### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DDB2) # 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}}" "DDB2" "damage-specific DNA binding protein 2, 48kDa" "11" "p12-p11" "unknown" "NC_000011.9" "UD_132085383567" "" "https://www.LOVD.nl/DDB2" "" "1" "2718" "1643" "600811" "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/DDB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-30 13:20:00" "00000" "2024-10-29 21:08:56" ## 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}}" "00006194" "DDB2" "damage-specific DNA binding protein 2, 48kDa" "001" "NM_000107.2" "" "NP_000098.1" "" "" "" "-195" "1653" "1284" "47236493" "47260769" "" "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}}" "02136" "XPE" "xeroderma pigmentosum, complementation group E (XPE)" "AR" "278740" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05596" "XP" "xeroderma pigmentosum (XP)" "" "" "" "" "" "00006" "2019-04-20 16:55:51" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DDB2" "02136" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00436164" "" "" "" "2" "" "00006" "{PMID:de Souza Timoteo 2023:37573316}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Brazil" "" "0" "" "" "" "FamPat2" "00436165" "" "" "00436164" "1" "" "00006" "{PMID:de Souza Timoteo 2023:37573316}" "sister" "F" "yes" "Brazil" "" "0" "" "" "" "FamPatII4" "00436166" "" "" "" "1" "" "00006" "{PMID:Nichols 1996:8798680}" "" "" "" "Netherlands" "" "0" "" "" "" "XP2RO" "00436167" "" "" "" "1" "" "00006" "{PMID:Nichols 1996:8798680}" "" "" "" "Japan" "" "0" "" "" "" "XP82TO" "00436168" "" "" "" "1" "" "00006" "{PMID:Itoh 1999:10469312}" "" "F" "" "Japan" "" "0" "" "" "" "Ops1" "00436172" "" "" "" "1" "" "00006" "{PMID:Rapic-Otrin 2003:12812979}" "2-generation family, 1 affected, unaffected heterozygous parents" "" "" "Italy" "" "0" "" "" "" "XP23PV" "00436173" "" "" "" "1" "" "00006" "{PMID:Rapic-Otrin 2003:12812979}" "2-generation family, 1 affected, unaffected heterozygous parents" "" "" "Italy" "" "0" "" "" "" "XP27PV" "00436174" "" "" "" "1" "" "00006" "{PMID:Rapic-Otrin 2003:12812979}" "2-generation family, 1 affected, unaffected heterozygous parents" "" "" "Italy" "" "0" "" "" "" "XP25PV" "00436175" "" "" "" "1" "" "00006" "{PMID:Nichols 2000:10777490}, {PMID:Rapic-Otrin 2003:12812979}" "" "" "" "United States" "" "0" "" "" "" "GM01389" "00436176" "" "" "" "1" "" "00006" "{PMID:Ben Rekaya 2018:29169765}" "5-generation family, 5 affected (3F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Tunisia" "" "0" "" "" "" "XP51/73MAH-1" "00436180" "" "" "" "1" "" "00006" "{PMID:Vahteristo 2007:17660462}" "" "M" "" "Finland" "" "0" "" "" "" "patient" "00436181" "" "" "" "1" "" "00006" "{PMID:Oh 2011:21107348}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "" "Germany" "" "0" "" "" "" "XP1GO" "00436182" "" "" "" "2" "" "00006" "{PMID:Oh 2011:21107348}" "2-generation family, affected sister/brother, unaffected heterozygous parents/relatives" "F" "" "Netherlands;United States" "" "0" "" "" "" "FamBPatXP37BE" "00436183" "" "" "00436182" "1" "" "00006" "{PMID:Oh 2011:21107348}" "brother" "M" "" "United States" "" "0" "" "" "" "FamBPatXP66BE" "00436184" "" "" "" "1" "" "00006" "{PMID:Oh 2011:21107348}" "" "F" "" "United States" "" "0" "" "" "white" "XP408BE/GM01389" "00436185" "" "" "" "1" "" "00006" "{PMID:Yang 2020:32228487}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "China" "" "0" "" "" "" "patient" "00436252" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "XP115BR" "00436253" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP105BR" "00436254" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP98BR" "00436255" "" "" "" "1" "" "00006" "{PMID:Fassihi 