### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBCD) # 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}}" "TBCD" "tubulin folding cofactor D" "17" "q25.3" "unknown" "NG_011721.1" "UD_132118648828" "" "https://www.LOVD.nl/TBCD" "" "1" "11581" "6904" "604649" "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/TBCD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-28 21:29:26" "00006" "2025-12-04 10:36:49" ## 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}}" "00020835" "TBCD" "tubulin folding cofactor D" "001" "NM_005993.4" "" "NP_005984.3" "" "" "" "-130" "4302" "3579" "80709940" "80901062" "" "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" "05425" "PEBAT" "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT)" "AR" "617193" "" "autosomal recessive" "" "00006" "2018-05-04 16:06:21" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TBCD" "05425" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00143186" "" "" "" "1" "" "" "" "" "M" "yes" "(India)" "" "0" "" "" "Asian" "" "00143188" "" "" "" "1" "" "01581" "" "" "M" "yes" "(India)" "" "0" "" "" "Asian" "" "00163916" "" "" "" "1" "" "02457" "" "" "F" "?" "Faroe Islands" "01y08m" "0" "No" "No" "Faroese" "P1" "00164375" "" "" "" "1" "" "02457" "" "" "?" "" "Argentina" "04y08m" "0" "" "" "" "P2" "00164376" "" "" "" "6" "" "02457" "" "" "M" "" "Faroe Islands" "02y03m" "0" "" "" "" "P3" "00164436" "" "" "" "1" "" "02457" "" "" "" "" "Faroe Islands" "01y10m" "0" "" "" "" "P4" "00164437" "" "" "" "1" "" "02457" "" "" "" "" "Faroe Islands" "03y09m" "0" "" "" "" "P5" "00164438" "" "" "" "1" "" "02457" "" "" "" "" "" "00y10m" "0" "" "" "" "P6" "00164439" "" "" "" "1" "" "02457" "" "" "" "" "Faroe Islands" "" "0" "" "" "" "P7" "00164440" "" "" "" "1" "" "02457" "" "" "" "" "" "03y02m" "0" "" "" "" "P8" "00379729" "" "" "" "2" "" "04137" "" "two affected siblings to consanguineous parents." "M" "yes" "Saudi Arabia" "" "" "" "" "Arabs" "" "00467637" "" "" "" "1" "" "00006" "{PMID:Elmas 2019:30426380}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "likely" "Turkey" "" "0" "" "" "" "Pat21" "00470621" "" "" "" "1" "" "00006" "{PMID:Wai 2020:32123317}" "studied effect of variant on RNA" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat250" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00143186" "00198" "00143188" "00198" "00163916" "05425" "00164375" "05425" "00164376" "05425" "00164436" "05425" "00164437" "05425" "00164438" "05425" "00164439" "05425" "00164440" "05425" "00379729" "05425" "00467637" "00198" "00470621" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05425 ## Count = 12 "{{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}}" "0000115936" "00198" "00143186" "" "Unknown" "" "microcephaly (HP:0000252), cortical atrophy (HP:?), hypofibrinogenemia (HP:0011900)" "" "" "" "" "" "" "" "" "" "" "" "0000115937" "00198" "00143188" "01581" "Unknown" "" "microcephaly (HP:0000252), cortical atrophy (HP:?), hypofibrinogenemia (HP:0011900)" "" "" "" "" "" "" "" "" "" "" "" "0000129102" "05425" "00163916" "02457" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129497" "05425" "00164440" "02457" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129498" "05425" "00164439" "02457" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129499" "05425" "00164438" "02457" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129500" "05425" "00164436" "02457" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129565" "05425" "00164375" "02457" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PEBAT" "" "" "0000129566" "05425" "00164437" "02457" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PEBAT" "" "" "0000129567" "05425" "00164376" "02457" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PEBAT" "" "" "0000273583" "05425" "00379729" "04137" "Familial, autosomal recessive" "05y" "Both siblings have lower extremities