### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TAF1C) # 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}}" "TAF1C" "TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa" "16" "q24" "unknown" "NC_000016.9" "UD_136021429346" "" "https://www.LOVD.nl/TAF1C" "" "1" "11534" "9013" "604905" "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/TAF1C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-28 14:47:54" "00000" "2025-11-01 13:22:20" ## 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}}" "00025516" "TAF1C" "transcript variant 1" "001" "NM_005679.3" "" "NP_005670.3" "" "" "" "-242" "3704" "2610" "84220676" "84211453" "00006" "2020-05-28 14:50:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00302579" "" "" "" "1" "" "03594" "" "" "F" "yes" "Jordan" "" "0" "" "" "" "TF108_1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00302579" "05384" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05384 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000229660" "05577" "00302579" "03594" "Familial, autosomal recessive" "" "developmental delay" "" "" "" "" "" "" "" "neurological phenotype" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000303702" "00302579" "1" "03594" "03594" "2020-05-26 11:43:11" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 87 "{{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}}" "0000253593" "0" "10" "16" "84203612" "84203612" "subst" "0.402392" "01943" "DNAAF1_000010" "g.84203612A>G" "" "" "" "DNAAF1(NM_178452.5):c.1178A>G (p.K393R), DNAAF1(NM_178452.6):c.1178A>G (p.K393R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84170006A>G" "" "benign" "" "0000255307" "0" "30" "16" "84203460" "84203460" "subst" "0.00158381" "01943" "DNAAF1_000007" "g.84203460A>T" "" "" "" "DNAAF1(NM_178452.5):c.1031-5A>T, DNAAF1(NM_178452.6):c.1031-5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84169854A>T" "" "likely benign" "" "0000267427" "0" "10" "16" "84203730" "84203730" "subst" "0.0947772" "02325" "DNAAF1_000012" "g.84203730G>C" "" "" "" "DNAAF1(NM_178452.5):c.1296G>C (p.E432D), DNAAF1(NM_178452.6):c.1296G>C (p.E432D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84170124G>C" "" "benign" "" "0000267428" "0" "50" "16" "84203848" "84203925" "del" "0" "02325" "DNAAF1_000016" "g.84203848_84203925del" "" "" "" "DNAAF1(NM_178452.6):c.1414_1491del (p.T472_E497del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84170242_84170319del" "" "VUS" "" "0000267429" "0" "10" "16" "84209634" "84209634" "subst" "0.527734" "02325" "DNAAF1_000022" "g.84209634C>G" "" "" "" "DNAAF1(NM_178452.5):c.1794C>G (p.L598=), DNAAF1(NM_178452.6):c.1794C>G (p.L598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84176028C>G" "" "benign" "" "0000268696" "0" "70" "16" "84203964" "84203964" "subst" "0" "02329" "DNAAF1_000018" "g.84203964T>C" "" "" "" "DNAAF1(NM_178452.6):c.1528+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84170358T>C" "" "likely pathogenic" "" "0000275112" "0" "10" "16" "84203511" "84203511" "subst" "0.0285258" "01943" "DNAAF1_000008" "g.84203511G>A" "" "" "" "DNAAF1(NM_178452.5):c.1077G>A (p.A359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84169905G>A" "" "benign" "" "0000275113" "0" "10" "16" "84203595" "84203595" "subst" "0.0360487" "01943" "DNAAF1_000009" "g.84203595C>G" "" "" "" "DNAAF1(NM_178452.5):c.1161C>G (p.D387E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84169989C>G" "" "benign" "" "0000275114" "0" "30" "16" "84203679" "84203679" "subst" "0.000410146" "01943" "DNAAF1_000011" "g.84203679C>G" "" "" "" "DNAAF1(NM_178452.5):c.1245C>G (p.T415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84170073C>G" "" "likely