### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RDX) # 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}}" "RDX" "radixin" "11" "q23" "unknown" "NC_000011.9" "UD_134408394072" "" "https://www.LOVD.nl/RDX" "" "1" "9944" "5962" "179410" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-06 12:51:23" "00006" "2025-01-06 12:50:15" ## 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}}" "00017600" "RDX" "transcript variant 3" "006" "NM_002906.3" "" "NP_002897.1" "" "" "" "-310" "4180" "1752" "110167437" "110100166" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "03003" "DFNB24" "deafness, autosomal recessive, type 24" "AR" "611022" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-06 12:51:48" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RDX" "03003" "RDX" "05400" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00059182" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00132291" "" "" "" "8" "" "00088" "{PMID:Eisenberger 2018:29309402}" "4-generation family, 8 affected (4F, 4M)" "M" "no" "Germany" "" "0" "" "" "white" "FamPatIV2" "00284899" "" "" "" "1" "" "00004" "{PMID:Khan 2007:17226784}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00284900" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284901" "" "" "" "1" "" "00004" "{PMID:Khan 2007:17226784}" "" "" "" "" "" "0" "" "" "" "" "00284902" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284903" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284904" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}, {PMID:Khan 2007:17226784}" "" "" "" "" "" "0" "" "" "" "" "00284905" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284906" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284907" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284908" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00284909" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284910" "" "" "" "1" "" "00004" "{PMID:Shearer 2009:19215054}" "" "" "" "" "" "0" "" "" "" "" "00284911" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00284912" "" "" "" "1" "" "00004" "{PMID:Khan 2007:17226784}, {PMID:Shearer 1993:20301607}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00284913" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284914" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00290235" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00448504" "" "" "" "1" "" "04656" "" "" "F" "yes" "Pakistan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00059182" "00531" "00132291" "06877" "00284899" "05086" "00284901" "05086" "00284904" "05103" "00284908" "05103" "00284910" "05086" "00284911" "05086" "00284912" "05086" "00290235" "00198" "00448504" "03003" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00531, 03003, 05086, 05103, 05400, 06877 ## 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}}" "0000218228" "05086" "00284899" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218229" "05086" "00284901" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218230" "05086" "00284910" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218231" "05086" "00284911" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218232" "05086" "00284912" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218554" "05103" "00284904" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 24" "deafness, autosomal recessive" "" "0000218555" "05103" "00284908" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000330554" "06877" "00132291" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNA73" "autosomal dominant non-syndromic hearing loss" "" "0000347559" "03003" "00448504" "04656" "Unknown" "" "moderately severe hearing loss" "" "" "" "" "" "" "" "" "DFNB24" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059165" "00059182" "1" "01551" "01551" "2016-02-29 16:38:39" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000133127" "00132291" "1" "00088" "00088" "2017-09-30 11:10:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000286049" "00284899" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286050" "00284900" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286051" "00284901" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286052" "00284902" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286053" "00284903" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286054" "00284904" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286055" "00284905" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286056" "00284906" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286057" "00284907" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286058" "00284908" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286059" "00284909" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286060" "00284910" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286061" "00284911" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286062" "00284912" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286063" "00284913" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286064" "00284914" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000291403" "00290235" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000450085" "00448504" "1" "04656" "04656" "2024-03-18 