### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COG6)
# 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}}"
"COG6"	"component of oligomeric golgi complex 6"	"13"	"q13.2"	"unknown"	"NG_028352.1"	"UD_132119164059"	""	"http://www.LOVD.nl/COG6"	""	"1"	"18621"	"57511"	"606977"	"1"	"1"	"1"	"1"	"The 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."	""	"g"	"http://databases.lovd.nl/shared/refseq/COG6_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2012-09-05 00:00:00"	"00006"	"2014-10-23 06:16:10"	"00006"	"2025-10-24 22:46:28"


## 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}}"
"00005451"	"COG6"	"transcript variant 2"	"001"	"NM_001145079.1"	""	"NP_001138551.1"	""	""	""	"-100"	"5157"	"1848"	"40229764"	"40365802"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"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"
"03681"	"CDG2L"	"glycosylation, congenital disorder of, type IIl (CDG-2L)"	"AR"	"614576"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03896"	"SHNS"	"Shaheen syndrome"	"AR"	"615328"	""	""	""	"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 = 2
"{{geneid}}"	"{{diseaseid}}"
"COG6"	"03681"
"COG6"	"03896"


## 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}}"
"00361686"	""	""	""	"1"	""	"00006"	"{PMID:Anazi 2017:27431290}"	"familial"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"11DG1494"
"00361687"	""	""	""	"1"	""	"00006"	"{PMID:Anazi 2017:27431290}"	"familial"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"11DG0268"
"00467638"	""	""	""	"2"	""	"00006"	"{PMID:Elmas 2019:30426380}"	"2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"Pat22"
"00467639"	""	""	""	"2"	""	"00006"	"{PMID:Elmas 2019:30426380}"	"2-generation family, 2 affected female cousins, unaffected heterozygous carrier parents"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Pat23"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00361686"	"00139"
"00361687"	"00139"
"00467638"	"00198"
"00467639"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03681, 03896
## 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}}"
"0000257091"	"00139"	"00361686"	"00006"	"Familial, autosomal recessive"	"1y2m"	"syndromic; global developmental delay, anhidrosis, hperkeratotic palms and soles, severe dental caries"	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000257092"	"00139"	"00361687"	"00006"	"Familial, autosomal recessive"	"2y4m"	"syndromic; intellectual disability, anhidrosis, hyperkeratotic palms and soles, severe dental caries"	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000352850"	"00198"	"00467638"	"00006"	"Familial, autosomal recessive"	"10y9m"	"see paper; ..., neurological disorders, multiple congenital anomalies; mental motor retardation, seizure, microcephaly, patent ductus arteriosus, cryptorchidism, hypothyroidism; abcent of MRI; operate patent ductus arteriosus"	"3m"	""	""	""	""	""	""	""	"CDG2L"	""	""
"0000352851"	"00198"	"00467639"	"00006"	"Familial, autosomal recessive"	"15y"	"see paper; ..., intra-uterine growth retardation; mental motor retardation, iugr, perinatal asphyxia, microcephaly, seizure, patent ductus arteriosus, bilateral iris coloboma, hypothyroidism, horizontal nystagmus; abcent of MRI; operate patent ductus arteriosus"	"1d"	""	""	""	""	""	""	""	"CDG2L"	""	""


## 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}}"
"0000362914"	"00361686"	"1"	"00006"	"00006"	"2021-04-07 19:07:03"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000362915"	"00361687"	"1"	"00006"	"00006"	"2021-04-07 19:07:03"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000469303"	"00467638"	"1"	"00006"	"00006"	"2025-10-24 22:46:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000469304"	"00467639"	"1"	"00006"	"00006"	"2025-10-24 22:46:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000362914"	"COG6"
