### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ITGA2)
# 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}}"
"ITGA2"	"integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)"	"5"	"q11.2"	"unknown"	"NG_008330.1"	"UD_132118416914"	""	"http://www.LOVD.nl/ITGA2"	""	"1"	"6137"	"3673"	"192974"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/ITGA2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-06-23 13:48:21"	"00000"	"2025-07-08 13:22:38"


## 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}}"
"00010182"	"ITGA2"	"integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)"	"001"	"NM_002203.3"	""	"NP_002194.2"	""	""	""	"-143"	"7726"	"3546"	"52285156"	"52390609"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"03381"	"cancer, gastric"	"cancer, gastric (Neoplasm of stomach)"	""	"613659"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2017-07-14 15:28:09"
"03579"	"BDPLT9"	"bleeding disorder, platelet type 9 (BDPLT-9)"	""	"614200"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"ITGA2"	"03579"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00104004"	""	""	""	"1"	""	"00587"	"{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}"	"54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer"	""	""	""	""	"0"	""	""	""	"Vogelaar-125A"
"00293881"	""	""	""	"10"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293882"	""	""	""	"8"	""	"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 = 3
"{{individualid}}"	"{{diseaseid}}"
"00104004"	"03381"
"00293881"	"00198"
"00293882"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03381, 03579
## Count = 1
"{{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}}"
"0000081938"	"03381"	"00104004"	"00587"	"Unknown"	""	"diffuse-type or intestinal-type gastric cancer"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000104475"	"00104004"	"1"	"00587"	"00006"	"2017-04-28 08:15:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000295049"	"00293881"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295050"	"00293882"	"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 = 34
"{{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}}"
"0000169306"	"0"	"70"	"5"	"52385812"	"52385812"	"subst"	"8.12883E-6"	"00587"	"ITGA2_000001"	"g.52385812G>A"	""	"{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}"	""	"NM_002203.3(ITGA2):c.3385G>A p.(Glu1129Lys)"	"variant could not be associated with disease phenotype"	"Germline"	""	""	"0"	""	""	"g.53089982G>A"	""	"likely pathogenic"	""
"0000249073"	"0"	"10"	"5"	"52344610"	"52344610"	"subst"	"0.719221"	"02325"	"ITGA2_000002"	"g.52344610A>G"	""	""	""	"ITGA2(NM_002203.4):c.630+10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53048780A>G"	""	"benign"	""
"0000251356"	"0"	"10"	"5"	"52358774"	"52358774"	"del"	"0"	"02326"	"ITGA2_000006"	"g.52358774del"	""	""	""	"ITGA2(NM_002203.4):c.1602+15delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53062944del"	""	"benign"	""
"0000252105"	"0"	"30"	"5"	"52371047"	"52371047"	"subst"	"0.000589232"	"02326"	"ITGA2_000008"	"g.52371047A>G"	""	""	""	"ITGA2(NM_002203.4):c.2742-4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53075217A>G"	""	"likely benign"	""
