### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DLD) # 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}}" "DLD" "dihydrolipoamide dehydrogenase" "7" "q31-q32" "unknown" "NC_000007.13" "UD_132084405078" "" "https://www.LOVD.nl/DLD" "" "1" "2898" "1738" "238331" "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/DLD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-23 14:30:09" "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}}" "00006457" "DLD" "dihydrolipoamide dehydrogenase" "001" "NM_000108.3" "" "NP_000099.2" "" "" "" "-110" "3469" "1530" "107531586" "107561643" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01898" "DLDD" "dihydrolipoamide dehydrogenase deficiency (DLDD)" "AR" "246900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05179" "MTCO1" "deficiency, cytochrome Coxidase subunit I (MTCO-1)" "" "516030" "" "" "" "00006" "2016-09-13 15:57:13" "00006" "2021-12-10 21:51:32" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DLD" "00139" "DLD" "01898" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00080796" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080853" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080986" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "no information from parents" "" "" "" "" "0" "" "" "" "" "00209013" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat16" "00266292" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00274165" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "F" "" "Poland" "" "0" "" "" "" "Pat31" "00294261" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294262" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00454708" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "" "F" "" "" "" "0" "" "" "" "NGSP33" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00080796" "01898" "00080796" "05179" "00080853" "01898" "00080986" "01898" "00209013" "05534" "00266292" "00198" "00274165" "00198" "00294261" "00198" "00294262" "00198" "00454708" "05534" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01898, 05179, 05534 ## Count = 8 "{{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}}" "0000060365" "01898" "00080796" "01758" "Familial, autosomal recessive" "" "Dihydrolipoamide dehydrogenase deficiency (OMIM:246900)" "" "" "" "" "" "" "" "" "" "" "" "0000060422" "01898" "00080853" "01758" "Familial, autosomal recessive" "" "Dihydrolipoamide dehydrogenase deficiency (OMIM:246900)" "" "" "" "" "" "" "" "" "" "" "" "0000060555" "01898" "00080986" "01758" "Familial, autosomal recessive" "" "Dihydrolipoamide dehydrogenase deficiency (OMIM:246900)" "" "" "" "" "" "" "" "" "" "" "" "0000060674" "05179" "00080796" "01758" "Maternal, mitochondrial" "" "Cytochrome c oxidase subunit I (OMIM:516030)" "" "" "" "" "" "" "" "" "" "" "" "0000157618" "05534" "00209013" "00006" "Familial, autosomal recessive" "" "suspected mitochondrial disorder" "" "" "" "" "" "" "" "" "DLDD" "suspected mitochondrial disorder" "" "0000204068" "00198" "00266292" "01807" "Unknown" "" "Acute hepatic failure (HP:0006554)" "" "" "" "" "" "" "" "" "" "" "" "0000209110" "00198" "00274165" "00006" "Familial, autosomal recessive" "" "mitochondrial disease criteria score 6; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000343336" "05534" "00454708" "00095" "Familial, autosomal recessive" "" "Leigh syndrome" "<1y" "" "" "" "" "" "" "" "" "pyruvate dehydrogenase complex deficiency" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080908" "00080796" "1" "01758" "00006" "2016-09-07 13:24:08" "00006" "2016-09-16 12:37:53" "SEQ;SEQ-NG" "DNA" "" "" "0000080965" "00080853" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081098" "00080986" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000210070" "00209013" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS" "0000267415" "00266292" "1" "01807" "01807" "2019-10-21 