### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TTC19)
# 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}}"
"TTC19"	"tetratricopeptide repeat domain 19"	"17"	"p11.2"	"unknown"	"NG_029806.1"	"UD_132118972274"	""	"https://www.LOVD.nl/TTC19"	""	"1"	"26006"	"54902"	"613814"	"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."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2011-06-30 00:00:00"	"00006"	"2017-07-06 08:16:26"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00022025"	"TTC19"	"transcript variant 1"	"002"	"NM_017775.3"	""	"NP_060245.2"	""	""	""	"-106"	"3393"	"1506"	"15902694"	"15932723"	""	"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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"03842"	"MC3DN2"	"mitochondrial complex III deficiency, nuclear type 2 (MC3DN-2)"	"AR"	"615157"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05452"	"MC3DN"	"mitochondrial complex III deficiency, nuclear (MC3DN)]"	""	""	""	""	""	"00006"	"2018-07-09 13:34:27"	""	""
"05534"	"mitochondrial"	"mitochondrial disorder"	""	""	""	"maternal mitochondrial"	""	"00006"	"2018-12-22 14:29:23"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"TTC19"	"03842"
"TTC19"	"05452"


## Individuals ## Do not remove or alter this header ##
## Count = 13
"{{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}}"
"00037289"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037290"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037291"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037292"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00117528"	""	""	""	"1"	""	"00006"	"{PMID:Ghezzi 2011:21278747}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Italy"	""	"0"	""	""	""	"21278747-Fam1Pat4"
"00117529"	""	""	""	"2"	""	"00006"	"{PMID:Ghezzi 2011:21278747}"	"2-generation family, 2 affected sibs, unaffected heterozygous carrier parents"	"F"	"no"	"Italy"	""	"0"	""	""	""	"21278747-Fam1Pat1"
"00117530"	""	""	"00117529"	"1"	""	"00006"	"{PMID:Ghezzi 2011:21278747}"	"brother Pat1"	"M"	"no"	"Italy"	""	"0"	""	""	""	"21278747-Fam1Pat2"
"00117531"	""	""	""	"1"	""	"00006"	"{PMID:Ghezzi 2011:21278747}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Italy"	""	"0"	""	""	""	"21278747-Fam1Pat3"
"00291638"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291639"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291640"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00374258"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4641"
"00454699"	""	""	""	"1"	""	"00095"	"{PMID:Ardissone 2016:25638461}, {PMID:Legati 2016:26968897}"	""	"M"	""	""	""	"0"	""	""	""	"NGSP92"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 12
"{{individualid}}"	"{{diseaseid}}"
"00037289"	"00198"
"00037290"	"00198"
"00037292"	"00198"
"00117528"	"03842"
"00117529"	"03842"
"00117530"	"03842"
"00117531"	"03842"
"00291638"	"00198"
"00291639"	"00198"
"00291640"	"00198"
"00374258"	"00198"
"00454699"	"05534"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03842, 05452, 05534
## Count = 9
"{{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}}"
"0000092998"	"03842"	"00117528"	"00006"	"Familial, autosomal recessive"	""	"see paper; mitochondrial complex III deficiency, …"	""	""	""	""	""	""	""	""	""	""	""
