### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RBFOX1) # 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}}" "RBFOX1" "RNA binding protein, fox-1 homolog (C. elegans) 1" "16" "p13.3" "unknown" "NG_011881.2" "UD_131244972760" "" "https://www.LOVD.nl/RBFOX1" "" "1" "18222" "54715" "605104" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/RBFOX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-11-29 10:30:18" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000889" "RBFOX1" "transcript variant 5" "002" "NM_001142333.1" "" "NP_001135805.1" "" "" "" "-988" "3706" "1113" "6069132" "7763340" "00000" "2012-09-13 12:57:40" "" "" "00025681" "RBFOX1" "transcript variant 4" "002" "NM_018723.3" "" "NP_061193.2" "" "" "" "-988" "3787" "1194" "6069132" "7763340" "00006" "2022-01-21 14:18:24" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00116819" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_130:0/1:CONTROL" "00116824" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_14:0/1:CONTROL" "00116840" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_171:0/1:CONTROL" "00116867" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_228:0/1:CONTROL" "00116911" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_330:0/1:CONTROL" "00116921" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_350:0/1:CONTROL" "00116944" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_417:0/1:CONTROL" "00116973" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_483:0/1:CONTROL" "00116975" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_486:0/1:CONTROL" "00116997" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_524:0/1:CONTROL" "00117033" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_594:0/1:TYPICAL_RE" "00117039" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_603:0/1:TYPICAL_RE" "00117043" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_61:0/1:CONTROL" "00117068" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_655:0/1:TYPICAL_RE" "00117078" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_678:0/1:TYPICAL_RE" "00117095" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_718:0/1:TYPICAL_RE" "00117119" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_81:0/1:CONTROL" "00269495" "" "" "" "1" "" "00006" "{PMID:Mikhail 2011:22031302}, {DOI:Mikhail 2011:10.1002/ajmg.a.34177}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00291546" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291549" "" "" "" "158" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304536" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334680" "" "" "" "9" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00399528" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "F" "" "" "" "0" "" "" "" "Fam5Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00116819" "00000" "00116824" "00000" "00116840" "00000" "00116867" "00000" "00116911" "00000" "00116921" "00000" "00116944" "00000" "00116973" "00000" "00116975" "00000" "00116997" "00000" "00117033" "05315" "00117039" "05315" "00117043" "00000" "00117068" "05315" "00117078" "05315" "00117095" "05315" "00117119" "00000" "00269495" "00198" "00291546" "00198" "00291549" "00198" "00304536" "00198" "00334680" "04214" "00399528" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01157, 04214, 05315, 05611 ## Count = 9 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000092302" "05315" "00117033" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092306" "05315" "00117039" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092331" "05315" "00117068" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092340" "05315" "00117078" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092354" "05315" "00117095" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000207326" "00198" "00269495" "00006" "Unknown" "3y" "see paper; ..., developmental delay, no behavioral problems, no seizures, language delay, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000292633" "05611" "00399528" "00006" "Isolated (sporadic)" "11y5m" "weight 26.5 (-2), height 116 (-4.5), OFC 52 (-1); growth failure; severe developmental/intellectual delay ; not walking; speech delay, 3 y-first words, few words; hypotonia;; 3y-MRI brain normal; no cardiac anomalies; no eye anomalies; bilateral pyelectasis; normal hands; feet bilateral talipes equinovarus; scoliosis; facial dysmorphism, arched eyebrows; short nose; long philtrum; triangular mouth, arched eyebrows; short nose; long philtrum; triangular mouth; hypertrichosis" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000117287" "00116819" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117292" "00116824" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117308" "00116840" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117335" "00116867" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117379" "00116911" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117389" "00116921" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117412" "00116944" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117441" "00116973" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117443" "00116975" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117465" "00116997" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117489" "00117043" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117497" "00117119" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117513" "00117033" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117517" "00117039" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117542" "00117068" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117551" "00117078" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117565" "00117095" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000270649" "00269495" "1" "00006" "00006" "2019-11-28 19:57:10" "00006" "2019-11-29 10:27:10" "arrayCGH;FISH" "DNA" "" "" "0000292714" "00291546" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292717" "00291549" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305665" "00304536" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335909" "00334680" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000400771" "00399528" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000270649" "RBFOX1" ## 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 = 53 "{{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}}" "0000005555" "0" "50" "16" "7176749" "7176749" "subst" "0" "00037" "RBFOX1_000003" "g.7176749A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7126748A>G" "" "VUS" "" "0000010645" "3" "50" "16" "6580753" "6580753" "del" "0" "00037" "RBFOX1_000004" "g.6580753del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6530752del" "" "VUS" "" "0000010646" "3" "50" "16" "6894137" "6894137" "dup" "0" "00037" "RBFOX1_000005" "g.6894137dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6844136dup" "" "VUS" "" "0000013519" "3" "50" "16" "7718276" "7718276" "subst" "0" "00037" "RBFOX1_000002" "g.7718276T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7668274T>C" "" "VUS" "" "0000013520" "3" "50" "16" "7718287" "7718287" "subst" "0" "00037" "RBFOX1_000001" "g.7718287T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7668285T>C" "" "VUS" "" "0000188132" "0" "50" "16" "7568360" "7568360" "subst" "4.90962E-5" "02192" "RBFOX1_000007" "g.7568360C>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs371393737" "0" "" "" "g.7518358C>A" "" "VUS" "" "0000188137" "0" "50" "16" "7759119" "7759119" "subst" "0.00184876" "02192" "RBFOX1_000014" "g.7759119G>A" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs145873257" "0" "" "" "g.7709117G>A" "" "VUS" "" "0000188153" "0" "50" "16" "7759066" "7759066" "subst" "4.06454E-5" "02192" "RBFOX1_000013" "g.7759066G>A" "2/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.7709064G>A" "" "VUS" "" "0000188224" "0" "50" "16" "7629881" "7629881" "subst" "0" "02192" "RBFOX1_000008" "g.7629881C>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