weakness (proximal to distal) with distal muscle wasting and foot equinovarus deformities. The younger sibling has focal epilepsy. Bith have thin corpus callosum on brain MRI and their NCS/EMG is in keeping with the neuronopathic process" "01y" "07y" "" "" "" "" "" "" "Early onset encephalopathy with brain atrophy and thin corpus callosum" "Early onset encephalopathy" "" "0000352849" "00198" "00467637" "00006" "Familial, autosomal recessive" "6y7m" "see paper; ..., fetal hyperkinesia; neuromotor developmental delay, severe learning disability, spastic tetraplegia, arthrogryposis, walking disability, speech disability, seizure; MRI bifrontotemporal atrophy, dilated bilateral ventricles and third ventricular, periventricular hyperintensity, thin corpus callosum; no cardiac anomalies" "5m" "" "" "" "" "" "" "" "PEBAT" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000144043" "00143186" "1" "" "" "2017-11-28 17:36:04" "" "" "SEQ-NG" "DNA" "" "Whole exome sequencing" "0000144045" "00143188" "1" "01581" "01581" "2017-11-28 17:36:04" "" "" "SEQ-NG" "DNA" "" "Whole exome sequencing" "0000164780" "00163916" "1" "02457" "02457" "2018-04-23 10:05:31" "" "" "SEQ-NG-IT" "DNA" "" "" "0000165242" "00164375" "1" "02457" "02457" "2018-05-16 22:28:57" "" "" "SEQ" "DNA" "" "" "0000165243" "00164376" "1" "02457" "02457" "2018-05-16 22:43:29" "" "" "SEQ" "DNA" "" "" "0000165303" "00164436" "1" "02457" "02457" "2018-05-17 22:15:05" "" "" "SEQ" "DNA" "" "" "0000165304" "00164437" "1" "02457" "02457" "2018-05-17 22:21:07" "" "" "SEQ" "DNA" "" "" "0000165305" "00164438" "1" "02457" "02457" "2018-05-17 22:25:02" "" "" "SEQ" "DNA" "" "" "0000165306" "00164439" "1" "02457" "02457" "2018-05-17 22:39:44" "" "" "SEQ" "DNA" "" "" "0000165307" "00164440" "1" "02457" "02457" "2018-05-17 22:44:49" "" "" "SEQ" "DNA" "" "" "0000380931" "00379729" "1" "04137" "04137" "2021-08-07 10:06:49" "" "" "SEQ-NG" "DNA" "" "" "0000469302" "00467637" "1" "00006" "00006" "2025-10-24 22:46:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472288" "00470621" "1" "00006" "00006" "2025-12-04 10:36:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000165303" "TBCD" "0000165304" "TBCD" "0000165305" "TBCD" "0000165306" "TBCD" "0000165307" "TBCD" "0000472288" "TBCD" ## 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 = 81 "{{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}}" "0000234449" "3" "70" "17" "80828204" "80828204" "subst" "1.22225E-5" "" "TBCD_000001" "g.80828204G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.82870328G>A" "" "likely pathogenic" "" "0000234451" "3" "70" "17" "80828204" "80828204" "subst" "1.22225E-5" "01581" "TBCD_000001" "g.80828204G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.82870328G>A" "" "likely pathogenic" "" "0000248705" "0" "10" "17" "80788492" "80788492" "subst" "0.392954" "02325" "TBCD_000004" "g.80788492A>G" "" "" "" "TBCD(NM_005993.5):c.1318+15682A>G, ZNF750(NM_024702.3):c.1698T>C (p.P566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82830616A>G" "" "benign" "" "0000313171" "0" "10" "17" "80788465" "80788465" "subst" "0.392767" "02325" "TBCD_000003" "g.80788465T>C" "" "" "" "TBCD(NM_005993.5):c.1318+15655T>C, ZNF750(NM_024702.3):c.1725A>G (p.A575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82830589T>C" "" "benign" "" "0000316275" "0" "30" "17" "80710181" "80710181" "subst" "0" "01943" "TBCD_000002" "g.80710181G>T" "" "" "" "TBCD(NM_005993.4):c.112G>T (p.A38S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82752305G>T" "" "likely benign" "" "0000316276" "0" "50" "17" "80858576" "80858576" "subst" "0.000259905" "01943" "TBCD_000006" "g.80858576C>G" "" "" "" "TBCD(NM_005993.4):c.1699C>G (p.L567V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82900700C>G" "" "VUS" "" "0000320347" "0" "30" "17" "80788546" "80788546" "subst" "0.000569212" "01943" "TBCD_000005" "g.80788546G>A" "" "" "" "ZNF750(NM_024702.2):c.1644C>T (p.D548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82830670G>A" "" "likely benign" "" "0000325788" "0" "30" "17" "80918994" "80918994" "subst" "0.000561957" "01804" "B3GNTL1_000004" "g.80918994C>T" "" "" "" "B3GNTL1(NM_001009905.1):c.664G>A (p.