### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BCS1L)
# 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}}"
"BCS1L"	"BCS1-like (S. cerevisiae)"	"2"	"q35"	"unknown"	"NG_008018.1"	"UD_132118419691"	"{PMID:Visapää et al. 2002:12215968}"	""	"Finnish Disease Database (FinDis) <http://www.findis.org/>"	"1"	"1020"	"617"	"603647"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of <b>Juha Muilu</b> acting as curator until 2015."	""	"g"	"http://databases.lovd.nl/shared/refseq/BCS1L_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00008"	"2012-08-30 00:00:00"	"00006"	"2019-07-21 20:20:20"	"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}}"
"00000278"	"BCS1L"	"transcript variant 1"	"001"	"NM_004328.4"	""	"NP_004319.1"	""	""	""	"-346"	"1317"	"1260"	"219524379"	"219528166"	"00008"	"2012-08-30 16:34:15"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00036"	"BJS"	"Bjornstad syndrome (BJS)"	"AR"	"262000"	""	""	""	"00008"	"2012-08-30 16:23:34"	"00006"	"2021-12-10 21:51:32"
"00037"	"MC3DN1"	"mitochondrial complex III deficiency, nuclear, type 1 (MC3DN-1)]"	"AR"	"124000"	""	""	""	"00008"	"2012-08-30 16:25:23"	"00006"	"2021-12-10 21:51:32"
"00038"	"LS"	"Leigh syndrome (LS)"	"AR;Mi"	"256000"	""	""	""	"00008"	"2012-08-30 16:26:44"	"00006"	"2025-01-31 09:48:07"
"00039"	"GRACILE"	"GRACILE syndrome"	"AR"	"603358"	""	""	""	"00008"	"2012-08-30 16:27:59"	"00006"	"2021-12-10 21:51:32"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"05452"	"MC3DN"	"mitochondrial complex III deficiency, nuclear (MC3DN)]"	""	""	""	""	""	"00006"	"2018-07-09 13:34:27"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{geneid}}"	"{{diseaseid}}"
"BCS1L"	"00036"
"BCS1L"	"00037"
"BCS1L"	"00038"
"BCS1L"	"00039"
"BCS1L"	"00139"
"BCS1L"	"05452"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00292589"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292590"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00292589"	"00198"
"00292590"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00036, 00037, 00038, 00039, 00139, 00198, 05452
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000293757"	"00292589"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293758"	"00292590"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0


## 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 = 45
"{{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}}"
"0000016227"	"0"	"55"	"2"	"219525123"	"219525123"	"subst"	"0"	"00015"	"BCS1L_000001"	"g.219525123T>A"	"0/140 CON"	"{PMID:Visapää et al. 2002:12215968}"	""	"intron 1,  -588T>A"	"1 British patient (com-het) with GRACILE syndrome; pathogenicity not confirmed"	"SUMMARY record"	"?"	""	"0"	""	""	"g.218660400T>A"	""	"VUS"	""
"0000016228"	"0"	"99"	"2"	"219525876"	"219525876"	"subst"	"0.000166497"	"00015"	"BCS1L_000002"	"g.219525876C>T"	"0/140 CON"	"{PMID:Visapää et al. 2002:12215968}"	""	""	"1 British patient (com-het) with GRACILE syndrome"	"SUMMARY record"	"?"	"rs121908576"	""	""	""	"g.218661153C>T"	""	"pathogenic"	""