"0000362915"	"COG6"


## 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 = 33
"{{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}}"
"0000251551"	"0"	"10"	"13"	"40261945"	"40261945"	"subst"	"0.248397"	"02326"	"COG6_000007"	"g.40261945A>G"	""	""	""	"COG6(NM_020751.3):c.1009+9A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39687808A>G"	""	"benign"	""
"0000252442"	"0"	"70"	"13"	"40256398"	"40256398"	"subst"	"4.07751E-6"	"02326"	"COG6_000006"	"g.40256398A>G"	""	""	""	"COG6(NM_020751.3):c.785A>G (p.Y262C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39682261A>G"	""	"likely pathogenic"	""
"0000266877"	"0"	"10"	"13"	"40230294"	"40230294"	"subst"	"0"	"02325"	"COG6_000004"	"g.40230294T>C"	""	""	""	"COG6(NM_001145079.2):c.153+278T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39656157T>C"	""	"benign"	""
"0000266878"	"0"	"10"	"13"	"40298638"	"40298639"	"del"	"0"	"02325"	"COG6_000009"	"g.40298638_40298639del"	""	""	""	"COG6(NM_001145079.1):c.1693-7_1693-6delTA, COG6(NM_001145079.2):c.1693-7_1693-6delTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39724501_39724502del"	""	"benign"	""
"0000266879"	"0"	"10"	"13"	"40229891"	"40229891"	"subst"	"0.476705"	"02325"	"COG6_000002"	"g.40229891G>A"	""	""	""	"COG6(NM_001145079.2):c.28G>A (p.A10T), COG6(NM_020751.3):c.28G>A (p.A10T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39655754G>A"	""	"benign"	""
"0000266880"	"0"	"10"	"13"	"40229847"	"40229847"	"dup"	"0"	"02325"	"COG6_000001"	"g.40229847dup"	""	""	""	"COG6(NR_026745.1):n.84_85insG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39655710dup"	""	"benign"	""
"0000266881"	"0"	"10"	"13"	"40229957"	"40229957"	"subst"	"0.458452"	"02325"	"COG6_000003"	"g.40229957T>A"	""	""	""	"COG6(NM_001145079.2):c.94T>A (p.C32S), COG6(NM_020751.3):c.94T>A (p.C32S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39655820T>A"	""	"benign"	""
"0000270356"	"0"	"90"	"13"	"40297531"	"40297531"	"subst"	"0"	"02326"	"COG6_000008"	"g.40297531G>T"	""	""	""	"COG6(NM_001145079.1):c.1646G>T (p.G549V), COG6(NM_020751.3):c.1646G>T (p.G549V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39723394G>T"	""	"pathogenic"	""
"0000270357"	"0"	"10"	"13"	"40229891"	"40229891"	"subst"	"0.476705"	"02326"	"COG6_000002"	"g.40229891G>A"	""	""	""	"COG6(NM_001145079.2):c.28G>A (p.A10T), COG6(NM_020751.3):c.28G>A (p.A10T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39655754G>A"	""	"benign"	""
"0000270358"	"0"	"10"	"13"	"40229957"	"40229957"	"subst"	"0.458452"	"02326"	"COG6_000003"	"g.40229957T>A"	""	""	""	"COG6(NM_001145079.2):c.94T>A (p.C32S), COG6(NM_020751.3):c.94T>A (p.C32S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39655820T>A"	""	"benign"	""
"0000273757"	"0"	"10"	"13"	"40298638"	"40298639"	"del"	"0"	"01943"	"COG6_000009"	"g.40298638_40298639del"	""	""	""	"COG6(NM_001145079.1):c.1693-7_1693-6delTA, COG6(NM_001145079.2):c.1693-7_1693-6delTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.39724501_39724502del"	""	"benign"	""
"0000550823"	"0"	"50"	"13"	"40253751"	"40253751"	"subst"	"4.06468E-5"	"01943"	"COG6_000011"	"g.40253751C>T"	""	""	""	"COG6(NM_001145079.1):c.617C>T (p.T206M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.39679614C>T"	""	"VUS"	""
"0000550824"	"0"	"90"	"13"	"40254168"	"40254168"	"dup"	"0"	"02329"	"COG6_000012"	"g.40254168dup"	""	""	""	"COG6(NM_001145079.2):c.680dupA (p.Y227*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.39680031dup"	""	"pathogenic"	""