2016:26884178}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "XP100BR" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00436164" "02136" "00436165" "02136" "00436166" "02136" "00436167" "02136" "00436168" "02136" "00436172" "02136" "00436173" "02136" "00436174" "02136" "00436175" "02136" "00436176" "02136" "00436180" "02136" "00436181" "02136" "00436182" "02136" "00436183" "02136" "00436184" "02136" "00436185" "02136" "00436252" "05596" "00436253" "05596" "00436254" "05596" "00436255" "05596" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02136, 05596 ## Count = 18 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000326345" "02136" "00436164" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., early-onset skin cancer" "" "" "" "" "" "" "" "XPE" "skin cancer" "0000326346" "02136" "00436165" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., early-onset skin cancer" "" "" "" "" "" "" "" "XPE" "skin cancer" "0000326347" "02136" "00436168" "00006" "Familial, autosomal recessive" "62y" "see paper; ..., photosensitivity, including pigmented or depigmented macules and patches, and multiple skin neoplasias (malignant melanomas, basal cell carcinomas, and squamous cell carcinomas in situ) in sun-exposed areas" "" "" "" "" "" "" "" "XPE" "photosensitivity" "0000326352" "02136" "00436172" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000326353" "02136" "00436174" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "XPE" "" "0000326354" "02136" "00436173" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "XPE" "" "0000326355" "02136" "00436175" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "XPE" "" "0000326356" "02136" "00436176" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "XPE" "" "0000326360" "02136" "00436180" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., nasal spinocellular carcinoma, facial spinocellular carcinoma" "" "" "" "" "" "" "" "XPE" "nasal spinocellular carcinoma" "0000326361" "02136" "00436181" "00006" "Familial, autosomal recessive" "45y" "see paper; ..., <30y-more then 400 basal cell carcinomas/squamous cell carcinomas, 6 melanomas" "" "" "" "" "" "" "" "XPE" "" "0000326362" "02136" "00436182" "00006" "Familial, autosomal recessive" "45y" "see paper; ..., >300 basal cell carcinomas/squamous cell carcinomas, no melanomas" "" "" "" "" "" "" "" "XPE" "" "0000326363" "02136" "00436183" "00006" "Familial, autosomal recessive" "43y" "see paper; ..., <40y-six melanomas" "" "" "" "" "" "" "" "XPE" "melanoma" "0000326364" "02136" "00436184" "00006" "Familial, autosomal recessive" "53y" "see paper; ..., no sunburns, tanned easily, no significant photophobia; 14y-multiple skin cancers (basal cell carcinomas and squamous cell carcinomas) on face; no XP neurological abnormalities; before 5oy->600 basal cell carcinomas and squamous cell carcinomas and 12 melanomas" "" "" "" "" "" "" "" "XPE" "" "0000326365" "02136" "00436185" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., freckle-like hyperpigmented macules in sun-exposed areas; recurrent ulceration, bleeding, crusted nodules on her nose" "" "" "" "" "" "" "" "" "freckle-like hyperpigmented macules in sun-exposed areas" "0000326432" "05596" "00436252" "00006" "Familial, autosomal recessive" "30y" "sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 63" "" "29y" "" "" "" "" "" "XPE" "xeroderma pigmentosa" "0000326433" "05596" "00436253" "00006" "Familial, autosomal recessive" "49y" "sunburn severity score 1; 15y-first cancer, malignant melanoma; 35 malignant melanomas; >120 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 75" "" "46y" "" "" "" "" "" "XPE" "xeroderma pigmentosa" "0000326434" "05596" "00436254" "00006" "Familial, autosomal recessive" "62y" "sunburn severity score 1; 15y-first cancer, basal cell carcinoma; 2 malignant melanomas; >200 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 