08:13:14" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000059165" "RDX" "0000133127" "PTPRQ" "0000286049" "RDX" "0000286050" "RDX" "0000286051" "RDX" "0000286052" "RDX" "0000286053" "RDX" "0000286054" "RDX" "0000286055" "RDX" "0000286056" "RDX" "0000286057" "RDX" "0000286058" "RDX" "0000286059" "RDX" "0000286060" "RDX" "0000286061" "RDX" "0000286062" "RDX" "0000286063" "RDX" "0000286064" "RDX" "0000450085" "RDX" ## 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 = 40 "{{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}}" "0000089984" "0" "50" "11" "110103992" "110103992" "subst" "8.12321E-6" "01551" "RDX_000001" "g.110103992C>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.110233267C>G" "" "VUS" "" "0000089985" "0" "50" "11" "110104137" "110104137" "subst" "8.12427E-6" "01551" "RDX_000002" "g.110104137G>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.110233412G>T" "" "VUS" "" "0000251484" "0" "10" "11" "110150498" "110150498" "del" "0" "02326" "RDX_000008" "g.110150498del" "" "" "" "RDX(NM_002906.3):c.-64-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110279773del" "" "benign" "" "0000255134" "0" "30" "11" "110135585" "110135585" "subst" "4.06296E-6" "01943" "RDX_000005" "g.110135585A>C" "" "" "" "RDX(NM_002906.3):c.111T>G (p.V37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110264860A>C" "" "likely benign" "" "0000301414" "0" "30" "11" "110150486" "110150486" "del" "0" "02326" "RDX_000007" "g.110150486del" "" "" "" "RDX(NM_001260493.1):c.-64-4delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110279761del" "" "likely benign" "" "0000306903" "0" "50" "11" "110104062" "110104062" "subst" "0.00187608" "01943" "RDX_000003" "g.110104062G>A" "" "" "" "RDX(NM_002906.3):c.1487C>T (p.A496V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110233337G>A" "" "VUS" "" "0000306904" "0" "50" "11" "110134727" "110134727" "subst" "4.06822E-6" "01943" "RDX_000004" "g.110134727T>C" "" "" "" "RDX(NM_002906.3):c.425A>G (p.H142R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110264002T>C" "" "VUS" "" "0000306905" "0" "30" "11" "110143277" "110143277" "subst" "0" "01943" "RDX_000006" "g.110143277T>C" "" "" "" "RDX(NM_002906.3):c.80A>G (p.K27R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110272552T>C" "" "likely benign" "" "0000343685" "0" "50" "11" "110124800" "110124800" "subst" "6.0986E-5" "02327" "RDX_000009" "g.110124800T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110254075T>C" "" "VUS" "" "0000542306" "0" "30" "11" "110102770" "110102770" "dup" "0" "01943" "RDX_000010" "g.110102770dup" "" "" "" "RDX(NM_002906.3):c.1588-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110232045dup" "" "likely benign" "" "0000542307" "0" "30" "11" "110104045" "110104045" "subst" "6.9031E-5" "01943" "RDX_000011" "g.110104045T>C" "" "" "" "RDX(NM_002906.3):c.1504A>G (p.N502D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110233320T>C" "" "likely benign" "" "0000542308" "0" "90" "11" "110104143" "110104143" "dup" "0" "01943" "RDX_000012" "g.110104143dup" "" "" "" "RDX(NM_002906.3):c.1412dupC (p.P472Sfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110233418dup" "" "pathogenic" "" "0000542309" "0" "50" "11" "110118523" "110118523" "subst" "0.000214619" "02327" "RDX_000013" "g.110118523A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110247798A>G" "" "VUS" "" "0000542310" "0" "50" "11" "110134896" "110134896" "subst" "0.000122075" "02327" "RDX_000014" "g.110134896G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110264171G>C" "" "VUS" "" "0000542311" "0" "50" "11" "110135550" "110135550" "subst" "0.000109655" "01943" "RDX_000015" "g.110135550T>C" "" "" "" "RDX(NM_002906.3):c.146A>G (p.Y49C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110264825T>C" "" "VUS" "" "0000542313" "0" "10" "11" "110150498" "110150498" "dup" "0" "01943" "RDX_000016" "g.110150498dup" "" "" "" "RDX(NM_002906.3):c.