### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BRAT1) # 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}}" "BRAT1" "BRCA1-associated ATM activator 1" "7" "p22.3" "unknown" "NG_032167.1" "UD_132438005472" "" "https://www.LOVD.nl/BRAT1" "" "1" "21701" "221927" "614506" "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/BRAT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-25 10:05:05" "00000" "2022-05-09 15:51:19" ## 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}}" "00003477" "BRAT1" "BRCA1-associated ATM activator 1" "001" "NM_152743.3" "" "NP_689956.2" "" "" "" "-288" "2725" "2466" "2595392" "2577444" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00921" "RMFSL" "rigidity and multifocal seizure, lethal neonatal syndrome (RMFSL)" "AR" "614498" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05888" "NEDCAS" "neurodevelopmental disorder with cerebellar atrophy, with/without seizures (NEDCAS)" "AR" "618056" "" "" "" "00006" "2020-12-29 18:59:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "BRAT1" "00139" "BRAT1" "00921" "BRAT1" "05888" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00168941" "" "" "" "1" "" "01469" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00168942" "" "" "" "1" "" "01469" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00177003" "" "" "" "1" "" "02552" "" "" "M" "no" "Austria" "" "0" "" "" "" "73311" "00294419" "" "" "" "42" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294420" "" "" "" "32" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305149" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305150" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00325074" "" "" "" "1" "" "03746" "" "" "F" "no" "Italy" "" "0" "" "" "" "" "00375646" "" "" "" "2" "" "00006" "{PMID:Srivastava 2014:25131622}" "family, several affected" "" "" "United States" "" "0" "" "" "" "Pat29" "00408973" "" "" "" "1" "" "00000" "{PMID:Puffenberger 2012:22279524}" "no patient number in publication, consecutive numbers given" "?" "" "" "" "0" "" "" "Old Order Amish and Mennonite" "2" "00408974" "" "" "" "1" "" "00000" "{PMID:Puffenberger 2012:22279524}" "no patient number in publication, consecutive numbers given" "?" "" "" "" "0" "" "" "Old Order Amish and Mennonite" "3" "00408975" "" "" "" "1" "" "00000" "{PMID:Puffenberger 2012:22279524}" "no patient number in publication, consecutive numbers given" "?" "" "" "" "0" "" "" "Old Order Amish and Mennonite" "4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00168941" "00921" "00168942" "00921" "00177003" "00344" "00294419" "00198" "00294420" "00198" "00305149" "00198" "00305150" "00198" "00325074" "00198" "00375646" "00198" "00408973" "00921" "00408974" "00921" "00408975" "00921" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 00921, 05888 ## 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}}" "0000133802" "00921" "00168941" "01469" "Familial, autosomal recessive" "" "neurodevelopmental delay, mild-moderate intellectual disability,congenital non-progressive ataxia, generalized hypotonia, decreased muscle strength and trophism, bilateral pes planus, severe dysarthria, strabismus and nystagmus, Moderate-severe sensorineural hearing loss, global cerebellar hypoplasia with enlarged interfolial spaces on brain MRI" "" "" "" "" "" "" "" "" "" "" "" "0000133803" "00921" "00168942" "01469" "Familial, autosomal recessive" "" "neurodevelopmental delay, mild-moderate intellectual disability,congenital non-progressive ataxia, generalized hypotonia, decreased