### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DDB1) # 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}}" "DDB1" "damage-specific DNA binding protein 1, 127kDa" "11" "q12-q13" "unknown" "NG_032697.2" "UD_136086525472" "" "https://www.LOVD.nl/DDB1" "" "1" "2717" "1642" "600045" "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/DDB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-02 15:49:38" "00000" "2026-01-20 18:57:21" ## 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}}" "00006193" "DDB1" "damage-specific DNA binding protein 1, 127kDa" "001" "NM_001923.4" "" "NP_001914.3" "" "" "" "-244" "4112" "3423" "61100684" "61066919" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DDB1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00207965" "" "" "" "1" "" "03122" "" "" "" "" "Brazil" "" "0" "" "" "" "" "00359620" "" "" "" "1" "" "00006" "{PMID:White 2021:33743206}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "white, Europe-North" "Pat1" "00359621" "" "" "" "1" "" "00006" "{PMID:White 2021:33743206}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "Pat2" "00359622" "" "" "" "1" "" "00006" "{PMID:White 2021:33743206}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "" "" "Pat3" "00359623" "" "" "" "1" "" "00006" "{PMID:White 2021:33743206}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Australia" "" "0" "" "" "white" "Pat4" "00359624" "" "" "" "1" "" "00006" "{PMID:White 2021:33743206}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Armenia" "" "0" "" "" "" "Pat5" "00359625" "" "" "" "1" "" "00006" "{PMID:White 2021:33743206}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "white" "Pat6" "00359626" "" "" "" "1" "" "00006" "{PMID:White 2021:33743206}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "white, Slavic" "Pat7" "00359627" "" "" "" "1" "" "00006" "{PMID:White 2021:33743206}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Mexico" "" "0" "" "" "" "Pat8" "00443865" "" "" "" "1" "" "04602" "" "" "F" "yes" "Turkey" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00207965" "00198" "00359620" "05611" "00359621" "05611" "00359622" "05611" "00359623" "05611" "00359624" "05611" "00359625" "05611" "00359626" "05611" "00359627" "05611" "00443865" "05162" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05162, 05611 ## Count = 10 "{{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}}" "0000155746" "00198" "00207965" "03122" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "thalidomide embryopathy" "" "0000254893" "05611" "00359620" "00006" "Isolated (sporadic)" "17y" "birth 38w, weight 2040g (<3rd centile, length 47cm (10 centile); neonatal jaundice, nasogastric tube feeding (1w); weight 80.3kg 16y9m (95th percentile), 88kg 18y2m (97th centile), length 150.4cm 18y2m (2nd percentile); anterior anus with rectovaginal fistula; moderate hypotonia; moderate intellectual disability; normal vision; normal hearing; no seizures; MRI-brain mild ventriculomegaly; thick, light blonde eyebrows; deep-set eyes, upslanting palpebral fissures, epicanthic folds; early childhood short nose; very round cheeks; thin upper vermilion border, wide mouth; large ears with large and long ear lobes; short neck with excess skin at base neck (posterior thickening); fair skin; joint laxity; very small hands and feet, fourth metacarpal shortening bilaterally, brachydactyly; ADHD and anxiety requiring medication, hypothyroidism, recurrent otitis media" "12m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000254894" "05611" "00359621" "00006" "Isolated (sporadic)" "9y2m" "birth 40w, weight 2500g (3-10th centile), length 49cm (42nd