### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RFX6) # 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}}" "RFX6" "regulatory factor X, 6" "6" "q22.31" "unknown" "NG_027699.1" "UD_132085273189" "" "http://www.LOVD.nl/RFX6" "" "1" "21478" "222546" "612659" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RFX6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-11-19 06:58:29" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017676" "RFX6" "regulatory factor X, 6" "001" "NM_173560.3" "" "NP_775831.2" "" "" "" "-63" "3444" "2787" "117198376" "117253326" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "04057" "MTCHRS" "Mitchell-Riley syndrome (MTCHRS)" "AR" "615710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RFX6" "04057" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00054777" "" "" "" "2" "" "01454" "{PMID:Skopkova 2016:27523286}" "family, 2 affected sisters" "F" "no" "Slovakia (Slovak Republic)" ">08y" "0" "" "" "white" "sister1" "00054834" "" "" "00054777" "1" "" "01454" "{PMID:Skopkova 2016:27523286}" "" "F" "no" "Slovakia (Slovak Republic)" ">13y" "0" "" "" "white" "sister 2" "00054856" "" "" "" "2" "" "00006" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}, {PMID:Mitchell 2004:15592663}" "4-generation family, 2 affected sibs (F, M), unaffected heterozugous carrier parents (2nd cousins)" "F" "yes" "Pakistan" "00y06m15d" "0" "" "" "" "" "00054857" "" "" "" "1" "" "00006" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (1st-degree cousins)" "F" "yes" "Pakistan" ">04y06m" "0" "" "" "" "" "00054858" "" "" "" "1" "" "00006" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}" "chld from in vitro fertilisation (donated egg)" "F" "no" "" ">09y" "0" "" "" "" "" "00054859" "" "" "" "1" "" "00006" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "00y02m15d" "0" "" "" "" "" "00054860" "" "" "" "1" "" "00006" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "?" "Belgium" "00y03m" "0" "" "" "Morrocan" "" "00057179" "" "" "" "1" "" "01454" "{PMID:Skopkova 2016:27523286}" "" "F" "?" "Slovakia (Slovak Republic)" ">34y" "0" "" "" "white" "" "00106138" "" "" "" "1" "" "01454" "{PMID:Spiegel 2011:21965172}" "" "M" "?" "Israel" ">01y09m" "0" "" "" "Arab" "patient 1" "00106140" "" "" "" "1" "" "01454" "{PMID:Conception 2014:23914949}" "" "M" "no" "Viet Nam" "00y05m" "0" "" "" "" "" "00106163" "" "" "" "1" "" "01454" "{PMID:Chandra 2014:25497100}" "" "F" "" "India" ">06y" "0" "" "" "" "" "00106164" "" "" "" "2" "" "01454" "{PMID:Sansbury 2015:26264437}" "1 family, 2 patients - double first cousins, a female and a male" "" "yes" "Turkey" ">09y" "0" "" "" "" "" "00106165" "" "" "" "1" "" "01454" "{PMID:Zegre Amorim 2015:26770845}" "" "F" "yes" "Portugal" ">00y07m" "0" "" "" "gypsy" "" "00293965" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293966" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00435594" "" "" "" "1" "" "00006" "{PMID:Edraki 2023:36895461}" "" "F" "" "Iran" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00054777" "04057" "00054834" "04057" "00054856" "04057" "00054857" "04057" "00054858" "04057" "00054859" "04057" "00054860" "04057" "00057179" "00000" "00106138" "04057" "00106140" "04057" "00106163" "04057" "00106164" "04057" "00106165" "04057" "00293965" "00198" "00293966" "00198" "00435594" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04057 ## Count = 13 "{{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}}" "0000041454" "04057" "00054777" "01454" "Familial, autosomal recessive" "08y" "" "00y00m" "" "" "" "" "" "" "" "" "" "" "0000041505" "04057" "00054834" "01454" "Familial, autosomal recessive" "13y" "" "00y00m" "" "" "" "" "" "" "" "" "" "" "0000041519" "04057" "00054856" "00006" "Familial, autosomal recessive" "" "see paper; born 34w induced delivery (poor fetal growth,<3rd percentile), prenatal ultrasound duodenal atresia (1d-confirmed by surgery and jejunal atresia, annular pancreas, gall bladder agenesis; 2d-neonatal diabetes (39h), hyperglycemia, low insulin/C-peptide levels; liver failure, liver biopsy revealed cholestasis consistent with TPN and/or extrahepatic biliary obstruction; 194d died multi-organ failure; ..." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000041520" "04057" "00054857" "00006" "Isolated (sporadic)" "" "born 35w, small (2nd percentile); 1d-duodenal atresia surgically corrected, gall bladder agenesis noted during surgery; 8d-insulin treatment after persistent hyperglycemia with low C-peptide levels, normal feeding but failed to thrive, developed hyperbilirubinemia; liver biopsy cholestatic disease, no biliary atresia on cholangiography but portal areas oedematous/narrowed by bile plugs; 11m-hyperbilirubinemia gradually resolved without signs liver disease; 4y6m-alive, insulin dependent" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000041521" "04057" "00054858" "00006" "Isolated (sporadic)" "" "in vitro fertilization donated egg; born 39w, small; prenatal ultrasoun suspected duodenal atresia; 2d-laparoscopy revealing malrotation,duodenal web necessitating lysis of bands, during hospitalization developed hyperglycemia, received insulin briefly; 1.5m-readmitted hyperbilirubinemia, failure to thrive, hyperglycemia requiring insulin, low C-peptide levels; liver biopsy consistent with cholestatic disease, normal intra/extra-hepatic ducts; 9y-alive, insulin dependent (small dose)" "" "" "" "" "" "" "" "" "" "" "" "0000041522" "04057" "00054859" "00006" "Isolated (sporadic)" "" "born 35w, small (<10th percentile); prenatal ultrasound poor fetal growth, duodenal atresia; 9d-duodenal atresia surgery; 2d-neonatal diabetes, hyperglycemia undetectable insulin/C-peptide levels; refractory ascites, sepsis, gastrointestinal hemorrhage causing death 2.5m; mother gestational diabetes, fatehr diabetes diagnosed as type 1" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000041523" "04057" "00054860" "00006" "Isolated (sporadic)" "" "intestinal atresia, intestinal malrotation, intrauterine growth restriction, gall bladder agenesis, hemochromatosis; 3d-insulin treatment, low C-peptide levels were low; 3m-died" "?" "" "" "" "" "" "" "" "" "" "" "0000083950" "04057" "00106138" "01454" "Familial, autosomal recessive" "" "insulin dependent diabetes mellitus, duodenal and jejunal atresia, intestinal malrotation, gall bladder agenesis, cholestasis, annulat pancreas, malabsorption unresponsive to pancreatic supplements, intractable diarrhea, neonatal anemia" "00y00m01d" "01y09m" "" "" "" "" "" "" "" "" "" "0000083951" "04057" "00106140" "01454" "Familial, autosomal recessive" "" "duodenal atresia, intestinal malrotation, jejunal perforation, diarrhea unresponsive to pancreatic supplements, gall bladder agenesis, cholestasis, anular pancreas, fluctuating glycemia" "" "" "" "" "" "" "" "" "" "" "" "0000083954" "04057" "00106163" "01454" "Familial, autosomal recessive" "" "diabetes mellitus, duodenal stenosis, jejunal atresia, neonatal chronic diarrhea, pancreas hypoplasia, gall bladder agenesis, chronic anemia" "" "00y00m01d" "" "" "" "" "" "" "" "" "" "0000083956" "04057" "00106164" "01454" "Familial, autosomal recessive" "" "diabetes mellitus, duodenal atresia, jejunal web, Meckel\'s diverticulum, GI bleeding, heterotopy of gastric mucosa within the small bowel, gall bladder agenesis, anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083964" "04057" "00106165" "01454" "Familial, autosomal recessive" "" "diabetes mellitus, duodenal atresia, intestinal malrotation, ectopic pancreatic tissue in jejunum, unresponsive diarrhea, gall bladder agenesis, anular pancreas, anemia, anteriorly placed