"0000092999"	"03842"	"00117529"	"00006"	"Familial, autosomal recessive"	""	"see paper; mitochondrial complex III deficiency, …"	""	""	""	""	""	""	""	""	""	""	""
"0000093000"	"03842"	"00117530"	"00006"	"Familial, autosomal recessive"	""	"see paper; mitochondrial complex III deficiency, …"	""	""	""	""	""	""	""	""	""	""	""
"0000093001"	"03842"	"00117531"	"00006"	"Familial, autosomal recessive"	""	"see paper; mitochondrial complex III deficiency, …"	""	""	""	""	""	""	""	""	""	""	""
"0000156870"	"00198"	"00037289"	"01164"	"Unknown"	""	"clinical developmental delay, hypotonia"	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000156871"	"00198"	"00037290"	"01164"	"Unknown"	""	"clinical developmental delay, hypotonia"	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000156872"	"00198"	"00037292"	"01164"	"Unknown"	""	"clinical developmental delay, hypotonia"	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000269468"	"00198"	"00374258"	"00006"	"Familial, autosomal dominant"	""	"Developmental delay"	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000343327"	"05534"	"00454699"	"00095"	"Familial, autosomal recessive"	""	"psycomotor regression, dystonia, leukoencephalopathy"	"4y"	""	""	""	""	""	""	""	""	"complex III deficiency"	""


## Screenings ## Do not remove or alter this header ##
## Count = 13
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000037359"	"00037289"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037360"	"00037290"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037361"	"00037291"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037362"	"00037292"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000117991"	"00117528"	"1"	"00006"	"00002"	"2011-07-14 13:26:51"	""	""	"SEQ; PCR"	"DNA"	""	""
"0000117992"	"00117529"	"1"	"00006"	"00002"	"2011-07-14 13:26:51"	""	""	"SEQ; PCR"	"DNA"	""	""
"0000117993"	"00117530"	"1"	"00006"	"00002"	"2011-07-14 13:26:51"	""	""	"SEQ; PCR"	"DNA"	""	""
"0000117994"	"00117531"	"1"	"00006"	"00002"	"2011-07-14 13:26:51"	""	""	"SEQ; PCR"	"DNA"	""	""
"0000292806"	"00291638"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292807"	"00291639"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292808"	"00291640"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000375452"	"00374258"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000456312"	"00454699"	"1"	"00095"	"00006"	"2024-09-25 11:50:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 9
"{{screeningid}}"	"{{geneid}}"
"0000037359"	"TTC19"
"0000037360"	"TTC19"
"0000037361"	"TTC19"
"0000037362"	"TTC19"
"0000117991"	"TTC19"
"0000117992"	"TTC19"
"0000117993"	"TTC19"
"0000117994"	"TTC19"
"0000375452"	"CLCN1"


## 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 = 40
"{{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}}"
"0000064484"	"1"	"10"	"17"	"15909843"	"15909843"	"subst"	"0"	"01164"	"TTC19_000005"	"g.15909843A>G"	""	""	""	""	"Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	"rs3760298"	"0"	""	""	"g.16006529A>G"	""	"benign"	""