.7579879C>G" "" "VUS" "" "0000188234" "0" "50" "16" "7568263" "7568263" "subst" "0.000633899" "02192" "RBFOX1_000006" "g.7568263C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs151214012" "0" "" "" "g.7518261C>T" "" "VUS" "" "0000188257" "0" "50" "16" "7657307" "7657307" "subst" "6.58025E-5" "02192" "RBFOX1_000010" "g.7657307G>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs141994899" "0" "" "" "g.7607305G>C" "" "VUS" "" "0000188286" "0" "50" "16" "7759066" "7759066" "subst" "4.06454E-5" "02192" "RBFOX1_000013" "g.7759066G>A" "2/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.7709064G>A" "" "VUS" "" "0000188288" "0" "50" "16" "7680600" "7680600" "subst" "0.000520533" "02192" "RBFOX1_000011" "g.7680600C>T" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs147023054" "0" "" "" "g.7630598C>T" "" "VUS" "" "0000188310" "0" "50" "16" "7680600" "7680600" "subst" "0.000520533" "02192" "RBFOX1_000011" "g.7680600C>T" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs147023054" "0" "" "" "g.7630598C>T" "" "VUS" "" "0000188346" "0" "50" "16" "7680600" "7680600" "subst" "0.000520533" "02192" "RBFOX1_000011" "g.7680600C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs147023054" "0" "" "" "g.7630598C>T" "" "VUS" "" "0000188352" "0" "50" "16" "7759119" "7759119" "subst" "0.00184876" "02192" "RBFOX1_000014" "g.7759119G>A" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs145873257" "0" "" "" "g.7709117G>A" "" "VUS" "" "0000188356" "0" "50" "16" "7759119" "7759119" "subst" "0.00184876" "02192" "RBFOX1_000014" "g.7759119G>A" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs145873257" "0" "" "" "g.7709117G>A" "" "VUS" "" "0000188381" "0" "50" "16" "7759119" "7759119" "subst" "0.00184876" "02192" "RBFOX1_000014" "g.7759119G>A" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs145873257" "0" "" "" "g.7709117G>A" "" "VUS" "" "0000188408" "0" "50" "16" "7726824" "7726829" "del" "0" "02192" "RBFOX1_000012" "g.7726824_7726829del" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "nonframeshift_deletion" "Germline" "" "" "0" "" "" "g.7676822_7676827del" "" "VUS" "" "0000188432" "0" "50" "16" "7759119" "7759119" "subst" "0.00184876" "02192" "RBFOX1_000014" "g.7759119G>A" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs145873257" "0" "" "" "g.7709117G>A" "" "VUS" "" "0000188460" "0" "50" "16" "7680600" "7680600" "subst" "0.000520533" "02192" "RBFOX1_000011" "g.7680600C>T" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs147023054" "0" "" "" "g.7630598C>T" "" "VUS" "" "0000188536" "0" "50" "16" "7645620" "7645620" "subst" "2.55844E-5" "02192" "RBFOX1_000009" "g.7645620G>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs372761949" "0" "" "" "g.7595618G>A" "" "VUS" "" "0000324577" "0" "30" "16" "7568258" "7568258" "subst" "0.000767968" "01804" "RBFOX1_000015" "g.7568258C>A" "" "" "" "RBFOX1(NM_001142333.1):c.137C>A (p.(Pro46His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7518256C>A" "" "likely benign" "" "0000324578" "0" "50" "16" "7721591" "7721591" "subst" "4.06848E-6" "01804" "RBFOX1_000016" "g.7721591A>G" "" "" "" "RBFOX1(NM_145891.2):c.983A>G (p.(Lys328Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7671589A>G" "" "VUS" "" "0000558428" "0" "30" "16" "5289865" "5289865" "subst" "0" "01804" "RBFOX1_000018" "g.5289865G>C" "" "" "" "RBFOX1(XM_005255378.1):c.-17-6G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5239864G>C" "" "likely benign" "" "0000558429" "0" "30" "16" "5289888" "5289888" "subst" "0" "01804" "RBFOX1_000019" "g.5289888A>G" "" "" "" "RBFOX1(XM_005255378.1):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5239887A>G" "" "likely benign" "" "0000558430" "0" "30" "16" "5289896" "5289896" "subst" "0" "01804" "RBFOX1_000020" "g.5289896C>G" "" "" "" "RBFOX1(XM_005255378.1):c.9C>G (p.