### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PRIMPOL)
# 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}}"
"PRIMPOL"	"primase and polymerase (DNA-directed)"	"4"	"q35.1"	"unknown"	"NC_000004.11"	"UD_139312941433"	""	"http://www.LOVD.nl/PRIMPOL"	""	"1"	"26575"	"201973"	"615421"	"1"	"1"	"1"	"1"	"alias CCDC111"	""	"g"	"http://databases.lovd.nl/shared/refseq/PRIMPOL_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00006"	"2012-09-13 00:00:00"	""	""	"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}}"
"00023989"	"PRIMPOL"	"primase and polymerase (DNA-directed)"	"001"	"NM_152683.2"	""	"NP_689896.1"	""	""	""	"-433"	"1862"	"1683"	"184649613"	"184694958"	"00006"	"2014-12-08 21:44:52"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"03938"	"MYP22"	"myopia, autosomal dominant, type 22 (MYP-22)"	"AD"	"615420"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PRIMPOL"	"03938"


## 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}}"
"00025465"	""	""	""	"11"	""	"00006"	"{PMID:Zhao 2013:23579484}"	"index case 4-generation family, 11 affecteds (6F, 5M), 3 deceased"	"F"	"no"	"China"	""	"0"	""	""	"Chinese, Han"	""
"00025466"	""	""	"00025465"	"7"	""	"00006"	"{PMID:Zhao 2013:23579484}"	"4-generation family, 7 affecteds (4F, 3M), relatives index case"	"-"	"no"	"China"	""	"0"	""	""	"Chinese, Han"	""
"00025467"	""	""	""	"170"	""	"00006"	"{PMID:Zhao 2013:23579484}"	"patients WZHM504 and WZHM672"	"?"	"?"	"China"	""	"0"	""	""	"Chinese, Han"	""
"00025468"	""	""	""	"100"	""	"00006"	"{PMID:Zhao 2013:23579484}"	"patients WZHM1154 and WZHM1245"	"F"	"?"	"China"	""	"0"	""	""	"Chinese, Han"	""
"00383790"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18184070_B"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00025465"	"03938"
"00025466"	"03938"
"00025467"	"03938"
"00025468"	"03938"
"00383790"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 03938, 04214
## Count = 5
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Vision/Astigmatism}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000021578"	"03938"	"00025465"	"00006"	"Familial, autosomal dominant"	""	"see paper; cataract, refractive error -20.00 diopteries, axial length (R=33.7/L=33.5)"	""	"myopia severe"	""	""	""	""	""	""	""	""
"0000021579"	"03938"	"00025466"	"00006"	"Familial, autosomal dominant"	""	"see paper; refractive index -2.50 to -11.0 dipteries (6/7 severe), extended axial length"	""	"myopia"	""	""	""	""	""	""	""	""
"0000021580"	"03938"	"00025467"	"00006"	"Unknown"	""	""	""	"myopia"	""	""	""	""	""	""	""	""
"0000021581"	"03938"	"00025468"	"00006"	"Isolated (sporadic)"	""	"see paper"	""	"myopia severe"	""	""	""	""	""	""	""	""
"0000277575"	"04214"	"00383790"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""


## 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}}"
"0000025467"	"00025465"	"1"	"00006"	"00006"	"2014-12-08 22:16:03"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000025468"	"00025466"	"1"	"00006"	"00006"	"2014-12-08 22:32:31"	""	""	"SEQ"	"DNA"	""	""
"0000025469"	"00025467"	"1"	"00006"	"00006"	"2014-12-08 22:37:20"	""	""	"SEQ"	"DNA"	""	""
"0000025470"	"00025468"	"1"	"00006"	"00006"	"2014-12-08 22:40:50"	""	""	"SEQ"	"DNA"	""	""
"0000385015"	"00383790"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{geneid}}"
"0000025467"	"PRIMPOL"
"0000025468"	"PRIMPOL"
"0000025469"	"PRIMPOL"
"0000025470"	"PRIMPOL"
"0000385015"	"PRIMPOL"


## 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 = 22
"{{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}}"
"0000048349"	"3"	"90"	"4"	"185580578"	"185580578"	"subst"	"0.000410252"	"00006"	"PRIMPOL_000001"	"g.185580578T>G"	""	"{PMID:Zhao 2013:23579484}, {OMIM615421:0001}"	""	""	""	"Germline"	"yes"	"rs200857997"	"0"	""	""	"g.184659424T>G"	""	"pathogenic"	""
