### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ATAD3A)
# 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}}"
"ATAD3A"	"ATPase family, AAA domain containing 3A"	"1"	"p36.33"	"unknown"	"NG_053035.1"	"UD_132438175784"	""	"https://www.LOVD.nl/ATAD3A"	""	"1"	"25567"	"55210"	"612316"	"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/ATAD3A_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2018-08-15 10:40:18"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00003012"	"ATAD3A"	"transcript variant 1"	"001"	"NM_018188.3"	""	"NP_060658.3"	""	""	""	"-126"	"2520"	"1905"	"1447523"	"1470067"	""	"0000-00-00 00:00:00"	""	""
"00025960"	"ATAD3A"	"transcript variant 2 (expired, new version available)"	"002"	"NM_001170535.3"	""	"NP_001164006.1"	""	""	"MANE select"	"-126"	"2376"	"1761"	"1447523"	"1470067"	"00006"	"2024-12-09 14:04:45"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{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"
"01204"	"LAN"	"blood group system, Langereis (LAN)"	""	"111600"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2015-11-25 01:53:21"
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"04293"	"OPA"	"atrophy, optic (OPA)"	""	""	""	""	""	"00006"	"2015-06-21 20:48:01"	"00006"	"2018-11-16 15:59:50"
"05689"	"HAYOS"	"Harel-Yoon syndrome (HAYOS)"	"AD;AR"	"617183"	""	""	""	"00006"	"2020-02-03 22:09:12"	"00006"	"2021-12-10 21:51:32"
"06062"	"PHRINL"	"?Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"	"AR"	"618810"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"ATAD3A"	"05689"
"ATAD3A"	"06062"


## Individuals ## Do not remove or alter this header ##
## Count = 15
"{{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}}"
"00103889"	""	""	""	"1"	""	"00006"	"{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}"	""	""	""	"United States"	""	"0"	""	""	""	"28327206-PatBH5923_1"
"00281806"	""	""	""	"1"	""	"00006"	"{PMID:Gunning 2020:32004445}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.007}"	""	"M"	""	""	"3d"	"0"	""	""	""	"Pat1"
"00281807"	""	""	""	"1"	""	"00006"	"{PMID:Gunning 2020:32004445}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.007}"	""	"F"	""	""	"42d"	"0"	""	""	""	"Pat2"
"00281808"	""	""	""	"1"	""	"00006"	"{PMID:Gunning 2020:32004445}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.007}"	""	"M"	""	""	"5d"	"0"	""	""	""	"Pat3"
"00281809"	""	""	""	"1"	""	"00006"	"{PMID:Gunning 2020:32004445}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.007}"	""	"F"	""	""	"42d"	"0"	""	""	""	"Pat4"
"00281810"	""	""	""	"1"	""	"00006"	"{PMID:Gunning 2020:32004445}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.007}"	""	"M"	""	""	"28d"	"0"	""	""	""	"Pat5"
"00281811"	""	""	""	"2"	""	"00006"	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	"2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Iran"	"5d"	"0"	""	""	""	"FamPatS1a"
"00281812"	""	""	"00281811"	"1"	""	"00006"	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	"brother S1b"	"M"	"yes"	"Iran"	"00y00m01d"	"0"	""	""	""	"FamPatS1b"
"00281813"	""	""	""	"1"	""	"00006"	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Netherlands;Turkey"	"5d"	"0"	""	""	""	"PatS2"
"00281814"	""	""	""	"1"	""	"00006"	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"India"	"2d"	"0"	""	""	""	"PatS3"
"00281815"	""	""	""	"1"	""	"00006"	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Japan"	"7m10d"	"0"	""	""	""	"PatS4"
"00281816"	""	""	""	"1"	""	"00006"	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"France"	">30y"	"0"	""	""	""	"PatS5"
"00362020"	""	""	""	"1"	""	"00006"	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	""	""	""	""	"0"	""	""	""	"PME_FI_F01"
"00448058"	""	""	""	"1"	""	"04650"	""	""	"M"	"no"	"Italy"	""	""	""	""	"Europea"	""
"00461158"	""	""	""	"1"	""	"00006"	"{PMID:Zheng 2024:39423307}"	""	"M"	""	"China"	""	"0"	""	""	""	"F017P018II-1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 15
"{{individualid}}"	"{{diseaseid}}"
"00103889"	"00198"
"00281806"	"00198"
"00281807"	"00198"
"00281808"	"00198"
"00281809"	"00198"
"00281810"	"00198"
"00281811"	"00198"
"00281812"	"00198"
"00281813"	"00198"
"00281814"	"00198"
"00281815"	"00198"
"00281816"	"00198"
"00362020"	"04270"
"00448058"	"01204"
"00461158"	"04293"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01204, 04270, 04293, 05689, 06062
