### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CEL) # 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}}" "CEL" "carboxyl ester lipase (bile salt-stimulated lipase)" "9" "q34.3" "unknown" "NC_000009.11" "UD_132084450304" "" "https://www.LOVD.nl/CEL" "" "1" "1848" "1056" "114840" "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/CEL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-03-08 12:39:06" "00006" "2025-12-05 13:23:08" ## 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}}" "00025815" "CEL" "carboxyl ester lipase" "002" "NM_001807.4" "" "NP_001798.2" "" "" "" "-16" "2370" "2271" "135937365" "135947250" "00006" "2023-03-08 12:39:53" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01285" "MODY1" "diabetes of the young, maturity-onset, type 1 (MODY-1)" "AD" "125850" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02877" "MODY8" "diabetes of the young, maturity-onset, type 8 (MODY-8)" "AD" "609812" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05593" "MODY" "diabetes of the young, maturity-onset (MODY)" "" "" "" "" "" "00006" "2019-04-18 09:05:58" "" "" "05784" "EDSCL1" "Ehlers-Danlos, classic syndrome, type 1 (EDSCL1 EDS1)" "AD" "130000" "" "" "" "00006" "2020-07-09 19:45:04" "00006" "2021-12-10 21:51:32" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CEL" "02877" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00363865" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "177890" "00419931" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00430291" "" "" "" "1" "" "04419" "{PMID:Kuroda et al., 2018:29520887}" "" "M" "no" "Japan" "" "" "" "" "" "1" "00470681" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected mother" "M" "" "Poland" "" "0" "" "" "" "Pat42" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00363865" "01285" "00419931" "05593" "00430291" "05784" "00470681" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01285, 02877, 05593, 05784, 07210 ## Count = 3 "{{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}}" "0000259204" "01285" "00363865" "01164" "Unknown" "" "Known Shwachman-Diamond syndrome, WH deficiency, now pathol. Glucose tolerance, HbA1c 6.1%" "" "12y" "" "" "" "" "" "" "" "0000321099" "05784" "00430291" "04419" "Unknown" "24y" "mild intellectual disability; Joint hypermobility. Dysmorphic features consisting of palpebral fissures, telecanthus, epicanthus, a long nose, and prominent alae nasi, prominent cheeks, and cup ears." "" "" "" "" "" "" "" "" "" "0000355575" "07210" "00470681" "00006" "Familial" "13y" "see paper; ... scoliosis, pectus excavatum; back pain; cryptorchidism; physical activity" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000365093" "00363865" "1" "01164" "01164" "2021-04-30 13:38:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000421236" "00419931" "1" "01741" "01741" "2022-10-27 12:21:01" "" "" "SEQ-NG" "DNA" "" "" "0000431705" "00430291" "1" "04419" "04419" "2023-01-17 07:09:37" "" "" "arrayCGH" "DNA" "Peripheral blood" "" "0000472348" "00470681" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000365093" "CEL" "0000421236" "CEL" "0000431705" "COL5A1" ## 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 = 285 "{{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}}" "0000273087" "0" "10" "9" "135946015" "135946015" "subst" "0" "01943" "CEL_000001" "g.135946015T>C" "" "" "" "CEL(NM_001807.3):c.1463T>C (p.(Ile488Thr)), CEL(NM_001807.4):c.1463T>C (p.I488T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133070628T>C" "" "benign" "" "0000273088" "0" "10" "9" "135946863" "135946863" "del" "0" "01943" "CEL_000008" "g.135946863del" "" "" "" "CEL(NM_001807.3):c.1983del (p.(Val662CysfsTer45)), CEL(NM_001807.4):c.1983delC (p.V662Cfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071476del" "" "benign" "" "0000273089" "0" "30" "9" "135946953" "135946953" "subst" "0.00462688" "01943" "CEL_000013" "g.135946953C>G" "" "" "" "CEL(NM_001807.3):c.2073C>G (p.(Gly691=)), CEL(NM_001807.4):c.2073C>G (p.G691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071566C>G" "" "likely benign" "" "0000273090" "0" "30" "9" "135946986" "135946986" "subst" "0.000117353" "01943" "CEL_000016" "g.135946986G>C" "" "" "" "CEL(NM_001807.4):c.2106G>C (p.G702=), CEL(NM_001807.6):c.2097G>C (p.(Gly699=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071599G>C" "" "likely benign" "" "0000332861" "0" "10" "9" "135944586" "135944586" "subst" "0.283078" "01804" "CEL_000036" "g.135944586C>T" "" "" "" "CEL(NM_001807.3):c.1235C>T (p.(Thr412Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133069199C>T" "" "benign" "" "0000332862" "0" "30" "9" "135946536" "135946536" "subst" "0.000159014" "01804" "CEL_000002" "g.135946536G>A" "" "" "" "CEL(NM_001807.3):c.1656G>A (p.(Leu552=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071149G>A" "" "likely benign" "" "0000332863" "0" "30" "9" "135946690" "135946690" "subst" "0.00975167" "01804" "CEL_000003" "g.135946690G>C" "" "" "" "CEL(NM_001807.3):c.1810delinsC (p.(Ala604Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071303G>C" "" "likely benign" "" "0000332864" "0" "10" "9" "135946704" "135946704" "subst" "0.000298864" "01804" "CEL_000004" "g.135946704G>A" "" "" "" "CEL(NM_001807.3):c.1824G>A (p.(Pro608=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071317G>A" "" "benign" "" "0000332865" "0" "10" "9" "135946724" "135946724" "subst" "0.000458982" "01804" "CEL_000005" "g.135946724C>G" "" "" "" "CEL(NM_001807.3):c.1844C>G (p.(Ala615Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071337C>G" "" "benign" "" "0000332866" "0" "30" "9" "135946818" "135946818" "subst" "0" "01804" "CEL_000006" "g.135946818C>T" "" "" "" "CEL(NM_001807.3):c.1938C>T (p.(Ser646=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071431C>T" "" "likely benign" "" "0000332867" "0" "30" "9" "135946855" "135946855" "subst" "0.000648088" "01804" "CEL_000007" "g.135946855G>C" "" "" "" "CEL(NM_001807.3):c.1975delinsC (p.(Ala659Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071468G>C" "" "likely benign" "" "0000332868" "0" "30" "9" "135946863" "135946863" "del" "0" "01804" "CEL_000008" "g.135946863del" "" "" "" "CEL(NM_001807.3):c.1983del (p.(Val662CysfsTer45)), CEL(NM_001807.4):c.1983delC (p.V662Cfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071476del" "" "likely benign" "" "0000332869" "0" "30" "9" "135946929" "135946929" "dup" "0" "01804" "CEL_000009" "g.135946929dup" "" "" "" "CEL(NM_001807.3):c.2049dup (p.(Val684Argfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071542dup" "" "likely benign" "" "0000332870" "0" "10" "9" "135946929" "135946929" "del" "0" "01804" "CEL_000010" "g.135946929del" "" "" "" "CEL(NM_001807.3):c.2049del (p.(Val684Cysfs*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071542del" "" "benign" "" "0000332871" "0" "10" "9" "135946953" "135946985" "del" "0" "01804" "CEL_000011" "g.135946953_135946985del" "" "" "" "CEL(NM_001807.3):c.2073_2105del (p.(Pro696_Val706del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071566_133071598del" "" "benign" "" "0000332872" "0" "10" "9" "135946948" "135946948" "subst" "0.000229124" "01804" "CEL_000012" "g.135946948T>G" "" "" "" "CEL(NM_001807.3):c.2068T>G (p.(Ser690Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071561T>G" "" "benign" "" "0000332873" "0" "10" "9" "135946953" "135946953" "subst" "0.00462688" "01804" "CEL_000013" "g.135946953C>G" "" "" "" "CEL(NM_001807.3):c.2073C>G (p.(Gly691=)), CEL(NM_001807.4):c.2073C>G (p.G691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071566C>G" "" "benign" "" "0000332874" "0" "10" "9" "135946954" "135946954" "subst" "0" "01804" "CEL_000014" "g.135946954G>C" "" "" "" "CEL(NM_001807.3):c.2074G>C (p.(Ala692Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071567G>C" "" "benign" "" "0000332875" "0" "50" "9" "135946962" "135946962" "dup" "0" "01804" "CEL_000015" "g.135946962dup" "" "" "" "CEL(NM_001807.3):c.2075dup (p.(Val695Argfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071575dup" "" "VUS" "" "0000332876" "0" "30" "9" "135946995" "135946995" "subst" "0.00964875" "01804" "CEL_000017" "g.135946995C>T" "" "" "" "CEL(NM_001807.3):c.2115delinsT (p.(Pro705=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071608C>T" "" "likely benign" "" "0000332877" "0" "10" "9" "135947018" "135947050" "del" "0" "01804" "CEL_000018" "g.135947018_135947050del" "" "" "" "CEL(NM_001807.3):c.2138_2170del (p.(Glu713_Ser723del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071631_133071663del" "" "benign" "" "0000332878" "0" "30" "9" "135947049" "135947081" "del" "0.00040369" "01804" "CEL_000019" "g.135947049_135947081del" "" "" "" "CEL(NM_001807.3):c.2169_2201del (p.(Gly724_Ser734del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133071662_133071694del" "" "likely benign" "" "0000536818" "0" "10" "9" "135936678" "135936678" "subst" "0" "01804" "GTF3C5_000001" "g.135936678A>G" "" "" "" "LOC100996574(XM_003846374.2):c.42T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133061291A>G" "" "benign" "" "0000536819" "0" "30" "9" "135937396" "135937396" "subst" "0.00246484" "01804" "GTF3C5_000002" "g.135937396C>T" "" "" "" "CEL(NM_001807.3):c.16C>T (p.(Arg6Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133062009C>T" "" "likely benign" "" "0000536820" "0" "10" "9" "135939856" "135939856" "subst" "9.34299E-5" "01804" "GTF3C5_000003" "g.135939856T>C" "" "" "" "CEL(NM_001807.3):c.141T>C (p.(Gly47=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133064469T>C" "" "benign" "" "0000536821" "0" "50" "9" "135940048" "135940048" "subst" "0.000589115" "01943" "GTF3C5_000004" "g.135940048T>C" "" "" "" "CEL(NM_001807.3):c.248T>C (p.(Phe83Ser)), CEL(NM_001807.4):c.248T>C (p.F83S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133064661T>C" "" "VUS" "" "0000536823" "0" "30" "9" "135940439" "135940439" "subst" "0.00435155" "01804" "GTF3C5_000006" "g.135940439T>G" "" "" "" "CEL(NM_001807.3):c.362T>G (p.(Leu121Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133065052T>G" "" "likely benign" "" "0000536824" "0" "30" "9" "135940444" "135940444" "subst" "0.000264669" "01804" "GTF3C5_000007" "g.135940444G>A" "" "" "" "CEL(NM_001807.3):c.367G>A (p.(Val123Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133065057G>A" "" "likely benign" "" "0000536825" "0" "30" "9" "135940488" "135940488" "subst" "0.00466701" "01804" "GTF3C5_000008" "g.135940488C>G" "" "" "" "CEL(NM_001807.3):c.411C>G (p.(Gly137=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133065101C>G" "" "likely benign" "" "0000536826" "0" "10" "9" "135940503" "135940503" "subst" "0.000458954" "01804" "GTF3C5_000009" "g.135940503C>T" "" "" "" "CEL(NM_001807.3):c.426C>T (p.(Phe142=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133065116C>T" "" "benign" "" "0000536828" "0" "30" "9" "135941932" "135941932" "subst" "0.000629795" "01804" "CEL_000020" "g.135941932G>A" "" "" "" "CEL(NM_001807.3):c.563G>A (p.(Arg188Gln)), CEL(NM_001807.6):c.554G>A (p.R185Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133066545G>A" "" "likely benign" "" "0000536830" "0" "30" "9" "135942220" "135942220" "subst" "0.000125678" "01804" "CEL_000022" "g.135942220C>T" "" "" "" "CEL(NM_001807.3):c.679-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133066833C>T" "" "likely benign" "" "0000536833" "0" "30" "9" "135942348" "135942349" "del" "0" "01804" "CEL_000025" "g.135942348_135942349del" "" "" "" "CEL(NM_001807.3):c.786+16_786+17del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133066961_133066962del" "" "likely benign" "" "0000536834" "0" "30" "9" "135942455" "135942455" "subst" "0.00235713" "01804" "CEL_000026" "g.135942455G>T" "" "" "" "CEL(NM_001807.3):c.787-20G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133067068G>T" "" "likely benign" "" "0000536838" "0" "30" "9" "135944128" "135944128" "subst" "0.00217462" "01804" "CEL_000030" "g.135944128A>G" "" "" "" "CEL(NM_001807.3):c.974A>G (p.