"0000064485"	"1"	"50"	"17"	"15931121"	"15931121"	"subst"	"0"	"01164"	"TTC19_000004"	"g.15931121G>A"	""	""	""	""	"Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message."	"Germline"	""	"rs35168566"	"0"	""	""	"g.16027807G>A"	""	"VUS"	""
"0000064486"	"1"	"50"	"17"	"15928436"	"15928436"	"subst"	"0"	"01164"	"TTC19_000003"	"g.15928436T>G"	""	""	""	""	"Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.16025122T>G"	""	"VUS"	""
"0000064487"	"1"	"10"	"17"	"15909924"	"15909924"	"subst"	"0"	"01164"	"TTC19_000006"	"g.15909924C>A"	""	""	""	""	"Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message."	"Germline"	""	"rs758853"	"0"	""	""	"g.16006610C>A"	""	"benign"	""
"0000193957"	"3"	"75"	"17"	"15929902"	"15929902"	"subst"	"5.68856E-5"	"00006"	"TTC19_000001"	"g.15929902C>T"	""	"{PMID:Ghezzi 2011:21278747}"	""	"517C>T;Q173X"	""	"Germline"	""	""	"0"	""	""	"g.16026588C>T"	""	"likely pathogenic"	""
"0000193958"	"3"	"75"	"17"	"15930712"	"15930712"	"subst"	"0"	"00006"	"TTC19_000002"	"g.15930712T>G"	""	"{PMID:Ghezzi 2011:21278747}"	""	"656T>G; L219X"	""	"Germline"	""	""	"0"	""	""	"g.16027398T>G"	""	"likely pathogenic"	""
"0000193959"	"3"	"75"	"17"	"15930712"	"15930712"	"subst"	"0"	"00006"	"TTC19_000002"	"g.15930712T>G"	""	"{PMID:Ghezzi 2011:21278747}"	""	"656T>G; L219X"	""	"Germline"	""	""	"0"	""	""	"g.16027398T>G"	""	"likely pathogenic"	""
"0000193960"	"3"	"75"	"17"	"15930712"	"15930712"	"subst"	"0"	"00006"	"TTC19_000002"	"g.15930712T>G"	""	"{PMID:Ghezzi 2011:21278747}"	""	"656T>G; L219X"	""	"Germline"	""	""	"0"	""	""	"g.16027398T>G"	""	"likely pathogenic"	""
"0000254145"	"0"	"30"	"17"	"15930734"	"15930734"	"subst"	"0.00223595"	"01943"	"TTC19_000010"	"g.15930734A>G"	""	""	""	"TTC19(NM_001271420.1):c.720A>G (p.Q240=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.16027420A>G"	""	"likely benign"	""
"0000254758"	"0"	"30"	"17"	"15928346"	"15928346"	"subst"	"4.06888E-6"	"01943"	"TTC19_000009"	"g.15928346A>G"	""	""	""	"TTC19(NM_001271420.1):c.371A>G (p.N124S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.16025032A>G"	""	"likely benign"	""
"0000312107"	"0"	"30"	"17"	"15905225"	"15905225"	"subst"	"0.000207667"	"02325"	"TTC19_000008"	"g.15905225T>C"	""	""	""	"TTC19(NM_001271420.1):c.-9-4T>C, TTC19(NM_001271420.2):c.-9-4T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.16001911T>C"	""	"likely benign"	""
"0000318010"	"0"	"30"	"17"	"15905225"	"15905225"	"subst"	"0.000207667"	"01943"	"TTC19_000008"	"g.15905225T>C"	""	""	""	"TTC19(NM_001271420.1):c.-9-4T>C, TTC19(NM_001271420.2):c.-9-4T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.16001911T>C"	""	"likely benign"	""
"0000318011"	"0"	"30"	"17"	"15903530"	"15903530"	"subst"	"3.17518E-5"	"01943"	"TTC19_000007"	"g.15903530G>C"	""	""	""	"TTC19(NM_017775.3):c.283G>C (p.E95Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.16000216G>C"	""	"likely benign"	""
"0000318012"	"0"	"50"	"17"	"15930765"	"15930765"	"subst"	"0"	"01943"	"TTC19_000011"	"g.15930765C>T"	""	""	""	"TTC19(NM_001271420.1):c.751C>T (p.Q251*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.16027451C>T"	""	"VUS"	""
"0000325217"	"0"	"50"	"17"	"15878486"	"15878486"	"subst"	"4.0664E-6"	"01804"	"ADORA2B_000002"	"g.15878486C>T"	""	""	""	"ADORA2B(NM_000676.2):c.829C>T (p.(Leu277Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15975172C>T"	""	"VUS"	""