benign" "" "0000275115" "0" "10" "16" "84203730" "84203730" "subst" "0.0947772" "01943" "DNAAF1_000012" "g.84203730G>C" "" "" "" "DNAAF1(NM_178452.5):c.1296G>C (p.E432D), DNAAF1(NM_178452.6):c.1296G>C (p.E432D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84170124G>C" "" "benign" "" "0000275116" "0" "30" "16" "84203733" "84203733" "subst" "4.06263E-6" "01943" "DNAAF1_000013" "g.84203733C>A" "" "" "" "DNAAF1(NM_178452.5):c.1299C>A (p.D433E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84170127C>A" "" "likely benign" "" "0000275117" "0" "10" "16" "84203737" "84203737" "subst" "0.0249693" "01943" "DNAAF1_000014" "g.84203737G>A" "" "" "" "DNAAF1(NM_178452.5):c.1303G>A (p.D435N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84170131G>A" "" "benign" "" "0000275118" "0" "30" "16" "84203784" "84203784" "subst" "0.000101663" "01943" "DNAAF1_000015" "g.84203784G>A" "" "" "" "DNAAF1(NM_178452.5):c.1350G>A (p.P450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84170178G>A" "" "likely benign" "" "0000275119" "0" "10" "16" "84203939" "84203939" "subst" "0.343976" "01943" "DNAAF1_000017" "g.84203939C>T" "" "" "" "DNAAF1(NM_178452.5):c.1505C>T (p.P502L), DNAAF1(NM_178452.6):c.1505C>T (p.P502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84170333C>T" "" "benign" "" "0000275120" "0" "50" "16" "84208329" "84208329" "subst" "0.00041418" "01943" "DNAAF1_000019" "g.84208329G>A" "" "" "" "DNAAF1(NM_178452.5):c.1698+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84174723G>A" "" "VUS" "" "0000275121" "0" "10" "16" "84208335" "84208335" "subst" "0.337378" "01943" "DNAAF1_000020" "g.84208335G>T" "" "" "" "DNAAF1(NM_178452.5):c.1698+7G>T, DNAAF1(NM_178452.6):c.1698+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84174729G>T" "" "benign" "" "0000275122" "0" "30" "16" "84209609" "84209609" "subst" "0.00971323" "01943" "DNAAF1_000021" "g.84209609C>T" "" "" "" "DNAAF1(NM_178452.5):c.1769C>T (p.T590M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84176003C>T" "" "likely benign" "" "0000275123" "0" "10" "16" "84209634" "84209634" "subst" "0.527734" "01943" "DNAAF1_000022" "g.84209634C>G" "" "" "" "DNAAF1(NM_178452.5):c.1794C>G (p.L598=), DNAAF1(NM_178452.6):c.1794C>G (p.L598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84176028C>G" "" "benign" "" "0000275124" "0" "10" "16" "84209688" "84209688" "subst" "0.0123901" "01943" "DNAAF1_000023" "g.84209688G>A" "" "" "" "DNAAF1(NM_178452.5):c.1848G>A (p.A616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84176082G>A" "" "benign" "" "0000275125" "0" "10" "16" "84209738" "84209738" "subst" "0.345588" "01943" "DNAAF1_000024" "g.84209738T>C" "" "" "" "DNAAF1(NM_178452.5):c.1898T>C (p.L633S), DNAAF1(NM_178452.6):c.1898T>C (p.L633S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84176132T>C" "" "benign" "" "0000275126" "0" "10" "16" "84209815" "84209815" "subst" "0.199812" "01943" "DNAAF1_000025" "g.84209815C>G" "" "" "" "DNAAF1(NM_178452.5):c.1975C>G (p.L659V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84176209C>G" "" "benign" "" "0000275127" "0" "10" "16" "84209816" "84209816" "subst" "0.345081" "01943" "DNAAF1_000026" "g.84209816T>C" "" "" "" "DNAAF1(NM_178452.5):c.1976T>C (p.L659P), DNAAF1(NM_178452.6):c.1976T>C (p.L659P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84176210T>C" "" "benign" "" "0000275128" "0" "10" "16" "84209864" "84209864" "subst" "0.345652" "01943" "DNAAF1_000027" "g.84209864G>C" "" "" "" "DNAAF1(NM_178452.5):c.2024G>C (p.S675T), DNAAF1(NM_178452.6):c.2024G>C (p.S675T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84176258G>C" "" "benign" "" "0000275129" "0" "10" "16" "84183964" "84183964" "subst" "0.0133571" "01943" "DNAAF1_000002" "g.84183964G>C" "" "" "" "DNAAF1(NM_178452.5):c.352+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84150359G>C" "" "benign" "" "0000275130" "0" "50" "16" "84188224" "84188224" "subst" "4.06085E-6" "01943" "DNAAF1_000003" "g.84188224G>A" "" "" "" "DNAAF1(NM_178452.5):c.395G>A (p.R132H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84154619G>A" "" "VUS" "" "0000275131" "0" "30" "16" "84193318" "84193318" "subst" "0.00291732" "01943" "DNAAF1_000004" "g.84193318G>C" "" "" "" "DNAAF1(NM_178452.5):c.780G>C (p.Q260H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84159713G>C" "" "likely benign" "" "0000275132" "0" "30" "16" "84199444" "84199444" "subst" "0.0208274" "01943" "DNAAF1_000005" "g.84199444C>G" "" "" "" "DNAAF1(NM_178452.5):c.919C>G (p.Q307E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84165838C>G" "" "likely benign" "" "0000275133" "0" "30" "16" "84199513" "84199513" "subst" "0.0208349" "01943" "DNAAF1_000006" "g.84199513C>A" "" "" "" "DNAAF1(NM_178452.5):c.988C>A (p.R330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84165907C>A" "" "likely benign" "" "0000324949" "0" "50" "16" "84213242" "84213254" "del" "0" "01804" "TAF1C_000002" "g.84213242_84213254del" "" "" "" "TAF1C(NM_001243156.1):c.1830_1842del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84179636_84179648del" "" "VUS" "" "0000324951" "0" "50" "16" "84214766" "84214766" "subst" "0.000284564" "01804" "TAF1C_000004" "g.84214766A>G" "" "" "" "TAF1C(NM_001243156.1):c.1191T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84181160A>G" "" "VUS" "" "0000559369" "0" "50" "16" "84193303" "84193303" "subst" "3.25693E-5" "01943" "DNAAF1_000029" "g.84193303C>G" "" "" "" "DNAAF1(NM_178452.5):c.765C>G (p.N255K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84159698C>G" "" "VUS" "" "0000559370" "0" "90" "16" "84203964" "84203964" "subst" "0" "02327" "DNAAF1_000018" "g.84203964T>C" "" "" "" "DNAAF1(NM_178452.6):c.1528+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84170358T>C" "" "pathogenic" "" "0000559371" "0" "30" "16" "84205904" "84205904" "subst" "0.000418298" "01943" "DNAAF1_000030" "g.84205904G>A" "" "" "" "DNAAF1(NM_178452.5):c.1567G>A (p.V523I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84172298G>A" "" "likely benign" "" "0000559372" "0" "10" "16" "84211378" "84211378" "subst" "0.00115333" "01943" "DNAAF1_000031" "g.84211378A>G" "" "" "" "DNAAF1(NM_178452.5):c.2109A>G (p.G703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84177772A>G" "" "benign" "" "0000559373" "0" "10" "16" "84211403" "84211403" "subst" "0.00170962" "01943" "DNAAF1_000032" "g.84211403C>G" "" "" "" "DNAAF1(NM_178452.5):c.2134C>G (p.P712A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84177797C>G" "" "benign" "" "0000559374" "0" "10" "16" "84211465" "84211465" "subst" "0.0338755" "01943" "DNAAF1_000033" "g.84211465T>C" "" "" "" "DNAAF1(NM_178452.5):c.*18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84177859T>C" "" "benign" "" "0000559375" "0" "30" "16" "84213316" "84213316" "subst" "0.000572058" "01943" "DNAAF1_000034" "g.84213316G>A" "" "" "" "TAF1C(NM_005679.3):c.1841C>T (p.P614L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84179710G>A" "" "likely benign" "" "0000559376" "0" "30" "16" "84213358" "84213358" "subst" "3.03967E-5" "01943" "DNAAF1_000035" "g.84213358C>T" "" "" "" "TAF1C(NM_005679.3):c.1799G>A (p.R600H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84179752C>T" "" "likely benign" "" "0000559377" "0" "50" "16" "84213845" "84213845" "subst" "0" "01943" "DNAAF1_000036" "g.84213845G>A" "" "" "" "TAF1C(NM_005679.3):c.1492C>T (p.R498W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84180239G>A" "" "VUS" "" "0000559378" "0" "50" "16" "84214785" "84214785" "subst" "0.000101998" "01943" "DNAAF1_000037" "g.84214785G>A" "" "" "" "TAF1C(NM_005679.3):c.1250C>T (p.P417L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84181179G>A" "" "VUS" "" "0000559379" "0" "50" "16" "84214963" "84214963" "subst" "8.15954E-6" "01943" "DNAAF1_000038" "g.84214963G>C" "" "" "" "TAF1C(NM_005679.3):c.1213C>G (p.R405G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84181357G>C" "" "VUS" "" "0000616173" "0" "50" "16" "84188375" "84188375" "subst" "0.00135636" "02325" "DNAAF1_000039" "g.84188375C>G" "" "" "" "DNAAF1(NM_178452.5):c.546C>G (p.N182K), DNAAF1(NM_178452.6):c.546C>G (p.N182K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84154770C>G" "" "VUS" "" "0000616174" "0" "30" "16" "84203460" "84203460" "subst" "0.00158381" "02325" "DNAAF1_000007" "g.84203460A>T" "" "" "" "DNAAF1(NM_178452.5):c.1031-5A>T, DNAAF1(NM_178452.6):c.1031-5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84169854A>T" "" "likely benign" "" "0000616175" "0" "50" "16" "84211407" "84211407" "subst" "1.21827E-5" "02325" "DNAAF1_000040" "g.84211407C>T" "" "" "" "DNAAF1(NM_178452.6):c.2138C>T (p.T713M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84177801C>T" "" "VUS" "" "0000657949" "0" "50" "16" "84188375" "84188375" "subst" "0.00135636" "01943" "DNAAF1_000039" "g.84188375C>G" "" "" "" "DNAAF1(NM_178452.5):c.546C>G (p.N182K), DNAAF1(NM_178452.6):c.546C>G (p.N182K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84154770C>G" "" "VUS" "" "0000657950" "0" "90" "16" "84203896" "84203896" "subst" "1.22379E-5" "02327" "DNAAF1_000044" "g.84203896C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84170290C>T" "" "pathogenic" "" "0000667111" "3" "70" "16" "84213845" "84213845" "subst" "0" "03594" "DNAAF1_000036" "g.84213845G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.84180239G>A" "" "likely pathogenic (recessive)" "" "0000680680" "0" "50" "16" "84182726" "84182726" "subst" "0" "01943" "DNAAF1_000045" "g.84182726A>G" "" "" "" "DNAAF1(NM_178452.5):c.239A>G (p.D80G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680681" "0" "30" "16" "84193280" "84193280" "subst" "2.9064E-5" "01943" "DNAAF1_000046" "g.84193280C>A" "" "" "" "DNAAF1(NM_178452.5):c.742C>A (p.R248S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680682" "0" "30" "16" "84193281" "84193281" "subst" "3.72476E-5" "01943" "DNAAF1_000047" "g.84193281G>A" "" "" "" "DNAAF1(NM_178452.5):c.743G>A (p.R248H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692163" "0" "50" "16" "84203788" "84203788" "subst" "0.000776429" "01943" "DNAAF1_000048" "g.84203788C>A" "" "" "" "DNAAF1(NM_178452.5):c.1354C>A (p.P452T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692164" "0" "30" "16" "84209793" "84209793" "subst" "9.34701E-5" "01943" "DNAAF1_000049" "g.84209793C>T" "" "" "" "DNAAF1(NM_178452.5):c.1953C>T (p.S651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692165" "0" "30" "16" "84211399" "84211399" "subst" "4.06085E-6" "01943" "DNAAF1_000050" "g.84211399T>C" "" "" "" "DNAAF1(NM_178452.5):c.2130T>C (p.A710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726001" "0" "50" "16" "84183853" "84183853" "subst" "0" "02325" "DNAAF1_000051" "g.84183853C>G" "" "" "" "DNAAF1(NM_178452.6):c.261-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726002" "0" "30" "16" "84199566" "84199566" "subst" "0" "01943" "DNAAF1_000052" "g.84199566G>T" "" "" "" "DNAAF1(NM_001318756.1):c.285G>T (p.S95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726003" "0" "50" "16" "84203606" "84203606" "subst" "0.000113711" "01943" "DNAAF1_000053" "g.84203606C>T" "" "" "" "DNAAF1(NM_178452.5):c.1172C>T (p.P391L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726004" "0" "30" "16" "84208294" "84208294" "subst" "0.00173386" "02325" "DNAAF1_000054" "g.84208294A>T" "" "" "" "DNAAF1(NM_178452.6):c.1664A>T (p.D555V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726005" "0" "50" "16" "84209558" "84209558" "subst" "0.000580687" "01943" "DNAAF1_000055" "g.84209558T>C" "" "" "" "DNAAF1(NM_178452.5):c.1718T>C (p.I573T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854664" "0" "50" "16" "84205949" "84205949" "subst" "0" "01943" "DNAAF1_000056" "g.84205949A>G" "" "" "" "DNAAF1(NM_178452.5):c.1612A>G (p.R538G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864955" "0" "10" "16" "84203612" "84203612" "subst" "0.402392" "02327" "DNAAF1_000010" "g.84203612A>G" "" "" "" "DNAAF1(NM_178452.5):c.1178A>G (p.K393R), DNAAF1(NM_178452.6):c.1178A>G (p.K393R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864956" "0" "10" "16" "84203730" "84203730" "subst" "0.0947772" "02327" "DNAAF1_000012" "g.84203730G>C" "" "" "" "DNAAF1(NM_178452.5):c.1296G>C (p.E432D), DNAAF1(NM_178452.6):c.1296G>C (p.E432D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864957" "0" "10" "16" "84203939" "84203939" "subst" "0.343976" "02327" "DNAAF1_000017" "g.84203939C>T" "" "" "" "DNAAF1(NM_178452.5):c.1505C>T (p.P502L), DNAAF1(NM_178452.6):c.1505C>T (p.P502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893202" "0" "50" "16" "84189227" "84189227" "subst" "8.12117E-6" "02329" "DNAAF1_000057" "g.84189227A>G" "" "" "" "DNAAF1(NM_178452.6):c.614A>G (p.N205S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914698" "0" "30" "16" "84212875" "84212875" "subst" "0.00161261" "02325" "DNAAF1_000058" "g.84212875G>A" "" "" "" "TAF1C(NM_005679.4):c.2282C>T (p.S761L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926356" "0" "50" "16" "84193329" "84193329" "subst" "0" "02325" "DNAAF1_000059" "g.84193329A>G" "" "" "" "DNAAF1(NM_178452.6):c.791A>G (p.Y264C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950745" "0" "50" "16" "84216015" "84216015" "subst" "0.000202807" "02325" "DNAAF1_000060" "g.84216015G>A" "" "" "" "TAF1C(NM_001243156.1):c.514C>T (p.(Arg172Cys)), TAF1C(NM_005679.4):c.514C>T (p.R172C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968543" "0" "90" "16" "84193349" "84193349" "subst" "1.62458E-5" "02329" "DNAAF1_000061" "g.84193349C>T" "" "" "" "DNAAF1(NM_178452.6):c.811C>T (p.R271*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982114" "0" "10" "16" "84203612" "84203612" "subst" "0.402392" "02325" "DNAAF1_000010" "g.84203612A>G" "" "" "" "DNAAF1(NM_178452.5):c.1178A>G (p.K393R), DNAAF1(NM_178452.6):c.1178A>G (p.K393R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982115" "0" "10" "16" "84203939" "84203939" "subst" "0.343976" "02325" "DNAAF1_000017" "g.84203939C>T" "" "" "" "DNAAF1(NM_178452.5):c.1505C>T (p.P502L), DNAAF1(NM_178452.6):c.1505C>T (p.P502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982116" "0" "10" "16" "84208335" "84208335" "subst" "0.337378" "02325" "DNAAF1_000020" "g.84208335G>T" "" "" "" "DNAAF1(NM_178452.5):c.1698+7G>T, DNAAF1(NM_178452.6):c.1698+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982117" "0" "10" "16" "84209498" "84209498" "subst" "0.345002" "02325" "DNAAF1_000062" "g.84209498T>C" "" "" "" "DNAAF1(NM_178452.6):c.1699-41T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982118" "0" "10" "16" "84209738" "84209738" "subst" "0.345588" "02325" "DNAAF1_000024" "g.84209738T>C" "" "" "" "DNAAF1(NM_178452.5):c.1898T>C (p.L633S), DNAAF1(NM_178452.6):c.1898T>C (p.L633S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982119" "0" "10" "16" "84209816" "84209816" "subst" "0.345081" "02325" "DNAAF1_000026" "g.84209816T>C" "" "" "" "DNAAF1(NM_178452.5):c.1976T>C (p.L659P), DNAAF1(NM_178452.6):c.1976T>C (p.L659P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982120" "0" "10" "16" "84209864" "84209864" "subst" "0.345652" "02325" "DNAAF1_000027" "g.84209864G>C" "" "" "" "DNAAF1(NM_178452.5):c.2024G>C (p.S675T), DNAAF1(NM_178452.6):c.2024G>C (p.S675T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982121" "0" "10" "16" "84211483" "84211483" "subst" "0.511852" "02325" "DNAAF1_000063" "g.84211483C>T" "" "" "" "DNAAF1(NM_178452.6):c.*36C>T, TAF1C(NM_005679.4):c.*1064G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982122" "0" "50" "16" "84224967" "84224986" "del" "0" "01804" "ADAD2_000002" "g.84224967_84224986del" "" "" "" "ADAD2(NM_001145400.2):c.131_150del (p.(Gly44Aspfs*113))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982123" "0" "50" "16" "84224988" "84225009" "del" "0" "01804" "ADAD2_000003" "g.84224988_84225009del" "" "" "" "ADAD2(NM_001145400.2):c.152_173del (p.(Thr51Serfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002621" "0" "50" "16" "84213658" "84213658" "dup" "0" "01804" "DNAAF1_000064" "g.84213658dup" "" "" "" "TAF1C(NM_001243156.1):c.1522dupC (p.(Gln508fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002622" "0" "50" "16" "84213952" "84213952" "subst" "1.49325E-5" "01804" "DNAAF1_000065" "g.84213952T>C" "" "" "" "TAF1C(NM_001243156.1):c.1309-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002623" "0" "50" "16" "84216015" "84216015" "subst" "0.000202807" "01804" "DNAAF1_000060" "g.84216015G>A" "" "" "" "TAF1C(NM_001243156.1):c.514C>T (p.(Arg172Cys)), TAF1C(NM_005679.4):c.514C>T (p.R172C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002624" "0" "50" "16" "84218482" "84218482" "subst" "0" "01804" "DNAAF1_000066" "g.84218482G>A" "" "" "" "TAF1C(NM_001243156.1):c.113C>T (p.(Pro38Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026764" "0" "50" "16" "84215439" "84215439" "subst" "0" "02325" "DNAAF1_000067" "g.84215439C>G" "" "" "" "TAF1C(NM_005679.4):c.947G>C (p.C316S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026765" "0" "50" "16" "84215475" "84215475" "subst" "0.00248132" "02325" "DNAAF1_000068" "g.84215475G>A" "" "" "" "TAF1C(NM_005679.4):c.911C>T (p.S304F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041392" "0" "30" "16" "84182715" "84182715" "subst" "0.0197146" "01804" "DNAAF1_000072" "g.84182715C>T" "" "" "" "DNAAF1(NM_178452.6):c.228C>T (p.(His76=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041394" "0" "50" "16" "84215889" "84215889" "subst" "8.21767E-6" "01804" "DNAAF1_000073" "g.84215889C>T" "" "" "" "TAF1C(NM_001243156.2):c.640G>A (p.(Gly214Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055692" "0" "50" "16" "84188352" "84188352" "subst" "3.24863E-5" "01804" "DNAAF1_000074" "g.84188352C>G" "" "" "" "DNAAF1(NM_178452.6):c.523C>G (p.(Leu175Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055693" "0" "50" "16" "84215885" "84215885" "subst" "0.00044417" "01804" "DNAAF1_000075" "g.84215885G>A" "" "" "" "TAF1C(NM_001243156.2):c.644C>T (p.(Ala215Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TAF1C ## Count = 87 "{{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}}" "0000253593" "00025516" "10" "11545" "0" "11545" "0" "c.*8935T>C" "r.(=)" "p.(=)" "" "0000255307" "00025516" "30" "11697" "0" "11697" "0" "c.*9087T>A" "r.(=)" "p.(=)" "" "0000267427" "00025516" "10" "11427" "0" "11427" "0" "c.*8817C>G" "r.(=)" "p.