(Ser3Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5239895C>G" "" "likely benign" "" "0000558692" "0" "50" "16" "6367009" "6367009" "subst" "0" "02325" "RBFOX1_000024" "g.6367009G>A" "" "" "" "RBFOX1(NM_001308117.1):c.17G>A (p.R6K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6317008G>A" "" "VUS" "" "0000559154" "0" "30" "16" "7629798" "7629798" "subst" "0.00013433" "01943" "RBFOX1_000025" "g.7629798C>T" "" "" "" "RBFOX1(NM_018723.3):c.290C>T (p.P97L), RBFOX1(NM_145891.3):c.350C>T (p.P117L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579796C>T" "" "likely benign" "" "0000559162" "0" "30" "16" "7680600" "7680600" "subst" "0.000520533" "01804" "RBFOX1_000011" "g.7680600C>T" "" "" "" "RBFOX1(NM_001142334.1):c.677-5C>T (p.?), RBFOX1(NM_145891.3):c.737-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7630598C>T" "" "likely benign" "" "0000559213" "0" "50" "16" "7759066" "7759066" "subst" "4.06454E-5" "02325" "RBFOX1_000013" "g.7759066G>A" "" "" "" "RBFOX1(NM_018723.4):c.1004G>A (p.(Arg335Gln), p.R335Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7709064G>A" "" "VUS" "" "0000559214" "0" "30" "16" "7759112" "7759112" "subst" "4.88063E-5" "01804" "RBFOX1_000029" "g.7759112C>A" "" "" "" "RBFOX1(NM_001142333.1):c.969C>A (p.(=)), RBFOX1(NM_001364800.1):c.1103C>A (p.P368Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7709110C>A" "" "likely benign" "" "0000604455" "0" "70" "16" "6550763" "6904158" "del" "0" "00006" "RBFOX1_000031" "g.(6367059_6550763)_(6904158_7568148)del" "" "{PMID:Mikhail 2011:22031302}, {DOI:Mikhail 2011:10.1002/ajmg.a.34177}" "" "hg19 6,550,763-6,904,158del" "353 kb intragenic deletion; parents not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.(6317058_6500762)_(6854157_7518146)del" "" "pathogenic (dominant)" "" "0000616153" "0" "50" "16" "7759113" "7759113" "del" "0" "02327" "RBFOX1_000032" "g.7759113del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7709111del" "" "VUS" "" "0000649403" "1" "10" "16" "7568258" "7568258" "subst" "0.000767968" "03575" "RBFOX1_000015" "g.7568258C>A" "2/2774 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs113298071}" "Germline" "" "rs113298071" "0" "" "" "g.7518256C>A" "" "benign" "" "0000649406" "1" "10" "16" "7759136" "7759136" "subst" "0.0206592" "03575" "RBFOX1_000030" "g.7759136G>A" "158/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "158 heterozygous; {DB:CLININrs79369633}" "Germline" "" "rs79369633" "0" "" "" "g.7709134G>A" "" "benign" "" "0000669353" "3" "10" "16" "7759136" "7759136" "subst" "0.0206592" "03575" "RBFOX1_000030" "g.7759136G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs79369633}" "Germline" "" "rs79369633" "0" "" "" "g.7709134G>A" "" "benign" "" "0000725971" "0" "50" "16" "7629861" "7629861" "subst" "0" "02329" "RBFOX1_000026" "g.7629861G>A" "" "" "" "RBFOX1(NM_018723.4):c.353G>A (p.R118Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734821" "0" "30" "16" "7743418" "7743418" "subst" "0" "00000" "RBFOX1_000033" "g.7743418C>T" "9/25 families" "{PMID:Maranhao 2015:26352687}" "" "RBFOX1:c.1111+49C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000807596" "0" "50" "16" "7629798" "7629798" "subst" "0.00013433" "02325" "RBFOX1_000025" "g.7629798C>T" "" "" "" "RBFOX1(NM_018723.3):c.290C>T (p.P97L), RBFOX1(NM_145891.3):c.350C>T (p.P117L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833765" "0" "50" "16" "7568341" "7568341" "subst" "0.000273073" "00006" "RBFOX1_000034" "g.7568341G>C" "" "{PMID:Kury 2022:35051358}" "" "NM_145891.2:c.280G>C" "" "De novo" "" "" "0" "" "" "g.7518339G>C" "" "VUS" "" "0000854578" "0" "30" "16" "6367066" "6367066" "subst" "0" "01943" "RBFOX1_000035" "g.6367066C>T" "" "" "" "RBFOX1(NM_001364800.1):c.-64+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854652" "0" "30" "16" "7759112" "7759112" "subst" "4.88063E-5" "01943" "RBFOX1_000029" "g.7759112C>A" "" "" "" "RBFOX1(NM_001142333.1):c.969C>A (p.