### 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" "00006" "2026-07-27 12:33:04" ## 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 = 6 "{{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" "" "" "07230" "acidosis, lactic" "acidosis, lactic" "" "" "" "" "" "00006" "2026-02-18 09:51:16" "" "" ## 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 = 14 "{{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" "00468808" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040)" "" "" "United States" "" "0" "" "" "" "" "00472467" "" "" "" "1" "" "00006" "{PMID:Bravo-Alonso 2019:31683770}" "" "M" "" "Spain" "" "0" "" "" "" "Pat18" "00472468" "" "" "" "1" "" "00006" "{PMID:Bravo-Alonso 2019:31683770}" "" "M" "" "Spain" "" "0" "" "" "" "Pat19" "00472475" "" "" "" "1" "" "00006" "{PMID:Bravo-Alonso 2019:31683770}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "" "Pat35" "00481527" "" "" "" "1" "" "05014" "" "" "M" "" "Iran" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00080796" "01898" "00080796" "05179" "00080853" "01898" "00080986" "01898" "00209013" "05534" "00266292" "00198" "00274165" "00198" "00294261" "00198" "00294262" "00198" "00454708" "05534" "00468808" "00198" "00472467" "07230" "00472468" "07230" "00472475" "07230" "00481527" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01898, 05179, 05534, 07230 ## 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/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" "" "0000353961" "00198" "00468808" "00006" "Unknown" "" "developmental delay, hypotonia, brain hypomyelination" "" "" "" "" "" "" "" "" "abnormality of metabolism/homeostasis" "" "0000357277" "07230" "00472467" "00006" "Familial, autosomal recessive" "6y" "see paper; ..." "" "" "" "" "" "" "" "DLDD" "congenital lactic acidosis" "" "0000357278" "07230" "00472468" "00006" "Familial, autosomal recessive" "10m" "see paper; ..." "" "" "" "" "" "" "" "DLDD" "congenital lactic acidosis" "" "0000357285" "07230" "00472475" "00006" "Familial, autosomal recessive" "2y2m" "see paper; ..." "" "" "" "" "" "" "" "" "congenital lactic acidosis" "" "0000365798" "00198" "00481527" "05014" "Familial, autosomal recessive" "37y" "exercise intolerance since childhood; chronic intermittent painful muscle cramps; recurrent unexplained transaminase elevations; normal hepatic workup including liver biopsy; and calorie-restriction-induced metabolic decompensation with lactic acidosis, hyperammonemia, hypoglycemia, rhabdomyolysis, coagulopathy, and acute liver dysfunction requiring hemodialysis" "" "37y" "HP:0003546" "" "" "" "" "DLDD" "provisional peripheral nerve hyperexcitability" "Homozygous pathogenic DLD variant NM_000108.5:c.685G>T, p.(Gly229Cys), identified by a metabolic myopathy and rhabdomyolysis gene panel" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{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" "" "" "0000470476" "00468808" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474135" "00472467" "1" "00006" "00006" "2026-02-18 09:53:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474136" "00472468" "1" "00006" "00006" "2026-02-18 09:53:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474143" "00472475" "1" "00006" "00006" "2026-02-18 09:53:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483173" "00481527" "1" "05014" "05014" "2026-07-26 00:04:39" "" "" "SEQ-NG" "DNA" "Blood" "Targeted metabolic myopathy and rhabdomyolysis panel using next-generation sequencing and copy-number variant analysis." ## 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 = 73 "{{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" "" "0001058598" "3" "90" "7" "107555951" "107555951" "subst" "0.000292671" "00006" "DLD_000001" "g.107555951G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "" "Germline" "" "" "0" "" "" "g.107915506G>T" "" "pathogenic (recessive)" "" "0001068343" "1" "50" "7" "107542830" "107542830" "subst" "0" "00006" "DLD_000049" "g.107542830C>T" "" "{PMID:Bravo-Alonso 2019:31683770}" "" "" "ACMG PM2, PM3, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.107902385C>T" "" "VUS" "ACMG" "0001068344" "1" "50" "7" "107556054" "107556054" "subst" "0.000805271" "00006" "DLD_000008" "g.107556054G>A" "" "{PMID:Bravo-Alonso 2019:31683770}" "" "" "ACMG PM3, PP3; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.107915609G>A" "" "VUS" "ACMG" "0001068351" "3" "50" "7" "107546776" "107546776" "subst" "0" "00006" "DLD_000050" "g.107546776T>C" "" "{PMID:Bravo-Alonso 2019:31683770}" "" "" "ACMG PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.107906331T>C" "" "VUS" "ACMG" "0001068364" "2" "70" "7" "107557309" "107557309" "subst" "1.62497E-5" "00006" "DLD_000051" "g.107557309C>T" "" "{PMID:Bravo-Alonso 2019:31683770}" "" "" "ACMG PM2, PM4, PP3, PP4" "Germline" "" "" "0" "" "" "g.107916864C>T" "" "likely pathogenic" "ACMG" "0001080607" "3" "90" "7" "107555951" "107555951" "subst" "0.000292671" "05014" "DLD_000001" "g.107555951G>T" "" "" "" "NM_000108.5:c.685G>T" "" "Germline" "?" "rs121964990" "0" "" "" "g.107915506G>T" "11966" "pathogenic (recessive)" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DLD ## Count = 73 "{{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)" "" "0001058598" "00006457" "90" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Gly229Cys)" "" "0001068343" "00006457" "50" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Pro87Ser)" "" "0001068344" "00006457" "50" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263His)" "" "0001068351" "00006457" "50" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Met216Thr)" "" "0001068364" "00006457" "70" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Ter)" "" "0001080607" "00006457" "90" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Gly229Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000080908" "0000129984" "0000080965" "0000130051" "0000081098" "0000130184" "0000210070" "0000441244" "0000267415" "0000598473" "0000275320" "0000629284" "0000295429" "0000652118" "0000295430" "0000652119" "0000456321" "0001008567" "0000470476" "0001058598" "0000474135" "0001068343" "0000474135" "0001068364" "0000474136" "0001068344" "0000474143" "0001068351" "0000483173" "0001080607"