### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LCT)
# 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}}"
"LCT"	"lactase"	"2"	"q21"	"unknown"	"NG_008104.2"	"UD_132118951069"	"{PMID:Kuokkanen et al. 2006:16400612}"	"https://www.LOVD.nl/LCT"	"Finnish Disease Database (FinDis) <http://www.findis.org/>"	"1"	"6530"	"3938"	"603202"	"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/LCT_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00008"	"2012-08-30 00:00:00"	"00006"	"2019-07-21 20:35:05"	"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}}"
"00000285"	"LCT"	"lactase"	"001"	"NM_002299.2"	""	"NP_002290.2"	""	""	""	"-11"	"6263"	"5784"	"136594750"	"136545415"	"00008"	"2012-08-30 17:36:05"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00046"	"lactase def."	"lactase deficiency, congenital"	"AR"	"223000"	""	""	""	"00008"	"2012-08-30 17:31:00"	"00006"	"2021-12-10 21:51:32"
"00047"	"lactose intol."	"lactose intolerance (lactase persistence/nonpersistence)"	"AD"	"223100"	""	""	""	"00008"	"2012-08-30 17:35:00"	"00006"	"2021-12-10 21:51:32"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"05121"	"MD"	"dystrophy, muscular (MD)"	""	""	""	""	""	"00006"	"2016-01-24 01:27:29"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"LCT"	"00046"
"LCT"	"00047"


## 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}}"
"00019921"	""	""	""	"32"	""	"00006"	"{PMID:Enattah 2002:11788828}"	"9 families, 90 individuals, 32 of 45 non-affecteds"	"-"	"-"	"Finland"	""	"0"	""	""	""	""
"00019922"	""	""	""	"13"	""	"00006"	"{PMID:Enattah 2002:11788828}"	"9 families, 90 individuals, 13 of 45 non-affecteds"	"-"	"-"	"Finland"	""	"0"	""	""	""	""
"00210051"	""	""	""	"1"	""	"03121"	"{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}"	""	"F"	"no"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"KEL"
"00265203"	""	""	""	"1"	""	"00006"	"{PMID:Kiselev 2019:31297131}"	""	"F"	""	"Sweden"	""	"0"	""	""	""	"Pat"
"00304688"	""	""	""	"7"	""	"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 = 5
"{{individualid}}"	"{{diseaseid}}"
"00019921"	"00047"
"00019922"	"00047"
"00210051"	"00047"
"00265203"	"05121"
"00304688"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00046, 00047, 00198, 05121
## Count = 4
"{{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}}"
"0000017694"	"00047"	"00019921"	"00006"	"Familial, autosomal dominant"	""	"lactase persistence"	""	""	""	""	""	""	""	""	""	""	""
"0000017695"	"00047"	"00019922"	"00006"	"Familial, autosomal dominant"	""	"lactase persistence"	""	""	""	""	""	""	""	""	""	""	""
"0000158625"	"00047"	"00210051"	"03121"	"Unknown"	"23y"	""	"05y"	""	""	""	""	""	""	""	""	""	""
"0000203031"	"05121"	"00265203"	"00006"	"Unknown"	"53y"	"see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy"	"44y"	""	""	""	""	""	""	""	""	"muscular dystrophy"	""


## 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}}"
"0000019914"	"00019921"	"1"	"00006"	"00006"	"2014-09-18 22:14:37"	""	""	"SEQ"	"DNA"	""	""
"0000019915"	"00019922"	"1"	"00006"	"00006"	"2014-09-18 22:14:37"	""	""	"SEQ"	"DNA"	""	""
"0000211108"	"00210051"	"1"	"03121"	"03121"	"2018-12-26 03:01:18"	""	""	"SEQ-NG"	"DNA"	"Buccal"	"WES"
"0000266323"	"00265203"	"1"	"00006"	"00006"	"2019-09-14 13:39:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000305817"	"00304688"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{geneid}}"
"0000019914"	"LCT"
"0000019914"	"MCM6"
"0000019915"	"LCT"
"0000019915"	"MCM6"
"0000266323"	"MYOF"


## 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 = 73
"{{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}}"
