### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAH8) # 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}}" "DNAH8" "dynein, axonemal, heavy chain 8" "6" "p21.2" "unknown" "NG_041805.1" "UD_132463283043" "" "https://www.LOVD.nl/DNAH8" "" "1" "2952" "1769" "603337" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DNAH8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-19 13:05:36" "00006" "2025-11-07 15:53:58" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006522" "DNAH8" "dynein, axonemal, heavy chain 8" "001" "NM_001206927.1" "" "NP_001193856.1" "" "" "" "-109" "14530" "14124" "38683117" "38998574" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06933" "SPGF46" "spermatogenic failure, type 46" "AR" "619095" "" "" "" "00006" "2022-04-14 21:17:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNAH8" "06933" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00003305" "" "" "" "1" "" "00552" "" "" "" "" "" "" "0" "" "" "" "" "00208599" "" "" "" "3" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam301" "00208600" "" "" "" "2" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam110" "00230656" "" "" "" "1" "" "01543" "{PMID:Whitfield 2019:31178125}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "France;Italy" "18GM00285" "00230657" "" "" "" "2" "" "01543" "{PMID:Whitfield 2019:31178125}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "France" "" "0" "" "" "Algeria" "18GM01974" "00230659" "" "" "" "1" "" "01543" "{PMID:Whitfield 2019:31178125}" "2-generation family, 1 affected" "M" "no" "France" "" "0" "" "" "" "18GM01926" "00294096" "" "" "" "249" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294097" "" "" "" "57" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294098" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305095" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305096" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307034" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32619401}, {DOI:Liu 2020:10.1016/j.ajhg.2020.06.004}" "2-generation family, 1 affected, unaffacted heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "FamA051" "00307035" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32619401}, {DOI:Liu 2020:10.1016/j.ajhg.2020.06.004}" "2-generation family, 1 affected, unaffacted heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "FamX003" "00307036" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32619401}, {DOI:Liu 2020:10.1016/j.ajhg.2020.06.004}" "2-generation family, 1 affected, unaffacted heterozygous carrier parents" "M" "yes" "Morocco" "" "0" "" "" "" "FamF0300" "00307038" "" "" "" "1" "" "00006" "{PMID:Yang 2020:32681648}" "2-generation family, 1 affected, unaffacted heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "patient" "00447962" "" "" "" "4" "" "00006" "{PMID:Chia 2018:29784083}" "2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs" "M" "yes" "Jordan" "" "0" "" "" "" "FamPatII1" "00447963" "" "" "00447962" "1" "" "00006" "{PMID:Chia 2018:29784083}" "affected sister" "F" "yes" "Jordan" "" "0" "" "" "" "FamPatII4" "00462327" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat12" "00462379" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462380" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00468273" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "M" "" "United States" "" "0" "" "" "non-Hispanic" "GMKF_12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00208599" "05489" "00208600" "05489" "00230656" "00201" "00230657" "00201" "00230659" "00201" "00294096" "00198" "00294097" "00198" "00294098" "00198" "00305095" "00198" "00305096" "00198" "00307034" "00201" "00307035" "00201" "00307036" "00201" "00307038" "00201" "00447962" "05611" "00447963" "05611" "00462327" "00332" "00462379" "00332" "00462380" "00332" "00468273" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00201, 