### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SP7)
# 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}}"
"SP7"	"Sp7 transcription factor"	"12"	"q13.13"	"unknown"	"NG_023391.2"	"UD_132085340040"	""	"https://www.LOVD.nl/SP7"	"Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases <http://www.le.ac.uk/genetics/collagen/>\r\nOsteogenesis Imperfecta Federation Europe (OIFE) <https://oife.org>"	"1"	"17321"	"121340"	"606633"	"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.\r\nThis database is supported by <a href=\"https://oife.org/\" target=\"_blank\"><img src=\"gfx/LOVD_logo_OIFE.png\" width=\"120\"> Osteogenesis Imperfecta Federation Europe (OIFE)</a>"	""	"g"	"https://databases.lovd.nl/shared/refseq/SP7_codingDNA.html"	"1"	""	"<img src=\"gfx/LOVD_logo_IDdatabase.png\"><br><b>Osteogenesis Imperfecta Variant Database</b>\r\n<form action=\"\" id=\"SelectGeneDBOI\" method=\"get\" style=\"margin : 0px;\" onsubmit=\"document.location.href=(document.location.href.replace(\'SP7\', $(this).children(\'select\').val())); return false;\">\r\n<select name=\"select_db\" onchange=\"$(this).parent().submit();\">\r\n<option value=\"BMP1\" selected>BMP1 (bone morphogenetic protein 1)</option>\r\n<option value=\"CCDC134\">CCDC134 (coiled-coil domain containing 134)</option>\r\n<option value=\"COL1A1\">COL1A1 (collagen type I alpha 1 chain)</option>\r\n<option value=\"COL1A2\">COL1A2 (collagen type I alpha 2 chain)</option>\r\n<option value=\"CREB3L1\">CREB3L1 (cAMP responsive element binding protein 3 like 1)</option>\r\n<option value=\"CRTAP\">CRTAP (cartilage associated protein)</option>\r\n<option value=\"FAM46A\">FAM46A/TENT5A (family with sequence similarity 46 member A)</option>\r\n<option value=\"FKBP10\">FKBP10 (FKBP prolyl isomerase 10)</option>\r\n<option value=\"IFITM5\">IFITM5 (interferon induced transmembrane protein 5)</option>\r\n<option value=\"KDELR2\">KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)</option>\r\n<option value=\"LRP5\">LRP5 (LDL receptor related protein 5)</option>\r\n<option value=\"MBTPS2\">MBTPS2 (membrane bound transcription factor peptidase, site 2)</option>\r\n<option value=\"MESDC2\">MESDC2/MESD (mesoderm development candidate 2)</option>\r\n<option value=\"P3H1\">P3H1 (prolyl 3-hydroxylase 1)</option>\r\n<option value=\"P4HB\">P4HB (prolyl 4-hydroxylase subunit beta)</option>\r\n<option value=\"PLOD2\">PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)</option>\r\n<option value=\"PLS3\">PLS3 (plastin 3)</option>\r\n<option value=\"PPIB\">PPIB (peptidylprolyl isomerase B)</option>\r\n<option value=\"SEC24D\">SEC24D (SEC24 homolog D, COPII coat complex component)</option>\r\n<option value=\"SERPINF1\">SERPINF1 (serpin family F member 1)</option>\r\n<option value=\"SERPINH1\">SERPINH1 (serpin family H member 1)</option>\r\n<option value=\"SP7\">SP7 (Sp7 transcription factor)</option>\r\n<option value=\"SPARC\">SPARC (secreted protein acidic and cysteine rich)</option>\r\n<option value=\"TMEM38B\">TMEM38B (transmembrane protein 38B)</option>\r\n<option value=\"WNT1\">WNT1 (Wnt family member 1)</option>\r\n</select><input type=\"submit\" value=\"Switch OI gene\">\r\n</form>"	"-1"	""	"-1"	"00001"	"2010-06-30 00:00:00"	"00085"	"2022-04-05 13:12:22"	"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}}"
"00020061"	"SP7"	"transcript variant 1"	"001"	"NM_001173467.1"	""	"NP_001166938.1"	""	""	""	"-122"	"2867"	"1296"	"53730004"	"53720359"	""	"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"