(Val222Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82961118C>T" "" "likely benign" "" "0000341530" "0" "50" "17" "80863883" "80863883" "subst" "4.10357E-6" "02327" "TBCD_000010" "g.80863883G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82906007G>A" "" "VUS" "" "0000342770" "0" "50" "17" "80765526" "80765526" "subst" "0" "02327" "TBCD_000009" "g.80765526G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82807650G>A" "" "VUS" "" "0000349480" "0" "50" "17" "80765517" "80765517" "subst" "0" "02327" "TBCD_000008" "g.80765517C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82807641C>T" "" "VUS" "" "0000368382" "3" "70" "17" "80888505" "80888505" "subst" "8.12315E-6" "02457" "TBCD_000011" "g.80888505C>G" "" "" "" "g.178566C>G" "" "Germline" "yes" "" "0" "" "" "g.82930629C>G" "" "likely pathogenic" "" "0000368900" "3" "70" "17" "80888505" "80888505" "subst" "8.12315E-6" "02457" "TBCD_000011" "g.80888505C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.82930629C>G" "" "likely pathogenic" "" "0000368901" "3" "70" "17" "80888505" "80888505" "subst" "8.12315E-6" "02457" "TBCD_000011" "g.80888505C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.82930629C>G" "" "likely pathogenic" "" "0000368964" "3" "70" "17" "80888505" "80888505" "subst" "8.12315E-6" "02457" "TBCD_000011" "g.80888505C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.82930629C>G" "" "likely pathogenic" "" "0000368965" "3" "70" "17" "80888505" "80888505" "subst" "8.12315E-6" "02457" "TBCD_000011" "g.80888505C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.82930629C>G" "" "likely pathogenic" "" "0000368966" "3" "70" "17" "80888505" "80888505" "subst" "8.12315E-6" "02457" "TBCD_000011" "g.80888505C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.82930629C>G" "" "likely pathogenic" "" "0000368967" "3" "70" "17" "80888505" "80888505" "subst" "8.12315E-6" "02457" "TBCD_000011" "g.80888505C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.82930629C>G" "" "likely pathogenic" "" "0000368968" "3" "70" "17" "80888505" "80888505" "subst" "8.12315E-6" "02457" "TBCD_000011" "g.80888505C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.82930629C>G" "" "likely pathogenic" "" "0000563776" "0" "70" "17" "80739598" "80739607" "del" "0" "01804" "TBCD_000007" "g.80739598_80739607del" "" "" "" "TBCD(NM_005993.4):c.769_771+7del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82781722_82781731del" "" "likely pathogenic" "" "0000563777" "0" "30" "17" "80755631" "80755639" "del" "0" "01804" "TBCD_000012" "g.80755631_80755639del" "" "" "" "TBCD(NM_005993.4):c.772-2_778del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82797755_82797763del" "" "likely benign" "" "0000563778" "0" "30" "17" "80763847" "80763847" "subst" "0.00028443" "01804" "TBCD_000013" "g.80763847C>T" "" "" "" "TBCD(NM_005993.4):c.1047C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82805971C>T" "" "likely benign" "" "0000563779" "0" "30" "17" "80788173" "80788173" "subst" "0.000125888" "01804" "TBCD_000014" "g.80788173T>C" "" "" "" "ZNF750(NM_024702.2):c.2017A>G (p.(Met673Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82830297T>C" "" "likely benign" "" "0000563781" "0" "30" "17" "80788199" "80788199" "subst" "0" "01804" "TBCD_000016" "g.80788199C>T" "" "" "" "ZNF750(NM_024702.2):c.1991G>A (p.