"0000252615"	"0"	"90"	"5"	"52371049"	"52371049"	"subst"	"2.45525E-5"	"02326"	"ITGA2_000009"	"g.52371049A>G"	""	""	""	"ITGA2(NM_002203.4):c.2742-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53075219A>G"	""	"pathogenic"	""
"0000281567"	"0"	"10"	"5"	"52355854"	"52355854"	"subst"	"0.387919"	"02325"	"ITGA2_000005"	"g.52355854T>C"	""	""	""	"ITGA2(NM_002203.4):c.1312+12T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53060024T>C"	""	"benign"	""
"0000281568"	"0"	"10"	"5"	"52379277"	"52379277"	"subst"	"0.368197"	"02325"	"ITGA2_000010"	"g.52379277C>T"	""	""	""	"ITGA2(NM_002203.4):c.3252C>T (p.F1084=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53083447C>T"	""	"benign"	""
"0000281569"	"0"	"10"	"5"	"52347369"	"52347369"	"subst"	"0.386281"	"02325"	"ITGA2_000003"	"g.52347369C>T"	""	""	""	"ITGA2(NM_002203.4):c.759C>T (p.F253=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53051539C>T"	""	"benign"	""
"0000281570"	"0"	"10"	"5"	"52351413"	"52351413"	"subst"	"0.38848"	"02325"	"ITGA2_000004"	"g.52351413G>A"	""	""	""	"ITGA2(NM_002203.4):c.825G>A (p.T275=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53055583G>A"	""	"benign"	""
"0000525811"	"0"	"30"	"5"	"52365930"	"52365931"	"dup"	"0"	"02326"	"ITGA2_000012"	"g.52365930_52365931dup"	""	""	""	"ITGA2(NM_002203.4):c.2084-8_2084-7dupTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53070100_53070101dup"	""	"likely benign"	""
"0000525812"	"0"	"30"	"5"	"52367758"	"52367758"	"subst"	"2.44758E-5"	"02326"	"ITGA2_000013"	"g.52367758G>A"	""	""	""	"ITGA2(NM_002203.4):c.2236-10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53071928G>A"	""	"likely benign"	""
"0000525813"	"0"	"50"	"5"	"52371049"	"52371049"	"subst"	"2.45525E-5"	"02327"	"ITGA2_000009"	"g.52371049A>G"	""	""	""	"ITGA2(NM_002203.4):c.2742-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53075219A>G"	""	"VUS"	""
"0000525814"	"0"	"30"	"5"	"52377403"	"52377403"	"subst"	"0.00041479"	"02326"	"ITGA2_000014"	"g.52377403G>A"	""	""	""	"ITGA2(NM_002203.4):c.3040-19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53081573G>A"	""	"likely benign"	""
"0000525815"	"0"	"50"	"5"	"52385852"	"52385853"	"ins"	"0"	"01943"	"ITGA2_000015"	"g.52385852_52385853insT"	""	""	""	"ITGA2(NM_002203.3):c.3425_3426insT (p.I1143Nfs*22)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53090022_53090023insT"	""	"VUS"	""
"0000525816"	"0"	"30"	"5"	"52394439"	"52394439"	"subst"	"0.000857786"	"02326"	"ITGA2_000016"	"g.52394439T>C"	""	""	""	"MOCS2(NM_004531.5):c.560A>G (p.N187S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53098609T>C"	""	"likely benign"	""
"0000609756"	"0"	"30"	"5"	"52347371"	"52347371"	"subst"	"0"	"01943"	"ITGA2_000017"	"g.52347371G>A"	""	""	""	"ITGA2(NM_002203.3):c.761G>A (p.G254E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53051541G>A"	""	"likely benign"	""
"0000621576"	"0"	"30"	"5"	"52394489"	"52394489"	"subst"	"0.000187585"	"01943"	"ITGA2_000018"	"g.52394489G>A"	""	""	""	"MOCS2(NM_004531.4):c.510C>T (p.Y170=), MOCS2(NM_004531.5):c.510C>T (p.Y170=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53098659G>A"	""	"likely benign"	""
"0000621577"	"0"	"30"	"5"	"52394489"	"52394489"	"subst"	"0.000187585"	"02326"	"ITGA2_000018"	"g.52394489G>A"	""	""	""	"MOCS2(NM_004531.4):c.510C>T (p.Y170=), MOCS2(NM_004531.5):c.510C>T (p.Y170=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53098659G>A"	""	"likely benign"	""