anus" "" "" "" "" "" "" "" "" "" "" "" "0000325779" "00198" "00435594" "00006" "Unknown" "" "see paper; ..., congenital left ventricular diverticulum; birth 35w; 1d-pulsatile umbilical mass; clinical course deteriorated after developing sepsis and multiorgan failure; passed away before any corrective surgery; post-mortem severe hepatic macrovesicular steatosis (suggestive of metabolic liver disease)" "" "" "" "" "" "" "" "" "" "left ventricular diverticulum" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054725" "00054777" "1" "01454" "01454" "2015-11-18 13:31:25" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000054783" "00054777" "1" "01454" "01454" "2015-11-26 15:42:26" "" "" "SEQ" "DNA" "blood" "" "0000054784" "00054834" "1" "01454" "01454" "2015-11-26 15:50:37" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000054799" "00054834" "1" "01454" "01454" "2015-11-27 09:09:01" "" "" "SEQ" "DNA" "blood" "" "0000054807" "00054856" "1" "00006" "00006" "2015-11-28 11:28:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000054808" "00054857" "1" "00006" "00006" "2015-11-28 11:46:51" "" "" "SEQ" "DNA" "" "" "0000054809" "00054858" "1" "00006" "00006" "2015-11-28 12:06:21" "" "" "SEQ" "DNA" "" "" "0000054810" "00054859" "1" "00006" "00006" "2015-11-28 12:33:43" "" "" "SEQ" "DNA" "" "" "0000054811" "00054860" "1" "00006" "00006" "2015-11-28 12:50:28" "" "" "SEQ" "DNA" "" "" "0000057140" "00057179" "1" "01454" "01454" "2016-01-14 15:05:01" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000057141" "00057179" "1" "01454" "01454" "2016-01-14 15:14:40" "" "" "SEQ" "DNA" "blood" "" "0000106609" "00106138" "1" "01454" "01454" "2017-06-30 11:16:23" "" "" "SEQ" "DNA" "peripheral blood" "" "0000106610" "00106140" "1" "01454" "01454" "2017-06-30 11:38:37" "" "" "SEQ-NG-S" "DNA" "" "" "0000106632" "00106163" "1" "01454" "01454" "2017-06-30 12:33:48" "" "" "SEQ" "DNA" "" "" "0000106633" "00106164" "1" "01454" "01454" "2017-06-30 13:01:10" "" "" "SEQ" "DNA" "" "" "0000106634" "00106165" "1" "01454" "01454" "2017-06-30 13:15:42" "" "" "SEQ" "DNA" "" "" "0000295133" "00293965" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295134" "00293966" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000437075" "00435594" "1" "00006" "00006" "2023-08-05 17:23:25" "" "" "SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000054783" "RFX6" "0000054799" "RFX6" "0000054807" "RFX6" "0000054808" "RFX6" "0000054809" "RFX6" "0000054810" "RFX6" "0000054811" "RFX6" "0000057141" "RFX6" "0000106609" "RFX6" "0000106632" "RFX6" "0000106633" "RFX6" "0000106634" "RFX6" ## 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 = 164 "{{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}}" "0000084712" "21" "99" "6" "117240431" "117240431" "subst" "8.13994E-6" "01454" "RFX6_000001" "g.117240431G>A" "" "{PMID:Skopkova et al. 2016:27523286}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116919268G>A" "" "pathogenic" "" "0000084713" "11" "99" "6" "117241606" "117241609" "del" "0" "01454" "RFX6_000002" "g.117241606_117241609del" "" "{PMID:Skopkova et al. 2016:27523286}" "" "1316_1319delTCTA" "" "Germline" "yes" "" "0" "" "" "g.116920443_116920446del" "" "pathogenic" "" "0000084796" "21" "99" "6" "117240431" "117240431" "subst" "8.13994E-6" "01454" "RFX6_000001" "g.117240431G>A" "" "{PMID:Skopkova et al. 2016:27523286}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116919268G>A" "" "pathogenic" "" "0000084812" "11" "99" "6" "117241606" "117241609" "del" "0" "01454" "RFX6_000002" "g.117241606_117241609del" "" "{PMID:Skopkova et al. 2016:27523286}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116920443_116920446del" "" "pathogenic" "" "0000084820" "3" "99" "6" "117199117" "117199117" "subst" "0" "00006" "RFX6_000004" "g.117199117T>C" "1/6 cases" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}, {OMIM612659:0001}" "" "IVS2+2T>C" "homozygosity mapping 2 sibs" "Germline" "yes" "rs587776514" "0" "" "" "g.116877954T>C" "" "pathogenic" "" "0000084821" "3" "99" "6" "117216347" "117216347" "subst" "0" "00006" "RFX6_000003" "g.117216347T>C" "1/6 cases" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}, {OMIM612659:0004}" "" "NCBI b35 g.117323040T>C" "" "Germline" "yes" "rs267607012" "0" "" "" "g.116895184T>C" "" "pathogenic" "" "0000084822" "1" "99" "6" "117216372" "117216372" "subst" "0" "00006" "RFX6_000005" "g.117216372T>G" "1/6 cases" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}, {OMIM612659:0003}" "" "IVS6+2T>G" "" "Germline" "yes" "rs587776516" "0" "" "" "g.116895209T>G" "" "pathogenic" "" "0000084823" "2" "97" "6" "117198947" "117198947" "subst" "4.06124E-6" "00006" "RFX6_000006" "g.117198947A>G" "1/6 cases" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}, {OMIM612659:0002}" "" "IVS1-12A>G" "" "Germline" "yes" "rs587776515" "0" "" "" "g.116877784A>G" "" "pathogenic" "" "0000084824" "3" "99" "6" "117232202" "117232216" "del" "0" "00006" "RFX6_000007" "g.117232202_117232216del" "1/6 cases" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}, {OMIM612659:0006}" "" "ACAAGgtatcaat del" "deletion acc. Fig.5 ACAAGgtatcaatt (1 longer)" "Germline" "yes" "" "0" "" "" "g.116911039_116911053del" "" "pathogenic" "" "0000084825" "3" "90" "6" "117203567" "117203567" "subst" "0" "00006" "RFX6_000008" "g.117203567G>A" "1/6 cases" "{PMID:Smith 2010:20148032}, {DOI:Smith 2010:10.1038/nature08748}, {OMIM612659:0005}" "" "G>A R181Q" "" "Germline" "yes" "rs267607013" "0" "" "" "g.116882404G>A" "" "pathogenic" "" "0000087428" "0" "11" "6" "117199048" "117199048" "subst" "8.12143E-6" "01454" "RFX6_000009" "g.117199048T>G" "" "{PMID:Skopkova et al. 2016:27523286}" "" "" "" "Unknown" "?" "" "0" "" "" "g.116877885T>G" "" "benign" "" "0000087429" "0" "99" "6" "117240431" "117240431" "subst" "8.13994E-6" "01454" "RFX6_000001" "g.117240431G>A" "" "{PMID:Skopkova et al. 2016:27523286}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.116919268G>A" "" "pathogenic" "" "0000172296" "3" "99" "6" "117237169" "117237177" "delins" "0" "01454" "RFX6_000010" "g.117237169_117237177delinsG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.116916006_116916014delinsG" "" "pathogenic" "" "0000172297" "3" "99" "6" "117232204" "117232204" "subst" "0" "01454" "RFX6_000011" "g.117232204A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.116911041A>C" "" "pathogenic" "" "0000172344" "3" "99" "6" "117244349" "117244349" "subst" "0" "01454" "RFX6_000012" "g.117244349T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.116923186T>G" "" "pathogenic" "" "0000172345" "21" "99" "6" "117248480" "117248480" "subst" "4.06841E-6" "01454" "RFX6_000013" "g.117248480C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.116927317C>T" "" "pathogenic" "" "0000172346" "11" "99" "6" "117250119" "117250119" "subst" "4.06306E-6" "01454" "RFX6_000014" "g.117250119C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.116928956C>T" "" "pathogenic" "" "0000172347" "3" "99" "6" "117203566" "117203566" "subst" "4.06385E-6" "01454" "RFX6_000015" "g.117203566C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.116882403C>T" "" "pathogenic" "" "0000299314" "0" "50" "6" "117249922" "117249922" "subst" "0.000820931" "02329" "RFX6_000020" "g.117249922G>C" "" "" "" "RFX6(NM_173560.3):c.2399G>C (p.G800A, p.(Gly800Ala)), RFX6(NM_173560.4):c.2399G>C (p.G800A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116928759G>C" "" "VUS" "" "0000307043" "0" "30" "6" "117198561" "117198561" "subst" "9.11442E-5" "01943" "RFX6_000016" "g.117198561G>A" "" "" "" "RFX6(NM_173560.3):c.123G>A (p.P41=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116877398G>A" "" "likely benign" "" "0000307044" "0" "33" "6" "117246670" "117246670" "subst" "0.00233008" "01943" "RFX6_000018" "g.117246670G>C" "" "" "" "RFX6(NM_173560.3):c.1733G>C (p.R578P, p.