(Arg664Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82830323C>T" "" "likely benign" "" "0000563782" "0" "50" "17" "80788237" "80788237" "subst" "8.13994E-6" "01943" "TBCD_000017" "g.80788237C>T" "" "" "" "ZNF750(NM_024702.2):c.1953G>A (p.V651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82830361C>T" "" "VUS" "" "0000563783" "0" "50" "17" "80789462" "80789462" "subst" "4.06058E-6" "01943" "TBCD_000018" "g.80789462G>A" "" "" "" "ZNF750(NM_024702.2):c.869C>T (p.P290L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82831586G>A" "" "VUS" "" "0000563784" "0" "30" "17" "80789648" "80789648" "subst" "1.21818E-5" "01943" "TBCD_000019" "g.80789648A>G" "" "" "" "ZNF750(NM_024702.2):c.683T>C (p.L228P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82831772A>G" "" "likely benign" "" "0000563785" "0" "30" "17" "80789802" "80789802" "subst" "8.53014E-5" "01804" "TBCD_000020" "g.80789802C>T" "" "" "" "ZNF750(NM_024702.2):c.529G>A (p.(Glu177Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82831926C>T" "" "likely benign" "" "0000563788" "0" "30" "17" "80878433" "80878433" "subst" "0" "01804" "TBCD_000023" "g.80878433G>T" "" "" "" "TBCD(NM_005993.4):c.2040G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82920557G>T" "" "likely benign" "" "0000563789" "0" "30" "17" "80878435" "80878435" "subst" "0" "01804" "TBCD_000024" "g.80878435G>T" "" "" "" "TBCD(NM_005993.4):c.2042G>T (p.(Cys681Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82920559G>T" "" "likely benign" "" "0000563790" "0" "30" "17" "80878437" "80878437" "subst" "0" "01804" "TBCD_000025" "g.80878437G>T" "" "" "" "TBCD(NM_005993.4):c.2044G>T (p.(Val682Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82920561G>T" "" "likely benign" "" "0000563791" "0" "50" "17" "80885203" "80885203" "subst" "0.00021656" "01804" "TBCD_000026" "g.80885203C>T" "" "" "" "TBCD(NM_005993.4):c.2609+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82927327C>T" "" "VUS" "" "0000563794" "0" "30" "17" "80899349" "80899349" "subst" "0.00598691" "01804" "B3GNTL1_000002" "g.80899349T>C" "" "" "" "TBCD(NM_005993.4):c.3554T>C (p.(Leu1185Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82941473T>C" "" "likely benign" "" "0000563795" "0" "30" "17" "80915348" "80915348" "subst" "9.2341E-5" "01943" "B3GNTL1_000003" "g.80915348C>T" "" "" "" "B3GNTL1(NM_001320743.1):c.214G>A (p.V72I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82957472C>T" "" "likely benign" "" "0000616935" "0" "30" "17" "80763844" "80763844" "subst" "0.0016169" "01943" "TBCD_000028" "g.80763844C>T" "" "" "" "TBCD(NM_005993.4):c.1044C>T (p.D348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82805968C>T" "" "likely benign" "" "0000616936" "0" "50" "17" "80878454" "80878454" "subst" "0" "02327" "TBCD_000030" "g.80878454G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82920578G>T" "" "VUS" "" "0000616937" "0" "30" "17" "80887150" "80887150" "subst" "0.00292859" "02327" "TBCD_000031" "g.80887150A>G" "" "" "" "TBCD(NM_005993.4):c.2852+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82929274A>G" "" "likely benign" "" "0000623797" "0" "30" "17" "80828248" "80828248" "subst" "0.00195305" "01943" "TBCD_000029" "g.80828248A>G" "" "" "" "TBCD(NM_005993.4):c.1467A>G (p.A489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82870372A>G" "" "likely benign" "" "0000658306" "0" "30" "17" "80885156" "80885156" "subst" "0.00150706" "01943" "TBCD_000032" "g.80885156A>G" "" "" "" "TBCD(NM_005993.4):c.2566A>G (p.M856V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82927280A>G" "" "likely benign" "" "0000681080" "0" "50" "17" "80790183" "80790183" "del" "0" "01804" "TBCD_000033" "g.80790183del" "" "" "" "ZNF750(NM_024702.2):c.152del (p.