"03463"	"OI12"	"osteogenesis imperfecta, type XII (OI12)"	"AR"	"613849"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-05-16 13:20:06"
"05296"	"OI"	"osteogenesis imperfecta"	""	""	""	""	""	"00006"	"2017-06-26 22:59:16"	"00006"	"2025-09-23 21:54:31"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"SP7"	"03463"
"SP7"	"05296"


## 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}}"
"00290757"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295528"	""	""	""	"1"	""	"03566"	""	""	"M"	"yes"	"Pakistan"	"32y"	"0"	""	""	""	"SP7"
"00372762"	""	""	""	"1"	""	"00085"	"{PMID:Fiscaletti 2018:29382611}"	"proband had sensorineural hearing loss"	""	""	""	""	"0"	""	""	""	""
"00372763"	""	""	""	"1"	""	"00085"	"{PMID:Lapunzina 2010:20579626}"	""	""	""	"Egypt"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00290757"	"00198"
"00295528"	"00198"
"00372762"	"05296"
"00372763"	"05296"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03463, 05296
## Count = 3
"{{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}}"
"0000223098"	"00198"	"00295528"	"03566"	"Familial, autosomal recessive"	"32y"	""	""	""	"sp7"	""	""	""	""	""	"osteogenesis imperfecta"	"osteogenesis imperfecta"	""
"0000268038"	"05296"	"00372762"	"00085"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"OI"	""
"0000268039"	"05296"	"00372763"	"00085"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"OI IV"	""


## 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}}"
"0000291925"	"00290757"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296698"	"00295528"	"1"	"03566"	"03566"	"2020-03-17 13:12:18"	""	""	"SEQ-NG"	"DNA"	""	""
"0000373995"	"00372762"	"1"	"00085"	"00085"	"2018-04-11 14:14:15"	"00085"	"2018-04-11 14:14:35"	"SEQ"	"DNA"	""	"CNGP"
"0000373996"	"00372763"	"1"	"00085"	"00085"	"2010-06-30 14:38:40"	"00085"	"2011-02-18 14:18:15"	"PCR;SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000296698"	"SP7"
"0000373995"	"SP7"
"0000373996"	"SP7"


## 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 = 26
"{{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}}"
"0000248310"	"0"	"10"	"12"	"53722098"	"53722098"	"subst"	"0.988695"	"02325"	"SP7_000015"	"g.53722098A>G"	""	""	""	"SP7(NM_001173467.3):c.1128T>C (p.H376=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53328314A>G"	""	"benign"	""
"0000250045"	"0"	"10"	"12"	"53722098"	"53722098"	"subst"	"0.988695"	"02329"	"SP7_000015"	"g.53722098A>G"	""	""	""	"SP7(NM_001173467.3):c.1128T>C (p.H376=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53328314A>G"	""	"benign"	""
"0000298443"	"0"	"10"	"12"	"53722128"	"53722128"	"subst"	"0.963219"	"02325"	"SP7_000016"	"g.53722128G>A"	""	""	""	"SP7(NM_001173467.3):c.1098C>T (p.S366=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53328344G>A"	""	"benign"	""
"0000299675"	"0"	"10"	"12"	"53729491"	"53729491"	"subst"	"0"	"02329"	"SP7_000003"	"g.53729491T>G"	""	""	""	"SP7(NM_001173467.3):c.-47-14A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53335707T>G"	""	"benign"	""
"0000299676"	"0"	"10"	"12"	"53729492"	"53729492"	"subst"	"0"	"02329"	"SP7_000004"	"g.53729492G>T"	""	""	""	"SP7(NM_001173467.3):c.-47-15C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53335708G>T"	""	"benign"	""
"0000299677"	"0"	"10"	"12"	"53722128"	"53722128"	"subst"	"0.963219"	"02329"	"SP7_000016"	"g.53722128G>A"	""	""	""	"SP7(NM_001173467.3):c.1098C>T (p.S366=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.53328344G>A"	""	"benign"	""