"0000347001"	"0"	"90"	"17"	"15909862"	"15909862"	"subst"	"5.68717E-5"	"02327"	"TTC19_000012"	"g.15909862T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.16006548T>G"	""	"pathogenic"	""
"0000560358"	"0"	"30"	"17"	"15903274"	"15903274"	"subst"	"0"	"01943"	"TTC19_000014"	"g.15903274C>A"	""	""	""	"TTC19(NM_017775.3):c.112C>A (p.P38T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15999960C>A"	""	"likely benign"	""
"0000560360"	"0"	"90"	"17"	"15907147"	"15907147"	"del"	"0"	"02327"	"TTC19_000016"	"g.15907147del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.16003833del"	""	"pathogenic"	""
"0000560361"	"0"	"30"	"17"	"15929920"	"15929920"	"subst"	"0.000422568"	"01943"	"NCOR1_000004"	"g.15929920A>C"	""	""	""	"TTC19(NM_001271420.1):c.577A>C (p.I193L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.16026606A>C"	""	"likely benign"	""
"0000560362"	"0"	"30"	"17"	"15929928"	"15929928"	"subst"	"0.000158479"	"01804"	"NCOR1_000005"	"g.15929928G>A"	""	""	""	"TTC19(NM_001271420.1):c.585G>A (p.(Met195Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.16026614G>A"	""	"likely benign"	""
"0000560363"	"0"	"90"	"17"	"15930699"	"15930699"	"subst"	"0.000223615"	"01943"	"NCOR1_000006"	"g.15930699C>T"	""	""	""	"TTC19(NM_001271420.1):c.685C>T (p.Q229*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.16027385C>T"	""	"pathogenic"	""
"0000616357"	"0"	"30"	"17"	"15903249"	"15903249"	"subst"	"0"	"01943"	"TTC19_000017"	"g.15903249C>T"	""	""	""	"TTC19(NM_017775.3):c.87C>T (p.L29=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15999935C>T"	""	"likely benign"	""
"0000616358"	"0"	"30"	"17"	"15929999"	"15929999"	"subst"	"0"	"01804"	"NCOR1_000011"	"g.15929999C>T"	""	""	""	"TTC19(NM_001271420.1):c.656C>T (p.(Ala219Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.16026685C>T"	""	"likely benign"	""
"0000649495"	"1"	"90"	"17"	"15903121"	"15903121"	"subst"	"0"	"03575"	"TTC19_000018"	"g.15903121G>T"	"1/2785 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs769078093.1}"	"Germline"	""	"rs769078093"	"0"	""	""	"g.15999807G>T"	""	"pathogenic"	""
"0000649496"	"1"	"70"	"17"	"15903169"	"15903169"	"subst"	"0.000193388"	"03575"	"TTC19_000019"	"g.15903169C>T"	"4/2772 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs756830714}"	"Germline"	""	"rs756830714"	"0"	""	""	"g.15999855C>T"	""	"likely pathogenic"	""
"0000649497"	"1"	"50"	"17"	"15931171"	"15931171"	"subst"	"0.00672429"	"03575"	"TTC19_000020"	"g.15931171C>T"	"6/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"6 heterozygous, no homozygous; {DB:CLININrs117087989}"	"Germline"	""	"rs117087989"	"0"	""	""	"g.16027857C>T"	""	"VUS"	""
"0000680787"	"0"	"90"	"17"	"15930801"	"15930805"	"del"	"0"	"01943"	"NCOR1_000014"	"g.15930801_15930805del"	""	""	""	"TTC19(NM_001271420.1):c.787_791delAAAAG (p.K263*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000692263"	"0"	"30"	"17"	"15905285"	"15905285"	"subst"	"8.13941E-6"	"01943"	"TTC19_000021"	"g.15905285T>A"	""	""	""	"TTC19(NM_001271420.1):c.48T>A (p.L16=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726186"	"0"	"50"	"17"	"15930690"	"15930690"	"subst"	"3.65967E-5"	"01943"	"NCOR1_000016"	"g.15930690C>T"	""	""	""	"TTC19(NM_001271420.1):c.676C>T (p.R226*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000787457"	"3"	"50"	"17"	"15930801"	"15930805"	"del"	"0"	"00000"	"NCOR1_000014"	"g.15930801_15930805del"	""	"0"	""	"c.1104_1108delAAAGA"	""	"Germline"	""	"rs539447756"	"0"	""	""	"g.16027487_16027491del"	""	"VUS"	""