"0000016229"	"0"	"99"	"2"	"219525942"	"219525942"	"subst"	"0.000499468"	"00015"	"BCS1L_000003"	"g.219525942A>G"	"1/494 FIN (het)"	"{PMID:Visapää et al. 2002:12215968}, {PMID:Fellman et al. 2008:18386115}"	""	""	"functional studies, variant causes functional defect in BCS1L protein; Finnish Major GRACILE mutation: 11 Finnish GRACILE families (hom) and 3 Finnish GRACILE patients (hom),  also 1 British GRACILE patient (com-het)"	"SUMMARY record"	""	"rs28937590"	"0"	""	""	"g.218661219A>G"	""	"pathogenic"	""
"0000016230"	"0"	"77"	"2"	"219526031"	"219526031"	"subst"	"1.21825E-5"	"00015"	"BCS1L_000004"	"g.219526031G>T"	"0/140 CON"	"{PMID:Visapää et al. 2002:12215968}"	""	"intron 2, donor 321G>T"	"1 British patient (com-het) with GRACILE syndrome; splice site, polypeptide truncation"	"SUMMARY record"	"?"	""	"0"	""	""	"g.218661308G>T"	""	"likely pathogenic"	""
"0000016231"	"0"	"77"	"2"	"219526239"	"219526239"	"subst"	"4.06081E-6"	"00015"	"BCS1L_000005"	"g.219526239G>A"	"0/140 CON"	"{PMID:Visapää et al. 2002:12215968}"	""	""	"1 British patient (com-het) with GRACILE syndrome"	"SUMMARY record"	"?"	""	""	""	""	"g.218661516G>A"	""	"likely pathogenic"	""
"0000016232"	"0"	"77"	"2"	"219527696"	"219527696"	"subst"	"0"	"00015"	"BCS1L_000006"	"g.219527696T>C"	"0/140 CON"	"{PMID:Visapää et al. 2002:12215968}"	""	""	"1 British patient (com-het) with GRACILE syndrome"	"SUMMARY record"	"?"	""	""	""	""	"g.218662973T>C"	""	"likely pathogenic"	""
"0000036141"	"3"	"77"	"2"	"219526006"	"219526006"	"subst"	"0"	"00015"	"BCS1L_000007"	"g.219526006C>T"	""	"{PMID: Kasapkara et al. 2014:24655110}"	""	""	"1 patient (hom) with GRACILE syndrome"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.218661283C>T"	""	"likely pathogenic"	""
"0000249678"	"0"	"90"	"2"	"219525942"	"219525942"	"subst"	"0.000499468"	"02325"	"BCS1L_000003"	"g.219525942A>G"	""	""	""	"BCS1L(NM_004328.5):c.232A>G (p.S78G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.218661219A>G"	""	"pathogenic"	""
"0000259715"	"0"	"50"	"2"	"219526620"	"219526620"	"subst"	"0"	"02325"	"BCS1L_000012"	"g.219526620G>A"	""	""	""	"BCS1L(NM_004328.5):c.599G>A (p.R200Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.218661897G>A"	""	"VUS"	""
"0000260374"	"0"	"70"	"2"	"219525915"	"219525915"	"subst"	"6.90322E-5"	"02329"	"BCS1L_000008"	"g.219525915C>T"	""	""	""	"BCS1L(NM_004328.4):c.205C>T (p.R69C), BCS1L(NM_004328.5):c.205C>T (p.R69C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.218661192C>T"	""	"likely pathogenic"	""
"0000260375"	"0"	"90"	"2"	"219526499"	"219526499"	"subst"	"4.07302E-6"	"02329"	"BCS1L_000010"	"g.219526499C>T"	""	""	""	"BCS1L(NM_004328.5):c.478C>T (p.Q160*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.218661776C>T"	""	"pathogenic"	""