"0000548624"	"0"	"50"	"12"	"53722387"	"53722387"	"subst"	"0.000188042"	"01943"	"SP7_000005"	"g.53722387C>A"	""	""	""	"SP7(NM_001173467.1):c.839G>T (p.(Arg280Leu)), SP7(NM_001300837.1):c.785G>T (p.R262L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53328603C>A"	""	"VUS"	""
"0000548625"	"0"	"50"	"12"	"53722427"	"53722427"	"subst"	"0.000184007"	"01943"	"SP7_000006"	"g.53722427G>A"	""	""	""	"SP7(NM_001173467.1):c.799C>T (p.(Arg267Cys)), SP7(NM_001300837.1):c.745C>T (p.R249C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53328643G>A"	""	"VUS"	""
"0000548626"	"0"	"70"	"12"	"53722933"	"53722933"	"subst"	"0"	"02329"	"SP7_000007"	"g.53722933G>T"	""	""	""	"SP7(NM_001173467.3):c.293C>A (p.S98*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53329149G>T"	""	"likely pathogenic"	""
"0000548627"	"0"	"50"	"12"	"53723207"	"53723207"	"subst"	"8.22416E-6"	"01804"	"SP7_000008"	"g.53723207G>A"	""	""	""	"SP7(NM_001173467.1):c.22-3C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53329423G>A"	""	"VUS"	""
"0000548628"	"0"	"30"	"12"	"53729425"	"53729425"	"subst"	"0.000720165"	"02329"	"SP7_000009"	"g.53729425C>T"	""	""	""	"SP7(NM_001173467.3):c.6G>A (p.A2=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53335641C>T"	""	"likely benign"	""
"0000548629"	"0"	"30"	"12"	"53729484"	"53729484"	"subst"	"0"	"01804"	"SP7_000010"	"g.53729484C>G"	""	""	""	"SP7(NM_001173467.1):c.-47-7G>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.53335700C>G"	""	"likely benign"	""
"0000648614"	"1"	"30"	"12"	"53722233"	"53722233"	"subst"	"0.0137374"	"03575"	"SP7_000011"	"g.53722233G>A"	"4/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs116856142}"	"Germline"	""	"rs116856142"	"0"	""	""	"g.53328449G>A"	""	"likely benign"	""
"0000653391"	"0"	"90"	"12"	"53722402"	"53722402"	"subst"	"0"	"03566"	"SP7_000012"	"g.53722402C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.53328618C>T"	""	"pathogenic"	""
"0000691380"	"0"	"30"	"12"	"53723061"	"53723061"	"subst"	"2.43883E-5"	"02329"	"SP7_000013"	"g.53723061T>C"	""	""	""	"SP7(NM_001173467.3):c.165A>G (p.S55=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724138"	"0"	"10"	"12"	"53729499"	"53729499"	"dup"	"0"	"02329"	"SP7_000014"	"g.53729499dup"	""	""	""	"SP7(NM_001173467.3):c.-47-15dupC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000784676"	"3"	"99"	"12"	"53722280"	"53722280"	"subst"	"0"	"00085"	"SP7_000002"	"g.53722280G>A"	""	"{PMID:Fiscaletti 2018:29382611}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000784677"	"3"	"99"	"12"	"53722174"	"53722174"	"del"	"0"	"00085"	"SP7_000001"	"g.53722174del"	""	"{PMID:Lapunzina 2010:20579626}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000805840"	"0"	"30"	"12"	"53722178"	"53722178"	"subst"	"1.62521E-5"	"01804"	"SP7_000017"	"g.53722178G>A"	""	""	""	"SP7(NM_001173467.1):c.1048C>T (p.(Arg350Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890687"	"0"	"30"	"12"	"53722362"	"53722362"	"subst"	"0.000802682"	"02329"	"SP7_000018"	"g.53722362C>T"	""	""	""	"SP7(NM_001173467.3):c.864G>A (p.L288=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890688"	"0"	"30"	"12"	"53722883"	"53722883"	"subst"	"2.43853E-5"	"01804"	"SP7_000019"	"g.53722883C>T"	""	""	""	"SP7(NM_001173467.1):c.343G>A (p.(Gly115Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001000223"	"0"	"30"	"12"	"53722387"	"53722387"	"subst"	"0.000188042"	"01804"	"SP7_000005"	"g.53722387C>A"	""	""	""	"SP7(NM_001173467.1):c.839G>T (p.