68" "" "48y" "" "" "" "" "" "XPE" "xeroderma pigmentosa" "0000326435" "05596" "00436255" "00006" "Familial, autosomal recessive" "62y" "sunburn severity score 0; 9y-first cancer, basal cell carcinoma; no malignant melanoma; >100 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 53" "" "59y" "" "" "" "" "" "XPE" "xeroderma pigmentosa" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000437647" "00436164" "1" "00006" "00006" "2023-08-30 13:27:18" "" "" "SEQ-NG" "DNA" "" "" "0000437648" "00436165" "1" "00006" "00006" "2023-08-30 13:30:29" "" "" "SEQ-NG" "DNA" "" "" "0000437649" "00436166" "1" "00006" "00006" "2023-08-30 13:38:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000437650" "00436167" "1" "00006" "00006" "2023-08-30 13:38:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000437651" "00436168" "1" "00006" "00006" "2023-08-30 13:59:31" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000437655" "00436172" "1" "00006" "00006" "2023-08-30 17:07:15" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000437656" "00436173" "1" "00006" "00006" "2023-08-30 17:19:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000437657" "00436174" "1" "00006" "00006" "2023-08-30 17:29:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000437658" "00436175" "1" "00006" "00006" "2023-08-30 17:36:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000437659" "00436176" "1" "00006" "00006" "2023-08-30 17:52:58" "" "" "SEQ-NG" "DNA" "" "WES" "0000437663" "00436180" "1" "00006" "00006" "2023-08-30 21:47:46" "" "" "SEQ-NG" "DNA" "" "" "0000437664" "00436181" "1" "00006" "00006" "2023-08-30 21:57:14" "" "" "ARMS" "DNA" "" "" "0000437665" "00436182" "1" "00006" "00006" "2023-08-30 22:01:59" "" "" "SEQ" "DNA" "" "" "0000437666" "00436183" "1" "00006" "00006" "2023-08-30 22:08:45" "" "" "SEQ" "DNA" "" "" "0000437667" "00436184" "1" "00006" "00006" "2023-08-30 22:14:42" "" "" "SEQ" "DNA" "" "" "0000437668" "00436185" "1" "00006" "00006" "2023-08-30 22:25:33" "" "" "SEQ" "DNA" "" "gene panel" "0000437735" "00436252" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437736" "00436253" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437737" "00436254" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" "0000437738" "00436255" "1" "00006" "00006" "2023-08-31 14:14:49" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000437649" "DDB1" "0000437649" "DDB2" "0000437651" "DDB1" "0000437651" "DDB2" "0000437655" "DDB2" "0000437656" "DDB2" "0000437657" "DDB2" "0000437658" "DDB2" "0000437664" "DDB2" "0000437665" "DDB2" "0000437666" "DDB2" "0000437667" "DDB2" "0000437668" "DDB2" "0000437735" "DDB2" "0000437736" "DDB2" "0000437737" "DDB2" "0000437738" "DDB2" ## 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 = 37 "{{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}}" "0000267289" "0" "10" "11" "47238522" "47238522" "subst" "0.999021" "02325" "DDB2_000002" "g.47238522T>C" "" "" "" "DDB2(NM_000107.3):c.378T>C (p.T126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47216971=" "" "benign" "" "0000268659" "0" "10" "11" "47236819" "47236819" "subst" "0.00173147" "02329" "DDB2_000001" "g.47236819T>G" "" "" "" "DDB2(NM_000107.2):c.127+5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47215268T>G" "" "benign" "" "0000268660" "0" "10" "11" "47256343" "47256343" "subst" "0.002924" "02329" "DDB2_000003" "g.47256343G>A" "" "" "" "DDB2(NM_000107.2):c.738G>A (p.T246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47234792G>A" "" "benign" "" "0000274890" "0" "50" "11" "47256462" "47256462" "subst" "2.43928E-5" "01943" "DDB2_000004" "g.47256462C>T" "" "" "" "DDB2(NM_000107.2):c.857C>T (p.P286L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47234911C>T" "" "VUS" "" "0000544037" "0" "30" "11" "47236819" "47236819" "subst" "0.00173147" "01943" "DDB2_000001" "g.47236819T>G" "" "" "" "DDB2(NM_000107.2):c.127+5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47215268T>G" "" "likely