"0000550825"	"0"	"70"	"13"	"40268762"	"40268762"	"subst"	"0"	"02327"	"COG6_000013"	"g.40268762T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.39694625T>G"	""	"likely pathogenic"	""
"0000550826"	"0"	"90"	"13"	"40297531"	"40297531"	"subst"	"0"	"01943"	"COG6_000008"	"g.40297531G>T"	""	""	""	"COG6(NM_001145079.1):c.1646G>T (p.G549V), COG6(NM_020751.3):c.1646G>T (p.G549V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.39723394G>T"	""	"pathogenic"	""
"0000679818"	"0"	"30"	"13"	"40293396"	"40293396"	"subst"	"0.000386871"	"01943"	"COG6_000014"	"g.40293396T>G"	""	""	""	"COG6(NM_001145079.1):c.1308T>G (p.L436=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679819"	"0"	"50"	"13"	"40293942"	"40293942"	"subst"	"4.08173E-5"	"01943"	"COG6_000015"	"g.40293942G>A"	""	""	""	"COG6(NM_001145079.1):c.1562G>A (p.R521H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000679820"	"0"	"30"	"13"	"40362484"	"40362484"	"subst"	"0.000570664"	"01943"	"COG6_000016"	"g.40362484C>T"	""	""	""	"COG6(NM_001145079.1):c.1839C>T (p.N613=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724542"	"0"	"50"	"13"	"40234951"	"40234951"	"subst"	"0"	"01943"	"COG6_000017"	"g.40234951T>A"	""	""	""	"COG6(NM_001145079.1):c.302T>A (p.L101H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724543"	"0"	"90"	"13"	"40261895"	"40261895"	"del"	"0"	"01943"	"COG6_000018"	"g.40261895del"	""	""	""	"COG6(NM_001145079.1):c.968delA (p.K323Rfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000724544"	"0"	"50"	"13"	"40293382"	"40293382"	"subst"	"1.22189E-5"	"02325"	"COG6_000019"	"g.40293382C>T"	""	""	""	"COG6(NM_020751.3):c.1294C>T (p.P432S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724545"	"0"	"30"	"13"	"40362472"	"40362472"	"subst"	"6.55944E-5"	"01943"	"COG6_000020"	"g.40362472G>A"	""	""	""	"COG6(NM_001145079.1):c.1827G>A (p.K609=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000763288"	"3"	"90"	"13"	"40273614"	"40273614"	"subst"	"0"	"00006"	"COG6_000021"	"g.40273614A>G"	""	"{PMID:Anazi 2017:27431290}"	""	"NM_020751.2:c.1167-24A>G"	"ACMG PVS1, PS4"	"Germline"	""	""	"0"	""	""	"g.39699477A>G"	""	"pathogenic"	"ACMG"
"0000763289"	"3"	"90"	"13"	"40273614"	"40273614"	"subst"	"0"	"00006"	"COG6_000021"	"g.40273614A>G"	""	"{PMID:Anazi 2017:27431290}"	""	"NM_020751.2:c.1167-24A>G"	"ACMG PVS1, PS4"	"Germline"	""	""	"0"	""	""	"g.39699477A>G"	""	"pathogenic"	"ACMG"
"0000806179"	"0"	"30"	"13"	"40229932"	"40229932"	"subst"	"0"	"01943"	"COG6_000022"	"g.40229932G>T"	""	""	""	"COG6(NM_001145079.1):c.69G>T (p.G23=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806180"	"0"	"50"	"13"	"40233502"	"40233502"	"subst"	"8.53881E-5"	"01943"	"COG6_000023"	"g.40233502A>G"	""	""	""	"COG6(NM_001145079.1):c.155A>G (p.E52G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806181"	"0"	"30"	"13"	"40325092"	"40325092"	"subst"	"4.07864E-6"	"01943"	"COG6_000024"	"g.40325092C>T"	""	""	""	"COG6(NM_020751.3):c.1836C>T (p.I612=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863387"	"0"	"50"	"13"	"40229975"	"40229975"	"subst"	"0"	"01943"	"COG6_000025"	"g.40229975A>T"	""	""	""	"COG6(NM_001145079.1):c.112A>T (p.K38*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000597"	"0"	"50"	"13"	"40325148"	"40325148"	"dup"	"0"	"02325"	"COG6_000026"	"g.40325148dup"	""	""	""	"COG6(NM_020751.3):c.1892dupT (p.M632Dfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001015088"	"0"	"50"	"13"	"40235011"	"40235011"	"subst"	"4.8966E-5"	"02327"	"COG6_000027"	"g.40235011G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001015089"	"0"	"50"	"13"	"40301618"	"40301618"	"subst"	"0.000621628"	"02327"	"COG6_000028"	"g.40301618C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001049567"	"3"	"90"	"13"	"40256310"	"40256310"	"subst"	"4.06616E-5"	"00006"	"COG6_000029"	"g.40256310G>A"	""	"{PMID:Elmas 2019:30426380}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.39682173G>A"	""	"pathogenic (recessive)"	""