"0000048350"	"1"	"90"	"4"	"185580578"	"185580578"	"subst"	"0.000410252"	"00006"	"PRIMPOL_000001"	"g.185580578T>G"	""	"{PMID:Zhao 2013:23579484}, {OMIM615421:0001}"	""	""	""	"Germline"	"yes"	"rs200857997"	"0"	""	""	"g.184659424T>G"	""	"pathogenic"	""
"0000048351"	"0"	"90"	"4"	"185580578"	"185580578"	"subst"	"0.000410252"	"00006"	"PRIMPOL_000001"	"g.185580578T>G"	"2/170 cases"	"{PMID:Zhao 2013:23579484}, {OMIM615421:0001}"	""	""	"not in 340 control chromosomes"	"Unknown"	"?"	""	"0"	""	""	"g.184659424T>G"	""	"pathogenic"	""
"0000048352"	"0"	"90"	"4"	"185580578"	"185580578"	"subst"	"0.000410252"	"00006"	"PRIMPOL_000001"	"g.185580578T>G"	"1/100 cases"	"{PMID:Zhao 2013:23579484}, {OMIM615421:0001}"	""	""	"not in 200 control chromosomes"	"Unknown"	"?"	""	"0"	""	""	"g.184659424T>G"	""	"pathogenic"	""
"0000522231"	"0"	"90"	"4"	"185599491"	"185599491"	"subst"	"2.49424E-5"	"01943"	"MLF1IP_000002"	"g.185599491C>G"	""	""	""	"PRIMPOL(NM_152683.3):c.950C>G (p.S317*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.184678337C>G"	""	"pathogenic"	""
"0000522232"	"0"	"50"	"4"	"185615681"	"185615683"	"del"	"0"	"01943"	"MLF1IP_000003"	"g.185615681_185615683del"	""	""	""	"PRIMPOL(NM_152683.3):c.1431_1433delAGA (p.E478del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.184694527_184694529del"	""	"VUS"	""
"0000677249"	"0"	"50"	"4"	"185599394"	"185599394"	"subst"	"0.000316351"	"01943"	"MLF1IP_000007"	"g.185599394A>G"	""	""	""	"PRIMPOL(NM_001345891.1):c.853A>G (p.T285A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000801598"	"0"	"50"	"4"	"185593346"	"185593346"	"subst"	"0"	"01943"	"MLF1IP_000008"	"g.185593346T>G"	""	""	""	"PRIMPOL(NM_001345891.1):c.576T>G (p.I192M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000811856"	"0"	"70"	"6"	"185583040"	"185583040"	"dup"	"0"	"00000"	"PRIMPOL_000001"	"g.185583040dup"	""	"{PMID:Gao 2019:31054281}"	""	"c.389_390insG, p.Gly131Glyfs27"	"heterozygous, error in annotation:c.389_390insG (c.391dup) causes p.(Val131Glyfs*6) instead of heterozygous, p.(Gly131Glyfs27)"	"Germline"	"?"	""	"0"	""	""	"g.184661886dup"	""	"likely pathogenic"	""
"0000850578"	"0"	"30"	"4"	"185587097"	"185587097"	"subst"	"0.000555537"	"01943"	"MLF1IP_000010"	"g.185587097A>T"	""	""	""	"PRIMPOL(NM_001345891.2):c.435A>T (p.L145F), PRIMPOL(NM_001345899.1):c.435A>T (p.L145F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850579"	"0"	"30"	"4"	"185612821"	"185612821"	"subst"	"0.000569152"	"01943"	"MLF1IP_000012"	"g.185612821T>C"	""	""	""	"PRIMPOL(NM_001345891.2):c.1419T>C (p.C473=), PRIMPOL(NM_152683.3):c.1380T>C (p.C460=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859378"	"0"	"30"	"4"	"185578363"	"185578363"	"subst"	"0.000684362"	"01943"	"MLF1IP_000009"	"g.185578363G>A"	""	""	""	"PRIMPOL(NM_152683.3):c.69G>A (p.P23=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859379"	"0"	"50"	"4"	"185593614"	"185593614"	"subst"	"1.30286E-5"	"01943"	"MLF1IP_000011"	"g.185593614G>A"	""	""	""	"PRIMPOL(NM_001345891.1):c.844G>A (p.G282R), PRIMPOL(NM_152683.4):c.844G>A (p.