benign" "" "0000544039" "0" "50" "11" "47256961" "47256961" "subst" "0" "01943" "DDB2_000018" "g.47256961A>G" "" "" "" "DDB2(NM_000107.2):c.1021A>G (p.K341E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47235410A>G" "" "VUS" "" "0000656797" "0" "90" "11" "47256335" "47256338" "del" "0" "01943" "DDB2_000017" "g.47256335_47256338del" "" "" "" "DDB2(NM_000107.2):c.730_733delAAAG (p.K244*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47234784_47234787del" "" "pathogenic" "" "0000805139" "0" "30" "11" "47259728" "47259728" "subst" "0.00258093" "01943" "DDB2_000019" "g.47259728G>A" "" "" "" "DDB2(NM_000107.2):c.1228G>A (p.A410T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889844" "0" "10" "11" "47256343" "47256343" "subst" "0.002924" "02326" "DDB2_000003" "g.47256343G>A" "" "" "" "DDB2(NM_000107.2):c.738G>A (p.T246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000932991" "3" "90" "11" "47259391" "47259391" "subst" "0" "00006" "DDB2_000005" "g.47259391G>C" "" "{PMID:de Souza Timoteo 2023:37573316}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47237840G>C" "" "pathogenic (recessive)" "" "0000932992" "3" "90" "11" "47259391" "47259391" "subst" "0" "00006" "DDB2_000005" "g.47259391G>C" "" "{PMID:de Souza Timoteo 2023:37573316}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47237840G>C" "" "pathogenic (recessive)" "" "0000932993" "3" "90" "11" "47256423" "47256423" "subst" "2.0308E-5" "00006" "DDB2_000006" "g.47256423G>A" "" "{PMID:Nichols 1996:8798680}" "" "818G>A" "" "Germline" "" "" "0" "" "" "g.47234872G>A" "" "pathogenic (recessive)" "" "0000932994" "3" "90" "11" "47256335" "47256335" "subst" "0" "00006" "DDB2_000007" "g.47256335A>G" "" "{PMID:Nichols 1996:8798680}" "" "730A>G" "" "Germline" "" "" "0" "" "" "g.47234784A>G" "" "pathogenic (recessive)" "" "0000932995" "3" "90" "11" "47256877" "47256877" "subst" "0" "00006" "DDB2_000008" "g.47256877C>T" "" "{PMID:Itoh 1999:10469312}" "" "" "" "Germline" "" "" "0" "" "" "g.47235326C>T" "" "pathogenic (recessive)" "" "0000933000" "3" "90" "11" "47256964" "47256964" "subst" "4.11022E-6" "00006" "DDB2_000009" "g.47256964G>T" "" "{PMID:Rapic-Otrin 2003:12812979}" "" "IVS7+1G>T" "" "Germline" "" "" "0" "" "" "g.47235413G>T" "" "pathogenic (recessive)" "" "0000933001" "3" "90" "11" "47256335" "47256338" "del" "0" "00006" "DDB2_000017" "g.47256335_47256338del" "" "{PMID:Rapic-Otrin 2003:12812979}" "" "905–908delAAAG" "" "Germline" "" "" "0" "" "" "g.47234784_47234787del" "" "pathogenic (recessive)" "" "0000933002" "3" "90" "11" "47256858" "47256859" "delins" "0" "00006" "DDB2_000010" "g.47256858_47256859delinsAT" "" "{PMID:Rapic-Otrin 2003:12812979}" "" "1093G>A;1094G>T" "" "Germline" "" "" "0" "" "" "g.47235307_47235308delinsAT" "" "pathogenic (recessive)" "" "0000933003" "1" "90" "11" "47259413" "47259413" "subst" "0" "00006" "DDB2_000011" "g.47259413T>C" "" "{PMID:Nichols 2000:10777490}, {PMID:Rapic-Otrin 2003:12812979}" "" "T1224C" "" "Germline" "" "" "0" "" "" "g.47237862T>C" "" "pathogenic (recessive)" "" "0000933004" "2" "90" "11" "47259409" "47259411" "del" "0" "00006" "DDB2_000012" "g.47259409_47259411del" "" "{PMID:Nichols 2000:10777490}, {PMID:Rapic-Otrin 2003:12812979}" "" "1220–1222delAAC" "" "Germline" "" "" "0" "" "" "g.47237858_47237860del" "" "pathogenic (recessive)" "" "0000933005" "3" "90" "11" "47259504" "47259504" "del" "0" "00006" "DDB2_000013" "g.47259504del" "" "{PMID:Ben Rekaya 2018:29169765}" "" "1138delG" "" "Germline" "yes" "" "0" "" "" "g.47237953del" "" "pathogenic (recessive)" "" "0000933010" "3" "90" "11" "47254482" "47254482" "subst" "6.09083E-5" "00006" "DDB2_000014" "g.47254482C>T" "" "{PMID:Vahteristo 