(=)), RBFOX1(NM_001364800.1):c.1103C>A (p.P368Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864936" "0" "70" "16" "7637291" "7637291" "subst" "0" "02327" "RBFOX1_000036" "g.7637291C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914690" "0" "30" "16" "7680600" "7680600" "subst" "0.000520533" "02325" "RBFOX1_000011" "g.7680600C>T" "" "" "" "RBFOX1(NM_001142334.1):c.677-5C>T (p.?), RBFOX1(NM_145891.3):c.737-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982093" "0" "50" "16" "7759066" "7759066" "subst" "4.06454E-5" "01804" "RBFOX1_000013" "g.7759066G>A" "" "" "" "RBFOX1(NM_018723.4):c.1004G>A (p.(Arg335Gln), p.R335Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002470" "0" "50" "16" "6367045" "6367045" "subst" "7.61951E-6" "01804" "RBFOX1_000037" "g.6367045G>T" "" "" "" "RBFOX1(NM_018723.3):c.-77G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002591" "0" "50" "16" "7726800" "7726800" "subst" "5.69388E-5" "02325" "RBFOX1_000038" "g.7726800G>A" "" "" "" "RBFOX1(NM_145891.3):c.1018G>A (p.A340T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002594" "0" "50" "16" "7759113" "7759113" "subst" "4.07083E-6" "01804" "RBFOX1_000039" "g.7759113A>C" "" "" "" "RBFOX1(NM_018723.3):c.1051A>C (p.(Thr351Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041358" "0" "30" "16" "7568263" "7568263" "subst" "0.000633899" "01804" "RBFOX1_000006" "g.7568263C>T" "" "" "" "RBFOX1(NM_018723.4):c.142C>T (p.(Pro48Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041360" "0" "50" "16" "7637249" "7637249" "subst" "0" "01804" "RBFOX1_000040" "g.7637249C>G" "" "" "" "RBFOX1(NM_018723.4):c.415C>G (p.(Gln139Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041362" "0" "30" "16" "7721555" "7721555" "subst" "0" "01804" "RBFOX1_000041" "g.7721555A>G" "" "" "" "RBFOX1(NM_145891.3):c.951-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041371" "0" "30" "16" "7759141" "7759141" "subst" "4.0791E-6" "01804" "RBFOX1_000042" "g.7759141C>G" "" "" "" "RBFOX1(NM_018723.4):c.1071+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 RBFOX1 ## Count = 104 "{{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}}" "0000005555" "00025681" "50" "27" "74650" "27" "74650" "c.27+74650A>G" "r.(=)" "p.(=)" "" "0000005555" "00000889" "50" "27" "74650" "27" "74650" "c.27+74650A>G" "r.(=)" "p.(=)" "" "0000010645" "00025681" "50" "-63" "-123851" "-63" "-123851" "c.-63-123851del" "r.(=)" "p.(=)" "" "0000010645" "00000889" "50" "-63" "-123851" "-63" "-123851" "c.-63-123851del" "r.(=)" "p.(=)" "" "0000010646" "00025681" "50" "-16" "189486" "-16" "189486" "c.-16+189486dup" "r.(=)" "p.(=)" "" "0000010646" "00000889" "50" "-16" "189486" "-16" "189486" "c.-16+189486dup" "r.(=)" "p.(=)" "" "0000013519" "00025681" "50" "930" "3306" "930" "3306" "c.930+3306T>C" "r.(=)" "p.(=)" "" "0000013519" "00000889" "50" "849" "3306" "849" "3306" "c.849+3306T>C" "r.(=)" "p.(=)" "" "0000013520" "00025681" "50" "930" "3317" "930" "3317" "c.930+3317T>C" "r.(=)" "p.(=)" "" "0000013520" "00000889" "50" "849" "3317" "849" "3317" "c.849+3317T>C" "r.(=)" "p.(=)" "" "0000188132" "00025681" "50" "239" "0" "239" "0" "c.239C>A" "r.(?)" "p.(Thr80Lys)" "" "0000188132" "00000889" "00" "239" "0" "239" "0" "c.239C>A" "r.(?)" "p.(Thr80Lys)" "" "0000188137" "00025681" "50" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Gly353Ser)" "" "0000188137" "00000889" "00" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Gly326Ser)" "" "0000188153" "00025681" "50" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Gln)" "" "0000188153" "00000889" "00" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0000188224" "00025681" "50" "373" "0" "373" "0" "c.373C>G" "r.(?)" "p.(Pro125Ala)" "" "0000188224" "00000889" "00" "373" "0" "373" "0" "c.373C>G" "r.(?)" "p.(Pro125Ala)" "" "0000188234" "00025681" "50" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Pro48Ser)" "" "0000188234" "00000889" "00" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Pro48Ser)" "" "0000188257" "00025681" "50" "643" "0" "643" "0" "c.643G>C" "r.(?)" "p.(Val215Leu)" "" "0000188257" "00000889" "00" "643" "0" "643" "0" "c.643G>C" "r.(?)" "p.