-64-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110279773dup" "" "benign" "" "0000622538" "0" "30" "11" "110106908" "110106908" "subst" "2.43835E-5" "01943" "RDX_000017" "g.110106908T>C" "" "" "" "RDX(NM_002906.3):c.1260A>G (p.E420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110236183T>C" "" "likely benign" "" "0000641791" "1" "99" "11" "110102614" "110102614" "subst" "4.06266E-6" "00004" "RDX_000018" "g.110102614C>T" "" "{DB:DVD}, {PMID:Khan 2007:17226784}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110231889C>T" "" "pathogenic" "" "0000641792" "1" "55" "11" "110104081" "110104081" "subst" "0.00019898" "00004" "RDX_000019" "g.110104081C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110233356C>T" "" "VUS" "" "0000641793" "1" "99" "11" "110104144" "110104144" "dup" "0" "00004" "RDX_000020" "g.110104144dup" "" "{DB:DVD}, {PMID:Khan 2007:17226784}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110233419dup" "" "pathogenic" "" "0000641794" "1" "55" "11" "110104185" "110104185" "subst" "1.21903E-5" "00004" "RDX_000021" "g.110104185T>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110233460T>G" "" "VUS" "" "0000641795" "1" "33" "11" "110106827" "110106827" "subst" "0" "00004" "RDX_000022" "g.110106827G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110236102G>T" "" "likely benign" "" "0000641796" "1" "99" "11" "110106860" "110106860" "del" "0" "00004" "RDX_000023" "g.110106860del" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}, {PMID:Khan 2007:17226784}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110236135del" "" "pathogenic" "" "0000641797" "1" "55" "11" "110106886" "110106886" "subst" "8.53104E-5" "00004" "RDX_000024" "g.110106886T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110236161T>C" "" "VUS" "" "0000641798" "1" "33" "11" "110108292" "110108292" "subst" "4.06114E-6" "00004" "RDX_000025" "g.110108292C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110237567C>T" "" "likely benign" "" "0000641799" "1" "55" "11" "110124666" "110124667" "ins" "0" "00004" "RDX_000026" "g.110124666_110124667insT" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110253941_110253942insT" "" "VUS" "" "0000641800" "1" "99" "11" "110124761" "110124761" "subst" "0" "00004" "RDX_000027" "g.110124761A>G" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110254036A>G" "" "pathogenic" "" "0000641801" "1" "55" "11" "110126031" "110126031" "subst" "6.93493E-5" "00004" "RDX_000028" "g.110126031T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110255306T>C" "" "VUS" "" "0000641802" "1" "99" "11" "110128491" "110128491" "subst" "0" "00004" "RDX_000029" "g.110128491C>T" "" "{DB:DVD}, {PMID:Shearer 2009:19215054}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110257766C>T" "" "pathogenic" "" "0000641803" "1" "99" "11" "110128575" "110128575" "subst" "0" "00004" "RDX_000030" "g.110128575A>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110257850A>T" "" "pathogenic" "" "0000641804" "1" "99" "11" "110134689" "110134689" "subst" "0" "00004" "RDX_000031" "g.110134689G>A" "" "{DB:DVD}, {PMID:Khan 2007:17226784}, {PMID:Shearer 1993:20301607}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110263964G>A" "" "pathogenic" "" "0000641805" "1" "55" "11" "110135617" "110135619" "del" "0" "00004" "RDX_000032" "g.110135617_110135619del" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110264892_110264894del" "" "VUS" "" "0000641806" "1" "33" "11" "110143285" "110143285" "subst" "8.16993E-6" "00004" "RDX_000033" "g.110143285T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.110272560T>C" "" "likely benign" "" "0000648092" "1" "50" "11" "110104062" "110104062" "subst" "0.00187608" "03575" "RDX_000003" "g.110104062G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs74983220}" "Germline" "" "rs74983220" "0" "" "" "g.110233337G>A" "" "VUS" "" "0000656674" "0" "50" "11" "110126019" "110126019" "subst" "0.000302683" "01943" "RDX_000034" "g.110126019C>G" "" "" "" "RDX(NM_002906.3):c.790G>C (p.A264P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110255294C>G" "" "VUS" "" "0000804862" "0" "30" "11" "110104139" "110104139" "subst" "6.49926E-5" "01943" "RDX_000035" "g.110104139G>C" "" "" "" "RDX(NM_002906.3):c.1410C>G (p.P470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804863" "0" "50" "11" "110150420" "110150420" "dup" "0" "01943" "RDX_000036" "g.110150420dup" "" "" "" "RDX(NM_002906.3):c.1dupA (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000943939" "0" "50" "11" "110104137" "110104137" "subst" "8.12427E-6" "00006" "RDX_000002" "g.110104137G>T" "" "{PMID:Eisenberger 2018:29309402}" "" "" "" "Germline" "" "rs754733997" "0" "" "" "g.110233412G>T" "" "VUS" "" "0000943940" "0" "50" "11" "110103992" "110103992" "subst" "8.12321E-6" "00006" "RDX_000001" "g.110103992C>G" "" "{PMID:Eisenberger 2018:29309402}" "" "" "" "Germline" "" "rs761349279" "0" "" "" "g.110233267C>G" "" "VUS" "" "0000972017" "3" "50" "11" "11010833" "11010833" "subst" "0" "04656" "RDX_000037" "g.11010833G>A" "" "" "" "" "variant on 2nd chromosome not reported" "Germline" "" "" "0" "" "" "g.110237608G>A" "" "pathogenic" "" ## 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 RDX ## Count = 40 "{{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}}" "0000089984" "00017600" "50" "1557" "0" "1557" "0" "c.1557G>C" "r.