(Arg578Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116925507G>C" "" "likely benign" "" "0000307045" "0" "30" "6" "117248343" "117248343" "subst" "0.00118634" "01943" "RFX6_000019" "g.117248343C>A" "" "" "" "RFX6(NM_173560.3):c.2039C>A (p.T680K, p.(Thr680Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116927180C>A" "" "likely benign" "" "0000331174" "0" "30" "6" "117243322" "117243322" "subst" "0.000260366" "01804" "RFX6_000017" "g.117243322T>A" "" "" "" "RFX6(NM_173560.3):c.1437+8T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116922159T>A" "" "likely benign" "" "0000526955" "0" "30" "6" "117198450" "117198450" "subst" "4.22037E-6" "01804" "RFX6_000021" "g.117198450C>G" "" "" "" "RFX6(NM_173560.3):c.12C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116877287C>G" "" "likely benign" "" "0000526956" "0" "30" "6" "117198488" "117198488" "subst" "0.00589547" "01804" "RFX6_000022" "g.117198488C>A" "" "" "" "RFX6(NM_173560.3):c.50C>A (p.(Ala17Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116877325C>A" "" "likely benign" "" "0000526957" "0" "30" "6" "117198500" "117198500" "subst" "0.000580099" "01804" "RFX6_000023" "g.117198500C>A" "" "" "" "RFX6(NM_173560.3):c.62C>A (p.(Ser21Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116877337C>A" "" "likely benign" "" "0000526958" "0" "30" "6" "117198571" "117198571" "subst" "1.75934E-5" "01804" "RFX6_000024" "g.117198571G>A" "" "" "" "RFX6(NM_173560.3):c.133G>A (p.(Val45Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116877408G>A" "" "likely benign" "" "0000526959" "0" "30" "6" "117198648" "117198648" "subst" "0.000685845" "01804" "RFX6_000025" "g.117198648G>A" "" "" "" "RFX6(NM_173560.3):c.210G>A (p.(Gly70=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116877485G>A" "" "likely benign" "" "0000526960" "0" "30" "6" "117198661" "117198661" "subst" "0.00142747" "01804" "RFX6_000026" "g.117198661G>C" "" "" "" "RFX6(NM_173560.3):c.223G>C (p.(Glu75Gln)), RFX6(NM_173560.4):c.223G>C (p.E75Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116877498G>C" "" "likely benign" "" "0000526961" "0" "30" "6" "117198667" "117198667" "subst" "0.000485185" "01804" "RFX6_000027" "g.117198667T>G" "" "" "" "RFX6(NM_173560.3):c.223+6T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116877504T>G" "" "likely benign" "" "0000526962" "0" "50" "6" "117199061" "117199061" "subst" "4.06068E-5" "01804" "RFX6_000028" "g.117199061C>T" "" "" "" "RFX6(NM_173560.3):c.326C>T (p.(Thr109Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116877898C>T" "" "VUS" "" "0000526963" "0" "30" "6" "117203600" "117203600" "subst" "4.06534E-5" "01804" "RFX6_000029" "g.117203600C>A" "" "" "" "RFX6(NM_173560.3):c.566+9C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116882437C>A" "" "likely benign" "" "0000526964" "0" "30" "6" "117215202" "117215202" "subst" "1.62578E-5" "01804" "RFX6_000030" "g.117215202G>A" "" "" "" "RFX6(NM_173560.3):c.619G>A (p.(Val207Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116894039G>A" "" "likely benign" "" "0000526966" "0" "30" "6" "117240455" "117240455" "subst" "4.07226E-6" "01804" "RFX6_000032" "g.117240455C>T" "" "" "" "RFX6(NM_173560.3):c.1178C>T (p.(Ala393Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116919292C>T" "" "likely benign" "" "0000526967" "0" "30" "6" "117241459" "117241459" "subst" "2.03401E-5" "01804" "RFX6_000033" "g.117241459C>T" "" "" "" "RFX6(NM_173560.3):c.1183-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116920296C>T" "" "likely benign" "" "0000526968" "0" "30" "6" "117241468" "117241468" "subst" "0.000304992" "01804" "RFX6_000034" "g.117241468T>C" "" "" "" "RFX6(NM_173560.3):c.1183-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116920305T>C" "" "likely benign" "" "0000526969" "0" "30" "6" "117241515" "117241515" "subst" "4.06435E-6" "01804" "RFX6_000035" "g.117241515A>G" "" "" "" "RFX6(NM_173560.3):c.1225A>G (p.(Met409Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116920352A>G" "" "likely benign" "" "0000526971" "0" "10" "6" "117241617" "117241617" "subst" "0.00359034" "01804" "RFX6_000037" "g.117241617C>T" "" "" "" "RFX6(NM_173560.3):c.1327C>T (p.(His443Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116920454C>T" "" "benign" "" "0000526972" "0" "30" "6" "117243195" "117243195" "subst" "0.0156829" "01804" "RFX6_000038" "g.117243195T>C" "" "" "" "RFX6(NM_173560.3):c.1328-10T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116922032T>C" "" "likely benign" "" "0000526973" "0" "10" "6" "117243195" "117243195" "del" "0" "01804" "RFX6_000039" "g.117243195del" "" "" "" "RFX6(NM_173560.3):c.1328-10del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116922032del" "" "benign" "" "0000526974" "0" "30" "6" "117243196" "117243196" "subst" "0" "01804" "RFX6_000040" "g.117243196C>T" "" "" "" "RFX6(NM_173560.3):c.1328-9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116922033C>T" "" "likely benign" "" "0000526975" "0" "30" "6" "117243197" "117243197" "subst" "0" "01804" "RFX6_000041" "g.117243197C>T" "" "" "" "RFX6(NM_173560.3):c.1328-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116922034C>T" "" "likely benign" "" "0000526976" "0" "30" "6" "117243199" "117243199" "subst" "0" "01804" "RFX6_000042" "g.117243199G>T" "" "" "" "RFX6(NM_173560.3):c.1328-6G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116922036G>T" "" "likely benign" "" "0000526977" "0" "50" "6" "117243252" "117243252" "subst" "0" "01943" "RFX6_000043" "g.117243252A>T" "" "" "" "RFX6(NM_173560.3):c.1375A>T (p.N459Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116922089A>T" "" "VUS" "" "0000526978" "0" "30" "6" "117245962" "117245962" "subst" "0.000370413" "01804" "RFX6_000044" "g.117245962A>G" "" "" "" "RFX6(NM_173560.3):c.1678+8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116924799A>G" "" "likely benign" "" "0000526979" "0" "33" "6" "117246670" "117246670" "subst" "0.00233008" "01804" "RFX6_000018" "g.117246670G>C" "" "" "" "RFX6(NM_173560.3):c.1733G>C (p.R578P, p.(Arg578Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116925507G>C" "" "likely benign" "" "0000526980" "0" "30" "6" "117248343" "117248343" "subst" "0.00118634" "01804" "RFX6_000019" "g.117248343C>A" "" "" "" "RFX6(NM_173560.3):c.2039C>A (p.T680K, p.(Thr680Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116927180C>A" "" "likely benign" "" "0000526981" "0" "10" "6" "117248470" "117248470" "subst" "0.00316862" "01804" "RFX6_000045" "g.117248470C>T" "" "" "" "RFX6(NM_173560.3):c.2166C>T (p.(Thr722=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116927307C>T" "" "benign" "" "0000526983" "0" "30" "6" "117248710" "117248710" "subst" "0.0156525" "01804" "RFX6_000047" "g.117248710T>C" "" "" "" "RFX6(NM_173560.3):c.2398+8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116927547T>C" "" "likely benign" "" "0000526984" "0" "30" "6" "117249922" "117249922" "subst" "0.000820931" "01804" "RFX6_000020" "g.117249922G>C" "" "" "" "RFX6(NM_173560.3):c.2399G>C (p.G800A, p.(Gly800Ala)), RFX6(NM_173560.4):c.2399G>C (p.G800A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116928759G>C" "" "likely benign" "" "0000526986" "0" "30" "6" "117250084" "117250084" "subst" "0.000885545" "01804" "RFX6_000049" "g.117250084C>T" "" "" "" "RFX6(NM_173560.3):c.2561C>T (p.(Ser854Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116928921C>T" "" "likely benign" "" "0000526987" "0" "70" "6" "117250119" "117250119" "subst" "4.06306E-6" "01804" "RFX6_000014" "g.117250119C>T" "" "" "" "RFX6(NM_173560.3):c.2596C>T (p.