10:58:46" "" "" "SEQ" "DNA" "" "" "0000275320" "00274165" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000295429" "00294261" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295430" "00294262" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000456321" "00454708" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000080908" "DLD" "0000080908" "MT-CO1" "0000080965" "DLD" "0000081098" "DLD" "0000210070" "DLD" "0000275320" "DLD" ## 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 = 67 "{{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}}" "0000129984" "3" "90" "7" "107555951" "107555951" "subst" "0.000292671" "01758" "DLD_000001" "g.107555951G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "the patient also has a maternally inherited heteroplasmic variant in the MT-CO1 gene (m.7443A>C, p.(Ter514Argext*?))" "Germline" "" "" "0" "" "" "g.107915506G>T" "" "pathogenic" "ACMG" "0000130051" "3" "90" "7" "107559516" "107559516" "subst" "0" "01758" "DLD_000002" "g.107559516A>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.107919071A>T" "" "pathogenic" "ACMG" "0000130184" "3" "90" "7" "107555951" "107555951" "subst" "0.000292671" "01758" "DLD_000001" "g.107555951G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.107915506G>T" "" "pathogenic" "ACMG" "0000246574" "0" "10" "7" "107559722" "107559722" "subst" "0.36142" "02330" "DLD_000015" "g.107559722A>T" "" "" "" "DLD(NM_000108.5):c.*18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107919277A>T" "" "benign" "" "0000246660" "0" "50" "7" "107533679" "107533679" "subst" "0.000138352" "02330" "DLD_000003" "g.107533679A>C" "" "" "" "DLD(NM_000108.4):c.74A>C (p.Q25P), DLD(NM_000108.5):c.74A>C (p.Q25P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107893234A>C" "" "VUS" "" "0000248436" "0" "10" "7" "107559722" "107559722" "subst" "0.36142" "02325" "DLD_000015" "g.107559722A>T" "" "" "" "DLD(NM_000108.5):c.*18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107919277A>T" "" "benign" "" "0000249376" "0" "30" "7" "107559502" "107559502" "subst" "0.00883118" "02325" "DLD_000014" "g.107559502A>C" "" "" "" "DLD(NM_000108.5):c.1422A>C (p.G474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107919057A>C" "" "likely benign" "" "0000254507" "0" "30" "7" "107545910" "107545910" "subst" "0.0035622" "01943" "DLD_000006" "g.107545910A>T" "" "" "" "DLD(NM_000108.4):c.543A>T (p.I181=), DLD(NM_000108.5):c.543A>T (p.I181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107905465A>T" "" "likely benign" "" "0000256548" "0" "50" "7" "107556092" "107556092" "subst" "0.00035779" "01943" "DLD_000009" "g.107556092A>T" "" "" "" "DLD(NM_000108.4):c.826A>T (p.T276S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107915647A>T" "" "VUS" "" "0000265366" "0" "30" "7" "107545967" "107545967" "subst" "8.12665E-5" "02330" "DLD_000007" "g.107545967T>C" "" "" "" "DLD(NM_000108.5):c.582+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107905522T>C" "" "likely benign" "" "0000265367" "0" "50" "7" "107556126" "107556126" "subst" "6.91619E-5" "02330" "DLD_000010" "g.107556126G>A" "" "" "" "DLD(NM_000108.5):c.860G>A (p.G287E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107915681G>A" "" "VUS" "" "0000267411" "0" "30" "7" "107545874" "107545874" "subst" "0.000625543" "02325" "DLD_000005" "g.107545874C>T" "" "" "" "DLD(NM_000108.4):c.507C>T (p.G169=), DLD(NM_000108.5):c.507C>T (p.G169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107905429C>T" "" "likely benign" "" "0000267412" "0" "90" "7" "107555951" "107555951" "subst" "0.000292671" "02325" "DLD_000001" "g.107555951G>T" "" "" "" "DLD(NM_000108.5):c.685G>T (p.G229C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107915506G>T" "" "pathogenic" "" "0000275089" "0" "50" "7" "107556054" "107556054" "subst" "0.000805271" "01943" "DLD_000008" "g.107556054G>A" "" "" "" "DLD(NM_000108.4):c.788G>A (p.R263H), DLD(NM_000108.5):c.788G>A (p.