(Asn51ThrfsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681081" "0" "50" "17" "80887150" "80887150" "subst" "0.00292859" "01943" "TBCD_000031" "g.80887150A>G" "" "" "" "TBCD(NM_005993.4):c.2852+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681082" "0" "50" "17" "80915296" "80915296" "subst" "0" "01943" "B3GNTL1_000005" "g.80915296C>T" "" "" "" "B3GNTL1(NM_001320743.1):c.266G>A (p.W89*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681083" "0" "50" "17" "81006628" "81006628" "subst" "0" "01943" "B3GNTL1_000006" "g.81006628A>G" "" "" "" "B3GNTL1(NM_001320742.1):c.52T>C (p.W18R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692533" "0" "30" "17" "80881602" "80881602" "subst" "0" "01943" "TBCD_000034" "g.80881602A>G" "" "" "" "TBCD(NM_005993.4):c.2253A>G (p.A751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692534" "0" "30" "17" "80884315" "80884315" "subst" "0.000670171" "01943" "TBCD_000035" "g.80884315G>A" "" "" "" "TBCD(NM_005993.4):c.2419G>A (p.E807K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692535" "0" "30" "17" "80885776" "80885776" "subst" "2.03355E-5" "01943" "TBCD_000036" "g.80885776A>G" "" "" "" "TBCD(NM_005993.4):c.2610-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692536" "0" "30" "17" "80887155" "80887155" "subst" "8.55188E-5" "01943" "TBCD_000037" "g.80887155C>T" "" "" "" "TBCD(NM_005993.4):c.2852+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692537" "0" "30" "17" "80887384" "80887384" "subst" "5.46931E-5" "01943" "TBCD_000038" "g.80887384G>A" "" "" "" "TBCD(NM_005993.4):c.2991+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726791" "0" "50" "17" "80714086" "80714086" "subst" "4.17774E-6" "01943" "TBCD_000039" "g.80714086A>G" "" "" "" "TBCD(NM_005993.4):c.230A>G (p.H77R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726793" "0" "30" "17" "80888475" "80888475" "subst" "0.00238434" "01943" "TBCD_000040" "g.80888475C>T" "" "" "" "TBCD(NM_005993.4):c.3069C>T (p.S1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726794" "0" "30" "17" "80897299" "80897299" "subst" "0.000831974" "01943" "B3GNTL1_000007" "g.80897299C>T" "" "" "" "TBCD(NM_005993.4):c.3426C>T (p.V1142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000794172" "3" "90" "17" "80858589" "80858589" "subst" "4.06105E-6" "04137" "TBCD_000041" "g.80858589A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.82900713A>G" "" "VUS" "ACMG" "0000808355" "0" "30" "17" "80828104" "80828104" "subst" "0.000167707" "01943" "TBCD_000042" "g.80828104C>T" "" "" "" "TBCD(NM_005993.4):c.1323C>T (p.V441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808356" "0" "30" "17" "80847540" "80847540" "subst" "0.00034554" "01943" "TBCD_000043" "g.80847540G>A" "" "" "" "TBCD(NM_005993.4):c.1534-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808357" "0" "30" "17" "80897320" "80897320" "subst" "0.000412262" "01943" "B3GNTL1_000008" "g.80897320C>T" "" "" "" "TBCD(NM_005993.4):c.3447C>T (p.D1149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855182" "0" "30" "17" "80861345" "80861345" "subst" "0.000134691" "01943" "TBCD_000045" "g.80861345G>A" "" "" "" "TBCD(NM_005993.4):c.1795G>A (p.A599T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865573" "0" "30" "17" "80851437" "80851437" "subst" "8.2815E-6" "01943" "TBCD_000044" "g.80851437T>C" "" "" "" "TBCD(NM_005993.4):c.1578T>C (p.H526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865574" "0" "30" "17" "80899313" "80899313" "subst" "0.0028527" "01804" "B3GNTL1_000009" "g.80899313G>A" "" "" "" "TBCD(NM_005993.4):c.3518G>A (p.(Arg1173His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894361" "0" "70" "17" "80765522" "80765522" "subst" "0" "02327" "TBCD_000046" "g.80765522G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894363" "0" "50" "17" "80828195" "80828195" "subst" "0" "02327" "TBCD_000047" "g.80828195T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894364" "0" "70" "17" "80858538" "80858538" "subst" "0" "02329" "TBCD_000048" "g.80858538C>A" "" "" "" "TBCD(NM_005993.5):c.1661C>A (p.A554D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894365" "0" "50" "17" "80887359" "80887359" "subst" "0" "02327" "TBCD_000049" "g.80887359G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894366" "0" "50" "17" "80897245" "80897245" "subst" "0" "02329" "B3GNTL1_000001" "g.80897245C>G" "" "" "" "TBCD(NM_005993.5):c.3372C>G (p.I1124M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982924" "0" "30" "17" "80763891" "80763891" "subst" "2.03548E-5" "01804" "TBCD_000050" "g.80763891C>T" "" "" "" "TBCD(NM_005993.5):c.1087+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982925" "0" "50" "17" "80858518" "80858518" "subst" "0.000154369" "01804" "TBCD_000051" "g.80858518C>G" "" "" "" "TBCD(NM_005993.5):c.1650-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982926" "0" "50" "17" "80863883" "80863883" "subst" "6.56572E-5" "01804" "TBCD_000052" "g.80863883G>T" "" "" "" "TBCD(NM_005993.5):c.1876G>T (p.(Ala626Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982927" "0" "50" "17" "80895950" "80895950" "subst" "8.15568E-6" "01804" "B3GNTL1_000010" "g.80895950G>A" "" "" "" "TBCD(NM_005993.5):c.3307G>A (p.(Gly1103Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003879" "0" "50" "17" "80788242" "80788242" "subst" "1.22193E-5" "01804" "TBCD_000053" "g.80788242G>A" "" "" "" "ZNF750(NM_024702.2):c.1948C>T (p.(Arg650Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003880" "0" "50" "17" "80788710" "80788710" "subst" "4.12089E-6" "01804" "TBCD_000054" "g.80788710C>T" "" "" "" "ZNF750(NM_024702.2):c.1480G>A (p.(Ala494Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003881" "0" "50" "17" "80789280" "80789280" "subst" "4.06098E-6" "01804" "TBCD_000055" "g.80789280C>G" "" "" "" "ZNF750(NM_024702.2):c.1051G>C (p.(Glu351Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003882" "0" "30" "17" "80881588" "80881588" "subst" "0.000243922" "01804" "TBCD_000056" "g.80881588G>A" "" "" "" "TBCD(NM_005993.4):c.2239G>A (p.(Glu747Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042300" "0" "30" "17" "80710261" "80710274" "del" "0" "01804" "FN3K_000001" "g.80710261_80710274del" "" "" "" "TBCD(NM_005993.5):c.184+8_184+21del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042301" "0" "70" "17" "80772798" "80772798" "subst" "0" "01804" "TBCD_000057" "g.80772798C>T" "" "" "" "TBCD(NM_005993.5):c.1306C>T (p.(Arg436*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042302" "0" "30" "17" "80858524" "80858524" "subst" "4.06154E-6" "01804" "TBCD_000058" "g.80858524C>T" "" "" "" "TBCD(NM_005993.5):c.1650-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042303" "0" "50" "17" "80863849" "80863849" "subst" "4.08087E-6" "01804" "TBCD_000059" "g.80863849T>G" "" "" "" "TBCD(NM_005993.5):c.1842T>G (p.(Asp614Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042304" "0" "50" "17" "80887299" "80887299" "subst" "0" "01804" "TBCD_000060" "g.80887299C>T" "" "" "" "TBCD(NM_005993.5):c.2914C>T (p.(Leu972Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042305" "0" "50" "17" "80900312" "80900316" "del" "9.34838E-5" "01804" "B3GNTL1_000011" "g.80900312_80900316del" "" "" "" "TBCD(NM_005993.5):c.3565-13_3565-9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049566" "3" "90" "17" "80714086" "80714086" "subst" "4.17774E-6" "00006" "TBCD_000039" "g.80714086A>G" "" "{PMID:Elmas 2019:30426380}" "" "" "" "Germline" "" "" "0" "" "" "g.82756210A>G" "" "pathogenic (recessive)" "" "0001056250" "0" "50" "17" "80765511" "80765516" "del" "0" "01804" "TBCD_000061" "g.80765511_80765516del" "" "" "" "TBCD(NM_005993.5):c.1115_1120del (p.(Lys372_Asp373del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056251" "0" "50" "17" "80899315" "80899315" "subst" "0" "01804" "B3GNTL1_000012" "g.80899315C>G" "" "" "" "TBCD(NM_005993.5):c.3520C>G (p.(Leu1174Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060700" "0" "70" "17" "80863929" "80863929" "subst" "0" "00006" "TBCD_000062" "g.80863929G>C" "" "{PMID:Wai 2020:32123317}" "" "" "upstream and downstream exons skipped" "Germline" "" "" "0" "" "" "g.82906053G>C" "" "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 TBCD ## Count = 81 "{{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}}" "0000234449" "00020835" "70" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Ala475Thr)" "14" "0000234451" "00020835" "70" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Ala475Thr)" "14" "0000248705" "00020835" "10" "1318" "15682" "1318" "15682" "c.1318+15682A>G" "r.