(Asn325Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133068741A>G" "" "likely benign" "" "0000536839" "0" "30" "9" "135944135" "135944135" "subst" "0.000385694" "01804" "CEL_000031" "g.135944135C>T" "" "" "" "CEL(NM_001807.3):c.981C>T (p.(Tyr327=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133068748C>T" "" "likely benign" "" "0000536841" "0" "50" "9" "135944188" "135944188" "subst" "6.34263E-5" "01943" "CEL_000033" "g.135944188A>G" "" "" "" "CEL(NM_001807.3):c.1034A>G (p.(His345Arg)), CEL(NM_001807.4):c.1034A>G (p.H345R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133068801A>G" "" "VUS" "" "0000536842" "0" "30" "9" "135944188" "135944188" "subst" "6.34263E-5" "01804" "CEL_000033" "g.135944188A>G" "" "" "" "CEL(NM_001807.3):c.1034A>G (p.(His345Arg)), CEL(NM_001807.4):c.1034A>G (p.H345R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133068801A>G" "" "likely benign" "" "0000536843" "0" "30" "9" "135944195" "135944195" "subst" "0" "01804" "CEL_000034" "g.135944195C>T" "" "" "" "CEL(NM_001807.3):c.1041C>T (p.(Phe347=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133068808C>T" "" "likely benign" "" "0000536845" "0" "30" "9" "135944591" "135944591" "subst" "0.000779995" "01804" "CEL_000037" "g.135944591G>A" "" "" "" "CEL(NM_001807.3):c.1240G>A (p.(Val414Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133069204G>A" "" "likely benign" "" "0000536847" "0" "30" "9" "135945988" "135945988" "subst" "0.000139749" "01804" "CEL_000039" "g.135945988A>G" "" "" "" "CEL(NM_001807.3):c.1436A>G (p.(Gln479Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133070601A>G" "" "likely benign" "" "0000536849" "0" "10" "9" "135946366" "135946366" "subst" "0.000721442" "01804" "CEL_000041" "g.135946366C>T" "" "" "" "CEL(NM_001807.3):c.1494-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133070979C>T" "" "benign" "" "0000536850" "0" "30" "9" "135946390" "135946390" "subst" "0.0026641" "01804" "CEL_000042" "g.135946390G>C" "" "" "" "CEL(NM_001807.3):c.1510G>C (p.(Asp504His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071003G>C" "" "likely benign" "" "0000536851" "0" "30" "9" "135946483" "135946483" "subst" "0.000637082" "01804" "CEL_000043" "g.135946483C>T" "" "" "" "CEL(NM_001807.3):c.1603C>T (p.(Arg535Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071096C>T" "" "likely benign" "" "0000536852" "0" "10" "9" "135946508" "135946508" "subst" "0.00116515" "01804" "CEL_000044" "g.135946508G>A" "" "" "" "CEL(NM_001807.3):c.1628G>A (p.(Arg543His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071121G>A" "" "benign" "" "0000536853" "0" "10" "9" "135946548" "135946548" "subst" "0.00175506" "01804" "CEL_000045" "g.135946548C>G" "" "" "" "CEL(NM_001807.3):c.1668C>G (p.(Thr556=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071161C>G" "" "benign" "" "0000536854" "0" "50" "9" "135946578" "135946578" "subst" "0.000156983" "01943" "CEL_000046" "g.135946578A>G" "" "" "" "CEL(NM_001807.3):c.1698A>G (p.(Thr566=)), CEL(NM_001807.4):c.1698A>G (p.T566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071191A>G" "" "VUS" "" "0000536855" "0" "30" "9" "135946578" "135946578" "subst" "0.000156983" "01804" "CEL_000046" "g.135946578A>G" "" "" "" "CEL(NM_001807.3):c.1698A>G (p.(Thr566=)), CEL(NM_001807.4):c.1698A>G (p.T566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071191A>G" "" "likely benign" "" "0000536856" "0" "30" "9" "135946581" "135946581" "subst" "0.000149209" "01943" "CEL_000047" "g.135946581G>T" "" "" "" "CEL(NM_001807.3):c.1701G>T (p.(Gly567=)), CEL(NM_001807.4):c.1701G>T (p.G567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071194G>T" "" "likely benign" "" "0000536857" "0" "30" "9" "135946581" "135946581" "subst" "0.000149209" "01804" "CEL_000047" "g.135946581G>T" "" "" "" "CEL(NM_001807.3):c.1701G>T (p.(Gly567=)), CEL(NM_001807.4):c.1701G>T (p.G567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071194G>T" "" "likely benign" "" "0000536859" "0" "30" "9" "135946591" "135946623" "del" "0" "01804" "CEL_000049" "g.135946591_135946623del" "" "" "" "CEL(NM_001807.3):c.1711_1743del (p.(Ala571_Glu581del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071204_133071236del" "" "likely benign" "" "0000536860" "0" "30" "9" "135946594" "135946594" "subst" "0.000155773" "01804" "CEL_000050" "g.135946594A>G" "" "" "" "CEL(NM_001807.3):c.1714A>G (p.(Thr572Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071207A>G" "" "likely benign" "" "0000536861" "0" "30" "9" "135946596" "135946596" "subst" "0.000203754" "01804" "CEL_000051" "g.135946596T>C" "" "" "" "CEL(NM_001807.3):c.1716T>C (p.(Thr572=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071209T>C" "" "likely benign" "" "0000536862" "0" "30" "9" "135946605" "135946605" "subst" "0.000211668" "01804" "CEL_000052" "g.135946605C>G" "" "" "" "CEL(NM_001807.3):c.1725delinsG (p.(Pro575=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071218C>G" "" "likely benign" "" "0000536864" "0" "10" "9" "135946622" "135946622" "subst" "0.000289538" "01804" "CEL_000054" "g.135946622A>G" "" "" "" "CEL(NM_001807.3):c.1742A>G (p.(Glu581Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071235A>G" "" "benign" "" "0000536865" "0" "30" "9" "135946622" "135946654" "del" "0.00070997" "01804" "CEL_000055" "g.135946622_135946654del" "" "" "" "CEL(NM_001807.3):c.1742_1774del (p.(Glu581_Ser591del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071235_133071267del" "" "likely benign" "" "0000536866" "0" "10" "9" "135946624" "135946624" "subst" "0.000300051" "01804" "CEL_000056" "g.135946624A>G" "" "" "" "CEL(NM_001807.3):c.1744A>G (p.(Thr582Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071237A>G" "" "benign" "" "0000536867" "0" "10" "9" "135946627" "135946627" "subst" "0.000292401" "01804" "CEL_000057" "g.135946627G>C" "" "" "" "CEL(NM_001807.3):c.1747G>C (p.(Ala583Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071240G>C" "" "benign" "" "0000536870" "0" "30" "9" "135946638" "135946638" "subst" "6.00791E-5" "01804" "CEL_000060" "g.135946638G>C" "" "" "" "CEL(NM_001807.3):c.1758G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071251G>C" "" "likely benign" "" "0000536871" "0" "30" "9" "135946665" "135946665" "subst" "0.000153773" "01804" "CEL_000061" "g.135946665C>T" "" "" "" "CEL(NM_001807.3):c.1785C>T (p.(Pro595=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071278C>T" "" "likely benign" "" "0000536872" "0" "30" "9" "135946671" "135946671" "subst" "0.000402732" "01804" "CEL_000062" "g.135946671G>C" "" "" "" "CEL(NM_001807.3):c.1791G>C (p.(Pro597=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071284G>C" "" "likely benign" "" "0000536873" "0" "30" "9" "135946686" "135946686" "subst" "0.000165006" "01804" "CEL_000063" "g.135946686C>T" "" "" "" "CEL(NM_001807.3):c.1806delinsT (p.(Ser602=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071299C>T" "" "likely benign" "" "0000536875" "0" "30" "9" "135946688" "135946688" "subst" "0.000644354" "01804" "CEL_000065" "g.135946688G>A" "" "" "" "CEL(NM_001807.3):c.1808G>A (p.(Gly603Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071301G>A" "" "likely benign" "" "0000536876" "0" "30" "9" "135946692" "135946692" "subst" "0.000101137" "01804" "CEL_000066" "g.135946692C>T" "" "" "" "CEL(NM_001807.3):c.1812C>T (p.(Ala604=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071305C>T" "" "likely benign" "" "0000536877" "0" "30" "9" "135946693" "135946693" "subst" "0.00071066" "01804" "CEL_000067" "g.135946693C>G" "" "" "" "CEL(NM_001807.3):c.1813C>G (p.(Pro605Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071306C>G" "" "likely benign" "" "0000536878" "0" "30" "9" "135946698" "135946698" "subst" "0" "01804" "CEL_000068" "g.135946698C>T" "" "" "" "CEL(NM_001807.3):c.1818C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071311C>T" "" "likely benign" "" "0000536880" "0" "30" "9" "135946702" "135946702" "subst" "0.0003846" "01804" "CEL_000070" "g.135946702C>A" "" "" "" "CEL(NM_001807.3):c.1822C>A (p.(Pro608Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071315C>A" "" "likely benign" "" "0000536881" "0" "30" "9" "135946704" "135946704" "subst" "0.00050577" "01804" "CEL_000071" "g.135946704G>C" "" "" "" "CEL(NM_001807.3):c.1824G>C (p.(Pro608=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071317G>C" "" "likely benign" "" "0000536882" "0" "10" "9" "135946717" "135946717" "subst" "0.00261792" "01804" "CEL_000072" "g.135946717T>G" "" "" "" "CEL(NM_001807.3):c.1837T>G (p.(Ser613Ala)), CEL(NM_001807.4):c.1837T>G (p.S613A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071330T>G" "" "benign" "" "0000536883" "0" "30" "9" "135946721" "135946721" "subst" "0.000232654" "01804" "CEL_000073" "g.135946721G>A" "" "" "" "CEL(NM_001807.3):c.1841G>A (p.(Gly614Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071334G>A" "" "likely benign" "" "0000536884" "0" "10" "9" "135946722" "135946722" "subst" "0.0076704" "01804" "CEL_000074" "g.135946722G>C" "" "" "" "CEL(NM_001807.3):c.1842G>C (p.(Gly614=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071335G>C" "" "benign" "" "0000536886" "0" "30" "9" "135946723" "135946723" "subst" "0.000177954" "01804" "CEL_000076" "g.135946723G>A" "" "" "" "CEL(NM_001807.3):c.1843G>A (p.(Ala615Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071336G>A" "" "likely benign" "" "0000536887" "0" "10" "9" "135946723" "135946723" "subst" "0.00137279" "01804" "CEL_000077" "g.135946723G>C" "" "" "" "CEL(NM_001807.3):c.1843delinsC (p.(Ala615Pro)), CEL(NM_001807.4):c.1843G>C (p.A615P), CEL(NM_001807.6):c.1834G>C (p.A612P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071336G>C" "" "benign" "" "0000536888" "0" "30" "9" "135946726" "135946726" "subst" "0.000251162" "01804" "CEL_000078" "g.135946726C>G" "" "" "" "CEL(NM_001807.3):c.1846C>G (p.(Pro616Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071339C>G" "" "likely benign" "" "0000536889" "0" "30" "9" "135946750" "135946750" "subst" "0" "01804" "CEL_000079" "g.135946750T>G" "" "" "" "CEL(NM_001807.3):c.1870T>G (p.(Ser624Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071363T>G" "" "likely benign" "" "0000536891" "0" "10" "9" "135946828" "135946828" "subst" "0" "01804" "CEL_000081" "g.135946828C>T" "" "" "" "CEL(NM_001807.3):c.1948C>T (p.(Pro650Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071441C>T" "" "benign" "" "0000536892" "0" "30" "9" "135946849" "135946849" "subst" "0" "01804" "CEL_000082" "g.135946849T>G" "" "" "" "CEL(NM_001807.3):c.1969T>G (p.(Ser657Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071462T>G" "" "likely benign" "" "0000536893" "0" "30" "9" "135946854" "135946854" "subst" "0" "01804" "CEL_000083" "g.135946854G>C" "" "" "" "CEL(NM_001807.3):c.1974delinsC (p.(Gly658=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071467G>C" "" "likely benign" "" "0000536894" "0" "30" "9" "135946887" "135946887" "subst" "0" "01804" "CEL_000084" "g.135946887C>T" "" "" "" "CEL(NM_001807.3):c.2007delinsT (p.(Gly669=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071500C>T" "" "likely benign" "" "0000536895" "0" "30" "9" "135946896" "135946896" "dup" "0" "01804" "CEL_000085" "g.135946896dup" "" "" "" "CEL(NM_001807.3):c.2016dup (p.(Val673ArgfsTer6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071509dup" "" "likely benign" "" "0000536896" "0" "30" "9" "135946915" "135946915" "subst" "0.00011325" "01804" "CEL_000086" "g.135946915G>T" "" "" "" "CEL(NM_001807.3):c.2035G>T (p.