centile); neonatal hypoglycemia, tachypnea (birth), admitted to NICU for 1m; weight 52.7kg 9y2m (>97th centile), length 137cm 9y2m (75th centile), OFC 51cm 9y 2m (50th centile); accessory band across left ventricle heart, horseshoe kidney, anterior ectopic anus; moderate hypotonia; moderate intellectual disability; normal vision; bilateral hearing loss, wears aids; no seizures; MRI-brain thinning posterior body corpus callosum, non-specific abnormal signal genu corpus callosum, ventriculomegaly; prominent, straight and dark eyebrows with synophrys; long palpebral fissures with lateral extension, epicanthus inversus, long dark eyelashes, striking blue irides; short nose with small nares, hypoplastic alae nasi, narrow base, high nasal bridge; mid-face hypoplasia; normal mouth; low-set large ears with long fleshy lobes; short neck; hirsutism on back, fibro-fatty deposition lateral dorsal aspect torso with thickened overlying skin ; significant cutaneous syndactyly of 2-3 toes, brachydactyly, tapering fingers; nasal voice with some articulation difficulties, marked truncal obesity" "3y10m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000254895" "05611" "00359622" "00006" "Isolated (sporadic)" "10y8m" "birth 42w, weight 4040g (70th centile), length 54cm (60th centile), OFC 37cm (74th centile); weight 52.8kg 10y8m (>97th centile), length 138cm 10y8m (95th centile), OFC 53cm 10y 8m (79th centile); mild hypotonia; moderate developmental delay; normal vision; normal hearing; no seizures; synophrys; small eyes; normal nose; normal midface; normal mouth; large earlobes; normal neck; normal skin; short toes; frequent otitis media" "10y8m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000254896" "05611" "00359623" "00006" "Isolated (sporadic)" "3y" "birth 42w, weight 3480g (70th centile), length 52cm (93rd centile), OFC 34.5 (60th centile); weight 12.35kg 3y (4th centile), length 90cm 3y (14th centile), OFC 47cm 3y (5th centile); no hypotonia; mild intellectual disability (IQ69); hypermetropia, strabismus; conductive hearing loss requiring tympanostomy tubes; no seizures; MRI-brain mild delayed myelination; straight, dark, eyebrows with medial flare, lateral extension; lateral extension to palpebral fissures; short nose; midface hypoplasia; thin upper vermilion border; large ears with fleshy lobes; short neck; soft skin; short toes; 2y9m-obstructive sleep apnoea requiring adeno-tonsillectomy" "9m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000254897" "05611" "00359624" "00006" "Isolated (sporadic)" "13y" "birth 36w, weight 2900g (25-50th centile), length 47cm (50th centile); neonatal feeding difficulties, jaundice; weight 45.5kg 13y9m (25-50th centile), BMI 23,55 (+1.85 SD), length 139cm 13y9m (<1st centile), OFC 52.4cm 13y9m (10-25th centile); horseshoe kidney with left vesico-ureteric reflux, pelvicalyceal dilatation kidney, megaureter; moderate hypotonia; mild-moderate intellectual disability; esotropia, hypermetropia, nystagmus; normal hearing; no seizures; dark, straight, heavy eyebrows; normal eyes; normal nose; round face,; mild midface hypoplasia, full cheeks; protruding upper lip, thin vermillion border, maxillary overbite, asymmetric occlusion of teeth; large fleshy ears and earlobes; short neck; hirsutism; short toes" "9y9m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000254898" "05611" "00359625" "00006" "Isolated (sporadic)" "22m" "birth 38w, weight 2960g (23rd centile); neonatal hypotonia, temperature instability, hypoglycemia, torticollis; weight 13.05kg 22m (82nd centile), length 87.6cm 18m (98th centile), OFC 48.2cm 18m (73rd centile); moderate