(Val215Leu)" "" "0000188286" "00025681" "50" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Gln)" "" "0000188286" "00000889" "00" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0000188288" "00025681" "50" "677" "-5" "677" "-5" "c.677-5C>T" "r.spl?" "p.?" "" "0000188288" "00000889" "00" "677" "-23217" "677" "-23217" "c.677-23217C>T" "r.(=)" "p.(=)" "" "0000188310" "00025681" "50" "677" "-5" "677" "-5" "c.677-5C>T" "r.spl?" "p.?" "" "0000188310" "00000889" "00" "677" "-23217" "677" "-23217" "c.677-23217C>T" "r.(=)" "p.(=)" "" "0000188346" "00025681" "50" "677" "-5" "677" "-5" "c.677-5C>T" "r.spl?" "p.?" "" "0000188346" "00000889" "00" "677" "-23217" "677" "-23217" "c.677-23217C>T" "r.(=)" "p.(=)" "" "0000188352" "00025681" "50" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Gly353Ser)" "" "0000188352" "00000889" "00" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Gly326Ser)" "" "0000188356" "00025681" "50" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Gly353Ser)" "" "0000188356" "00000889" "00" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Gly326Ser)" "" "0000188381" "00025681" "50" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Gly353Ser)" "" "0000188381" "00000889" "00" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Gly326Ser)" "" "0000188408" "00025681" "50" "979" "0" "984" "0" "c.979_984del" "r.(?)" "p.(Ala327_Ala328del)" "" "0000188408" "00000889" "00" "898" "0" "903" "0" "c.898_903del" "r.(?)" "p.(Ala300_Ala301del)" "" "0000188432" "00025681" "50" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Gly353Ser)" "" "0000188432" "00000889" "00" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Gly326Ser)" "" "0000188460" "00025681" "50" "677" "-5" "677" "-5" "c.677-5C>T" "r.spl?" "p.?" "" "0000188460" "00000889" "00" "677" "-23217" "677" "-23217" "c.677-23217C>T" "r.(=)" "p.(=)" "" "0000188536" "00025681" "50" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Val180Met)" "" "0000188536" "00000889" "00" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Val180Met)" "" "0000324577" "00025681" "30" "137" "0" "137" "0" "c.137C>A" "r.(?)" "p.(Pro46His)" "" "0000324577" "00000889" "30" "137" "0" "137" "0" "c.137C>A" "r.(?)" "p.(Pro46His)" "" "0000324578" "00025681" "50" "931" "-5185" "931" "-5185" "c.931-5185A>G" "r.(=)" "p.(=)" "" "0000324578" "00000889" "50" "850" "-5185" "850" "-5185" "c.850-5185A>G" "r.(=)" "p.(=)" "" "0000558428" "00025681" "30" "-780255" "0" "-780255" "0" "c.-780255G>C" "r.(?)" "p.(=)" "" "0000558428" "00000889" "30" "-780255" "0" "-780255" "0" "c.-780255G>C" "r.(?)" "p.(=)" "" "0000558429" "00025681" "30" "-780232" "0" "-780232" "0" "c.-780232A>G" "r.(?)" "p.(=)" "" "0000558429" "00000889" "30" "-780232" "0" "-780232" "0" "c.-780232A>G" "r.(?)" "p.(=)" "" "0000558430" "00025681" "30" "-780224" "0" "-780224" "0" "c.-780224C>G" "r.(?)" "p.(=)" "" "0000558430" "00000889" "30" "-780224" "0" "-780224" "0" "c.-780224C>G" "r.(?)" "p.(=)" "" "0000558692" "00025681" "50" "-113" "0" "-113" "0" "c.-113G>A" "r.(?)" "p.(=)" "" "0000558692" "00000889" "50" "-113" "0" "-113" "0" "c.-113G>A" "r.(?)" "p.(=)" "" "0000559154" "00025681" "30" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Pro97Leu)" "" "0000559154" "00000889" "30" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Pro97Leu)" "" "0000559162" "00025681" "30" "677" "-5" "677" "-5" "c.677-5C>T" "r.spl?" "p.?" "" "0000559162" "00000889" "30" "677" "-23217" "677" "-23217" "c.677-23217C>T" "r.(=)" "p.(=)" "" "0000559213" "00025681" "50" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Gln)" "" "0000559213" "00000889" "50" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0000559214" "00025681" "30" "1050" "0" "1050" "0" "c.1050C>A" "r.(?)" "p.(Pro350=)" "" "0000559214" "00000889" "30" "969" "0" "969" "0" "c.969C>A" "r.(?)" "p.(Pro323=)" "" "0000604455" "00000889" "70" "-63" "-153841" "-15" "-197900" "c.(-64+1_-63-153841)_(-15-197900_28-1)del" "r.?" "p.?" "2i_4i" "0000616153" "00025681" "50" "1051" "0" "1051" "0" "c.1051del" "r.(?)" "p.(Thr351ProfsTer7)" "" "0000616153" "00000889" "50" "970" "0" "970" "0" "c.970del" "r.(?)" "p.