"0000016730"	"0"	"99"	"2"	"136590751"	"136590752"	"del"	"0"	"00015"	"LCT_000001"	"g.136590751_136590752del"	"0/556 FIN CON"	"{PMID:Kuokkanen et al. 2006:16400612}"	""	"c.653_654delCT:S218fsX224"	"1 Finnish family (com-het) with lactase deficiency, congenital"	"SUMMARY record"	"yes"	""	""	""	""	"g.135833181_135833182del"	""	"pathogenic"	""
"0000016731"	"0"	"77"	"2"	"136587163"	"136587163"	"subst"	"0"	"00015"	"LCT_000002"	"g.136587163C>G"	"0/556 FIN CON"	"{PMID:Kuokkanen et al. 2006:16400612}"	""	"c.804G>C: Q268H"	"1 Finnish family (com-het) with lactase deficiency, congenital"	"SUMMARY record"	"yes"	"rs121908937"	""	""	""	"g.135829593C>G"	""	"likely pathogenic"	""
"0000016732"	"0"	"99"	"2"	"136574924"	"136574928"	"del"	"0"	"00015"	"LCT_000003"	"g.136574924_136574928del"	"0/98 FIN CON"	"{PMID:Torniainen et al. 2009:19161632}"	""	"c.1692-1696delAGTGG: V565fsX567"	"1 Finnish patient (com-het) with lactase deficiency, congenital"	"SUMMARY record"	"yes"	""	""	""	""	"g.135817354_135817358del"	""	"pathogenic"	""
"0000016733"	"21"	"77"	"2"	"136570172"	"136570172"	"subst"	"0"	"00015"	"LCT_000004"	"g.136570172A>G"	"0/101 ITA CON"	"{PMID:Torniainen et al. 2009:19161632}"	""	"c.2062T>C (S688P)"	"1 Italian family (com-het) with lactase deficiency, congenital"	"SUMMARY record"	"yes"	"rs76854071"	""	""	""	"g.135812602A>G"	""	"likely pathogenic"	""
"0000016734"	"0"	"77"	"2"	"136564784"	"136564784"	"subst"	"4.06085E-6"	"00015"	"LCT_000005"	"g.136564784C>T"	"0/556 FIN CON"	"{PMID:Kuokkanen et al. 2006:16400612}"	""	"c.4087G>A: G1363S"	"1 Finnish family (com-het) with lactase deficiency, congenital"	"SUMMARY record"	"yes"	""	""	""	""	"g.135807214C>T"	""	"likely pathogenic"	""
"0000016735"	"0"	"99"	"2"	"136564701"	"136564701"	"subst"	"0.000890686"	"00015"	"LCT_000006"	"g.136564701A>T"	"4/140 NIL CON"	"{PMID:Kuokkanen et al. 2006:16400612}, {PMID:Torniainen et al. 2009:19161632}"	""	"c.4170T>A: Y1390X"	"Finnish major mutation (FINMajor) for lactase deficiency, congenital: 26 Finnish families (most hom) with the disease"	"SUMMARY record"	"yes"	"rs121908936"	""	""	""	"g.135807131A>T"	""	"pathogenic"	""
"0000016736"	"21"	"77"	"2"	"136562382"	"136562382"	"subst"	"0"	"00015"	"LCT_000007"	"g.136562382G>C"	""	"{PMID:Uchida et al. 2012:22688420}"	""	"c.4419C>G (p.Y1473X)"	"1 Japanese family (com-het) with probable lactase deficiency, congenital"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.135804812G>C"	""	"likely pathogenic"	""
"0000016737"	"11"	"77"	"2"	"136558283"	"136558283"	"subst"	"2.43726E-5"	"00015"	"LCT_000008"	"g.136558283C>T"	"0/98 FIN CON"	"{PMID:Torniainen et al. 2009:19161632}"	""	"c.4760G>A (R1587H)"	"1 Finnish patient (com-het) with lactase deficiency, congenital"	"SUMMARY record"	"yes"	"rs146614143"	""	""	""	"g.135800713C>T"	""	"likely pathogenic"	""
"0000016738"	"11"	"99"	"2"	"136558209"	"136558209"	"subst"	"0"	"00015"	"LCT_000009"	"g.136558209C>A"	"0/101 ITA CON"	"{PMID:Torniainen et al. 2009:19161632}"	""	"c.4834G>T  (E1612X)"	"1 Italian family (com-het) with lactase deficiency, congenital"	"SUMMARY record"	"yes"	""	""	""	""	"g.135800639C>A"	""	"pathogenic"	""
"0000016739"	"0"	"99"	"2"	"136552324"	"136552327"	"del"	"0"	"00015"	"LCT_000010"	"g.136552324_136552327del"	"0/556 FIN CON"	"{PMID:Kuokkanen et al. 2006:16400612}"	""	"c.4998_5001delTGAG: S1666fsX1722"	"2 Finnish families (com-het) with lactase deficiency, congenital"	"SUMMARY record"	"yes"	""	""	""	""	"g.135794754_135794757del"	""	"pathogenic"	""
