### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DDC) # 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}}" "DDC" "dopa decarboxylase (aromatic L-amino acid decarboxylase)" "7" "p12.1" "unknown" "NG_008742.1" "UD_132118896782" "" "https://www.LOVD.nl/DDC" "" "1" "2719" "1644" "107930" "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/DDC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-01-01 10:01:34" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006195" "DDC" "transcript variant 2" "006" "NM_000790.3" "" "NP_000781.1" "" "" "" "-86" "1869" "1443" "50628768" "50526134" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02777" "AADCD" "aromatic-L-amino-acid decarboxylase deficiency (AADCD)" "AR" "608643" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-26 11:26:42" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DDC" "02777" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00288196" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat6" "00294471" "" "" "" "73" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294472" "" "" "" "81" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294473" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302580" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P1" "00302581" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P2" "00302582" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P3" "00302583" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P4" "00302584" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P5" "00302585" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "M" "" "China" "" "0" "" "" "" "P6" "00302586" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P7" "00302587" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "M" "" "China" "" "0" "" "" "" "P8" "00302588" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P9" "00302589" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P10" "00302590" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "M" "" "China" "" "0" "" "" "" "P11" "00302591" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "M" "" "China" "" "0" "" "" "" "P12" "00302592" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P13" "00302593" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P14" "00302594" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "M" "" "China" "" "0" "" "" "" "P15" "00302595" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "M" "" "China" "" "0" "" "" "" "P16" "00302596" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "M" "" "China" "" "0" "" "" "" "P17" "00302597" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "M" "" "China" "" "0" "" "" "" "P18" "00302598" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "M" "" "China" "" "0" "" "" "" "P19" "00302599" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "M" "" "China" "" "0" "" "" "" "P20" "00302600" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}" "" "F" "" "China" "" "0" "" "" "" "P21" "00302601" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}, Chen 2019, Linchuang Er Ke Za Zhi 37:365" "" "F" "" "China" "" "0" "" "" "" "P22" "00302602" "" "" "" "1" "" "00006" "{PMID:Wen 2020:32409695}, Chen 2019, Linchuang Er Ke Za Zhi 37:365" "" "F" "" "China" "" "0" "" "" "" "P23" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00288196" "00198" "00294471" "00198" "00294472" "00198" "00294473" "00198" "00302580" "02777" "00302581" "02777" "00302582" "02777" "00302583" "02777" "00302584" "02777" "00302585" "02777" "00302586" "02777" "00302587" "02777" "00302588" "02777" "00302589" "02777" "00302590" "02777" "00302591" "02777" "00302592" "02777" "00302593" "02777" "00302594" "02777" "00302595" "02777" "00302596" "02777" "00302597" "02777" "00302598" "02777" "00302599" "02777" "00302600" "02777" "00302601" "02777" "00302602" "02777" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02777 ## Count = 24 "{{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}}" "0000221933" "00198" "00288196" "00006" "Familial, autosomal recessive" "15y" "abnormal facial shape, absent speech, astigmatism, bowel incontinence, cerebral palsy, developmental delay, dystonia, flexion contracture, hypotonia, inability to walk, micrognathia, myopia, obstructive sleep apnea, osteopenia, poor head control, posteriorly rotated ears, seizures, skin rash, talipes equinovarus, tapered finger, urinary incontinence" "" "" "" "" "" "" "" "" "" "" "" "0000229661" "02777" "00302580" "00006" "Familial, autosomal recessive" "14m" "disease moderate severity; 3m-head control; turn over at 13 m; now could sit with support and say a few simple words; EEG normal; MRI brain normal" "3m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229662" "02777" "00302581" "00006" "Familial, autosomal recessive" "7m" "disease moderate severity; 15m-head control; turn over at 20 m; now could sit with assistance and grasp small things in a few minutes; EEG delta slow wave; MRI brain increased extracerebral