(Arg866*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116928956C>T" "" "likely pathogenic" "" "0000526988" "0" "30" "6" "117252598" "117252598" "subst" "2.03548E-5" "01804" "RFX6_000050" "g.117252598A>C" "" "" "" "RFX6(NM_173560.3):c.2716A>C (p.(Ser906Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116931435A>C" "" "likely benign" "" "0000526989" "0" "50" "6" "117252625" "117252625" "subst" "0" "01804" "RFX6_000051" "g.117252625C>T" "" "" "" "RFX6(NM_173560.3):c.2743C>T (p.(Pro915Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116931462C>T" "" "VUS" "" "0000609953" "0" "30" "6" "117198661" "117198661" "subst" "0.00142747" "02325" "RFX6_000026" "g.117198661G>C" "" "" "" "RFX6(NM_173560.3):c.223G>C (p.(Glu75Gln)), RFX6(NM_173560.4):c.223G>C (p.E75Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116877498G>C" "" "likely benign" "" "0000621621" "0" "50" "6" "117250057" "117250057" "subst" "0" "02325" "RFX6_000052" "g.117250057A>G" "" "" "" "RFX6(NM_173560.4):c.2534A>G (p.D845G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116928894A>G" "" "VUS" "" "0000651822" "1" "53" "6" "117246670" "117246670" "subst" "0.00233008" "03575" "RFX6_000018" "g.117246670G>C" "7/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs146115506}" "Germline" "" "rs146115506" "0" "" "" "g.116925507G>C" "RCV000871672" "VUS" "" "0000651823" "1" "30" "6" "117248673" "117248673" "subst" "0.000360747" "03575" "RFX6_000053" "g.117248673G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs57924353}" "Germline" "" "rs57924353" "0" "" "" "g.116927510G>A" "" "likely benign" "" "0000720646" "0" "30" "6" "117245914" "117245914" "subst" "0" "01804" "RFX6_000054" "g.117245914G>A" "" "" "" "RFX6(NM_173560.3):c.1638G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720647" "0" "50" "6" "117249922" "117249922" "subst" "0.000820931" "01943" "RFX6_000020" "g.117249922G>C" "" "" "" "RFX6(NM_173560.3):c.2399G>C (p.G800A, p.(Gly800Ala)), RFX6(NM_173560.4):c.2399G>C (p.G800A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802278" "0" "30" "6" "117245823" "117245823" "subst" "0.000727364" "01943" "RFX6_000055" "g.117245823A>T" "" "" "" "RFX6(NM_173560.3):c.1556-9A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860085" "0" "30" "6" "117198453" "117198453" "subst" "0" "01804" "RFX6_000056" "g.117198453G>A" "" "" "" "RFX6(NM_173560.3):c.15G>A (p.(Pro5=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860086" "0" "30" "6" "117199131" "117199131" "subst" "2.03184E-5" "01804" "RFX6_000057" "g.117199131A>G" "" "" "" "RFX6(NM_173560.3):c.380+16A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860087" "0" "30" "6" "117201744" "117201744" "subst" "8.9508E-5" "01804" "RFX6_000058" "g.117201744T>C" "" "" "" "RFX6(NM_173560.3):c.418T>C (p.(Leu140=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860088" "0" "50" "6" "117201750" "117201750" "subst" "4.06865E-6" "01804" "RFX6_000059" "g.117201750C>T" "" "" "" "RFX6(NM_173560.3):c.424C>T (p.(Arg142Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860089" "0" "30" "6" "117201764" "117201764" "subst" "0" "01804" "RFX6_000060" "g.117201764T>C" "" "" "" "RFX6(NM_173560.3):c.438T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860090" "0" "30" "6" "117203521" "117203521" "subst" "0.000589431" "01804" "RFX6_000061" "g.117203521T>C" "" "" "" "RFX6(NM_173560.3):c.505-9T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860091" "0" "30" "6" "117203565" "117203565" "subst" "0.000142235" "01804" "RFX6_000062" "g.117203565G>A" "" "" "" "RFX6(NM_173560.3):c.540G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860092" "0" "50" "6" "117215154" "117215154" "subst" "0" "01804" "RFX6_000063" "g.117215154C>T" "" "" "" "RFX6(NM_173560.3):c.571C>T (p.(His191Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860093" "0" "30" "6" "117232095" "117232095" "subst" "0.000598169" "01804" "RFX6_000064" "g.117232095T>C" "" "" "" "RFX6(NM_173560.3):c.673-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860094" "0" "30" "6" "117232121" "117232121" "subst" "2.03403E-5" "01804" "RFX6_000065" "g.117232121G>A" "" "" "" "RFX6(NM_173560.3):c.696G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860095" "0" "50" "6" "117232135" "117232135" "subst" "0" "01804" "RFX6_000066" "g.117232135C>T" "" "" "" "RFX6(NM_173560.3):c.710C>T (p.(Thr237Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860096" "0" "30" "6" "117232142" "117232142" "subst" "1.62719E-5" "01804" "RFX6_000067" "g.117232142A>G" "" "" "" "RFX6(NM_173560.3):c.717A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860097" "0" "30" "6" "117232160" "117232160" "subst" "3.255E-5" "01804" "RFX6_000068" "g.117232160C>G" "" "" "" "RFX6(NM_173560.3):c.735C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860098" "0" "30" "6" "117237165" "117237165" "subst" "8.14279E-6" "01804" "RFX6_000069" "g.117237165A>T" "" "" "" "RFX6(NM_173560.3):c.781-6A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860099" "0" "10" "6" "117239212" "117239212" "subst" "0.00607479" "01804" "RFX6_000070" "g.117239212G>A" "" "" "" "RFX6(NM_173560.3):c.985G>A (p.(Val329Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860100" "0" "50" "6" "117240313" "117240313" "subst" "4.06736E-6" "01804" "RFX6_000071" "g.117240313A>G" "" "" "" "RFX6(NM_173560.3):c.1036A>G (p.(Ile346Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860101" "0" "70" "6" "117240348" "117240349" "ins" "0" "01804" "RFX6_000072" "g.117240348_117240349insTCCTTGGAATGAAACCCAA" "" "" "" "RFX6(NM_173560.3):c.1071_1072insTCCTTGGAATGAAACCCAA (p.(Val358Serfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860102" "0" "30" "6" "117241502" "117241502" "subst" "2.03242E-5" "01804" "RFX6_000073" "g.117241502T>A" "" "" "" "RFX6(NM_173560.3):c.1212T>A (p.(His404Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860103" "0" "50" "6" "117241516" "117241516" "subst" "0" "01804" "RFX6_000074" "g.117241516T>C" "" "" "" "RFX6(NM_173560.3):c.1226T>C (p.(Met409Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860104" "0" "50" "6" "117241522" "117241522" "subst" "3.25113E-5" "01804" "RFX6_000075" "g.117241522C>T" "" "" "" "RFX6(NM_173560.3):c.1232C>T (p.(Ser411Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860105" "0" "30" "6" "117241565" "117241565" "subst" "4.06385E-5" "01804" "RFX6_000076" "g.117241565C>G" "" "" "" "RFX6(NM_173560.3):c.1275C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860106" "0" "50" "6" "117244352" "117244352" "subst" "0" "01804" "RFX6_000077" "g.117244352T>C" "" "" "" "RFX6(NM_173560.3):c.1520T>C (p.(Met507Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860107" "0" "30" "6" "117244356" "117244356" "subst" "0" "01804" "RFX6_000078" "g.117244356T>G" "" "" "" "RFX6(NM_173560.3):c.1524T>G (p.(His508Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860108" "0" "30" "6" "117244397" "117244397" "subst" "8.94942E-5" "01804" "RFX6_000079" "g.117244397G>A" "" "" "" "RFX6(NM_173560.3):c.1555+10G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860109" "0" "50" "6" "117245863" "117245865" "del" "0" "01804" "RFX6_000080" "g.117245863_117245865del" "" "" "" "RFX6(NM_173560.3):c.1585_1587del (p.(Asp529del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860110" "0" "30" "6" "117246686" "117246686" "subst" "4.06808E-6" "01804" "RFX6_000081" "g.117246686G>A" "" "" "" "RFX6(NM_173560.3):c.1749G>A (p.(Met583Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860111" "0" "30" "6" "117246698" "117246698" "subst" "4.47638E-5" "01804" "RFX6_000082" "g.117246698C>T" "" "" "" "RFX6(NM_173560.3):c.1761C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860112" "0" "90" "6" "117246731" "117246731" "del" "0" "01804" "RFX6_000083" "g.117246731del" "" "" "" "RFX6(NM_173560.3):c.1794del (p.