C" "r.(?)" "p.(Ile1217Thr)" "" "0000850799" "00006519" "30" "1329" "0" "1329" "0" "c.1329G>A" "r.(?)" "p.(Gln443=)" "" "0000850800" "00006519" "50" "676" "0" "676" "0" "c.676T>C" "r.(?)" "p.(Cys226Arg)" "" "0000859764" "00006519" "30" "12924" "0" "12924" "0" "c.12924T>C" "r.(?)" "p.(Tyr4308=)" "" "0000859777" "00006519" "50" "1710" "0" "1710" "0" "c.1710A>T" "r.(?)" "p.(Arg570Ser)" "" "0000859778" "00006519" "30" "1252" "0" "1252" "0" "c.1252G>A" "r.(?)" "p.(Ala418Thr)" "" "0000886610" "00006519" "50" "12937" "0" "12937" "0" "c.12937G>A" "r.(?)" "p.(Val4313Met)" "" "0000886612" "00006519" "50" "8897" "0" "8897" "0" "c.8897C>T" "r.(?)" "p.(Thr2966Met)" "" "0000886613" "00006519" "50" "8837" "0" "8837" "0" "c.8837G>T" "r.(?)" "p.(Arg2946Leu)" "" "0000886615" "00006519" "90" "7408" "-2" "7408" "-2" "c.7408-2A>G" "r.spl?" "p.?" "" "0000912240" "00006519" "50" "5266" "0" "5266" "0" "c.5266G>A" "r.(?)" "p.(Glu1756Lys)" "" "0000912243" "00006519" "70" "3262" "1" "3262" "1" "c.3262+1G>A" "r.spl?" "p.?" "" "0000929014" "00006519" "90" "9637" "0" "9637" "0" "c.9637del" "r.(?)" "p.(Ala3213Leufs*8)" "" "0000936389" "00006519" "10" "2868" "0" "2868" "0" "c.2868C>A" "r.(=)" "p.(=)" "" "0000948479" "00006519" "90" "13048" "0" "13048" "0" "c.13048G>T" "r.(?)" "p.(Glu4350*)" "" "0000948488" "00006519" "30" "6444" "4" "6444" "4" "c.6444+4T>C" "r.spl?" "p.?" "" "0000948489" "00006519" "50" "6410" "0" "6410" "0" "c.6410T>C" "r.(?)" "p.(Leu2137Pro)" "" "0000948490" "00006519" "70" "6304" "0" "6304" "0" "c.6304C>T" "r.(?)" "p.(Arg2102Cys)" "" "0000948492" "00006519" "90" "3905" "0" "3905" "0" "c.3905del" "r.(?)" "p.(Leu1302Argfs*19)" "" "0000963433" "00006519" "30" "12472" "0" "12472" "0" "c.12472C>T" "r.(?)" "p.(Arg4158Trp)" "" "0000963439" "00006519" "90" "7814" "0" "7814" "0" "c.7814C>A" "r.(?)" "p.(Ser2605*)" "" "0000963452" "00006519" "90" "4360" "0" "4360" "0" "c.4360C>T" "r.(?)" "p.(Arg1454*)" "" "0000963453" "00006519" "50" "3396" "0" "3396" "0" "c.3396G>C" "r.(?)" "p.(Lys1132Asn)" "" "0000971557" "00006519" "50" "1206" "0" "1206" "0" "c.1206T>A" "r.(?)" "p.(Asn402Lys)" "" "0000976551" "00006519" "50" "13775" "0" "13775" "0" "c.13775G>A" "r.(?)" "p.(Arg4592Gln)" "" "0000976553" "00006519" "50" "13175" "0" "13175" "0" "c.13175T>G" "r.(?)" "p.(Phe4392Cys)" "" "0000976554" "00006519" "50" "12722" "0" "12722" "0" "c.12722C>G" "r.(?)" "p.(Thr4241Ser)" "" "0000976555" "00006519" "50" "11320" "0" "11320" "0" "c.11320T>C" "r.(?)" "p.(Ser3774Pro)" "" "0000976556" "00006519" "50" "11132" "0" "11132" "0" "c.11132C>T" "r.(?)" "p.(Thr3711Ile)" "" "0000976557" "00006519" "50" "11128" "0" "11128" "0" "c.11128C>T" "r.(?)" "p.(Arg3710Cys)" "" "0000976560" "00006519" "50" "9481" "0" "9481" "0" "c.9481G>T" "r.(?)" "p.(Val3161Phe)" "" "0000976561" "00006519" "50" "9410" "0" "9410" "0" "c.9410G>A" "r.(?)" "p.(Cys3137Tyr)" "" "0000976564" "00006519" "50" "9368" "0" "9368" "0" "c.9368T>C" "r.(?)" "p.(Val3123Ala)" "" "0000976566" "00006519" "50" "8866" "0" "8866" "0" "c.8866G>A" "r.(?)" "p.(Gly2956Arg)" "" "0000976567" "00006519" "50" "8725" "0" "8725" "0" "c.8725C>T" "r.(?)" "p.(Arg2909Cys)" "" "0000976568" "00006519" "30" "8647" "5" "8647" "5" "c.8647+5A>C" "r.spl?" "p.?" "" "0000976569" "00006519" "70" "8476" "0" "8476" "0" "c.8476dup" "r.(?)" "p.(Cys2826Leufs*2)" "" "0000976571" "00006519" "50" "8005" "0" "8005" "0" "c.8005G>T" "r.