space" "3m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229663" "02777" "00302582" "00006" "Familial, autosomal recessive" "12m" "disease moderate severity; 10m-head control; 19m-turn over; 19m-sit; now babble; EEG sharp slow wave ; MRI brain delayed myelination" "5m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229664" "02777" "00302583" "00006" "Familial, autosomal recessive" "21m" "disease moderate severity; 12m-head control; 14m-turn over; 18m-sit; 8m-babble; 27m-walk; EEG normal; MRI brain increased extracerebral space" "6m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229665" "02777" "00302584" "00006" "Familial, autosomal recessive" "17m" "severe, bedridden" "3m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229666" "02777" "00302585" "00006" "Familial, autosomal recessive" "12m" "severe, bedridden; EEG normal; MRI brain delayed myelination" "4m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229667" "02777" "00302586" "00006" "Familial, autosomal recessive" "8m" "severe, bedridden; EEG normal; MRI brain normal" "4m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229668" "02777" "00302587" "00006" "Familial, autosomal recessive" "20m" "severe, bedridden; EEG normal; MRI brain normal" "5m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229669" "02777" "00302588" "00006" "Familial, autosomal recessive" "19m" "severe, bedridden" "3m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229670" "02777" "00302589" "00006" "Familial, autosomal recessive" "14m" "severe, bedridden; EEG normal" "3m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229671" "02777" "00302590" "00006" "Familial, autosomal recessive" "8m" "severe, bedridden; MRI brain delayed myelination" "3m15d" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229672" "02777" "00302591" "00006" "Familial, autosomal recessive" "8m" "severe, bedridden; EEG normal; MRI brain delayed myelination" "3m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229673" "02777" "00302592" "00006" "Familial, autosomal recessive" "9m" "severe, bedridden; EEG normal; MRI brain increased extracerebral space" "7m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229674" "02777" "00302593" "00006" "Familial, autosomal recessive" "25m" "severe, bedridden; EEG normal; MRI brain increased extracerebral space" "3m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229675" "02777" "00302594" "00006" "Familial, autosomal recessive" "9m" "severe, bedridden; EEG normal; MRI brain normal" "4m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229676" "02777" "00302595" "00006" "Familial, autosomal recessive" "8m" "severe, bedridden; EEG normal; MRI brain normal" "2m15d" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229677" "02777" "00302596" "00006" "Familial, autosomal recessive" "18m" "severe, bedridden" "4m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229678" "02777" "00302597" "00006" "Familial, autosomal recessive" "14m" "severe, bedridden" "4m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229679" "02777" "00302598" "00006" "Familial, autosomal recessive" "5m" "severe, bedridden; EEG normal; MRI brain normal" "2m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229680" "02777" "00302599" "00006" "Familial, autosomal recessive" "4m" "severe, bedridden; EEG posterior temporal sharp; MRI brain normal" "3m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229681" "02777" "00302600" "00006" "Familial, autosomal recessive" "11m" "severe, bedridden; EEG normal; MRI brain normal" "3m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229682" "02777" "00302601" "00006" "Familial, autosomal recessive" "19m" "severe, bedridden; EEG slow background; MRI brain normal" "1m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" "0000229683" "02777" "00302602" "00006" "Familial, autosomal recessive" "15m" "severe, bedridden; EEG 2-3.5 Hz slow wave; MRI brain normal" "4m" "" "" "" "" "" "" "" "AADCD" "aromatic L-amino acid decarboxylase deficiency" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000289365" "00288196" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood, fibroblast" "WES" "0000295639" "00294471" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295640" "00294472" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295641" "00294473" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303703" "00302580" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303704" "00302581" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303705" "00302582" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303706" "00302583" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303707" "00302584" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303708" "00302585" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303709" "00302586" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303710" "00302587" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303711" "00302588" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303712" "00302589" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303713" "00302590" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303714" "00302591" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303715" "00302592" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303716" "00302593" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303717" "00302594" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303718" "00302595" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303719" "00302596" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303720" "00302597" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303721" "00302598" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303722" "00302599" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303723" "00302600" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303724" "00302601" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000303725" "00302602" "1" "00006" "00006" "2020-05-26 11:47:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000289365" "DDC" "0000303703" "DDC" "0000303704" "DDC" "0000303705" "DDC" "0000303706" "DDC" "0000303707" "DDC" "0000303708" "DDC" "0000303709" "DDC" "0000303710" "DDC" "0000303711" "DDC" "0000303712" "DDC" "0000303713" "DDC" "0000303714" "DDC" "0000303715" "DDC" "0000303716" "DDC" "0000303717" "DDC" "0000303718" "DDC" "0000303719" "DDC" "0000303720" "DDC" "0000303721" "DDC" "0000303722" "DDC" "0000303723" "DDC" "0000303724" "DDC" "0000303725" "DDC" ## 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 = 103 "{{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}}" "0000246575" "0" "10" "7" "50597052" "50597052" "subst" "0.00637678" "02330" "DDC_000019" "g.50597052A>G" "" "" "" "DDC(NM_001082971.2):c.436-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50529354A>G" "" "benign" "" "0000249302" "0" "30" "7" "50597052" "50597052" "subst" "0.00637678" "02325" "DDC_000019" "g.50597052A>G" "" "" "" "DDC(NM_001082971.2):c.436-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50529354A>G" "" "likely benign" "" "0000265257" "0" "10" "7" "50544314" "50544314" "subst" "0.209591" "02330" "DDC_000005" "g.50544314C>T" "" "" "" "DDC(NM_001082971.2):c.1041+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50476616C>T" "" "benign" "" "0000265258" "0" "10" "7" "50530987" "50530987" "subst" "0.0221144" "02330" "DDC_000003" "g.50530987C>T" "" "" "" "DDC(NM_000790.3):c.1385G>A (p.(Arg462Gln)), DDC(NM_001082971.2):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50463289C>T" "" "benign" "" "0000265259" "0" "10" "7" "50607694" "50607694" "subst" "0.0210361" "02330" "DDC_000011" "g.50607694G>A" "" "" "" "DDC(NM_001082971.2):c.234C>T (p.A78=), DDC-AS1(NR_033845.1):n.344G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50539996G>A" "" "benign" "" "0000265260" "0" "10" "7" "50597056" "50597056" "subst" "0.248358" "02330" "DDC_000009" "g.50597056G>A" "" "" "" "DDC(NM_001082971.2):c.436-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50529358G>A" "" "benign" "" "0000265261" "0" "10" "7" "50611735" "50611735" "subst" "0.998591" "02330" "DDC_000014" "g.50611735T>C" "" "" "" "DDC(NM_001082971.2):c.49A>G (p.M17V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50544037T>C" "" "benign" "" "0000265262" "0" "10" "7" "50595900" "50595900" "subst" "0.0268243" "02330" "DDC_000008" "g.50595900T>C" "" "" "" "DDC(NM_000790.3):c.649A>G (p.(Met217Val)), DDC(NM_001082971.2):c.649A>G (p.M217V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50528202T>C" "" "benign" "" "0000265263" "0" "10" "7" "50611688" "50611688" "subst" "0.00434504" "02330" "DDC_000013" "g.50611688G>A" "" "" "" "DDC(NM_001082971.1):c.96C>T (p.D32=), DDC(NM_001082971.2):c.96C>T (p.D32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50543990G>A" "" "benign" "" "0000265264" "0" "30" "7" "50560649" "50560649" "subst" "0.000573688" "02330" "DDC_000006" "g.50560649C>T" "" "" "" "DDC(NM_001242890.2):c.999G>A (p.A333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50492951C>T" "" "likely benign" "" "0000267290" "0" "10" "7" "50597056" "50597056" "subst" "0.248358" "02325" "DDC_000009" "g.50597056G>A" "" "" "" "DDC(NM_001082971.2):c.436-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50529358G>A" "" "benign" "" "0000267291" "0" "10" "7" "50611735" "50611735" "subst" "0.998591" "02325" "DDC_000014" "g.50611735T>C" "" "" "" "DDC(NM_001082971.2):c.49A>G (p.M17V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50544037T>C" "" "benign" "" "0000267292" "0" "30" "7" "50611688" "50611688" "subst" "0.00434504" "02325" "DDC_000013" "g.50611688G>A" "" "" "" "DDC(NM_001082971.1):c.96C>T (p.D32=), DDC(NM_001082971.2):c.96C>T (p.D32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50543990G>A" "" "likely benign" "" "0000274891" "0" "70" "7" "50530946" "50530946" "subst" "9.83099E-5" "01943" "DDC_000002" "g.50530946G>A" "" "" "" "DDC(NM_000790.3):c.1426C>T (p.