(Ala679Ser)), CEL(NM_001807.4):c.2035G>T (p.A679S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071528G>T" "" "likely benign" "" "0000536897" "0" "30" "9" "135946915" "135946980" "del" "0" "01804" "CEL_000087" "g.135946915_135946980del" "" "" "" "CEL(NM_001807.3):c.2035_2100del (p.(Ala679_Asp700del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071528_133071593del" "" "likely benign" "" "0000536898" "0" "10" "9" "135946920" "135946920" "subst" "0" "01804" "CEL_000088" "g.135946920G>C" "" "" "" "CEL(NM_001807.3):c.2040G>C (p.(Gly680=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071533G>C" "" "benign" "" "0000536900" "0" "30" "9" "135946921" "135946921" "subst" "0.000163039" "01804" "CEL_000090" "g.135946921C>G" "" "" "" "CEL(NM_001807.3):c.2041delinsG (p.(Pro681Ala)), CEL(NM_001807.4):c.2041C>G (p.P681A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071534C>G" "" "likely benign" "" "0000536901" "0" "30" "9" "135946966" "135946966" "subst" "0" "01804" "CEL_000091" "g.135946966C>A" "" "" "" "CEL(NM_001807.3):c.2086C>A (p.(Pro696Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071579C>A" "" "likely benign" "" "0000536902" "0" "10" "9" "135946968" "135946968" "subst" "0.000963367" "01804" "CEL_000092" "g.135946968G>C" "" "" "" "CEL(NM_001807.3):c.2088G>C (p.(Pro696=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071581G>C" "" "benign" "" "0000536905" "0" "30" "9" "135946986" "135946986" "subst" "0.000117353" "01804" "CEL_000016" "g.135946986G>C" "" "" "" "CEL(NM_001807.4):c.2106G>C (p.G702=), CEL(NM_001807.6):c.2097G>C (p.(Gly699=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071599G>C" "" "likely benign" "" "0000536906" "0" "30" "9" "135946992" "135946992" "subst" "0" "01804" "CEL_000095" "g.135946992C>T" "" "" "" "CEL(NM_001807.3):c.2112C>T (p.(Pro704=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071605C>T" "" "likely benign" "" "0000536907" "0" "30" "9" "135946999" "135946999" "subst" "0.000777368" "01804" "CEL_000096" "g.135946999A>C" "" "" "" "CEL(NM_001807.3):c.2119A>C (p.(Thr707Pro)), CEL(NM_001807.6):c.2110A>C (p.T704P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071612A>C" "" "likely benign" "" "0000536909" "0" "30" "9" "135947001" "135947001" "subst" "0" "01804" "CEL_000098" "g.135947001C>G" "" "" "" "CEL(NM_001807.3):c.2121delinsG (p.(Thr707=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071614C>G" "" "likely benign" "" "0000536910" "0" "10" "9" "135947016" "135947016" "subst" "5.32507E-5" "01804" "CEL_000099" "g.135947016C>T" "" "" "" "CEL(NM_001807.3):c.2136C>T (p.(Ser712=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071629C>T" "" "benign" "" "0000536911" "0" "10" "9" "135947016" "135947081" "del" "0" "01804" "CEL_000100" "g.135947016_135947081del" "" "" "" "CEL(NM_001807.3):c.2136_2201del (p.(Thr714_Glu735del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071629_133071694del" "" "benign" "" "0000536912" "0" "10" "9" "135947018" "135947018" "subst" "0" "01804" "CEL_000101" "g.135947018A>G" "" "" "" "CEL(NM_001807.3):c.2138A>G (p.(Glu713Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071631A>G" "" "benign" "" "0000536914" "0" "10" "9" "135947020" "135947020" "subst" "0" "01804" "CEL_000103" "g.135947020A>G" "" "" "" "CEL(NM_001807.3):c.2140A>G (p.(Thr714Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071633A>G" "" "benign" "" "0000536915" "0" "30" "9" "135947023" "135947023" "subst" "0.0024873" "01804" "CEL_000104" "g.135947023G>A" "" "" "" "CEL(NM_001807.3):c.2143G>A (p.(Ala715Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071636G>A" "" "likely benign" "" "0000536916" "0" "10" "9" "135947023" "135947023" "subst" "3.79741E-5" "01804" "CEL_000105" "g.135947023G>C" "" "" "" "CEL(NM_001807.3):c.2143G>C (p.(Ala715Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071636G>C" "" "benign" "" "0000536917" "0" "10" "9" "135947032" "135947032" "subst" "3.65895E-5" "01804" "CEL_000106" "g.135947032C>A" "" "" "" "CEL(NM_001807.3):c.2152C>A (p.(Pro718Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071645C>A" "" "benign" "" "0000536918" "0" "10" "9" "135947034" "135947034" "subst" "4.1761E-5" "01804" "CEL_000107" "g.135947034G>C" "" "" "" "CEL(NM_001807.3):c.2154G>C (p.(Pro718=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071647G>C" "" "benign" "" "0000536920" "0" "30" "9" "135947046" "135947046" "subst" "1.27794E-5" "01804" "CEL_000109" "g.135947046C>T" "" "" "" "CEL(NM_001807.3):c.2166C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071659C>T" "" "likely benign" "" "0000536921" "0" "10" "9" "135947049" "135947049" "subst" "7.26341E-5" "01804" "CEL_000110" "g.135947049C>T" "" "" "" "CEL(NM_001807.3):c.2169C>T (p.(Ser723=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071662C>T" "" "benign" "" "0000536922" "0" "10" "9" "135947051" "135947051" "subst" "0.000115159" "01804" "CEL_000111" "g.135947051G>A" "" "" "" "CEL(NM_001807.3):c.2171G>A (p.(Gly724Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071664G>A" "" "benign" "" "0000536923" "0" "10" "9" "135947053" "135947053" "subst" "0.000119953" "01804" "CEL_000112" "g.135947053G>A" "" "" "" "CEL(NM_001807.3):c.2173G>A (p.(Ala725Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071666G>A" "" "benign" "" "0000536924" "0" "10" "9" "135947055" "135947055" "subst" "1.28123E-5" "01804" "CEL_000113" "g.135947055C>T" "" "" "" "CEL(NM_001807.3):c.2175C>T (p.(Ala725=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071668C>T" "" "benign" "" "0000536925" "0" "10" "9" "135947056" "135947056" "subst" "2.54065E-5" "01804" "CEL_000114" "g.135947056C>G" "" "" "" "CEL(NM_001807.3):c.2176C>G (p.(Pro726Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071669C>G" "" "benign" "" "0000536926" "0" "30" "9" "135947060" "135947060" "dup" "0" "01804" "CEL_000115" "g.135947060dup" "" "" "" "CEL(NM_001807.3):c.2180dup (p.(Val728Cysfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071673dup" "" "likely benign" "" "0000536927" "0" "10" "9" "135947061" "135947061" "subst" "0.000216566" "01804" "CEL_000116" "g.135947061T>C" "" "" "" "CEL(NM_001807.3):c.2181T>C (p.(Pro727=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071674T>C" "" "benign" "" "0000536928" "0" "10" "9" "135947065" "135947065" "subst" "5.04745E-5" "01804" "CEL_000117" "g.135947065C>A" "" "" "" "CEL(NM_001807.3):c.2185C>A (p.(Pro729Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071678C>A" "" "benign" "" "0000611943" "0" "30" "9" "135946723" "135946723" "subst" "0.00137279" "02325" "CEL_000077" "g.135946723G>C" "" "" "" "CEL(NM_001807.3):c.1843delinsC (p.(Ala615Pro)), CEL(NM_001807.4):c.1843G>C (p.A615P), CEL(NM_001807.6):c.1834G>C (p.A612P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071336G>C" "" "likely benign" "" "0000611944" "0" "30" "9" "135946897" "135946928" "del" "0" "01804" "CEL_000118" "g.135946897_135946928del" "" "" "" "CEL(NM_001807.3):c.2017_2048del (p.(Val673Argfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071510_133071541del" "" "likely benign" "" "0000611945" "0" "10" "9" "135946915" "135946915" "subst" "0.00011325" "01943" "CEL_000086" "g.135946915G>T" "" "" "" "CEL(NM_001807.3):c.2035G>T (p.(Ala679Ser)), CEL(NM_001807.4):c.2035G>T (p.A679S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071528G>T" "" "benign" "" "0000611946" "0" "30" "9" "135946921" "135946921" "subst" "0.000163039" "01943" "CEL_000090" "g.135946921C>G" "" "" "" "CEL(NM_001807.3):c.2041delinsG (p.(Pro681Ala)), CEL(NM_001807.4):c.2041C>G (p.P681A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071534C>G" "" "likely benign" "" "0000622200" "0" "30" "9" "135939787" "135939787" "subst" "3.66596E-5" "01943" "GTF3C5_000011" "g.135939787G>A" "" "" "" "CEL(NM_001807.4):c.76-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133064400G>A" "" "likely benign" "" "0000622201" "0" "10" "9" "135946717" "135946717" "subst" "0.00261792" "01943" "CEL_000072" "g.135946717T>G" "" "" "" "CEL(NM_001807.3):c.1837T>G (p.(Ser613Ala)), CEL(NM_001807.4):c.1837T>G (p.S613A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071330T>G" "" "benign" "" "0000622202" "0" "30" "9" "135946723" "135946723" "subst" "0.00137279" "01943" "CEL_000077" "g.135946723G>C" "" "" "" "CEL(NM_001807.3):c.1843delinsC (p.(Ala615Pro)), CEL(NM_001807.4):c.1843G>C (p.A615P), CEL(NM_001807.6):c.1834G>C (p.A612P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133071336G>C" "" "likely benign" "" "0000656263" "0" "50" "9" "135940591" "135940591" "subst" "0" "02325" "GTF3C5_000012" "g.135940591G>C" "" "" "" "CEL(NM_001807.6):c.505G>C (p.G169R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133065204G>C" "" "VUS" "" "0000678575" "0" "30" "9" "135941932" "135941932" "subst" "0.000629795" "02325" "CEL_000020" "g.135941932G>A" "" "" "" "CEL(NM_001807.3):c.563G>A (p.(Arg188Gln)), CEL(NM_001807.6):c.554G>A (p.R185Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690448" "0" "50" "9" "135942575" "135942575" "subst" "0.000122329" "01943" "CEL_000119" "g.135942575C>T" "" "" "" "CEL(NM_001807.4):c.887C>T (p.P296L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690449" "0" "30" "9" "135945971" "135945971" "subst" "0.000324907" "01943" "CEL_000120" "g.135945971C>T" "" "" "" "CEL(NM_001807.3):c.1419C>T (p.(Pro473=)), CEL(NM_001807.4):c.1419C>T (p.P473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722343" "0" "30" "9" "135939823" "135939823" "subst" "8.93887E-5" "01943" "CEL_000121" "g.135939823G>A" "" "" "" "CEL(NM_001807.4):c.108G>A (p.V36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722344" "0" "50" "9" "135944460" "135944460" "subst" "0" "01943" "CEL_000122" "g.135944460T>C" "" "" "" "CEL(NM_001807.4):c.1109T>C (p.L370P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722345" "0" "50" "9" "135946511" "135946511" "subst" "3.34697E-5" "01943" "CEL_000123" "g.135946511A>G" "" "" "" "CEL(NM_001807.3):c.1631A>G (p.(Tyr544Cys)), CEL(NM_001807.4):c.1631A>G (p.Y544C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000766047" "0" "50" "9" "135946678" "135946678" "subst" "0" "01164" "CEL_000124" "g.135946678G>A" "" "" "" "" "ACMG: PM2_SUP, BP4" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000852162" "0" "30" "9" "135942339" "135942339" "subst" "0.000561218" "01943" "CEL_000141" "g.135942339G>A" "" "" "" "CEL(NM_001807.3):c.786+7G>A (p.(=)), CEL(NM_001807.4):c.786+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861440" "0" "30" "9" "135937442" "135937442" "subst" "1.39925E-5" "01804" "CEL_000125" "g.135937442C>T" "" "" "" "CEL(NM_001807.3):c.62C>T (p.(Ala21Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861441" "0" "10" "9" "135937443" "135937443" "subst" "0.000614688" "01804" "CEL_000126" "g.135937443G>A" "" "" "" "CEL(NM_001807.3):c.63G>A (p.(Ala21=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861442" "0" "30" "9" "135937449" "135937449" "subst" "0" "01804" "CEL_000127" "g.135937449C>T" "" "" "" "CEL(NM_001807.3):c.69C>T (p.(Ala23=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861443" "0" "10" "9" "135937450" "135937450" "subst" "0.000610167" "01804" "CEL_000128" "g.135937450G>T" "" "" "" "CEL(NM_001807.3):c.70G>T (p.(Ala24Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861444" "0" "30" "9" "135937451" "135937451" "subst" "0" "01804" "CEL_000129" "g.135937451C>T" "" "" "" "CEL(NM_001807.3):c.71C>T (p.(Ala24Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861445" "0" "30" "9" "135939797" "135939797" "subst" "6.91681E-5" "01804" "CEL_000130" "g.135939797G>A" "" "" "" "CEL(NM_001807.3):c.82G>A (p.(Ala28Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861446" "0" "30" "9" "135939820" "135939820" "subst" "0" "01804" "CEL_000131" "g.135939820C>G" "" "" "" "CEL(NM_001807.3):c.105C>G (p.(Phe35Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861447" "0" "30" "9" "135939829" "135939829" "subst" "4.46918E-5" "01804" "CEL_000132" "g.135939829C>T" "" "" "" "CEL(NM_001807.3):c.114C>T (p.