"0000016740"	"11"	"77"	"2"	"136547317"	"136547317"	"del"	"0"	"00015"	"LCT_000011"	"g.136547317del"	""	"{PMID:Uchida et al. 2012:22688420}"	""	"c.5387delA (p.D1796fs)"	"1 Japanese family (com-het) with probable lactase deficiency, congenital"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.135789747del"	""	"likely pathogenic"	""
"0000040410"	"1"	"70"	"2"	"136608646"	"136608646"	"subst"	"0"	"00006"	"MCM6_000001"	"g.136608646G>A"	"32/45 controls"	"{PMID:Enattah 2002:11788828}, {OMIM601806:0001}"	""	"-13910C/T"	"predicted to disrupt transcription factor AP-2 binding site, possible long-range cis-transcriptional effect on developmental stage–specific regulation LCT"	"Germline"	"yes"	"rs4988235"	"0"	""	""	"g.135851076G>A"	""	"likely pathogenic"	""
"0000040411"	"1"	"30"	"2"	"136616754"	"136616754"	"subst"	"0"	"00006"	"MCM6_000002"	"g.136616754C>T"	"32/45 controls"	"{PMID:Enattah 2002:11788828}, {OMIM601806:0002}"	""	"LCT -22018G/A"	""	"Germline"	"yes"	"rs182549"	"0"	""	""	"g.135859184C>T"	""	"likely benign"	""
"0000040412"	"3"	"70"	"2"	"136608646"	"136608646"	"subst"	"0"	"00006"	"MCM6_000001"	"g.136608646G>A"	"13/45 controls"	"{PMID:Enattah 2002:11788828}, {OMIM601806:0001}"	""	"LCT -13910C/T"	"predicted to disrupt transcription factor AP-2 binding site, possible long-range cis-transcriptional effect on developmental stage–specific regulation LCT"	"Germline"	"yes"	"rs4988235"	"0"	""	""	"g.135851076G>A"	""	"likely pathogenic"	""
"0000040413"	"3"	"30"	"2"	"136616754"	"136616754"	"subst"	"0"	"00006"	"MCM6_000002"	"g.136616754C>T"	"13/45 controls"	"{PMID:Enattah 2002:11788828}, {OMIM601806:0002}"	""	"LCT -22018G/A"	""	"Germline"	"yes"	"rs182549"	"0"	""	""	"g.135859184C>T"	""	"likely benign"	""
"0000248494"	"0"	"10"	"2"	"136546110"	"136546110"	"subst"	"0.622594"	"02325"	"LCT_000012"	"g.136546110A>G"	""	""	""	"LCT(NM_002299.4):c.5568T>C (p.A1856=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135788540A>G"	""	"benign"	""
"0000254396"	"0"	"30"	"2"	"136562454"	"136562454"	"subst"	"0.00904808"	"01943"	"LCT_000019"	"g.136562454A>G"	""	""	""	"LCT(NM_002299.2):c.4347T>C (p.F1449=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135804884A>G"	""	"likely benign"	""
"0000282123"	"0"	"10"	"2"	"136575534"	"136575534"	"subst"	"0.995298"	"02325"	"LCT_000025"	"g.136575534T>C"	""	""	""	"LCT(NM_002299.4):c.1084A>G (p.I362V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135817964T>C"	""	"benign"	""
"0000282124"	"0"	"10"	"2"	"136575199"	"136575199"	"subst"	"0.559926"	"02325"	"LCT_000024"	"g.136575199G>T"	""	""	""	"LCT(NM_002299.4):c.1419C>A (p.G473=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135817629G>T"	""	"benign"	""
"0000282125"	"0"	"10"	"2"	"136561557"	"136561557"	"subst"	"0.758765"	"02325"	"LCT_000015"	"g.136561557G>A"	""	""	""	"LCT(NM_002299.4):c.4606C>T (p.L1536=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135803987G>A"	""	"benign"	""
"0000282126"	"0"	"10"	"2"	"136558157"	"136558157"	"subst"	"0.563184"	"02325"	"LCT_000013"	"g.136558157C>T"	""	""	""	"LCT(NM_002299.4):c.4866+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135800587C>T"	""	"benign"	""
"0000285914"	"0"	"10"	"2"	"136590746"	"136590746"	"subst"	"0.240156"	"02326"	"LCT_000026"	"g.136590746C>T"	""	""	""	"LCT(NM_002299.2):c.655G>A (p.V219I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135833176C>T"	""	"benign"	""
"0000290887"	"0"	"30"	"2"	"136567460"	"136567460"	"subst"	"0.00175948"	"01943"	"LCT_000023"	"g.136567460G>A"	""	""	""	"LCT(NM_002299.2):c.2457C>T (p.H819=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135809890G>A"	""	"likely benign"	""