(Arg476Ter)), DDC(NM_001082971.1):c.1426C>T (p.R476*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50463248G>A" "" "likely pathogenic" "" "0000274892" "0" "30" "7" "50607721" "50607721" "subst" "0.000110917" "01943" "DDC_000012" "g.50607721C>T" "" "" "" "DDC(NM_001082971.1):c.207G>A (p.T69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50540023C>T" "" "likely benign" "" "0000274893" "0" "30" "7" "50607667" "50607667" "subst" "6.50862E-5" "01943" "DDC_000020" "g.50607667C>T" "" "" "" "DDC(NM_001082971.1):c.261G>A (p.P87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50539969C>T" "" "likely benign" "" "0000274894" "0" "30" "7" "50611688" "50611688" "subst" "0.00434504" "01943" "DDC_000013" "g.50611688G>A" "" "" "" "DDC(NM_001082971.1):c.96C>T (p.D32=), DDC(NM_001082971.2):c.96C>T (p.D32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50543990G>A" "" "likely benign" "" "0000331572" "0" "30" "7" "50530937" "50530937" "subst" "0.000284907" "01804" "DDC_000001" "g.50530937T>C" "" "" "" "DDC(NM_000790.3):c.1435A>G (p.(Arg479Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50463239T>C" "" "likely benign" "" "0000331573" "0" "50" "7" "50534928" "50534928" "subst" "0" "01804" "DDC_000004" "g.50534928A>G" "" "" "" "DDC(NM_000790.3):c.1226T>C (p.(Val409Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50467230A>G" "" "VUS" "" "0000331574" "0" "50" "7" "50571757" "50571757" "subst" "0.000438614" "01804" "DDC_000007" "g.50571757T>A" "" "" "" "DDC(NM_000790.3):c.715A>T (p.(Met239Leu)), DDC(NM_001082971.1):c.715A>T (p.M239L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50504059T>A" "" "VUS" "" "0000331575" "0" "30" "7" "50595900" "50595900" "subst" "0.0268243" "01804" "DDC_000008" "g.50595900T>C" "" "" "" "DDC(NM_000790.3):c.649A>G (p.(Met217Val)), DDC(NM_001082971.2):c.649A>G (p.M217V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50528202T>C" "" "likely benign" "" "0000331577" "0" "30" "7" "50611606" "50611606" "subst" "6.09424E-5" "01804" "DDC_000032" "g.50611606C>T" "" "" "" "DDC(NM_000790.3):c.178G>A (p.(Val60Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50543908C>T" "" "likely benign" "" "0000331578" "0" "50" "7" "50611663" "50611663" "subst" "0.000113704" "01804" "DDC_000034" "g.50611663G>T" "" "" "" "DDC(NM_000790.3):c.121C>A (p.(Leu41Met)), DDC(NM_001082971.1):c.121C>A (p.L41M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50543965G>T" "" "VUS" "" "0000338337" "0" "10" "7" "50597056" "50597056" "subst" "0.248358" "02327" "DDC_000009" "g.50597056G>A" "" "" "" "DDC(NM_001082971.2):c.436-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50529358G>A" "" "benign" "" "0000338971" "0" "90" "7" "50537769" "50537769" "subst" "0" "02327" "DDC_000015" "g.50537769A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50470071A>G" "" "pathogenic" "" "0000340760" "0" "50" "7" "50566846" "50566846" "subst" "0" "02327" "DDC_000016" "g.50566846C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50499148C>T" "" "VUS" "" "0000345673" "0" "70" "7" "50605626" "50605626" "subst" "4.11421E-6" "02327" "DDC_000010" "g.50605626C>T" "" "" "" "DDC(NM_000790.4):c.367G>A (p.G123R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50537928C>T" "" "likely pathogenic" "" "0000351263" "0" "70" "7" "50595981" "50595981" "subst" "0" "02327" "DDC_000017" "g.50595981G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50528283G>C" "" "likely pathogenic" "" "0000532214" "0" "50" "7" "50530946" "50530946" "subst" "9.83099E-5" "01804" "DDC_000002" "g.50530946G>A" "" "" "" "DDC(NM_000790.3):c.1426C>T (p.(Arg476Ter)), DDC(NM_001082971.1):c.1426C>T (p.R476*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50463248G>A" "" "VUS" "" "0000532215" "0" "30" "7" "50530957" "50530957" "subst" "0" "01943" "DDC_000021" "g.50530957G>A" "" "" "" "DDC(NM_001082971.1):c.1415C>T (p.A472V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50463259G>A" "" "likely benign" "" "0000532216" "0" "30" "7" "50530987" "50530987" "subst" "0.0221144" "01804" "DDC_000003" "g.50530987C>T" "" "" "" "DDC(NM_000790.3):c.1385G>A (p.(Arg462Gln)), DDC(NM_001082971.2):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50463289C>T" "" "likely benign" "" "0000532217" "0" "70" "7" "50530993" "50530993" "subst" "0" "02327" "DDC_000022" "g.50530993A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50463295A>C" "" "likely pathogenic" "" "0000532218" "0" "90" "7" "50563094" "50563094" "del" "0" "02325" "DDC_000023" "g.50563094del" "" "" "" "DDC(NM_001082971.2):c.899delA (p.N300Ifs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50495396del" "" "pathogenic" "" "0000532219" "0" "30" "7" "50571755" "50571755" "subst" "0.00223363" "01804" "DDC_000024" "g.50571755C>A" "" "" "" "DDC(NM_000790.3):c.717G>T (p.(Met239Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50504057C>A" "" "likely benign" "" "0000532220" "0" "30" "7" "50595920" "50595920" "subst" "0.0030335" "02330" "DDC_000025" "g.50595920G>A" "" "" "" "DDC(NM_000790.3):c.629C>T (p.