muscle strength and trophism, bilateral pes planus, severe dysarthria, nystagmus, marked enlargement of cerebellar interfolial spaces on brain MRI" "" "" "" "" "" "" "" "" "" "" "" "0000141821" "00344" "00177003" "02552" "Familial, autosomal recessive" "" "" "" "" "HP:0003623" "" "" "" "" "" "" "" "" "0000243560" "00198" "00325074" "03746" "Isolated (sporadic)" "18y" "13y-decline in scholar performance (impairments in memory and attention); 14y-tonic-clonic seizure (further seizures characterized by staring spells and palpebral myoclonus); mild daily fluctuating ataxia, distal tremor, bradylalia, borderline intellectual functioning (IQ 73 Wechsler scale); EEG diffuse sharp-and-wave complexes; MRI and MR Spectroscopy (MRS) shrunken cerebellum with reduction of the N-acetyl aspartate peak, without progression over time; antiepileptic drugs (including valproic acid, levetiracetam and lamotrigine) ineffective in complete control seizures; stable clinical course; double-membrane bound granular and osmiophilic inclusions cytoplasm dermal fibroblasts and myelinated fibers on skin biopsy" "13y" "16y" "" "" "" "" "" "" "NEDCAS" "" "" "0000270859" "00198" "00375646" "00006" "Familial, autosomal recessive" "" "intellectual disability/developmental delay; microcephaly; strabismus, nystagmus; dysarthria; hypotonia, tremor, ataxia, dysmetria, broad-based gait; hyper-reflexia; stereotyped behavior; MRI brain cerebellar atrophy" "" "8y" "" "" "" "" "" "" "" "" "" "0000301091" "00921" "00408973" "00000" "Familial, autosomal recessive" "" "in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids)" "" "" "" "" "" "" "" "" "syndrome, rigidity and multifocal seizure, lethal neonatal (RMFSL)" "" "" "0000301092" "00921" "00408974" "00000" "Familial, autosomal recessive" "" "in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids)" "" "" "" "" "" "" "" "" "syndrome, rigidity and multifocal seizure, lethal neonatal (RMFSL)" "" "" "0000301093" "00921" "00408975" "00000" "Familial, autosomal recessive" "" "in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids)" "" "" "" "" "" "" "" "" "syndrome, rigidity and multifocal seizure, lethal neonatal (RMFSL)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000169813" "00168941" "1" "01469" "01469" "2018-07-20 13:06:48" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000169814" "00168942" "1" "01469" "01469" "2018-07-20 13:18:22" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000177895" "00177003" "1" "02552" "02552" "2018-08-15 14:46:21" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000295587" "00294419" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295588" "00294420" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306278" "00305149" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306279" "00305150" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000326283" "00325074" "1" "03746" "03746" "2020-12-29 17:18:12" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000376843" "00375646" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000410238" "00408973" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000410239" "00408974" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000410240" "00408975" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000169813" "BRAT1" "0000169814" "BRAT1" "0000410238" "BRAT1" "0000410239" "BRAT1" "0000410240" "BRAT1" ## 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 = 66 "{{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}}" "0000259280" "0" "10" "7" "2587122" "2587122" "subst" "0.389748" "02325" "BRAT1_000014" "g.2587122T>C" "" "" "" "BRAT1(NM_152743.4):c.128-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2547488T>C" "" "benign" "" "0000259281" "0" "10" "7" "2578237" "2578237" "subst" "0.387337" "02325" "BRAT1_000002" "g.2578237T>C" "" "" "" "BRAT1(NM_152743.4):c.1932A>G (p.R644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2538603T>C" "" "benign" "" "0000259282" "0" "10" "7" "2577781" "2577781" "subst" "0.386885" "02325" "BRAT1_000001" "g.2577781T>C" "" "" "" "BRAT1(NM_152743.4):c.2388A>G (p.E796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2538147T>C" "" "benign" "" "0000259793" "0" "90" "7" "2580939" "2580940" "del" "0.0000713967" "02325" "BRAT1_000007" "g.2580939_2580940del" "" "" "" "BRAT1(NM_152743.4):c.1313_1314delAG (p.Q438Rfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2541305_2541306del" "" "pathogenic" "" "0000259794" "0" "90" "7" "2583390" "2583390" "dup" "0" "02325" "BRAT1_000010" "g.2583390dup" "" "" "" "BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2543756dup" "" "pathogenic" "" "0000331381" "0" "50" "7" "2578247" "2578247" "subst" "0.000519746" "01804" "BRAT1_000003" "g.2578247G>A" "" "" "" "BRAT1(NM_001350626.1):c.2102C>T (p.A701V), BRAT1(NM_152743.3):c.1922C>T (p.(Ala641Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2538613G>A" "" "VUS" "" "0000331382" "0" "50" "7" "2578847" "2578847" "subst" "0.0000125197" "01804" "BRAT1_000004" "g.2578847G>A" "" "" "" "BRAT1(NM_152743.3):c.1736C>T (p.(Ala579Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2539213G>A" "" "VUS" "" "0000331383" "0" "50" "7" "2579495" "2579495" "subst" "0" "01804" "BRAT1_000005" "g.2579495G>A" "" "" "" "BRAT1(NM_152743.3):c.1423C>T (p.(Leu475Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2539861G>A" "" "VUS" "" "0000331384" "0" "50" "7" "2580609" "2580609" "subst" "0.000258549" "01804" "BRAT1_000006" "g.2580609G>A" "" "" "" "BRAT1(NM_152743.3):c.1395+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2540975G>A" "" "VUS" "" "0000331386" "0" "50" "7" "2583467" "2583467" "subst" "0.000261222" "01804" "BRAT1_000011" "g.2583467G>C" "" "" "" "BRAT1(NM_152743.3):c.560C>G (p.(Pro187Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2543833G>C" "" "VUS" "" "0000331387" "0" "30" "7" "2583596" "2583596" "subst" "0.000992166" "01804" "BRAT1_000012" "g.2583596C>T" "" "" "" "BRAT1(NM_152743.3):c.431G>A (p.(Gly144Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2543962C>T" "" "likely benign" "" "0000337633" "0" "10" "7" "2587122" "2587122" "subst" "0.389748" "02327" "BRAT1_000014" "g.2587122T>C" "" "" "" "BRAT1(NM_152743.4):c.128-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2547488T>C" "" "benign" "" "0000339769" "0" "10" "7" "2577781" "2577781" "subst" "0.386885" "02327" "BRAT1_000001" "g.2577781T>C" "" "" "" "BRAT1(NM_152743.4):c.2388A>G (p.E796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2538147T>C" "" "benign" "" "0000339770" "0" "10" "7" "2578237" "2578237" "subst" "0.387337" "02327" "BRAT1_000002" "g.2578237T>C" "" "" "" "BRAT1(NM_152743.4):c.1932A>G (p.R644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2538603T>C" "" "benign" "" "0000382839" "21" "90" "7" "2580613" "2580613" "subst" "0.0000222487" "01469" "BRAT1_000016" "g.2580613C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2540979C>T" "" "pathogenic" "" "0000382840" "11" "90" "7" "2583390" "2583390" "dup" "0" "01469" "BRAT1_000015" "g.2583390dup" "" "" "" "638dupA" "" "Germline" "yes" "rs730880324" "0" "" "" "g.2543756dup" "" "pathogenic" "" "0000382841" "11" "90" "7" "2583390" "2583390" "dup" "0" "01469" "BRAT1_000015" "g.2583390dup" "" "" "" "638dupA" "" "Germline" "yes" "" "0" "" "" "g.2543756dup" "" "pathogenic" "" "0000382842" "21" "90" "7" "2580613" "2580613" "subst" "0.0000222487" "01469" "BRAT1_000016" "g.2580613C>T" "" "" "" "" "" "Germline" "yes" "rs201855243" "0" "" "" "g.2540979C>T" "" "pathogenic" "" "0000400769" "11" "90" "7" "2578044" "2578047" "del" "0" "02552" "BRAT1_000017" "g.2578044_2578047del" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.2538410_2538413del" "" "pathogenic" "" "0000400770" "21" "90" "7" "2583390" "2583390" "dup" "0" "02552" "BRAT1_000015" "g.2583390dup" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.2543756dup" "" "pathogenic" "" "0000531740" "0" "30" "7" "2578924" "2578924" "subst" "0.0019114" "02326" "BRAT1_000020" "g.2578924G>A" "" "" "" "BRAT1(NM_001350626.2):c.1659C>T (p.L553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2539290G>A" "" "likely benign" "" "0000531741" "0" "50" "7" "2579225" "2579225" "subst" "0" "01804" "BRAT1_000021" "g.2579225C>T" "" "" "" "BRAT1(NM_152743.3):c.1550G>A (p.(Arg517Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2539591C>T" "" "VUS" "" "0000531742" "0" "30" "7" "2579463" "2579463" "subst" "0.0000807157" "01943" "BRAT1_000022" "g.2579463G>A" "" "" "" "BRAT1(NM_152743.3):c.1455C>T (p.P485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2539829G>A" "" "likely benign" "" "0000531743" "0" "50" "7" "2580973" "2580973" "subst" "0.0000816572" "01943" "BRAT1_000023" "g.2580973C>T" "" "" "" "BRAT1(NM_152743.3):c.1280G>A (p.R427Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2541339C>T" "" "VUS" "" "0000531744" "0" "30" "7" "2581338" "2581338" "subst" "0.00125576" "02326" "BRAT1_000024" "g.2581338C>T" "" "" "" "BRAT1(NM_152743.4):c.1134+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2541704C>T" "" "likely benign" "" "0000531745" "0" "30" "7" "2582895" "2582895" "subst" "0.00588394" "01804" "BRAT1_000025" "g.2582895C>G" "" "" "" "BRAT1(NM_152743.3):c.866G>C (p.(Cys289Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2543261C>G" "" "likely benign" "" "0000531747" "0" "10" "7" "2583352" "2583352" "subst" "0.00100499" "02326" "BRAT1_000027" "g.2583352G>A" "" "" "" "BRAT1(NM_001350626.2):c.675C>T (p.F225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2543718G>A" "" "benign" "" "0000531749" "0" "90" "7" "2583390" "2583390" "dup" "0" "02329" "BRAT1_000010" "g.2583390dup" "" "" "" "BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2543756dup" "" "pathogenic" "" "0000611023" "0" "30" "7" "2581807" "2581807" "subst" "0.00590498" "01804" "BRAT1_000029" "g.2581807A>C" "" "" "" "BRAT1(NM_152743.3):c.962T>G (p.(Leu321Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2542173A>C" "" "likely benign" "" "0000611024" "0" "30" "7" "2582878" "2582878" "subst" "0.000238197" "01804" "BRAT1_000030" "g.2582878T>C" "" "" "" "BRAT1(NM_152743.3):c.883A>G (p.