"0000807818"	"0"	"70"	"17"	"15928330"	"15928334"	"del"	"0"	"01943"	"TTC19_000022"	"g.15928330_15928334del"	""	""	""	"TTC19(NM_001271420.1):c.356-2_358delAGTGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000865078"	"0"	"50"	"17"	"15903163"	"15903163"	"subst"	"0"	"01804"	"TTC19_000023"	"g.15903163A>G"	""	""	""	"TTC19(NM_001271420.1):c.-458A>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865079"	"0"	"50"	"17"	"15929927"	"15929927"	"subst"	"0"	"01804"	"NCOR1_000019"	"g.15929927T>C"	""	""	""	"TTC19(NM_001271420.1):c.584T>C (p.(Met195Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893360"	"0"	"50"	"17"	"15903308"	"15903308"	"subst"	"0"	"01804"	"TTC19_000024"	"g.15903308C>T"	""	""	""	"TTC19(NM_001271420.1):c.-313C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982318"	"0"	"50"	"17"	"15909824"	"15909824"	"subst"	"1.2183E-5"	"01804"	"TTC19_000025"	"g.15909824T>G"	""	""	""	"TTC19(NM_017775.4):c.618T>G (p.(Ile206Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002940"	"0"	"30"	"17"	"15902969"	"15902969"	"subst"	"0"	"01804"	"TTC19_000026"	"g.15902969C>A"	""	""	""	"TTC19(NM_017775.3):c.-194C>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001002941"	"0"	"50"	"17"	"15928474"	"15928474"	"subst"	"0.00166121"	"01804"	"NCOR1_000028"	"g.15928474A>G"	""	""	""	"TTC19(NM_017775.3):c.820A>G (p.(Arg274Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001008558"	"3"	"90"	"17"	"0"	"0"	""	""	"00095"	"MYH2_000008"	"g.?"	""	"{PMID:Ardissone 2016:25638461}, {PMID:Legati 2016:26968897}"	""	"Q261Gfs*8"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001041629"	"0"	"50"	"17"	"15928441"	"15928441"	"subst"	"0.000256427"	"01804"	"NCOR1_000051"	"g.15928441G>T"	""	""	""	"TTC19(NM_017775.4):c.787G>T (p.(Ala263Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041630"	"0"	"50"	"17"	"15930809"	"15930809"	"subst"	"2.43956E-5"	"01804"	"NCOR1_000052"	"g.15930809A>G"	""	""	""	"TTC19(NM_017775.4):c.1116A>G (p.(Arg372=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## 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 TTC19
## Count = 40
"{{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}}"
"0000064484"	"00022025"	"10"	"676"	"-39"	"676"	"-39"	"c.676-39A>G"	"r.(=)"	"p.(=)"	""
"0000064485"	"00022025"	"50"	"1357"	"71"	"1357"	"71"	"c.1357+71G>A"	"r.(=)"	"p.(=)"	""
"0000064486"	"00022025"	"50"	"787"	"-5"	"787"	"-5"	"c.787-5T>G"	"r.spl?"	"p.?"	""
"0000064487"	"00022025"	"10"	"675"	"43"	"675"	"43"	"c.675+43C>A"	"r.(=)"	"p.(=)"	""
"0000193957"	"00022025"	"90"	"880"	"0"	"880"	"0"	"c.880C>T"	"r.(?)"	"p.(Gln294*)"	"5"
"0000193958"	"00022025"	"90"	"1019"	"0"	"1019"	"0"	"c.1019T>G"	"r.(?)"	"p.(Leu340*)"	"7"
"0000193959"	"00022025"	"90"	"1019"	"0"	"1019"	"0"	"c.1019T>G"	"r.(?)"	"p.(Leu340*)"	"7"
"0000193960"	"00022025"	"90"	"1019"	"0"	"1019"	"0"	"c.1019T>G"	"r.(?)"	"p.(Leu340*)"	"7"