00332, 05489, 05611, 06933 ## Count = 13 "{{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}}" "0000173136" "00201" "00230656" "01543" "Familial, autosomal recessive" "" "Absence of outer dynein arms in spermatozoa" "" "" "" "" "" "" "" "" "male infertility" "male infertility" "" "0000173137" "00201" "00230657" "01543" "Familial, autosomal recessive" "" "Absence of outer dynein arms in spermatozoa" "" "" "" "" "" "" "" "" "male infertility" "male infertility" "" "0000173141" "00201" "00230659" "01543" "Familial, autosomal recessive" "" "Absence of outer dynein arms in spermatozoa" "" "" "" "Absence of protiein" "" "" "" "" "male infertility" "male infertility" "" "0000232859" "00201" "00307034" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "male infertility" "" "0000232860" "00201" "00307035" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "male infertility" "" "0000232861" "00201" "00307036" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "male infertility" "" "0000232863" "00201" "00307038" "00006" "Familial, autosomal recessive" "" "see paper; ..., asthenozoospermia, multiple morphological abnormalities sperm flagella" "" "" "" "" "" "" "" "" "" "male infertility" "" "0000337152" "05611" "00447962" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental delay; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies" "" "" "" "" "" "" "" "" "MRT63" "intellectual disability" "" "0000337153" "05611" "00447963" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental delay; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies" "" "" "" "" "" "" "" "" "MRT63" "intellectual disability" "" "0000349826" "00332" "00462327" "00006" "Unknown" "" "primary ciliary dyskinesia" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349878" "00332" "00462379" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349879" "00332" "00462380" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000353425" "00198" "00468273" "00006" "Di-genic" "" "see paper; ..., heterotaxy, double outlet right ventricle, dextro-malposed great arteries, atrial septal defect, mitral atresia, ventricular septal defect, hypoplastic left ventricle; atrial situs ambiguus; right ventricular situs; right arterial situs; heterotaxy" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003226" "00003305" "1" "00552" "00552" "2013-11-05 19:53:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000209648" "00208599" "1" "03131" "03131" "2018-12-11 17:20:48" "" "" "SEQ-NG-I" "DNA" "Blood" "gene panel" "0000209649" "00208600" "1" "03131" "03131" "2018-12-11 20:17:35" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000231752" "00230656" "1" "01543" "01543" "2019-04-19 11:09:54" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000231753" "00230657" "1" "01543" "01543" "2019-04-19 11:39:14" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000231755" "00230659" "1" "01543" "01543" "2019-04-19 12:03:53" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000295264" "00294096" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295265" "00294097" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295266" "00294098" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306224" "00305095" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306225" "00305096" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308175" "00307034" "1" "00006" "00006" "2020-07-28 17:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000308176" "00307035" "1" "00006" "00006" "2020-07-28 17:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000308177" "00307036" "1" "00006" "00006" "2020-07-28 17:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000308179" "00307038" "1" "00006" "00006" "2020-07-28 17:19:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449535" "00447962" "1" "00006" "00006" "2024-02-05 12:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449536" "00447963" "1" "00006" "00006" "2024-02-05 12:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463959" "00462327" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464011" "00462379" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464012" "00462380" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000469939" "00468273" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000003226" "DNAH8" "0000231752" "DNAH17" "0000231753" "DNAH17" "0000231755" "DNAH17" "0000308175" "DNAH8" "0000308176" "DNAH8" "0000308177" "DNAH8" "0000308179" "DNAH8" ## 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 = 68 "{{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}}" "0000021772" "3" "75" "6" "38754564" "38754564" "subst" "0" "00552" "DNAH8_000001" "g.38754564C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38786788C>T" "" "likely pathogenic" "" "0000275354" "0" "50" "6" "38781883" "38781883" "subst" "0" "01943" "DNAH8_000004" "g.38781883T>C" "" "" "" "DNAH8(NM_001206927.1):c.3311T>C (p.V1104A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38814107T>C" "" "VUS" "" "0000330998" "0" "50" "6" "38705034" "38705034" "dup" "0" "01804" "DNAH8_000003" "g.38705034dup" "" "" "" "DNAH8(NM_001206927.1):c.952+1_952+2insT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38737258dup" "" "VUS" "" "0000331001" "0" "50" "6" "38877519" "38877519" "subst" "0.000329966" "01804" "DNAH8_000007" "g.38877519A>G" "" "" "" "DNAH8(NM_001206927.1):c.9739A>G (p.(Arg3247Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38909743A>G" "" "VUS" "" "0000341393" "0" "50" "6" "38890849" "38890849" "subst" "0.00224288" "02327" "DNAH8_000008" "g.38890849G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38923073G>A" "" "VUS" "" "0000348977" "0" "50" "6" "38906576" "38906576" "subst" "0.000508647" "02327" "DNAH8_000009" "g.38906576C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38938800C>A" "" "VUS" "" "0000439809" "0" "50" "6" "38980081" "38980081" "subst" "0.142817" "03131" "DNAH8_000012" "g.38980081A>G" "" "" "" "" "" "Germline" "yes" "rs10484847" "0" "" "" "g.39012305A>G" "" "VUS" "" "0000439823" "0" "50" "6" "38704943" "38704943" "subst" "0.042847" "03131" "DNAH8_000010" "g.38704943A>G" "" "" "" "" "" "Germline" "yes" "rs6935293" "0" "" "" "g.38737167A>G" "" "VUS" "" "0000439824" "0" "50" "6" "38905957" "38905957" "subst" "0.0051488" "03131" "DNAH8_000011" "g.38905957C>T" "" "" "" "" "" "Germline" "yes" "rs61757218" "0" "" "" "g.38938181C>T" "" "VUS" "" "0000487482" "1" "10" "6" "38951998" "38951998" "subst" "0.159295" "00006" "DNAH8_000019" "g.38951998C>T" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "" "" "0" "" "" "g.38984222C>T" "" "benign" "" "0000487489" "3" "10" "6" "38885011" "38885011" "del" "0.426261" "00006" "DNAH8_000013" "g.38885011del" "" "{PMID:Whitfield 2019:31178125}" "" "10141-4delA" "" "Germline" "" "" "0" "" "" "g.38917235del" "" "benign" "" "0000487490" "3" "10" "6" "38957853" "38957853" "subst" "0.392826" "00006" "DNAH8_000014" "g.38957853A>G" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "" "" "0" "" "" "g.38990077A>G" "" "benign" "" "0000487491" "3" "10" "6" "38800209" "38800209" "subst" "0.179858" "00006" "DNAH8_000015" "g.38800209T>C" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "" "" "0" "" "" "g.38832433T>C" "" "benign" "" "0000487492" "3" "10" "6" "38816574" "38816574" "subst" "0.0298464" "00006" "DNAH8_000016" "g.38816574T>C" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "" "" "0" "" "" "g.38848798T>C" "" "benign" "" "0000487493" "3" "10" "6" "38820544" "38820544" "subst" "0.0281787" "00006" "DNAH8_000017" "g.38820544C>T" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "" "" "0" "" "" "g.38852768C>T" "" "benign" "" "0000487494" "3" "10" "6" "38850809" "38850809" "subst" "0.019432" "00006" "DNAH8_000018" "g.38850809C>A" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "" "" "0" "" "" "g.38883033C>A" "" "benign" "" "0000528793" "0" "30" "6" "38820493" "38820493" "subst" "0.0102797" "01804" "DNAH8_000023" "g.38820493C>A" "" "" "" "DNAH8(NM_001206927.2):c.5490C>A (p.