(Arg263His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107915609G>A" "" "VUS" "" "0000275090" "0" "30" "7" "107557256" "107557256" "subst" "0" "01943" "DLD_000011" "g.107557256G>A" "" "" "" "DLD(NM_000108.4):c.893G>A (p.G298D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107916811G>A" "" "likely benign" "" "0000282059" "0" "10" "7" "107564542" "107564542" "subst" "0.579264" "02325" "LAMB1_000007" "g.107564542G>T" "" "" "" "LAMB1(NM_002291.3):c.5225-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107924097G>T" "" "benign" "" "0000282060" "0" "10" "7" "107564539" "107564540" "del" "0" "02325" "LAMB1_000005" "g.107564539_107564540del" "" "" "" "LAMB1(NM_002291.3):c.5225-6_5225-5delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107924094_107924095del" "" "benign" "" "0000282061" "0" "10" "7" "107564539" "107564539" "subst" "0.563012" "02325" "LAMB1_000006" "g.107564539G>A" "" "" "" "LAMB1(NM_002291.3):c.5225-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107924094G>A" "" "benign" "" "0000331796" "0" "50" "7" "107543933" "107543933" "subst" "0" "01804" "DLD_000004" "g.107543933A>G" "" "" "" "DLD(NM_000108.3):c.278A>G (p.(Asn93Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107903488A>G" "" "VUS" "" "0000331797" "0" "50" "7" "107557263" "107557263" "del" "0" "01804" "DLD_000012" "g.107557263del" "" "" "" "DLD(NM_000108.3):c.898del (p.(Ala301LeufsTer24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107916818del" "" "VUS" "" "0000331798" "0" "50" "7" "107557794" "107557794" "subst" "9.75649E-5" "01804" "DLD_000013" "g.107557794G>A" "" "" "" "DLD(NM_000108.3):c.1123G>A (p.(Glu375Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107917349G>A" "" "VUS" "" "0000331799" "0" "50" "7" "107564435" "107564436" "dup" "0" "01804" "LAMB1_000003" "g.107564435_107564436dup" "" "" "" "LAMB1(NM_002291.2):c.5325_5326insTA (p.(Ser1776Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107923990_107923991dup" "" "VUS" "" "0000441244" "3" "90" "7" "107557794" "107557794" "subst" "9.75649E-5" "00006" "DLD_000013" "g.107557794G>A" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.107917349G>A" "" "pathogenic (recessive)" "" "0000530379" "0" "10" "7" "107531729" "107531729" "subst" "0.00149948" "02330" "DLD_000016" "g.107531729G>A" "" "" "" "DLD(NM_000108.5):c.34G>A (p.A12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107891284G>A" "" "benign" "" "0000530380" "0" "30" "7" "107533650" "107533650" "subst" "1.62824E-5" "02330" "DLD_000017" "g.107533650C>G" "" "" "" "DLD(NM_000108.4):c.45C>G (p.G15=), DLD(NM_000108.5):c.45C>G (p.G15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107893205C>G" "" "likely benign" "" "0000530381" "0" "30" "7" "107533679" "107533679" "subst" "0.000138352" "01943" "DLD_000003" "g.107533679A>C" "" "" "" "DLD(NM_000108.4):c.74A>C (p.Q25P), DLD(NM_000108.5):c.74A>C (p.Q25P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107893234A>C" "" "likely benign" "" "0000530382" "0" "30" "7" "107533687" "107533687" "subst" "4.07057E-5" "01943" "DLD_000018" "g.107533687T>C" "" "" "" "DLD(NM_000108.4):c.82T>C (p.S28P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107893242T>C" "" "likely benign" "" "0000530383" "0" "30" "7" "107533705" "107533705" "subst" "0.000545647" "01943" "DLD_000019" "g.107533705A>G" "" "" "" "DLD(NM_000108.3):c.100A>G (p.