2007:17660462}" "" "" "" "Germline" "" "" "0" "" "" "g.47232931C>T" "" "pathogenic (recessive)" "" "0000933011" "3" "90" "11" "47256854" "47256854" "subst" "0" "00006" "DDB2_000015" "g.47256854C>A" "" "{PMID:Oh 2011:21107348}" "" "" "" "Germline" "" "" "0" "" "" "g.47235303C>A" "" "pathogenic (recessive)" "" "0000933012" "3" "90" "11" "47256423" "47256423" "subst" "2.0308E-5" "00006" "DDB2_000006" "g.47256423G>A" "" "{PMID:Oh 2011:21107348}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47234872G>A" "" "pathogenic (recessive)" "" "0000933013" "3" "90" "11" "47256423" "47256423" "subst" "2.0308E-5" "00006" "DDB2_000006" "g.47256423G>A" "" "{PMID:Oh 2011:21107348}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47234872G>A" "" "pathogenic (recessive)" "" "0000933014" "1" "90" "11" "47259413" "47259413" "subst" "0" "00006" "DDB2_000011" "g.47259413T>C" "" "{PMID:Oh 2011:21107348}" "" "" "" "Germline" "" "" "0" "" "" "g.47237862T>C" "" "pathogenic (recessive)" "" "0000933015" "2" "90" "11" "47259409" "47259411" "del" "0" "00006" "DDB2_000012" "g.47259409_47259411del" "" "{PMID:Oh 2011:21107348}" "" "1045_1047delAAC" "" "Germline" "" "" "0" "" "" "g.47237858_47237860del" "" "pathogenic (recessive)" "" "0000933016" "3" "90" "11" "47236798" "47236799" "del" "0" "00006" "DDB2_000016" "g.47236798_47236799del" "" "{PMID:Yang 2020:32228487}" "" "" "" "Germline" "" "" "0" "" "" "g.47215247_47215248del" "" "pathogenic (recessive)" "" "0000933087" "3" "90" "11" "47259513" "47259513" "del" "0" "00006" "DDB2_000024" "g.47259513del" "" "{PMID:Fassihi 2016:26884178}" "" "1149delG" "" "Germline" "" "" "0" "" "" "g.47237962del" "" "pathogenic (recessive)" "" "0000933088" "1" "90" "11" "47259434" "47259434" "subst" "8.1211E-6" "00006" "DDB2_000023" "g.47259434C>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.47237883C>T" "" "pathogenic (recessive)" "" "0000933089" "3" "90" "11" "47237920" "47237920" "subst" "0" "00006" "DDB2_000020" "g.47237920G>A" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.47216369G>A" "" "pathogenic (recessive)" "" "0000933090" "3" "90" "11" "47254363" "47254363" "subst" "0" "00006" "DDB2_000021" "g.47254363A>C" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.47232812A>C" "" "pathogenic (recessive)" "" "0000933134" "2" "90" "11" "47256321" "47256321" "subst" "0" "00006" "DDB2_000022" "g.47256321G>T" "" "{PMID:Fassihi 2016:26884178}" "" "" "" "Germline" "" "" "0" "" "" "g.47234770G>T" "" "pathogenic (recessive)" "" "0000966377" "0" "30" "11" "47259728" "47259728" "subst" "0.00258093" "02326" "DDB2_000019" "g.47259728G>A" "" "" "" "DDB2(NM_000107.2):c.1228G>A (p.A410T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979595" "0" "50" "11" "47238425" "47238425" "subst" "4.06352E-5" "01804" "DDB2_000025" "g.47238425T>G" "" "" "" "DDB2(NM_000107.3):c.281T>G (p.(Phe94Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979596" "0" "90" "11" "47256423" "47256423" "subst" "2.0308E-5" "01804" "DDB2_000006" "g.47256423G>A" "" "" "" "DDB2(NM_000107.3):c.818G>A (p.(Arg273His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979597" "0" "30" "11" "47259728" "47259728" "subst" "0.00258093" "02329" "DDB2_000019" "g.47259728G>A" "" "" "" "DDB2(NM_000107.2):c.1228G>A (p.A410T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014796" "0" "30" "11" "47254530" "47254530" "subst" "0.000645717" "02329" "DDB2_000026" "g.47254530G>A" "" "" "" "DDB2(NM_000107.2):c.602+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 DDB2 ## Count = 37 "{{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}}" "0000267289" "00006194" "10" "378" "0" "378" "0" "c.378=" "r.(=)" "p.(Thr126=)" "" "0000268659" "00006194" "10" "127" "5" "127" "5" "c.127+5T>G" "r.spl?" "p.?" "" "0000268660" "00006194" "10" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Thr246=)" "" "0000274890" "00006194" "50" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.