(Tyr599IlefsTer12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860113" "0" "30" "6" "117246746" "117246746" "subst" "3.66458E-5" "01804" "RFX6_000084" "g.117246746A>T" "" "" "" "RFX6(NM_173560.3):c.1809A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860114" "0" "30" "6" "117246815" "117246815" "subst" "2.85873E-5" "01804" "RFX6_000085" "g.117246815G>A" "" "" "" "RFX6(NM_173560.3):c.1878G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860115" "0" "50" "6" "117248258" "117248258" "subst" "1.62532E-5" "01804" "RFX6_000086" "g.117248258C>T" "" "" "" "RFX6(NM_173560.3):c.1954C>T (p.(Arg652Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860116" "0" "90" "6" "117248265" "117248265" "del" "0" "01804" "RFX6_000087" "g.117248265del" "" "" "" "RFX6(NM_173560.3):c.1961del (p.(Ser654MetfsTer119))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860117" "0" "30" "6" "117248363" "117248363" "subst" "8.12532E-6" "01804" "RFX6_000088" "g.117248363C>T" "" "" "" "RFX6(NM_173560.3):c.2059C>T (p.(Pro687Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860118" "0" "30" "6" "117248401" "117248401" "subst" "0.000385903" "01804" "RFX6_000089" "g.117248401C>G" "" "" "" "RFX6(NM_173560.3):c.2097C>G (p.(Thr699=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860119" "0" "30" "6" "117248480" "117248480" "subst" "0.00107406" "01804" "RFX6_000090" "g.117248480C>G" "" "" "" "RFX6(NM_173560.3):c.2176C>G (p.(Arg726Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860120" "0" "30" "6" "117248538" "117248538" "subst" "5.29161E-5" "01804" "RFX6_000091" "g.117248538C>T" "" "" "" "RFX6(NM_173560.3):c.2234C>T (p.(Ala745Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860121" "0" "50" "6" "117248549" "117248549" "subst" "0" "01804" "RFX6_000092" "g.117248549T>C" "" "" "" "RFX6(NM_173560.3):c.2245T>C (p.(Tyr749His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860122" "0" "30" "6" "117248694" "117248694" "subst" "8.26419E-6" "01804" "RFX6_000093" "g.117248694C>T" "" "" "" "RFX6(NM_173560.3):c.2390C>T (p.(Ser797Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860123" "0" "30" "6" "117248719" "117248719" "subst" "0.00105073" "01804" "RFX6_000094" "g.117248719G>T" "" "" "" "RFX6(NM_173560.3):c.2398+17G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860124" "0" "50" "6" "117250009" "117250012" "dup" "0" "01804" "RFX6_000095" "g.117250009_117250012dup" "" "" "" "RFX6(NM_173560.3):c.2482_2483insTTCG (p.(Leu831PhefsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860125" "0" "50" "6" "117250076" "117250076" "subst" "0.000190913" "01804" "RFX6_000096" "g.117250076G>T" "" "" "" "RFX6(NM_173560.3):c.2553G>T (p.(Gln851His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887010" "0" "30" "6" "117198480" "117198480" "subst" "0" "01804" "RFX6_000097" "g.117198480G>A" "" "" "" "RFX6(NM_173560.3):c.42G>A (p.(Ala14=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887011" "0" "30" "6" "117198561" "117198561" "subst" "9.11442E-5" "01804" "RFX6_000016" "g.117198561G>A" "" "" "" "RFX6(NM_173560.3):c.123G>A (p.P41=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887012" "0" "30" "6" "117198585" "117198585" "subst" "0" "01804" "RFX6_000098" "g.117198585C>G" "" "" "" "RFX6(NM_173560.3):c.147C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887013" "0" "77" "6" "117201752" "117201752" "del" "0" "01804" "RFX6_000099" "g.117201752del" "" "" "" "RFX6(NM_173560.3):c.426del (p.(Cys143AlafsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000887014" "0" "30" "6" "117243221" "117243221" "subst" "1.6332E-5" "01804" "RFX6_000100" "g.117243221G>T" "" "" "" "RFX6(NM_173560.3):c.1344G>T (p.(Val448=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887015" "0" "70" "6" "117244328" "117244328" "subst" "4.06349E-6" "01804" "RFX6_000101" "g.117244328G>A" "" "" "" "RFX6(NM_173560.3):c.1496G>A (p.(Trp499Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887016" "0" "50" "6" "117244330" "117244330" "subst" "1.62532E-5" "01804" "RFX6_000102" "g.117244330A>T" "" "" "" "RFX6(NM_173560.3):c.1498A>T (p.(Ser500Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887017" "0" "50" "6" "117248275" "117248275" "subst" "0" "01804" "RFX6_000103" "g.117248275C>G" "" "" "" "RFX6(NM_173560.3):c.1971C>G (p.(Asn657Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887018" "0" "50" "6" "117252539" "117252539" "subst" "4.47016E-5" "01804" "RFX6_000104" "g.117252539T>C" "" "" "" "RFX6(NM_173560.3):c.2657T>C (p.(Met886Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912392" "0" "30" "6" "117198651" "117198651" "subst" "6.48466E-6" "01804" "RFX6_000105" "g.117198651A>G" "" "" "" "RFX6(NM_173560.3):c.213A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912393" "0" "55" "6" "117199006" "117199006" "subst" "0" "01804" "RFX6_000106" "g.117199006G>T" "" "" "" "RFX6(NM_173560.3):c.271G>T (p.(Asp91Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000912394" "0" "30" "6" "117243327" "117243327" "subst" "0" "01804" "RFX6_000107" "g.117243327G>C" "" "" "" "RFX6(NM_173560.3):c.1437+13G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912395" "0" "50" "6" "117246696" "117246696" "subst" "8.13882E-6" "01804" "RFX6_000108" "g.117246696G>A" "" "" "" "RFX6(NM_173560.3):c.1759G>A (p.(Asp587Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912396" "0" "30" "6" "117252498" "117252498" "subst" "0" "01804" "RFX6_000109" "g.117252498C>T" "" "" "" "RFX6(NM_173560.3):c.2616C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924418" "0" "30" "6" "117237179" "117237179" "subst" "6.10834E-5" "01804" "RFX6_000110" "g.117237179G>A" "" "" "" "RFX6(NM_173560.3):c.789G>A (p.(Thr263=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924419" "0" "50" "6" "117240379" "117240379" "subst" "4.06861E-6" "01804" "RFX6_000111" "g.117240379C>G" "" "" "" "RFX6(NM_173560.3):c.1102C>G (p.(Leu368Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924420" "0" "50" "6" "117241587" "117241587" "subst" "4.06388E-6" "01804" "RFX6_000112" "g.117241587A>T" "" "" "" "RFX6(NM_173560.3):c.1297A>T (p.(Thr433Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924421" "0" "30" "6" "117243322" "117243322" "subst" "4.47504E-5" "01804" "RFX6_000113" "g.117243322T>G" "" "" "" "RFX6(NM_173560.3):c.1437+8T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924422" "0" "50" "6" "117245831" "117245831" "subst" "0" "01804" "RFX6_000114" "g.117245831G>A" "" "" "" "RFX6(NM_173560.3):c.1556-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924423" "0" "30" "6" "117245860" "117245860" "subst" "5.28339E-5" "01804" "RFX6_000115" "g.117245860C>T" "" "" "" "RFX6(NM_173560.3):c.1584C>T (p.(Leu528=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924424" "0" "50" "6" "117245888" "117245888" "subst" "3.25169E-5" "01804" "RFX6_000116" "g.117245888A>T" "" "" "" "RFX6(NM_173560.3):c.1612A>T (p.(Thr538Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924425" "0" "30" "6" "117246606" "117246606" "subst" "8.94229E-5" "01804" "RFX6_000117" "g.117246606C>T" "" "" "" "RFX6(NM_173560.3):c.1679-10C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924426" "0" "70" "6" "117248457" "117248458" "del" "0" "01804" "RFX6_000118" "g.117248457_117248458del" "" "" "" "RFX6(NM_173560.3):c.2153_2154del (p.(Tyr718SerfsTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931807" "1" "53" "6" "117249925" "117249925" "subst" "4.06345E-6" "01454" "RFX6_000119" "g.117249925A>G" "" "{PMID:Edraki 2023:36895461}" "" "A2402G" "1 homozygote in Turkish Variome" "Germline/De novo (untested)" "" "rs763236559" "0" "" "" "g.116928762A>G" "" "likely benign" "ACMG" "0000948622" "0" "50" "6" "117198661" "117198661" "subst" "1.99182E-5" "01804" "RFX6_000120" "g.117198661G>A" "" "" "" "RFX6(NM_173560.3):c.223G>A (p.