(Asp1830Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38852717C>A" "" "likely benign" "" "0000621708" "0" "30" "6" "38690886" "38690886" "subst" "3.73975E-5" "01943" "DNAH8_000028" "g.38690886C>T" "" "" "" "DNAH8(NM_001206927.1):c.301C>T (p.L101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38723110C>T" "" "likely benign" "" "0000621709" "0" "30" "6" "38939444" "38939444" "subst" "2.97832E-5" "01943" "DNAH8_000029" "g.38939444A>T" "" "" "" "DNAH8(NM_001206927.1):c.12525+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38971668A>T" "" "likely benign" "" "0000651953" "1" "10" "6" "38729511" "38729511" "subst" "0.130853" "03575" "DNAH8_000030" "g.38729511T>C" "249/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "249 heterozygous; {DB:CLININrs61748600}" "Germline" "" "rs61748600" "0" "" "" "g.38761735T>C" "" "benign" "" "0000651954" "1" "10" "6" "38757615" "38757615" "subst" "0.0247645" "03575" "DNAH8_000031" "g.38757615G>A" "57/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "57 heterozygous; {DB:CLININrs45529837}" "Germline" "" "rs45529837" "0" "" "" "g.38789839G>A" "" "benign" "" "0000651955" "1" "10" "6" "38820493" "38820493" "subst" "0.0102797" "03575" "DNAH8_000023" "g.38820493C>A" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs45519938}" "Germline" "" "rs45519938" "0" "" "" "g.38852717C>A" "" "benign" "" "0000669912" "3" "10" "6" "38729511" "38729511" "subst" "0.130853" "03575" "DNAH8_000030" "g.38729511T>C" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 homozygous; {DB:CLININrs61748600}" "Germline" "" "rs61748600" "0" "" "" "g.38761735T>C" "" "benign" "" "0000669913" "3" "10" "6" "38757615" "38757615" "subst" "0.0247645" "03575" "DNAH8_000031" "g.38757615G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs45529837}" "Germline" "" "rs45529837" "0" "" "" "g.38789839G>A" "" "benign" "" "0000675020" "11" "90" "6" "38905957" "38905957" "subst" "0.0051488" "00006" "DNAH8_000011" "g.38905957C>T" "" "{PMID:Liu 2020:32619401}, {DOI:Liu 2020:10.1016/j.ajhg.2020.06.004}" "" "" "" "Germline" "" "" "0" "" "" "g.38938181C>T" "" "pathogenic (recessive)" "" "0000675021" "11" "90" "6" "38875810" "38875810" "subst" "9.38523E-5" "00006" "DNAH8_000034" "g.38875810C>T" "" "{PMID:Liu 2020:32619401}, {DOI:Liu 2020:10.1016/j.ajhg.2020.06.004}" "" "" "" "Germline" "" "" "0" "" "" "g.38908034C>T" "" "pathogenic (recessive)" "" "0000675022" "3" "90" "6" "38838310" "38838316" "del" "0" "00006" "DNAH8_000032" "g.38838310_38838316del" "" "{PMID:Liu 2020:32619401}, {DOI:Liu 2020:10.1016/j.ajhg.2020.06.004}" "" "" "" "Germline" "" "" "0" "" "" "g.38870534_38870540del" "" "pathogenic (recessive)" "" "0000675023" "21" "90" "6" "38834648" "38834648" "subst" "0" "00006" "DNAH8_000033" "g.38834648A>G" "" "{PMID:Liu 2020:32619401}, {DOI:Liu 2020:10.1016/j.ajhg.2020.06.004}" "" "" "" "Germline" "" "" "0" "" "" "g.38866872A>G" "" "pathogenic (recessive)" "" "0000675024" "21" "90" "6" "38942192" "38942192" "subst" "0.000406385" "00006" "DNAH8_000035" "g.38942192G>A" "" "{PMID:Liu 2020:32619401}, {DOI:Liu 2020:10.1016/j.ajhg.2020.06.004}" "" "" "" "Germline" "" "" "0" "" "" "g.38974416G>A" "" "pathogenic (recessive)" "" "0000675026" "3" "90" "6" "38690965" "38690966" "del" "0" "00006" "DNAH8_000036" "g.38690965_38690966del" "" "{PMID:Yang 2020:32681648}" "" "378_379del" "" "Germline" "" "" "0" "" "" "g.38723189_38723190del" "" "pathogenic (recessive)" "" "0000677773" "0" "50" "6" "38690850" "38690850" "subst" "4.15628E-6" "01943" "DNAH8_000037" "g.38690850G>A" "" "" "" "DNAH8(NM_001206927.1):c.265G>A (p.A89T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677774" "0" "50" "6" "38729487" "38729491" "del" "0" "01943" "DNAH8_000038" "g.38729487_38729491del" "" "" "" "DNAH8(NM_001206927.1):c.1525_1529delCAAAT (p.Q509Gfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677775" "0" "30" "6" "38819360" "38819360" "subst" "1.2619E-5" "01943" "DNAH8_000039" "g.38819360G>C" "" "" "" "DNAH8(NM_001206927.1):c.5376G>C (p.K1792N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677776" "0" "50" "6" "38840498" "38840498" "subst" "4.06709E-6" "01943" "DNAH8_000040" "g.38840498A>C" "" "" "" "DNAH8(NM_001206927.1):c.7177A>C (p.N2393H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720920" "0" "50" "6" "38704952" "38704952" "subst" "8.98586E-6" "01943" "DNAH8_000041" "g.38704952C>T" "" "" "" "DNAH8(NM_001206927.1):c.872C>T (p.A291V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720921" "0" "50" "6" "38747813" "38747813" "subst" "4.06782E-6" "01943" "DNAH8_000042" "g.38747813A>G" "" "" "" "DNAH8(NM_001206927.1):c.2111A>G (p.Y704C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720922" "0" "50" "6" "38781861" "38781861" "subst" "9.42013E-5" "01943" "DNAH8_000043" "g.38781861A>G" "" "" "" "DNAH8(NM_001206927.1):c.3289A>G (p.I1097V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720923" "0" "50" "6" "38899686" "38899686" "subst" "3.28065E-5" "01943" "DNAH8_000044" "g.38899686A>G" "" "" "" "DNAH8(NM_001206927.1):c.11374A>G (p.K3792E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720924" "0" "50" "6" "38906651" "38906652" "del" "0" "01943" "DNAH8_000045" "g.38906651_38906652del" "" "" "" "DNAH8(NM_001206927.1):c.11894_11895delCT (p.S3965Cfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720925" "0" "50" "6" "38906737" "38906737" "subst" "0" "01943" "DNAH8_000046" "g.38906737C>T" "" "" "" "DNAH8(NM_001206927.1):c.11980C>T (p.H3994Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802584" "0" "50" "6" "38825388" "38825388" "subst" "8.13809E-6" "01943" "DNAH8_000047" "g.38825388A>T" "" "" "" "DNAH8(NM_001206927.1):c.5828A>T (p.N1943I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851221" "0" "50" "6" "38838204" "38838204" "subst" "0.00118845" "02325" "DNAH8_000048" "g.38838204A>G" "" "" "" "DNAH8(NM_001206927.2):c.6856A>G (p.S2286G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851222" "0" "50" "6" "38851736" "38851738" "del" "0" "02329" "DNAH8_000049" "g.38851736_38851738del" "" "" "" "DNAH8(NM_001206927.1):c.8221_8223delGAT (p.D2741del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851223" "0" "50" "6" "38897350" "38897350" "subst" "0.00120471" "02325" "DNAH8_000050" "g.38897350C>T" "" "" "" "DNAH8(NM_001206927.2):c.11182C>T (p.P3728S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851224" "0" "50" "6" "38998103" "38998103" "subst" "0.000511654" "02325" "DNAH8_000052" "g.38998103C>T" "" "" "" "DNAH8(NM_001206927.1):c.14059C>T (p.R4687*), DNAH8(NM_001206927.2):c.14059C>T (p.R4687*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851225" "0" "50" "6" "38998103" "38998103" "subst" "0.000511654" "02329" "DNAH8_000052" "g.38998103C>T" "" "" "" "DNAH8(NM_001206927.1):c.14059C>T (p.R4687*), DNAH8(NM_001206927.2):c.14059C>T (p.R4687*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860338" "0" "50" "6" "38998040" "38998040" "subst" "1.62425E-5" "01943" "DNAH8_000051" "g.38998040G>T" "" "" "" "DNAH8(NM_001206927.1):c.13996G>T (p.V4666L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912511" "0" "50" "6" "38690969" "38690969" "subst" "0.000307172" "02325" "DNAH8_000002" "g.38690969G>C" "" "" "" "DNAH8(NM_001206927.2):c.384G>C (p.E128D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912512" "0" "50" "6" "38893916" "38893916" "subst" "1.21993E-5" "02325" "DNAH8_000053" "g.38893916C>T" "" "" "" "DNAH8(NM_001206927.2):c.11048C>T (p.P3683L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948705" "0" "50" "6" "38749064" "38749064" "subst" "0.00132121" "02325" "DNAH8_000054" "g.38749064C>G" "" "" "" "DNAH8(NM_001206927.2):c.2174C>G (p.(Ala725Gly), p.A725G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948706" "0" "50" "6" "38820533" "38820533" "subst" "0" "02327" "DNAH8_000055" "g.38820533C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948707" "0" "70" "6" "38867683" "38867683" "subst" "7.60008E-5" "02327" "DNAH8_000056" "g.38867683G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948708" "0" "50" "6" "38885112" "38885112" "subst" "0" "02325" "DNAH8_000057" "g.38885112A>G" "" "" "" "DNAH8(NM_001206927.2):c.10238A>G (p.K3413R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000959875" "3" "50" "6" "38704952" "38704952" "subst" "9.88444E-5" "00006" "DNAH8_000058" "g.38704952C>A" "" "{PMID:Chia 2018:29784083}" "" "DNAH8 221C>A" "" "Germline" "" "" "0" "" "" "g.38737176C>A" "" "likely benign" "" "0000959948" "3" "50" "6" "38704952" "38704952" "subst" "9.88444E-5" "00006" "DNAH8_000058" "g.38704952C>A" "" "{PMID:Chia 2018:29784083}" "" "DNAH8 221C>A" "" "Germline" "" "" "0" "" "" "g.38737176C>A" "" "likely benign" "" "0000977223" "0" "50" "6" "38791393" "38791393" "subst" "8.54416E-5" "01804" "DNAH8_000059" "g.38791393A>G" "" "" "" "DNAH8(NM_001206927.2):c.3776A>G (p.(Tyr1259Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977224" "0" "50" "6" "38897445" "38897445" "subst" "0" "01804" "DNAH8_000060" "g.38897445G>T" "" "" "" "DNAH8(NM_001206927.2):c.11274+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977225" "0" "30" "6" "38897452" "38897452" "subst" "0" "01804" "DNAH8_000061" "g.38897452G>T" "" "" "" "DNAH8(NM_001206927.2):c.11274+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977226" "0" "50" "6" "38950201" "38950201" "subst" "0" "01804" "DNAH8_000062" "g.38950201T>A" "" "" "" "DNAH8(NM_001206927.2):c.12914T>A (p.(Phe4305Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014216" "0" "50" "6" "38790793" "38790793" "subst" "7.09522E-5" "02327" "DNAH8_000063" "g.38790793C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014217" "0" "50" "6" "38840444" "38840444" "subst" "0.000817545" "02327" "DNAH8_000064" "g.38840444A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027588" "1" "30" "6" "38781861" "38781861" "subst" "9.42013E-5" "00006" "DNAH8_000043" "g.38781861A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.38814085A>G" "" "likely benign" "" "0001027600" "2" "30" "6" "38825349" "38825349" "subst" "3.66253E-5" "00006" "DNAH8_000065" "g.38825349G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.38857573G>A" "" "likely benign" "" "0001027655" "0" "50" "6" "38702307" "38702307" "subst" "0" "00006" "DNAH8_000066" "g.38702307T>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs1554195443" "0" "" "" "g.38734531T>C" "" "VUS" "" "0001027656" "0" "30" "6" "38773283" "38773283" "subst" "0" "00006" "DNAH8_000067" "g.38773283A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs865933270" "0" "" "" "g.38805507A>G" "" "likely benign" "" "0001035753" "0" "30" "6" "38749064" "38749064" "subst" "0.00132121" "01804" "DNAH8_000054" "g.38749064C>G" "" "" "" "DNAH8(NM_001206927.2):c.2174C>G (p.