(Gly38=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861448" "0" "30" "9" "135940077" "135940077" "subst" "0.000105622" "01804" "CEL_000133" "g.135940077A>C" "" "" "" "CEL(NM_001807.3):c.277A>C (p.(Thr93Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861449" "0" "30" "9" "135940411" "135940411" "subst" "8.31532E-6" "01804" "CEL_000134" "g.135940411C>T" "" "" "" "CEL(NM_001807.3):c.350-16C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861450" "0" "10" "9" "135940518" "135940518" "subst" "0.000861026" "01804" "CEL_000135" "g.135940518G>A" "" "" "" "CEL(NM_001807.3):c.441G>A (p.(Leu147=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861451" "0" "30" "9" "135940552" "135940565" "del" "0" "01804" "CEL_000136" "g.135940552_135940565del" "" "" "" "CEL(NM_001807.3):c.475_488del (p.(Val159Leufs*21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861452" "0" "50" "9" "135940582" "135940582" "subst" "0.000166621" "01804" "CEL_000137" "g.135940582G>A" "" "" "" "CEL(NM_001807.3):c.505G>A (p.(Gly169Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861453" "0" "30" "9" "135942005" "135942005" "subst" "2.03302E-5" "01804" "CEL_000138" "g.135942005G>A" "" "" "" "CEL(NM_001807.3):c.636G>A (p.(Thr212=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861454" "0" "30" "9" "135942278" "135942278" "subst" "2.85519E-5" "01804" "CEL_000139" "g.135942278C>T" "" "" "" "CEL(NM_001807.3):c.732C>T (p.(Gly244=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861455" "0" "30" "9" "135942338" "135942338" "subst" "2.04945E-5" "01804" "CEL_000140" "g.135942338C>T" "" "" "" "CEL(NM_001807.3):c.786+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861456" "0" "30" "9" "135942339" "135942339" "subst" "0.000561218" "01804" "CEL_000141" "g.135942339G>A" "" "" "" "CEL(NM_001807.3):c.786+7G>A (p.(=)), CEL(NM_001807.4):c.786+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861457" "0" "10" "9" "135942349" "135942349" "subst" "0" "01804" "CEL_000142" "g.135942349A>T" "" "" "" "CEL(NM_001807.3):c.786+17A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861458" "0" "30" "9" "135942510" "135942510" "subst" "5.2867E-5" "01804" "CEL_000143" "g.135942510C>T" "" "" "" "CEL(NM_001807.3):c.822C>T (p.(Ala274=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861459" "0" "30" "9" "135942516" "135942516" "subst" "4.06722E-5" "01804" "CEL_000144" "g.135942516G>A" "" "" "" "CEL(NM_001807.3):c.828G>A (p.(Arg276=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861460" "0" "50" "9" "135942547" "135942547" "subst" "3.25985E-5" "01804" "CEL_000145" "g.135942547C>T" "" "" "" "CEL(NM_001807.3):c.859C>T (p.(Arg287*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861461" "0" "30" "9" "135942606" "135942606" "subst" "8.20203E-5" "01804" "CEL_000146" "g.135942606C>T" "" "" "" "CEL(NM_001807.3):c.904+14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861462" "0" "30" "9" "135944051" "135944051" "subst" "4.07425E-6" "01804" "CEL_000147" "g.135944051C>T" "" "" "" "CEL(NM_001807.3):c.905-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861463" "0" "30" "9" "135944141" "135944141" "subst" "3.95577E-5" "01804" "CEL_000148" "g.135944141C>T" "" "" "" "CEL(NM_001807.3):c.987C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861464" "0" "30" "9" "135944148" "135944148" "subst" "5.41722E-5" "01804" "CEL_000149" "g.135944148G>A" "" "" "" "CEL(NM_001807.3):c.994G>A (p.(Asp332Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861465" "0" "30" "9" "135944183" "135944183" "subst" "0.000144555" "01804" "CEL_000150" "g.135944183C>T" "" "" "" "CEL(NM_001807.3):c.1029C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861466" "0" "30" "9" "135944196" "135944196" "subst" "5.48528E-6" "01804" "CEL_000151" "g.135944196G>A" "" "" "" "CEL(NM_001807.3):c.1042G>A (p.(Ala348Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861467" "0" "30" "9" "135944497" "135944497" "subst" "0.00018149" "01804" "CEL_000152" "g.135944497C>T" "" "" "" "CEL(NM_001807.3):c.1146C>T (p.(Gly382=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861468" "0" "30" "9" "135944498" "135944498" "subst" "0" "01804" "CEL_000153" "g.135944498G>A" "" "" "" "CEL(NM_001807.3):c.1147G>A (p.(Ala383Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861469" "0" "30" "9" "135945962" "135945962" "subst" "8.12315E-6" "01804" "CEL_000154" "g.135945962C>T" "" "" "" "CEL(NM_001807.3):c.1410C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861470" "0" "10" "9" "135945971" "135945971" "subst" "0.000324907" "01804" "CEL_000120" "g.135945971C>T" "" "" "" "CEL(NM_001807.3):c.1419C>T (p.(Pro473=)), CEL(NM_001807.4):c.1419C>T (p.P473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861471" "0" "30" "9" "135945971" "135945971" "del" "0" "01804" "CEL_000155" "g.135945971del" "" "" "" "CEL(NM_001807.3):c.1419del (p.(Thr474ArgfsTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861472" "0" "30" "9" "135945973" "135945974" "ins" "0" "01804" "CEL_000156" "g.135945973_135945974insTCC" "" "" "" "CEL(NM_001807.3):c.1420_1421insCTC (p.(Thr474_Gly475insPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861473" "0" "10" "9" "135946010" "135946010" "subst" "9.7496E-5" "01804" "CEL_000157" "g.135946010C>T" "" "" "" "CEL(NM_001807.3):c.1458C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861474" "0" "30" "9" "135946015" "135946015" "subst" "0" "01804" "CEL_000001" "g.135946015T>C" "" "" "" "CEL(NM_001807.3):c.1463T>C (p.(Ile488Thr)), CEL(NM_001807.4):c.1463T>C (p.I488T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861475" "0" "30" "9" "135946038" "135946038" "subst" "0.000166575" "01804" "CEL_000158" "g.135946038A>C" "" "" "" "CEL(NM_001807.3):c.1486A>C (p.(Lys496Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861476" "0" "30" "9" "135946052" "135946052" "subst" "0.000205016" "01804" "CEL_000159" "g.135946052C>T" "" "" "" "CEL(NM_001807.3):c.1493+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861477" "0" "30" "9" "135946362" "135946362" "subst" "0.000383454" "01804" "CEL_000160" "g.135946362C>T" "" "" "" "CEL(NM_001807.3):c.1494-12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861478" "0" "30" "9" "135946388" "135946388" "subst" "8.13623E-6" "01804" "CEL_000161" "g.135946388G>A" "" "" "" "CEL(NM_001807.3):c.1508G>A (p.(Gly503Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861479" "0" "30" "9" "135946507" "135946507" "subst" "7.9686E-5" "01804" "CEL_000162" "g.135946507C>T" "" "" "" "CEL(NM_001807.3):c.1627C>T (p.(Arg543Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861480" "0" "30" "9" "135946511" "135946511" "subst" "3.34697E-5" "01804" "CEL_000123" "g.135946511A>G" "" "" "" "CEL(NM_001807.3):c.1631A>G (p.(Tyr544Cys)), CEL(NM_001807.4):c.1631A>G (p.Y544C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861481" "0" "10" "9" "135946587" "135946587" "subst" "0.000836888" "01804" "CEL_000163" "g.135946587C>T" "" "" "" "CEL(NM_001807.3):c.1707C>T (p.(Ser569=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861482" "0" "30" "9" "135946605" "135946637" "del" "0" "01804" "CEL_000164" "g.135946605_135946637del" "" "" "" "CEL(NM_001807.3):c.1725_1757del (p.(Glu581_Ser591del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861483" "0" "30" "9" "135946669" "135946669" "subst" "0.000227977" "01804" "CEL_000165" "g.135946669C>A" "" "" "" "CEL(NM_001807.3):c.1789C>A (p.(Pro597Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861484" "0" "10" "9" "135946684" "135946684" "subst" "8.40831E-5" "01804" "CEL_000166" "g.135946684T>G" "" "" "" "CEL(NM_001807.3):c.1804T>G (p.(Ser602Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861485" "0" "10" "9" "135946689" "135946689" "subst" "0.000570776" "01804" "CEL_000167" "g.135946689G>C" "" "" "" "CEL(NM_001807.3):c.1809G>C (p.(Gly603=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861486" "0" "30" "9" "135946690" "135946690" "subst" "0.000585504" "01804" "CEL_000168" "g.135946690G>A" "" "" "" "CEL(NM_001807.3):c.1810G>A (p.(Ala604Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861487" "0" "30" "9" "135946690" "135946690" "del" "0" "01804" "CEL_000169" "g.135946690del" "" "" "" "CEL(NM_001807.3):c.1810del (p.(Ala604Profs*103))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861488" "0" "10" "9" "135946691" "135946691" "subst" "0.000159179" "01804" "CEL_000170" "g.135946691C>A" "" "" "" "CEL(NM_001807.3):c.1811delinsA (p.(Ala604Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861489" "0" "30" "9" "135946699" "135946862" "del" "0" "01804" "CEL_000171" "g.135946699_135946862del" "" "" "" "CEL(NM_001807.3):c.1819_1982del (p.(Val607Argfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861490" "0" "30" "9" "135946710" "135946710" "subst" "6.16878E-5" "01804" "CEL_000172" "g.135946710G>A" "" "" "" "CEL(NM_001807.3):c.1830G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861491" "0" "30" "9" "135946712" "135946712" "subst" "4.10139E-5" "01804" "CEL_000173" "g.135946712G>A" "" "" "" "CEL(NM_001807.3):c.1832G>A (p.(Gly611Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861492" "0" "10" "9" "135946721" "135946722" "ins" "2.58505E-5" "01804" "CEL_000174" "g.135946721_135946722insC" "" "" "" "CEL(NM_001807.3):c.1841_1842insC (p.(Ala615GlyfsTer9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861493" "0" "30" "9" "135946722" "135946723" "del" "0" "01804" "CEL_000175" "g.135946722_135946723del" "" "" "" "CEL(NM_001807.3):c.1840_1841del (p.(Ala615ProfsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861494" "0" "30" "9" "135946722" "135946735" "del" "0" "01804" "CEL_000176" "g.135946722_135946735del" "" "" "" "CEL(NM_001807.3):c.1842_1855del (p.(Pro616Hisfs*3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861495" "0" "10" "9" "135946735" "135946735" "subst" "0.000725204" "01804" "CEL_000177" "g.135946735C>A" "" "" "" "CEL(NM_001807.3):c.1855C>A (p.(Pro619Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861496" "0" "10" "9" "135946737" "135946737" "subst" "0.00311634" "01804" "CEL_000178" "g.135946737G>C" "" "" "" "CEL(NM_001807.3):c.1857G>C (p.(Pro619=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861497" "0" "10" "9" "135946755" "135946755" "subst" "0" "01804" "CEL_000179" "g.135946755G>C" "" "" "" "CEL(NM_001807.3):c.1875G>C (p.(Gly625=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861498" "0" "30" "9" "135946874" "135946874" "subst" "0" "01804" "CEL_000180" "g.135946874C>T" "" "" "" "CEL(NM_001807.3):c.1994C>T (p.(Thr665Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861499" "0" "30" "9" "135946882" "135946914" "del" "0" "01804" "CEL_000181" "g.135946882_135946914del" "" "" "" "CEL(NM_001807.3):c.2002_2034del (p.(Ser668_Asp678del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861500" "0" "10" "9" "135946882" "135946914" "dup" "0" "01804" "CEL_000182" "g.135946882_135946914dup" "" "" "" "CEL(NM_001807.3):c.2002_2034dup (p.(Ser668_Asp678dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861501" "0" "30" "9" "135946884" "135946884" "subst" "0" "01804" "CEL_000183" "g.135946884C>T" "" "" "" "CEL(NM_001807.3):c.2004C>T (p.(Ser668=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861502" "0" "30" "9" "135946887" "135946887" "subst" "0" "01804" "CEL_000184" "g.135946887C>G" "" "" "" "CEL(NM_001807.3):c.2007delinsG (p.(Gly669=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861503" "0" "30" "9" "135946896" "135946896" "del" "0" "01804" "CEL_000185" "g.135946896del" "" "" "" "CEL(NM_001807.3):c.2016del (p.(Val673Cysfs*34))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861504" "0" "30" "9" "135946901" "135946901" "subst" "0" "01804" "CEL_000186" "g.135946901C>T" "" "" "" "CEL(NM_001807.3):c.2021C>T (p.