"0000651738"	"1"	"30"	"5"	"52337983"	"52337983"	"subst"	"0.00245865"	"03575"	"ITGA2_000019"	"g.52337983G>A"	"10/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"10 heterozygous, no homozygous; {DB:CLININrs143262642}"	"Germline"	""	"rs143262642"	"0"	""	""	"g.53042153G>A"	""	"likely benign"	""
"0000651739"	"1"	"30"	"5"	"52386458"	"52386458"	"subst"	"0.00831681"	"03575"	"ITGA2_000020"	"g.52386458G>A"	"8/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"8 heterozygous, no homozygous; {DB:CLININrs13173706}"	"Germline"	""	"rs13173706"	"0"	""	""	"g.53090628G>A"	""	"likely benign"	""
"0000689529"	"0"	"30"	"5"	"52361665"	"52361665"	"subst"	"0.00332271"	"01804"	"ITGA2_000023"	"g.52361665T>C"	""	""	""	"ITGA2(NM_002203.3):c.1807-6T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720451"	"0"	"30"	"5"	"52347366"	"52347366"	"subst"	"0.00304729"	"02327"	"ITGA2_000024"	"g.52347366A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802126"	"0"	"30"	"5"	"52340880"	"52340880"	"subst"	"6.51407E-5"	"01943"	"ITGA2_000025"	"g.52340880C>T"	""	""	""	"ITGA2(NM_002203.3):c.345C>T (p.L115=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802127"	"0"	"30"	"5"	"52367773"	"52367773"	"subst"	"0.000884472"	"01943"	"ITGA2_000026"	"g.52367773C>T"	""	""	""	"ITGA2(NM_002203.3):c.2241C>T (p.P747=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802128"	"0"	"30"	"5"	"52368525"	"52368525"	"subst"	"0.000358072"	"01943"	"ITGA2_000027"	"g.52368525A>G"	""	""	""	"ITGA2(NM_002203.3):c.2429A>G (p.Q810R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802129"	"0"	"30"	"5"	"52376433"	"52376433"	"subst"	"0.00154766"	"02326"	"ITGA2_000022"	"g.52376433T>G"	""	""	""	"ITGA2(NM_002203.4):c.3021T>G (p.T1007=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912350"	"0"	"30"	"5"	"52358769"	"52358769"	"subst"	"0"	"02326"	"ITGA2_000028"	"g.52358769A>T"	""	""	""	"ITGA2(NM_002203.4):c.1602+10A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924361"	"0"	"30"	"5"	"52344487"	"52344487"	"subst"	"0.00331053"	"02326"	"ITGA2_000029"	"g.52344487A>G"	""	""	""	"ITGA2(NM_002203.4):c.517A>G (p.I173V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948562"	"0"	"30"	"5"	"52361685"	"52361685"	"subst"	"1.63098E-5"	"02326"	"ITGA2_000030"	"g.52361685C>T"	""	""	""	"ITGA2(NM_002203.4):c.1821C>T (p.S607=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963634"	"0"	"10"	"5"	"52358774"	"52358774"	"dup"	"0"	"02329"	"ITGA2_000031"	"g.52358774dup"	""	""	""	"ITGA2(NM_002203.4):c.1602+15dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000995087"	"0"	"50"	"5"	"52356865"	"52356865"	"subst"	"2.03691E-5"	"01804"	"ITGA2_000032"	"g.52356865C>T"	""	""	""	"ITGA2(NM_002203.3):c.1447C>T (p.(Arg483*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000995088"	"0"	"30"	"5"	"52394388"	"52394388"	"subst"	"0.00194648"	"02325"	"ITGA2_000033"	"g.52394388T>G"	""	""	""	"MOCS2(NM_176806.4):c.*531A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035238"	"0"	"50"	"5"	"52344584"	"52344584"	"subst"	"4.0702E-6"	"01804"	"ITGA2_000034"	"g.52344584G>T"	""	""	""	"ITGA2(NM_002203.4):c.614G>T (p.(Gly205Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046032"	"0"	"30"	"5"	"52371047"	"52371047"	"subst"	"0.000589232"	"02325"	"ITGA2_000008"	"g.52371047A>G"	""	""	""	"ITGA2(NM_002203.4):c.2742-4A>G"	"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 ITGA2
