### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CDC20)
# 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}}"
"CDC20"	"cell division cycle 20"	"1"	"p34.1"	"unknown"	"NC_000001.10"	"UD_132455751428"	""	"https://www.LOVD.nl/CDC20"	""	"1"	"1723"	"991"	"603618"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/CDC20_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2020-10-29 17:01:00"	"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}}"
"00004776"	"CDC20"	"cell division cycle 20 homolog (S. cerevisiae)"	"001"	"NM_001255.2"	""	"NP_001246.2"	""	""	""	"-101"	"1574"	"1500"	"43824626"	"43828874"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"05370"	"INFF"	"infertility, female (INFF)"	""	""	""	""	""	"00006"	"2017-12-29 16:08:25"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CDC20"	"05370"


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00315870"	""	""	""	"1"	""	"00006"	"{PMID:Zhao 2020:32666501}"	"2-generation family, 1 affected, unaffected parents"	"F"	"yes"	"China"	""	"0"	""	""	""	"Fam1"
"00315871"	""	""	""	"1"	""	"00006"	"{PMID:Zhao 2020:32666501}"	"2-generation family, 1 affected, unaffected parents"	"F"	"yes"	"China"	""	"0"	""	""	""	"Fam2"
"00315872"	""	""	""	"1"	""	"00006"	"{PMID:Zhao 2020:32666501}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"China"	""	"0"	""	""	""	"Fam3"
"00315873"	""	""	""	"1"	""	"00006"	"{PMID:Zhao 2020:32666501}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"China"	""	"0"	""	""	""	"Fam4"
"00315874"	""	""	""	"1"	""	"00006"	"{PMID:Zhao 2020:32666501}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"China"	""	"0"	""	""	""	"Fam5"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00315870"	"05370"
"00315871"	"05370"
"00315872"	"05370"
"00315873"	"05370"
"00315874"	"05370"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05370
## Count = 5
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000239615"	"05370"	"00315870"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., female infertility"	""	""	""	""	""	""	""	"infertility"
"0000239616"	"05370"	"00315871"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., female infertility"	""	""	""	""	""	""	""	"infertility"
"0000239617"	"05370"	"00315872"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., female infertility"	""	""	""	""	""	""	""	"infertility"
"0000239618"	"05370"	"00315873"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., female infertility"	""	""	""	""	""	""	""	"infertility"
"0000239619"	"05370"	"00315874"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., female infertility"	""	""	""	""	""	""	""	"infertility"


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000317050"	"00315870"	"1"	"00006"	"00006"	"2020-10-29 17:19:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000317051"	"00315871"	"1"	"00006"	"00006"	"2020-10-29 17:19:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000317052"	"00315872"	"1"	"00006"	"00006"	"2020-10-29 17:19:22"	""	""	"SEQ"	"DNA"	""	""
"0000317053"	"00315873"	"1"	"00006"	"00006"	"2020-10-29 17:19:22"	""	""	"SEQ"	"DNA"	""	""
"0000317054"	"00315874"	"1"	"00006"	"00006"	"2020-10-29 17:19:22"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{geneid}}"
"0000317050"	"CDC20"
"0000317051"	"CDC20"
"0000317052"	"CDC20"
"0000317053"	"CDC20"
"0000317054"	"CDC20"