(Pro674Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861505" "0" "50" "9" "135946919" "135946920" "ins" "0" "01804" "CEL_000187" "g.135946919_135946920insC" "" "" "" "CEL(NM_001807.3):c.2039_2040insC (p.(Pro681AlafsTer9)), CEL(NM_001807.6):c.2030_2031insC (p.P678Afs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861506" "0" "50" "9" "135946929" "135946995" "del" "0" "01804" "CEL_000188" "g.135946929_135946995del" "" "" "" "CEL(NM_001807.3):c.2049_2115del (p.(Val684*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861507" "0" "30" "9" "135946935" "135946935" "subst" "0.000164814" "01804" "CEL_000189" "g.135946935G>A" "" "" "" "CEL(NM_001807.3):c.2055G>A (p.(Pro685=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861508" "0" "30" "9" "135946935" "135946935" "subst" "0" "01804" "CEL_000190" "g.135946935G>C" "" "" "" "CEL(NM_001807.3):c.2055G>C (p.(Pro685=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861509" "0" "30" "9" "135946950" "135946950" "subst" "1.00796E-5" "01804" "CEL_000191" "g.135946950C>T" "" "" "" "CEL(NM_001807.3):c.2070C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861510" "0" "30" "9" "135946952" "135946952" "subst" "0.000247821" "01804" "CEL_000192" "g.135946952G>A" "" "" "" "CEL(NM_001807.3):c.2072G>A (p.(Gly691Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861511" "0" "30" "9" "135946952" "135947017" "del" "2.99661E-5" "01804" "CEL_000193" "g.135946952_135947017del" "" "" "" "CEL(NM_001807.3):c.2072_2137del (p.(Gly691_Ser712del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861512" "0" "30" "9" "135946954" "135946954" "subst" "0" "01804" "CEL_000194" "g.135946954G>A" "" "" "" "CEL(NM_001807.3):c.2074G>A (p.(Ala692Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861513" "0" "30" "9" "135946983" "135947081" "del" "0" "01804" "CEL_000195" "g.135946983_135947081del" "" "" "" "CEL(NM_001807.3):c.2103_2201del (p.(Gly702_Ser734del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861514" "0" "30" "9" "135946985" "135947017" "del" "0.00028407" "01804" "CEL_000196" "g.135946985_135947017del" "" "" "" "CEL(NM_001807.3):c.2105_2137del (p.(Gly702_Ser712del)), CEL(NM_001807.6):c.2096_2128del (p.G699_S709del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861515" "0" "30" "9" "135946989" "135946989" "subst" "3.59195E-5" "01804" "CEL_000197" "g.135946989C>T" "" "" "" "CEL(NM_001807.3):c.2109C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861516" "0" "30" "9" "135946995" "135947060" "del" "0" "01804" "CEL_000198" "g.135946995_135947060del" "" "" "" "CEL(NM_001807.3):c.2115_2180del (p.(Thr707_Val728del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861517" "0" "30" "9" "135946996" "135946996" "subst" "0.000231426" "01804" "CEL_000199" "g.135946996G>A" "" "" "" "CEL(NM_001807.3):c.2116G>A (p.(Val706Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861518" "0" "30" "9" "135946999" "135947031" "del" "0" "01804" "CEL_000200" "g.135946999_135947031del" "" "" "" "CEL(NM_001807.3):c.2119_2151del (p.(Thr707_Val717del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861519" "0" "30" "9" "135947018" "135947050" "dup" "0" "01804" "CEL_000201" "g.135947018_135947050dup" "" "" "" "CEL(NM_001807.3):c.2122_2154dup (p.(Glu713_Ser723dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861520" "0" "10" "9" "135947022" "135947022" "subst" "1.85951E-5" "01804" "CEL_000202" "g.135947022C>T" "" "" "" "CEL(NM_001807.3):c.2142C>T (p.(Thr714=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861521" "0" "10" "9" "135947028" "135947028" "subst" "4.49741E-5" "01804" "CEL_000203" "g.135947028C>T" "" "" "" "CEL(NM_001807.3):c.2148C>T (p.(Pro716=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861522" "0" "30" "9" "135947034" "135947034" "subst" "0.000621775" "01804" "CEL_000204" "g.135947034G>A" "" "" "" "CEL(NM_001807.3):c.2154delinsA (p.(Pro718=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861523" "0" "30" "9" "135947034" "135947066" "del" "0.000112435" "01804" "CEL_000205" "g.135947034_135947066del" "" "" "" "CEL(NM_001807.3):c.2154_2186del (p.(Gly724_Ser734del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861524" "0" "30" "9" "135947040" "135947040" "subst" "0.000407784" "01804" "CEL_000206" "g.135947040G>A" "" "" "" "CEL(NM_001807.3):c.2160G>A (p.(Thr720=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861525" "0" "10" "9" "135947051" "135947083" "del" "0" "01804" "CEL_000207" "g.135947051_135947083del" "" "" "" "CEL(NM_001807.3):c.2171_2203del (p.(Gly724_Ser734del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861526" "0" "30" "9" "135947056" "135947063" "del" "8.96861E-5" "01804" "CEL_000208" "g.135947056_135947063del" "" "" "" "CEL(NM_001807.3):c.2176_2183del (p.(Pro726Alafs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861527" "0" "30" "9" "135947060" "135947060" "subst" "0.000167911" "01804" "CEL_000209" "g.135947060C>T" "" "" "" "CEL(NM_001807.3):c.2180C>T (p.(Pro727Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861528" "0" "30" "9" "135947070" "135947094" "del" "8.75949E-5" "01804" "CEL_000210" "g.135947070_135947094del" "" "" "" "CEL(NM_001807.3):c.2190_2214del (p.(Thr731Cysfs*22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861529" "0" "10" "9" "135947086" "135947086" "subst" "0" "01804" "CEL_000211" "g.135947086G>A" "" "" "" "CEL(NM_001807.3):c.2206G>A (p.(Ala736Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861530" "0" "10" "9" "135947088" "135947088" "subst" "3.31774E-5" "01804" "CEL_000212" "g.135947088T>C" "" "" "" "CEL(NM_001807.3):c.2208T>C (p.(Ala736=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861531" "0" "10" "9" "135947094" "135947094" "subst" "5.38673E-5" "01804" "CEL_000213" "g.135947094T>C" "" "" "" "CEL(NM_001807.3):c.2214T>C (p.(Pro738=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861532" "0" "10" "9" "135947100" "135947100" "subst" "9.51892E-5" "01804" "CEL_000214" "g.135947100C>G" "" "" "" "CEL(NM_001807.3):c.2220C>G (p.(Pro740=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861533" "0" "50" "9" "135947105" "135947106" "ins" "0" "01804" "CEL_000215" "g.135947105_135947106insGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCAC" "" "" "" "CEL(NM_001807.3):c.2225_2226insGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCAC (p.(Thr742_Asp743insGlyAspSerGluAlaAlaProValPro...))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881868" "0" "30" "9" "135939908" "135939908" "subst" "0" "01741" "CEL_000216" "g.135939908C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "" "0000888685" "0" "30" "9" "135940048" "135940048" "subst" "0.000589115" "01804" "GTF3C5_000004" "g.135940048T>C" "" "" "" "CEL(NM_001807.3):c.248T>C (p.(Phe83Ser)), CEL(NM_001807.4):c.248T>C (p.F83S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888686" "0" "30" "9" "135940511" "135940511" "subst" "4.06154E-6" "01804" "CEL_000217" "g.135940511A>T" "" "" "" "CEL(NM_001807.3):c.434A>T (p.(Asn145Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888687" "0" "30" "9" "135942524" "135942524" "subst" "0" "01804" "CEL_000218" "g.135942524A>G" "" "" "" "CEL(NM_001807.3):c.836A>G (p.(Gln279Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888688" "0" "30" "9" "135944110" "135944110" "del" "0" "01804" "CEL_000219" "g.135944110del" "" "" "" "CEL(NM_001807.3):c.956del (p.(Ile319ThrfsTer18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888689" "0" "30" "9" "135944543" "135944543" "subst" "0.000104541" "01804" "CEL_000220" "g.135944543C>T" "" "" "" "CEL(NM_001807.3):c.1192C>T (p.(Pro398Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888690" "0" "30" "9" "135946634" "135946634" "subst" "1.54816E-5" "01804" "CEL_000221" "g.135946634T>C" "" "" "" "CEL(NM_001807.3):c.1754T>C (p.(Val585Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888691" "0" "30" "9" "135946731" "135946731" "del" "0" "01804" "CEL_000222" "g.135946731del" "" "" "" "CEL(NM_001807.3):c.1851del (p.(Val618Cysfs*89))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888692" "0" "30" "9" "135947049" "135947081" "dup" "8.3522E-5" "01804" "CEL_000223" "g.135947049_135947081dup" "" "" "" "CEL(NM_001807.3):c.2169_2201dup (p.(Gly724_Ser734dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888693" "0" "50" "9" "135947073" "135947105" "dup" "0" "01804" "CEL_000224" "g.135947073_135947105dup" "" "" "" "CEL(NM_001807.3):c.2176_2177insCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTG (p.(Gly732_Thr742dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913103" "0" "30" "9" "135940167" "135940167" "subst" "0" "01804" "CEL_000225" "g.135940167T>C" "" "" "" "CEL(NM_001807.3):c.349+18T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913104" "0" "50" "9" "135942258" "135942258" "subst" "1.63674E-5" "01804" "CEL_000226" "g.135942258C>T" "" "" "" "CEL(NM_001807.3):c.712C>T (p.(Arg238*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913105" "0" "30" "9" "135946547" "135946547" "subst" "2.50956E-5" "01804" "CEL_000227" "g.135946547C>T" "" "" "" "CEL(NM_001807.3):c.1667C>T (p.(Thr556Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920729" "0" "90" "9" "135938749" "135956704" "dup" "0" "04419" "CEL_000228" "g.(?_135938749)_(135956704_?)dup" "" "{PMID:Kuroda 2018:29520887}" "" "hg19 135938749-135956704dup" "18 kb duplication affecting CEL" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000924983" "0" "30" "9" "135940599" "135940599" "subst" "0.000313041" "01804" "GTF3C5_000013" "g.135940599C>T" "" "" "" "CEL(NM_001807.3):c.522C>T (p.(Leu174=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924984" "0" "30" "9" "135941951" "135941951" "subst" "0.000320976" "01804" "CEL_000229" "g.135941951T>C" "" "" "" "CEL(NM_001807.3):c.582T>C (p.(Ile194=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924985" "0" "30" "9" "135944506" "135944506" "subst" "0" "01804" "CEL_000230" "g.135944506G>A" "" "" "" "CEL(NM_001807.3):c.1155G>A (p.(Thr385=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924986" "0" "30" "9" "135946610" "135946610" "subst" "1.34451E-5" "02325" "CEL_000053" "g.135946610C>T" "" "" "" "CEL(NM_001807.6):c.1721C>T (p.T574M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924987" "0" "30" "9" "135946743" "135946743" "subst" "6.15536E-5" "01804" "CEL_000231" "g.135946743G>A" "" "" "" "CEL(NM_001807.3):c.1863G>A (p.(Thr621=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924988" "0" "50" "9" "135947067" "135947067" "subst" "5.44174E-5" "01804" "CEL_000232" "g.135947067C>G" "" "" "" "CEL(NM_001807.3):c.2187C>G (p.(Pro729=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929546" "0" "30" "9" "135945865" "135945865" "subst" "1.22051E-5" "01804" "CEL_000233" "g.135945865C>T" "" "" "" "CEL(NM_001807.3):c.1313C>T (p.(Ala438Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929547" "0" "30" "9" "135946368" "135946368" "subst" "4.07478E-6" "01804" "CEL_000234" "g.135946368C>G" "" "" "" "CEL(NM_001807.3):c.1494-6C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949212" "0" "50" "9" "135940028" "135940028" "del" "0" "02325" "GTF3C5_000014" "g.135940028del" "" "" "" "CEL(NM_001807.6):c.218-1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949213" "0" "30" "9" "135945926" "135945926" "subst" "8.12229E-6" "01804" "CEL_000235" "g.135945926T>C" "" "" "" "CEL(NM_001807.3):c.1374T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949214" "0" "30" "9" "135946477" "135946477" "subst" "6.25318E-5" "01804" "CEL_000236" "g.135946477A>G" "" "" "" "CEL(NM_001807.3):c.1597A>G (p.(Met533Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949215" "0" "50" "9" "135946627" "135946659" "dup" "0" "01804" "CEL_000237" "g.135946627_135946659dup" "" "" "" "CEL(NM_001807.3):c.1747_1779dup (p.