"0000254145"	"00022025"	"30"	"1041"	"0"	"1041"	"0"	"c.1041A>G"	"r.(?)"	"p.(Gln347=)"	""
"0000254758"	"00022025"	"30"	"692"	"0"	"692"	"0"	"c.692A>G"	"r.(?)"	"p.(Asn231Ser)"	""
"0000312107"	"00022025"	"30"	"313"	"-4"	"313"	"-4"	"c.313-4T>C"	"r.spl?"	"p.?"	""
"0000318010"	"00022025"	"30"	"313"	"-4"	"313"	"-4"	"c.313-4T>C"	"r.spl?"	"p.?"	""
"0000318011"	"00022025"	"30"	"283"	"0"	"283"	"0"	"c.283G>C"	"r.(?)"	"p.(Glu95Gln)"	""
"0000318012"	"00022025"	"50"	"1072"	"0"	"1072"	"0"	"c.1072C>T"	"r.(?)"	"p.(Gln358Ter)"	""
"0000325217"	"00022025"	"50"	"-24677"	"0"	"-24677"	"0"	"c.-24677C>T"	"r.(?)"	"p.(=)"	""
"0000347001"	"00022025"	"90"	"656"	"0"	"656"	"0"	"c.656T>G"	"r.(?)"	"p.(Leu219Ter)"	""
"0000560358"	"00022025"	"30"	"112"	"0"	"112"	"0"	"c.112C>A"	"r.(?)"	"p.(Pro38Thr)"	""
"0000560360"	"00022025"	"90"	"465"	"0"	"465"	"0"	"c.465del"	"r.(?)"	"p.(Glu156AsnfsTer8)"	""
"0000560361"	"00022025"	"30"	"898"	"0"	"898"	"0"	"c.898A>C"	"r.(?)"	"p.(Ile300Leu)"	""
"0000560362"	"00022025"	"30"	"906"	"0"	"906"	"0"	"c.906G>A"	"r.(?)"	"p.(Met302Ile)"	""
"0000560363"	"00022025"	"90"	"1006"	"0"	"1006"	"0"	"c.1006C>T"	"r.(?)"	"p.(Gln336Ter)"	""
"0000616357"	"00022025"	"30"	"87"	"0"	"87"	"0"	"c.87C>T"	"r.(?)"	"p.(Leu29=)"	""
"0000616358"	"00022025"	"30"	"977"	"0"	"977"	"0"	"c.977C>T"	"r.(?)"	"p.(Ala326Val)"	""
"0000649495"	"00022025"	"90"	"-42"	"0"	"-42"	"0"	"c.-42G>T"	"r.(=)"	"p.(=)"	""
"0000649496"	"00022025"	"70"	"7"	"0"	"7"	"0"	"c.7C>T"	"r.(?)"	"p.(Arg3Trp)"	""
"0000649497"	"00022025"	"50"	"1841"	"0"	"1841"	"0"	"c.*335C>T"	"r.(=)"	"p.(=)"	""
"0000680787"	"00022025"	"90"	"1108"	"0"	"1112"	"0"	"c.1108_1112del"	"r.(?)"	"p.(Lys370Ter)"	""
"0000692263"	"00022025"	"30"	"369"	"0"	"369"	"0"	"c.369T>A"	"r.(?)"	"p.(Leu123=)"	""
"0000726186"	"00022025"	"50"	"997"	"0"	"997"	"0"	"c.997C>T"	"r.(?)"	"p.(Arg333*)"	""
"0000787457"	"00022025"	"50"	"1108"	"0"	"1112"	"0"	"c.1108_1112del"	"r.(?)"	"p.(Lys370Ter)"	"10"
"0000807818"	"00022025"	"70"	"677"	"-1"	"680"	"0"	"c.677-1_680del"	"r.spl?"	"p.?"	""
"0000865078"	"00022025"	"50"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""
"0000865079"	"00022025"	"50"	"905"	"0"	"905"	"0"	"c.905T>C"	"r.(?)"	"p.(Met302Thr)"	""
"0000893360"	"00022025"	"50"	"146"	"0"	"146"	"0"	"c.146C>T"	"r.(?)"	"p.(Pro49Leu)"	""
"0000982318"	"00022025"	"50"	"618"	"0"	"618"	"0"	"c.618T>G"	"r.(?)"	"p.(Ile206Met)"	""
"0001002940"	"00022025"	"30"	"-194"	"0"	"-194"	"0"	"c.-194C>A"	"r.(?)"	"p.(=)"	""
"0001002941"	"00022025"	"50"	"820"	"0"	"820"	"0"	"c.820A>G"	"r.(?)"	"p.(Arg274Gly)"	""
"0001008558"	"00022025"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0001041629"	"00022025"	"50"	"787"	"0"	"787"	"0"	"c.787G>T"	"r.(?)"	"p.(Ala263Ser)"	""
"0001041630"	"00022025"	"50"	"1116"	"0"	"1116"	"0"	"c.1116A>G"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 13
"{{screeningid}}"	"{{variantid}}"
"0000037359"	"0000064484"
"0000037360"	"0000064485"
"0000037361"	"0000064486"
"0000037362"	"0000064487"
"0000117991"	"0000193957"
"0000117992"	"0000193958"
"0000117993"	"0000193959"
"0000117994"	"0000193960"
"0000292806"	"0000649495"
"0000292807"	"0000649496"
"0000292808"	"0000649497"
"0000375452"	"0000787457"
"0000456312"	"0001008558"