(Thr34Ala)), DLD(NM_000108.4):c.100A>G (p.T34A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107893260A>G" "" "likely benign" "" "0000530384" "0" "30" "7" "107533705" "107533705" "subst" "0.000545647" "01804" "DLD_000019" "g.107533705A>G" "" "" "" "DLD(NM_000108.3):c.100A>G (p.(Thr34Ala)), DLD(NM_000108.4):c.100A>G (p.T34A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107893260A>G" "" "likely benign" "" "0000530385" "0" "90" "7" "107533709" "107533709" "dup" "0" "02325" "DLD_000020" "g.107533709dup" "" "" "" "DLD(NM_000108.5):c.104dupA (p.Y35*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107893264dup" "" "pathogenic" "" "0000530387" "0" "10" "7" "107543976" "107543976" "subst" "0.000333624" "02330" "DLD_000022" "g.107543976A>G" "" "" "" "DLD(NM_000108.5):c.321A>G (p.A107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107903531A>G" "" "benign" "" "0000530388" "0" "50" "7" "107545471" "107545471" "subst" "0" "02325" "DLD_000023" "g.107545471G>C" "" "" "" "DLD(NM_000108.5):c.406G>C (p.G136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107905026G>C" "" "VUS" "" "0000530389" "0" "10" "7" "107545799" "107545799" "subst" "0.612151" "02330" "DLD_000024" "g.107545799T>C" "" "" "" "DLD(NM_000108.5):c.439-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107905354T>C" "" "benign" "" "0000530390" "0" "10" "7" "107545799" "107545799" "subst" "0.612151" "02327" "DLD_000024" "g.107545799T>C" "" "" "" "DLD(NM_000108.5):c.439-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107905354T>C" "" "benign" "" "0000530391" "0" "10" "7" "107545799" "107545799" "subst" "0.612151" "02325" "DLD_000024" "g.107545799T>C" "" "" "" "DLD(NM_000108.5):c.439-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107905354T>C" "" "benign" "" "0000530392" "0" "50" "7" "107545825" "107545825" "subst" "0" "02330" "DLD_000025" "g.107545825A>G" "" "" "" "DLD(NM_000108.5):c.458A>G (p.Y153C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107905380A>G" "" "VUS" "" "0000530393" "0" "30" "7" "107545874" "107545874" "subst" "0.000625543" "01943" "DLD_000005" "g.107545874C>T" "" "" "" "DLD(NM_000108.4):c.507C>T (p.G169=), DLD(NM_000108.5):c.507C>T (p.G169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107905429C>T" "" "likely benign" "" "0000530394" "0" "30" "7" "107545910" "107545910" "subst" "0.0035622" "02330" "DLD_000006" "g.107545910A>T" "" "" "" "DLD(NM_000108.4):c.543A>T (p.I181=), DLD(NM_000108.5):c.543A>T (p.I181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107905465A>T" "" "likely benign" "" "0000530395" "0" "30" "7" "107545916" "107545916" "subst" "0.000154356" "01943" "DLD_000026" "g.107545916G>A" "" "" "" "DLD(NM_000108.4):c.549G>A (p.T183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107905471G>A" "" "likely benign" "" "0000530396" "0" "10" "7" "107546804" "107546804" "subst" "0.00287655" "02330" "DLD_000027" "g.107546804T>C" "" "" "" "DLD(NM_000108.5):c.675T>C (p.G225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107906359T>C" "" "benign" "" "0000530397" "0" "10" "7" "107555937" "107555937" "subst" "0.0154745" "02330" "DLD_000028" "g.107555937T>A" "" "" "" "DLD(NM_000108.5):c.685-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107915492T>A" "" "benign" "" "0000530398" "0" "50" "7" "107558469" "107558469" "subst" "4.06583E-5" "01804" "DLD_000029" "g.107558469C>T" "" "" "" "DLD(NM_000108.3):c.1337C>T (p.(Ser446Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107918024C>T" "" "VUS" "" "0000530399" "0" "10" "7" "107559722" "107559722" "subst" "0.36142" "02327" "DLD_000015" "g.107559722A>T" "" "" "" "DLD(NM_000108.5):c.