"0000290888"	"0"	"10"	"2"	"136567154"	"136567154"	"subst"	"0.00679018"	"01943"	"LCT_000022"	"g.136567154C>T"	""	""	""	"LCT(NM_002299.2):c.2763G>A (p.A921=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135809584C>T"	""	"benign"	""
"0000290889"	"0"	"10"	"2"	"136564693"	"136564695"	"del"	"0"	"01943"	"LCT_000020"	"g.136564693_136564695del"	""	""	""	"LCT(NM_002299.2):c.4173+6_4173+8delGAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135807123_135807125del"	""	"benign"	""
"0000290890"	"0"	"50"	"2"	"136562398"	"136562398"	"subst"	"1.62506E-5"	"01943"	"LCT_000018"	"g.136562398G>A"	""	""	""	"LCT(NM_002299.2):c.4403C>T (p.A1468V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135804828G>A"	""	"VUS"	""
"0000290891"	"0"	"50"	"2"	"136562354"	"136562354"	"subst"	"0.000322026"	"01943"	"LCT_000017"	"g.136562354C>A"	""	""	""	"LCT(NM_002299.2):c.4447G>T (p.A1483S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135804784C>A"	""	"VUS"	""
"0000290892"	"0"	"50"	"2"	"136561587"	"136561587"	"subst"	"0.000661988"	"01943"	"LCT_000016"	"g.136561587G>A"	""	""	""	"LCT(NM_002299.2):c.4576C>T (p.L1526=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135804017G>A"	""	"VUS"	""
"0000290893"	"0"	"30"	"2"	"136561517"	"136561517"	"subst"	"0.000805081"	"01943"	"LCT_000014"	"g.136561517T>C"	""	""	""	"LCT(NM_002299.2):c.4646A>G (p.Y1549C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.135803947T>C"	""	"likely benign"	""
"0000442528"	"0"	"70"	"2"	"136555659"	"136555659"	"subst"	"0.606537"	"03121"	"LCT_000028"	"g.136555659T>C"	""	"{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.135798089T>C"	""	"likely pathogenic"	""
"0000442529"	"0"	"50"	"2"	"136545844"	"136545844"	"subst"	"0.796691"	"03121"	"LCT_000027"	"g.136545844C>G"	""	"{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.135788274C>G"	""	"VUS"	""
"0000442530"	"0"	"50"	"2"	"136570613"	"136570613"	"subst"	"0"	"03121"	"LCT_000029"	"g.136570613A>T"	""	"{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.135813043A>T"	""	"VUS"	""
"0000442531"	"0"	"50"	"2"	"136590558"	"136590558"	"subst"	"0"	"03121"	"LCT_000030"	"g.136590558C>T"	""	"{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.135832988C>T"	""	"VUS"	""
"0000509264"	"0"	"10"	"2"	"136546110"	"136546110"	"subst"	"0.622594"	"02327"	"LCT_000012"	"g.136546110A>G"	""	""	""	"LCT(NM_002299.4):c.5568T>C (p.A1856=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135788540A>G"	""	"benign"	""
"0000509265"	"0"	"10"	"2"	"136555659"	"136555659"	"subst"	"0.606537"	"02327"	"LCT_000028"	"g.136555659T>C"	""	""	""	"LCT(NM_002299.4):c.4916A>G (p.N1639S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135798089T>C"	""	"benign"	""
"0000509266"	"0"	"10"	"2"	"136555659"	"136555659"	"subst"	"0.606537"	"02325"	"LCT_000028"	"g.136555659T>C"	""	""	""	"LCT(NM_002299.4):c.4916A>G (p.N1639S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135798089T>C"	""	"benign"	""
"0000509267"	"0"	"10"	"2"	"136558157"	"136558157"	"subst"	"0.563184"	"02327"	"LCT_000013"	"g.136558157C>T"	""	""	""	"LCT(NM_002299.4):c.4866+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135800587C>T"	""	"benign"	""
"0000509268"	"0"	"10"	"2"	"136561557"	"136561557"	"subst"	"0.758765"	"02327"	"LCT_000015"	"g.136561557G>A"	""	""	""	"LCT(NM_002299.4):c.4606C>T (p.L1536=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135803987G>A"	""	"benign"	""
"0000509269"	"0"	"30"	"2"	"136561706"	"136561706"	"subst"	"7.32458E-5"	"01943"	"LCT_000031"	"g.136561706G>A"	""	""	""	"LCT(NM_002299.2):c.4465-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135804136G>A"	""	"likely benign"	""