hypotonia; mild intellectual disability; strabismus; normal hearing; episodes of eye rolling and head movement, no confirmed seizures; MRI-brain bilateral linear T2, flair hyperintensities central segmental tract pons; medial flare eyebrows; telecanthus, lateral extension to palpebral fissures, epicanthal folds with long eyelashes; small narrownose with narrow alae nasi; normal midface; ankyloglossia (underwent frenotomy), retrognathia, narrow tented lip; low set and fleshy ears; torticollis ; integumentary papules on chin" "6m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000254899" "05611" "00359626" "00006" "Isolated (sporadic)" "2y11m" "birth 41w, weight 3180g (12th centile), length 51cm (72nd centile), OC 35cm (31st centile); ; weight 12.9kg 2y5m (36th centile), length 86.2cm 2y5m (11th centile), OFC 49.7cm 2y5m (25th centile); mild left hydronephrosis; moderate hypotonia; moderate developmental delay; convergent strabismus, nystagmus; normal hearing; no seizures; MRI-brain mild dilation lateral ventricles, thin corpus callosum; normal eyebrows; deeply set eyes, inner canthal folds, hypotelorism, convergent strabismus, nystagmus; small and upturned nose, hypoplastic alae nasi; full cheeks; normal mouth; large ears with simple morphology; normal neck; mild cutis laxa; 2-3 toe partial syndactyly; gastro-esophageal reflux" "4m15d" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000254900" "05611" "00359627" "00006" "Isolated (sporadic)" "1y" "neonatal hypotonia; metopic craniosynostosis; moderate hypotonia; moderate developmental delay; normal vision; normal hearing; no seizures; medial flare eyebrows; apparent telecanthus with proptosis, epicanthus inversus; depressed nasal bridge; mid-face hypoplasia; normal mouth; normal ears; normal neck; normal skin" "1y" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000333141" "05162" "00443865" "04602" "Familial, autosomal recessive" "05y" "Spastic diplegia (HP:0001264)\r\nBulbar signs (HP:0002483)\r\nFlexion contracture (HP:0001371)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000209010" "00207965" "1" "03122" "03122" "2018-12-05 03:56:18" "" "" "SEQ-NG-IT" "DNA" "" "" "0000360850" "00359620" "1" "00006" "00006" "2021-04-02 17:28:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360851" "00359621" "1" "00006" "00006" "2021-04-02 17:28:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360852" "00359622" "1" "00006" "00006" "2021-04-02 17:28:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360853" "00359623" "1" "00006" "00006" "2021-04-02 17:28:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360854" "00359624" "1" "00006" "00006" "2021-04-02 17:28:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360855" "00359625" "1" "00006" "00006" "2021-04-02 17:28:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360856" "00359626" "1" "00006" "00006" "2021-04-02 17:28:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000360857" "00359627" "1" "00006" "00006" "2021-04-02 17:28:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000445362" "00443865" "1" "04602" "04602" "2023-12-04 12:46:19" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000209010" "DDB1" "0000360850" "DDB1" "0000360851" "DDB1" "0000360852" "DDB1" "0000360853" "DDB1" "0000360854" "DDB1" "0000360855" "DDB1" "0000360856" "DDB1" "0000360857" "DDB1" "0000445362" "DDB1" ## 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 = 50 "{{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}}" "0000322256" "0" "70" "11" "61094272" "61094272" "subst" "0" "01804" "DDB1_000001" "g.61094272C>T" "" "" "" "DDB1(NM_001923.4):c.643G>A (p.