*18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107919277A>T" "" "benign" "" "0000598473" "0" "50" "7" "107543928" "107543928" "subst" "0" "01807" "DLD_000031" "g.107543928A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.107903483A>T" "" "VUS" "ACMG" "0000621796" "0" "30" "7" "107533650" "107533650" "subst" "1.62824E-5" "01943" "DLD_000017" "g.107533650C>G" "" "" "" "DLD(NM_000108.4):c.45C>G (p.G15=), DLD(NM_000108.5):c.45C>G (p.G15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107893205C>G" "" "likely benign" "" "0000621797" "0" "30" "7" "107564742" "107564742" "subst" "0.000110206" "01943" "DLD_000032" "g.107564742G>A" "" "" "" "LAMB1(NM_002291.2):c.5157C>T (p.A1719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107924297G>A" "" "likely benign" "" "0000629284" "3" "90" "7" "107557794" "107557794" "subst" "9.75649E-5" "00006" "DLD_000013" "g.107557794G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.107917349G>A" "" "pathogenic" "" "0000652118" "1" "70" "7" "107557794" "107557794" "subst" "9.75649E-5" "03575" "DLD_000013" "g.107557794G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121964992}" "Germline" "" "rs121964992" "0" "" "" "g.107917349G>A" "" "likely pathogenic" "" "0000652119" "1" "10" "7" "107559502" "107559502" "subst" "0.00883118" "03575" "DLD_000014" "g.107559502A>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs34453495}" "Germline" "" "rs34453495" "0" "" "" "g.107919057A>C" "" "benign" "" "0000655703" "0" "30" "7" "107545910" "107545910" "subst" "0.0035622" "02326" "DLD_000006" "g.107545910A>T" "" "" "" "DLD(NM_000108.4):c.543A>T (p.I181=), DLD(NM_000108.5):c.543A>T (p.I181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107905465A>T" "" "likely benign" "" "0000689859" "0" "50" "7" "107531730" "107531730" "subst" "8.12783E-6" "02325" "DLD_000033" "g.107531730C>T" "" "" "" "DLD(NM_000108.5):c.35C>T (p.A12V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802837" "0" "30" "7" "107564736" "107564736" "subst" "1.63072E-5" "01943" "DLD_000034" "g.107564736C>G" "" "" "" "LAMB1(NM_002291.2):c.5163G>C (p.M1721I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851369" "0" "50" "7" "107533710" "107533710" "subst" "0" "01943" "DLD_000035" "g.107533710C>G" "" "" "" "DLD(NM_000108.4):c.105C>G (p.Y35*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851370" "0" "90" "7" "107556069" "107556070" "del" "1.21999E-5" "02327" "DLD_000036" "g.107556069_107556070del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964380" "0" "50" "7" "107559520" "107559520" "subst" "1.6254E-5" "02327" "DLD_000037" "g.107559520A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977456" "0" "50" "7" "107542265" "107542265" "subst" "4.06339E-6" "01804" "DLD_000038" "g.107542265A>G" "" "" "" "DLD(NM_000108.5):c.198+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977457" "0" "50" "7" "107564452" "107564452" "subst" "2.16183E-5" "01804" "DLD_000039" "g.107564452G>A" "" "" "" "LAMB1(NM_002291.3):c.5305C>T (p.(Arg1769Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977458" "0" "30" "7" "107564541" "107564542" "ins" "0" "01804" "DLD_000040" "g.107564541_107564542insTA" "" "" "" "LAMB1(NM_002291.3):c.5225-9_5225-8insAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008567" "3" "90" "7" "107559524" "107559524" "subst" "0" "00095" "DLD_000041" "g.107559524A>G" "" "{PMID:Legati 2016:26968897}" "" "R482G" "" "Germline" "" "" "0" "" "" "g.107919079A>G" "" "pathogenic" "" "0001036053" "0" "50" "7" "107556054" "107556054" "subst" "0.000805271" "01804" "DLD_000008" "g.107556054G>A" "" "" "" "DLD(NM_000108.4):c.788G>A (p.R263H), DLD(NM_000108.5):c.788G>A (p.(Arg263His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036054" "0" "50" "7" "107564456" "107564456" "subst" "0" "01804" "DLD_000042" "g.107564456T>A" "" "" "" "LAMB1(NM_002291.3):c.5301A>T (p.