(?)" "p.(Gln519His)" "" "0000089985" "00017600" "50" "1412" "0" "1412" "0" "c.1412C>A" "r.(?)" "p.(Pro471His)" "" "0000251484" "00017600" "10" "-64" "-6" "-64" "-6" "c.-64-6del" "r.(=)" "p.(=)" "" "0000255134" "00017600" "30" "111" "0" "111" "0" "c.111T>G" "r.(?)" "p.(Val37=)" "" "0000301414" "00017600" "30" "-64" "-4" "-64" "-4" "c.-64-4del" "r.spl?" "p.?" "" "0000306903" "00017600" "50" "1487" "0" "1487" "0" "c.1487C>T" "r.(?)" "p.(Ala496Val)" "" "0000306904" "00017600" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(His142Arg)" "" "0000306905" "00017600" "30" "80" "0" "80" "0" "c.80A>G" "r.(?)" "p.(Lys27Arg)" "" "0000343685" "00017600" "50" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(Asn277Ser)" "" "0000542306" "00017600" "30" "1588" "-7" "1588" "-7" "c.1588-7dup" "r.(=)" "p.(=)" "" "0000542307" "00017600" "30" "1504" "0" "1504" "0" "c.1504A>G" "r.(?)" "p.(Asn502Asp)" "" "0000542308" "00017600" "90" "1412" "0" "1412" "0" "c.1412dup" "r.(?)" "p.(Pro472SerfsTer16)" "" "0000542309" "00017600" "50" "995" "0" "995" "0" "c.995T>C" "r.(?)" "p.(Ile332Thr)" "" "0000542310" "00017600" "50" "256" "0" "256" "0" "c.256C>G" "r.(?)" "p.(Pro86Ala)" "" "0000542311" "00017600" "50" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Tyr49Cys)" "" "0000542313" "00017600" "10" "-64" "-6" "-64" "-6" "c.-64-6dup" "r.(=)" "p.(=)" "" "0000622538" "00017600" "30" "1260" "0" "1260" "0" "c.1260A>G" "r.(?)" "p.(Glu420=)" "" "0000641791" "00017600" "99" "1732" "0" "1732" "0" "c.1732G>A" "r.(?)" "p.(Asp578Asn)" "14" "0000641792" "00017600" "55" "1468" "0" "1468" "0" "c.1468G>A" "r.(?)" "p.(Asp490Asn)" "13" "0000641793" "00017600" "99" "1405" "0" "1405" "0" "c.1405dup" "r.(?)" "p.(Ala469Glyfs*19)" "13" "0000641794" "00017600" "55" "1364" "0" "1364" "0" "c.1364A>C" "r.(?)" "p.(Asp455Ala)" "13" "0000641795" "00017600" "33" "1341" "0" "1341" "0" "c.1341C>A" "r.(?)" "p.(His447Gln)" "12" "0000641796" "00017600" "99" "1308" "0" "1308" "0" "c.1308del" "r.(?)" "p.(Lys438Argfs*26)" "12" "0000641797" "00017600" "55" "1282" "0" "1282" "0" "c.1282A>G" "r.(?)" "p.(Ile428Val)" "12" "0000641798" "00017600" "33" "1176" "0" "1176" "0" "c.1176G>A" "r.(=)" "p.(=)" "11" "0000641799" "00017600" "55" "959" "4" "959" "5" "c.959+4_959+5insA" "r.spl?" "p.?" "9i" "0000641800" "00017600" "99" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Leu290Pro)" "9" "0000641801" "00017600" "55" "778" "0" "778" "0" "c.778A>G" "r.(?)" "p.(Ile260Val)" "8" "0000641802" "00017600" "99" "698" "1" "698" "1" "c.698+1G>A" "r.spl?" "p.?" "7i" "0000641803" "00017600" "99" "615" "0" "615" "0" "c.615T>A" "r.(?)" "p.(Tyr205*)" "7" "0000641804" "00017600" "99" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Gln155*)" "5" "0000641805" "00017600" "55" "97" "-10" "97" "-8" "c.97-10_97-8del" "r.(=)" "p.(=)" "3i" "0000641806" "00017600" "33" "72" "0" "72" "0" "c.72A>G" "r.(=)" "p.(=)" "3" "0000648092" "00017600" "50" "1487" "0" "1487" "0" "c.1487C>T" "r.(?)" "p.(Ala496Val)" "" "0000656674" "00017600" "50" "790" "0" "790" "0" "c.790G>C" "r.(?)" "p.(Ala264Pro)" "" "0000804862" "00017600" "30" "1410" "0" "1410" "0" "c.1410C>G" "r.(?)" "p.(Pro470=)" "" "0000804863" "00017600" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "" "0000943939" "00017600" "50" "1412" "0" "1412" "0" "c.1412C>A" "r.(?)" "p.(Pro471His)" "" "0000943940" "00017600" "50" "1557" "0" "1557" "0" "c.1557G>C" "r.(?)" "p.(Gln519His)" "" "0000972017" "00017600" "50" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000059165" "0000089984" "0000059165" "0000089985" "0000133127" "0000943939" "0000133127" "0000943940" "0000286049" "0000641791" "0000286050" "0000641792" "0000286051" "0000641793" "0000286052" "0000641794" "0000286053" "0000641795" "0000286054" "0000641796" "0000286055" "0000641797" "0000286056" "0000641798" "0000286057" "0000641799" "0000286058" "0000641800" "0000286059" "0000641801" "0000286060" "0000641802" "0000286061" "0000641803" "0000286062" "0000641804" "0000286063" "0000641805" "0000286064" "0000641806" "0000291403" "0000648092" "0000450085" "0000972017"