(Ala583_Ala593dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949216" "0" "30" "9" "135946950" "135947081" "del" "0" "01804" "CEL_000238" "g.135946950_135947081del" "" "" "" "CEL(NM_001807.3):c.2070_2201del (p.(Gly691_Ser734del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965234" "0" "30" "9" "135942221" "135942221" "subst" "5.43097E-5" "01804" "CEL_000239" "g.135942221G>A" "" "" "" "CEL(NM_001807.3):c.679-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965235" "0" "30" "9" "135945984" "135945984" "subst" "0" "01804" "CEL_000240" "g.135945984C>T" "" "" "" "CEL(NM_001807.3):c.1432C>T (p.(Pro478Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965236" "0" "50" "9" "135946665" "135946665" "dup" "0" "01804" "CEL_000241" "g.135946665dup" "" "" "" "CEL(NM_001807.3):c.1785dup (p.(Val596ArgfsTer6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965237" "0" "50" "9" "135946980" "135946981" "ins" "0" "01804" "CEL_000242" "g.135946980_135946981insGCCGGGCCCCCCCCGTGCCGCCCACGGGTGAC" "" "" "" "CEL(NM_001807.3):c.2100_2101insGCCGGGCCCCCCCCGTGCCGCCCACGGGTGAC (p.(Ser701AlafsTer17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965238" "0" "30" "9" "135946981" "135946981" "subst" "0" "01804" "CEL_000243" "g.135946981T>G" "" "" "" "CEL(NM_001807.3):c.2101T>G (p.(Ser701Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965239" "0" "50" "9" "135946987" "135946987" "del" "0" "01804" "CEL_000244" "g.135946987del" "" "" "" "CEL(NM_001807.3):c.2107del (p.(Ala703ProfsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972045" "0" "50" "9" "135946674" "135946674" "dup" "0" "03779" "CEL_000241" "g.135946674dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000972046" "0" "10" "9" "135946938" "135946938" "dup" "0" "03779" "CEL_000009" "g.135946938dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000972047" "0" "10" "9" "135946872" "135946872" "dup" "0" "03779" "CEL_000246" "g.135946872dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000972048" "0" "10" "9" "135946839" "135946839" "dup" "0" "03779" "CEL_000245" "g.135946839dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000978467" "0" "50" "9" "135932194" "135932194" "subst" "0" "01804" "GTF3C5_000016" "g.135932194C>T" "" "" "" "GTF3C5(NM_012087.4):c.1292C>T (p.(Ser431Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978468" "0" "50" "9" "135942288" "135942288" "subst" "0" "01804" "CEL_000247" "g.135942288A>G" "" "" "" "CEL(NM_001807.3):c.742A>G (p.(Ser248Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978469" "0" "30" "9" "135945889" "135945889" "subst" "0" "01804" "CEL_000248" "g.135945889G>C" "" "" "" "CEL(NM_001807.3):c.1337G>C (p.(Arg446Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978470" "0" "30" "9" "135946573" "135946573" "subst" "1.26411E-5" "01804" "CEL_000249" "g.135946573C>T" "" "" "" "CEL(NM_001807.3):c.1693C>T (p.(Pro565Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978471" "0" "70" "9" "135946665" "135946665" "del" "0" "01804" "CEL_000250" "g.135946665del" "" "" "" "CEL(NM_001807.3):c.1785del (p.(Val596CysfsTer111))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978472" "0" "50" "9" "135946742" "135946742" "subst" "0.000106587" "01804" "CEL_000251" "g.135946742C>T" "" "" "" "CEL(NM_001807.6):c.1853C>T (p.(Thr618Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978473" "0" "30" "9" "135946756" "135946756" "subst" "0" "01804" "CEL_000252" "g.135946756G>C" "" "" "" "CEL(NM_001807.3):c.1876G>C (p.(Ala626Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978474" "0" "30" "9" "135946792" "135946792" "subst" "0" "01804" "CEL_000253" "g.135946792C>G" "" "" "" "CEL(NM_001807.3):c.1912C>G (p.(Pro638Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978475" "0" "30" "9" "135946821" "135946821" "subst" "0" "01804" "CEL_000254" "g.135946821G>C" "" "" "" "CEL(NM_001807.3):c.1941G>C (p.(Gly647=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978476" "0" "30" "9" "135947051" "135947052" "ins" "1.8987E-5" "01804" "CEL_000255" "g.135947051_135947052insCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG" "" "" "" "CEL(NM_001807.3):c.2171_2172insCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG (p.(Gly724_Ser734dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997594" "0" "30" "9" "135942548" "135942548" "subst" "2.85118E-5" "01804" "CEL_000256" "g.135942548G>A" "" "" "" "CEL(NM_001807.3):c.860G>A (p.(Arg287Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997595" "0" "50" "9" "135946919" "135946920" "ins" "0" "02325" "CEL_000187" "g.135946919_135946920insC" "" "" "" "CEL(NM_001807.3):c.2039_2040insC (p.(Pro681AlafsTer9)), CEL(NM_001807.6):c.2030_2031insC (p.P678Afs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014508" "0" "50" "9" "135946933" "135946933" "subst" "0" "01804" "CEL_000257" "g.135946933C>A" "" "" "" "CEL(NM_001807.3):c.2053C>A (p.(Pro685Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014509" "0" "50" "9" "135946957" "135946957" "subst" "1.90723E-5" "01804" "CEL_000258" "g.135946957C>G" "" "" "" "CEL(NM_001807.3):c.2077C>G (p.(Pro693Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014510" "0" "50" "9" "135946985" "135947017" "del" "0.00028407" "02325" "CEL_000196" "g.135946985_135947017del" "" "" "" "CEL(NM_001807.3):c.2105_2137del (p.(Gly702_Ser712del)), CEL(NM_001807.6):c.2096_2128del (p.G699_S709del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025605" "0" "30" "9" "135946790" "135946790" "subst" "0" "01804" "CEL_000259" "g.135946790C>G" "" "" "" "CEL(NM_001807.3):c.1910C>G (p.(Ala637Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025606" "0" "50" "9" "135946864" "135946864" "subst" "0" "01804" "CEL_000260" "g.135946864G>A" "" "" "" "CEL(NM_001807.3):c.1984G>A (p.(Val662Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037260" "0" "50" "9" "135939933" "135939933" "subst" "4.06412E-6" "01804" "GTF3C5_000017" "g.135939933G>A" "" "" "" "CEL(NM_001807.6):c.209G>A (p.(Gly70Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037261" "0" "30" "9" "135942462" "135942462" "subst" "0.00055677" "01804" "CEL_000261" "g.135942462G>C" "" "" "" "CEL(NM_001807.3):c.787-13G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037262" "0" "50" "9" "135946665" "135946666" "ins" "0" "01804" "CEL_000262" "g.135946665_135946666insT" "" "" "" "CEL(NM_001807.6):c.1776_1777insT (p.(Val593Cysfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037263" "0" "30" "9" "135946836" "135946836" "subst" "0" "01804" "CEL_000263" "g.135946836G>T" "" "" "" "CEL(NM_001807.3):c.1956G>T (p.(Pro652=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037264" "0" "30" "9" "135946930" "135946930" "subst" "0" "01804" "CEL_000264" "g.135946930G>A" "" "" "" "CEL(NM_001807.3):c.2050G>A (p.(Val684Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037265" "0" "30" "9" "135946951" "135946951" "subst" "8.24249E-5" "01804" "CEL_000265" "g.135946951G>A" "" "" "" "CEL(NM_001807.3):c.2071G>A (p.(Gly691Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046184" "0" "30" "9" "135946999" "135946999" "subst" "0.000777368" "02325" "CEL_000096" "g.135946999A>C" "" "" "" "CEL(NM_001807.3):c.2119A>C (p.(Thr707Pro)), CEL(NM_001807.6):c.2110A>C (p.T704P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053397" "0" "30" "9" "135942008" "135942008" "subst" "6.0989E-5" "01804" "CEL_000266" "g.135942008C>T" "" "" "" "CEL(NM_001807.3):c.639C>T (p.(Leu213=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053398" "0" "50" "9" "135946014" "135946014" "subst" "0" "01804" "CEL_000267" "g.135946014A>G" "" "" "" "CEL(NM_001807.3):c.1462A>G (p.(Ile488Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053399" "0" "50" "9" "135946589" "135946654" "del" "0" "01804" "CEL_000268" "g.135946589_135946654del" "" "" "" "CEL(NM_001807.3):c.1709_1774del (p.(Glu570_Ser591del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053400" "0" "30" "9" "135946717" "135946914" "del" "0" "01804" "CEL_000269" "g.135946717_135946914del" "" "" "" "CEL(NM_001807.3):c.1837_2034del (p.(Ser613_Asp678del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053401" "0" "30" "9" "135946787" "135946787" "subst" "0" "01804" "CEL_000270" "g.135946787G>A" "" "" "" "CEL(NM_001807.3):c.1907G>A (p.(Gly636Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053402" "0" "50" "9" "135946830" "135946830" "del" "0" "01804" "CEL_000271" "g.135946830del" "" "" "" "CEL(NM_001807.3):c.1950del (p.(Val651CysfsTer56))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060916" "0" "70" "9" "135946912" "135946912" "dup" "0" "00006" "CEL_000272" "g.135946912dup" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; 2/142 in controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.133071525dup" "" "likely pathogenic" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CEL ## Count = 285 "{{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}}" "0000273087" "00025815" "10" "1463" "0" "1463" "0" "c.1463T>C" "r.(?)" "p.(Ile488Thr)" "" "0000273088" "00025815" "10" "1983" "0" "1983" "0" "c.1983del" "r.(?)" "p.(Val662CysfsTer45)" "" "0000273089" "00025815" "30" "2073" "0" "2073" "0" "c.2073C>G" "r.(?)" "p.(Gly691=)" "" "0000273090" "00025815" "30" "2106" "0" "2106" "0" "c.2106G>C" "r.(?)" "p.(Gly702=)" "" "0000332861" "00025815" "10" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Ile)" "" "0000332862" "00025815" "30" "1656" "0" "1656" "0" "c.1656G>A" "r.(?)" "p.(Leu552=)" "" "0000332863" "00025815" "30" "1810" "0" "1810" "0" "c.1810G>C" "r.(?)" "p.(Ala604Pro)" "" "0000332864" "00025815" "10" "1824" "0" "1824" "0" "c.1824G>A" "r.(?)" "p.(Pro608=)" "" "0000332865" "00025815" "10" "1844" "0" "1844" "0" "c.1844C>G" "r.(?)" "p.(Ala615Gly)" "" "0000332866" "00025815" "30" "1938" "0" "1938" "0" "c.1938C>T" "r.(?)" "p.(Ser646=)" "" "0000332867" "00025815" "30" "1975" "0" "1975" "0" "c.1975G>C" "r.(?)" "p.(Ala659Pro)" "" "0000332868" "00025815" "30" "1983" "0" "1983" "0" "c.1983del" "r.(?)" "p.(Val662CysfsTer45)" "" "0000332869" "00025815" "30" "2049" "0" "2049" "0" "c.2049dup" "r.(?)" "p.(Val684ArgfsTer6)" "" "0000332870" "00025815" "10" "2049" "0" "2049" "0" "c.2049del" "r.(?)" "p.(Val684CysfsTer23)" "" "0000332871" "00025815" "10" "2073" "0" "2105" "0" "c.2073_2105del" "r.(?)" "p.(Pro696_Val706del)" "" "0000332872" "00025815" "10" "2068" "0" "2068" "0" "c.2068T>G" "r.(?)" "p.(Ser690Ala)" "" "0000332873" "00025815" "10" "2073" "0" "2073" "0" "c.2073C>G" "r.(?)" "p.(Gly691=)" "" "0000332874" "00025815" "10" "2074" "0" "2074" "0" "c.2074G>C" "r.(?)" "p.(Ala692Pro)" "" "0000332875" "00025815" "50" "2082" "0" "2082" "0" "c.2082dup" "r.(?)" "p.(Val695ArgfsTer6)" "" "0000332876" "00025815" "30" "2115" "0" "2115" "0" "c.2115C>T" "r.(?)" "p.(Pro705=)" "" "0000332877" "00025815" "10" "2138" "0" "2170" "0" "c.2138_2170del" "r.(?)" "p.(Glu713_Ser723del)" "" "0000332878" "00025815" "30" "2169" "0" "2201" "0" "c.2169_2201del" "r.(?)" "p.(Gly724_Ser734del)" "" "0000536818" "00025815" "10" "-703" "0" "-703" "0" "c.-703A>G" "r.(?)" "p.(=)" "" "0000536819" "00025815" "30" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Cys)" "" "0000536820" "00025815" "10" "141" "0" "141" "0" "c.141T>C" "r.(?)" "p.(Gly47=)" "" "0000536821" "00025815" "50" "248" "0" "248" "0" "c.248T>C" "r.(?)" "p.(Phe83Ser)" "" "0000536823" "00025815" "30" "362" "0" "362" "0" "c.362T>G" "r.(?)" "p.(Leu121Arg)" "" "0000536824" "00025815" "30" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Val123Ile)" "" "0000536825" "00025815" "30" "411" "0" "411" "0" "c.411C>G" "r.(?)" "p.(Gly137=)" "" "0000536826" "00025815" "10" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Phe142=)" "" "0000536828" "00025815" "30" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188Gln)" "" "0000536830" "00025815" "30" "679" "-5" "679" "-5" "c.679-5C>T" "r.spl?" "p.?" "" "0000536833" "00025815" "30" "786" "16" "786" "17" "c.786+16_786+17del" "r.