(Glu75Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948623" "0" "30" "6" "117201728" "117201728" "subst" "4.07133E-6" "01804" "RFX6_000121" "g.117201728A>G" "" "" "" "RFX6(NM_173560.3):c.402A>G (p.(Val134=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948624" "0" "30" "6" "117203602" "117203602" "subst" "0" "01804" "RFX6_000122" "g.117203602A>G" "" "" "" "RFX6(NM_173560.3):c.566+11A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948625" "0" "30" "6" "117237423" "117237423" "subst" "6.9145E-5" "01804" "RFX6_000123" "g.117237423C>T" "" "" "" "RFX6(NM_173560.3):c.918C>T (p.(Leu306=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948626" "0" "30" "6" "117245935" "117245935" "subst" "3.6588E-5" "01804" "RFX6_000124" "g.117245935C>G" "" "" "" "RFX6(NM_173560.3):c.1659C>G (p.(Asp553Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948627" "0" "30" "6" "117248673" "117248673" "subst" "0.000360747" "01804" "RFX6_000053" "g.117248673G>A" "" "" "" "RFX6(NM_173560.3):c.2369G>A (p.(Gly790Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948628" "0" "30" "6" "117252534" "117252534" "subst" "7.31493E-5" "01804" "RFX6_000125" "g.117252534A>G" "" "" "" "RFX6(NM_173560.3):c.2652A>G (p.(Gln884=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963795" "0" "30" "6" "117203527" "117203527" "subst" "8.12929E-6" "01804" "RFX6_000126" "g.117203527T>C" "" "" "" "RFX6(NM_173560.3):c.505-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963796" "0" "50" "6" "117244262" "117244262" "subst" "0" "01804" "RFX6_000127" "g.117244262A>G" "" "" "" "RFX6(NM_173560.3):c.1438-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963797" "0" "30" "6" "117245964" "117245968" "del" "0" "01804" "RFX6_000128" "g.117245964_117245968del" "" "" "" "RFX6(NM_173560.3):c.1678+10_1678+14del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963798" "0" "30" "6" "117246841" "117246841" "subst" "0.000430642" "01804" "RFX6_000129" "g.117246841C>T" "" "" "" "RFX6(NM_173560.3):c.1885+19C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976941" "0" "30" "6" "117201701" "117201701" "subst" "8.18444E-6" "01804" "RFX6_000130" "g.117201701T>G" "" "" "" "RFX6(NM_173560.4):c.381-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976942" "0" "50" "6" "117203566" "117203566" "subst" "0" "01804" "RFX6_000131" "g.117203566C>G" "" "" "" "RFX6(NM_173560.3):c.541C>G (p.(Arg181Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976943" "0" "50" "6" "117232185" "117232185" "subst" "0" "01804" "RFX6_000132" "g.117232185G>C" "" "" "" "RFX6(NM_173560.3):c.760G>C (p.(Gly254Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976944" "0" "30" "6" "117243327" "117243327" "subst" "0.000199507" "01804" "RFX6_000133" "g.117243327G>A" "" "" "" "RFX6(NM_173560.3):c.1437+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976945" "0" "70" "6" "117246823" "117246823" "subst" "0" "01804" "RFX6_000134" "g.117246823G>T" "" "" "" "RFX6(NM_173560.3):c.1885+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976946" "0" "70" "6" "117246823" "117246823" "del" "0" "01804" "RFX6_000135" "g.117246823del" "" "" "" "RFX6(NM_173560.3):c.1885+1del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976947" "0" "30" "6" "117252525" "117252525" "subst" "0" "01804" "RFX6_000136" "g.117252525C>G" "" "" "" "RFX6(NM_173560.3):c.2643C>G (p.(Ser881=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995285" "0" "50" "6" "117198536" "117198536" "subst" "0" "01804" "RFX6_000137" "g.117198536T>C" "" "" "" "RFX6(NM_173560.3):c.98T>C (p.(Leu33Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995286" "0" "30" "6" "117198603" "117198603" "subst" "0.000698077" "01804" "RFX6_000138" "g.117198603C>T" "" "" "" "RFX6(NM_173560.3):c.165C>T (p.(Gly55=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995287" "0" "50" "6" "117201715" "117201715" "subst" "4.48467E-5" "01804" "RFX6_000139" "g.117201715A>G" "" "" "" "RFX6(NM_173560.3):c.389A>G (p.(Glu130Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995288" "0" "50" "6" "117237458" "117237458" "subst" "0" "01804" "RFX6_000140" "g.117237458G>C" "" "" "" "RFX6(NM_173560.3):c.953G>C (p.(Cys318Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995289" "0" "30" "6" "117249974" "117249974" "subst" "0" "01804" "RFX6_000141" "g.117249974G>A" "" "" "" "RFX6(NM_173560.3):c.2451G>A (p.(Met817Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995290" "0" "50" "6" "117250009" "117250009" "subst" "8.93633E-5" "01804" "RFX6_000142" "g.117250009G>C" "" "" "" "RFX6(NM_173560.3):c.2486G>C (p.(Arg829Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014165" "0" "50" "6" "117199016" "117199016" "subst" "4.06058E-6" "01804" "RFX6_000143" "g.117199016A>T" "" "" "" "RFX6(NM_173560.3):c.281A>T (p.(Asp94Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014166" "0" "70" "6" "117215153" "117215153" "subst" "0" "01804" "RFX6_000144" "g.117215153T>A" "" "" "" "RFX6(NM_173560.3):c.570T>A (p.(Tyr190Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014167" "0" "50" "6" "117244270" "117244270" "subst" "8.12909E-6" "01804" "RFX6_000145" "g.117244270A>G" "" "" "" "RFX6(NM_173560.3):c.1438A>G (p.(Thr480Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025161" "0" "50" "6" "117237424" "117237424" "subst" "1.62713E-5" "01804" "RFX6_000146" "g.117237424G>A" "" "" "" "RFX6(NM_173560.3):c.919G>A (p.(Glu307Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025162" "0" "90" "6" "117248504" "117248504" "subst" "0" "01804" "RFX6_000147" "g.117248504C>T" "" "" "" "RFX6(NM_173560.3):c.2200C>T (p.(Gln734Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035424" "0" "90" "6" "117198511" "117198511" "subst" "0" "01804" "RFX6_000148" "g.117198511C>T" "" "" "" "RFX6(NM_173560.4):c.73C>T (p.(Gln25*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035425" "0" "50" "6" "117252641" "117252641" "subst" "0" "01804" "RFX6_000149" "g.117252641T>G" "" "" "" "RFX6(NM_173560.4):c.2759T>G (p.(Phe920Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046045" "0" "50" "6" "117237382" "117237382" "subst" "0" "01804" "RFX6_000150" "g.117237382C>T" "" "" "" "RFX6(NM_173560.3):c.877C>T (p.(His293Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046046" "0" "50" "6" "117243237" "117243237" "subst" "0" "01804" "RFX6_000151" "g.117243237G>T" "" "" "" "RFX6(NM_173560.3):c.1360G>T (p.(Asp454Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052466" "0" "50" "6" "117237416" "117237416" "subst" "0" "01804" "RFX6_000152" "g.117237416C>T" "" "" "" "RFX6(NM_173560.3):c.911C>T (p.(Pro304Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052467" "0" "70" "6" "117240430" "117240430" "subst" "0" "01804" "RFX6_000153" "g.117240430C>T" "" "" "" "RFX6(NM_173560.4):c.1153C>T (p.(Arg385*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052468" "0" "50" "6" "117241483" "117241483" "subst" "0" "01804" "RFX6_000154" "g.117241483C>G" "" "" "" "RFX6(NM_173560.3):c.1193C>G (p.(Pro398Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052469" "0" "30" "6" "117245823" "117245823" "subst" "0.000727364" "01804" "RFX6_000055" "g.117245823A>T" "" "" "" "RFX6(NM_173560.3):c.1556-9A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052470" "0" "50" "6" "117248276" "117248276" "subst" "0" "01804" "RFX6_000155" "g.117248276C>G" "" "" "" "RFX6(NM_173560.4):c.1972C>G (p.(Gln658Glu))" "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 RFX6 ## Count = 164 "{{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}}" "0000084712" "00017676" "99" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385Gln)" "11" "0000084713" "00017676" "99" "1316" "0" "1319" "0" "c.1316_1319del" "r.