(Ala725Gly), p.A725G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052339" "0" "50" "6" "38941528" "38941528" "subst" "0.000143606" "01804" "DNAH8_000068" "g.38941528A>C" "" "" "" "DNAH8(NM_001206927.2):c.12617A>C (p.(Asp4206Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058015" "1" "70" "6" "38843520" "38843520" "subst" "0.000516344" "00006" "DNAH8_000069" "g.38843520C>T" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.38875744C>T" "" "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 DNAH8 ## Count = 68 "{{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}}" "0000021772" "00006522" "75" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Arg807*)" "?" "0000275354" "00006522" "50" "3311" "0" "3311" "0" "c.3311T>C" "r.(?)" "p.(Val1104Ala)" "" "0000330998" "00006522" "50" "952" "2" "952" "2" "c.952+2dup" "r.spl?" "p.?" "" "0000331001" "00006522" "50" "9739" "0" "9739" "0" "c.9739A>G" "r.(?)" "p.(Arg3247Gly)" "" "0000341393" "00006522" "50" "10678" "0" "10678" "0" "c.10678G>A" "r.(?)" "p.(Ala3560Thr)" "" "0000348977" "00006522" "50" "11819" "0" "11819" "0" "c.11819C>A" "r.(?)" "p.(Ser3940Tyr)" "" "0000439809" "00006522" "50" "13462" "0" "13462" "0" "c.13462A>G" "r.(?)" "p.(Ile4488Val)" "" "0000439823" "00006522" "50" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Asn288Ser)" "" "0000439824" "00006522" "50" "11771" "0" "11771" "0" "c.11771C>T" "r.(?)" "p.(Thr3924Met)" "" "0000487482" "00006522" "10" "12968" "0" "12968" "0" "c.12968C>T" "r.(?)" "p.(Thr4323Met)" "" "0000487489" "00006522" "10" "10141" "-4" "10141" "-4" "c.10141-4del" "r.(?)" "p.(=)" "" "0000487490" "00006522" "10" "13119" "0" "13119" "0" "c.13119A>G" "r.(=)" "p.(Leu4373=)" "" "0000487491" "00006522" "10" "4300" "0" "4300" "0" "c.4300T>C" "r.(=)" "p.(.Leu4373=)" "" "0000487492" "00006522" "10" "5196" "0" "5196" "0" "c.5196T>C" "r.(=)" "p.(Pro1732=)" "" "0000487493" "00006522" "10" "5541" "0" "5541" "0" "c.5541C>T" "r.(?)" "p.(Ala1847=)" "" "0000487494" "00006522" "10" "7982" "0" "7982" "0" "c.7982C>A" "r.(?)" "p.(Thr2661Asn)" "" "0000528793" "00006522" "30" "5490" "0" "5490" "0" "c.5490C>A" "r.(?)" "p.(Asp1830Glu)" "" "0000621708" "00006522" "30" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Leu101=)" "" "0000621709" "00006522" "30" "12525" "3" "12525" "3" "c.12525+3A>T" "r.spl?" "p.?" "" "0000651953" "00006522" "10" "1549" "0" "1549" "0" "c.1549T>C" "r.(?)" "p.(Tyr517His)" "" "0000651954" "00006522" "10" "2620" "0" "2620" "0" "c.2620G>A" "r.(?)" "p.(Val874Met)" "" "0000651955" "00006522" "10" "5490" "0" "5490" "0" "c.5490C>A" "r.(?)" "p.(Asp1830Glu)" "" "0000669912" "00006522" "10" "1549" "0" "1549" "0" "c.1549T>C" "r.(?)" "p.(Tyr517His)" "" "0000669913" "00006522" "10" "2620" "0" "2620" "0" "c.2620G>A" "r.(?)" "p.(Val874Met)" "" "0000675020" "00006522" "90" "11771" "0" "11771" "0" "c.11771C>T" "r.(?)" "p.(Thr3924Met)" "" "0000675021" "00006522" "90" "9427" "0" "9427" "0" "c.9427C>T" "r.(?)" "p.(Arg3143Cys)" "" "0000675022" "00006522" "90" "6962" "0" "6968" "0" "c.6962_6968del" "r.(?)" "p.(His2321Profs*4)" "" "0000675023" "00006522" "90" "6689" "0" "6689" "0" "c.6689A>G" "r.(?)" "p.(Lys2230Arg)" "" "0000675024" "00006522" "90" "12721" "0" "12721" "0" "c.12721G>A" "r.(?)" "p.(Ala4241Thr)" "" "0000675026" "00006522" "90" "380" "0" "381" "0" "c.380_381del" "r.(?)" "p.(Lys127Argfs*7)" "" "0000677773" "00006522" "50" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Ala89Thr)" "" "0000677774" "00006522" "50" "1525" "0" "1529" "0" "c.1525_1529del" "r.(?)" "p.(Gln509GlyfsTer5)" "" "0000677775" "00006522" "30" "5376" "0" "5376" "0" "c.5376G>C" "r.(?)" "p.(Lys1792Asn)" "" "0000677776" "00006522" "50" "7177" "0" "7177" "0" "c.7177A>C" "r.(?)" "p.(Asn2393His)" "" "0000720920" "00006522" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ala291Val)" "" "0000720921" "00006522" "50" "2111" "0" "2111" "0" "c.2111A>G" "r.