(Glu215Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61326800C>T" "" "likely pathogenic" "" "0000439088" "0" "50" "11" "61092991" "61092991" "subst" "0" "03122" "DDB1_000002" "g.61092991G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.61325519G>T" "" "VUS" "" "0000439089" "0" "50" "11" "61099072" "61099072" "subst" "0.0715597" "03122" "DDB1_000003" "g.61099072G>A" "" "" "S35_Thalidomide" "" "" "Germline/De novo (untested)" "" "rs2230356" "0" "" "" "g.61331600G>A" "" "VUS" "" "0000439090" "0" "50" "11" "61100308" "61100308" "subst" "0" "03122" "DDB1_000004" "g.61100308G>C" "" "" "S35_Thalidomide" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.61332836G>C" "" "VUS" "" "0000691098" "0" "30" "11" "61091529" "61091529" "subst" "8.12183E-6" "01943" "DAK_000003" "g.61091529G>A" "" "" "" "DDB1(NM_001923.4):c.843C>T (p.F281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000760962" "0" "90" "11" "61094360" "61094368" "del" "0" "00006" "DDB1_000009" "g.61094360_61094368del" "" "{PMID:White 2021:33743206}" "" "" "" "De novo" "" "" "0" "" "" "g.61326888_61326896del" "" "pathogenic (dominant)" "" "0000760963" "0" "90" "11" "61094353" "61094353" "subst" "0" "00006" "DDB1_000008" "g.61094353G>A" "" "{PMID:White 2021:33743206}" "" "" "" "De novo" "" "" "0" "" "" "g.61326881G>A" "" "pathogenic (dominant)" "" "0000760964" "0" "90" "11" "61094352" "61094352" "subst" "0" "00006" "DDB1_000007" "g.61094352C>T" "" "{PMID:White 2021:33743206}" "" "" "" "De novo" "" "" "0" "" "" "g.61326880C>T" "" "pathogenic (dominant)" "" "0000760965" "0" "90" "11" "61094278" "61094278" "subst" "0" "00006" "DDB1_000006" "g.61094278C>T" "" "{PMID:White 2021:33743206}" "" "" "" "De novo" "" "" "0" "" "" "g.61326806C>T" "" "pathogenic (dominant)" "" "0000760966" "0" "90" "11" "61094278" "61094278" "subst" "0" "00006" "DDB1_000006" "g.61094278C>T" "" "{PMID:White 2021:33743206}" "" "" "" "De novo" "" "" "0" "" "" "g.61326806C>T" "" "pathogenic (dominant)" "" "0000760967" "0" "90" "11" "61094278" "61094278" "subst" "0" "00006" "DDB1_000006" "g.61094278C>T" "" "{PMID:White 2021:33743206}" "" "" "" "De novo" "" "" "0" "" "" "g.61326806C>T" "" "pathogenic (dominant)" "" "0000760968" "0" "90" "11" "61094278" "61094278" "subst" "0" "00006" "DDB1_000006" "g.61094278C>T" "" "{PMID:White 2021:33743206}" "" "" "" "De novo" "" "" "0" "" "" "g.61326806C>T" "" "pathogenic (dominant)" "" "0000760969" "0" "90" "11" "61083980" "61083980" "subst" "0" "00006" "DDB1_000005" "g.61083980A>C" "" "{PMID:White 2021:33743206}" "" "" "" "De novo" "" "" "0" "" "" "g.61316508A>C" "" "pathogenic (dominant)" "" "0000842215" "0" "50" "11" "61097043" "61097043" "subst" "0" "03779" "DDB1_000010" "g.61097043C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1231861984" "0" "" "" "" "" "VUS" "" "0000889995" "0" "50" "11" "61093129" "61093129" "subst" "0" "02327" "DAK_000005" "g.61093129T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949720" "0" "50" "11" "61081782" "61081782" "subst" "1.24162E-5" "02325" "DAK_000006" "g.61081782G>C" "" "" "" "DDB1(NM_001923.5):c.1587C>G (p.I529M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952280" "3" "90" "11" "61077264" "61077264" "subst" "0" "04602" "DDB1_000011" "g.61077264T>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.61309792T>C" "" "VUS" "" "0000979670" "0" "30" "11" "61068412" "61068412" "subst" "8.12526E-6" "01804" "DAK_000007" "g.61068412G>A" "" "" "" "DDB1(NM_001923.5):c.3216-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979671" "0" "30" "11" "61070233" "61070233" "subst" "1.63404E-5" "01804" "DAK_000008" "g.61070233G>A" "" "" "" "DDB1(NM_001923.5):c.2943-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979672" "0" "50" "11" "61081359" "61081359" "subst" "8.12354E-6" "01804" "DAK_000009" "g.61081359G>T" "" "" "" "DDB1(NM_001923.5):c.1836C>A (p.