(Met295Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2543244T>C" "" "likely benign" "" "0000611025" "0" "50" "7" "2584618" "2584618" "subst" "0" "02325" "BRAT1_000032" "g.2584618C>T" "" "" "" "BRAT1(NM_001350626.2):c.355G>A (p.V119M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2544984C>T" "" "VUS" "" "0000611026" "0" "30" "7" "2584628" "2584628" "subst" "0" "01943" "BRAT1_000033" "g.2584628G>A" "" "" "" "BRAT1(NM_001350626.1):c.345C>T (p.A115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2544994G>A" "" "likely benign" "" "0000621874" "0" "30" "7" "2582936" "2582936" "subst" "0.000464946" "02326" "BRAT1_000031" "g.2582936G>A" "" "" "" "BRAT1(NM_001350626.2):c.825C>T (p.S275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2543302G>A" "" "likely benign" "" "0000652276" "1" "10" "7" "2578857" "2578857" "subst" "0.0116348" "03575" "BRAT1_000034" "g.2578857C>T" "42/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "42 heterozygous; {DB:CLININrs61740320}" "Germline" "" "rs61740320" "0" "" "" "g.2539223C>T" "" "benign" "" "0000652277" "1" "30" "7" "2581807" "2581807" "subst" "0.00590498" "03575" "BRAT1_000029" "g.2581807A>C" "32/2769 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "32 heterozygous; {DB:CLININrs150942467}" "Germline" "" "rs150942467" "0" "" "" "g.2542173A>C" "" "likely benign" "" "0000669966" "3" "10" "7" "2578857" "2578857" "subst" "0.0116348" "03575" "BRAT1_000034" "g.2578857C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs61740320}" "Germline" "" "rs61740320" "0" "" "" "g.2539223C>T" "" "benign" "" "0000669967" "3" "30" "7" "2581807" "2581807" "subst" "0.00590498" "03575" "BRAT1_000029" "g.2581807A>C" "1/2769 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs150942467}" "Germline" "" "rs150942467" "0" "" "" "g.2542173A>C" "" "likely benign" "" "0000678080" "0" "30" "7" "2577961" "2577961" "subst" "0.00256545" "02326" "BRAT1_000035" "g.2577961C>A" "" "" "" "BRAT1(NM_001350626.1):c.2388G>T (p.L796=), BRAT1(NM_001350626.2):c.2388G>T (p.L796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678081" "0" "30" "7" "2581095" "2581095" "subst" "0.0000465921" "02326" "BRAT1_000036" "g.2581095G>A" "" "" "" "BRAT1(NM_001350626.2):c.1158C>T (p.P386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678082" "0" "30" "7" "2582974" "2582974" "subst" "0.0000863865" "02326" "BRAT1_000037" "g.2582974G>T" "" "" "" "BRAT1(NM_001350626.2):c.804-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678083" "0" "30" "7" "2583265" "2583265" "subst" "0.000331452" "02326" "BRAT1_000038" "g.2583265G>A" "" "" "" "BRAT1(NM_001350626.2):c.762C>T (p.P254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678084" "0" "30" "7" "2587051" "2587051" "subst" "0" "01943" "BRAT1_000039" "g.2587051C>T" "" "" "" "BRAT1(NM_001350626.1):c.189G>A (p.L63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689980" "0" "30" "7" "2578247" "2578247" "subst" "0.000519746" "01943" "BRAT1_000003" "g.2578247G>A" "" "" "" "BRAT1(NM_001350626.1):c.2102C>T (p.A701V), BRAT1(NM_152743.3):c.1922C>T (p.(Ala641Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689981" "0" "70" "7" "2583390" "2583390" "dup" "0" "01943" "BRAT1_000010" "g.2583390dup" "" "" "" "BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689982" "0" "50" "7" "2584692" "2584692" "subst" "0.000203628" "01943" "BRAT1_000040" "g.2584692T>A" "" "" "" "BRAT1(NM_001350626.1):c.283-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689983" "0" "30" "7" "2586949" "2586949" "subst" "0.000276596" "01943" "BRAT1_000041" "g.2586949C>T" "" "" "" "BRAT1(NM_001350626.1):c.282+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000709528" "11" "90" "7" "2583390" "2583390" "dup" "0" "03746" "BRAT1_000010" "g.2583390dup" "" "" "" "638dupA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000709529" "21" "70" "7" "2580613" "2580613" "subst" "0.0000222487" "03746" "BRAT1_000016" "g.2580613C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000721416" "0" "30" "7" "2577961" "2577961" "subst" "0.00256545" "01943" "BRAT1_000035" "g.2577961C>A" "" "" "" "BRAT1(NM_001350626.1):c.2388G>T (p.L796=), BRAT1(NM_001350626.2):c.2388G>T (p.L796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721417" "0" "30" "7" "2578000" "2578000" "subst" "0.000549768" "01943" "BRAT1_000042" "g.2578000A>T" "" "" "" "BRAT1(NM_001350626.1):c.2349T>A (p.L783=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721418" "0" "70" "7" "2578257" "2578258" "del" "0" "01943" "BRAT1_000043" "g.2578257_2578258del" "" "" "" "BRAT1(NM_001350626.1):c.2093_2094delTG (p.V698Afs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721419" "0" "30" "7" "2578307" "2578307" "subst" "0.00205769" "02326" "BRAT1_000019" "g.2578307C>T" "" "" "" "BRAT1(NM_001350626.2):c.2042G>A (p.R681Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721420" "0" "30" "7" "2578915" "2578915" "subst" "0" "01943" "BRAT1_000044" "g.2578915G>A" "" "" "" "BRAT1(NM_001350626.1):c.1668C>T (p.D556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000788898" "1" "70" "7" "2583390" "2583390" "dup" "0" "00006" "BRAT1_000010" "g.2583390dup" "" "{PMID:Srivastava 2014:25131622}" "" "638_639insA" "" "Germline" "" "" "0" "" "" "g.2543756dup" "" "likely pathogenic" "" "0000788921" "2" "70" "7" "2583223" "2583223" "subst" "0" "00006" "BRAT1_000045" "g.2583223C>G" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "Germline" "" "" "0" "" "" "g.2543589C>G" "" "likely pathogenic" "" "0000803111" "0" "50" "7" "2577941" "2577941" "subst" "0.0000205096" "02325" "BRAT1_000046" "g.2577941G>T" "" "" "" "BRAT1(NM_152743.4):c.2228C>A (p.P743H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803112" "0" "30" "7" "2582909" "2582909" "subst" "0.0000164115" "01943" "BRAT1_000047" "g.2582909C>T" "" "" "" "BRAT1(NM_001350626.1):c.852G>A (p.A284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803113" "0" "30" "7" "2583451" "2583451" "subst" "0.0000652917" "02326" "BRAT1_000048" "g.2583451G>A" "" "" "" "BRAT1(NM_152743.4):c.576C>T (p.P192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000847514" "3" "70" "7" "2583390" "2583390" "dup" "0" "00000" "BRAT1_000010" "g.2583390dup" "population-specific allele frequency: 0.50% (2/402)" "{PMID:Puffenberger 2012:22279524}" "" "BRAT1 c.638_639insA" "homozygous" "Germline" "yes" "" "0" "" "" "g.2543756dup" "" "likely pathogenic" "" "0000847515" "3" "70" "7" "2583390" "2583390" "dup" "0" "00000" "BRAT1_000010" "g.2583390dup" "population-specific allele frequency: 0.50% (2/402)" "{PMID:Puffenberger 2012:22279524}" "" "BRAT1 c.638_639insA" "homozygous" "Germline" "yes" "" "0" "" "" "g.2543756dup" "" "likely pathogenic" "" "0000847516" "3" "70" "7" "2583390" "2583390" "dup" "0" "00000" "BRAT1_000010" "g.2583390dup" "population-specific allele frequency: 0.50% (2/402)" "{PMID:Puffenberger 2012:22279524}" "" "BRAT1 c.638_639insA" "homozygous" "Germline" "yes" "" "0" "" "" "g.2543756dup" "" "likely pathogenic" "" "0000851577" "0" "50" "7" "2578197" "2578197" "subst" "0.000124413" "02326" "BRAT1_000050" "g.2578197C>T" "" "" "" "BRAT1(NM_152743.4):c.1972G>A (p.A658T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851578" "0" "90" "7" "2578567" "2578568" "del" "0" "01943" "BRAT1_000051" "g.2578567_2578568del" "" "" "" "BRAT1(NM_001350626.1):c.1781_1782delTG (p.L594Qfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851579" "0" "90" "7" "2579474" "2579474" "del" "0" "02327" "BRAT1_000052" "g.2579474del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851580" "0" "90" "7" "2583390" "2583390" "dup" "0" "02327" "BRAT1_000010" "g.2583390dup" "" "" "" "BRAT1(NM_001350626.1):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.3):c.638dupA (p.V214Gfs*189), BRAT1(NM_152743.4):c.638dupA (p.V214Gfs*189)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860729" "0" "50" "7" "2578022" "2578022" "subst" "0.00024426" "01943" "BRAT1_000049" "g.2578022G>A" "" "" "" "BRAT1(NM_001350626.1):c.2327C>T (p.A776V)" "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 BRAT1 ## Count = 66 "{{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}}" "0000259280" "00003477" "10" "128" "-10" "128" "-10" "c.128-10A>G" "r.(=)" "p.(=)" "" "0000259281" "00003477" "10" "1932" "0" "1932" "0" "c.1932A>G" "r.(?)" "p.(Arg644=)" "" "0000259282" "00003477" "10" "2388" "0" "2388" "0" "c.2388A>G" "r.(?)" "p.(Glu796=)" "" "0000259793" "00003477" "90" "1313" "0" "1314" "0" "c.1313_1314del" "r.(?)" "p.(Gln438ArgfsTer51)" "" "0000259794" "00003477" "90" "638" "0" "638" "0" "c.638dup" "r.(?)" "p.(Val214GlyfsTer189)" "" "0000331381" "00003477" "50" "1922" "0" "1922" "0" "c.1922C>T" "r.(?)" "p.(Ala641Val)" "" "0000331382" "00003477" "50" "1736" "0" "1736" "0" "c.1736C>T" "r.(?)" "p.(Ala579Val)" "" "0000331383" "00003477" "50" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Leu475Phe)" "" "0000331384" "00003477" "50" "1395" "4" "1395" "4" "c.1395+4C>T" "r.spl?" "p.?" "" "0000331386" "00003477" "50" "560" "0" "560" "0" "c.560C>G" "r.(?)" "p.(Pro187Arg)" "" "0000331387" "00003477" "30" "431" "0" "431" "0" "c.431G>A" "r.(?)" "p.(Gly144Asp)" "" "0000337633" "00003477" "10" "128" "-10" "128" "-10" "c.128-10A>G" "r.(=)" "p.(=)" "" "0000339769" "00003477" "10" "2388" "0" "2388" "0" "c.2388A>G" "r.(?)" "p.(Glu796=)" "" "0000339770" "00003477" "10" "1932" "0" "1932" "0" "c.1932A>G" "r.(?)" "p.(Arg644=)" "" "0000382839" "00003477" "90" "1395" "0" "1395" "0" "c.1395G>A" "r.(1323_1396del)" "p.(Pro442Serfs*23)" "10" "0000382840" "00003477" "90" "638" "0" "638" "0" "c.638dup" "r.(?)" "p.(Val214Glyfs*189)" "5" "0000382841" "00003477" "90" "638" "0" "638" "0" "c.638dup" "r.(?)" "p.(Val214Glyfs*189)" "5" "0000382842" "00003477" "90" "1395" "0" "1395" "0" "c.1395G>A" "r.(1323_1396del)" "p.(Pro442Serfs*23)" "10" "0000400769" "00003477" "90" "2125" "0" "2128" "0" "c.2125_2128del" "r.(?)" "p.(Phe709Thrfs*17)" "" "0000400770" "00003477" "90" "638" "0" "638" "0" "c.638dup" "r.(?)" "p.(Val214Glyfs*189)" "" "0000531740" "00003477" "30" "1659" "0" "1659" "0" "c.1659C>T" "r.(?)" "p.(Leu553=)" "" "0000531741" "00003477" "50" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Arg517Lys)" "" "0000531742" "00003477" "30" "1455" "0" "1455" "0" "c.1455C>T" "r.(?)" "p.(Pro485=)" "" "0000531743" "00003477" "50" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Arg427Gln)" "" "0000531744" "00003477" "30" "1134" "14" "1134" "14" "c.1134+14G>A" "r.(=)" "p.(=)" "" "0000531745" "00003477" "30" "866" "0" "866" "0" "c.866G>C" "r.(?)" "p.(Cys289Ser)" "" "0000531747" "00003477" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Phe225=)" "" "0000531749" "00003477" "90" "638" "0" "638" "0" "c.638dup" "r.(?)" "p.(Val214GlyfsTer189)" "" "0000611023" "00003477" "30" "962" "0" "962" "0" "c.962T>G" "r.(?)" "p.(Leu321Arg)" "" "0000611024" "00003477" "30" "883" "0" "883" "0" "c.883A>G" "r.(?)" "p.(Met295Val)" "" "0000611025" "00003477" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Val119Met)" "" "0000611026" "00003477" "30" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Ala115=)" "" "0000621874" "00003477" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Ser275=)" "" "0000652276" "00003477" "10" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Gly576Ser)" "" "0000652277" "00003477" "30" "962" "0" "962" "0" "c.962T>G" "r.