(=)" "" "0000267428" "00025516" "50" "11260" "0" "11337" "0" "c.*8650_*8727del" "r.(=)" "p.(=)" "" "0000267429" "00025516" "10" "5523" "0" "5523" "0" "c.*2913G>C" "r.(=)" "p.(=)" "" "0000268696" "00025516" "70" "11193" "0" "11193" "0" "c.*8583A>G" "r.(=)" "p.(=)" "" "0000275112" "00025516" "10" "11646" "0" "11646" "0" "c.*9036C>T" "r.(=)" "p.(=)" "" "0000275113" "00025516" "10" "11562" "0" "11562" "0" "c.*8952G>C" "r.(=)" "p.(=)" "" "0000275114" "00025516" "30" "11478" "0" "11478" "0" "c.*8868G>C" "r.(=)" "p.(=)" "" "0000275115" "00025516" "10" "11427" "0" "11427" "0" "c.*8817C>G" "r.(=)" "p.(=)" "" "0000275116" "00025516" "30" "11424" "0" "11424" "0" "c.*8814G>T" "r.(=)" "p.(=)" "" "0000275117" "00025516" "10" "11420" "0" "11420" "0" "c.*8810C>T" "r.(=)" "p.(=)" "" "0000275118" "00025516" "30" "11373" "0" "11373" "0" "c.*8763C>T" "r.(=)" "p.(=)" "" "0000275119" "00025516" "10" "11218" "0" "11218" "0" "c.*8608G>A" "r.(=)" "p.(=)" "" "0000275120" "00025516" "50" "6828" "0" "6828" "0" "c.*4218C>T" "r.(=)" "p.(=)" "" "0000275121" "00025516" "10" "6822" "0" "6822" "0" "c.*4212C>A" "r.(=)" "p.(=)" "" "0000275122" "00025516" "30" "5548" "0" "5548" "0" "c.*2938G>A" "r.(=)" "p.(=)" "" "0000275123" "00025516" "10" "5523" "0" "5523" "0" "c.*2913G>C" "r.(=)" "p.(=)" "" "0000275124" "00025516" "10" "5469" "0" "5469" "0" "c.*2859C>T" "r.(=)" "p.(=)" "" "0000275125" "00025516" "10" "5419" "0" "5419" "0" "c.*2809A>G" "r.(=)" "p.(=)" "" "0000275126" "00025516" "10" "5342" "0" "5342" "0" "c.*2732G>C" "r.(=)" "p.(=)" "" "0000275127" "00025516" "10" "5341" "0" "5341" "0" "c.*2731A>G" "r.(=)" "p.(=)" "" "0000275128" "00025516" "10" "5293" "0" "5293" "0" "c.*2683C>G" "r.(=)" "p.(=)" "" "0000275129" "00025516" "10" "31193" "0" "31193" "0" "c.*28583C>G" "r.(=)" "p.(=)" "" "0000275130" "00025516" "50" "26933" "0" "26933" "0" "c.*24323C>T" "r.(=)" "p.(=)" "" "0000275131" "00025516" "30" "21839" "0" "21839" "0" "c.*19229C>G" "r.(=)" "p.(=)" "" "0000275132" "00025516" "30" "15713" "0" "15713" "0" "c.*13103G>C" "r.(=)" "p.(=)" "" "0000275133" "00025516" "30" "15644" "0" "15644" "0" "c.*13034G>T" "r.(=)" "p.(=)" "" "0000324949" "00025516" "50" "1908" "0" "1920" "0" "c.1908_1920del" "r.(?)" "p.(Cys636Ter)" "" "0000324951" "00025516" "50" "1269" "0" "1269" "0" "c.1269T>C" "r.(?)" "p.(Leu423=)" "" "0000559369" "00025516" "50" "21854" "0" "21854" "0" "c.*19244G>C" "r.(=)" "p.(=)" "" "0000559370" "00025516" "90" "11193" "0" "11193" "0" "c.*8583A>G" "r.(=)" "p.(=)" "" "0000559371" "00025516" "30" "9253" "0" "9253" "0" "c.*6643C>T" "r.(=)" "p.(=)" "" "0000559372" "00025516" "10" "3779" "0" "3779" "0" "c.*1169T>C" "r.(=)" "p.(=)" "" "0000559373" "00025516" "10" "3754" "0" "3754" "0" "c.*1144G>C" "r.(=)" "p.(=)" "" "0000559374" "00025516" "10" "3692" "0" "3692" "0" "c.*1082A>G" "r.(=)" "p.(=)" "" "0000559375" "00025516" "30" "1841" "0" "1841" "0" "c.1841C>T" "r.(?)" "p.(Pro614Leu)" "" "0000559376" "00025516" "30" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Arg600His)" "" "0000559377" "00025516" "50" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Trp)" "" "0000559378" "00025516" "50" "1250" "0" "1250" "0" "c.1250C>T" "r.(?)" "p.(Pro417Leu)" "" "0000559379" "00025516" "50" "1213" "0" "1213" "0" "c.1213C>G" "r.(?)" "p.(Arg405Gly)" "" "0000616173" "00025516" "50" "26782" "0" "26782" "0" "c.*24172G>C" "r.(=)" "p.(=)" "" "0000616174" "00025516" "30" "11697" "0" "11697" "0" "c.*9087T>A" "r.(=)" "p.(=)" "" "0000616175" "00025516" "50" "3750" "0" "3750" "0" "c.*1140G>A" "r.(=)" "p.(=)" "" "0000657949" "00025516" "50" "26782" "0" "26782" "0" "c.*24172G>C" "r.(=)" "p.(=)" "" "0000657950" "00025516" "90" "11261" "0" "11261" "0" "c.