## Count = 34
"{{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}}"
"0000169306"	"00010182"	"00"	"3385"	"0"	"3385"	"0"	"c.3385G>A"	"r.(?)"	"p.(Glu1129Lys)"	""
"0000249073"	"00010182"	"10"	"630"	"10"	"630"	"10"	"c.630+10A>G"	"r.(=)"	"p.(=)"	""
"0000251356"	"00010182"	"10"	"1602"	"15"	"1602"	"15"	"c.1602+15del"	"r.(=)"	"p.(=)"	""
"0000252105"	"00010182"	"30"	"2742"	"-4"	"2742"	"-4"	"c.2742-4A>G"	"r.spl?"	"p.?"	""
"0000252615"	"00010182"	"90"	"2742"	"-2"	"2742"	"-2"	"c.2742-2A>G"	"r.spl?"	"p.?"	""
"0000281567"	"00010182"	"10"	"1312"	"12"	"1312"	"12"	"c.1312+12T>C"	"r.(=)"	"p.(=)"	""
"0000281568"	"00010182"	"10"	"3252"	"0"	"3252"	"0"	"c.3252C>T"	"r.(?)"	"p.(Phe1084=)"	""
"0000281569"	"00010182"	"10"	"759"	"0"	"759"	"0"	"c.759C>T"	"r.(?)"	"p.(Phe253=)"	""
"0000281570"	"00010182"	"10"	"825"	"0"	"825"	"0"	"c.825G>A"	"r.(?)"	"p.(Thr275=)"	""
"0000525811"	"00010182"	"30"	"2084"	"-9"	"2084"	"-8"	"c.2084-9_2084-8dup"	"r.(=)"	"p.(=)"	""
"0000525812"	"00010182"	"30"	"2236"	"-10"	"2236"	"-10"	"c.2236-10G>A"	"r.(=)"	"p.(=)"	""
"0000525813"	"00010182"	"50"	"2742"	"-2"	"2742"	"-2"	"c.2742-2A>G"	"r.spl?"	"p.?"	""
"0000525814"	"00010182"	"30"	"3040"	"-19"	"3040"	"-19"	"c.3040-19G>A"	"r.(=)"	"p.(=)"	""
"0000525815"	"00010182"	"50"	"3425"	"0"	"3426"	"0"	"c.3425_3426insT"	"r.(?)"	"p.(Ile1143AsnfsTer22)"	""
"0000525816"	"00010182"	"30"	"11556"	"0"	"11556"	"0"	"c.*8010T>C"	"r.(=)"	"p.(=)"	""
"0000609756"	"00010182"	"30"	"761"	"0"	"761"	"0"	"c.761G>A"	"r.(?)"	"p.(Gly254Glu)"	""
"0000621576"	"00010182"	"30"	"11606"	"0"	"11606"	"0"	"c.*8060G>A"	"r.(=)"	"p.(=)"	""
"0000621577"	"00010182"	"30"	"11606"	"0"	"11606"	"0"	"c.*8060G>A"	"r.(=)"	"p.(=)"	""
"0000651738"	"00010182"	"30"	"227"	"0"	"227"	"0"	"c.227G>A"	"r.(?)"	"p.(Arg76Gln)"	""
"0000651739"	"00010182"	"30"	"3575"	"0"	"3575"	"0"	"c.*29G>A"	"r.(=)"	"p.(=)"	""
"0000689529"	"00010182"	"30"	"1807"	"-6"	"1807"	"-6"	"c.1807-6T>C"	"r.(=)"	"p.(=)"	""
"0000720451"	"00010182"	"30"	"756"	"0"	"756"	"0"	"c.756A>C"	"r.(?)"	"p.(Thr252=)"	""
"0000802126"	"00010182"	"30"	"345"	"0"	"345"	"0"	"c.345C>T"	"r.(?)"	"p.(Leu115=)"	""
"0000802127"	"00010182"	"30"	"2241"	"0"	"2241"	"0"	"c.2241C>T"	"r.(?)"	"p.(Pro747=)"	""
"0000802128"	"00010182"	"30"	"2429"	"0"	"2429"	"0"	"c.2429A>G"	"r.(?)"	"p.(Gln810Arg)"	""
"0000802129"	"00010182"	"30"	"3021"	"0"	"3021"	"0"	"c.3021T>G"	"r.(?)"	"p.(Thr1007=)"	""
"0000912350"	"00010182"	"30"	"1602"	"10"	"1602"	"10"	"c.1602+10A>T"	"r.(=)"	"p.(=)"	""
"0000924361"	"00010182"	"30"	"517"	"0"	"517"	"0"	"c.517A>G"	"r.(?)"	"p.(Ile173Val)"	""
"0000948562"	"00010182"	"30"	"1821"	"0"	"1821"	"0"	"c.1821C>T"	"r.(?)"	"p.(=)"	""
"0000963634"	"00010182"	"10"	"1602"	"15"	"1602"	"15"	"c.1602+15dup"	"r.(=)"	"p.(=)"	""
"0000995087"	"00010182"	"50"	"1447"	"0"	"1447"	"0"	"c.1447C>T"	"r.(?)"	"p.(Arg483*)"	""
"0000995088"	"00010182"	"30"	"11505"	"0"	"11505"	"0"	"c.*7959T>G"	"r.(=)"	"p.(=)"	""
"0001035238"	"00010182"	"50"	"614"	"0"	"614"	"0"	"c.614G>T"	"r.(?)"	"p.(Gly205Val)"	""
"0001046032"	"00010182"	"30"	"2742"	"-4"	"2742"	"-4"	"c.2742-4A>G"	"r.spl?"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000104475"	"0000169306"
"0000295049"	"0000651738"
"0000295050"	"0000651739"