(Phe612Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979673" "0" "50" "11" "61091613" "61091613" "subst" "0" "01804" "DAK_000010" "g.61091613C>A" "" "" "" "DDB1(NM_001923.5):c.763-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979674" "0" "50" "11" "61091614" "61091614" "subst" "0" "01804" "DAK_000011" "g.61091614C>A" "" "" "" "DDB1(NM_001923.5):c.763-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979675" "0" "30" "11" "61106765" "61106765" "subst" "0.00254543" "01804" "CYBASC3_000004" "g.61106765G>A" "" "" "" "TKFC(NM_015533.4):c.344G>A (p.(Arg115Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979676" "0" "50" "11" "61106876" "61106876" "subst" "0.000103049" "01804" "CYBASC3_000005" "g.61106876G>C" "" "" "" "TKFC(NM_015533.4):c.455G>C (p.(Arg152Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979677" "0" "30" "11" "61111319" "61111319" "subst" "0" "01804" "CYBASC3_000006" "g.61111319T>C" "" "" "" "TKFC(NM_015533.4):c.983-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979678" "0" "30" "11" "61111733" "61111733" "subst" "0.000203859" "01804" "CYBASC3_000007" "g.61111733C>T" "" "" "" "TKFC(NM_015533.4):c.1228C>T (p.(Arg410Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979679" "0" "50" "11" "61120544" "61120544" "subst" "9.34549E-5" "01804" "CYBASC3_000008" "g.61120544G>T" "" "" "" "CYB561A3(NM_153611.4):c.461C>A (p.(Pro154His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999180" "0" "50" "11" "61076501" "61076501" "subst" "0" "01804" "DAK_000012" "g.61076501G>A" "" "" "" "DDB1(NM_001923.4):c.2615C>T (p.(Ser872Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999181" "0" "50" "11" "61081049" "61081049" "subst" "4.06068E-6" "01804" "DAK_000013" "g.61081049T>C" "" "" "" "DDB1(NM_001923.4):c.1991A>G (p.(His664Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999182" "0" "50" "11" "61096858" "61096858" "subst" "0" "01804" "CYBASC3_000009" "g.61096858G>A" "" "" "" "DDB1(NM_001923.4):c.526C>T (p.(Pro176Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999183" "0" "70" "11" "61097044" "61097044" "subst" "0" "01804" "CYBASC3_000010" "g.61097044G>A" "" "" "" "DDB1(NM_001923.4):c.340C>T (p.(Arg114Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999184" "0" "50" "11" "61109957" "61109957" "subst" "3.65491E-5" "01804" "CYBASC3_000011" "g.61109957G>A" "" "" "" "DAK(NM_015533.3):c.680G>A (p.(Arg227His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014846" "0" "50" "11" "61067657" "61067657" "subst" "0" "02325" "DAK_000014" "g.61067657G>A" "" "" "" "DDB1(NM_001923.5):c.3374C>T (p.T1125I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026036" "0" "50" "11" "61067639" "61067639" "subst" "8.13809E-6" "02325" "DAK_000015" "g.61067639T>C" "" "" "" "DDB1(NM_001923.5):c.3392A>G (p.K1131R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038535" "0" "50" "11" "61067666" "61067666" "subst" "4.08908E-6" "01804" "DAK_000016" "g.61067666C>T" "" "" "" "DDB1(NM_001923.5):c.3365G>A (p.(Arg1122Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038536" "0" "30" "11" "61070049" "61070049" "subst" "0.000605494" "01804" "DAK_000017" "g.61070049C>A" "" "" "" "DDB1(NM_001923.5):c.3112+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038537" "0" "30" "11" "61070945" "61070945" "subst" "0" "01804" "DAK_000018" "g.61070945G>C" "" "" "" "DDB1(NM_001923.5):c.2833-318C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038538" "0" "30" "11" "61081819" "61081819" "subst" "0.000211516" "01804" "DAK_000019" "g.61081819T>C" "" "" "" "DDB1(NM_001923.5):c.1550A>G (p.