(?)" "p.(Ile439Thrfs*13)" "12" "0000084796" "00017676" "99" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385Gln)" "11" "0000084812" "00017676" "99" "1316" "0" "1319" "0" "c.1316_1319del" "r.(?)" "p.(Ile439Thrfs*13)" "12" "0000084820" "00017676" "99" "380" "2" "380" "2" "c.380+2T>C" "r.spl?" "p.?" "2i" "0000084821" "00017676" "99" "649" "0" "649" "0" "c.649T>C" "r.(?)" "p.(Ser217Pro)" "6" "0000084822" "00017676" "99" "672" "2" "672" "2" "c.672+2T>G" "r.spl" "p.?" "6i" "0000084823" "00017676" "97" "224" "-12" "224" "-12" "c.224-12A>G" "r.spl?" "p.(=)" "1i" "0000084824" "00017676" "99" "777" "0" "780" "11" "c.777_780+11del" "r.spl" "p.?" "7_7i" "0000084825" "00017676" "99" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Arg181Gln)" "4" "0000087428" "00017676" "11" "313" "0" "313" "0" "c.313T>G" "r.(?)" "p.(Ser105Ala)" "2" "0000087429" "00017676" "99" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385Gln)" "11" "0000172296" "00017676" "99" "781" "-2" "787" "0" "c.781-2_787delinsG" "r.spl?" "p.?" "7i_8" "0000172297" "00017676" "99" "779" "0" "779" "0" "c.779A>C" "r.(?)" "p.(Lys260Thr)" "7" "0000172344" "00017676" "99" "1517" "0" "1517" "0" "c.1517T>G" "r.(?)" "p.(Val506Gly)" "14" "0000172345" "00017676" "99" "2176" "0" "2176" "0" "c.2176C>T" "r.(?)" "p.(Arg726*)" "17" "0000172346" "00017676" "99" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Arg866*)" "18" "0000172347" "00017676" "99" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Arg181Trp)" "4" "0000299314" "00017676" "50" "2399" "0" "2399" "0" "c.2399G>C" "r.(?)" "p.(Gly800Ala)" "" "0000307043" "00017676" "30" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Pro41=)" "" "0000307044" "00017676" "33" "1733" "0" "1733" "0" "c.1733G>C" "r.(?)" "p.(Arg578Pro)" "" "0000307045" "00017676" "30" "2039" "0" "2039" "0" "c.2039C>A" "r.(?)" "p.(Thr680Lys)" "" "0000331174" "00017676" "30" "1437" "8" "1437" "8" "c.1437+8T>A" "r.(=)" "p.(=)" "" "0000526955" "00017676" "30" "12" "0" "12" "0" "c.12C>G" "r.(?)" "p.(Val4=)" "" "0000526956" "00017676" "30" "50" "0" "50" "0" "c.50C>A" "r.(?)" "p.(Ala17Glu)" "" "0000526957" "00017676" "30" "62" "0" "62" "0" "c.62C>A" "r.(?)" "p.(Ser21Tyr)" "" "0000526958" "00017676" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Val45Met)" "" "0000526959" "00017676" "30" "210" "0" "210" "0" "c.210G>A" "r.(?)" "p.(Gly70=)" "" "0000526960" "00017676" "30" "223" "0" "223" "0" "c.223G>C" "r.(?)" "p.(Glu75Gln)" "" "0000526961" "00017676" "30" "223" "6" "223" "6" "c.223+6T>G" "r.(=)" "p.(=)" "" "0000526962" "00017676" "50" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Thr109Ile)" "" "0000526963" "00017676" "30" "566" "9" "566" "9" "c.566+9C>A" "r.(=)" "p.(=)" "" "0000526964" "00017676" "30" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Val207Ile)" "" "0000526966" "00017676" "30" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Ala393Val)" "" "0000526967" "00017676" "30" "1183" "-14" "1183" "-14" "c.1183-14C>T" "r.(=)" "p.(=)" "" "0000526968" "00017676" "30" "1183" "-5" "1183" "-5" "c.1183-5T>C" "r.spl?" "p.?" "" "0000526969" "00017676" "30" "1225" "0" "1225" "0" "c.1225A>G" "r.(?)" "p.(Met409Val)" "" "0000526971" "00017676" "10" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(His443Tyr)" "" "0000526972" "00017676" "30" "1328" "-10" "1328" "-10" "c.1328-10T>C" "r.(=)" "p.(=)" "" "0000526973" "00017676" "10" "1328" "-10" "1328" "-10" "c.1328-10del" "r.(=)" "p.(=)" "" "0000526974" "00017676" "30" "1328" "-9" "1328" "-9" "c.1328-9C>T" "r.(=)" "p.(=)" "" "0000526975" "00017676" "30" "1328" "-8" "1328" "-8" "c.1328-8C>T" "r.(=)" "p.(=)" "" "0000526976" "00017676" "30" "1328" "-6" "1328" "-6" "c.1328-6G>T" "r.(=)" "p.(=)" "" "0000526977" "00017676" "50" "1375" "0" "1375" "0" "c.1375A>T" "r.(?)" "p.(Asn459Tyr)" "" "0000526978" "00017676" "30" "1678" "8" "1678" "8" "c.1678+8A>G" "r.(=)" "p.(=)" "" "0000526979" "00017676" "33" "1733" "0" "1733" "0" "c.1733G>C" "r.(?)" "p.(Arg578Pro)" "" "0000526980" "00017676" "30" "2039" "0" "2039" "0" "c.2039C>A" "r.(?)" "p.(Thr680Lys)" "" "0000526981" "00017676" "10" "2166" "0" "2166" "0" "c.2166C>T" "r.(?)" "p.(Thr722=)" "" "0000526983" "00017676" "30" "2398" "8" "2398" "8" "c.2398+8T>C" "r.(=)" "p.(=)" "" "0000526984" "00017676" "30" "2399" "0" "2399" "0" "c.2399G>C" "r.(?)" "p.(Gly800Ala)" "" "0000526986" "00017676" "30" "2561" "0" "2561" "0" "c.2561C>T" "r.(?)" "p.(Ser854Leu)" "" "0000526987" "00017676" "70" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Arg866Ter)" "" "0000526988" "00017676" "30" "2716" "0" "2716" "0" "c.2716A>C" "r.(?)" "p.(Ser906Arg)" "" "0000526989" "00017676" "50" "2743" "0" "2743" "0" "c.2743C>T" "r.(?)" "p.(Pro915Ser)" "" "0000609953" "00017676" "30" "223" "0" "223" "0" "c.223G>C" "r.(?)" "p.(Glu75Gln)" "" "0000621621" "00017676" "50" "2534" "0" "2534" "0" "c.2534A>G" "r.(?)" "p.(Asp845Gly)" "" "0000651822" "00017676" "53" "1733" "0" "1733" "0" "c.1733G>C" "r.(?)" "p.(Arg578Pro)" "" "0000651823" "00017676" "30" "2369" "0" "2369" "0" "c.2369G>A" "r.(?)" "p.(Gly790Glu)" "" "0000720646" "00017676" "30" "1638" "0" "1638" "0" "c.1638G>A" "r.(?)" "p.(Gln546=)" "" "0000720647" "00017676" "50" "2399" "0" "2399" "0" "c.2399G>C" "r.(?)" "p.(Gly800Ala)" "" "0000802278" "00017676" "30" "1556" "-9" "1556" "-9" "c.1556-9A>T" "r.(=)" "p.(=)" "" "0000860085" "00017676" "30" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(Pro5=)" "" "0000860086" "00017676" "30" "380" "16" "380" "16" "c.380+16A>G" "r.(=)" "p.(=)" "" "0000860087" "00017676" "30" "418" "0" "418" "0" "c.418T>C" "r.(?)" "p.(Leu140=)" "" "0000860088" "00017676" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000860089" "00017676" "30" "438" "0" "438" "0" "c.438T>C" "r.(?)" "p.(Tyr146=)" "" "0000860090" "00017676" "30" "505" "-9" "505" "-9" "c.505-9T>C" "r.(=)" "p.(=)" "" "0000860091" "00017676" "30" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Arg180=)" "" "0000860092" "00017676" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(His191Tyr)" "" "0000860093" "00017676" "30" "673" "-3" "673" "-3" "c.673-3T>C" "r.spl?" "p.?" "" "0000860094" "00017676" "30" "696" "0" "696" "0" "c.696G>A" "r.(?)" "p.(Ser232=)" "" "0000860095" "00017676" "50" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Thr237Ile)" "" "0000860096" "00017676" "30" "717" "0" "717" "0" "c.717A>G" "r.(?)" "p.(Thr239=)" "" "0000860097" "00017676" "30" "735" "0" "735" "0" "c.735C>G" "r.(?)" "p.(Pro245=)" "" "0000860098" "00017676" "30" "781" "-6" "781" "-6" "c.781-6A>T" "r.(=)" "p.(=)" "" "0000860099" "00017676" "10" "985" "0" "985" "0" "c.985G>A" "r.(?)" "p.(Val329Ile)" "" "0000860100" "00017676" "50" "1036" "0" "1036" "0" "c.1036A>G" "r.(?)" "p.(Ile346Val)" "" "0000860101" "00017676" "70" "1071" "0" "1072" "0" "c.1071_1072insTCCTTGGAATGAAACCCAA" "r.(?)" "p.(Val358SerfsTer4)" "" "0000860102" "00017676" "30" "1212" "0" "1212" "0" "c.1212T>A" "r.(?)" "p.(His404Gln)" "" "0000860103" "00017676" "50" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Met409Thr)" "" "0000860104" "00017676" "50" "1232" "0" "1232" "0" "c.1232C>T" "r.(?)" "p.(Ser411Phe)" "" "0000860105" "00017676" "30" "1275" "0" "1275" "0" "c.1275C>G" "r.(?)" "p.(Ala425=)" "" "0000860106" "00017676" "50" "1520" "0" "1520" "0" "c.1520T>C" "r.(?)" "p.(Met507Thr)" "" "0000860107" "00017676" "30" "1524" "0" "1524" "0" "c.1524T>G" "r.(?)" "p.(His508Gln)" "" "0000860108" "00017676" "30" "1555" "10" "1555" "10" "c.1555+10G>A" "r.(=)" "p.(=)" "" "0000860109" "00017676" "50" "1587" "0" "1589" "0" "c.1587_1589del" "r.(?)" "p.