"0000509270"	"0"	"30"	"2"	"136564845"	"136564845"	"subst"	"0.000812137"	"01943"	"LCT_000032"	"g.136564845C>T"	""	""	""	"LCT(NM_002299.2):c.4026G>A (p.T1342=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135807275C>T"	""	"likely benign"	""
"0000509271"	"0"	"30"	"2"	"136566257"	"136566257"	"subst"	"3.25288E-5"	"01943"	"LCT_000033"	"g.136566257C>A"	""	""	""	"LCT(NM_002299.2):c.3660G>T (p.R1220S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135808687C>A"	""	"likely benign"	""
"0000509272"	"0"	"90"	"2"	"136566588"	"136566592"	"del"	"0"	"01943"	"LCT_000034"	"g.136566588_136566592del"	""	""	""	"LCT(NM_002299.2):c.3327_3331delTGAGA (p.D1109Efs*34)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135809018_135809022del"	""	"pathogenic"	""
"0000509273"	"0"	"50"	"2"	"136566823"	"136566823"	"subst"	"0.000263977"	"01943"	"LCT_000035"	"g.136566823C>T"	""	""	""	"LCT(NM_002299.2):c.3094G>A (p.G1032S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135809253C>T"	""	"VUS"	""
"0000509274"	"0"	"10"	"2"	"136566911"	"136566911"	"subst"	"0.00127525"	"01943"	"LCT_000036"	"g.136566911C>T"	""	""	""	"LCT(NM_002299.2):c.3006G>A (p.R1002=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135809341C>T"	""	"benign"	""
"0000509275"	"0"	"50"	"2"	"136567157"	"136567157"	"subst"	"0.000791994"	"01943"	"LCT_000037"	"g.136567157G>A"	""	""	""	"LCT(NM_002299.2):c.2760C>T (p.G920=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135809587G>A"	""	"VUS"	""
"0000509276"	"0"	"10"	"2"	"136575199"	"136575199"	"subst"	"0.559926"	"02327"	"LCT_000024"	"g.136575199G>T"	""	""	""	"LCT(NM_002299.4):c.1419C>A (p.G473=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135817629G>T"	""	"benign"	""
"0000509277"	"0"	"10"	"2"	"136575534"	"136575534"	"subst"	"0.995298"	"02327"	"LCT_000025"	"g.136575534T>C"	""	""	""	"LCT(NM_002299.4):c.1084A>G (p.I362V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135817964T>C"	""	"benign"	""
"0000509278"	"0"	"10"	"2"	"136590746"	"136590746"	"subst"	"0.240156"	"02327"	"LCT_000026"	"g.136590746C>T"	""	""	""	"LCT(NM_002299.2):c.655G>A (p.V219I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135833176C>T"	""	"benign"	""
"0000509279"	"0"	"10"	"2"	"136594158"	"136594158"	"subst"	"0.550435"	"02325"	"LCT_000038"	"g.136594158G>A"	""	""	""	"LCT(NM_002299.4):c.582C>T (p.T194=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135836588G>A"	""	"benign"	""
"0000596962"	"0"	"50"	"2"	"136547188"	"136547188"	"subst"	"8.12559E-6"	"00006"	"LCT_000039"	"g.136547188C>T"	""	"{PMID:Kiselev 2019:31297131}"	""	""	""	"Germline"	""	"rs750409138"	"0"	""	""	"g.135789618C>T"	""	"VUS"	""
"0000606097"	"0"	"10"	"2"	"136562472"	"136562472"	"subst"	"0.169406"	"02327"	"LCT_000040"	"g.136562472G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135804902G>A"	""	"benign"	""
"0000606098"	"0"	"30"	"2"	"136570332"	"136570332"	"subst"	"0.000105586"	"01943"	"LCT_000042"	"g.136570332G>A"	""	""	""	"LCT(NM_002299.2):c.1902C>T (p.P634=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135812762G>A"	""	"likely benign"	""
"0000606099"	"0"	"30"	"2"	"136595623"	"136595623"	"subst"	"0"	"02327"	"LCT_000043"	"g.136595623C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135838053C>T"	""	"likely benign"	""
"0000606100"	"0"	"10"	"2"	"136595706"	"136595706"	"subst"	"0"	"02327"	"LCT_000044"	"g.136595706G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135838136G>A"	""	"benign"	""