"0001049568"	"3"	"90"	"13"	"40256310"	"40256310"	"subst"	"4.06616E-5"	"00006"	"COG6_000029"	"g.40256310G>A"	""	"{PMID:Elmas 2019:30426380}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.39682173G>A"	""	"pathogenic (recessive)"	""


## 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 COG6
## Count = 33
"{{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}}"
"0000251551"	"00005451"	"10"	"1009"	"9"	"1009"	"9"	"c.1009+9A>G"	"r.(=)"	"p.(=)"	""
"0000252442"	"00005451"	"70"	"785"	"0"	"785"	"0"	"c.785A>G"	"r.(?)"	"p.(Tyr262Cys)"	""
"0000266877"	"00005451"	"10"	"153"	"278"	"153"	"278"	"c.153+278T>C"	"r.(=)"	"p.(=)"	""
"0000266878"	"00005451"	"10"	"1693"	"-7"	"1693"	"-6"	"c.1693-7_1693-6del"	"r.(=)"	"p.(=)"	""
"0000266879"	"00005451"	"10"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	""
"0000266880"	"00005451"	"10"	"-17"	"0"	"-17"	"0"	"c.-17dup"	"r.(?)"	"p.(=)"	""
"0000266881"	"00005451"	"10"	"94"	"0"	"94"	"0"	"c.94T>A"	"r.(?)"	"p.(Cys32Ser)"	""
"0000270356"	"00005451"	"90"	"1646"	"0"	"1646"	"0"	"c.1646G>T"	"r.(?)"	"p.(Gly549Val)"	""
"0000270357"	"00005451"	"10"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	""
"0000270358"	"00005451"	"10"	"94"	"0"	"94"	"0"	"c.94T>A"	"r.(?)"	"p.(Cys32Ser)"	""
"0000273757"	"00005451"	"10"	"1693"	"-7"	"1693"	"-6"	"c.1693-7_1693-6del"	"r.(=)"	"p.(=)"	""
"0000550823"	"00005451"	"50"	"617"	"0"	"617"	"0"	"c.617C>T"	"r.(?)"	"p.(Thr206Met)"	""
"0000550824"	"00005451"	"90"	"680"	"0"	"680"	"0"	"c.680dup"	"r.(?)"	"p.(Tyr227Ter)"	""
"0000550825"	"00005451"	"70"	"1075"	"-9"	"1075"	"-9"	"c.1075-9T>G"	"r.(=)"	"p.(=)"	""
"0000550826"	"00005451"	"90"	"1646"	"0"	"1646"	"0"	"c.1646G>T"	"r.(?)"	"p.(Gly549Val)"	""
"0000679818"	"00005451"	"30"	"1308"	"0"	"1308"	"0"	"c.1308T>G"	"r.(?)"	"p.(Leu436=)"	""
"0000679819"	"00005451"	"50"	"1562"	"0"	"1562"	"0"	"c.1562G>A"	"r.(?)"	"p.(Arg521His)"	""
"0000679820"	"00005451"	"30"	"1839"	"0"	"1839"	"0"	"c.1839C>T"	"r.(?)"	"p.(Asn613=)"	""
"0000724542"	"00005451"	"50"	"302"	"0"	"302"	"0"	"c.302T>A"	"r.(?)"	"p.(Leu101His)"	""
"0000724543"	"00005451"	"90"	"968"	"0"	"968"	"0"	"c.968del"	"r.(?)"	"p.(Lys323Argfs*8)"	""
"0000724544"	"00005451"	"50"	"1294"	"0"	"1294"	"0"	"c.1294C>T"	"r.(?)"	"p.(Pro432Ser)"	""
"0000724545"	"00005451"	"30"	"1827"	"0"	"1827"	"0"	"c.1827G>A"	"r.(?)"	"p.(Lys609=)"	""
"0000763288"	"00005451"	"90"	"1167"	"-24"	"1167"	"-24"	"c.1167-24A>G"	"r.(=)"	"p.(=)"	""
"0000763289"	"00005451"	"90"	"1167"	"-24"	"1167"	"-24"	"c.1167-24A>G"	"r.(=)"	"p.(=)"	""
"0000806179"	"00005451"	"30"	"69"	"0"	"69"	"0"	"c.69G>T"	"r.(?)"	"p.(Gly23=)"	""
"0000806180"	"00005451"	"50"	"155"	"0"	"155"	"0"	"c.155A>G"	"r.(?)"	"p.(Glu52Gly)"	""
"0000806181"	"00005451"	"30"	"1826"	"23407"	"1826"	"23407"	"c.1826+23407C>T"	"r.(=)"	"p.(=)"	""
"0000863387"	"00005451"	"50"	"112"	"0"	"112"	"0"	"c.112A>T"	"r.(?)"	"p.(Lys38*)"	""
"0001000597"	"00005451"	"50"	"1826"	"23463"	"1826"	"23463"	"c.1826+23463dup"	"r.(=)"	"p.(=)"	""
"0001015088"	"00005451"	"50"	"362"	"0"	"362"	"0"	"c.362G>A"	"r.(?)"	"p.(Arg121His)"	""
"0001015089"	"00005451"	"50"	"1759"	"0"	"1759"	"0"	"c.1759C>T"	"r.(?)"	"p.(Arg587Cys)"	""
"0001049567"	"00005451"	"90"	"697"	"0"	"697"	"0"	"c.697G>A"	"r.(?)"	"p.(Glu233Lys)"	"8"
"0001049568"	"00005451"	"90"	"697"	"0"	"697"	"0"	"c.697G>A"	"r.(?)"	"p.(Glu233Lys)"	"8"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000362914"	"0000763288"
"0000362915"	"0000763289"
"0000469303"	"0001049567"
"0000469304"	"0001049568"