### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUBG1) # 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}}" "TUBG1" "tubulin, gamma 1" "17" "q21.31" "unknown" "NG_033886.1" "UD_132464804319" "" "https://www.LOVD.nl/TUBG1" "" "1" "12417" "7283" "191135" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TUBG1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-20 14:21:50" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022140" "TUBG1" "tubulin, gamma 1" "001" "NM_001070.4" "" "NP_001061.2" "" "" "" "-398" "1553" "1356" "40761358" "40767256" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03932" "CDCBM4" "dysplasia ,cortical, complex, with other brain malformations, type 4 (CDCBM-4)" "AD" "615412" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TUBG1" "03932" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00134040" "" "" "" "1" "" "02322" "" "" "M" "no" "" "" "0" "" "" "" "" "00134041" "" "" "" "1" "" "02322" "" "" "M" "no" "" "" "0" "" "" "" "" "00134042" "" "" "" "1" "" "02322" "" "" "F" "" "" "" "0" "" "" "" "" "00134043" "" "" "" "1" "" "02322" "" "" "F" "" "" "" "0" "" "" "" "" "00134044" "" "" "" "1" "" "02322" "" "" "F" "" "" "" "0" "" "" "" "" "00134045" "" "" "" "1" "" "02322" "" "" "M" "" "" "" "0" "" "" "" "" "00134046" "" "" "" "1" "" "02322" "" "" "M" "" "" "" "0" "" "" "" "" "00134047" "" "" "" "1" "" "02322" "" "" "F" "" "" "" "0" "" "" "" "" "00460983" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00134040" "03932" "00134041" "03932" "00134042" "03932" "00134043" "03932" "00134044" "03932" "00134045" "03932" "00134046" "03932" "00134047" "03932" "00460983" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03932 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000106789" "03932" "00134040" "02322" "Familial, autosomal dominant" "" "Pachygyria over the posterior frontal lobe and parieto-occipital cortex" "" "" "" "" "" "" "" "" "" "" "" "0000106790" "03932" "00134041" "02322" "Familial, autosomal dominant" "" "Agyria, diffuse" "" "" "" "" "" "" "" "" "" "" "" "0000106791" "03932" "00134042" "02322" "Familial, autosomal dominant" "" "Pachygyria diffuse, mild over frontal lobes, moderate posterior" "" "" "" "" "" "" "" "" "" "" "" "0000106792" "03932" "00134043" "02322" "Familial, autosomal dominant" "" "Pachygyria diffuse, cell sparse zone over occipital lobes" "" "" "" "" "" "" "" "" "" "" "" "0000106793" "03932" "00134044" "02322" "Familial, autosomal dominant" "" "Pachygyria diffuse, mild over frontal lobe and moderate over temporal and occipital lobes" "" "" "" "" "" "" "" "" "" "" "" "0000106794" "03932" "00134045" "02322" "Familial, autosomal dominant" "" "Pachygyria, diffuse, mild over frontal lobe and moderate over temporal and occipital lobes" "" "" "" "" "" "" "" "" "" "" "" "0000106795" "03932" "00134046" "02322" "Familial, autosomal dominant" "" "Pachygyria, nearly normal cortex over frontal lobes, pachygyria over perisylvian and occipital lobes" "" "" "" "" "" "" "" "" "" "" "" "0000106796" "03932" "00134047" "02322" "Familial, autosomal dominant" "" "Pachygyria diffuse, mild over frontal lobe, moderate over temporal > occipital lobes, bilateral deep" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000134879" "00134040" "1" "02322" "02322" "2017-11-20 09:38:45" "" "" "SEQ-NG" "DNA" "blood" "gene panel" "0000134880" "00134041" "1" "02322" "02322" "2017-11-20 09:46:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000134881" "00134042" "1" "02322" "02322" "2017-11-20 09:54:00" "" "" "SEQ-NG" "DNA" "" "" "0000134882" "00134043" "1" "02322" "02322" "2017-11-20 10:03:13" "" "" "SEQ-NG" "DNA" "" "" "0000134883" "00134044" "1" "02322" "02322" "2017-11-20 10:07:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000134884" "00134045" "1" "02322" "02322" "2017-11-20 