(=)" "p.(=)" "" "0000313171" "00020835" "10" "1318" "15655" "1318" "15655" "c.1318+15655T>C" "r.(=)" "p.(=)" "" "0000316275" "00020835" "30" "112" "0" "112" "0" "c.112G>T" "r.(?)" "p.(Ala38Ser)" "" "0000316276" "00020835" "50" "1699" "0" "1699" "0" "c.1699C>G" "r.(?)" "p.(Leu567Val)" "" "0000320347" "00020835" "30" "1318" "15736" "1318" "15736" "c.1318+15736G>A" "r.(=)" "p.(=)" "" "0000325788" "00020835" "30" "22234" "0" "22234" "0" "c.*18655C>T" "r.(=)" "p.(=)" "" "0000341530" "00020835" "50" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Ala626Thr)" "" "0000342770" "00020835" "50" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Gln)" "" "0000349480" "00020835" "50" "1121" "0" "1121" "0" "c.1121C>T" "r.(?)" "p.(Thr374Met)" "" "0000368382" "00020835" "70" "3099" "0" "3099" "0" "c.3099C>G" "r.(?)" "p.(Asn1033Lys)" "33" "0000368900" "00020835" "70" "3099" "0" "3099" "0" "c.3099C>G" "r.(?)" "p.(Asn1033Lys)" "33" "0000368901" "00020835" "70" "3099" "0" "3099" "0" "c.3099C>G" "r.(?)" "p.(Asn1033Lys)" "" "0000368964" "00020835" "70" "3099" "0" "3099" "0" "c.3099C>G" "r.(?)" "p.(Asn1033Lys)" "" "0000368965" "00020835" "70" "3099" "0" "3099" "0" "c.3099C>G" "r.(?)" "p.(Asn1033Lys)" "" "0000368966" "00020835" "70" "3099" "0" "3099" "0" "c.3099C>G" "r.(?)" "p.(Asn1033Lys)" "" "0000368967" "00020835" "70" "3099" "0" "3099" "0" "c.3099C>G" "r.(?)" "p.(Asn1033Lys)" "33" "0000368968" "00020835" "70" "3099" "0" "3099" "0" "c.3099C>G" "r.(?)" "p.(Asn1033Lys)" "33" "0000563776" "00020835" "70" "771" "1" "771" "10" "c.771+1_771+10del" "r.spl?" "p.?" "" "0000563777" "00020835" "30" "772" "-2" "778" "0" "c.772-2_778del" "r.spl?" "p.?" "" "0000563778" "00020835" "30" "1047" "0" "1047" "0" "c.1047C>T" "r.(?)" "p.(Asp349=)" "" "0000563779" "00020835" "30" "1318" "15363" "1318" "15363" "c.1318+15363T>C" "r.(=)" "p.(=)" "" "0000563781" "00020835" "30" "1318" "15389" "1318" "15389" "c.1318+15389C>T" "r.(=)" "p.(=)" "" "0000563782" "00020835" "50" "1318" "15427" "1318" "15427" "c.1318+15427C>T" "r.(=)" "p.(=)" "" "0000563783" "00020835" "50" "1318" "16652" "1318" "16652" "c.1318+16652G>A" "r.(=)" "p.(=)" "" "0000563784" "00020835" "30" "1318" "16838" "1318" "16838" "c.1318+16838A>G" "r.(=)" "p.(=)" "" "0000563785" "00020835" "30" "1318" "16992" "1318" "16992" "c.1318+16992C>T" "r.(=)" "p.(=)" "" "0000563788" "00020835" "30" "2040" "0" "2040" "0" "c.2040G>T" "r.(?)" "p.(Val680=)" "" "0000563789" "00020835" "30" "2042" "0" "2042" "0" "c.2042G>T" "r.(?)" "p.(Cys681Phe)" "" "0000563790" "00020835" "30" "2044" "0" "2044" "0" "c.2044G>T" "r.(?)" "p.(Val682Phe)" "" "0000563791" "00020835" "50" "2609" "4" "2609" "4" "c.2609+4C>T" "r.spl?" "p.?" "" "0000563794" "00020835" "30" "3554" "0" "3554" "0" "c.3554T>C" "r.(?)" "p.(Leu1185Pro)" "" "0000563795" "00020835" "30" "18588" "0" "18588" "0" "c.*15009C>T" "r.(=)" "p.(=)" "" "0000616935" "00020835" "30" "1044" "0" "1044" "0" "c.1044C>T" "r.(?)" "p.(Asp348=)" "" "0000616936" "00020835" "50" "2061" "0" "2061" "0" "c.2061G>T" "r.(?)" "p.(Leu687Phe)" "" "0000616937" "00020835" "30" "2852" "3" "2852" "3" "c.2852+3A>G" "r.spl?" "p.?" "" "0000623797" "00020835" "30" "1467" "0" "1467" "0" "c.1467A>G" "r.(?)" "p.(Ala489=)" "" "0000658306" "00020835" "30" "2566" "0" "2566" "0" "c.2566A>G" "r.(?)" "p.(Met856Val)" "" "0000681080" "00020835" "50" "1318" "17373" "1318" "17373" "c.1318+17373del" "r.(=)" "p.(=)" "" "0000681081" "00020835" "50" "2852" "3" "2852" "3" "c.2852+3A>G" "r.spl?" "p.?" "" "0000681082" "00020835" "50" "18536" "0" "18536" "0" "c.*14957C>T" "r.(=)" "p.(=)" "" "0000681083" "00020835" "50" "109868" "0" "109868" "0" "c.