### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDC14A) # 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}}" "CDC14A" "cell division cycle 14A" "1" "p21" "unknown" "NC_000001.10" "UD_132319128486" "" "https://www.LOVD.nl/CDC14A" "" "1" "1718" "8556" "603504" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CDC14A_NM_003672.3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-27 09:24:36" "00000" "2024-02-26 20:06:56" ## 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}}" "00025866" "CDC14A" "transcript variant 1" "004" "NM_003672.3" "" "NP_003663.2" "" "" "" "-488" "3782" "1785" "100818023" "100985833" "00006" "2023-10-27 09:20:45" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05399" "DFNB32" "deafness, autosomal recessive, type 32 (DFNB-32)" "AR" "608653" "" "autosomal recessive, deafness (female/male), male infertility" "" "00006" "2018-02-24 17:17:28" "00006" "2021-12-10 21:51:32" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CDC14A" "05399" "CDC14A" "05458" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00154471" "" "" "" "5" "" "00006" "{PMID:Imtiaz 2018:29293958}" "4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Tunisia" "" "0" "" "" "" "29293958-FamFT1" "00154472" "" "" "" "5" "" "00006" "{PMID:Imtiaz 2018:29293958}" "4-generation family, 5 affecteds (3F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29293958-FamHLRB11" "00154473" "" "" "" "4" "" "00006" "{PMID:Imtiaz 2018:29293958}" "4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29293958-FamHLAI24" "00154474" "" "" "" "3" "" "00006" "{PMID:Imtiaz 2018:29293958}" "5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Iran" "" "0" "" "" "" "29293958-FamMORL1" "00154475" "" "" "" "3" "" "00006" "{PMID:Imtiaz 2018:29293958}" "6-generation family, 3 affected (2F,M), unaffected heterozygous carrier parents" "F;M" "yes" "Iran" "" "0" "" "" "" "29293958-FamMORL2" "00154476" "" "" "" "2" "" "00006" "{PMID:Imtiaz 2018:29293958}" "4-generation family, 2 affecteds (2M), unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "29293958-FamHPK1" "00154477" "" "" "" "6" "" "00006" "{PMID:Imtiaz 2018:29293958}" "6-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29293958-FamPKDF539" "00154478" "" "" "" "5" "" "00006" "{PMID:Imtiaz 2018:29293958}" "5-generation family, 5 affecteds (2F, 3M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29293958-FamPKSN10" "00269609" "" "" "00402896" "1" "" "02404" "{PMID:Doll 2020:31906439}, {PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "sister" "F" "yes" "Iran" "" "0" "" "" "" "?;Fam9PatIV8" "00269610" "" "" "" "2" "" "02404" "{PMID:Doll 2020:31906439}" "family, two affected males" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00281844" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00281845" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00402896" "" "" "" "2" "" "02404" "{PMID:Doll 2020:31906439}, , {PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "4-generation family, 2 affected sisters, unaffected parents" "F" "yes" "Iran" "" "0" "" "" "" "?;Fam9PatIV2" "00438983" "" "" "" "1" "" "04590" "" "" "" "" "" "" "" "" "" "" "" "00438984" "" "" "" "1" "" "04590" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00154471" "05400" "00154472" "05400" "00154473" "05400" "00154474" "05400" "00154475" "05400" "00154476" "05400" "00154477" "05400" "00154478" "05400" "00269609" "05399" "00269610" "05399" "00281844" "00198" "00281845" "00198" "00402896" "05400" "00438983" "05086" "00438984" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05086, 05399, 05400, 05458 ## Count = 15 "{{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}}" "0000127210" "05400" "00154471" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB-32" "" "" "0000127211" "05400" "00154472" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB-32" "" "" "0000127212" "05400" "00154473" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB-32" "" "" "0000127213" "05400" "00154474" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB-32" "" "" "0000127214" "05400" "00154475" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB-32" "" "" "0000127215" "05400" "00154476" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB-32" "" "" "0000127216" "05400" "00154477" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB-32" "" "" "0000127217" "05400" "00154478" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB-32" "" "" "0000207413" "05399" "00269609" "02404" "Familial, autosomal recessive" "43y" "Congenital onset, severe-to-profound hearing loss" "" "" "" "" "" "" "" "" "Non-syndromic hearing loss" "Non-syndromic hearing loss" "" "0000207414" "05399" "00269610" "02404" "Familial, autosomal recessive" "" "CDC14A has been recognized to cause hearing impairment and infertile male syndrome (HIIMS). We currently do not know the potential impact of the variant on the fertility of the two males in this family." "" "" "" "" "" "" "" "" "Non-syndromic hearing loss" "Non-syndromic hearing loss" "" "0000216422" "00198" "00281844" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing Impairment and Infertile Male Syndrome" "" "0000216423" "00198" "00281845" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing Impairment and Infertile Male Syndrome" "" "0000295647" "05400" "00402896" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000328881" "05086" "00438984" "04590" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000329981" "05086" "00438983" "04590" "Familial, autosomal recessive" "" "Hearing Loss" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000155331" "00154471" "1" "00006" "00006" "2018-02-24 17:23:12" "" "" "SEQ" "DNA" "" "" "0000155332" "00154472" "1" "00006" "00006" "2018-02-24 17:29:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000155333" "00154473" "1" "00006" "00006" "2018-02-24 17:32:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000155334" "00154474" "1" "00006" "00006" "2018-02-24 17:35:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000155335" "00154475" "1" "00006" "00006" "2018-02-24 17:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000155336" "00154476" "1" "00006" "00006" "2018-02-24 17:44:47" "00006" "2018-02-24 17:56:01" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000155337" "00154477" "1" "00006" "00006" "2018-02-24 17:48:05" "" "" "SEQ" "DNA" "" "" "0000155338" "00154478" "1" "00006" "00006" "2018-02-24 17:54:03" "" "" "SEQ" "DNA" "" "" "0000270765" "00269609" "1" "02404" "02404" "2019-12-03 11:21:50" "" "" "RT-PCR;SEQ-NG-I" "DNA;RNA" "" "Minigene analysis" "0000270766" "00269610" "1" "02404" "02404" "2019-12-03 11:49:19" "" "" "expr;RT-PCRq;SEQ-NG-I" "DNA;RNA" "Blood" "" "0000282994" "00281844" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282995" "00281845" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000404137" "00402896" "1" "02404" "02404" "2022-02-13 17:56:19" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000440465" "00438983" "1" "04590" "04590" "2023-10-27 06:54:39" "" "" "arraySNP" "DNA" "" "" "0000440466" "00438984" "1" "04590" "04590" "2023-10-27 07:13:10" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000155331" "CDC14A" "0000155332" "CDC14A" "0000155333" "CDC14A" "0000155334" "CDC14A" "0000155335" "CDC14A" "0000155336" "CDC14A" "0000155337" "CDC14A" "0000155338" "CDC14A" "0000270765" "CDC14A" "0000270766" "CDC14A" "0000282994" "CDC14A" "0000282995" "CDC14A" "0000440465" "CDC14A" "0000440466" "CDC14A" ## 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 = 24 "{{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}}" "0000255974" "0" "50" "1" "100908545" "100908545" "subst" "9.47399E-5" "01943" "CDC14A_000001" "g.100908545A>T" "" "" "" "CDC14A(NM_001319210.1):c.512A>T (p.H171L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100442989A>T" "" "VUS" "" "0000355044" "3" "90" "1" "100933608" "100933608" "subst" "1.22519E-5" "00006" "CDC14A_000002" "g.100933608G>A" "" "{PMID:Imtiaz 