### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAI1) # 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}}" "DNAI1" "dynein, axonemal, intermediate chain 1" "9" "p13.3" "unknown" "NG_008127.1" "UD_131712525035" "" "https://www.LOVD.nl/DNAI1" "" "1" "2954" "27019" "604366" "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/DNAI1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-23 14:40:26" "00000" "2025-11-01 13:22:20" ## 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}}" "00025330" "DNAI1" "transcript variant 1" "002" "NM_012144.3" "" "NP_036276.1" "" "" "" "-254" "2333" "2100" "34458750" "34520987" "00006" "2018-10-23 14:41:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "01878" "CILD1" "dyskinesia, ciliary, primary, type 1 (CILD-1, Kartagener syndrome)" "AR" "244400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05128" "HTX" "heterotaxy, visceral (HTX, situs inversus/situs ambiguus)" "" "" "" "" "" "00006" "2016-01-31 12:35:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNAI1" "01878" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00003299" "" "" "" "1" "" "00552" "" "" "" "" "" "" "0" "" "" "" "" "00183328" "" "" "" "1" "" "02596" "" "" "" "" "" "" "0" "" "" "Tunisian" "17GM00024" "00294847" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300281" "" "" "" "1" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "M" "no" "France" "00y" "0" "" "" "" "Pt6428" "00326207" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00460925" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00460926" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00462395" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462396" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462397" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462398" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462399" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462400" "" "" "" "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 = 13 "{{individualid}}" "{{diseaseid}}" "00183328" "00332" "00294847" "00198" "00300281" "00152" "00300281" "05128" "00326207" "00198" "00460925" "00198" "00460926" "00198" "00462395" "00332" "00462396" "00332" "00462397" "00332" "00462398" "00332" "00462399" "00332" "00462400" "00332" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00332, 01878, 05128 ## Count = 9 "{{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}}" "0000144066" "00332" "00183328" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000227587" "05128" "00300281" "01195" "Familial, autosomal recessive" "00y" "Left Superior Vena Cava, single atrium, complete AV canal, double outlet right ventricle, sub-valvar pulmonary stenosis, valvar pulmonary stenosis, right aortic arch, right pulmonary isomerism, intestinal malrotation" "00y" "00y" "00y" "" "" "" "" "" "" "" "" "0000244668" "00198" "00326207" "02551" "Unknown" "" "Ciliary dyskinesia (HP:0012265)" "" "" "" "" "" "" "" "" "" "" "" "0000349894" "00332" "00462395" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349895" "00332" "00462396" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349896" "00332" "00462397" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349897" "00332" "00462398" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349898" "00332" "00462399" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349899" "00332" "00462400" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003219" "00003299" "1" "00552" "00552" "2013-11-05 19:32:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000184289" "00183328" "1" "02596" "02596" "2018-10-23 