(?)" "p.(Asp2669Tyr)" "" "0000976572" "00006519" "50" "7820" "0" "7820" "0" "c.7820A>G" "r.(?)" "p.(Tyr2607Cys)" "" "0000976578" "00006519" "70" "5177" "0" "5177" "0" "c.5177T>C" "r.(?)" "p.(Leu1726Pro)" "" "0000976579" "00006519" "50" "5105" "0" "5105" "0" "c.5105C>T" "r.(?)" "p.(Ser1702Phe)" "" "0000976580" "00006519" "50" "4960" "0" "4960" "0" "c.4960C>T" "r.(?)" "p.(Arg1654Trp)" "" "0000976581" "00006519" "10" "4807" "0" "4807" "0" "c.4807C>A" "r.(?)" "p.(Pro1603Thr)" "" "0000976582" "00006519" "30" "4797" "-10" "4797" "-10" "c.4797-10C>T" "r.(=)" "p.(=)" "" "0000976586" "00006519" "90" "3466" "0" "3466" "0" "c.3466del" "r.(?)" "p.(Ile1156Leufs*24)" "" "0000976588" "00006519" "30" "2577" "5" "2577" "5" "c.2577+5T>A" "r.spl?" "p.?" "" "0000976589" "00006519" "90" "1730" "2" "1730" "2" "c.1730+2T>C" "r.spl?" "p.?" "" "0000976590" "00006519" "30" "1335" "0" "1335" "0" "c.1335C>T" "r.(?)" "p.(=)" "" "0000976591" "00006519" "50" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Glu265Lys)" "" "0000994668" "00006519" "50" "12523" "0" "12523" "0" "c.12523G>A" "r.(?)" "p.(Val4175Met)" "" "0000994683" "00006519" "70" "5177" "0" "5177" "0" "c.5177T>C" "r.(?)" "p.(Leu1726Pro)" "" "0000994686" "00006519" "50" "2597" "0" "2597" "0" "c.2597C>T" "r.(?)" "p.(Ala866Val)" "" "0001025033" "00006519" "70" "10616" "0" "10616" "0" "c.10616G>A" "r.(?)" "p.(Arg3539His)" "" "0001025042" "00006519" "50" "4373" "0" "4373" "0" "c.4373G>A" "r.(?)" "p.(Arg1458Gln)" "" "0001025043" "00006519" "50" "4116" "0" "4116" "0" "c.4116G>C" "r.(?)" "p.(Gln1372His)" "" "0001025044" "00006519" "30" "2578" "-9" "2578" "-7" "c.2578-9_2578-7del" "r.(=)" "p.(=)" "" "0001025045" "00006519" "50" "1858" "0" "1858" "0" "c.1858C>A" "r.(?)" "p.(Gln620Lys)" "" "0001027586" "00006519" "90" "4807" "0" "4807" "0" "c.4807C>A" "r.(?)" "p.(Pro1603Thr)" "" "0001027587" "00006519" "90" "5503" "0" "5503" "0" "c.5503C>T" "r.(?)" "p.(Gln1835Ter)" "" "0001027638" "00006519" "50" "278" "-3" "278" "-3" "c.278-3T>C" "r.(?)" "p.(=)" "" "0001027639" "00006519" "10" "2053" "-23" "2053" "-23" "c.2053-23A>C" "r.spl?" "p.?" "" "0001027640" "00006519" "10" "2253" "0" "2253" "0" "c.2253C>A" "r.(?)" "p.(Asn751Lys)" "" "0001027641" "00006519" "30" "2821" "0" "2821" "0" "c.2821G>A" "r.(?)" "p.(Val941Ile)" "" "0001027642" "00006519" "30" "3471" "0" "3471" "0" "c.3471G>A" "r.(?)" "p.(Lys1157=)" "" "0001027643" "00006519" "50" "4072" "0" "4072" "0" "c.4072G>A" "r.(?)" "p.(Gly1358Ser)" "" "0001027644" "00006519" "10" "4331" "0" "4331" "0" "c.4331A>G" "r.(?)" "p.(Asn1444Ser)" "" "0001027645" "00006519" "50" "4510" "0" "4510" "0" "c.4510G>C" "r.(?)" "p.(Gly1504Arg)" "" "0001027646" "00006519" "30" "4680" "0" "4680" "0" "c.4680C>T" "r.(?)" "p.(Phe1560=)" "" "0001027647" "00006519" "30" "4687" "0" "4687" "0" "c.4687G>A" "r.(?)" "p.(Gly1563Ser)" "" "0001027648" "00006519" "50" "7238" "0" "7238" "0" "c.7238T>C" "r.(?)" "p.(Leu2413Pro)" "" "0001027649" "00006519" "30" "7619" "0" "7619" "0" "c.7619C>T" "r.(?)" "p.(Thr2540Met)" "" "0001027650" "00006519" "50" "8765" "0" "8765" "0" "c.8765G>A" "r.(?)" "p.(Arg2922His)" "" "0001027651" "00006519" "50" "12709" "0" "12709" "0" "c.12709G>T" "r.(?)" "p.(Val4237Phe)" "" "0001027652" "00006519" "30" "13492" "-15" "13492" "-15" "c.13492-15T>C" "r.(?)" "p.