(?)" "p.(Tyr704Cys)" "" "0000720922" "00006522" "50" "3289" "0" "3289" "0" "c.3289A>G" "r.(?)" "p.(Ile1097Val)" "" "0000720923" "00006522" "50" "11374" "0" "11374" "0" "c.11374A>G" "r.(?)" "p.(Lys3792Glu)" "" "0000720924" "00006522" "50" "11894" "0" "11895" "0" "c.11894_11895del" "r.(?)" "p.(Ser3965Cysfs*21)" "" "0000720925" "00006522" "50" "11980" "0" "11980" "0" "c.11980C>T" "r.(?)" "p.(His3994Tyr)" "" "0000802584" "00006522" "50" "5828" "0" "5828" "0" "c.5828A>T" "r.(?)" "p.(Asn1943Ile)" "" "0000851221" "00006522" "50" "6856" "0" "6856" "0" "c.6856A>G" "r.(?)" "p.(Ser2286Gly)" "" "0000851222" "00006522" "50" "8221" "0" "8223" "0" "c.8221_8223del" "r.(?)" "p.(Asp2741del)" "" "0000851223" "00006522" "50" "11182" "0" "11182" "0" "c.11182C>T" "r.(?)" "p.(Pro3728Ser)" "" "0000851224" "00006522" "50" "14059" "0" "14059" "0" "c.14059C>T" "r.(?)" "p.(Arg4687*)" "" "0000851225" "00006522" "50" "14059" "0" "14059" "0" "c.14059C>T" "r.(?)" "p.(Arg4687*)" "" "0000860338" "00006522" "50" "13996" "0" "13996" "0" "c.13996G>T" "r.(?)" "p.(Val4666Leu)" "" "0000912511" "00006522" "50" "384" "0" "384" "0" "c.384G>C" "r.(?)" "p.(Glu128Asp)" "" "0000912512" "00006522" "50" "11048" "0" "11048" "0" "c.11048C>T" "r.(?)" "p.(Pro3683Leu)" "" "0000948705" "00006522" "50" "2174" "0" "2174" "0" "c.2174C>G" "r.(?)" "p.(Ala725Gly)" "" "0000948706" "00006522" "50" "5530" "0" "5530" "0" "c.5530C>A" "r.(?)" "p.(Arg1844Ser)" "" "0000948707" "00006522" "70" "9194" "1" "9194" "1" "c.9194+1G>A" "r.spl?" "p.?" "" "0000948708" "00006522" "50" "10238" "0" "10238" "0" "c.10238A>G" "r.(?)" "p.(Lys3413Arg)" "" "0000959875" "00006522" "50" "872" "0" "872" "0" "c.872C>A" "r.(?)" "p.(Ala291Asp)" "" "0000959948" "00006522" "50" "872" "0" "872" "0" "c.872C>A" "r.(?)" "p.(Ala291Asp)" "" "0000977223" "00006522" "50" "3776" "0" "3776" "0" "c.3776A>G" "r.(?)" "p.(Tyr1259Cys)" "" "0000977224" "00006522" "50" "11274" "3" "11274" "3" "c.11274+3G>T" "r.spl?" "p.?" "" "0000977225" "00006522" "30" "11274" "10" "11274" "10" "c.11274+10G>T" "r.(=)" "p.(=)" "" "0000977226" "00006522" "50" "12914" "0" "12914" "0" "c.12914T>A" "r.(?)" "p.(Phe4305Tyr)" "" "0001014216" "00006522" "50" "3703" "0" "3703" "0" "c.3703C>T" "r.(?)" "p.(Arg1235Cys)" "" "0001014217" "00006522" "50" "7123" "0" "7123" "0" "c.7123A>C" "r.(?)" "p.(Asn2375His)" "" "0001027588" "00006522" "30" "3289" "0" "3289" "0" "c.3289A>G" "r.(?)" "p.(Ile1097Val)" "" "0001027600" "00006522" "30" "5789" "0" "5789" "0" "c.5789G>A" "r.(?)" "p.(Arg1930His)" "" "0001027655" "00006522" "50" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Ile223Thr)" "" "0001027656" "00006522" "30" "3061" "0" "3061" "0" "c.3061A>G" "r.(?)" "p.(Ser1021Gly)" "" "0001035753" "00006522" "30" "2174" "0" "2174" "0" "c.2174C>G" "r.(?)" "p.(Ala725Gly)" "" "0001052339" "00006522" "50" "12617" "0" "12617" "0" "c.12617A>C" "r.(?)" "p.(Asp4206Ala)" "" "0001058015" "00006522" "70" "7774" "0" "7774" "0" "c.7774C>T" "r.(?)" "p.(Arg2592Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000003226" "0000021772" "0000209648" "0000439809" "0000209649" "0000439823" "0000209649" "0000439824" "0000231752" "0000487489" "0000231752" "0000487490" "0000231753" "0000487491" "0000231753" "0000487492" "0000231753" "0000487493" "0000231753" "0000487494" "0000231755" "0000487482" "0000295264" "0000651953" "0000295265" "0000651954" "0000295266" "0000651955" "0000306224" "0000669912" "0000306225" "0000669913" "0000308175" "0000675020" "0000308175" "0000675023" "0000308176" "0000675021" "0000308176" "0000675024" "0000308177" "0000675022" "0000308179" "0000675026" "0000449535" "0000959875" "0000449536" "0000959948" "0000463959" "0001027588" "0000463959" "0001027600" "0000464011" "0001027655" "0000464012" "0001027656" "0000469939" "0001058015"