*8651G>A" "r.(=)" "p.(=)" "" "0000667111" "00025516" "70" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Trp)" "" "0000680680" "00025516" "50" "32431" "0" "32431" "0" "c.*29821T>C" "r.(=)" "p.(=)" "" "0000680681" "00025516" "30" "21877" "0" "21877" "0" "c.*19267G>T" "r.(=)" "p.(=)" "" "0000680682" "00025516" "30" "21876" "0" "21876" "0" "c.*19266C>T" "r.(=)" "p.(=)" "" "0000692163" "00025516" "50" "11369" "0" "11369" "0" "c.*8759G>T" "r.(=)" "p.(=)" "" "0000692164" "00025516" "30" "5364" "0" "5364" "0" "c.*2754G>A" "r.(=)" "p.(=)" "" "0000692165" "00025516" "30" "3758" "0" "3758" "0" "c.*1148A>G" "r.(=)" "p.(=)" "" "0000726001" "00025516" "50" "31304" "0" "31304" "0" "c.*28694G>C" "r.(=)" "p.(=)" "" "0000726002" "00025516" "30" "15591" "0" "15591" "0" "c.*12981C>A" "r.(=)" "p.(=)" "" "0000726003" "00025516" "50" "11551" "0" "11551" "0" "c.*8941G>A" "r.(=)" "p.(=)" "" "0000726004" "00025516" "30" "6863" "0" "6863" "0" "c.*4253T>A" "r.(=)" "p.(=)" "" "0000726005" "00025516" "50" "5599" "0" "5599" "0" "c.*2989A>G" "r.(=)" "p.(=)" "" "0000854664" "00025516" "50" "9208" "0" "9208" "0" "c.*6598T>C" "r.(=)" "p.(=)" "" "0000864955" "00025516" "10" "11545" "0" "11545" "0" "c.*8935T>C" "r.(=)" "p.(=)" "" "0000864956" "00025516" "10" "11427" "0" "11427" "0" "c.*8817C>G" "r.(=)" "p.(=)" "" "0000864957" "00025516" "10" "11218" "0" "11218" "0" "c.*8608G>A" "r.(=)" "p.(=)" "" "0000893202" "00025516" "50" "25930" "0" "25930" "0" "c.*23320T>C" "r.(=)" "p.(=)" "" "0000914698" "00025516" "30" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ser761Leu)" "" "0000926356" "00025516" "50" "21828" "0" "21828" "0" "c.*19218T>C" "r.(=)" "p.(=)" "" "0000950745" "00025516" "50" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Cys)" "" "0000968543" "00025516" "90" "21808" "0" "21808" "0" "c.*19198G>A" "r.(=)" "p.(=)" "" "0000982114" "00025516" "10" "11545" "0" "11545" "0" "c.*8935T>C" "r.(=)" "p.(=)" "" "0000982115" "00025516" "10" "11218" "0" "11218" "0" "c.*8608G>A" "r.(=)" "p.(=)" "" "0000982116" "00025516" "10" "6822" "0" "6822" "0" "c.*4212C>A" "r.(=)" "p.(=)" "" "0000982117" "00025516" "10" "5659" "0" "5659" "0" "c.*3049A>G" "r.(=)" "p.(=)" "" "0000982118" "00025516" "10" "5419" "0" "5419" "0" "c.*2809A>G" "r.(=)" "p.(=)" "" "0000982119" "00025516" "10" "5341" "0" "5341" "0" "c.*2731A>G" "r.(=)" "p.(=)" "" "0000982120" "00025516" "10" "5293" "0" "5293" "0" "c.*2683C>G" "r.(=)" "p.(=)" "" "0000982121" "00025516" "10" "3674" "0" "3674" "0" "c.*1064G>A" "r.(=)" "p.(=)" "" "0000982122" "00025516" "50" "-4551" "0" "-4532" "0" "c.-4551_-4532del" "r.(?)" "p.(=)" "" "0000982123" "00025516" "50" "-4575" "0" "-4554" "0" "c.-4575_-4554del" "r.(?)" "p.(=)" "" "0001002621" "00025516" "50" "1600" "0" "1600" "0" "c.1600dup" "r.(?)" "p.(Gln534Profs*19)" "" "0001002622" "00025516" "50" "1387" "-2" "1387" "-2" "c.1387-2A>G" "r.spl?" "p.?" "" "0001002623" "00025516" "50" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Cys)" "" "0001002624" "00025516" "50" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Pro38Leu)" "" "0001026764" "00025516" "50" "947" "0" "947" "0" "c.947G>C" "r.(?)" "p.(Cys316Ser)" "" "0001026765" "00025516" "50" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Ser304Phe)" "" "0001041392" "00025516" "30" "32442" "0" "32442" "0" "c.*29832G>A" "r.(=)" "p.(=)" "" "0001041394" "00025516" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Gly214Ser)" "" "0001055692" "00025516" "50" "26805" "0" "26805" "0" "c.*24195G>C" "r.(=)" "p.(=)" "" "0001055693" "00025516" "50" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ala215Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000303702" "0000667111"