(Tyr517Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038539" "0" "50" "11" "61089859" "61089859" "subst" "0" "01804" "DAK_000020" "g.61089859C>A" "" "" "" "DDB1(NM_001923.5):c.1031G>T (p.(Gly344Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038540" "0" "50" "11" "61093166" "61093166" "subst" "0" "01804" "DAK_000021" "g.61093166C>T" "" "" "" "DDB1(NM_001923.5):c.679G>A (p.(Gly227Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053896" "0" "30" "11" "61064377" "61064377" "subst" "0" "01804" "DAK_000022" "g.61064377G>A" "" "" "" "DDB1(NM_001923.5):c.*3231C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053897" "0" "30" "11" "61071510" "61071510" "subst" "8.14279E-6" "01804" "DAK_000023" "g.61071510G>T" "" "" "" "DDB1(NM_001923.5):c.2662-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053898" "0" "50" "11" "61090560" "61090560" "subst" "1.629E-5" "01804" "DAK_000024" "g.61090560T>C" "" "" "" "DDB1(NM_001923.5):c.928A>G (p.(Ile310Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053899" "0" "50" "11" "61099042" "61099042" "subst" "0" "01804" "CYBASC3_000012" "g.61099042A>C" "" "" "" "DDB1(NM_001923.5):c.183T>G (p.(Ile61Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053900" "0" "50" "11" "61109960" "61109960" "subst" "0.000722872" "01804" "CYBASC3_000013" "g.61109960G>A" "" "" "" "TKFC(NM_015533.4):c.683G>A (p.(Arg228Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053901" "0" "50" "11" "61110043" "61110043" "subst" "0" "01804" "CYBASC3_000014" "g.61110043C>G" "" "" "" "TKFC(NM_015533.4):c.691-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053902" "0" "30" "11" "61110810" "61110810" "subst" "4.06438E-6" "01804" "CYBASC3_000015" "g.61110810G>A" "" "" "" "TKFC(NM_015533.4):c.866-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065476" "0" "50" "11" "61068316" "61068316" "subst" "4.06072E-6" "02325" "DAK_000025" "g.61068316G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065477" "0" "30" "11" "61076494" "61076494" "subst" "8.52813E-5" "02325" "DAK_000026" "g.61076494C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065478" "0" "50" "11" "61120344" "61120344" "subst" "0" "01804" "CYBASC3_000016" "g.61120344C>T" "" "" "" "TKFC(NM_001351978.2):c.1588C>T (p.(Pro530Ser))" "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 DDB1 ## Count = 50 "{{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}}" "0000322256" "00006193" "70" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Glu215Lys)" "" "0000439088" "00006193" "50" "762" "92" "762" "92" "c.762+92C>A" "r.(=)" "p.(=)" "" "0000439089" "00006193" "50" "153" "0" "153" "0" "c.153C>T" "r.(=)" "p.(=)" "" "0000439090" "00006193" "50" "61" "72" "61" "72" "c.61+72C>G" "r.(=)" "p.(=)" "" "0000691098" "00006193" "30" "843" "0" "843" "0" "c.843C>T" "r.(?)" "p.(Phe281=)" "" "0000760962" "00006193" "90" "551" "0" "559" "0" "c.551_559del" "r.(?)" "p.(Asp184_Gln186del)" "" "0000760963" "00006193" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Trp)" "" "0000760964" "00006193" "90" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188Gln)" "" "0000760965" "00006193" "90" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Glu213Lys)" "" "0000760966" "00006193" "90" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Glu213Lys)" "" "0000760967" "00006193" "90" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Glu213Lys)" "" "0000760968" "00006193" "90" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Glu213Lys)" "" "0000760969" "00006193" "90" "1285" "0" "1285" "0" "c.1285T>G" "r.