"0000620731"	"0"	"30"	"2"	"136562616"	"136562616"	"subst"	"0.000158472"	"01943"	"LCT_000041"	"g.136562616C>T"	""	""	""	"LCT(NM_002299.2):c.4185G>A (p.A1395=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135805046C>T"	""	"likely benign"	""
"0000654193"	"0"	"50"	"2"	"136562437"	"136562437"	"subst"	"0"	"01943"	"LCT_000045"	"g.136562437C>A"	""	""	""	"LCT(NM_002299.2):c.4364G>T (p.R1455L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.135804867C>A"	""	"VUS"	""
"0000669505"	"3"	"30"	"2"	"136545465"	"136545465"	"subst"	"0"	"03575"	"LCT_000046"	"g.136545465T>G"	"7/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"7 homozygous; {DB:CLININrs77631953}"	"Germline"	""	"rs77631953"	"0"	""	""	"g.135787895T>G"	""	"likely benign"	""
"0000676016"	"0"	"30"	"2"	"136566467"	"136566467"	"subst"	"4.06154E-5"	"01943"	"LCT_000047"	"g.136566467G>A"	""	""	""	"LCT(NM_002299.2):c.3450C>T (p.S1150=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688322"	"0"	"30"	"2"	"136566632"	"136566632"	"subst"	"0.000273182"	"01943"	"LCT_000048"	"g.136566632G>A"	""	""	""	"LCT(NM_002299.2):c.3285C>T (p.H1095=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688323"	"0"	"50"	"2"	"136575048"	"136575048"	"subst"	"0.00011371"	"01943"	"LCT_000049"	"g.136575048C>T"	""	""	""	"LCT(NM_002299.2):c.1570G>A (p.A524T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688324"	"0"	"30"	"2"	"136575505"	"136575505"	"subst"	"4.066E-6"	"01943"	"LCT_000050"	"g.136575505C>G"	""	""	""	"LCT(NM_002299.2):c.1113G>C (p.R371S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717840"	"0"	"70"	"2"	"136555597"	"136555597"	"subst"	"0"	"02327"	"LCT_000051"	"g.136555597A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000717841"	"0"	"30"	"2"	"136567166"	"136567166"	"subst"	"3.24897E-5"	"01943"	"LCT_000052"	"g.136567166C>T"	""	""	""	"LCT(NM_002299.2):c.2751G>A (p.Q917=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717842"	"0"	"50"	"2"	"136570171"	"136570171"	"subst"	"0"	"01943"	"LCT_000053"	"g.136570171G>A"	""	""	""	"LCT(NM_002299.2):c.2063C>T (p.S688F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717843"	"0"	"30"	"2"	"136570242"	"136570242"	"subst"	"2.84511E-5"	"01943"	"LCT_000054"	"g.136570242G>A"	""	""	""	"LCT(NM_002299.2):c.1992C>T (p.P664=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717844"	"0"	"30"	"2"	"136598443"	"136598443"	"subst"	"0.00030082"	"01943"	"LCT_000055"	"g.136598443A>G"	""	""	""	"MCM6(NM_005915.5):c.2428T>C (p.Y810H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848951"	"0"	"30"	"2"	"136562636"	"136562636"	"subst"	"0.000134195"	"01943"	"LCT_000057"	"g.136562636G>A"	""	""	""	"LCT(NM_002299.2):c.4174-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848952"	"0"	"30"	"2"	"136575505"	"136575505"	"subst"	"0.00147189"	"01943"	"LCT_000058"	"g.136575505C>T"	""	""	""	"LCT(NM_002299.2):c.1113G>A (p.R371=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857696"	"0"	"30"	"2"	"136547346"	"136547346"	"subst"	"0"	"01943"	"LCT_000056"	"g.136547346A>C"	""	""	""	"LCT(NM_002299.2):c.5358T>G (p.L1786=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883733"	"0"	"30"	"2"	"136545910"	"136545910"	"subst"	"0.00375115"	"02327"	"LCT_000059"	"g.136545910G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883734"	"0"	"30"	"2"	"136562454"	"136562454"	"subst"	"0.00904808"	"02327"	"LCT_000019"	"g.136562454A>G"	""	""	""	"LCT(NM_002299.2):c.4347T>C (p.F1449=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883735"	"0"	"30"	"2"	"136567154"	"136567154"	"subst"	"0.00679018"	"02327"	"LCT_000022"	"g.136567154C>T"	""	""	""	"LCT(NM_002299.2):c.2763G>A (p.A921=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000923288"	"0"	"30"	"2"	"136570091"	"136570091"	"subst"	"8.12282E-6"	"02326"	"LCT_000060"	"g.136570091G>C"	""	""	""	"LCT(NM_002299.2):c.2143C>G (p.H715D)"	"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 LCT