(Pro286Leu)" "" "0000544037" "00006194" "30" "127" "5" "127" "5" "c.127+5T>G" "r.spl?" "p.?" "" "0000544039" "00006194" "50" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Lys341Glu)" "" "0000656797" "00006194" "90" "730" "0" "733" "0" "c.730_733del" "r.(?)" "p.(Lys244Ter)" "" "0000805139" "00006194" "30" "1228" "0" "1228" "0" "c.1228G>A" "r.(?)" "p.(Ala410Thr)" "" "0000889844" "00006194" "10" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Thr246=)" "" "0000932991" "00006194" "90" "1027" "0" "1027" "0" "c.1027G>C" "r.(?)" "p.(Ala343Pro)" "" "0000932992" "00006194" "90" "1027" "0" "1027" "0" "c.1027G>C" "r.(?)" "p.(Ala343Pro)" "" "0000932993" "00006194" "90" "818" "0" "818" "0" "c.818G>A" "r.818g>a" "p.Arg273His" "" "0000932994" "00006194" "90" "730" "0" "730" "0" "c.730A>G" "r.730a>g" "p.Lys244Glu" "" "0000932995" "00006194" "90" "937" "0" "937" "0" "c.937C>T" "r.937c>u" "p.Arg313*" "" "0000933000" "00006194" "90" "1023" "1" "1023" "1" "c.1023+1G>T" "r.703_1023del" "p.Leu235_Lys341del" "7i" "0000933001" "00006194" "90" "730" "0" "733" "0" "c.730_733del" "r.[730_733del,703_880del,703_1023del]" "p.[Lys244*,Trp236fs,Leu235_Lys341del]" "6" "0000933002" "00006194" "90" "918" "0" "919" "0" "c.918_919delinsAT" "r.918_919delinsau" "p.Asp307Tyr" "7" "0000933003" "00006194" "90" "1049" "0" "1049" "0" "c.1049T>C" "r.(?)" "p.(Leu350Pro)" "" "0000933004" "00006194" "90" "1045" "0" "1047" "0" "c.1045_1047del" "r.1045_1047del" "p.Asn349del" "" "0000933005" "00006194" "90" "1140" "0" "1140" "0" "c.1140del" "r.(?)" "p.(Lys381Argfs*2)" "" "0000933010" "00006194" "90" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192*)" "" "0000933011" "00006194" "90" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Thr305Asn)" "" "0000933012" "00006194" "90" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273His)" "" "0000933013" "00006194" "90" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273His)" "" "0000933014" "00006194" "90" "1049" "0" "1049" "0" "c.1049T>C" "r.(?)" "p.(Leu350Pro)" "" "0000933015" "00006194" "90" "1045" "0" "1047" "0" "c.1045_1047del" "r.(?)" "p.(Asn349del)" "" "0000933016" "00006194" "90" "111" "0" "112" "0" "c.111_112del" "r.(?)" "p.(Ala39Glufs*6)" "1" "0000933087" "00006194" "90" "1149" "0" "1149" "0" "c.1149del" "r.(?)" "p.(Met383Ilefs*49)" "" "0000933088" "00006194" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Pro357Leu)" "" "0000933089" "00006194" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Trp54*)" "" "0000933090" "00006194" "90" "457" "-2" "457" "-2" "c.457-2A>C" "r.spl" "p.?" "" "0000933134" "00006194" "90" "716" "0" "716" "0" "c.716G>T" "r.(?)" "p.(Arg239Ile)" "" "0000966377" "00006194" "30" "1228" "0" "1228" "0" "c.1228G>A" "r.(?)" "p.(Ala410Thr)" "" "0000979595" "00006194" "50" "281" "0" "281" "0" "c.281T>G" "r.(?)" "p.(Phe94Cys)" "" "0000979596" "00006194" "90" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273His)" "" "0000979597" "00006194" "30" "1228" "0" "1228" "0" "c.1228G>A" "r.(?)" "p.(Ala410Thr)" "" "0001014796" "00006194" "30" "602" "20" "602" "20" "c.602+20G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000437647" "0000932991" "0000437648" "0000932992" "0000437649" "0000932993" "0000437650" "0000932994" "0000437651" "0000932995" "0000437655" "0000933000" "0000437656" "0000933001" "0000437657" "0000933002" "0000437658" "0000933003" "0000437658" "0000933004" "0000437659" "0000933005" "0000437663" "0000933010" "0000437664" "0000933011" "0000437665" "0000933012" "0000437666" "0000933013" "0000437667" "0000933014" "0000437667" "0000933015" "0000437668" "0000933016" "0000437735" "0000933087" "0000437736" "0000933088" "0000437736" "0000933134" "0000437737" "0000933089" "0000437738" "0000933090"