"0000328090"	"0"	"50"	"2"	"219527309"	"219527309"	"subst"	"2.84407E-5"	"01804"	"BCS1L_000013"	"g.219527309C>T"	""	""	""	"BCS1L(NM_001079866.1):c.796C>T (p.(Leu266Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.218662586C>T"	""	"VUS"	""
"0000514584"	"0"	"30"	"2"	"219520930"	"219520930"	"subst"	"0"	"01943"	"BCS1L_000014"	"g.219520930T>G"	""	""	""	"ZNF142(NM_001105537.2):c.223A>C (p.I75L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218656207T>G"	""	"likely benign"	""
"0000514585"	"0"	"90"	"2"	"219526207"	"219526207"	"del"	"0"	"01943"	"BCS1L_000015"	"g.219526207del"	""	""	""	"BCS1L(NM_004328.4):c.399delA (p.E133Dfs*25)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218661484del"	""	"pathogenic"	""
"0000514586"	"0"	"10"	"2"	"219526634"	"219526634"	"subst"	"0.00758831"	"01943"	"BCS1L_000016"	"g.219526634G>A"	""	""	""	"BCS1L(NM_004328.4):c.613G>A (p.V205I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218661911G>A"	""	"benign"	""
"0000514588"	"0"	"30"	"2"	"219527326"	"219527326"	"subst"	"6.50063E-5"	"01943"	"BCS1L_000018"	"g.219527326C>T"	""	""	""	"BCS1L(NM_004328.4):c.813C>T (p.S271=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218662603C>T"	""	"likely benign"	""
"0000514589"	"0"	"70"	"2"	"219527657"	"219527657"	"del"	"0"	"01943"	"BCS1L_000019"	"g.219527657del"	""	""	""	"BCS1L(NM_004328.4):c.941delA (p.N314Mfs*16)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218662934del"	""	"likely pathogenic"	""
"0000514590"	"0"	"90"	"2"	"219527906"	"219527906"	"subst"	"1.62443E-5"	"02329"	"BCS1L_000020"	"g.219527906G>A"	""	""	""	"BCS1L(NM_004328.5):c.1057G>A (p.V353M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218663183G>A"	""	"pathogenic"	""
"0000514591"	"0"	"50"	"2"	"219529903"	"219529905"	"del"	"0"	"01804"	"BCS1L_000021"	"g.219529903_219529905del"	""	""	""	"RNF25(NM_022453.2):c.642_644del (p.(Ala215del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218665180_218665182del"	""	"VUS"	""
"0000514592"	"0"	"30"	"2"	"219529924"	"219529924"	"subst"	"0.00342747"	"01804"	"BCS1L_000022"	"g.219529924T>G"	""	""	""	"RNF25(NM_022453.2):c.620A>C (p.(Tyr207Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218665201T>G"	""	"likely benign"	""
"0000607486"	"0"	"50"	"2"	"219525808"	"219525808"	"subst"	"2.43673E-5"	"02327"	"BCS1L_000023"	"g.219525808G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218661085G>A"	""	"VUS"	""
"0000607487"	"0"	"90"	"2"	"219526484"	"219526484"	"subst"	"1.22494E-5"	"02327"	"BCS1L_000024"	"g.219526484C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218661761C>T"	""	"pathogenic"	""
"0000607488"	"0"	"30"	"2"	"219527893"	"219527893"	"subst"	"0.000170601"	"01943"	"BCS1L_000025"	"g.219527893C>T"	""	""	""	"BCS1L(NM_004328.4):c.1044C>T (p.D348=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218663170C>T"	""	"likely benign"	""
