### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC50) # 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}}" "CCDC50" "coiled-coil domain containing 50" "3" "q28" "unknown" "NG_008994.1" "UD_132085417528" "" "http://www.LOVD.nl/CCDC50" "" "1" "18111" "152137" "611051" "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/CCDC50_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-03-18 15:20:25" "00000" "2025-05-05 21:14:00" ## 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}}" "00024111" "CCDC50" "transcript variant 2" "001" "NM_178335.2" "" "NP_848018.1" "" "" "" "-590" "8359" "1449" "191046874" "191116459" "00006" "2016-03-18 15:16:56" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "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" "02657" "DFNA44" "deafness, autosomal dominant, type 44 (DFNA-44)" "AD" "607453" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CCDC50" "02657" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00059132" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00282319" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282320" "" "" "" "1" "" "00004" "{PMID:Vona 2014:24875298}" "" "" "" "" "" "0" "" "" "" "" "00282321" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282322" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282323" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282324" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282325" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282326" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00282327" "" "" "" "1" "" "00004" "{PMID:Modamio-Hoybjor 2007:17503326}" "" "" "" "" "" "0" "" "" "" "" "00282328" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00293302" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293303" "" "" "" "98" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293304" "" "" "" "75" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304943" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00441509" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "5738" "00441544" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "CIC4764" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00059132" "00531" "00282320" "05086" "00282327" "05086" "00293302" "00198" "00293303" "00198" "00293304" "00198" "00304943" "00198" "00441509" "05086" "00441544" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00531, 02657, 05086 ## Count = 4 "{{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}}" "0000046735" "00531" "00059132" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000218140" "05086" "00282320" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218141" "05086" "00282327" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, progressive" "" "0000330947" "05086" "00441509" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059101" "00059132" "1" "01551" "01551" "2016-02-26 16:39:17" "" "" "SEQ;SEQ-NG-I" "DNA;RNA;protein" "" "" "0000283469" "00282319" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283470" "00282320" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283471" "00282321" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283472" "00282322" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283473" "00282323" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283474" "00282324" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283475" "00282325" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283476" "00282326" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283477" "00282327" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283478" "00282328" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000294470" "00293302" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294471" "00293303" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294472" "00293304" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306072" "00304943" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000442995" "00441509" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443030" "00441544" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000059101" "CCDC50" "0000283469" "CCDC50" "0000283470" "CCDC50" "0000283471" "CCDC50" "0000283472" "CCDC50" "0000283473" "CCDC50" "0000283474" "CCDC50" "0000283475" "CCDC50" "0000283476" "CCDC50" "0000283477" "CCDC50" "0000283478" "CCDC50" ## 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 = 42 "{{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}}" "0000089898" "0" "70" "3" "191100597" "191100598" "ins" "0" "01551" "CCDC50_000001" "g.191100597_191100598insTAAT" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.191382808_191382809insTAAT" "" "likely pathogenic" "" "0000248530" "0" "10" "3" "191093080" "191093080" "subst" "0.122201" "02325" "CCDC50_000013" "g.191093080A>G" "" "" "" "CCDC50(NM_178335.3):c.678A>G (p.K226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191375291A>G" "" "benign" "" "0000248814" "0" "10" "3" "191093310" "191093310" "subst" "0.42634" "02325" "CCDC50_000007" "g.191093310A>G" "" "" "" "CCDC50(NM_178335.3):c.908A>G (p.K303R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191375521A>G" "" "benign" "" "0000249029" "0" "10" "3" "191047532" "191047532" "subst" "0.640158" "02325" "CCDC50_000002" "g.191047532A>G" "" "" "" "CCDC50(NM_178335.3):c.49+20A>G, UTS2B(NM_198152.5):c.-665+671T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191329743A>G" "" "benign" "" "0000249031" "0" "10" "3" "191093384" "191093384" "subst" "0.423742" "02325" "CCDC50_000008" "g.191093384A>G" "" "" "" "CCDC50(NM_178335.3):c.976+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191375595A>G" "" "benign" "" "0000254588" "0" "30" "3" "191087752" "191087752" "subst" "4.47609E-5" "01943" "CCDC50_000004" "g.191087752A>G" "" "" "" "CCDC50(NM_178335.2):c.375A>G (p.K125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191369963A>G" "" "likely benign" "" "0000266532" "0" "10" "3" "191098731" "191098731" "subst" "0.533367" "02325" "CCDC50_000010" "g.191098731G>A" "" "" "" "CCDC50(NM_178335.3):c.1242+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191380942G>A" "" "benign" "" "0000266533" "0" "10" "3" "191100561" "191100561" "subst" "0.531386" "02325" "CCDC50_000011" "g.191100561C>A" "" "" "" "CCDC50(NM_178335.3):c.1269C>A (p.S423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191382772C>A" "" "benign" "" "0000266534" "0" "10" "3" "191074873" "191074873" "subst" "0.626781" "02325" "CCDC50_000003" "g.191074873C>G" "" "" "" "CCDC50(NM_178335.3):c.50-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191357084C>G" "" "benign" "" "0000266535" "0" "10" "3" "191093053" "191093053" "subst" "0.426924" "02325" "CCDC50_000005" "g.191093053T>C" "" "" "" "CCDC50(NM_178335.3):c.651T>C (p.H217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191375264T>C" "" "benign" "" "0000266536" "0" "10" "3" "191093175" "191093175" "subst" "0.42661" "02325" "CCDC50_000006" "g.191093175T>A" "" "" "" "CCDC50(NM_178335.3):c.773T>A (p.I258N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191375386T>A" "" "benign" "" "0000266537" "0" "10" "3" "191097966" "191097966" "subst" "0.531317" "02325" "CCDC50_000009" "g.191097966T>C" "" "" "" "CCDC50(NM_178335.3):c.995T>C (p.M332T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191380177T>C" "" "benign" "" "0000272801" "0" "50" "3" "191107396" "191107396" "subst" "0.000373902" "01943" "CCDC50_000012" "g.191107396G>A" "" "" "" "CCDC50(NM_178335.2):c.1429+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191389607G>A" "" "VUS" "" "0000518761" "0" "30" "3" "191075783" "191075783" "subst" "7.31505E-5" "01943" "UTS2D_000001" "g.191075783C>G" "" "" "" "CCDC50(NM_178335.2):c.113-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.191357994C>G" "" "likely benign" "" "0000518762" "0" "50" "3" "191087711" "191087711" "subst" "0" "01943" "UTS2D_000002" "g.191087711A>T" "" "" "" "CCDC50(NM_178335.2):c.334A>T (p.I112L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.191369922A>T" "" "VUS" "" "0000518763" "0" "30" "3" "191093019" "191093019" "subst" "0.000701245" "01943" "UTS2D_000003" "g.191093019C>T" "" "" "" "CCDC50(NM_178335.2):c.617C>T (p.S206F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.191375230C>T" "" "likely benign" "" "0000518764" "0" "30" "3" "191093068" "191093068" "subst" "4.08287E-6" "01943" "UTS2D_000004" "g.191093068G>T" "" "" "" "CCDC50(NM_178335.2):c.666G>T (p.Q222H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.191375279G>T" "" "likely benign" "" "0000518765" "0" "50" "3" "191093222" "191093222" "subst" "2.44489E-5" "02327" "UTS2D_000005" "g.191093222C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.191375433C>T" "" "VUS" "" "0000518766" "0" "30" "3" "191093255" "191093255" "subst" "0" "02327" "UTS2D_000006" "g.191093255C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.191375466C>G" "" "likely benign" "" "0000608449" "0" "30" "3" "191093237" "191093237" "subst" "4.07438E-6" "01943" "UTS2D_000007" "g.191093237T>C" "" "" "" "CCDC50(NM_178335.2):c.835T>C (p.S279P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.191375448T>C" "" "likely benign" "" "0000608450" "0" "30" "3" "191098682" "191098682" "subst" "0.00172601" "01943" "UTS2D_000008" "g.191098682A>G" "" "" "" "CCDC50(NM_178335.2):c.1203A>G (p.K401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.191380893A>G" "" "likely benign" "" "0000639211" "1" "33" "3" "191075827" "191075827" "subst" "4.06507E-5" "00004" "CCDC50_000014" "g.191075827G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.191358038G>A" "" "likely benign" "" "0000639212" "1" "99" "3" "191075901" "191075901" "subst" "0.000260434" "00004" "CCDC50_000015" "g.191075901G>A" "" "{DB:DVD}, {PMID:Vona 2014:24875298}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.191358112G>A" "" "pathogenic" "" "0000639213" "1" "33" "3" "191093151" "191093151" "subst" "0" "00004" "CCDC50_000016" "g.191093151A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.191375362A>G" "" "likely benign" "" "0000639214" "1" "33" "3" "191097974" "191097974" "subst" "0" "00004" "CCDC50_000017" "g.191097974G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.191380185G>A" "" "likely benign" "" "0000639215" "1" "55" "3" "191098623" "191098623" "subst" "0.000415997" "00004" "CCDC50_000018" "g.191098623G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.191380834G>A" "" "VUS" "" "0000639216" "1" "11" "3" "191098682" "191098682" "subst" "0.00172601" "00004" "UTS2D_000008" "g.191098682A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.191380893A>G" "" "benign" "" "0000639217" "1" "55" "3" "191098700" "191098700" "subst" "4.08804E-6" "00004" "CCDC50_000019" "g.191098700A>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.191380911A>C" "" "VUS" "" "0000639218" "1" "33" "3" "191098710" "191098710" "subst" "0" "00004" "CCDC50_000020" "g.191098710C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.191380921C>T" "" "likely benign" "" "0000639219" "1" "99" "3" "191107356" "191107363" "dup" "0" "00004" "CCDC50_000021" "g.191107356_191107363dup" "" "{DB:DVD}, {PMID:Modamio-Hoybjor 2007:17503326}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.191389567_191389574dup" "" "pathogenic" "" "0000639220" "1" "55" "3" "191107396" "191107396" "subst" "0.000373902" "00004" "CCDC50_000012" "g.191107396G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.191389607G>A" "" "VUS" "" "0000651159" "1" "10" "3" "191093285" "191093285" "subst" "0.00255845" "03575" "CCDC50_000022" "g.191093285G>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs75123867}" "Germline" "" "rs75123867" "0" "" "" "g.191375496G>T" "" "benign" "" "0000651160" "1" "10" "3" "191098660" "191098660" "subst" "0.0060988" "03575" "CCDC50_000023" "g.191098660A>G" "98/2779 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "98 heterozygous; {DB:CLININrs114502673}" "Germline" "" "rs114502673" "0" "" "" "g.191380871A>G" "" "benign" "" "0000651161" "1" "10" "3" "191107358" "191107358" "subst" "0.0146878" "03575" "CCDC50_000024" "g.191107358C>T" "75/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "75 heterozygous, no homozygous; {DB:CLININrs147604673}" "Germline" "" "rs147604673" "0" "" "" "g.191389569C>T" "" "benign" "" "0000669760" "3" "10" "3" "191098660" "191098660" "subst" "0.0060988" "03575" "CCDC50_000023" "g.191098660A>G" "3/2779 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs114502673}" "Germline" "" "rs114502673" "0" "" "" "g.191380871A>G" "" "benign" "" "0000719309" "0" "50" "3" "191107320" "191107320" "subst" "3.25008E-5" "01943" "UTS2D_000009" "g.191107320C>T" "" "" "" "CCDC50(NM_178335.2):c.1358C>T (p.A453V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801111" "0" "50" "3" "191098674" "191098674" "subst" "2.04057E-5" "02327" "UTS2D_000010" "g.191098674C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858923" "0" "30" "3" "191093045" "191093045" "subst" "1.2239E-5" "01943" "UTS2D_000011" "g.191093045A>G" "" "" "" "CCDC50(NM_178335.2):c.643A>G (p.N215D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885688" "0" "30" "3" "191078925" "191078925" "subst" "4.06805E-6" "02327" "UTS2D_000012" "g.191078925C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000944354" "0" "70" "3" "191075841" "191075841" "subst" "0" "00006" "CCDC50_000025" "g.191075841T>G" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.191358052T>G" "" "likely pathogenic (dominant)" "" "0000944389" "0" "90" "3" "191078926" "191078926" "subst" "4.06812E-6" "00006" "CCDC50_000026" "g.191078926G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.191361137G>A" "" "VUS" "" "0001033862" "0" "30" "3" "191093189" "191093189" "subst" "2.0391E-5" "01804" "UTS2D_000013" "g.191093189C>T" "" "" "" "CCDC50(NM_178335.3):c.787C>T (p.