(=)" "p.(=)" "" "0000536834" "00025815" "30" "787" "-20" "787" "-20" "c.787-20G>T" "r.(=)" "p.(=)" "" "0000536838" "00025815" "30" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Asn325Ser)" "" "0000536839" "00025815" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Tyr327=)" "" "0000536841" "00025815" "50" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(His345Arg)" "" "0000536842" "00025815" "30" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(His345Arg)" "" "0000536843" "00025815" "30" "1041" "0" "1041" "0" "c.1041C>T" "r.(?)" "p.(Phe347=)" "" "0000536845" "00025815" "30" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Val414Ile)" "" "0000536847" "00025815" "30" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Gln479Arg)" "" "0000536849" "00025815" "10" "1494" "-8" "1494" "-8" "c.1494-8C>T" "r.(=)" "p.(=)" "" "0000536850" "00025815" "30" "1510" "0" "1510" "0" "c.1510G>C" "r.(?)" "p.(Asp504His)" "" "0000536851" "00025815" "30" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Arg535Trp)" "" "0000536852" "00025815" "10" "1628" "0" "1628" "0" "c.1628G>A" "r.(?)" "p.(Arg543His)" "" "0000536853" "00025815" "10" "1668" "0" "1668" "0" "c.1668C>G" "r.(?)" "p.(Thr556=)" "" "0000536854" "00025815" "50" "1698" "0" "1698" "0" "c.1698A>G" "r.(?)" "p.(Thr566=)" "" "0000536855" "00025815" "30" "1698" "0" "1698" "0" "c.1698A>G" "r.(?)" "p.(Thr566=)" "" "0000536856" "00025815" "30" "1701" "0" "1701" "0" "c.1701G>T" "r.(?)" "p.(Gly567=)" "" "0000536857" "00025815" "30" "1701" "0" "1701" "0" "c.1701G>T" "r.(?)" "p.(Gly567=)" "" "0000536859" "00025815" "30" "1711" "0" "1743" "0" "c.1711_1743del" "r.(?)" "p.(Ala571_Glu581del)" "" "0000536860" "00025815" "30" "1714" "0" "1714" "0" "c.1714A>G" "r.(?)" "p.(Thr572Ala)" "" "0000536861" "00025815" "30" "1716" "0" "1716" "0" "c.1716T>C" "r.(?)" "p.(Thr572=)" "" "0000536862" "00025815" "30" "1725" "0" "1725" "0" "c.1725C>G" "r.(?)" "p.(Pro575=)" "" "0000536864" "00025815" "10" "1742" "0" "1742" "0" "c.1742A>G" "r.(?)" "p.(Glu581Gly)" "" "0000536865" "00025815" "30" "1742" "0" "1774" "0" "c.1742_1774del" "r.(?)" "p.(Glu581_Ser591del)" "" "0000536866" "00025815" "10" "1744" "0" "1744" "0" "c.1744A>G" "r.(?)" "p.(Thr582Ala)" "" "0000536867" "00025815" "10" "1747" "0" "1747" "0" "c.1747G>C" "r.(?)" "p.(Ala583Pro)" "" "0000536870" "00025815" "30" "1758" "0" "1758" "0" "c.1758G>C" "r.(?)" "p.(Pro586=)" "" "0000536871" "00025815" "30" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(Pro595=)" "" "0000536872" "00025815" "30" "1791" "0" "1791" "0" "c.1791G>C" "r.(?)" "p.(Pro597=)" "" "0000536873" "00025815" "30" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(Ser602=)" "" "0000536875" "00025815" "30" "1808" "0" "1808" "0" "c.1808G>A" "r.(?)" "p.(Gly603Glu)" "" "0000536876" "00025815" "30" "1812" "0" "1812" "0" "c.1812C>T" "r.(?)" "p.(Ala604=)" "" "0000536877" "00025815" "30" "1813" "0" "1813" "0" "c.1813C>G" "r.(?)" "p.(Pro605Ala)" "" "0000536878" "00025815" "30" "1818" "0" "1818" "0" "c.1818C>T" "r.(?)" "p.(Pro606=)" "" "0000536880" "00025815" "30" "1822" "0" "1822" "0" "c.1822C>A" "r.(?)" "p.(Pro608Thr)" "" "0000536881" "00025815" "30" "1824" "0" "1824" "0" "c.1824G>C" "r.(?)" "p.(Pro608=)" "" "0000536882" "00025815" "10" "1837" "0" "1837" "0" "c.1837T>G" "r.(?)" "p.(Ser613Ala)" "" "0000536883" "00025815" "30" "1841" "0" "1841" "0" "c.1841G>A" "r.(?)" "p.(Gly614Glu)" "" "0000536884" "00025815" "10" "1842" "0" "1842" "0" "c.1842G>C" "r.(?)" "p.(Gly614=)" "" "0000536886" "00025815" "30" "1843" "0" "1843" "0" "c.1843G>A" "r.(?)" "p.(Ala615Thr)" "" "0000536887" "00025815" "10" "1843" "0" "1843" "0" "c.1843G>C" "r.(?)" "p.(Ala615Pro)" "" "0000536888" "00025815" "30" "1846" "0" "1846" "0" "c.1846C>G" "r.(?)" "p.(Pro616Ala)" "" "0000536889" "00025815" "30" "1870" "0" "1870" "0" "c.1870T>G" "r.(?)" "p.(Ser624Ala)" "" "0000536891" "00025815" "10" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Pro650Ser)" "" "0000536892" "00025815" "30" "1969" "0" "1969" "0" "c.1969T>G" "r.(?)" "p.(Ser657Ala)" "" "0000536893" "00025815" "30" "1974" "0" "1974" "0" "c.1974G>C" "r.(?)" "p.(Gly658=)" "" "0000536894" "00025815" "30" "2007" "0" "2007" "0" "c.2007C>T" "r.(?)" "p.(Gly669=)" "" "0000536895" "00025815" "30" "2016" "0" "2016" "0" "c.2016dup" "r.(?)" "p.(Val673ArgfsTer6)" "" "0000536896" "00025815" "30" "2035" "0" "2035" "0" "c.2035G>T" "r.(?)" "p.(Ala679Ser)" "" "0000536897" "00025815" "30" "2035" "0" "2100" "0" "c.2035_2100del" "r.(?)" "p.(Ala679_Asp700del)" "" "0000536898" "00025815" "10" "2040" "0" "2040" "0" "c.2040G>C" "r.(?)" "p.(Gly680=)" "" "0000536900" "00025815" "30" "2041" "0" "2041" "0" "c.2041C>G" "r.(?)" "p.(Pro681Ala)" "" "0000536901" "00025815" "30" "2086" "0" "2086" "0" "c.2086C>A" "r.(?)" "p.(Pro696Thr)" "" "0000536902" "00025815" "10" "2088" "0" "2088" "0" "c.2088G>C" "r.(?)" "p.(Pro696=)" "" "0000536905" "00025815" "30" "2106" "0" "2106" "0" "c.2106G>C" "r.(?)" "p.(Gly702=)" "" "0000536906" "00025815" "30" "2112" "0" "2112" "0" "c.2112C>T" "r.(?)" "p.(Pro704=)" "" "0000536907" "00025815" "30" "2119" "0" "2119" "0" "c.2119A>C" "r.(?)" "p.(Thr707Pro)" "" "0000536909" "00025815" "30" "2121" "0" "2121" "0" "c.2121C>G" "r.(?)" "p.(Thr707=)" "" "0000536910" "00025815" "10" "2136" "0" "2136" "0" "c.2136C>T" "r.(?)" "p.(Ser712=)" "" "0000536911" "00025815" "10" "2136" "0" "2201" "0" "c.2136_2201del" "r.(?)" "p.(Thr714_Glu735del)" "" "0000536912" "00025815" "10" "2138" "0" "2138" "0" "c.2138A>G" "r.(?)" "p.(Glu713Gly)" "" "0000536914" "00025815" "10" "2140" "0" "2140" "0" "c.2140A>G" "r.(?)" "p.(Thr714Ala)" "" "0000536915" "00025815" "30" "2143" "0" "2143" "0" "c.2143G>A" "r.(?)" "p.(Ala715Thr)" "" "0000536916" "00025815" "10" "2143" "0" "2143" "0" "c.2143G>C" "r.(?)" "p.(Ala715Pro)" "" "0000536917" "00025815" "10" "2152" "0" "2152" "0" "c.2152C>A" "r.(?)" "p.(Pro718Thr)" "" "0000536918" "00025815" "10" "2154" "0" "2154" "0" "c.2154G>C" "r.(?)" "p.(Pro718=)" "" "0000536920" "00025815" "30" "2166" "0" "2166" "0" "c.2166C>T" "r.(?)" "p.(Asp722=)" "" "0000536921" "00025815" "10" "2169" "0" "2169" "0" "c.2169C>T" "r.(?)" "p.(Ser723=)" "" "0000536922" "00025815" "10" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Gly724Glu)" "" "0000536923" "00025815" "10" "2173" "0" "2173" "0" "c.2173G>A" "r.(?)" "p.(Ala725Thr)" "" "0000536924" "00025815" "10" "2175" "0" "2175" "0" "c.2175C>T" "r.(?)" "p.(Ala725=)" "" "0000536925" "00025815" "10" "2176" "0" "2176" "0" "c.2176C>G" "r.(?)" "p.(Pro726Ala)" "" "0000536926" "00025815" "30" "2180" "0" "2180" "0" "c.2180dup" "r.(?)" "p.(Val728CysfsTer6)" "" "0000536927" "00025815" "10" "2181" "0" "2181" "0" "c.2181T>C" "r.(?)" "p.(Pro727=)" "" "0000536928" "00025815" "10" "2185" "0" "2185" "0" "c.2185C>A" "r.(?)" "p.(Pro729Thr)" "" "0000611943" "00025815" "30" "1843" "0" "1843" "0" "c.1843G>C" "r.(?)" "p.(Ala615Pro)" "" "0000611944" "00025815" "30" "2017" "0" "2048" "0" "c.2017_2048del" "r.(?)" "p.(Val673ArgfsTer6)" "" "0000611945" "00025815" "10" "2035" "0" "2035" "0" "c.2035G>T" "r.(?)" "p.(Ala679Ser)" "" "0000611946" "00025815" "30" "2041" "0" "2041" "0" "c.2041C>G" "r.(?)" "p.(Pro681Ala)" "" "0000622200" "00025815" "30" "76" "-4" "76" "-4" "c.76-4G>A" "r.spl?" "p.?" "" "0000622201" "00025815" "10" "1837" "0" "1837" "0" "c.1837T>G" "r.(?)" "p.(Ser613Ala)" "" "0000622202" "00025815" "30" "1843" "0" "1843" "0" "c.1843G>C" "r.(?)" "p.(Ala615Pro)" "" "0000656263" "00025815" "50" "514" "0" "514" "0" "c.514G>C" "r.(?)" "p.(Gly172Arg)" "" "0000678575" "00025815" "30" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188Gln)" "" "0000690448" "00025815" "50" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Pro296Leu)" "" "0000690449" "00025815" "30" "1419" "0" "1419" "0" "c.1419C>T" "r.(?)" "p.(Pro473=)" "" "0000722343" "00025815" "30" "108" "0" "108" "0" "c.108G>A" "r.(?)" "p.(Val36=)" "" "0000722344" "00025815" "50" "1109" "0" "1109" "0" "c.1109T>C" "r.(?)" "p.(Leu370Pro)" "" "0000722345" "00025815" "50" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Tyr544Cys)" "" "0000766047" "00025815" "50" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Gly600Ser)" "" "0000852162" "00025815" "30" "786" "7" "786" "7" "c.786+7G>A" "r.(=)" "p.(=)" "" "0000861440" "00025815" "30" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Ala21Val)" "" "0000861441" "00025815" "10" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Ala21=)" "" "0000861442" "00025815" "30" "69" "0" "69" "0" "c.69C>T" "r.(?)" "p.(Ala23=)" "" "0000861443" "00025815" "10" "70" "0" "70" "0" "c.70G>T" "r.(?)" "p.(Ala24Ser)" "" "0000861444" "00025815" "30" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Ala24Val)" "" "0000861445" "00025815" "30" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Ala28Thr)" "" "0000861446" "00025815" "30" "105" "0" "105" "0" "c.105C>G" "r.(?)" "p.(Phe35Leu)" "" "0000861447" "00025815" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Gly38=)" "" "0000861448" "00025815" "30" "277" "0" "277" "0" "c.277A>C" "r.(?)" "p.(Thr93Pro)" "" "0000861449" "00025815" "30" "350" "-16" "350" "-16" "c.350-16C>T" "r.(=)" "p.(=)" "" "0000861450" "00025815" "10" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Leu147=)" "" "0000861451" "00025815" "30" "475" "0" "488" "0" "c.475_488del" "r.(?)" "p.(Val159Leufs*21)" "" "0000861452" "00025815" "50" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Gly169Ser)" "" "0000861453" "00025815" "30" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Thr212=)" "" "0000861454" "00025815" "30" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(Gly244=)" "" "0000861455" "00025815" "30" "786" "6" "786" "6" "c.786+6C>T" "r.(=)" "p.(=)" "" "0000861456" "00025815" "30" "786" "7" "786" "7" "c.786+7G>A" "r.(=)" "p.(=)" "" "0000861457" "00025815" "10" "786" "17" "786" "17" "c.786+17A>T" "r.(=)" "p.(=)" "" "0000861458" "00025815" "30" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Ala274=)" "" "0000861459" "00025815" "30" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Arg276=)" "" "0000861460" "00025815" "50" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "" "0000861461" "00025815" "30" "904" "14" "904" "14" "c.904+14C>T" "r.(=)" "p.(=)" "" "0000861462" "00025815" "30" "905" "-8" "905" "-8" "c.905-8C>T" "r.(=)" "p.(=)" "" "0000861463" "00025815" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Asn329=)" "" "0000861464" "00025815" "30" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Asp332Asn)" "" "0000861465" "00025815" "30" "1029" "0" "1029" "0" "c.1029C>T" "r.(?)" "p.(Asp343=)" "" "0000861466" "00025815" "30" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Ala348Thr)" "" "0000861467" "00025815" "30" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(Gly382=)" "" "0000861468" "00025815" "30" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" "" "0000861469" "00025815" "30" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Phe470=)" "" "0000861470" "00025815" "10" "1419" "0" "1419" "0" "c.1419C>T" "r.(?)" "p.(Pro473=)" "" "0000861471" "00025815" "30" "1419" "0" "1419" "0" "c.1419del" "r.(?)" "p.(Thr474Argfs*14)" "" "0000861472" "00025815" "30" "1421" "0" "1422" "0" "c.1421_1422insTCC" "r.(?)" "p.(Thr474_Gly475insPro)" "" "0000861473" "00025815" "10" "1458" "0" "1458" "0" "c.1458C>T" "r.(?)" "p.(Ala486=)" "" "0000861474" "00025815" "30" "1463" "0" "1463" "0" "c.1463T>C" "r.(?)" "p.(Ile488Thr)" "" "0000861475" "00025815" "30" "1486" "0" "1486" "0" "c.1486A>C" "r.(?)" "p.(Lys496Gln)" "" "0000861476" "00025815" "30" "1493" "7" "1493" "7" "c.1493+7C>T" "r.(=)" "p.(=)" "" "0000861477" "00025815" "30" "1494" "-12" "1494" "-12" "c.1494-12C>T" "r.(=)" "p.(=)" "" "0000861478" "00025815" "30" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Gly503Asp)" "" "0000861479" "00025815" "30" "1627" "0" "1627" "0" "c.1627C>T" "r.