"0000607489"	"0"	"30"	"2"	"219527934"	"219527934"	"subst"	"4.06065E-6"	"01943"	"BCS1L_000026"	"g.219527934C>G"	""	""	""	"BCS1L(NM_004328.4):c.1085C>G (p.T362S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.218663211C>G"	""	"likely benign"	""
"0000650446"	"1"	"50"	"2"	"219526571"	"219526571"	"subst"	"0.000162483"	"03575"	"BCS1L_000027"	"g.219526571C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs121908578}"	"Germline"	""	"rs121908578"	"0"	""	""	"g.218661848C>T"	""	"VUS"	""
"0000650447"	"1"	"50"	"2"	"219527384"	"219527384"	"subst"	"2.03649E-5"	"03575"	"BCS1L_000028"	"g.219527384C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs201454788}"	"Germline"	""	"rs201454788"	"0"	""	""	"g.218662661C>T"	""	"VUS"	""
"0000676506"	"0"	"30"	"2"	"219525911"	"219525911"	"subst"	"0.000129958"	"01943"	"BCS1L_000029"	"g.219525911C>T"	""	""	""	"BCS1L(NM_004328.4):c.201C>T (p.L67=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676507"	"0"	"70"	"2"	"219526238"	"219526238"	"subst"	"0"	"01943"	"BCS1L_000030"	"g.219526238C>T"	""	""	""	"BCS1L(NM_004328.4):c.430C>T (p.R144*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000676508"	"0"	"30"	"2"	"219526966"	"219526966"	"subst"	"0.000105603"	"01943"	"BCS1L_000031"	"g.219526966C>T"	""	""	""	"BCS1L(NM_004328.4):c.702C>T (p.C234=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688641"	"0"	"50"	"2"	"219527728"	"219527728"	"subst"	"6.4973E-5"	"01943"	"BCS1L_000032"	"g.219527728G>A"	""	""	""	"BCS1L(NM_004328.4):c.1007+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000718479"	"0"	"70"	"2"	"219525978"	"219525978"	"subst"	"1.21819E-5"	"02329"	"BCS1L_000009"	"g.219525978C>T"	""	""	""	"BCS1L(NM_004328.5):c.268C>T (p.R90C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000718480"	"0"	"70"	"2"	"219526193"	"219526193"	"subst"	"0"	"01943"	"BCS1L_000033"	"g.219526193G>A"	""	""	""	"BCS1L(NM_004328.4):c.385G>A (p.G129R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000718481"	"0"	"90"	"2"	"219526577"	"219526577"	"subst"	"1.2187E-5"	"02329"	"BCS1L_000011"	"g.219526577C>T"	""	""	""	"BCS1L(NM_004328.5):c.556C>T (p.R186*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000800378"	"0"	"30"	"2"	"219527715"	"219527715"	"subst"	"2.03039E-5"	"01943"	"BCS1L_000034"	"g.219527715C>T"	""	""	""	"BCS1L(NM_004328.4):c.999C>T (p.H333=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000849714"	"0"	"50"	"2"	"219525927"	"219525927"	"subst"	"0.000146182"	"01943"	"BCS1L_000035"	"g.219525927C>T"	""	""	""	"BCS1L(NM_004328.4):c.217C>T (p.R73C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000849715"	"0"	"50"	"2"	"219527288"	"219527288"	"subst"	"0.000312834"	"01943"	"BCS1L_000037"	"g.219527288T>A"	""	""	""	"BCS1L(NM_004328.4):c.775T>A (p.S259T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000858319"	"0"	"50"	"2"	"219526148"	"219526148"	"subst"	"8.12117E-5"	"01943"	"BCS1L_000036"	"g.219526148C>T"	""	""	""	"BCS1L(NM_004328.4):c.340C>T (p.R114W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000884874"	"0"	"30"	"2"	"219527893"	"219527893"	"subst"	"0.000170601"	"02326"	"BCS1L_000025"	"g.219527893C>T"	""	""	""	"BCS1L(NM_004328.4):c.1044C>T (p.D348=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911576"	"0"	"50"	"2"	"219526232"	"219526232"	"subst"	"0"	"02327"	"BCS1L_000038"	"g.219526232A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000911577"	"0"	"10"	"2"	"219527712"	"219527712"	"subst"	"0.0428903"	"02325"	"BCS1L_000039"	"g.219527712C>T"	""	""	""	"BCS1L(NM_004328.5):c.996C>T (p.N332=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000911578"	"0"	"10"	"2"	"219527739"	"219527739"	"subst"	"0.00320823"	"02326"	"BCS1L_000040"	"g.219527739G>A"	""	""	""	"BCS1L(NM_004328.4):c.1007+16G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000911579"	"0"	"10"	"2"	"219527866"	"219527866"	"subst"	"0.0703526"	"02325"	"BCS1L_000041"	"g.219527866T>C"	""	""	""	"BCS1L(NM_004328.5):c.1017T>C (p.P339=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923612"	"0"	"90"	"2"	"219525915"	"219525915"	"subst"	"6.90322E-5"	"02326"	"BCS1L_000008"	"g.219525915C>T"	""	""	""	"BCS1L(NM_004328.4):c.205C>T (p.R69C), BCS1L(NM_004328.5):c.205C>T (p.R69C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000974967"	"0"	"70"	"2"	"219526568"	"219526568"	"subst"	"1.21867E-5"	"02327"	"BCS1L_000042"	"g.219526568C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001032979"	"0"	"50"	"2"	"219525839"	"219525839"	"subst"	"4.06101E-6"	"01804"	"BCS1L_000043"	"g.219525839C>A"	""	""	""	"BCS1L(NM_001079866.2):c.129C>A (p.(Phe43Leu))"	"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 BCS1L
## Count = 45
"{{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}}"
"0000016227"	"00000278"	"55"	"-50"	"155"	"-50"	"155"	"c.-50+155T>A"	"r.(=)"	"p.(=)"	"2i"
"0000016228"	"00000278"	"99"	"166"	"0"	"166"	"0"	"c.166C>T"	"r.166c>u"	"p.Arg56*"	"03"
"0000016229"	"00000278"	"99"	"232"	"0"	"232"	"0"	"c.232A>G"	"r.232a>g"	"p.Ser78Gly"	"03"
"0000016230"	"00000278"	"77"	"320"	"1"	"320"	"1"	"c.320+1G>T"	"r.spl"	"p.?"	"3i"
"0000016231"	"00000278"	"77"	"431"	"0"	"431"	"0"	"c.431G>A"	"r.431g>a"	"p.Arg144Gln"	"04"
"0000016232"	"00000278"	"77"	"980"	"0"	"980"	"0"	"c.980T>C"	"r.980u>c"	"p.Val327Ala"	"07"
"0000036141"	"00000278"	"77"	"296"	"0"	"296"	"0"	"c.296C>T"	"r.(296c>u)"	"p.(Pro99Leu)"	"1"
"0000249678"	"00000278"	"90"	"232"	"0"	"232"	"0"	"c.232A>G"	"r.(?)"	"p.(Ser78Gly)"	""
"0000259715"	"00000278"	"50"	"599"	"0"	"599"	"0"	"c.599G>A"	"r.(?)"	"p.(Arg200Gln)"	""
"0000260374"	"00000278"	"70"	"205"	"0"	"205"	"0"	"c.205C>T"	"r.(?)"	"p.(Arg69Cys)"	""
"0000260375"	"00000278"	"90"	"478"	"0"	"478"	"0"	"c.478C>T"	"r.(?)"	"p.(Gln160Ter)"	""
"0000328090"	"00000278"	"50"	"796"	"0"	"796"	"0"	"c.796C>T"	"r.(?)"	"p.(Leu266Phe)"	""
"0000514584"	"00000278"	"30"	"-3795"	"0"	"-3795"	"0"	"c.-3795T>G"	"r.(?)"	"p.(=)"	""