00:37:57" "" "" "SEQ-NG" "DNA" "" "" "0000296015" "00294847" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301399" "00300281" "1" "01195" "01195" "2020-04-26 15:39:17" "" "" "SEQ;SEQ-NG-I" "DNA" "Amniocentesis" "Panel of 461 genes" "0000327421" "00326207" "1" "02551" "02551" "2021-01-11 10:28:10" "00001" "2021-01-11 10:28:53" "SEQ" "DNA" "" "" "0000462557" "00460925" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "amniocytes" "mRNA splicing analysis on tissue" "0000462558" "00460926" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "amniocytes" "mRNA splicing analysis on tissue" "0000464027" "00462395" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464028" "00462396" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464029" "00462397" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464030" "00462398" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464031" "00462399" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464032" "00462400" "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 = 4 "{{screeningid}}" "{{geneid}}" "0000003219" "DNAI1" "0000184289" "DNAI1" "0000462557" "DNAI1" "0000462558" "DNAI1" ## 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 = 54 "{{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}}" "0000021766" "3" "50" "9" "34514434" "34514434" "subst" "7.72113E-5" "00552" "DNAI1_000001" "g.34514434G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.34514436G>A" "" "VUS" "" "0000253457" "0" "10" "9" "34489437" "34489437" "subst" "0.0323203" "01943" "DNAI1_000005" "g.34489437A>G" "" "" "" "DNAI1(NM_012144.3):c.378A>G (p.E126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34489439A>G" "" "benign" "" "0000267469" "0" "10" "9" "34500821" "34500821" "subst" "0.153008" "02325" "DNAI1_000006" "g.34500821G>A" "" "" "" "DNAI1(NM_012144.3):c.1003G>A (p.V335I), DNAI1(NM_012144.4):c.1003G>A (p.V335I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34500823G>A" "" "benign" "" "0000275357" "0" "10" "9" "34500821" "34500821" "subst" "0.153008" "01943" "DNAI1_000006" "g.34500821G>A" "" "" "" "DNAI1(NM_012144.3):c.1003G>A (p.V335I), DNAI1(NM_012144.4):c.1003G>A (p.V335I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34500823G>A" "" "benign" "" "0000275359" "0" "10" "9" "34512393" "34512393" "subst" "0.0341119" "01943" "DNAI1_000008" "g.34512393T>G" "" "" "" "DNAI1(NM_012144.3):c.1460T>G (p.V487G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34512395T>G" "" "benign" "" "0000275360" "0" "30" "9" "34514433" "34514433" "subst" "5.28223E-5" "01943" "DNAI1_000010" "g.34514433C>T" "" "" "" "DNAI1(NM_012144.3):c.1611C>T (p.D537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34514435C>T" "" "likely benign" "" "0000275361" "0" "10" "9" "34485237" "34485237" "subst" "0.00589606" "01943" "DNAI1_000004" "g.34485237C>T" "" "" "" "DNAI1(NM_012144.3):c.179C>T (p.A60V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34485239C>T" "" "benign" "" "0000275362" "0" "10" "9" "34459025" "34459025" "subst" "0.0553105" "01943" "DNAI1_000002" "g.34459025G>T" "" "" "" "DNAI1(NM_012144.3):c.22G>T (p.A8S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34459027G>T" "" "benign" "" "0000408306" "3" "70" "9" "34458870" "34459086" "del" "0" "02596" "DNAI1_000011" "g.34458870_34459086del" "" "" "" "-134_48+35del217" "" "Germline" "" "" "0" "" "" "g.34458872_34459088del" "" "likely pathogenic" "" "0000538012" "0" "90" "9" "34459053" "34459053" "dup" "0" "01943" "FAM219A_000001" "g.34459053dup" "" "" "" "DNAI1(NM_001281428.1):c.48+2dup (p.?), DNAI1(NM_001281428.1):c.48+2dupT, DNAI1(NM_001281428.2):c.48+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34459055dup" "" "pathogenic" "" "0000538013" "0" "90" "9" "34459053" "34459053" "dup" "0" "02325" "FAM219A_000001" "g.34459053dup" "" "" "" "DNAI1(NM_001281428.1):c.48+2dup (p.?), DNAI1(NM_001281428.1):c.48+2dupT, DNAI1(NM_001281428.2):c.48+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34459055dup" "" "pathogenic" "" "0000538014" "0" "90" "9" "34459053" "34459053" "dup" "0" "02329" "FAM219A_000001" "g.34459053dup" "" "" "" "DNAI1(NM_001281428.1):c.48+2dup (p.?), DNAI1(NM_001281428.1):c.48+2dupT, DNAI1(NM_001281428.2):c.48+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34459055dup" "" "pathogenic" "" "0000538015" "0" "90" "9" "34459053" "34459053" "dup" "0" "01804" "FAM219A_000001" "g.34459053dup" "" "" "" "DNAI1(NM_001281428.1):c.48+2dup (p.?), DNAI1(NM_001281428.1):c.48+2dupT, DNAI1(NM_001281428.2):c.48+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34459055dup" "" "pathogenic" "" "0000538016" "0" "90" "9" "34485184" "34485184" "subst" "0" "02329" "DNAI1_000012" "g.34485184G>A" "" "" "" "DNAI1(NM_001281428.2):c.126G>A (p.W42*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34485186G>A" "" "pathogenic" "" "0000538018" "0" "50" "9" "34489429" "34489429" "subst" "0.000389864" "02325" "DNAI1_000014" "g.34489429C>T" "" "" "" "DNAI1(NM_001281428.1):c.370C>T (p.(Arg124Cys)), DNAI1(NM_001281428.2):c.370C>T (p.R124C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34489431C>T" "" "VUS" "" "0000538020" "0" "50" "9" "34506724" "34506724" "subst" "4.06405E-6" "02329" "DNAI1_000016" "g.34506724G>T" "" "" "" "DNAI1(NM_001281428.2):c.1175G>T (p.C392F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34506726G>T" "" "VUS" "" "0000538021" "0" "90" "9" "34506792" "34506792" "del" "0" "02329" "DNAI1_000017" "g.34506792del" "" "" "" "DNAI1(NM_001281428.2):c.1243delT (p.Y415Tfs*56)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34506794del" "" "pathogenic" "" "0000538022" "0" "30" "9" "34512199" "34512199" "subst" "1.21819E-5" "01943" "DNAI1_000018" "g.34512199G>A" "" "" "" "DNAI1(NM_001281428.1):c.1413+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34512201G>A" "" "likely benign" "" "0000538023" "0" "50" "9" "34514450" "34514450" "subst" "0" "02329" "DNAI1_000019" "g.34514450T>C" "" "" "" "DNAI1(NM_001281428.2):c.1640T>C (p.V547A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34514452T>C" "" "VUS" "" "0000538025" "0" "70" "9" "34520699" "34520699" "subst" "0.000121038" "01804" "ENHO_000002" "g.34520699T>C" "" "" "" "DNAI1(NM_012144.2):c.2045T>C (p.(Ile682Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34520701T>C" "" "likely pathogenic" "" "0000612085" "0" "90" "9" "34459053" "34459053" "dup" "0" "02327" "FAM219A_000001" "g.34459053dup" "" "" "" "DNAI1(NM_001281428.1):c.48+2dup (p.?), DNAI1(NM_001281428.1):c.48+2dupT, DNAI1(NM_001281428.2):c.48+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34459055dup" "" "pathogenic" "" "0000612086" "0" "50" "9" "34512417" "34512417" "subst" "8.13729E-6" "01943" "DNAI1_000020" "g.34512417C>T" "" "" "" "DNAI1(NM_001281428.1):c.1496C>T (p.P499L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34512419C>T" "" "VUS" "" "0000612087" "0" "90" "9" "34513108" "34513108" "subst" "4.06088E-6" "02327" "DNAI1_000021" "g.34513108A>G" "" "" "" "DNAI1(NM_001281428.2):c.1502-2A>G, DNAI1(NM_012144.4):c.1490-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34513110A>G" "" "pathogenic" "" "0000652704" "1" "50" "9" "34520699" "34520699" "subst" "0.000121038" "03575" "ENHO_000002" "g.34520699T>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs138460682}" "Germline" "" "rs138460682" "0" "" "" "g.34520701T>C" "" "VUS" "" "0000664331" "11" "70" "9" "34459053" "34459053" "dup" "0" "01195" "FAM219A_000001" "g.34459053dup" "" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "yes" "rs1435805945" "" "" "" "g.34459055dup" "" "pathogenic" "" "0000664332" "21" "70" "9" "34501180" "34501180" "subst" "0" "01195" "DNAI1_000022" "g.34501180G>A" "1/80 patients" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "" "" "" "g.34501182G>A" "" "pathogenic" "" "0000678665" "0" "50" "9" "34489429" "34489429" "subst" "0.000389864" "01804" "DNAI1_000014" "g.34489429C>T" "" "" "" "DNAI1(NM_001281428.1):c.370C>T (p.