(?)" "p.(Leu321Arg)" "" "0000669966" "00003477" "10" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Gly576Ser)" "" "0000669967" "00003477" "30" "962" "0" "962" "0" "c.962T>G" "r.(?)" "p.(Leu321Arg)" "" "0000678080" "00003477" "30" "2208" "0" "2208" "0" "c.2208G>T" "r.(?)" "p.(Leu736=)" "" "0000678081" "00003477" "30" "1158" "0" "1158" "0" "c.1158C>T" "r.(?)" "p.(Pro386=)" "" "0000678082" "00003477" "30" "804" "-17" "804" "-17" "c.804-17C>A" "r.(=)" "p.(=)" "" "0000678083" "00003477" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Pro254=)" "" "0000678084" "00003477" "30" "189" "0" "189" "0" "c.189G>A" "r.(?)" "p.(Leu63=)" "" "0000689980" "00003477" "30" "1922" "0" "1922" "0" "c.1922C>T" "r.(?)" "p.(Ala641Val)" "" "0000689981" "00003477" "70" "638" "0" "638" "0" "c.638dup" "r.(?)" "p.(Val214GlyfsTer189)" "" "0000689982" "00003477" "50" "283" "-2" "283" "-2" "c.283-2A>T" "r.spl?" "p.?" "" "0000689983" "00003477" "30" "282" "9" "282" "9" "c.282+9G>A" "r.(=)" "p.(=)" "" "0000709528" "00003477" "90" "638" "0" "638" "0" "c.638dup" "r.(?)" "p.(Val214Glyfs*189)" "" "0000709529" "00003477" "70" "1395" "0" "1395" "0" "c.1395G>A" "r.spl?" "p.?" "" "0000721416" "00003477" "30" "2208" "0" "2208" "0" "c.2208G>T" "r.(?)" "p.(Leu736=)" "" "0000721417" "00003477" "30" "2169" "0" "2169" "0" "c.2169T>A" "r.(?)" "p.(Leu723=)" "" "0000721418" "00003477" "70" "1913" "0" "1914" "0" "c.1913_1914del" "r.(?)" "p.(Val638Alafs*64)" "" "0000721419" "00003477" "30" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621Gln)" "" "0000721420" "00003477" "30" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Asp556=)" "" "0000788898" "00003477" "70" "638" "0" "638" "0" "c.638dup" "r.(?)" "p.(Val214GlyfsTer189)" "" "0000788921" "00003477" "70" "803" "1" "803" "1" "c.803+1G>C" "r.spl" "p.?" "" "0000803111" "00003477" "50" "2228" "0" "2228" "0" "c.2228C>A" "r.(?)" "p.(Pro743His)" "" "0000803112" "00003477" "30" "852" "0" "852" "0" "c.852G>A" "r.(?)" "p.(Ala284=)" "" "0000803113" "00003477" "30" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Pro192=)" "" "0000847514" "00003477" "70" "638" "0" "639" "0" "c.638_639insA" "r.(?)" "p.(Val214GlyfsTer189)" "" "0000847515" "00003477" "70" "638" "0" "639" "0" "c.638_639insA" "r.(?)" "p.(Val214GlyfsTer189)" "" "0000847516" "00003477" "70" "638" "0" "639" "0" "c.638_639insA" "r.(?)" "p.(Val214GlyfsTer189)" "" "0000851577" "00003477" "50" "1972" "0" "1972" "0" "c.1972G>A" "r.(?)" "p.(Ala658Thr)" "" "0000851578" "00003477" "90" "1771" "-170" "1771" "-169" "c.1771-170_1771-169del" "r.(=)" "p.(=)" "" "0000851579" "00003477" "90" "1446" "0" "1446" "0" "c.1446del" "r.(?)" "p.(Lys483Argfs*34)" "" "0000851580" "00003477" "90" "638" "0" "638" "0" "c.638dup" "r.(?)" "p.(Val214GlyfsTer189)" "" "0000860729" "00003477" "50" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Ala716Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000169813" "0000382839" "0000169813" "0000382840" "0000169814" "0000382841" "0000169814" "0000382842" "0000177895" "0000400769" "0000177895" "0000400770" "0000295587" "0000652276" "0000295588" "0000652277" "0000306278" "0000669966" "0000306279" "0000669967" "0000326283" "0000709528" "0000326283" "0000709529" "0000376843" "0000788898" "0000376843" "0000788921" "0000410238" "0000847514" "0000410239" "0000847515" "0000410240" "0000847516"