10:10:46" "" "" "SEQ-NG" "DNA" "" "WES" "0000134885" "00134046" "1" "02322" "02322" "2017-11-20 10:14:04" "" "" "SEQ-NG" "DNA" "" "" "0000134886" "00134047" "1" "02322" "02322" "2017-11-20 10:17:54" "" "" "SEQ-NG" "DNA" "" "WES" "0000462615" "00460983" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000462615" "TUBG1" ## 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 = 34 "{{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}}" "0000225072" "0" "70" "17" "40762139" "40762139" "subst" "0" "02322" "TUBG1_000001" "g.40762139C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.42610121C>A" "" "likely pathogenic" "" "0000225073" "0" "70" "17" "40766419" "40766419" "subst" "0" "02322" "TUBG1_000002" "g.40766419G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42614401G>T" "" "likely pathogenic" "" "0000225074" "0" "70" "17" "40765949" "40765949" "subst" "0" "02322" "TUBG1_000003" "g.40765949C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.42613931C>T" "" "likely pathogenic" "" "0000225075" "0" "70" "17" "40765949" "40765949" "subst" "0" "02322" "TUBG1_000003" "g.40765949C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.42613931C>T" "" "likely pathogenic" "" "0000225076" "0" "70" "17" "40765949" "40765949" "subst" "0" "02322" "TUBG1_000003" "g.40765949C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42613931C>T" "" "likely pathogenic" "" "0000225077" "0" "70" "17" "40765949" "40765949" "subst" "0" "02322" "TUBG1_000003" "g.40765949C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42613931C>T" "" "likely pathogenic" "" "0000225078" "0" "70" "17" "40765942" "40765942" "subst" "0" "02322" "TUBG1_000004" "g.40765942A>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.42613924A>T" "" "likely pathogenic" "" "0000225079" "0" "70" "17" "40765949" "40765949" "subst" "0" "02322" "TUBG1_000003" "g.40765949C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.42613931C>T" "" "likely pathogenic" "" "0000255927" "0" "50" "17" "40767052" "40767052" "subst" "1.62547E-5" "01943" "TUBG1_000010" "g.40767052A>G" "" "" "" "TUBG1(NM_001070.4):c.1349A>G (p.E450G, p.(Glu450Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42615034A>G" "" "VUS" "" "0000319097" "0" "10" "17" "40766546" "40766546" "subst" "0.552624" "01943" "TUBG1_000007" "g.40766546C>G" "" "" "" "TUBG1(NM_001070.4):c.1029C>G (p.R343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42614528C>G" "" "benign" "" "0000319098" "0" "30" "17" "40766978" "40766978" "subst" "0.0015024" "01943" "TUBG1_000008" "g.40766978G>A" "" "" "" "TUBG1(NM_001070.4):c.1275G>A (p.R425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42614960G>A" "" "likely benign" "" "0000319099" "0" "30" "17" "40766999" "40766999" "subst" "2.43639E-5" "01943" "TUBG1_000009" "g.40766999C>T" "" "" "" "TUBG1(NM_001070.4):c.1296C>T (p.I432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42614981C>T" "" "likely benign" "" "0000319100" "0" "30" "17" "40764505" "40764505" "subst" "0.000142131" "01943" "TUBG1_000005" "g.40764505T>C" "" "" "" "TUBG1(NM_001070.4):c.460T>C (p.L154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42612487T>C" "" "likely benign" "" "0000319101" "0" "30" "17" "40764531" "40764531" "subst" "1.62454E-5" "01943" "TUBG1_000006" "g.40764531T>C" "" "" "" "TUBG1(NM_001070.4):c.479+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42612513T>C" "" "likely benign" "" "0000342682" "0" "50" "17" "40766539" "40766539" "subst" "0" "02327" "TUBG1_000011" "g.40766539G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42614521G>A" "" "VUS" "" "0000561531" "0" "30" "17" "40762111" "40762111" "subst" "0.00135881" "01943" "FAM134C_000001" "g.40762111G>T" "" "" "" "TUBG1(NM_001070.4):c.50-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42610093G>T" "" "likely