### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RPL26)
# 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}}"
"RPL26"	"ribosomal protein L26"	"17"	"p13"	"unknown"	"NG_031989.1"	"UD_132439003041"	""	"https://www.LOVD.nl/RPL26"	""	"1"	"10327"	"6154"	"603704"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/RPL26_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2012-01-06 00:00:00"	"00006"	"2017-07-04 23:19:36"	"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}}"
"00018119"	"RPL26"	"ribosomal protein L26"	"001"	"NM_000987.3"	""	"NP_000978.1"	""	""	""	"-96"	"486"	"438"	"8286565"	"8280834"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"03786"	"DBA11"	"anemia, Diamond-Blackfan, type 11 (DBA-11)"	"AD"	"614900"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05484"	"DBA"	"anemia, Diamond-Blackfan (DBA)"	""	""	""	""	""	"00006"	"2018-10-23 16:08:11"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"RPL26"	"03786"


## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00107907"	""	""	""	"1"	""	"02071"	"Gazda et al., submitted"	""	"F"	""	""	""	"0"	""	""	""	""
"00211104"	""	""	""	"1"	""	"00006"	"{PMID:Ulirsch 2018:30503522}"	""	""	""	""	""	"0"	""	""	""	"30503522-DBAputdel11"
"00211105"	""	""	""	"1"	""	"00006"	"{PMID:Ulirsch 2018:30503522}"	""	""	""	""	""	"0"	""	""	""	"30503522-DBAputdel12"
"00211106"	""	""	""	"1"	""	"00006"	"{PMID:Ulirsch 2018:30503522}"	""	""	""	""	""	"0"	""	""	""	"30503522-DBAputdel13"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00107907"	"03786"
"00211104"	"05484"
"00211105"	"05484"
"00211106"	"05484"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 03786, 05484
## Count = 1
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000085661"	"03786"	"00107907"	"02071"	"Familial, autosomal dominant"	""	"Diamond-Blackfan anemia"	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000108376"	"00107907"	"1"	"02071"	"02071"	"2012-02-13 20:30:38"	""	""	"SEQ"	"DNA"	""	""
"0000212182"	"00211104"	"1"	"00006"	"00006"	"2018-12-30 14:27:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000212183"	"00211105"	"1"	"00006"	"00006"	"2018-12-30 14:27:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000212184"	"00211106"	"1"	"00006"	"00006"	"2018-12-30 14:27:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{geneid}}"
"0000108376"	"RPL26"
"0000212182"	"RPL26"
"0000212183"	"RPL26"
"0000212184"	"RPL26"


## 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 = 6
"{{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}}"
"0000174302"	"0"	"90"	"17"	"8285509"	"8285510"	"del"	"0"	"02071"	"RPL26_000001"	"g.8285509_8285510del"	""	"Gazda et al., submitted"	""	"120_121delGA"	""	"De novo"	""	""	"0"	""	""	"g.8382191_8382192del"	""	"pathogenic"	""
"0000443825"	"0"	"70"	"17"	"8280880"	"8281012"	"del"	"0"	"00006"	"RPL26_000002"	"g.(?_8280880)_(8281012_?)del"	""	"{PMID:Ulirsch 2018:30503522}"	""	""	"putative deletion detected by WES CNV analysis"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000443826"	"0"	"70"	"17"	"8280880"	"8281012"	"del"	"0"	"00006"	"RPL26_000002"	"g.(?_8280880)_(8281012_?)del"	""	"{PMID:Ulirsch 2018:30503522}"	""	""	"putative deletion detected by WES CNV analysis"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000443827"	"0"	"70"	"17"	"8285459"	"8285630"	"del"	"0"	"00006"	"RPL26_000003"	"g.(?_8285459)_(8285630_?)del"	""	"{PMID:Ulirsch 2018:30503522}"	""	""	"putative deletion detected by WES CNV analysis"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000969298"	"0"	"50"	"17"	"8280890"	"8280890"	"subst"	"0"	"02325"	"KRBA2_000001"	"g.8280890G>A"	""	""	""	"RPL26(NM_000987.5):c.430C>T (p.Q144*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042310"	"0"	"50"	"17"	"8289702"	"8289703"	"ins"	"0"	"01804"	"RNF222_000001"	"g.8289702_8289703insGT"	""	""	""	"RPL26(NM_000987.5):c.-3233_-3232insCA"	"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 RPL26
## Count = 6
"{{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}}"
"0000174302"	"00018119"	"90"	"120"	"0"	"121"	"0"	"c.120_121del"	"r.120_121del"	"p.Lys41Valfs*12"	"2"
"0000443825"	"00018119"	"70"	"310"	"-2"	"440"	"0"	"c.(?_310-2)_(*2_?)del"	"r.?"	"p.?"	""
"0000443826"	"00018119"	"70"	"310"	"-2"	"440"	"0"	"c.(?_310-2)_(*2_?)del"	"r.?"	"p.?"	""
"0000443827"	"00018119"	"70"	"-2"	"0"	"168"	"2"	"c.(?_-2)_(168+2_?)del"	"r.?"	"p.0?"	""
"0000969298"	"00018119"	"50"	"430"	"0"	"430"	"0"	"c.430C>T"	"r.(?)"	"p.(Gln144*)"	""
"0001042310"	"00018119"	"50"	"-3233"	"0"	"-3232"	"0"	"c.-3233_-3232insCA"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000108376"	"0000174302"
"0000212182"	"0000443825"
"0000212183"	"0000443826"
"0000212184"	"0000443827"