(?)" "p.(Phe429Val)" "" "0000842215" "00006193" "50" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000889995" "00006193" "50" "716" "0" "716" "0" "c.716A>G" "r.(?)" "p.(Tyr239Cys)" "" "0000949720" "00006193" "50" "1587" "0" "1587" "0" "c.1587C>G" "r.(?)" "p.(Ile529Met)" "" "0000952280" "00006193" "90" "2566" "4" "2566" "4" "c.2566+4A>G" "r.spl?" "p.?" "" "0000979670" "00006193" "30" "3216" "-8" "3216" "-8" "c.3216-8C>T" "r.(=)" "p.(=)" "" "0000979671" "00006193" "30" "2943" "-10" "2943" "-10" "c.2943-10C>T" "r.(=)" "p.(=)" "" "0000979672" "00006193" "50" "1836" "0" "1836" "0" "c.1836C>A" "r.(?)" "p.(Phe612Leu)" "" "0000979673" "00006193" "50" "763" "-4" "763" "-4" "c.763-4G>T" "r.spl?" "p.?" "" "0000979674" "00006193" "50" "763" "-5" "763" "-5" "c.763-5G>T" "r.spl?" "p.?" "" "0000979675" "00006193" "30" "-6325" "0" "-6325" "0" "c.-6325C>T" "r.(?)" "p.(=)" "" "0000979676" "00006193" "50" "-6436" "0" "-6436" "0" "c.-6436C>G" "r.(?)" "p.(=)" "" "0000979677" "00006193" "30" "-10879" "0" "-10879" "0" "c.-10879A>G" "r.(?)" "p.(=)" "" "0000979678" "00006193" "30" "-11293" "0" "-11293" "0" "c.-11293G>A" "r.(?)" "p.(=)" "" "0000979679" "00006193" "50" "-20104" "0" "-20104" "0" "c.-20104C>A" "r.(?)" "p.(=)" "" "0000999180" "00006193" "50" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Ser872Phe)" "" "0000999181" "00006193" "50" "1991" "0" "1991" "0" "c.1991A>G" "r.(?)" "p.(His664Arg)" "" "0000999182" "00006193" "50" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Pro176Ser)" "" "0000999183" "00006193" "70" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.(Arg114Cys)" "" "0000999184" "00006193" "50" "-9517" "0" "-9517" "0" "c.-9517C>T" "r.(?)" "p.(=)" "" "0001014846" "00006193" "50" "3374" "0" "3374" "0" "c.3374C>T" "r.(?)" "p.(Thr1125Ile)" "" "0001026036" "00006193" "50" "3392" "0" "3392" "0" "c.3392A>G" "r.(?)" "p.(Lys1131Arg)" "" "0001038535" "00006193" "50" "3365" "0" "3365" "0" "c.3365G>A" "r.(?)" "p.(Arg1122Gln)" "" "0001038536" "00006193" "30" "3112" "5" "3112" "5" "c.3112+5G>T" "r.spl?" "p.?" "" "0001038537" "00006193" "30" "2833" "-318" "2833" "-318" "c.2833-318C>G" "r.(=)" "p.(=)" "" "0001038538" "00006193" "30" "1550" "0" "1550" "0" "c.1550A>G" "r.(?)" "p.(Tyr517Cys)" "" "0001038539" "00006193" "50" "1031" "0" "1031" "0" "c.1031G>T" "r.(?)" "p.(Gly344Val)" "" "0001038540" "00006193" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Arg)" "" "0001053896" "00006193" "30" "6654" "0" "6654" "0" "c.*3231C>T" "r.(=)" "p.(=)" "" "0001053897" "00006193" "30" "2662" "-3" "2662" "-3" "c.2662-3C>A" "r.spl?" "p.?" "" "0001053898" "00006193" "50" "928" "0" "928" "0" "c.928A>G" "r.(?)" "p.(Ile310Val)" "" "0001053899" "00006193" "50" "183" "0" "183" "0" "c.183T>G" "r.(?)" "p.(Ile61Met)" "" "0001053900" "00006193" "50" "-9520" "0" "-9520" "0" "c.-9520C>T" "r.(?)" "p.(=)" "" "0001053901" "00006193" "50" "-9603" "0" "-9603" "0" "c.-9603G>C" "r.(?)" "p.(=)" "" "0001053902" "00006193" "30" "-10370" "0" "-10370" "0" "c.-10370C>T" "r.(?)" "p.(=)" "" "0001065476" "00006193" "50" "3304" "0" "3304" "0" "c.3304C>T" "r.(?)" "p.(Arg1102Cys)" "" "0001065477" "00006193" "30" "2622" "0" "2622" "0" "c.2622G>A" "r.(?)" "p.(=)" "" "0001065478" "00006193" "50" "-19904" "0" "-19904" "0" "c.-19904G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000209010" "0000439088" "0000209010" "0000439089" "0000209010" "0000439090" "0000360850" "0000760962" "0000360851" "0000760963" "0000360852" "0000760964" "0000360853" "0000760965" "0000360854" "0000760966" "0000360855" "0000760967" "0000360856" "0000760968" "0000360857" "0000760969" "0000445362" "0000952280"