benign" "" "0000561534" "0" "30" "17" "40766007" "40766007" "subst" "1.21936E-5" "01943" "FAM134C_000004" "g.40766007G>A" "" "" "" "TUBG1(NM_001070.4):c.834G>A (p.T278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42613989G>A" "" "likely benign" "" "0000561536" "0" "50" "17" "40766624" "40766624" "subst" "0.000244025" "01943" "FAM134C_000006" "g.40766624G>A" "" "" "" "TUBG1(NM_001070.4):c.1107G>A (p.S369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42614606G>A" "" "VUS" "" "0000561537" "0" "50" "17" "40767021" "40767021" "subst" "0.00118175" "01943" "FAM134C_000007" "g.40767021C>T" "" "" "" "TUBG1(NM_001070.4):c.1318C>T (p.R440W, p.(Arg440Trp)), TUBG1(NM_001070.5):c.1318C>T (p.R440W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42615003C>T" "" "VUS" "" "0000616558" "0" "30" "17" "40767022" "40767022" "subst" "8.12242E-6" "01943" "FAM134C_000008" "g.40767022G>A" "" "" "" "TUBG1(NM_001070.4):c.1319G>A (p.R440Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42615004G>A" "" "likely benign" "" "0000680865" "0" "30" "17" "40767014" "40767014" "subst" "0.000166518" "01943" "FAM134C_000009" "g.40767014G>A" "" "" "" "TUBG1(NM_001070.4):c.1311G>A (p.A437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692341" "0" "50" "17" "40729692" "40729692" "subst" "0.000228639" "01943" "FAM134C_000010" "g.40729692G>A" "" "" "" "PSMC3IP(NM_016556.3):c.13C>T (p.R5W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692342" "0" "50" "17" "40762123" "40762123" "subst" "8.12704E-6" "01943" "FAM134C_000011" "g.40762123C>A" "" "" "" "TUBG1(NM_001070.4):c.50-3C>A, TUBG1(NM_001070.5):c.50-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807968" "0" "30" "17" "40767021" "40767021" "subst" "0.00118175" "02325" "FAM134C_000007" "g.40767021C>T" "" "" "" "TUBG1(NM_001070.4):c.1318C>T (p.R440W, p.(Arg440Trp)), TUBG1(NM_001070.5):c.1318C>T (p.R440W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893575" "0" "50" "17" "40765072" "40765072" "subst" "4.0625E-6" "02325" "FAM134C_000012" "g.40765072C>T" "" "" "" "TUBG1(NM_001070.5):c.587C>T (p.T196M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893576" "0" "70" "17" "40765930" "40765930" "subst" "0" "02327" "FAM134C_000013" "g.40765930C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914821" "0" "50" "17" "40767031" "40767031" "subst" "0" "02329" "FAM134C_000014" "g.40767031A>G" "" "" "" "TUBG1(NM_001070.4):c.1328A>G (p.Y443C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968884" "0" "30" "17" "40762123" "40762123" "subst" "8.12704E-6" "02325" "FAM134C_000011" "g.40762123C>A" "" "" "" "TUBG1(NM_001070.4):c.50-3C>A, TUBG1(NM_001070.5):c.50-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003236" "0" "50" "17" "40765903" "40765903" "subst" "0" "01804" "FAM134C_000015" "g.40765903C>T" "" "" "" "TUBG1(NM_001070.4):c.730C>T (p.(Arg244Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003237" "0" "30" "17" "40767013" "40767013" "subst" "2.43665E-5" "01804" "FAM134C_000016" "g.40767013C>T" "" "" "" "TUBG1(NM_001070.4):c.1310C>T (p.(Ala437Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003238" "0" "30" "17" "40767021" "40767021" "subst" "0.00118175" "01804" "FAM134C_000007" "g.40767021C>T" "" "" "" "TUBG1(NM_001070.4):c.1318C>T (p.R440W, p.(Arg440Trp)), TUBG1(NM_001070.5):c.1318C>T (p.R440W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003239" "0" "50" "17" "40767052" "40767052" "subst" "1.62547E-5" "01804" "TUBG1_000010" "g.40767052A>G" "" "" "" "TUBG1(NM_001070.4):c.1349A>G (p.E450G, p.