## Count = 73
"{{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}}"
"0000016730"	"00000285"	"99"	"653"	"0"	"654"	"0"	"c.653_654del"	"r.(653_654del)"	"p.(Ser218Cysfs*6)"	"2"
"0000016731"	"00000285"	"77"	"804"	"0"	"804"	"0"	"c.804G>C"	"r.(804g>c)"	"p.(Gln268His)"	"4"
"0000016732"	"00000285"	"99"	"1692"	"0"	"1696"	"0"	"c.1692_1696del"	"r.(?)"	"p.(Val565Leufs*3)"	"6"
"0000016733"	"00000285"	"77"	"2062"	"0"	"2062"	"0"	"c.2062T>C"	"r.(2062u>c)"	"p.(Ser688Pro)"	"8"
"0000016734"	"00000285"	"77"	"4087"	"0"	"4087"	"0"	"c.4087G>A"	"r.(4087g>a)"	"p.(Gly1363Ser)"	"9"
"0000016735"	"00000285"	"99"	"4170"	"0"	"4170"	"0"	"c.4170T>A"	"r.(4170u>a)"	"p.(Tyr1390*)"	"9"
"0000016736"	"00000285"	"77"	"4419"	"0"	"4419"	"0"	"c.4419C>G"	"r.(4419c>g)"	"p.(Tyr1473*)"	"10"
"0000016737"	"00000285"	"77"	"4760"	"0"	"4760"	"0"	"c.4760G>A"	"r.(4760g>a)"	"p.(Arg1587His)"	"12"
"0000016738"	"00000285"	"99"	"4834"	"0"	"4834"	"0"	"c.4834G>T"	"r.(4834g>u)"	"p.(Glu1612*)"	"12"
"0000016739"	"00000285"	"99"	"4998"	"0"	"5001"	"0"	"c.4998_5001del"	"r.(4998_5001del)"	"p.(Ser1666Argfs*56)"	"14"
"0000016740"	"00000285"	"77"	"5387"	"0"	"5387"	"0"	"c.5387del"	"r.(?)"	"p.(Asp1796Alafs*18)"	"16"
"0000040410"	"00000285"	"70"	"0"	"0"	"0"	"0"	"-"	"r.(?)"	"p.(?)"	"_1"
"0000040411"	"00000285"	"30"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000040412"	"00000285"	"70"	"0"	"0"	"0"	"0"	"-"	"r.(?)"	"p.(?)"	"_1"
"0000040413"	"00000285"	"30"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000248494"	"00000285"	"10"	"5568"	"0"	"5568"	"0"	"c.5568T>C"	"r.(?)"	"p.(Ala1856=)"	""
"0000254396"	"00000285"	"30"	"4347"	"0"	"4347"	"0"	"c.4347T>C"	"r.(?)"	"p.(Phe1449=)"	""
"0000282123"	"00000285"	"10"	"1084"	"0"	"1084"	"0"	"c.1084A>G"	"r.(?)"	"p.(Ile362Val)"	""
"0000282124"	"00000285"	"10"	"1419"	"0"	"1419"	"0"	"c.1419C>A"	"r.(?)"	"p.(Gly473=)"	""
"0000282125"	"00000285"	"10"	"4606"	"0"	"4606"	"0"	"c.4606C>T"	"r.(?)"	"p.(Leu1536=)"	""
"0000282126"	"00000285"	"10"	"4866"	"20"	"4866"	"20"	"c.4866+20G>A"	"r.(=)"	"p.(=)"	""
"0000285914"	"00000285"	"10"	"655"	"0"	"655"	"0"	"c.655G>A"	"r.(?)"	"p.(Val219Ile)"	""
"0000290887"	"00000285"	"30"	"2457"	"0"	"2457"	"0"	"c.2457C>T"	"r.(?)"	"p.(His819=)"	""
"0000290888"	"00000285"	"10"	"2763"	"0"	"2763"	"0"	"c.2763G>A"	"r.(?)"	"p.(Ala921=)"	""
"0000290889"	"00000285"	"10"	"4173"	"6"	"4173"	"8"	"c.4173+6_4173+8del"	"r.(=)"	"p.(=)"	""
"0000290890"	"00000285"	"50"	"4403"	"0"	"4403"	"0"	"c.4403C>T"	"r.(?)"	"p.(Ala1468Val)"	""
"0000290891"	"00000285"	"50"	"4447"	"0"	"4447"	"0"	"c.4447G>T"	"r.(?)"	"p.(Ala1483Ser)"	""
"0000290892"	"00000285"	"50"	"4576"	"0"	"4576"	"0"	"c.4576C>T"	"r.(?)"	"p.(Leu1526=)"	""
"0000290893"	"00000285"	"30"	"4646"	"0"	"4646"	"0"	"c.4646A>G"	"r.(?)"	"p.(Tyr1549Cys)"	""
"0000442528"	"00000285"	"70"	"4916"	"0"	"4916"	"0"	"c.4916A>G"	"r.(?)"	"p.(Asn1639Ser)"	""
"0000442529"	"00000285"	"50"	"5834"	"0"	"5834"	"0"	"c.*50G>C"	"r.(?)"	"p.(=)"	""
"0000442530"	"00000285"	"50"	"1708"	"-87"	"1708"	"-87"	"c.1708-87T>A"	"r.(?)"	"p.(=)"	""
"0000442531"	"00000285"	"50"	"720"	"123"	"720"	"123"	"c.720+123G>A"	"r.(?)"	"p.(=)"	""
"0000509264"	"00000285"	"10"	"5568"	"0"	"5568"	"0"	"c.5568T>C"	"r.(?)"	"p.(Ala1856=)"	""
"0000509265"	"00000285"	"10"	"4916"	"0"	"4916"	"0"	"c.4916A>G"	"r.(?)"	"p.(Asn1639Ser)"	""
"0000509266"	"00000285"	"10"	"4916"	"0"	"4916"	"0"	"c.4916A>G"	"r.(?)"	"p.(Asn1639Ser)"	""