(Arg124Cys)), DNAI1(NM_001281428.2):c.370C>T (p.R124C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000711128" "0" "50" "9" "34493267" "34493267" "subst" "0" "02551" "DNAI1_000023" "g.34493267C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000722495" "0" "30" "9" "34517354" "34517354" "subst" "1.21855E-5" "01943" "ENHO_000003" "g.34517354C>T" "" "" "" "DNAI1(NM_001281428.1):c.1902C>T (p.N634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804104" "0" "90" "9" "34493324" "34493324" "subst" "4.0665E-6" "02329" "DNAI1_000024" "g.34493324C>T" "" "" "" "DNAI1(NM_001281428.2):c.826C>T (p.Q276*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804105" "0" "90" "9" "34501180" "34501180" "subst" "0" "02327" "DNAI1_000022" "g.34501180G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804106" "0" "50" "9" "34506729" "34506729" "subst" "0" "02329" "DNAI1_000025" "g.34506729G>T" "" "" "" "DNAI1(NM_001281428.1):c.1180G>T (p.D394Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804107" "0" "90" "9" "34513108" "34513108" "subst" "4.06088E-6" "02329" "DNAI1_000021" "g.34513108A>G" "" "" "" "DNAI1(NM_001281428.2):c.1502-2A>G, DNAI1(NM_012144.4):c.1490-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852259" "0" "50" "9" "34506786" "34506786" "subst" "4.06455E-6" "01943" "DNAI1_000026" "g.34506786G>A" "" "" "" "DNAI1(NM_001281428.1):c.1237G>A (p.A413T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852260" "0" "30" "9" "34517341" "34517341" "subst" "0.000621784" "01943" "ENHO_000004" "g.34517341C>T" "" "" "" "DNAI1(NM_001281428.1):c.1889C>T (p.A630V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888822" "0" "90" "9" "34512364" "34512364" "del" "0" "02329" "DNAI1_000027" "g.34512364del" "" "" "" "DNAI1(NM_001281428.2):c.1443delG (p.K481Nfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888823" "0" "90" "9" "34514466" "34514466" "subst" "3.25016E-5" "02325" "DNAI1_000028" "g.34514466G>A" "" "" "" "DNAI1(NM_012144.4):c.1644G>A (p.W548*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913151" "0" "70" "9" "34512197" "34512197" "subst" "0" "02329" "DNAI1_000029" "g.34512197G>A" "" "" "" "DNAI1(NM_001281428.2):c.1413+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929595" "0" "50" "9" "34506729" "34506729" "subst" "8.12883E-6" "02329" "DNAI1_000030" "g.34506729G>A" "" "" "" "DNAI1(NM_001281428.2):c.1180G>A (p.D394N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965398" "0" "90" "9" "34512333" "34512333" "subst" "0" "02327" "DNAI1_000031" "g.34512333A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997845" "0" "70" "9" "34500842" "34500842" "subst" "0" "02329" "DNAI1_000032" "g.34500842G>T" "" "" "" "DNAI1(NM_001281428.2):c.1031+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014533" "0" "90" "9" "34489395" "34489395" "del" "0" "02329" "DNAI1_000033" "g.34489395del" "" "" "" "DNAI1(NM_012144.4):c.336delC (p.D114Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014534" "0" "90" "9" "34512134" "34512134" "subst" "0" "02329" "DNAI1_000034" "g.34512134C>T" "" "" "" "DNAI1(NM_001281428.2):c.1351C>T (p.Q451*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014535" "0" "90" "9" "34514434" "34514434" "subst" "7.72113E-5" "02329" "DNAI1_000001" "g.34514434G>A" "" "" "" "DNAI1(NM_001281428.2):c.1624G>A (p.A542T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001022084" "0" "70" "9" "34459053" "34459053" "dup" "0" "04796" "FAM219A_000001" "g.34459053dup" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.34459055dup" "" "likely pathogenic" "" "0001022085" "0" "90" "9" "34520699" "34520699" "subst" "0.000121038" "04796" "ENHO_000002" "g.34520699T>C" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.34520701T>C" "" "pathogenic" "" "0001027671" "0" "30" "9" "34459043" "34459043" "subst" "0.000146234" "00006" "DNAI1_000035" "g.34459043C>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs146501326" "0" "" "" "g.34459045C>T" "" "likely benign" "" "0001027672" "0" "30" "9" "34459050" "34459050" "subst" "0.00033719" "00006" "DNAI1_000036" "g.34459050A>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs148701985" "0" "" "" "g.34459052A>G" "" "likely benign" "" "0001027673" "0" "50" "9" "34483498" "34483498" "subst" "0.000262491" "00006" "DNAI1_000037" "g.34483498T>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs572257884" "0" "" "" "g.34483500T>C" "" "VUS" "" "0001027674" "0" "70" "9" "34489333" "34489340" "del" "0" "00006" "DNAI1_000038" "g.34489333_34489340del" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.34489335_34489342del" "" "VUS" "" "0001027675" "0" "30" "9" "34506734" "34506734" "subst" "0.000105672" "00006" "DNAI1_000039" "g.34506734C>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs151097256" "0" "" "" "g.34506736C>G" "" "likely benign" "" "0001027676" "0" "30" "9" "34506826" "34506828" "del" "0" "00006" "DNAI1_000040" "g.34506826_34506828del" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs567346433" "0" "" "" "g.34506828_34506830del" "" "likely benign" "" "0001053229" "0" "50" "9" "34485236" "34485236" "subst" "0" "01804" "DNAI1_000041" "g.34485236G>A" "" "" "" "DNAI1(NM_012144.4):c.178G>A (p.(Ala60Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053230" "0" "70" "9" "34513108" "34513108" "subst" "4.06088E-6" "01804" "DNAI1_000021" "g.34513108A>G" "" "" "" "DNAI1(NM_001281428.2):c.1502-2A>G, DNAI1(NM_012144.4):c.1490-2A>G" "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 DNAI1 ## Count = 54 "{{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}}" "0000021766" "00025330" "50" "1612" "0" "1612" "0" "c.1612G>A" "r.(?)" "p.(Ala538Thr)" "17" "0000253457" "00025330" "10" "378" "0" "378" "0" "c.378A>G" "r.(?)" "p.(Glu126=)" "" "0000267469" "00025330" "10" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Val335Ile)" "" "0000275357" "00025330" "10" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Val335Ile)" "" "0000275359" "00025330" "10" "1460" "0" "1460" "0" "c.1460T>G" "r.(?)" "p.(Val487Gly)" "" "0000275360" "00025330" "30" "1611" "0" "1611" "0" "c.1611C>T" "r.(?)" "p.(Asp537=)" "" "0000275361" "00025330" "10" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "" "0000275362" "00025330" "10" "22" "0" "22" "0" "c.22G>T" "r.(?)" "p.(Ala8Ser)" "" "0000408306" "00025330" "70" "-134" "0" "48" "35" "c.-134_48+35del" "r.0?" "p.0?" "1_1i" "0000538012" "00025330" "90" "48" "2" "48" "2" "c.48+2dup" "r.spl?" "p.?" "" "0000538013" "00025330" "90" "48" "2" "48" "2" "c.48+2dup" "r.spl?" "p.?" "" "0000538014" "00025330" "90" "48" "2" "48" "2" "c.48+2dup" "r.spl?" "p.?" "" "0000538015" "00025330" "90" "48" "2" "48" "2" "c.48+2dup" "r.spl?" "p.?" "" "0000538016" "00025330" "90" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Trp42Ter)" "" "0000538018" "00025330" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "" "0000538020" "00025330" "50" "1163" "0" "1163" "0" "c.1163G>T" "r.(?)" "p.(Cys388Phe)" "" "0000538021" "00025330" "90" "1231" "0" "1231" "0" "c.1231del" "r.