## 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 = 13
"{{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}}"
"0000347857"	"0"	"50"	"1"	"43830946"	"43830946"	"subst"	"0"	"02327"	"ELOVL1_000001"	"g.43830946T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43365275T>A"	""	"VUS"	""
"0000699232"	"3"	"90"	"1"	"43825990"	"43825990"	"subst"	"4.06062E-6"	"00006"	"CDC20_000003"	"g.43825990A>G"	""	"{PMID:Zhao 2020:32666501}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43360319A>G"	""	"pathogenic (recessive)"	""
"0000699233"	"3"	"90"	"1"	"43827978"	"43827978"	"subst"	"0"	"00006"	"CDC20_000007"	"g.43827978T>G"	""	"{PMID:Zhao 2020:32666501}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43362307T>G"	""	"pathogenic (recessive)"	""
"0000699234"	"21"	"90"	"1"	"43825756"	"43825756"	"subst"	"0"	"00006"	"CDC20_000002"	"g.43825756C>T"	""	"{PMID:Zhao 2020:32666501}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43360085C>T"	""	"pathogenic (recessive)"	""
"0000699235"	"21"	"90"	"1"	"43826226"	"43826229"	"dup"	"0"	"00006"	"CDC20_000004"	"g.43826226_43826229dup"	""	"{PMID:Zhao 2020:32666501}"	""	"813_814insAGTG"	""	"Germline"	""	""	"0"	""	""	"g.43360555_43360558dup"	""	"pathogenic (recessive)"	""
"0000699236"	"21"	"90"	"1"	"43826520"	"43826520"	"subst"	"8.93379E-5"	"00006"	"CDC20_000005"	"g.43826520G>A"	""	"{PMID:Zhao 2020:32666501}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43360849G>A"	""	"pathogenic (recessive)"	""
"0000699237"	"11"	"90"	"1"	"43826520"	"43826520"	"subst"	"8.93379E-5"	"00006"	"CDC20_000005"	"g.43826520G>A"	""	"{PMID:Zhao 2020:32666501}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43360849G>A"	""	"pathogenic (recessive)"	""
"0000699238"	"11"	"90"	"1"	"43826520"	"43826520"	"subst"	"8.93379E-5"	"00006"	"CDC20_000005"	"g.43826520G>A"	""	"{PMID:Zhao 2020:32666501}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43360849G>A"	""	"pathogenic (recessive)"	""
"0000699239"	"11"	"90"	"1"	"43826889"	"43826892"	"del"	"0"	"00006"	"CDC20_000006"	"g.43826889_43826892del"	""	"{PMID:Zhao 2020:32666501}"	""	"1176_1179delTCTG"	""	"Germline"	""	""	"0"	""	""	"g.43361218_43361221del"	""	"pathogenic (recessive)"	""
"0000799373"	"0"	"30"	"1"	"43829730"	"43829730"	"subst"	"0.000255821"	"01943"	"CDC20_000008"	"g.43829730T>C"	""	""	""	"ELOVL1(NM_001256399.1):c.697A>G (p.I233V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911078"	"0"	"30"	"1"	"43831227"	"43831227"	"subst"	"0.000259886"	"02330"	"CDC20_000009"	"g.43831227C>G"	""	""	""	"ELOVL1(NM_001256399.2):c.46+8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947252"	"0"	"30"	"1"	"43831228"	"43831228"	"subst"	"0.00164861"	"02330"	"CDC20_000010"	"g.43831228G>A"	""	""	""	"ELOVL1(NM_001256399.2):c.46+7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961058"	"0"	"30"	"1"	"43830676"	"43830676"	"subst"	"0"	"02330"	"CDC20_000011"	"g.43830676G>A"	""	""	""	"ELOVL1(NM_001256399.2):c.241C>T (p.L81=)"	"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 CDC20
## Count = 13
"{{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}}"
"0000347857"	"00004776"	"50"	"3646"	"0"	"3646"	"0"	"c.*2146T>A"	"r.(=)"	"p.(=)"	""
"0000699232"	"00004776"	"90"	"683"	"0"	"683"	"0"	"c.683A>G"	"r.(?)"	"p.(Tyr228Cys)"	""
"0000699233"	"00004776"	"90"	"1316"	"0"	"1316"	"0"	"c.1316T>G"	"r.(?)"	"p.(Leu439Arg)"	""
"0000699234"	"00004776"	"90"	"544"	"0"	"544"	"0"	"c.544C>T"	"r.(?)"	"p.(Arg182*)"	""
"0000699235"	"00004776"	"90"	"813"	"0"	"814"	"0"	"c.813_814insAGTG"	"r.(?)"	"p.(Gly272Serfs*24)"	""
"0000699236"	"00004776"	"90"	"965"	"0"	"965"	"0"	"c.965G>A"	"r.(?)"	"p.(Arg322Gln)"	""
"0000699237"	"00004776"	"90"	"965"	"0"	"965"	"0"	"c.965G>A"	"r.(?)"	"p.(Arg322Gln)"	""
"0000699238"	"00004776"	"90"	"965"	"0"	"965"	"0"	"c.965G>A"	"r.(?)"	"p.(Arg322Gln)"	""
"0000699239"	"00004776"	"90"	"1176"	"0"	"1179"	"0"	"c.1176_1179del"	"r.(?)"	"p.(Cys392*)"	""
"0000799373"	"00004776"	"30"	"2430"	"0"	"2430"	"0"	"c.*930T>C"	"r.(=)"	"p.(=)"	""
"0000911078"	"00004776"	"30"	"3927"	"0"	"3927"	"0"	"c.*2427C>G"	"r.(=)"	"p.(=)"	""
"0000947252"	"00004776"	"30"	"3928"	"0"	"3928"	"0"	"c.*2428G>A"	"r.(=)"	"p.(=)"	""
"0000961058"	"00004776"	"30"	"3376"	"0"	"3376"	"0"	"c.*1876G>A"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}"	"{{variantid}}"
"0000317050"	"0000699232"
"0000317051"	"0000699233"
"0000317052"	"0000699234"
"0000317052"	"0000699237"
"0000317053"	"0000699235"
"0000317053"	"0000699238"
"0000317054"	"0000699236"
"0000317054"	"0000699239"