(=)" "" "0001027653" "00006519" "50" "-42" "0" "7887" "1" "c.(?_-42)_(7887+1_7888-1)dup" "r.?" "p.?" "_1_47i" "0001034900" "00006519" "50" "11583" "0" "11583" "0" "c.11583C>A" "r.(?)" "p.(Ser3861Arg)" "" "0001034901" "00006519" "50" "11320" "0" "11320" "0" "c.11320T>C" "r.(?)" "p.(Ser3774Pro)" "" "0001034902" "00006519" "50" "10649" "0" "10649" "0" "c.10649T>G" "r.(?)" "p.(Met3550Arg)" "" "0001034903" "00006519" "50" "10367" "0" "10367" "0" "c.10367C>T" "r.(?)" "p.(Ala3456Val)" "" "0001034910" "00006519" "30" "8537" "0" "8537" "0" "c.8537C>T" "r.(?)" "p.(Ala2846Val)" "" "0001034914" "00006519" "50" "7684" "0" "7684" "0" "c.7684A>T" "r.(?)" "p.(Ile2562Phe)" "" "0001034916" "00006519" "50" "6980" "0" "6980" "0" "c.6980C>A" "r.(?)" "p.(Ala2327Glu)" "" "0001034917" "00006519" "50" "6790" "0" "6790" "0" "c.6790A>G" "r.(?)" "p.(Ser2264Gly)" "" "0001034919" "00006519" "50" "5710" "0" "5710" "0" "c.5710T>C" "r.(?)" "p.(Cys1904Arg)" "" "0001034920" "00006519" "90" "5647" "0" "5647" "0" "c.5647C>T" "r.(?)" "p.(Arg1883Ter)" "" "0001034921" "00006519" "50" "5413" "0" "5413" "0" "c.5413C>T" "r.(?)" "p.(Arg1805Cys)" "" "0001034922" "00006519" "30" "5271" "7" "5271" "7" "c.5271+7C>T" "r.(=)" "p.(=)" "" "0001034924" "00006519" "10" "4431" "0" "4431" "0" "c.4431C>T" "r.(?)" "p.(Ser1477=)" "" "0001034925" "00006519" "90" "4348" "0" "4348" "0" "c.4348C>T" "r.(?)" "p.(Gln1450*)" "" "0001034928" "00006519" "30" "3175" "-3" "3175" "-3" "c.3175-3T>C" "r.spl?" "p.?" "" "0001034930" "00006519" "50" "1810" "0" "1810" "0" "c.1810T>C" "r.(?)" "p.(Ser604Pro)" "" "0001034931" "00006519" "50" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Arg479Cys)" "" "0001034932" "00006519" "50" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Ile374Thr)" "" "0001034934" "00006519" "70" "356" "0" "356" "0" "c.356del" "r.(?)" "p.(Asn119Thrfs*30)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{variantid}}" "0000003216" "0000021763" "0000050510" "0000079490" "0000184283" "0000408300" "0000184284" "0000408301" "0000262280" "0000592563" "0000267416" "0000598474" "0000294917" "0000651606" "0000294918" "0000651607" "0000294919" "0000651608" "0000294921" "0000651610" "0000294922" "0000651611" "0000294923" "0000651612" "0000294924" "0000651613" "0000294925" "0000651614" "0000294927" "0000651616" "0000294929" "0000651618" "0000294930" "0000651619" "0000296374" "0000653063" "0000296375" "0000653064" "0000304677" "0000668175" "0000304678" "0000668176" "0000304679" "0000668177" "0000304680" "0000668178" "0000304681" "0000668179" "0000306140" "0000669828" "0000306141" "0000669829" "0000306142" "0000669830" "0000306144" "0000669832" "0000306459" "0000670147" "0000307269" "0000673862" "0000307269" "0000673863" "0000327421" "0000711127" "0000328840" "0000712961" "0000360189" "0000759990" "0000360213" "0000760078" "0000412190" "0000971557" "0000440083" "0000936389" "0000463957" "0001027586" "0000463958" "0001027587" "0000463994" "0001027638" "0000463995" "0001027639" "0000463996" "0001027640" "0000463997" "0001027641" "0000463998" "0001027642" "0000463999" "0001027643" "0000464000" "0001027644" "0000464001" "0001027645" "0000464002" "0001027646" "0000464003" "0001027647" "0000464004" "0001027648" "0000464005" "0001027649" "0000464006" "0001027650" "0000464007" "0001027651" "0000464008" "0001027652" "0000464009" "0001027653"