"0000514585"	"00000278"	"90"	"399"	"0"	"399"	"0"	"c.399del"	"r.(?)"	"p.(Glu133AspfsTer25)"	""
"0000514586"	"00000278"	"10"	"613"	"0"	"613"	"0"	"c.613G>A"	"r.(?)"	"p.(Val205Ile)"	""
"0000514588"	"00000278"	"30"	"813"	"0"	"813"	"0"	"c.813C>T"	"r.(?)"	"p.(Ser271=)"	""
"0000514589"	"00000278"	"70"	"941"	"0"	"941"	"0"	"c.941del"	"r.(?)"	"p.(Asn314MetfsTer16)"	""
"0000514590"	"00000278"	"90"	"1057"	"0"	"1057"	"0"	"c.1057G>A"	"r.(?)"	"p.(Val353Met)"	""
"0000514591"	"00000278"	"50"	"3054"	"0"	"3056"	"0"	"c.*1794_*1796del"	"r.(=)"	"p.(=)"	""
"0000514592"	"00000278"	"30"	"3075"	"0"	"3075"	"0"	"c.*1815T>G"	"r.(=)"	"p.(=)"	""
"0000607486"	"00000278"	"50"	"98"	"0"	"98"	"0"	"c.98G>A"	"r.(?)"	"p.(Arg33Gln)"	""
"0000607487"	"00000278"	"90"	"463"	"0"	"463"	"0"	"c.463C>T"	"r.(?)"	"p.(Arg155Ter)"	""
"0000607488"	"00000278"	"30"	"1044"	"0"	"1044"	"0"	"c.1044C>T"	"r.(?)"	"p.(Asp348=)"	""
"0000607489"	"00000278"	"30"	"1085"	"0"	"1085"	"0"	"c.1085C>G"	"r.(?)"	"p.(Thr362Ser)"	""
"0000650446"	"00000278"	"50"	"550"	"0"	"550"	"0"	"c.550C>T"	"r.(?)"	"p.(Arg184Cys)"	""
"0000650447"	"00000278"	"50"	"871"	"0"	"871"	"0"	"c.871C>T"	"r.(?)"	"p.(Arg291*)"	""
"0000676506"	"00000278"	"30"	"201"	"0"	"201"	"0"	"c.201C>T"	"r.(?)"	"p.(Leu67=)"	""
"0000676507"	"00000278"	"70"	"430"	"0"	"430"	"0"	"c.430C>T"	"r.(?)"	"p.(Arg144Ter)"	""
"0000676508"	"00000278"	"30"	"702"	"0"	"702"	"0"	"c.702C>T"	"r.(?)"	"p.(Cys234=)"	""
"0000688641"	"00000278"	"50"	"1007"	"5"	"1007"	"5"	"c.1007+5G>A"	"r.spl?"	"p.?"	""
"0000718479"	"00000278"	"70"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(Arg90Cys)"	""
"0000718480"	"00000278"	"70"	"385"	"0"	"385"	"0"	"c.385G>A"	"r.(?)"	"p.(Gly129Arg)"	""
"0000718481"	"00000278"	"90"	"556"	"0"	"556"	"0"	"c.556C>T"	"r.(?)"	"p.(Arg186Ter)"	""
"0000800378"	"00000278"	"30"	"999"	"0"	"999"	"0"	"c.999C>T"	"r.(?)"	"p.(His333=)"	""
"0000849714"	"00000278"	"50"	"217"	"0"	"217"	"0"	"c.217C>T"	"r.(?)"	"p.(Arg73Cys)"	""
"0000849715"	"00000278"	"50"	"775"	"0"	"775"	"0"	"c.775T>A"	"r.(?)"	"p.(Ser259Thr)"	""
"0000858319"	"00000278"	"50"	"340"	"0"	"340"	"0"	"c.340C>T"	"r.(?)"	"p.(Arg114Trp)"	""
"0000884874"	"00000278"	"30"	"1044"	"0"	"1044"	"0"	"c.1044C>T"	"r.(?)"	"p.(Asp348=)"	""
"0000911576"	"00000278"	"50"	"424"	"0"	"424"	"0"	"c.424A>G"	"r.(?)"	"p.(Thr142Ala)"	""
"0000911577"	"00000278"	"10"	"996"	"0"	"996"	"0"	"c.996C>T"	"r.(?)"	"p.(Asn332=)"	""
"0000911578"	"00000278"	"10"	"1007"	"16"	"1007"	"16"	"c.1007+16G>A"	"r.(=)"	"p.(=)"	""
"0000911579"	"00000278"	"10"	"1017"	"0"	"1017"	"0"	"c.1017T>C"	"r.(?)"	"p.(Pro339=)"	""
"0000923612"	"00000278"	"90"	"205"	"0"	"205"	"0"	"c.205C>T"	"r.(?)"	"p.(Arg69Cys)"	""
"0000974967"	"00000278"	"70"	"547"	"0"	"547"	"0"	"c.547C>T"	"r.(?)"	"p.(Arg183Cys)"	""
"0001032979"	"00000278"	"50"	"129"	"0"	"129"	"0"	"c.129C>A"	"r.(?)"	"p.(Phe43Leu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000293757"	"0000650446"
"0000293758"	"0000650447"