### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TTC28)
# 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}}"
"TTC28"	"tetratricopeptide repeat domain 28"	"22"	"q12.1"	"unknown"	"NC_000022.10"	"UD_136095006899"	""	"https://www.LOVD.nl/TTC28"	""	"1"	"29179"	"23331"	"615098"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/TTC28_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2018-10-09 20:43:51"	"00000"	"2021-09-17 14:40:49"


## 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}}"
"00022035"	"TTC28"	"tetratricopeptide repeat domain 28"	"001"	"NM_001145418.1"	""	"NP_001138890.1"	""	""	""	"-142"	"11653"	"7446"	"29075853"	"28374002"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{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"


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


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00181149"	""	""	""	"1"	""	"02575"	""	""	"F"	"?"	""	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00181149"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198
## 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}}"
"0000143371"	"00198"	"00181149"	"02575"	"Familial, autosomal recessive"	""	"Duodenal atresia (HP:0002247), Jejunal atresia (HP:0005235), Ileal atresia (HP:0011102)"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000182107"	"00181149"	"1"	"02575"	"02575"	"2018-10-01 21:14:31"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000182107"	"TTC28"


## 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 = 13
"{{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}}"
"0000318026"	"0"	"30"	"22"	"28501742"	"28501742"	"subst"	"1.32315E-5"	"01943"	"TTC28_000001"	"g.28501742G>A"	""	""	""	"TTC28(NM_001145418.1):c.2832C>T (p.L944=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28105754G>A"	""	"likely benign"	""
"0000328960"	"0"	"50"	"22"	"28501762"	"28501762"	"subst"	"1.32624E-5"	"01804"	"TTC28_000002"	"g.28501762C>T"	""	""	""	"TTC28(NM_001145418.1):c.2812G>A (p.(Val938Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28105774C>T"	""	"VUS"	""
"0000328961"	"0"	"50"	"22"	"28503054"	"28503054"	"subst"	"0.000521214"	"01804"	"TTC28_000003"	"g.28503054G>A"	""	""	""	"TTC28(NM_001145418.1):c.2779C>T (p.(His927Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28107066G>A"	""	"VUS"	""
"0000405933"	"21"	"50"	"22"	"28492306"	"28492306"	"subst"	"6.55033E-6"	"02575"	"TTC28_000004"	"g.28492306T>C"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.28096318T>C"	""	"VUS"	""
"0000405934"	"11"	"50"	"22"	"28693576"	"28693576"	"subst"	"2.66287E-5"	"02575"	"TTC28_000005"	"g.28693576T>G"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.28297588T>G"	""	"VUS"	""
"0000571646"	"0"	"30"	"22"	"28378326"	"28378326"	"subst"	"0"	"01943"	"TTC28_000006"	"g.28378326T>A"	""	""	""	"TTC28(NM_001145418.1):c.7329A>T (p.S2443=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27982338T>A"	""	"likely benign"	""
"0000571647"	"0"	"50"	"22"	"28385938"	"28385938"	"subst"	"0"	"01943"	"TTC28_000007"	"g.28385938C>T"	""	""	""	"TTC28(NM_001145418.1):c.5635G>A (p.A1879T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27989950C>T"	""	"VUS"	""
"0000571649"	"0"	"50"	"22"	"28497190"	"28497190"	"subst"	"0"	"01943"	"TTC28_000009"	"g.28497190G>A"	""	""	""	"TTC28(NM_001145418.1):c.3386C>T (p.A1129V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28101202G>A"	""	"VUS"	""
"0000571652"	"0"	"30"	"22"	"28503355"	"28503355"	"subst"	"0.000171014"	"01943"	"TTC28_000012"	"g.28503355C>T"	""	""	""	"TTC28(NM_001145418.1):c.2478G>A (p.K826=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28107367C>T"	""	"likely benign"	""
"0000571653"	"0"	"50"	"22"	"28504260"	"28504260"	"subst"	"0"	"01804"	"TTC28_000013"	"g.28504260T>A"	""	""	""	"TTC28(NM_001145418.1):c.1573A>T (p.(Asn525Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28108272T>A"	""	"VUS"	""
"0000618510"	"0"	"50"	"22"	"28388578"	"28388578"	"del"	"0"	"01943"	"TTC28_000016"	"g.28388578del"	""	""	""	"TTC28(NM_001145418.1):c.5551delC (p.R1851Gfs*52)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27992590del"	""	"VUS"	""
"0000728071"	"0"	"50"	"22"	"28394582"	"28394582"	"subst"	"0"	"01943"	"TTC28_000017"	"g.28394582C>A"	""	""	""	"TTC28(NM_001145418.1):c.5065G>T (p.A1689S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000809528"	"0"	"30"	"22"	"29075634"	"29075634"	"subst"	"0"	"01943"	"TTC28_000018"	"g.29075634T>G"	""	""	""	"TTC28(NM_001145418.1):c.78A>C (p.P26=)"	"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 TTC28
## Count = 13
"{{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}}"
"0000318026"	"00022035"	"30"	"2832"	"0"	"2832"	"0"	"c.2832C>T"	"r.(?)"	"p.(Leu944=)"	""
"0000328960"	"00022035"	"50"	"2812"	"0"	"2812"	"0"	"c.2812G>A"	"r.(?)"	"p.(Val938Met)"	""
"0000328961"	"00022035"	"50"	"2779"	"0"	"2779"	"0"	"c.2779C>T"	"r.(?)"	"p.(His927Tyr)"	""
"0000405933"	"00022035"	"50"	"3638"	"0"	"3638"	"0"	"c.3638A>G"	"r.(?)"	"p.(Asp1213Gly)"	""
"0000405934"	"00022035"	"50"	"794"	"0"	"794"	"0"	"c.794A>C"	"r.(?)"	"p.(Lys265Thr)"	""
"0000571646"	"00022035"	"30"	"7329"	"0"	"7329"	"0"	"c.7329A>T"	"r.(?)"	"p.(Ser2443=)"	""
"0000571647"	"00022035"	"50"	"5635"	"0"	"5635"	"0"	"c.5635G>A"	"r.(?)"	"p.(Ala1879Thr)"	""
"0000571649"	"00022035"	"50"	"3386"	"0"	"3386"	"0"	"c.3386C>T"	"r.(?)"	"p.(Ala1129Val)"	""
"0000571652"	"00022035"	"30"	"2478"	"0"	"2478"	"0"	"c.2478G>A"	"r.(?)"	"p.(Lys826=)"	""
"0000571653"	"00022035"	"50"	"1573"	"0"	"1573"	"0"	"c.1573A>T"	"r.(?)"	"p.(Asn525Tyr)"	""
"0000618510"	"00022035"	"50"	"5551"	"0"	"5551"	"0"	"c.5551del"	"r.(?)"	"p.(Arg1851GlyfsTer52)"	""
"0000728071"	"00022035"	"50"	"5065"	"0"	"5065"	"0"	"c.5065G>T"	"r.(?)"	"p.(Ala1689Ser)"	""
"0000809528"	"00022035"	"30"	"78"	"0"	"78"	"0"	"c.78A>C"	"r.(?)"	"p.(Pro26=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000182107"	"0000405933"
"0000182107"	"0000405934"