(Gly282Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000924090"	"0"	"50"	"4"	"185593438"	"185593438"	"subst"	"0"	"02327"	"MLF1IP_000013"	"g.185593438C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000924091"	"0"	"30"	"4"	"185612881"	"185612881"	"del"	"0"	"02330"	"MLF1IP_000014"	"g.185612881del"	""	""	""	"PRIMPOL(NM_001345891.2):c.1464+15delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948304"	"0"	"30"	"4"	"185587097"	"185587097"	"subst"	"0.000555537"	"02330"	"MLF1IP_000010"	"g.185587097A>T"	""	""	""	"PRIMPOL(NM_001345891.2):c.435A>T (p.L145F), PRIMPOL(NM_001345899.1):c.435A>T (p.L145F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948305"	"0"	"30"	"4"	"185599552"	"185599552"	"subst"	"5.60113E-5"	"02330"	"MLF1IP_000015"	"g.185599552T>C"	""	""	""	"PRIMPOL(NM_001345891.2):c.1007+4T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948306"	"0"	"30"	"4"	"185612821"	"185612821"	"subst"	"0.000569152"	"02330"	"MLF1IP_000012"	"g.185612821T>C"	""	""	""	"PRIMPOL(NM_001345891.2):c.1419T>C (p.C473=), PRIMPOL(NM_152683.3):c.1380T>C (p.C460=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976238"	"0"	"30"	"4"	"185618881"	"185618881"	"subst"	"0.000610933"	"01804"	"MLF1IP_000016"	"g.185618881C>T"	""	""	""	"CENPU(NM_024629.4):c.1063G>A (p.(Ala355Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976239"	"0"	"50"	"4"	"185623284"	"185623287"	"del"	"0"	"01804"	"MLF1IP_000017"	"g.185623284_185623287del"	""	""	""	"CENPU(NM_024629.4):c.884_887del (p.(Glu295AlafsTer4))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994229"	"0"	"30"	"4"	"185615856"	"185615856"	"subst"	"8.20452E-6"	"01804"	"MLF1IP_000018"	"g.185615856G>A"	""	""	""	"PRIMPOL(NM_152683.2):c.1606G>A (p.(Glu536Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001051889"	"0"	"50"	"4"	"185593614"	"185593614"	"subst"	"1.30286E-5"	"01804"	"MLF1IP_000011"	"g.185593614G>A"	""	""	""	"PRIMPOL(NM_001345891.1):c.844G>A (p.G282R), PRIMPOL(NM_152683.4):c.844G>A (p.(Gly282Arg))"	"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 PRIMPOL
## Count = 22
"{{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}}"
"0000048349"	"00023989"	"90"	"265"	"0"	"265"	"0"	"c.265T>G"	"r.(?)"	"p.(Tyr89Asp)"	"4"
"0000048350"	"00023989"	"90"	"265"	"0"	"265"	"0"	"c.265T>G"	"r.(?)"	"p.(Tyr89Asp)"	"4"
"0000048351"	"00023989"	"90"	"265"	"0"	"265"	"0"	"c.265T>G"	"r.(?)"	"p.(Tyr89Asp)"	"4"
"0000048352"	"00023989"	"90"	"265"	"0"	"265"	"0"	"c.265T>G"	"r.(?)"	"p.(Tyr89Asp)"	"4"
"0000522231"	"00023989"	"90"	"950"	"0"	"950"	"0"	"c.950C>G"	"r.(?)"	"p.(Ser317Ter)"	""
"0000522232"	"00023989"	"50"	"1431"	"0"	"1433"	"0"	"c.1431_1433del"	"r.(?)"	"p.(Glu478del)"	""
"0000677249"	"00023989"	"50"	"853"	"0"	"853"	"0"	"c.853A>G"	"r.(?)"	"p.(Thr285Ala)"	""
"0000801598"	"00023989"	"50"	"576"	"0"	"576"	"0"	"c.576T>G"	"r.(?)"	"p.(Ile192Met)"	""
"0000811856"	"00023989"	"70"	"391"	"0"	"391"	"0"	"c.391dup"	"r.(?)"	"p.(Val131Glyfs*6)"	""
"0000850578"	"00023989"	"30"	"435"	"0"	"435"	"0"	"c.435A>T"	"r.(?)"	"p.(Leu145Phe)"	""
"0000850579"	"00023989"	"30"	"1380"	"0"	"1380"	"0"	"c.1380T>C"	"r.(?)"	"p.(Cys460=)"	""
"0000859378"	"00023989"	"30"	"69"	"0"	"69"	"0"	"c.69G>A"	"r.(?)"	"p.(Pro23=)"	""
"0000859379"	"00023989"	"50"	"844"	"0"	"844"	"0"	"c.844G>A"	"r.(?)"	"p.(Gly282Arg)"	""
"0000924090"	"00023989"	"50"	"668"	"0"	"668"	"0"	"c.668C>G"	"r.(?)"	"p.(Pro223Arg)"	""
"0000924091"	"00023989"	"30"	"1425"	"15"	"1425"	"15"	"c.1425+15del"	"r.(=)"	"p.(=)"	""
"0000948304"	"00023989"	"30"	"435"	"0"	"435"	"0"	"c.435A>T"	"r.(?)"	"p.(Leu145Phe)"	""
"0000948305"	"00023989"	"30"	"1007"	"4"	"1007"	"4"	"c.1007+4T>C"	"r.spl?"	"p.?"	""
"0000948306"	"00023989"	"30"	"1380"	"0"	"1380"	"0"	"c.1380T>C"	"r.(?)"	"p.(Cys460=)"	""
"0000976238"	"00023989"	"30"	"4631"	"0"	"4631"	"0"	"c.*2948C>T"	"r.(=)"	"p.(=)"	""
"0000976239"	"00023989"	"50"	"9034"	"0"	"9037"	"0"	"c.*7351_*7354del"	"r.(=)"	"p.(=)"	""
"0000994229"	"00023989"	"30"	"1606"	"0"	"1606"	"0"	"c.1606G>A"	"r.(?)"	"p.(Glu536Lys)"	""
"0001051889"	"00023989"	"50"	"844"	"0"	"844"	"0"	"c.844G>A"	"r.(?)"	"p.(Gly282Arg)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000025467"	"0000048349"
"0000025468"	"0000048350"
"0000025469"	"0000048351"
"0000025470"	"0000048352"
"0000385015"	"0000811856"