(?)" "p.(Tyr411ThrfsTer56)" "" "0000538022" "00025330" "30" "1401" "3" "1401" "3" "c.1401+3G>A" "r.spl?" "p.?" "" "0000538023" "00025330" "50" "1628" "0" "1628" "0" "c.1628T>C" "r.(?)" "p.(Val543Ala)" "" "0000538025" "00025330" "70" "2045" "0" "2045" "0" "c.2045T>C" "r.(?)" "p.(Ile682Thr)" "" "0000612085" "00025330" "90" "48" "2" "48" "2" "c.48+2dup" "r.spl?" "p.?" "" "0000612086" "00025330" "50" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Pro495Leu)" "" "0000612087" "00025330" "90" "1490" "-2" "1490" "-2" "c.1490-2A>G" "r.spl?" "p.?" "" "0000652704" "00025330" "50" "2045" "0" "2045" "0" "c.2045T>C" "r.(?)" "p.(Ile682Thr)" "" "0000664331" "00025330" "70" "48" "2" "48" "2" "c.48+2dup" "r.spl" "p.?" "" "0000664332" "00025330" "70" "1075" "1" "1075" "1" "c.1075+1G>A" "r.spl" "p.?" "" "0000678665" "00025330" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "" "0000711128" "00025330" "50" "757" "0" "757" "0" "c.757C>A" "r.(?)" "p.(Pro253Thr)" "" "0000722495" "00025330" "30" "1890" "0" "1890" "0" "c.1890C>T" "r.(?)" "p.(Asn630=)" "" "0000804104" "00025330" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Gln272*)" "" "0000804105" "00025330" "90" "1063" "1" "1063" "1" "c.1063+1G>A" "r.spl?" "p.?" "" "0000804106" "00025330" "50" "1168" "0" "1168" "0" "c.1168G>T" "r.(?)" "p.(Asp390Tyr)" "" "0000804107" "00025330" "90" "1490" "-2" "1490" "-2" "c.1490-2A>G" "r.spl?" "p.?" "" "0000852259" "00025330" "50" "1225" "0" "1225" "0" "c.1225G>A" "r.(?)" "p.(Ala409Thr)" "" "0000852260" "00025330" "30" "1877" "0" "1877" "0" "c.1877C>T" "r.(?)" "p.(Ala626Val)" "" "0000888822" "00025330" "90" "1431" "0" "1431" "0" "c.1431del" "r.(?)" "p.(Lys477Asnfs*2)" "" "0000888823" "00025330" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" "" "0000913151" "00025330" "70" "1401" "1" "1401" "1" "c.1401+1G>A" "r.spl?" "p.?" "" "0000929595" "00025330" "50" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "" "0000965398" "00025330" "90" "1402" "-2" "1402" "-2" "c.1402-2A>G" "r.spl?" "p.?" "" "0000997845" "00025330" "70" "1019" "5" "1019" "5" "c.1019+5G>T" "r.spl?" "p.?" "" "0001014533" "00025330" "90" "336" "0" "336" "0" "c.336del" "r.(?)" "p.(Asp114Thrfs*14)" "" "0001014534" "00025330" "90" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Gln447*)" "" "0001014535" "00025330" "90" "1612" "0" "1612" "0" "c.1612G>A" "r.(?)" "p.(Ala538Thr)" "" "0001022084" "00025330" "70" "48" "2" "48" "2" "c.48+2dup" "r.48_49=" "p.=" "1i" "0001022085" "00025330" "90" "2045" "0" "2045" "0" "c.2045T>C" "r.2045T>C" "p.Ile682Thr" "20" "0001027671" "00025330" "30" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(His14Tyr)" "" "0001027672" "00025330" "30" "47" "0" "47" "0" "c.47A>G" "r.(?)" "p.(Gln16Arg)" "" "0001027673" "00025330" "50" "81" "20" "81" "20" "c.81+20T>C" "r.(?)" "p.(=)" "" "0001027674" "00025330" "70" "274" "0" "281" "0" "c.274_281delAAGCCTAT" "r.(?)" "p.(Lys92TrpfsTer23)" "" "0001027675" "00025330" "30" "1173" "0" "1173" "0" "c.1173C>G" "r.(?)" "p.(Ile391Met)" "" "0001027676" "00025330" "30" "1265" "0" "1267" "0" "c.1265_1267del" "r.(?)" "p.(Phe422del)" "" "0001053229" "00025330" "50" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Ala60Thr)" "" "0001053230" "00025330" "70" "1490" "-2" "1490" "-2" "c.1490-2A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000003219" "0000021766" "0000184289" "0000408306" "0000296015" "0000652704" "0000301399" "0000664331" "0000301399" "0000664332" "0000327421" "0000711128" "0000462557" "0001022084" "0000462558" "0001022085" "0000464027" "0001027671" "0000464028" "0001027672" "0000464029" "0001027673" "0000464030" "0001027674" "0000464031" "0001027675" "0000464032" "0001027676"