(Arg280Leu)), SP7(NM_001300837.1):c.785G>T (p.R262L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001000224"	"0"	"30"	"12"	"53722427"	"53722427"	"subst"	"0.000184007"	"01804"	"SP7_000006"	"g.53722427G>A"	""	""	""	"SP7(NM_001173467.1):c.799C>T (p.(Arg267Cys)), SP7(NM_001300837.1):c.745C>T (p.R249C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001026211"	"0"	"30"	"12"	"53722233"	"53722233"	"subst"	"0.0137374"	"02329"	"SP7_000011"	"g.53722233G>A"	""	""	""	"SP7(NM_001173467.3):c.993C>T (p.C331=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039341"	"0"	"50"	"12"	"53722219"	"53722219"	"subst"	"0.000231562"	"01804"	"SP7_000020"	"g.53722219G>C"	""	""	""	"SP7(NM_001173467.3):c.1007C>G (p.(Thr336Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001054355"	"0"	"30"	"12"	"53729490"	"53729490"	"del"	"0"	"01804"	"SP7_000021"	"g.53729490del"	""	""	""	"SP7(NM_001173467.3):c.-47-8del"	"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 SP7
## Count = 26
"{{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}}"
"0000248310"	"00020061"	"10"	"1128"	"0"	"1128"	"0"	"c.1128T>C"	"r.(?)"	"p.(His376=)"	""
"0000250045"	"00020061"	"10"	"1128"	"0"	"1128"	"0"	"c.1128T>C"	"r.(?)"	"p.(His376=)"	""
"0000298443"	"00020061"	"10"	"1098"	"0"	"1098"	"0"	"c.1098C>T"	"r.(?)"	"p.(Ser366=)"	""
"0000299675"	"00020061"	"10"	"-47"	"-14"	"-47"	"-14"	"c.-47-14A>C"	"r.(=)"	"p.(=)"	""
"0000299676"	"00020061"	"10"	"-47"	"-15"	"-47"	"-15"	"c.-47-15C>A"	"r.(=)"	"p.(=)"	""
"0000299677"	"00020061"	"10"	"1098"	"0"	"1098"	"0"	"c.1098C>T"	"r.(?)"	"p.(Ser366=)"	""
"0000548624"	"00020061"	"50"	"839"	"0"	"839"	"0"	"c.839G>T"	"r.(?)"	"p.(Arg280Leu)"	""
"0000548625"	"00020061"	"50"	"799"	"0"	"799"	"0"	"c.799C>T"	"r.(?)"	"p.(Arg267Cys)"	""
"0000548626"	"00020061"	"70"	"293"	"0"	"293"	"0"	"c.293C>A"	"r.(?)"	"p.(Ser98Ter)"	""
"0000548627"	"00020061"	"50"	"22"	"-3"	"22"	"-3"	"c.22-3C>T"	"r.spl?"	"p.?"	""
"0000548628"	"00020061"	"30"	"6"	"0"	"6"	"0"	"c.6G>A"	"r.(?)"	"p.(Ala2=)"	""
"0000548629"	"00020061"	"30"	"-47"	"-7"	"-47"	"-7"	"c.-47-7G>C"	"r.(=)"	"p.(=)"	""
"0000648614"	"00020061"	"30"	"993"	"0"	"993"	"0"	"c.993C>T"	"r.(=)"	"p.(=)"	""
"0000653391"	"00020061"	"90"	"824"	"0"	"824"	"0"	"c.824G>A"	"r.(?)"	"p.(Cys275Tyr)"	""
"0000691380"	"00020061"	"30"	"165"	"0"	"165"	"0"	"c.165A>G"	"r.(?)"	"p.(Ser55=)"	""
"0000724138"	"00020061"	"10"	"-47"	"-15"	"-47"	"-15"	"c.-47-15dup"	"r.(=)"	"p.(=)"	""
"0000784676"	"00020061"	"99"	"946"	"0"	"946"	"0"	"c.946C>T"	"r.(?)"	"p.(Arg316Cys)"	"3"
"0000784677"	"00020061"	"99"	"1052"	"0"	"1052"	"0"	"c.1052del"	"r.(?)"	"p.(Glu351Glyfs*19)"	"3"
"0000805840"	"00020061"	"30"	"1048"	"0"	"1048"	"0"	"c.1048C>T"	"r.(?)"	"p.(Arg350Trp)"	""
"0000890687"	"00020061"	"30"	"864"	"0"	"864"	"0"	"c.864G>A"	"r.(?)"	"p.(Leu288=)"	""
"0000890688"	"00020061"	"30"	"343"	"0"	"343"	"0"	"c.343G>A"	"r.(?)"	"p.(Gly115Arg)"	""
"0001000223"	"00020061"	"30"	"839"	"0"	"839"	"0"	"c.839G>T"	"r.(?)"	"p.(Arg280Leu)"	""
"0001000224"	"00020061"	"30"	"799"	"0"	"799"	"0"	"c.799C>T"	"r.(?)"	"p.(Arg267Cys)"	""
"0001026211"	"00020061"	"30"	"993"	"0"	"993"	"0"	"c.993C>T"	"r.(?)"	"p.(=)"	""
"0001039341"	"00020061"	"50"	"1007"	"0"	"1007"	"0"	"c.1007C>G"	"r.(?)"	"p.(Thr336Ser)"	""
"0001054355"	"00020061"	"30"	"-47"	"-8"	"-47"	"-8"	"c.-47-8del"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000291925"	"0000648614"
"0000296698"	"0000653391"
"0000373995"	"0000784676"
"0000373996"	"0000784677"