2018:29293958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100468052G>A" "" "pathogenic" "" "0000355045" "3" "90" "1" "100889844" "100889844" "del" "2.43801E-5" "00006" "CDC14A_000003" "g.100889844del" "" "{PMID:Imtiaz 2018:29293958}" "" "376delT" "" "Germline" "yes" "" "0" "" "" "g.100424288del" "" "pathogenic" "" "0000355046" "3" "90" "1" "100905515" "100905515" "subst" "8.12902E-6" "00006" "CDC14A_000004" "g.100905515C>G" "" "{PMID:Imtiaz 2018:29293958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100439959C>G" "" "pathogenic" "" "0000355047" "3" "90" "1" "100933607" "100933607" "subst" "0" "00006" "CDC14A_000005" "g.100933607C>G" "" "{PMID:Imtiaz 2018:29293958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100468051C>G" "" "pathogenic" "" "0000355048" "3" "90" "1" "100949996" "100949996" "subst" "4.40044E-6" "00006" "CDC14A_000006" "g.100949996C>T" "" "{PMID:Imtiaz 2018:29293958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100484440C>T" "" "pathogenic" "" "0000355049" "3" "90" "1" "100933509" "100933509" "subst" "0" "00006" "CDC14A_000007" "g.100933509C>G" "" "{PMID:Imtiaz 2018:29293958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100467953C>G" "" "pathogenic" "" "0000355050" "3" "90" "1" "100933632" "100933632" "subst" "4.07209E-6" "00006" "CDC14A_000008" "g.100933632A>C" "" "{PMID:Imtiaz 2018:29293958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100468076A>C" "" "pathogenic" "" "0000355051" "3" "90" "1" "100949903" "100949903" "subst" "4.20274E-6" "00006" "CDC14A_000009" "g.100949903C>T" "" "{PMID:Imtiaz 2018:29293958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100484347C>T" "" "pathogenic" "" "0000502219" "0" "30" "1" "100949904" "100949904" "subst" "0.00223359" "01943" "CDC14A_000011" "g.100949904G>A" "" "" "" "CDC14A(NM_001319210.1):c.1034G>A (p.R345Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100484348G>A" "" "likely benign" "" "0000502220" "0" "30" "1" "100949941" "100949941" "subst" "3.30278E-5" "01943" "CDC14A_000012" "g.100949941T>C" "" "" "" "CDC14A(NM_001319210.1):c.1071T>C (p.S357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100484385T>C" "" "likely benign" "" "0000502221" "0" "30" "1" "100964667" "100964667" "subst" "0.00306581" "01943" "CDC14A_000013" "g.100964667A>G" "" "" "" "CDC14A(NM_001319210.1):c.1604A>G (p.Q535R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100499111A>G" "" "likely benign" "" "0000502222" "0" "90" "1" "100964828" "100964832" "dup" "0" "01943" "CDC14A_000014" "g.100964828_100964832dup" "" "" "" "CDC14A(NM_033312.2):c.1765_1769dupCAGAC (p.P591Rfs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100499272_100499276dup" "" "pathogenic" "" "0000604591" "3" "90" "1" "100963765" "100963765" "subst" "0" "02404" "CDC14A_000015" "g.100963765T>C" "" "{PMID:Doll 2020:31906439}" "" "100963756_100963763del" "" "Germline" "yes" "" "0" "" "" "g.100498209T>C" "" "pathogenic (recessive)" "" "0000604593" "3" "90" "1" "100949911" "100949911" "dup" "0" "02404" "CDC14A_000016" "g.100949911dup" "" "{PMID:Doll 2020:31906439}" "" "1000949910_100949911dup" "expression from blood suggests NMD of the transcript; CDC14A has been recognized to cause hearing impairment and infertile male syndrome (HIIMS). Potential impact of variant on male fertility is currently not known" "Germline" "yes" "" "0" "" "" "g.100484355dup" "" "pathogenic (recessive)" "" "0000638736" "1" "99" "1" "100889844" "100889844" "del" "2.43801E-5" "00004" "CDC14A_000003" "g.100889844del" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100424288del" "" "pathogenic" "" "0000638737" "1" "99" "1" "100933608" "100933608" "subst" "1.22519E-5" "00004" "CDC14A_000002" "g.100933608G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100468052G>A" "" "pathogenic" "" "0000675381" "0" "50" "1" "100964774" "100964774" "subst" "0.00251543" "01943" "CDC14A_000017" "g.100964774G>A" "" "" "" "CDC14A(NM_001319210.1):c.1711G>A (p.G571R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716637" "0" "30" "1" "100949960" "100949960" "subst" "0.00134325" "01943" "CDC14A_000018" "g.100949960A>G" "" "" "" "CDC14A(NM_001319210.1):c.1090A>G (p.I364V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000839737" "3" "90" "1" "100963765" "100963765" "subst" "0" "02404" "CDC14A_000015" "g.100963765T>C" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000936947" "3" "90" "1" "100949870" "100949870" "subst" "0" "04590" "CDC14A_000019" "g.100949870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100484314C>T" "" "pathogenic (recessive)" "" "0000936948" "3" "70" "1" "100928283" "100928283" "subst" "0" "04590" "CDC14A_000020" "g.100928283C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100462727C>A" "" "likely pathogenic (recessive)" "" "0000990047" "0" "50" "1" "100843122" "100843122" "subst" "3.65988E-5" "01804" "CDC14A_000021" "g.100843122C>T" "" "" "" "CDC14A(NM_003672.3):c.161C>T (p.(Pro54Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990048" "0" "30" "1" "100960411" "100960411" "subst" "2.44021E-5" "01804" "CDC14A_000022" "g.100960411G>T" "" "" "" "CDC14A(NM_003672.3):c.1175G>T (p.(Gly392Val))" "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 CDC14A ## Count = 24 "{{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}}" "0000255974" "00025866" "50" "512" "0" "512" "0" "c.512A>T" "r.(?)" "p.(His171Leu)" "" "0000355044" "00025866" "90" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312Gln)" "10" "0000355045" "00025866" "90" "376" "0" "376" "0" "c.376del" "r.(?)" "p.(Tyr126Ilefs*64)" "5" "0000355046" "00025866" "90" "417" "0" "417" "0" "c.417C>G" "r.(?)" "p.(Tyr139*)" "6" "0000355047" "00025866" "90" "934" "0" "934" "0" "c.934C>G" "r.(?)" "p.(Arg312Gly)" "10" "0000355048" "00025866" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376*)" "11" "0000355049" "00025866" "90" "839" "-3" "839" "-3" "c.839-3C>G" "r.[838_839insAG, 839_977del]" "p.?" "9i" "0000355050" "00025866" "90" "959" "0" "959" "0" "c.959A>C" "r.(?)" "p.(Gln320Pro)" "10" "0000355051" "00025866" "90" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Arg345*)" "11" "0000502219" "00025866" "30" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "" "0000502220" "00025866" "30" "1071" "0" "1071" "0" "c.1071T>C" "r.(?)" "p.(Ser357=)" "" "0000502221" "00025866" "30" "1604" "0" "1604" "0" "c.1604A>G" "r.(?)" "p.(Gln535Arg)" "" "0000502222" "00025866" "90" "1755" "10" "1755" "14" "c.1755+10_1755+14dup" "r.(=)" "p.(=)" "" "0000604591" "00025866" "90" "1421" "2" "1421" "2" "c.1421+2T>C" "r.1414_1421del" "p.Val472Leufs*20" "" "0000604593" "00025866" "90" "1041" "0" "1041" "0" "c.1041dup" "r.(?)" "p.(Ser348Glnfs*2)" "11" "0000638736" "00025866" "99" "376" "0" "376" "0" "c.376del" "r.(?)" "p.(Tyr127Ilefs*64)" "5" "0000638737" "00025866" "99" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Cys312Tyr)" "10" "0000675381" "00025866" "50" "1711" "0" "1711" "0" "c.1711G>A" "r.(?)" "p.(Gly571Arg)" "" "0000716637" "00025866" "30" "1090" "0" "1090" "0" "c.1090A>G" "r.(?)" "p.(Ile364Val)" "" "0000839737" "00025866" "90" "1421" "2" "1421" "2" "c.1421+2T>C" "r.spl?" "p.?" "" "0000936947" "00025866" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334*)" "" "0000936948" "00025866" "70" "684" "0" "684" "0" "c.684C>A" "r.(?)" "p.(Asn228Lys)" "" "0000990047" "00025866" "50" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "" "0000990048" "00025866" "30" "1175" "0" "1175" "0" "c.1175G>T" "r.(?)" "p.(Gly392Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000155331" "0000355044" "0000155332" "0000355045" "0000155333" "0000355046" "0000155334" "0000355047" "0000155335" "0000355048" "0000155336" "0000355049" "0000155337" "0000355050" "0000155338" "0000355051" "0000270765" "0000604591" "0000270766" "0000604593" "0000282994" "0000638736" "0000282995" "0000638737" "0000404137" "0000839737" "0000440465" "0000936947" "0000440466" "0000936948"