(Pro210Leu)), DDC(NM_001082971.2):c.629C>T (p.P210L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50528222G>A" "" "likely benign" "" "0000532221" "0" "30" "7" "50595920" "50595920" "subst" "0.0030335" "01804" "DDC_000025" "g.50595920G>A" "" "" "" "DDC(NM_000790.3):c.629C>T (p.(Pro210Leu)), DDC(NM_001082971.2):c.629C>T (p.P210L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50528222G>A" "" "likely benign" "" "0000532222" "0" "50" "7" "50596911" "50596911" "subst" "3.65539E-5" "02325" "DDC_000026" "g.50596911C>G" "" "" "" "DDC(NM_001082971.2):c.565G>C (p.D189H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529213C>G" "" "VUS" "" "0000532223" "0" "50" "7" "50605552" "50605552" "subst" "0.000288362" "01804" "DDC_000027" "g.50605552C>A" "" "" "" "DDC(NM_000790.3):c.435+6G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50537854C>A" "" "VUS" "" "0000532224" "0" "50" "7" "50605632" "50605632" "subst" "4.06081E-6" "01943" "DDC_000028" "g.50605632A>G" "" "" "" "DDC(NM_000790.4):c.361T>C (p.W121R), DDC(NM_001082971.1):c.361T>C (p.W121R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50537934A>G" "" "VUS" "" "0000532226" "0" "50" "7" "50607624" "50607624" "subst" "0" "02327" "DDC_000030" "g.50607624C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50539926C>A" "" "VUS" "" "0000532228" "0" "30" "7" "50611651" "50611651" "subst" "1.62442E-5" "01943" "DDC_000033" "g.50611651C>T" "" "" "" "DDC(NM_001082971.1):c.133G>A (p.A45T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50543953C>T" "" "likely benign" "" "0000532229" "0" "70" "7" "50611711" "50611711" "subst" "8.12137E-6" "02327" "DDC_000035" "g.50611711C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50544013C>T" "" "likely pathogenic" "" "0000532230" "0" "30" "7" "50611777" "50611777" "subst" "2.03148E-5" "01804" "DDC_000036" "g.50611777C>T" "" "" "" "DDC(NM_000790.3):c.7G>A (p.(Ala3Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50544079C>T" "" "likely benign" "" "0000621903" "0" "30" "7" "50611655" "50611655" "subst" "0" "02325" "DDC_000037" "g.50611655A>G" "" "" "" "DDC(NM_001082971.2):c.129T>C (p.P43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50543957A>G" "" "likely benign" "" "0000645294" "3" "70" "7" "50597030" "50597030" "subst" "2.03199E-5" "00006" "DDC_000041" "g.50597030C>G" "" "{PMID:Lee 2019:31607746}" "" "" "" "Germline" "" "" "0" "" "" "g.50529332C>G" "{CV:000926987.1}" "likely pathogenic (dominant)" "" "0000652328" "1" "30" "7" "50530987" "50530987" "subst" "0.0221144" "03575" "DDC_000003" "g.50530987C>T" "73/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "73 heterozygous, no homozygous; {DB:CLININrs11575542}" "Germline" "" "rs11575542" "0" "" "" "g.50463289C>T" "" "likely benign" "" "0000652329" "1" "30" "7" "50595900" "50595900" "subst" "0.0268243" "03575" "DDC_000008" "g.50595900T>C" "81/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "81 heterozygous; {DB:CLININrs6263}" "Germline" "" "rs6263" "0" "" "" "g.50528202T>C" "" "likely benign" "" "0000652330" "1" "30" "7" "50595920" "50595920" "subst" "0.0030335" "03575" "DDC_000025" "g.50595920G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs6262}" "Germline" "" "rs6262" "0" "" "" "g.50528222G>A" "" "likely benign" "" "0000667070" "3" "90" "7" "50607624" "50607624" "subst" "4.07279E-6" "00006" "DDC_000050" "g.50607624C>T" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50539926C>T" "" "pathogenic (recessive)" "" "0000667071" "1" "90" "7" "50547484" "50547484" "subst" "0" "00006" "DDC_000046" "g.50547484C>T" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50479786C>T" "" "pathogenic (recessive)" "" "0000667072" "1" "90" "7" "50596998" "50596998" "subst" "0" "00006" "DDC_000049" "g.50596998G>C" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50529300G>C" "" "pathogenic (recessive)" "" "0000667073" "1" "90" "7" "50611782" "50611782" "subst" "0" "00006" "DDC_000057" "g.50611782A>G" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50544084A>G" "" "pathogenic (recessive)" "" "0000667074" "3" "90" "7" "50595831" "50595831" "subst" "0.000215407" "00006" "DDC_000047" "g.50595831T>A" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50528133T>A" "" "pathogenic (recessive)" "" "0000667075" "3" "90" "7" "50595831" "50595831" "subst" "0.000215407" "00006" "DDC_000047" "g.50595831T>A" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50528133T>A" "" "pathogenic (recessive)" "" "0000667076" "3" "90" "7" "50595831" "50595831" "subst" "0.000215407" "00006" "DDC_000047" "g.50595831T>A" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50528133T>A" "" "pathogenic (recessive)" "" "0000667077" "3" "90" "7" "50595831" "50595831" "subst" "0.000215407" "00006" "DDC_000047" "g.50595831T>A" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50528133T>A" "" "pathogenic (recessive)" "" "0000667078" "1" "90" "7" "50595831" "50595831" "subst" "0.000215407" "00006" "DDC_000047" "g.50595831T>A" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50528133T>A" "" "pathogenic (recessive)" "" "0000667079" "1" "90" "7" "50534920" "50534920" "subst" "1.21848E-5" "00006" "DDC_000045" "g.50534920G>A" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50467222G>A" "" "pathogenic (recessive)" "" "0000667080" "1" "90" "7" "50534920" "50534920" "subst" "1.21848E-5" "00006" "DDC_000045" "g.50534920G>A" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50467222G>A" "" "pathogenic (recessive)" "" "0000667081" "1" "90" "7" "50611605" "50611605" "subst" "1.2187E-5" "00006" "DDC_000053" "g.50611605A>G" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50543907A>G" "" "pathogenic (recessive)" "" "0000667082" "1" "90" "7" "50611605" "50611605" "subst" "1.2187E-5" "00006" "DDC_000053" "g.50611605A>G" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50543907A>G" "" "pathogenic (recessive)" "" "0000667083" "1" "90" "7" "50531081" "50531081" "dup" "0" "00006" "DDC_000044" "g.50531081dup" "" "{PMID:Wen 2020:32409695}" "" "1297dupA" "" "Germline" "" "" "0" "" "" "g.50463383dup" "" "pathogenic (recessive)" "" "0000667084" "1" "90" "7" "50531081" "50531081" "dup" "0" "00006" "DDC_000044" "g.50531081dup" "" "{PMID:Wen 2020:32409695}" "" "1297dupA" "" "Germline" "" "" "0" "" "" "g.50463383dup" "" "pathogenic (recessive)" "" "0000667085" "1" "90" "7" "50531033" "50531033" "subst" "8.12209E-6" "00006" "DDC_000042" "g.50531033G>A" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50463335G>A" "" "pathogenic (recessive)" "" "0000667086" "1" "90" "7" "50611678" "50611678" "subst" "1.21822E-5" "00006" "DDC_000056" "g.50611678C>T" "" "{PMID:Wen 2020:32409695}" "" "" "" "Germline" "" "" "0" "" "" "g.50543980C>T" "" "pathogenic (recessive)" "" "0000667087" "1" "90" "7" "50611609" "50611609" "subst" 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Zhi 37:365" "" "" "" "Germline" "" "" "0" "" "" "g.50543916A>G" "" "pathogenic (recessive)" "" "0000667110" "2" "90" "7" "50611605" "50611605" "subst" "1.2187E-5" "00006" "DDC_000053" "g.50611605A>G" "" "{PMID:Wen 2020:32409695}, Chen 2019, Linchuang Er Ke Za Zhi 37:365" "" "" "" "Germline" "" "" "0" "" "" "g.50543907A>G" "" "pathogenic (recessive)" "" "0000678127" "0" "90" "7" "50544323" "50544323" "subst" "4.5024E-5" "02327" "DDC_000058" "g.50544323C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678128" "0" "50" "7" "50595870" "50595870" "subst" "0" "02327" "DDC_000059" "g.50595870C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690024" "0" "30" "7" "50571757" "50571757" "subst" "0.000438614" "01943" "DDC_000007" "g.50571757T>A" "" "" "" "DDC(NM_000790.3):c.715A>T (p.(Met239Leu)), DDC(NM_001082971.1):c.715A>T (p.M239L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690025" "0" "50" "7" "50611663" "50611663" "subst" "0.000113704" "01943" "DDC_000034" "g.50611663G>T" "" "" "" "DDC(NM_000790.3):c.121C>A (p.(Leu41Met)), DDC(NM_001082971.1):c.121C>A (p.L41M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803181" "0" "30" "7" "50531010" "50531010" "subst" "0.000146219" "01943" "DDC_000060" "g.50531010C>T" "" "" "" "DDC(NM_001082971.1):c.1362G>A (p.T454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912765" "0" "30" "7" "50530987" "50530987" "subst" "0.0221144" "02327" "DDC_000003" "g.50530987C>T" "" "" "" "DDC(NM_000790.3):c.1385G>A (p.(Arg462Gln)), DDC(NM_001082971.2):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912766" "0" "50" "7" "50534952" "50534952" "subst" "0" "02329" "DDC_000061" "g.50534952C>T" "" "" "" "DDC(NM_001082971.1):c.1202G>A (p.C401Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912767" "0" "90" "7" "50605626" "50605626" "subst" "4.11421E-6" "02325" "DDC_000010" "g.50605626C>T" "" "" "" "DDC(NM_000790.4):c.367G>A (p.G123R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977771" "0" "50" "7" "50531128" "50531128" "subst" "4.06114E-6" "01804" "DDC_000062" "g.50531128C>T" "" "" "" "DDC(NM_001082971.2):c.1244G>A (p.(Gly415Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996565" "0" "50" "7" "50571757" "50571757" "subst" "0" "01804" "DDC_000063" "g.50571757T>C" "" "" "" "DDC(NM_001082971.1):c.715A>G (p.(Met239Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996566" "0" "90" "7" "50595580" "50595580" "subst" "0" "02327" "DDC_000064" "g.50595580G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025404" "0" "70" "7" "50605632" "50605632" "subst" "4.06081E-6" "02325" "DDC_000028" "g.50605632A>G" "" "" "" "DDC(NM_000790.4):c.361T>C (p.W121R), DDC(NM_001082971.1):c.361T>C (p.W121R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036442" "0" "90" "7" "50537838" "50537838" "subst" "8.12447E-6" "01804" "DDC_000065" "g.50537838C>T" "" "" "" "DDC(NM_001082971.2):c.1073G>A (p.(Arg358His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036443" "0" "50" "7" "50566868" "50566868" "subst" "5.69032E-5" "01804" "DDC_000066" "g.50566868C>T" "" "" "" "DDC(NM_001082971.2):c.854G>A (p.