(Glu450Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022142" "0" "50" "17" "40762123" "40762123" "subst" "8.12704E-6" "04796" "FAM134C_000011" "g.40762123C>A" "" "" "" "" "no effect on RNA" "In vitro (cloned)" "" "" "0" "" "" "g.42610105C>A" "" "VUS" "" "0001041857" "0" "50" "17" "40766674" "40766674" "subst" "0" "01804" "FAM134C_000017" "g.40766674C>T" "" "" "" "TUBG1(NM_001070.5):c.1157C>T (p.(Ser386Leu))" "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 TUBG1 ## Count = 34 "{{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}}" "0000225072" "00022140" "70" "63" "0" "63" "0" "c.63C>A" "r.(?)" "p.(Phe21Leu)" "2" "0000225073" "00022140" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Asp329Tyr)" "9" "0000225074" "00022140" "70" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ser259Leu)" "8" "0000225075" "00022140" "70" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ser259Leu)" "8" "0000225076" "00022140" "70" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ser259Leu)" "8" "0000225077" "00022140" "70" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ser259Leu)" "8" "0000225078" "00022140" "70" "769" "0" "769" "0" "c.769A>T" "r.(?)" "p.(Ile257Phe)" "8" "0000225079" "00022140" "70" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ser259Leu)" "8" "0000255927" "00022140" "50" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Glu450Gly)" "" "0000319097" "00022140" "10" "1029" "0" "1029" "0" "c.1029C>G" "r.(?)" "p.(Arg343=)" "" "0000319098" "00022140" "30" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Arg425=)" "" "0000319099" "00022140" "30" "1296" "0" "1296" "0" "c.1296C>T" "r.(?)" "p.(Ile432=)" "" "0000319100" "00022140" "30" "460" "0" "460" "0" "c.460T>C" "r.(?)" "p.(Leu154=)" "" "0000319101" "00022140" "30" "479" "7" "479" "7" "c.479+7T>C" "r.(=)" "p.(=)" "" "0000342682" "00022140" "50" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341Gln)" "" "0000561531" "00022140" "30" "50" "-15" "50" "-15" "c.50-15G>T" "r.(=)" "p.(=)" "" "0000561534" "00022140" "30" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Thr278=)" "" "0000561536" "00022140" "50" "1107" "0" "1107" "0" "c.1107G>A" "r.(?)" "p.(Ser369=)" "" "0000561537" "00022140" "50" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440Trp)" "" "0000616558" "00022140" "30" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "" "0000680865" "00022140" "30" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(Ala437=)" "" "0000692341" "00022140" "50" "-32064" "0" "-32064" "0" "c.-32064G>A" "r.(?)" "p.(=)" "" "0000692342" "00022140" "50" "50" "-3" "50" "-3" "c.50-3C>A" "r.spl?" "p.?" "" "0000807968" "00022140" "30" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440Trp)" "" "0000893575" "00022140" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Thr196Met)" "" "0000893576" "00022140" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Leu253Phe)" "" "0000914821" "00022140" "50" "1328" "0" "1328" "0" "c.1328A>G" "r.(?)" "p.(Tyr443Cys)" "" "0000968884" "00022140" "30" "50" "-3" "50" "-3" "c.50-3C>A" "r.spl?" "p.?" "" "0001003236" "00022140" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Cys)" "" "0001003237" "00022140" "30" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Ala437Val)" "" "0001003238" "00022140" "30" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440Trp)" "" "0001003239" "00022140" "50" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Glu450Gly)" "" "0001022142" "00022140" "50" "50" "-3" "50" "-3" "c.50-3C>A" "r.49_50=" "p.=" "1i" "0001041857" "00022140" "50" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Ser386Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000134879" "0000225072" "0000134880" "0000225073" "0000134881" "0000225074" "0000134882" "0000225075" "0000134883" "0000225076" "0000134884" "0000225077" "0000134885" "0000225078" "0000134886" "0000225079" "0000462615" "0001022142"