(Glu1767Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036055" "0" "30" "7" "107564838" "107564838" "subst" "2.13639E-5" "01804" "DLD_000043" "g.107564838T>C" "" "" "" "LAMB1(NM_002291.3):c.5065-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052790" "0" "30" "7" "107545958" "107545958" "subst" "0" "01804" "DLD_000044" "g.107545958G>A" "" "" "" "DLD(NM_000108.5):c.582+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052791" "0" "50" "7" "107556071" "107556074" "dup" "0" "01804" "DLD_000045" "g.107556071_107556074dup" "" "" "" "DLD(NM_000108.5):c.805_808dup (p.(Phe270Trpfs*3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052792" "0" "50" "7" "107557274" "107557274" "subst" "0.000129988" "01804" "DLD_000046" "g.107557274T>C" "" "" "" "DLD(NM_000108.5):c.911T>C (p.(Ile304Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052793" "0" "50" "7" "107557291" "107557291" "subst" "4.06217E-6" "01804" "DLD_000047" "g.107557291T>A" "" "" "" "DLD(NM_000108.5):c.928T>A (p.(Leu310Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052794" "0" "90" "7" "107559496" "107559502" "del" "0" "01804" "DLD_000048" "g.107559496_107559502del" "" "" "" "DLD(NM_000108.5):c.1416_1422del (p.(Tyr473Hisfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 DLD ## Count = 67 "{{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}}" "0000129984" "00006457" "90" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Gly229Cys)" "" "0000130051" "00006457" "90" "1436" "0" "1436" "0" "c.1436A>T" "r.(?)" "p.(Asp479Val)" "" "0000130184" "00006457" "90" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Gly229Cys)" "" "0000246574" "00006457" "10" "1548" "0" "1548" "0" "c.*18A>T" "r.(=)" "p.(=)" "" "0000246660" "00006457" "50" "74" "0" "74" "0" "c.74A>C" "r.(?)" "p.(Gln25Pro)" "" "0000248436" "00006457" "10" "1548" "0" "1548" "0" "c.*18A>T" "r.(=)" "p.(=)" "" "0000249376" "00006457" "30" "1422" "0" "1422" "0" "c.1422A>C" "r.(?)" "p.(Gly474=)" "" "0000254507" "00006457" "30" "543" "0" "543" "0" "c.543A>T" "r.(?)" "p.(Ile181=)" "" "0000256548" "00006457" "50" "826" "0" "826" "0" "c.826A>T" "r.(?)" "p.(Thr276Ser)" "" "0000265366" "00006457" "30" "582" "18" "582" "18" "c.582+18T>C" "r.(=)" "p.(=)" "" "0000265367" "00006457" "50" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Gly287Glu)" "" "0000267411" "00006457" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Gly169=)" "" "0000267412" "00006457" "90" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Gly229Cys)" "" "0000275089" "00006457" "50" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263His)" "" "0000275090" "00006457" "30" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Gly298Asp)" "" "0000282059" "00006457" "10" "6368" "0" "6368" "0" "c.*4838G>T" "r.(=)" "p.(=)" "" "0000282060" "00006457" "10" "6365" "0" "6366" "0" "c.*4835_*4836del" "r.(=)" "p.(=)" "" "0000282061" "00006457" "10" "6365" "0" "6365" "0" "c.*4835G>A" "r.(=)" "p.(=)" "" "0000331796" "00006457" "50" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Asn93Ser)" "" "0000331797" "00006457" "50" "900" "0" "900" "0" "c.900del" "r.(?)" "p.(Ala301LeufsTer24)" "" "0000331798" "00006457" "50" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Glu375Lys)" "" "0000331799" "00006457" "50" "6261" "0" "6262" "0" "c.*4731_*4732dup" "r.(=)" "p.(=)" "" "0000441244" "00006457" "90" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Glu375Lys)" "" "0000530379" "00006457" "10" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "" "0000530380" "00006457" "30" "45" "0" "45" "0" "c.45C>G" "r.(?)" "p.(Gly15=)" "" "0000530381" "00006457" "30" "74" "0" "74" "0" "c.74A>C" "r.(?)" "p.(Gln25Pro)" "" "0000530382" "00006457" "30" "82" "0" "82" "0" "c.82T>C" "r.(?)" "p.(Ser28Pro)" "" "0000530383" "00006457" "30" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.