(Arg285Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 DDC ## Count = 103 "{{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}}" "0000246575" "00006195" "10" "436" "-12" "436" "-12" "c.436-12T>C" "r.(=)" "p.(=)" "" "0000249302" "00006195" "30" "436" "-12" "436" "-12" "c.436-12T>C" "r.(=)" "p.(=)" "" "0000265257" "00006195" "10" "1041" "8" "1041" "8" "c.1041+8G>A" "r.(=)" "p.(=)" "" "0000265258" "00006195" "10" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000265259" "00006195" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Ala78=)" "" "0000265260" "00006195" "10" "436" "-16" "436" "-16" "c.436-16C>T" "r.(=)" "p.(=)" "" "0000265261" "00006195" "10" "49" "0" "49" "0" "c.49=" "r.(=)" "p.(Val17=)" "" "0000265262" "00006195" "10" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Met217Val)" "" "0000265263" "00006195" "10" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Asp32=)" "" "0000265264" "00006195" "30" "944" "2399" "944" "2399" "c.944+2399G>A" "r.(=)" "p.(=)" "" "0000267290" "00006195" "10" "436" "-16" "436" "-16" "c.436-16C>T" "r.(=)" "p.(=)" "" "0000267291" "00006195" "10" "49" "0" "49" "0" "c.49=" "r.(=)" "p.(Val17=)" "" "0000267292" "00006195" "30" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Asp32=)" "" "0000274891" "00006195" "70" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476Ter)" "" "0000274892" "00006195" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Thr69=)" "" "0000274893" "00006195" "30" "261" "0" "261" "0" "c.261G>A" "r.(?)" "p.(Pro87=)" "" "0000274894" "00006195" "30" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Asp32=)" "" "0000331572" "00006195" "30" "1435" "0" "1435" "0" "c.1435A>G" "r.(?)" "p.(Arg479Gly)" "" "0000331573" "00006195" "50" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Val409Ala)" "" "0000331574" "00006195" "50" "715" "0" "715" "0" "c.715A>T" "r.(?)" "p.(Met239Leu)" "" "0000331575" "00006195" "30" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Met217Val)" "" "0000331577" "00006195" "30" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Val60Ile)" "" "0000331578" "00006195" "50" "121" "0" "121" "0" "c.121C>A" "r.(?)" "p.(Leu41Met)" "" "0000338337" "00006195" "10" "436" "-16" "436" "-16" "c.436-16C>T" "r.(=)" "p.(=)" "" "0000338971" "00006195" "90" "1140" "2" "1140" "2" "c.1140+2T>C" "r.spl?" "p.?" "" "0000340760" "00006195" "50" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(Glu292=)" "" "0000345673" "00006195" "70" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "" "0000351263" "00006195" "70" "571" "-3" "571" "-3" "c.571-3C>G" "r.spl?" "p.?" "" "0000532214" "00006195" "50" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476Ter)" "" "0000532215" "00006195" "30" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Ala472Val)" "" "0000532216" "00006195" "30" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000532217" "00006195" "70" "1379" "0" "1379" "0" "c.1379T>G" "r.(?)" "p.(Val460Gly)" "" "0000532218" "00006195" "90" "899" "0" "899" "0" "c.899del" "r.(?)" "p.(Asn300IlefsTer8)" "" "0000532219" "00006195" "30" "717" "0" "717" "0" "c.717G>T" "r.(?)" "p.(Met239Ile)" "" "0000532220" "00006195" "30" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Pro210Leu)" "" "0000532221" "00006195" "30" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Pro210Leu)" "" "0000532222" "00006195" "50" "565" "0" "565" "0" "c.565G>C" "r.(?)" "p.(Asp189His)" "" "0000532223" "00006195" "50" "435" "6" "435" "6" "c.435+6G>T" "r.(=)" "p.(=)" "" "0000532224" "00006195" "50" "361" "0" "361" "0" "c.361T>C" "r.(?)" "p.(Trp121Arg)" "" "0000532226" "00006195" "50" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Gly102Cys)" "" "0000532228" "00006195" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000532229" "00006195" "70" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Glu25Lys)" "" "0000532230" "00006195" "30" "7" "0" "7" "0" "c.7G>A" "r.(?)" "p.(Ala3Thr)" "" "0000621903" "00006195" "30" "129" "0" "129" "0" "c.129T>C" "r.(?)" "p.(Pro43=)" "" "0000645294" "00006195" "70" "446" "0" "446" "0" "c.446G>C" "r.(?)" "p.(Ser149Thr)" "" "0000652328" "00006195" "30" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000652329" "00006195" "30" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Met217Val)" "" "0000652330" "00006195" "30" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Pro210Leu)" "" "0000667070" "00006195" "90" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Gly102Ser)" "" "0000667071" "00006195" "90" "1021" "1" "1021" "1" "c.1021+1G>A" "r.spl" "p.?" "" "0000667072" "00006195" "90" "478" "0" "478" "0" "c.478C>G" "r.(?)" "p.(Arg160Gly)" "" "0000667073" "00006195" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "" "0000667074" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667075" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667076" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667077" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667078" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667079" "00006195" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Trp)" "" "0000667080" "00006195" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Trp)" "" "0000667081" "00006195" "90" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Val60Ala)" "" "0000667082" "00006195" "90" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Val60Ala)" "" "0000667083" "00006195" "90" "1297" "0" "1297" "0" "c.1297dup" "r.