(?)" "p.(Arg543Cys)" "" "0000861480" "00025815" "30" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Tyr544Cys)" "" "0000861481" "00025815" "10" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Ser569=)" "" "0000861482" "00025815" "30" "1725" "0" "1757" "0" "c.1725_1757del" "r.(?)" "p.(Glu581_Ser591del)" "" "0000861483" "00025815" "30" "1789" "0" "1789" "0" "c.1789C>A" "r.(?)" "p.(Pro597Thr)" "" "0000861484" "00025815" "10" "1804" "0" "1804" "0" "c.1804T>G" "r.(?)" "p.(Ser602Ala)" "" "0000861485" "00025815" "10" "1809" "0" "1809" "0" "c.1809G>C" "r.(?)" "p.(Gly603=)" "" "0000861486" "00025815" "30" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Ala604Thr)" "" "0000861487" "00025815" "30" "1810" "0" "1810" "0" "c.1810del" "r.(?)" "p.(Ala604Profs*103)" "" "0000861488" "00025815" "10" "1811" "0" "1811" "0" "c.1811C>A" "r.(?)" "p.(Ala604Asp)" "" "0000861489" "00025815" "30" "1819" "0" "1982" "0" "c.1819_1982del" "r.(?)" "p.(Val607Argfs*6)" "" "0000861490" "00025815" "30" "1830" "0" "1830" "0" "c.1830G>A" "r.(?)" "p.(Thr610=)" "" "0000861491" "00025815" "30" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Gly611Asp)" "" "0000861492" "00025815" "10" "1841" "0" "1842" "0" "c.1841_1842insC" "r.(?)" "p.(Ala615GlyfsTer9)" "" "0000861493" "00025815" "30" "1842" "0" "1843" "0" "c.1842_1843del" "r.(?)" "p.(Ala615Profs*8)" "" "0000861494" "00025815" "30" "1842" "0" "1855" "0" "c.1842_1855del" "r.(?)" "p.(Pro616Hisfs*3)" "" "0000861495" "00025815" "10" "1855" "0" "1855" "0" "c.1855C>A" "r.(?)" "p.(Pro619Thr)" "" "0000861496" "00025815" "10" "1857" "0" "1857" "0" "c.1857G>C" "r.(?)" "p.(Pro619=)" "" "0000861497" "00025815" "10" "1875" "0" "1875" "0" "c.1875G>C" "r.(?)" "p.(Gly625=)" "" "0000861498" "00025815" "30" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Met)" "" "0000861499" "00025815" "30" "2002" "0" "2034" "0" "c.2002_2034del" "r.(?)" "p.(Ser668_Asp678del)" "" "0000861500" "00025815" "10" "2002" "0" "2034" "0" "c.2002_2034dup" "r.(?)" "p.(Ser668_Asp678dup)" "" "0000861501" "00025815" "30" "2004" "0" "2004" "0" "c.2004C>T" "r.(?)" "p.(Ser668=)" "" "0000861502" "00025815" "30" "2007" "0" "2007" "0" "c.2007C>G" "r.(?)" "p.(Gly669=)" "" "0000861503" "00025815" "30" "2016" "0" "2016" "0" "c.2016del" "r.(?)" "p.(Val673Cysfs*34)" "" "0000861504" "00025815" "30" "2021" "0" "2021" "0" "c.2021C>T" "r.(?)" "p.(Pro674Leu)" "" "0000861505" "00025815" "50" "2039" "0" "2040" "0" "c.2039_2040insC" "r.(?)" "p.(Pro681Alafs*9)" "" "0000861506" "00025815" "50" "2049" "0" "2115" "0" "c.2049_2115del" "r.(?)" "p.(Val684*)" "" "0000861507" "00025815" "30" "2055" "0" "2055" "0" "c.2055G>A" "r.(?)" "p.(Pro685=)" "" "0000861508" "00025815" "30" "2055" "0" "2055" "0" "c.2055G>C" "r.(?)" "p.(Pro685=)" "" "0000861509" "00025815" "30" "2070" "0" "2070" "0" "c.2070C>T" "r.(?)" "p.(Ser690=)" "" "0000861510" "00025815" "30" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Gly691Asp)" "" "0000861511" "00025815" "30" "2072" "0" "2137" "0" "c.2072_2137del" "r.(?)" "p.(Gly691_Ser712del)" "" "0000861512" "00025815" "30" "2074" "0" "2074" "0" "c.2074G>A" "r.(?)" "p.(Ala692Thr)" "" "0000861513" "00025815" "30" "2103" "0" "2201" "0" "c.2103_2201del" "r.(?)" "p.(Gly702_Ser734del)" "" "0000861514" "00025815" "30" "2105" "0" "2137" "0" "c.2105_2137del" "r.(?)" "p.(Gly702_Ser712del)" "" "0000861515" "00025815" "30" "2109" "0" "2109" "0" "c.2109C>T" "r.(?)" "p.(Ala703=)" "" "0000861516" "00025815" "30" "2115" "0" "2180" "0" "c.2115_2180del" "r.(?)" "p.(Thr707_Val728del)" "" "0000861517" "00025815" "30" "2116" "0" "2116" "0" "c.2116G>A" "r.(?)" "p.(Val706Met)" "" "0000861518" "00025815" "30" "2119" "0" "2151" "0" "c.2119_2151del" "r.(?)" "p.(Thr707_Val717del)" "" "0000861519" "00025815" "30" "2138" "0" "2170" "0" "c.2138_2170dup" "r.(?)" "p.(Glu713_Ser723dup)" "" "0000861520" "00025815" "10" "2142" "0" "2142" "0" "c.2142C>T" "r.(?)" "p.(Thr714=)" "" "0000861521" "00025815" "10" "2148" "0" "2148" "0" "c.2148C>T" "r.(?)" "p.(Pro716=)" "" "0000861522" "00025815" "30" "2154" "0" "2154" "0" "c.2154G>A" "r.(?)" "p.(Pro718=)" "" "0000861523" "00025815" "30" "2154" "0" "2186" "0" "c.2154_2186del" "r.(?)" "p.(Gly724_Ser734del)" "" "0000861524" "00025815" "30" "2160" "0" "2160" "0" "c.2160G>A" "r.(?)" "p.(Thr720=)" "" "0000861525" "00025815" "10" "2171" "0" "2203" "0" "c.2171_2203del" "r.(?)" "p.(Gly724_Ser734del)" "" "0000861526" "00025815" "30" "2176" "0" "2183" "0" "c.2176_2183del" "r.(?)" "p.(Pro726Alafs*5)" "" "0000861527" "00025815" "30" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Pro727Leu)" "" "0000861528" "00025815" "30" "2190" "0" "2214" "0" "c.2190_2214del" "r.(?)" "p.(Thr731Cysfs*22)" "" "0000861529" "00025815" "10" "2206" "0" "2206" "0" "c.2206G>A" "r.(?)" "p.(Ala736Thr)" "" "0000861530" "00025815" "10" "2208" "0" "2208" "0" "c.2208T>C" "r.(?)" "p.(Ala736=)" "" "0000861531" "00025815" "10" "2214" "0" "2214" "0" "c.2214T>C" "r.(?)" "p.(Pro738=)" "" "0000861532" "00025815" "10" "2220" "0" "2220" "0" "c.2220C>G" "r.(?)" "p.(Pro740=)" "" "0000861533" "00025815" "50" "2225" "0" "2226" "0" "c.2225_2226insGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCAC" "r.(?)" "p.(Thr742_Asp743insGlyAspSerGluAlaAlaProValProProThrGlyAspSerGluAlaAlaProValProProThr)" "" "0000881868" "00025815" "30" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(=)" "" "0000888685" "00025815" "30" "248" "0" "248" "0" "c.248T>C" "r.(?)" "p.(Phe83Ser)" "" "0000888686" "00025815" "30" "434" "0" "434" "0" "c.434A>T" "r.(?)" "p.(Asn145Ile)" "" "0000888687" "00025815" "30" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(Gln279Arg)" "" "0000888688" "00025815" "30" "956" "0" "956" "0" "c.956del" "r.(?)" "p.(Ile319Thrfs*18)" "" "0000888689" "00025815" "30" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Pro398Ser)" "" "0000888690" "00025815" "30" "1754" "0" "1754" "0" "c.1754T>C" "r.(?)" "p.(Val585Ala)" "" "0000888691" "00025815" "30" "1851" "0" "1851" "0" "c.1851del" "r.(?)" "p.(Val618Cysfs*89)" "" "0000888692" "00025815" "30" "2169" "0" "2201" "0" "c.2169_2201dup" "r.(?)" "p.(Gly724_Ser734dup)" "" "0000888693" "00025815" "50" "2193" "0" "2225" "0" "c.2193_2225dup" "r.(?)" "p.(Gly732_Thr742dup)" "" "0000913103" "00025815" "30" "349" "18" "349" "18" "c.349+18T>C" "r.(=)" "p.(=)" "" "0000913104" "00025815" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238*)" "" "0000913105" "00025815" "30" "1667" "0" "1667" "0" "c.1667C>T" "r.(?)" "p.(Thr556Ile)" "" "0000920729" "00025815" "90" "0" "0" "0" "0" "c.76-1042_*99{2}" "r.?" "p.?" "1i_11_" "0000924983" "00025815" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Leu174=)" "" "0000924984" "00025815" "30" "582" "0" "582" "0" "c.582T>C" "r.(?)" "p.(Ile194=)" "" "0000924985" "00025815" "30" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(Thr385=)" "" "0000924986" "00025815" "30" "1730" "0" "1730" "0" "c.1730C>T" "r.(?)" "p.(Thr577Met)" "" "0000924987" "00025815" "30" "1863" "0" "1863" "0" "c.1863G>A" "r.(?)" "p.(Thr621=)" "" "0000924988" "00025815" "50" "2187" "0" "2187" "0" "c.2187C>G" "r.(?)" "p.(Pro729=)" "" "0000929546" "00025815" "30" "1313" "0" "1313" "0" "c.1313C>T" "r.(?)" "p.(Ala438Val)" "" "0000929547" "00025815" "30" "1494" "-6" "1494" "-6" "c.1494-6C>G" "r.(=)" "p.(=)" "" "0000949212" "00025815" "50" "228" "0" "228" "0" "c.228del" "r.(?)" "p.(=)" "" "0000949213" "00025815" "30" "1374" "0" "1374" "0" "c.1374T>C" "r.(?)" "p.(=)" "" "0000949214" "00025815" "30" "1597" "0" "1597" "0" "c.1597A>G" "r.(?)" "p.(Met533Val)" "" "0000949215" "00025815" "50" "1747" "0" "1779" "0" "c.1747_1779dup" "r.(?)" "p.(Ala583_Ala593dup)" "" "0000949216" "00025815" "30" "2070" "0" "2201" "0" "c.2070_2201del" "r.(?)" "p.(Gly691_Ser734del)" "" "0000965234" "00025815" "30" "679" "-4" "679" "-4" "c.679-4G>A" "r.spl?" "p.?" "" "0000965235" "00025815" "30" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Pro478Ser)" "" "0000965236" "00025815" "50" "1785" "0" "1785" "0" "c.1785dup" "r.(?)" "p.(Val596Argfs*6)" "" "0000965237" "00025815" "50" "2100" "0" "2101" "0" "c.2100_2101insGCCGGGCCCCCCCCGTGCCGCCCACGGGTGAC" "r.(?)" "p.(Ser701Alafs*17)" "" "0000965238" "00025815" "30" "2101" "0" "2101" "0" "c.2101T>G" "r.(?)" "p.(Ser701Ala)" "" "0000965239" "00025815" "50" "2107" "0" "2107" "0" "c.2107del" "r.(?)" "p.(Ala703Profs*4)" "" "0000972045" "00025815" "50" "1785" "0" "1785" "0" "c.1785dup" "r.(?)" "p.(Thr596HisfsTer3)" "" "0000972046" "00025815" "10" "2049" "0" "2049" "0" "c.2049dup" "r.(?)" "p.(Thr684HisfsTer3)" "" "0000972047" "00025815" "10" "1983" "0" "1983" "0" "c.1983dup" "r.(?)" "p.(Thr662HisfsTer3)" "" "0000972048" "00025815" "10" "1950" "0" "1950" "0" "c.1950dup" "r.(?)" "p.(Thr651HisfsTer3)" "" "0000978467" "00025815" "50" "-5187" "0" "-5187" "0" "c.-5187C>T" "r.(?)" "p.(=)" "" "0000978468" "00025815" "50" "742" "0" "742" "0" "c.742A>G" "r.(?)" "p.(Ser248Gly)" "" "0000978469" "00025815" "30" "1337" "0" "1337" "0" "c.1337G>C" "r.(?)" "p.(Arg446Pro)" "" "0000978470" "00025815" "30" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Pro565Ser)" "" "0000978471" "00025815" "70" "1785" "0" "1785" "0" "c.1785del" "r.(?)" "p.(Val596Cysfs*111)" "" "0000978472" "00025815" "50" "1862" "0" "1862" "0" "c.1862C>T" "r.(?)" "p.(Thr621Met)" "" "0000978473" "00025815" "30" "1876" "0" "1876" "0" "c.1876G>C" "r.(?)" "p.(Ala626Pro)" "" "0000978474" "00025815" "30" "1912" "0" "1912" "0" "c.1912C>G" "r.(?)" "p.(Pro638Ala)" "" "0000978475" "00025815" "30" "1941" "0" "1941" "0" "c.1941G>C" "r.(?)" "p.(=)" "" "0000978476" "00025815" "30" "2171" "0" "2172" "0" "c.2171_2172insCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG" "r.(?)" "p.(Gly724_Ser734dup)" "" "0000997594" "00025815" "30" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Gln)" "" "0000997595" "00025815" "50" "2039" "0" "2040" "0" "c.2039_2040insC" "r.(?)" "p.(Pro681Alafs*9)" "" "0001014508" "00025815" "50" "2053" "0" "2053" "0" "c.2053C>A" "r.(?)" "p.(Pro685Thr)" "" "0001014509" "00025815" "50" "2077" "0" "2077" "0" "c.2077C>G" "r.(?)" "p.(Pro693Ala)" "" "0001014510" "00025815" "50" "2105" "0" "2137" "0" "c.2105_2137del" "r.(?)" "p.(Gly702_Ser712del)" "" "0001025605" "00025815" "30" "1910" "0" "1910" "0" "c.1910C>G" "r.(?)" "p.(Ala637Gly)" "" "0001025606" "00025815" "50" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Val662Met)" "" "0001037260" "00025815" "50" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Gly73Asp)" "" "0001037261" "00025815" "30" "787" "-13" "787" "-13" "c.787-13G>C" "r.(=)" "p.(=)" "" "0001037262" "00025815" "50" "1785" "0" "1786" "0" "c.1785_1786insT" "r.(?)" "p.(Val596Cysfs*6)" "" "0001037263" "00025815" "30" "1956" "0" "1956" "0" "c.1956G>T" "r.(?)" "p.(=)" "" "0001037264" "00025815" "30" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Val684Met)" "" "0001037265" "00025815" "30" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Gly691Ser)" "" "0001046184" "00025815" "30" "2119" "0" "2119" "0" "c.2119A>C" "r.(?)" "p.(Thr707Pro)" "" "0001053397" "00025815" "30" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(=)" "" "0001053398" "00025815" "50" "1462" "0" "1462" "0" "c.1462A>G" "r.(?)" "p.(Ile488Val)" "" "0001053399" "00025815" "50" "1709" "0" "1774" "0" "c.1709_1774del" "r.(?)" "p.(Glu570_Ser591del)" "" "0001053400" "00025815" "30" "1837" "0" "2034" "0" "c.1837_2034del" "r.(?)" "p.(Ser613_Asp678del)" "" "0001053401" "00025815" "30" "1907" "0" "1907" "0" "c.1907G>A" "r.(?)" "p.(Gly636Glu)" "" "0001053402" "00025815" "50" "1950" "0" "1950" "0" "c.1950del" "r.(?)" "p.(Val651Cysfs*56)" "" "0001060916" "00025815" "70" "2032" "0" "2032" "0" "c.2032dup" "r.(?)" "p.(Asp678GlyfsTer12)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000365093" "0000766047" "0000421236" "0000881868" "0000431705" "0000920729" "0000472348" "0001060916"