(Arg263*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CCDC50 ## Count = 42 "{{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}}" "0000089898" "00024111" "70" "1305" "0" "1306" "0" "c.1305_1306insTAAT" "r.(?)" "p.(Asn436*)" "10" "0000248530" "00024111" "10" "678" "0" "678" "0" "c.678A>G" "r.(?)" "p.(Lys226=)" "" "0000248814" "00024111" "10" "908" "0" "908" "0" "c.908A>G" "r.(?)" "p.(Lys303Arg)" "" "0000249029" "00024111" "10" "49" "20" "49" "20" "c.49+20A>G" "r.(=)" "p.(=)" "" "0000249031" "00024111" "10" "976" "6" "976" "6" "c.976+6A>G" "r.(=)" "p.(=)" "" "0000254588" "00024111" "30" "375" "0" "375" "0" "c.375A>G" "r.(?)" "p.(Lys125=)" "" "0000266532" "00024111" "10" "1242" "10" "1242" "10" "c.1242+10G>A" "r.(=)" "p.(=)" "" "0000266533" "00024111" "10" "1269" "0" "1269" "0" "c.1269C>A" "r.(?)" "p.(Ser423=)" "" "0000266534" "00024111" "10" "50" "-4" "50" "-4" "c.50-4C>G" "r.spl?" "p.?" "" "0000266535" "00024111" "10" "651" "0" "651" "0" "c.651T>C" "r.(?)" "p.(His217=)" "" "0000266536" "00024111" "10" "773" "0" "773" "0" "c.773T>A" "r.(?)" "p.(Ile258Asn)" "" "0000266537" "00024111" "10" "995" "0" "995" "0" "c.995T>C" "r.(?)" "p.(Met332Thr)" "" "0000272801" "00024111" "50" "1429" "5" "1429" "5" "c.1429+5G>A" "r.spl?" "p.?" "" "0000518761" "00024111" "30" "113" "-4" "113" "-4" "c.113-4C>G" "r.spl?" "p.?" "" "0000518762" "00024111" "50" "334" "0" "334" "0" "c.334A>T" "r.(?)" "p.(Ile112Leu)" "" "0000518763" "00024111" "30" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Ser206Phe)" "" "0000518764" "00024111" "30" "666" "0" "666" "0" "c.666G>T" "r.(?)" "p.(Gln222His)" "" "0000518765" "00024111" "50" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Ter)" "" "0000518766" "00024111" "30" "853" "0" "853" "0" "c.853C>G" "r.(?)" "p.(Leu285Val)" "" "0000608449" "00024111" "30" "835" "0" "835" "0" "c.835T>C" "r.(?)" "p.(Ser279Pro)" "" "0000608450" "00024111" "30" "1203" "0" "1203" "0" "c.1203A>G" "r.(?)" "p.(Lys401=)" "" "0000639211" "00024111" "33" "153" "0" "153" "0" "c.153G>A" "r.(=)" "p.(=)" "3" "0000639212" "00024111" "99" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76His)" "3" "0000639213" "00024111" "33" "749" "0" "749" "0" "c.749A>G" "r.(?)" "p.(Glu250Gly)" "6" "0000639214" "00024111" "33" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Ala335Thr)" "7" "0000639215" "00024111" "55" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Ala382Thr)" "9" "0000639216" "00024111" "11" "1203" "0" "1203" "0" "c.1203A>G" "r.(=)" "p.(=)" "9" "0000639217" "00024111" "55" "1221" "0" "1221" "0" "c.1221A>C" "r.(?)" "p.(Arg407Ser)" "9" "0000639218" "00024111" "33" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Pro411Ser)" "9" "0000639219" "00024111" "99" "1394" "0" "1401" "0" "c.1394_1401dup" "r.(?)" "p.(Phe468Hisfs*37)" "11" "0000639220" "00024111" "55" "1429" "5" "1429" "5" "c.1429+5G>A" "r.spl?" "p.?" "11i" "0000651159" "00024111" "10" "883" "0" "883" "0" "c.883G>T" "r.(?)" "p.(Asp295Tyr)" "" "0000651160" "00024111" "10" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Lys394Arg)" "" "0000651161" "00024111" "10" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466Trp)" "" "0000669760" "00024111" "10" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Lys394Arg)" "" "0000719309" "00024111" "50" "1358" "0" "1358" "0" "c.1358C>T" "r.(?)" "p.(Ala453Val)" "" "0000801111" "00024111" "50" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399Trp)" "" "0000858923" "00024111" "30" "643" "0" "643" "0" "c.643A>G" "r.(?)" "p.(Asn215Asp)" "" "0000885688" "00024111" "30" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Cys)" "" "0000944354" "00024111" "70" "167" "0" "167" "0" "c.167T>G" "r.(?)" "p.(Leu56Arg)" "" "0000944389" "00024111" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "" "0001033862" "00024111" "30" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000059101" "0000089898" "0000283469" "0000639211" "0000283470" "0000639212" "0000283471" "0000639213" "0000283472" "0000639214" "0000283473" "0000639215" "0000283474" "0000639216" "0000283475" "0000639217" "0000283476" "0000639218" "0000283477" "0000639219" "0000283478" "0000639220" "0000294470" "0000651159" "0000294471" "0000651160" "0000294472" "0000651161" "0000306072" "0000669760" "0000442995" "0000944354" "0000443030" "0000944389"