(Thr324ProfsTer7)" "" "0000649403" "00025681" "10" "137" "0" "137" "0" "c.137C>A" "r.(?)" "p.(Pro46His)" "" "0000649403" "00000889" "10" "137" "0" "137" "0" "c.137C>A" "r.(?)" "p.(Pro46His)" "" "0000649406" "00025681" "10" "1071" "3" "1071" "3" "c.1071+3G>A" "r.spl?" "p.?" "" "0000649406" "00000889" "10" "990" "3" "990" "3" "c.990+3G>A" "r.spl?" "p.?" "" "0000669353" "00025681" "10" "1071" "3" "1071" "3" "c.1071+3G>A" "r.spl?" "p.?" "" "0000669353" "00000889" "10" "990" "3" "990" "3" "c.990+3G>A" "r.spl?" "p.?" "" "0000725971" "00025681" "50" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118Gln)" "" "0000725971" "00000889" "50" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118Gln)" "" "0000734821" "00025681" "30" "996" "-15640" "996" "-15640" "c.996-15640C>T" "r.(=)" "p.(=)" "" "0000734821" "00000889" "30" "915" "-15640" "915" "-15640" "c.915-15640C>T" "r.(=)" "p.(=)" "" "0000807596" "00025681" "50" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Pro97Leu)" "" "0000807596" "00000889" "50" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Pro97Leu)" "" "0000833765" "00000889" "50" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.(Glu74Gln)" "" "0000854578" "00025681" "30" "-64" "8" "-64" "8" "c.-64+8C>T" "r.(=)" "p.(=)" "" "0000854578" "00000889" "30" "-64" "8" "-64" "8" "c.-64+8C>T" "r.(=)" "p.(=)" "" "0000854652" "00025681" "30" "1050" "0" "1050" "0" "c.1050C>A" "r.(?)" "p.(Pro350=)" "" "0000854652" "00000889" "30" "969" "0" "969" "0" "c.969C>A" "r.(?)" "p.(Pro323=)" "" "0000864936" "00025681" "70" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153*)" "" "0000864936" "00000889" "70" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153*)" "" "0000914690" "00025681" "30" "677" "-5" "677" "-5" "c.677-5C>T" "r.spl?" "p.?" "" "0000914690" "00000889" "30" "677" "-23217" "677" "-23217" "c.677-23217C>T" "r.(=)" "p.(=)" "" "0000982093" "00025681" "50" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Gln)" "" "0000982093" "00000889" "50" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0001002470" "00025681" "50" "-77" "0" "-77" "0" "c.-77G>T" "r.(?)" "p.(=)" "" "0001002470" "00000889" "50" "-77" "0" "-77" "0" "c.-77G>T" "r.(?)" "p.(=)" "" "0001002591" "00025681" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Ala319Thr)" "" "0001002591" "00000889" "50" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Ala292Thr)" "" "0001002594" "00025681" "50" "1051" "0" "1051" "0" "c.1051A>C" "r.(?)" "p.(Thr351Pro)" "" "0001002594" "00000889" "50" "970" "0" "970" "0" "c.970A>C" "r.(?)" "p.(Thr324Pro)" "" "0001041358" "00025681" "30" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Pro48Ser)" "" "0001041358" "00000889" "30" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Pro48Ser)" "" "0001041360" "00025681" "50" "415" "0" "415" "0" "c.415C>G" "r.(?)" "p.(Gln139Glu)" "" "0001041360" "00000889" "50" "415" "0" "415" "0" "c.415C>G" "r.(?)" "p.(Gln139Glu)" "" "0001041362" "00025681" "30" "931" "-5221" "931" "-5221" "c.931-5221A>G" "r.(=)" "p.(=)" "" "0001041362" "00000889" "30" "850" "-5221" "850" "-5221" "c.850-5221A>G" "r.(=)" "p.(=)" "" "0001041371" "00025681" "30" "1071" "8" "1071" "8" "c.1071+8C>G" "r.(=)" "p.(=)" "" "0001041371" "00000889" "30" "990" "8" "990" "8" "c.990+8C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005555" "0000000210" "0000010645" "0000000210" "0000010646" "0000000210" "0000013519" "0000000210" "0000013520" "0000117287" "0000188132" "0000117292" "0000188137" "0000117308" "0000188153" "0000117335" "0000188460" "0000117379" "0000188224" "0000117389" "0000188234" "0000117412" "0000188257" "0000117441" "0000188286" "0000117443" "0000188288" "0000117465" "0000188310" "0000117489" "0000188356" "0000117497" "0000188432" "0000117513" "0000188346" "0000117517" "0000188352" "0000117542" "0000188381" "0000117551" "0000188536" "0000117565" "0000188408" "0000270649" "0000604455" "0000292714" "0000649403" "0000292717" "0000649406" "0000305665" "0000669353" "0000335909" "0000734821" "0000400771" "0000833765"