(Thr34Ala)" "" "0000530384" "00006457" "30" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.(Thr34Ala)" "" "0000530385" "00006457" "90" "104" "0" "104" "0" "c.104dup" "r.(?)" "p.(Tyr35Ter)" "" "0000530387" "00006457" "10" "321" "0" "321" "0" "c.321A>G" "r.(?)" "p.(Ala107=)" "" "0000530388" "00006457" "50" "406" "0" "406" "0" "c.406G>C" "r.(?)" "p.(Gly136Arg)" "" "0000530389" "00006457" "10" "439" "-7" "439" "-7" "c.439-7T>C" "r.(=)" "p.(=)" "" "0000530390" "00006457" "10" "439" "-7" "439" "-7" "c.439-7T>C" "r.(=)" "p.(=)" "" "0000530391" "00006457" "10" "439" "-7" "439" "-7" "c.439-7T>C" "r.(=)" "p.(=)" "" "0000530392" "00006457" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Tyr153Cys)" "" "0000530393" "00006457" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Gly169=)" "" "0000530394" "00006457" "30" "543" "0" "543" "0" "c.543A>T" "r.(?)" "p.(Ile181=)" "" "0000530395" "00006457" "30" "549" "0" "549" "0" "c.549G>A" "r.(?)" "p.(Thr183=)" "" "0000530396" "00006457" "10" "675" "0" "675" "0" "c.675T>C" "r.(?)" "p.(Gly225=)" "" "0000530397" "00006457" "10" "685" "-14" "685" "-14" "c.685-14T>A" "r.(=)" "p.(=)" "" "0000530398" "00006457" "50" "1337" "0" "1337" "0" "c.1337C>T" "r.(?)" "p.(Ser446Leu)" "" "0000530399" "00006457" "10" "1548" "0" "1548" "0" "c.*18A>T" "r.(=)" "p.(=)" "" "0000598473" "00006457" "50" "273" "0" "273" "0" "c.273A>T" "r.(?)" "p.(Leu91Phe)" "" "0000621796" "00006457" "30" "45" "0" "45" "0" "c.45C>G" "r.(?)" "p.(Gly15=)" "" "0000621797" "00006457" "30" "6568" "0" "6568" "0" "c.*5038G>A" "r.(=)" "p.(=)" "" "0000629284" "00006457" "90" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Glu375Lys)" "" "0000652118" "00006457" "70" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Glu375Lys)" "" "0000652119" "00006457" "10" "1422" "0" "1422" "0" "c.1422A>C" "r.(=)" "p.(=)" "" "0000655703" "00006457" "30" "543" "0" "543" "0" "c.543A>T" "r.(?)" "p.(Ile181=)" "" "0000689859" "00006457" "50" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Ala12Val)" "" "0000802837" "00006457" "30" "6562" "0" "6562" "0" "c.*5032C>G" "r.(=)" "p.(=)" "" "0000851369" "00006457" "50" "105" "0" "105" "0" "c.105C>G" "r.(?)" "p.(Tyr35*)" "" "0000851370" "00006457" "90" "803" "0" "804" "0" "c.803_804del" "r.(?)" "p.(Gln268Argfs*3)" "" "0000964380" "00006457" "50" "1440" "0" "1440" "0" "c.1440A>G" "r.(?)" "p.(Ile480Met)" "" "0000977456" "00006457" "50" "198" "3" "198" "3" "c.198+3A>G" "r.spl?" "p.?" "" "0000977457" "00006457" "50" "6278" "0" "6278" "0" "c.*4748G>A" "r.(=)" "p.(=)" "" "0000977458" "00006457" "30" "6367" "0" "6368" "0" "c.*4837_*4838insTA" "r.(=)" "p.(=)" "" "0001008567" "00006457" "90" "1444" "0" "1444" "0" "c.1444A>G" "r.(?)" "p.(Arg482Gly)" "" "0001036053" "00006457" "50" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263His)" "" "0001036054" "00006457" "50" "6282" "0" "6282" "0" "c.*4752T>A" "r.(=)" "p.(=)" "" "0001036055" "00006457" "30" "6664" "0" "6664" "0" "c.*5134T>C" "r.(=)" "p.(=)" "" "0001052790" "00006457" "30" "582" "9" "582" "9" "c.582+9G>A" "r.(=)" "p.(=)" "" "0001052791" "00006457" "50" "805" "0" "808" "0" "c.805_808dup" "r.(?)" "p.(Phe270Trpfs*3)" "" "0001052792" "00006457" "50" "911" "0" "911" "0" "c.911T>C" "r.(?)" "p.(Ile304Thr)" "" "0001052793" "00006457" "50" "928" "0" "928" "0" "c.928T>A" "r.(?)" "p.(Leu310Met)" "" "0001052794" "00006457" "90" "1416" "0" "1422" "0" "c.1416_1422del" "r.(?)" "p.(Tyr473Hisfs*6)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000080908" "0000129984" "0000080965" "0000130051" "0000081098" "0000130184" "0000210070" "0000441244" "0000267415" "0000598473" "0000275320" "0000629284" "0000295429" "0000652118" "0000295430" "0000652119" "0000456321" "0001008567"