*106289A>G" "r.(=)" "p.(=)" "" "0000692533" "00020835" "30" "2253" "0" "2253" "0" "c.2253A>G" "r.(?)" "p.(Ala751=)" "" "0000692534" "00020835" "30" "2419" "0" "2419" "0" "c.2419G>A" "r.(?)" "p.(Glu807Lys)" "" "0000692535" "00020835" "30" "2610" "-5" "2610" "-5" "c.2610-5A>G" "r.spl?" "p.?" "" "0000692536" "00020835" "30" "2852" "8" "2852" "8" "c.2852+8C>T" "r.(=)" "p.(=)" "" "0000692537" "00020835" "30" "2991" "8" "2991" "8" "c.2991+8G>A" "r.(=)" "p.(=)" "" "0000726791" "00020835" "50" "230" "0" "230" "0" "c.230A>G" "r.(?)" "p.(His77Arg)" "" "0000726793" "00020835" "30" "3069" "0" "3069" "0" "c.3069C>T" "r.(?)" "p.(Ser1023=)" "" "0000726794" "00020835" "30" "3426" "0" "3426" "0" "c.3426C>T" "r.(?)" "p.(Val1142=)" "" "0000794172" "00020835" "90" "1712" "0" "1712" "0" "c.1712A>G" "r.(?)" "p.(Lys571Arg)" "" "0000808355" "00020835" "30" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Val441=)" "" "0000808356" "00020835" "30" "1534" "-4" "1534" "-4" "c.1534-4G>A" "r.spl?" "p.?" "" "0000808357" "00020835" "30" "3447" "0" "3447" "0" "c.3447C>T" "r.(?)" "p.(Asp1149=)" "" "0000855182" "00020835" "30" "1795" "0" "1795" "0" "c.1795G>A" "r.(?)" "p.(Ala599Thr)" "" "0000865573" "00020835" "30" "1578" "0" "1578" "0" "c.1578T>C" "r.(?)" "p.(His526=)" "" "0000865574" "00020835" "30" "3518" "0" "3518" "0" "c.3518G>A" "r.(?)" "p.(Arg1173His)" "" "0000894361" "00020835" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Val376Met)" "" "0000894363" "00020835" "50" "1414" "0" "1414" "0" "c.1414T>G" "r.(?)" "p.(Trp472Gly)" "" "0000894364" "00020835" "70" "1661" "0" "1661" "0" "c.1661C>A" "r.(?)" "p.(Ala554Asp)" "" "0000894365" "00020835" "50" "2974" "0" "2974" "0" "c.2974G>A" "r.(?)" "p.(Gly992Ser)" "" "0000894366" "00020835" "50" "3372" "0" "3372" "0" "c.3372C>G" "r.(?)" "p.(Ile1124Met)" "" "0000982924" "00020835" "30" "1087" "4" "1087" "4" "c.1087+4C>T" "r.spl?" "p.?" "" "0000982925" "00020835" "50" "1650" "-9" "1650" "-9" "c.1650-9C>G" "r.(=)" "p.(=)" "" "0000982926" "00020835" "50" "1876" "0" "1876" "0" "c.1876G>T" "r.(?)" "p.(Ala626Ser)" "" "0000982927" "00020835" "50" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Gly1103Ser)" "" "0001003879" "00020835" "50" "1318" "15432" "1318" "15432" "c.1318+15432G>A" "r.(=)" "p.(=)" "" "0001003880" "00020835" "50" "1318" "15900" "1318" "15900" "c.1318+15900C>T" "r.(=)" "p.(=)" "" "0001003881" "00020835" "50" "1318" "16470" "1318" "16470" "c.1318+16470C>G" "r.(=)" "p.(=)" "" "0001003882" "00020835" "30" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Glu747Lys)" "" "0001042300" "00020835" "30" "184" "8" "184" "21" "c.184+8_184+21del" "r.(=)" "p.(=)" "" "0001042301" "00020835" "70" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436*)" "" "0001042302" "00020835" "30" "1650" "-3" "1650" "-3" "c.1650-3C>T" "r.spl?" "p.?" "" "0001042303" "00020835" "50" "1842" "0" "1842" "0" "c.1842T>G" "r.(?)" "p.(Asp614Glu)" "" "0001042304" "00020835" "50" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Leu972Phe)" "" "0001042305" "00020835" "50" "3565" "-13" "3565" "-9" "c.3565-13_3565-9del" "r.(=)" "p.(=)" "" "0001049566" "00020835" "90" "230" "0" "230" "0" "c.230A>G" "r.(?)" "p.(His77Arg)" "" "0001056250" "00020835" "50" "1115" "0" "1120" "0" "c.1115_1120del" "r.(?)" "p.(Lys372_Asp373del)" "" "0001056251" "00020835" "50" "3520" "0" "3520" "0" "c.3520C>G" "r.(?)" "p.(Leu1174Val)" "" "0001060700" "00020835" "70" "1922" "0" "1922" "0" "c.1922G>C" "r.1805_2006del" "p.Val602GlyfsTer8" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000144043" "0000234449" "0000144045" "0000234451" "0000164780" "0000368382" "0000165242" "0000368900" "0000165243" "0000368901" "0000165303" "0000368964" "0000165304" "0000368965" "0000165305" "0000368966" "0000165306" "0000368967" "0000165307" "0000368968" "0000380931" "0000794172" "0000469302" "0001049566" "0000472288" "0001060700"