(?)" "p.(Ile433Asnfs*60)" "" "0000667084" "00006195" "90" "1297" "0" "1297" "0" "c.1297dup" "r.(?)" "p.(Ile433Asnfs*60)" "" "0000667085" "00006195" "90" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Cys)" "" "0000667086" "00006195" "90" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Gly36Arg)" "" "0000667087" "00006195" "90" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Asp59Asn)" "" "0000667088" "00006195" "90" "1312" "0" "1312" "0" "c.1312T>C" "r.(?)" "p.(Cys438Arg)" "" "0000667089" "00006195" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Trp)" "" "0000667090" "00006195" "90" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Asp59Asn)" "" "0000667091" "00006195" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Trp)" "" "0000667092" "00006195" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Trp)" "" "0000667093" "00006195" "90" "299" "0" "299" "0" "c.299G>C" "r.(?)" "p.(Cys100Ser)" "" "0000667094" "00006195" "90" "565" "0" "565" "0" "c.565G>T" "r.(?)" "p.(Asp189Tyr)" "" "0000667095" "00006195" "90" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Met93Val)" "" "0000667096" "00006195" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Trp)" "" "0000667097" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667098" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667099" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667100" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667101" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667102" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667103" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667104" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667105" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667106" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667107" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667108" "00006195" "90" "714" "4" "714" "4" "c.714+4A>T" "r.spl" "p.?" "" "0000667109" "00006195" "90" "170" "0" "170" "0" "c.170T>C" "r.(?)" "p.(Ile57Thr)" "" "0000667110" "00006195" "90" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Val60Ala)" "" "0000678127" "00006195" "90" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347Gln)" "" "0000678128" "00006195" "50" "679" "0" "679" "0" "c.679G>C" "r.(?)" "p.(Glu227Gln)" "" "0000690024" "00006195" "30" "715" "0" "715" "0" "c.715A>T" "r.(?)" "p.(Met239Leu)" "" "0000690025" "00006195" "50" "121" "0" "121" "0" "c.121C>A" "r.(?)" "p.(Leu41Met)" "" "0000803181" "00006195" "30" "1362" "0" "1362" "0" "c.1362G>A" "r.(?)" "p.(Thr454=)" "" "0000912765" "00006195" "30" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000912766" "00006195" "50" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Cys401Tyr)" "" "0000912767" "00006195" "90" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "" "0000977771" "00006195" "50" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Gly415Asp)" "" "0000996565" "00006195" "50" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Met239Val)" "" "0000996566" "00006195" "90" "714" "255" "714" "255" "c.714+255C>A" "r.(=)" "p.(=)" "" "0001025404" "00006195" "70" "361" "0" "361" "0" "c.361T>C" "r.(?)" "p.(Trp121Arg)" "" "0001036442" "00006195" "90" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358His)" "" "0001036443" "00006195" "50" "854" "0" "854" "0" "c.854G>A" "r.(?)" "p.(Arg285Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000289365" "0000645294" "0000295639" "0000652328" "0000295640" "0000652329" "0000295641" "0000652330" "0000303703" "0000667070" "0000303704" "0000667071" "0000303704" "0000667093" "0000303705" "0000667072" "0000303705" "0000667094" "0000303706" "0000667073" "0000303706" "0000667095" "0000303707" "0000667074" "0000303708" "0000667075" "0000303709" "0000667076" "0000303710" "0000667077" "0000303711" "0000667078" "0000303711" "0000667096" "0000303712" "0000667079" "0000303712" "0000667097" "0000303713" "0000667080" "0000303713" "0000667098" "0000303714" "0000667081" "0000303714" "0000667099" "0000303715" "0000667082" "0000303715" "0000667100" "0000303716" "0000667083" "0000303716" "0000667101" "0000303717" "0000667084" "0000303717" "0000667102" "0000303718" "0000667085" "0000303718" "0000667103" "0000303719" "0000667086" "0000303719" "0000667104" "0000303720" "0000667087" "0000303720" "0000667105" "0000303721" "0000667088" "0000303721" "0000667106" "0000303722" "0000667089" "0000303722" "0000667107" "0000303723" "0000667090" "0000303723" "0000667108" "0000303724" "0000667091" "0000303724" "0000667109" "0000303725" "0000667092" "0000303725" "0000667110"