(Asp529del)" "" "0000860110" "00017676" "30" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(Met583Ile)" "" "0000860111" "00017676" "30" "1761" "0" "1761" "0" "c.1761C>T" "r.(?)" "p.(Asp587=)" "" "0000860112" "00017676" "90" "1794" "0" "1794" "0" "c.1794del" "r.(?)" "p.(Tyr599IlefsTer12)" "" "0000860113" "00017676" "30" "1809" "0" "1809" "0" "c.1809A>T" "r.(?)" "p.(Pro603=)" "" "0000860114" "00017676" "30" "1878" "0" "1878" "0" "c.1878G>A" "r.(?)" "p.(Pro626=)" "" "0000860115" "00017676" "50" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Arg652*)" "" "0000860116" "00017676" "90" "1961" "0" "1961" "0" "c.1961del" "r.(?)" "p.(Ser654Metfs*119)" "" "0000860117" "00017676" "30" "2059" "0" "2059" "0" "c.2059C>T" "r.(?)" "p.(Pro687Ser)" "" "0000860118" "00017676" "30" "2097" "0" "2097" "0" "c.2097C>G" "r.(?)" "p.(Thr699=)" "" "0000860119" "00017676" "30" "2176" "0" "2176" "0" "c.2176C>G" "r.(?)" "p.(Arg726Gly)" "" "0000860120" "00017676" "30" "2234" "0" "2234" "0" "c.2234C>T" "r.(?)" "p.(Ala745Val)" "" "0000860121" "00017676" "50" "2245" "0" "2245" "0" "c.2245T>C" "r.(?)" "p.(Tyr749His)" "" "0000860122" "00017676" "30" "2390" "0" "2390" "0" "c.2390C>T" "r.(?)" "p.(Ser797Leu)" "" "0000860123" "00017676" "30" "2398" "17" "2398" "17" "c.2398+17G>T" "r.(=)" "p.(=)" "" "0000860124" "00017676" "50" "2486" "0" "2489" "0" "c.2486_2489dup" "r.(?)" "p.(Leu831PhefsTer7)" "" "0000860125" "00017676" "50" "2553" "0" "2553" "0" "c.2553G>T" "r.(?)" "p.(Gln851His)" "" "0000887010" "00017676" "30" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.(Ala14=)" "" "0000887011" "00017676" "30" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Pro41=)" "" "0000887012" "00017676" "30" "147" "0" "147" "0" "c.147C>G" "r.(?)" "p.(Ala49=)" "" "0000887013" "00017676" "77" "426" "0" "426" "0" "c.426del" "r.(?)" "p.(Cys143Alafs*8)" "" "0000887014" "00017676" "30" "1344" "0" "1344" "0" "c.1344G>T" "r.(?)" "p.(Val448=)" "" "0000887015" "00017676" "70" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Trp499*)" "" "0000887016" "00017676" "50" "1498" "0" "1498" "0" "c.1498A>T" "r.(?)" "p.(Ser500Cys)" "" "0000887017" "00017676" "50" "1971" "0" "1971" "0" "c.1971C>G" "r.(?)" "p.(Asn657Lys)" "" "0000887018" "00017676" "50" "2657" "0" "2657" "0" "c.2657T>C" "r.(?)" "p.(Met886Thr)" "" "0000912392" "00017676" "30" "213" "0" "213" "0" "c.213A>G" "r.(?)" "p.(Ala71=)" "" "0000912393" "00017676" "55" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Asp91Tyr)" "" "0000912394" "00017676" "30" "1437" "13" "1437" "13" "c.1437+13G>C" "r.(=)" "p.(=)" "" "0000912395" "00017676" "50" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Asp587Asn)" "" "0000912396" "00017676" "30" "2616" "0" "2616" "0" "c.2616C>T" "r.(?)" "p.(Ser872=)" "" "0000924418" "00017676" "30" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Thr263=)" "" "0000924419" "00017676" "50" "1102" "0" "1102" "0" "c.1102C>G" "r.(?)" "p.(Leu368Val)" "" "0000924420" "00017676" "50" "1297" "0" "1297" "0" "c.1297A>T" "r.(?)" "p.(Thr433Ser)" "" "0000924421" "00017676" "30" "1437" "8" "1437" "8" "c.1437+8T>G" "r.(=)" "p.(=)" "" "0000924422" "00017676" "50" "1556" "-1" "1556" "-1" "c.1556-1G>A" "r.spl?" "p.?" "" "0000924423" "00017676" "30" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Leu528=)" "" "0000924424" "00017676" "50" "1612" "0" "1612" "0" "c.1612A>T" "r.(?)" "p.(Thr538Ser)" "" "0000924425" "00017676" "30" "1679" "-10" "1679" "-10" "c.1679-10C>T" "r.(=)" "p.(=)" "" "0000924426" "00017676" "70" "2153" "0" "2154" "0" "c.2153_2154del" "r.(?)" "p.(Tyr718Serfs*14)" "" "0000931807" "00017676" "53" "2402" "0" "2402" "0" "c.2402A>G" "r.(?)" "p.(Tyr801Cys)" "18" "0000948622" "00017676" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Glu75Lys)" "" "0000948623" "00017676" "30" "402" "0" "402" "0" "c.402A>G" "r.(?)" "p.(=)" "" "0000948624" "00017676" "30" "566" "11" "566" "11" "c.566+11A>G" "r.(=)" "p.(=)" "" "0000948625" "00017676" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(=)" "" "0000948626" "00017676" "30" "1659" "0" "1659" "0" "c.1659C>G" "r.(?)" "p.(Asp553Glu)" "" "0000948627" "00017676" "30" "2369" "0" "2369" "0" "c.2369G>A" "r.(?)" "p.(Gly790Glu)" "" "0000948628" "00017676" "30" "2652" "0" "2652" "0" "c.2652A>G" "r.(?)" "p.(=)" "" "0000963795" "00017676" "30" "505" "-3" "505" "-3" "c.505-3T>C" "r.spl?" "p.?" "" "0000963796" "00017676" "50" "1438" "-8" "1438" "-8" "c.1438-8A>G" "r.(=)" "p.(=)" "" "0000963797" "00017676" "30" "1678" "10" "1678" "14" "c.1678+10_1678+14del" "r.(=)" "p.(=)" "" "0000963798" "00017676" "30" "1885" "19" "1885" "19" "c.1885+19C>T" "r.(=)" "p.(=)" "" "0000976941" "00017676" "30" "381" "-6" "381" "-6" "c.381-6T>G" "r.(=)" "p.(=)" "" "0000976942" "00017676" "50" "541" "0" "541" "0" "c.541C>G" "r.(?)" "p.(Arg181Gly)" "" "0000976943" "00017676" "50" "760" "0" "760" "0" "c.760G>C" "r.(?)" "p.(Gly254Arg)" "" "0000976944" "00017676" "30" "1437" "13" "1437" "13" "c.1437+13G>A" "r.(=)" "p.(=)" "" "0000976945" "00017676" "70" "1885" "1" "1885" "1" "c.1885+1G>T" "r.spl?" "p.?" "" "0000976946" "00017676" "70" "1885" "1" "1885" "1" "c.1885+1del" "r.spl?" "p.?" "" "0000976947" "00017676" "30" "2643" "0" "2643" "0" "c.2643C>G" "r.(?)" "p.(=)" "" "0000995285" "00017676" "50" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Leu33Pro)" "" "0000995286" "00017676" "30" "165" "0" "165" "0" "c.165C>T" "r.(?)" "p.(=)" "" "0000995287" "00017676" "50" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(Glu130Gly)" "" "0000995288" "00017676" "50" "953" "0" "953" "0" "c.953G>C" "r.(?)" "p.(Cys318Ser)" "" "0000995289" "00017676" "30" "2451" "0" "2451" "0" "c.2451G>A" "r.(?)" "p.(Met817Ile)" "" "0000995290" "00017676" "50" "2486" "0" "2486" "0" "c.2486G>C" "r.(?)" "p.(Arg829Pro)" "" "0001014165" "00017676" "50" "281" "0" "281" "0" "c.281A>T" "r.(?)" "p.(Asp94Val)" "" "0001014166" "00017676" "70" "570" "0" "570" "0" "c.570T>A" "r.(?)" "p.(Tyr190*)" "" "0001014167" "00017676" "50" "1438" "0" "1438" "0" "c.1438A>G" "r.(?)" "p.(Thr480Ala)" "" "0001025161" "00017676" "50" "919" "0" "919" "0" "c.919G>A" "r.(?)" "p.(Glu307Lys)" "" "0001025162" "00017676" "90" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Gln734*)" "" "0001035424" "00017676" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Gln25*)" "" "0001035425" "00017676" "50" "2759" "0" "2759" "0" "c.2759T>G" "r.(?)" "p.(Phe920Cys)" "" "0001046045" "00017676" "50" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(His293Tyr)" "" "0001046046" "00017676" "50" "1360" "0" "1360" "0" "c.1360G>T" "r.(?)" "p.(Asp454Tyr)" "" "0001052466" "00017676" "50" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Pro304Leu)" "" "0001052467" "00017676" "70" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385*)" "" "0001052468" "00017676" "50" "1193" "0" "1193" "0" "c.1193C>G" "r.(?)" "p.(Pro398Arg)" "" "0001052469" "00017676" "30" "1556" "-9" "1556" "-9" "c.1556-9A>T" "r.(=)" "p.(=)" "" "0001052470" "00017676" "50" "1972" "0" "1972" "0" "c.1972C>G" "r.(?)" "p.(Gln658Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000054725" "0000084712" "0000054725" "0000084713" "0000054783" "0000084712" "0000054783" "0000084713" "0000054784" "0000084796" "0000054784" "0000084812" "0000054799" "0000084796" "0000054799" "0000084812" "0000054807" "0000084820" "0000054808" "0000084821" "0000054809" "0000084822" "0000054809" "0000084823" "0000054810" "0000084824" "0000054811" "0000084825" "0000057140" "0000087428" "0000057140" "0000087429" "0000057141" "0000087429" "0000106609" "0000172296" "0000106610" "0000172297" "0000106632" "0000172344" "0000106633" "0000172345" "0000106633" "0000172346" "0000106634" "0000172347" "0000295133" "0000651822" "0000295134" "0000651823" "0000437075" "0000931807"