"0000509267"	"00000285"	"10"	"4866"	"20"	"4866"	"20"	"c.4866+20G>A"	"r.(=)"	"p.(=)"	""
"0000509268"	"00000285"	"10"	"4606"	"0"	"4606"	"0"	"c.4606C>T"	"r.(?)"	"p.(Leu1536=)"	""
"0000509269"	"00000285"	"30"	"4465"	"-8"	"4465"	"-8"	"c.4465-8C>T"	"r.(=)"	"p.(=)"	""
"0000509270"	"00000285"	"30"	"4026"	"0"	"4026"	"0"	"c.4026G>A"	"r.(?)"	"p.(Thr1342=)"	""
"0000509271"	"00000285"	"30"	"3660"	"0"	"3660"	"0"	"c.3660G>T"	"r.(?)"	"p.(Arg1220Ser)"	""
"0000509272"	"00000285"	"90"	"3327"	"0"	"3331"	"0"	"c.3327_3331del"	"r.(?)"	"p.(Asp1109GlufsTer34)"	""
"0000509273"	"00000285"	"50"	"3094"	"0"	"3094"	"0"	"c.3094G>A"	"r.(?)"	"p.(Gly1032Ser)"	""
"0000509274"	"00000285"	"10"	"3006"	"0"	"3006"	"0"	"c.3006G>A"	"r.(?)"	"p.(Arg1002=)"	""
"0000509275"	"00000285"	"50"	"2760"	"0"	"2760"	"0"	"c.2760C>T"	"r.(?)"	"p.(Gly920=)"	""
"0000509276"	"00000285"	"10"	"1419"	"0"	"1419"	"0"	"c.1419C>A"	"r.(?)"	"p.(Gly473=)"	""
"0000509277"	"00000285"	"10"	"1084"	"0"	"1084"	"0"	"c.1084A>G"	"r.(?)"	"p.(Ile362Val)"	""
"0000509278"	"00000285"	"10"	"655"	"0"	"655"	"0"	"c.655G>A"	"r.(?)"	"p.(Val219Ile)"	""
"0000509279"	"00000285"	"10"	"582"	"0"	"582"	"0"	"c.582C>T"	"r.(?)"	"p.(Thr194=)"	""
"0000596962"	"00000285"	"50"	"5516"	"0"	"5516"	"0"	"c.5516G>A"	"r.(?)"	"p.(Gly1839Asp)"	""
"0000606097"	"00000285"	"10"	"4329"	"0"	"4329"	"0"	"c.4329C>T"	"r.(?)"	"p.(Gly1443=)"	""
"0000606098"	"00000285"	"30"	"1902"	"0"	"1902"	"0"	"c.1902C>T"	"r.(?)"	"p.(Pro634=)"	""
"0000606099"	"00000285"	"30"	"-884"	"0"	"-884"	"0"	"c.-884G>A"	"r.(?)"	"p.(=)"	""
"0000606100"	"00000285"	"10"	"-967"	"0"	"-967"	"0"	"c.-967C>T"	"r.(?)"	"p.(=)"	""
"0000620731"	"00000285"	"30"	"4185"	"0"	"4185"	"0"	"c.4185G>A"	"r.(?)"	"p.(Ala1395=)"	""
"0000654193"	"00000285"	"50"	"4364"	"0"	"4364"	"0"	"c.4364G>T"	"r.(?)"	"p.(Arg1455Leu)"	""
"0000669505"	"00000285"	"30"	"6213"	"0"	"6213"	"0"	"c.*429A>C"	"r.(=)"	"p.(=)"	""
"0000676016"	"00000285"	"30"	"3450"	"0"	"3450"	"0"	"c.3450C>T"	"r.(?)"	"p.(Ser1150=)"	""
"0000688322"	"00000285"	"30"	"3285"	"0"	"3285"	"0"	"c.3285C>T"	"r.(?)"	"p.(His1095=)"	""
"0000688323"	"00000285"	"50"	"1570"	"0"	"1570"	"0"	"c.1570G>A"	"r.(?)"	"p.(Ala524Thr)"	""
"0000688324"	"00000285"	"30"	"1113"	"0"	"1113"	"0"	"c.1113G>C"	"r.(?)"	"p.(Arg371Ser)"	""
"0000717840"	"00000285"	"70"	"4976"	"2"	"4976"	"2"	"c.4976+2T>C"	"r.spl?"	"p.?"	""
"0000717841"	"00000285"	"30"	"2751"	"0"	"2751"	"0"	"c.2751G>A"	"r.(?)"	"p.(Gln917=)"	""
"0000717842"	"00000285"	"50"	"2063"	"0"	"2063"	"0"	"c.2063C>T"	"r.(?)"	"p.(Ser688Phe)"	""
"0000717843"	"00000285"	"30"	"1992"	"0"	"1992"	"0"	"c.1992C>T"	"r.(?)"	"p.(Pro664=)"	""
"0000717844"	"00000285"	"30"	"-3704"	"0"	"-3704"	"0"	"c.-3704T>C"	"r.(?)"	"p.(=)"	""
"0000848951"	"00000285"	"30"	"4174"	"-9"	"4174"	"-9"	"c.4174-9C>T"	"r.(=)"	"p.(=)"	""
"0000848952"	"00000285"	"30"	"1113"	"0"	"1113"	"0"	"c.1113G>A"	"r.(?)"	"p.(Arg371=)"	""
"0000857696"	"00000285"	"30"	"5358"	"0"	"5358"	"0"	"c.5358T>G"	"r.(?)"	"p.(Leu1786=)"	""
"0000883733"	"00000285"	"30"	"5768"	"0"	"5768"	"0"	"c.5768C>A"	"r.(?)"	"p.(Pro1923Gln)"	""
"0000883734"	"00000285"	"30"	"4347"	"0"	"4347"	"0"	"c.4347T>C"	"r.(?)"	"p.(Phe1449=)"	""
"0000883735"	"00000285"	"30"	"2763"	"0"	"2763"	"0"	"c.2763G>A"	"r.(?)"	"p.(Ala921=)"	""
"0000923288"	"00000285"	"30"	"2143"	"0"	"2143"	"0"	"c.2143C>G"	"r.(?)"	"p.(His715Asp)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{variantid}}"
"0000019914"	"0000040410"
"0000019914"	"0000040411"
"0000019915"	"0000040412"
"0000019915"	"0000040413"
"0000211108"	"0000442528"
"0000211108"	"0000442529"
"0000211108"	"0000442530"
"0000211108"	"0000442531"
"0000266323"	"0000596962"
"0000305817"	"0000669505"