## Count = 15
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Hearing/Problems}}"	"{{Phenotype/Vision/Problems}}"	"{{Phenotype/Development/Motor_skills}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/MRI/brain}}"	"{{Phenotype/Eye/OCT}}"	"{{Phenotype/Vision/Field}}"	"{{Phenotype/Vision/Acuity}}"	"{{Phenotype/Vision/Optic_nerve/Hypoplasia}}"	"{{Phenotype/Vision/Colour}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Habits}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000081816"	"00198"	"00103889"	"00006"	"Isolated (sporadic)"	""	"delayed motor development, hypotonia"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000216384"	"00198"	"00281806"	"00006"	"Isolated (sporadic)"	"00y00m03d"	"3d-deceased; Apgars at birth 3; hypertrophic cardiomyopathy, congenital\r\ncataracts, corneal opacity, postnatal hypotonia, cryptorchidism, micropenis, seizures, encephalopathy, fetal akinesia; increased excretion of fumarate, malate, 2-ketoglutarate, 3-methylglutaconate, and 3-methylglutarate"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"fetal akinesia"	""	""
"0000216385"	"00198"	"00281807"	"00006"	"Isolated (sporadic)"	"00y00m42d"	"6w-deceased; Apgars at birth poor; dilated cardiomyopathy, corneal opacity, postnatal hypotonia, EEG diffuse abnormalities; fetal hydrops, edema; lactic acidosis; MRI-brain white matter changes, simplified gyral patterning, cerebellar atrophy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000216386"	"00198"	"00281808"	"00006"	"Isolated (sporadic)"	"00y00m05d"	"5d-deceased; Apgars at birth 1; dilated cardiomyopathy, cardiomegaly, corneal opacity, postnatal hypotonia, encephalopathy, contractures; fetal hydrops; widespread hypoxic brain damage (postmortem)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000216387"	"00198"	"00281809"	"00006"	"Isolated (sporadic)"	"00y00m42d"	"6w-deceased; Apgars at birth 5,8,9; hypertrophic cardiomyopathy, cardiomegaly, corneal opacity, postnatal hypotonia; EEG diffuse abnormalities; diffuse bilateral abnormal subcortical, periventricular, and deep white matter, abnormal MR spectroscopy; lactic acidosis; increased excretion 2OH butyrate, fumarate, and 3OH isobutyrate"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000216388"	"00198"	"00281810"	"00006"	"Isolated (sporadic)"	"00y00m28d"	"4w-deceased; Apgars at birth 1,0; hypertrophic cardiomyopathy, cardiomegaly, corneal opacity, postnatal hypotonia, hypospadias, seizures; MRI-brain white matter changes, generalized reduction brain volume); 9d-abnormal MR spectroscopy (lactate peak); contractures; 22d-lactic acidosis, increased excretion of fumarate, malate"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000216389"	"00198"	"00281811"	"00006"	"Familial, autosomal recessive"	"5d"	"5d-died; polyhydramnios, reduced foetal and no postnatal spontaneous movements, required ventilation, dysmorphic features, severe encephalopathy; MRI-brain cerebellar and brainstem hypoplasia with simplified anterior gyral pattern anteriorly, diffuse white matter signal abnormality, marked ex vacuo ventricular dilatation consistent with global atrophy; plasma lactate elevated up to 6.2 mM, borderline low CI, CIII, CIV in skeletal muscle but normal in skin fibroblasts, decreased steady state levels of a critical CI and CIV subunit in fibroblasts and RNASeq results indicative of decreased expression of a broad range of OXPHOS factors"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000216390"	"00198"	"00281812"	"00006"	"Familial, autosomal recessive"	"1d"	"1d-died; reduced foetal movements, foetus died intrapartum during a lengthy labour; borderline-low CI, CIII, CIV in skeletal muscle and borderline- low CI, CII, CIII in liver"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000216391"	"00198"	"00281813"	"00006"	"Familial, autosomal recessive"	"5d"	"5d-died; polyhydramnios and lack of foetal movements. Caesarean section at 33 weeks due to foetal distress, no spontaneous movements, required ventilation, dysmorphic features, severe encephalopathy; MRI-brain cerebellar hypoplasia, abnormalities of cortical gyration and periventricular white matter abnormalities; plasma lactate elevated (2.7 to 4.4 mM), elevated urine 3-methylglutaconate and 3-methylglutatarate. Decreased CI, CIII, CIV in skin fibroblasts but normal in skeletal muscle and liver"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000216392"	"00198"	"00281814"	"00006"	"Familial, autosomal recessive"	"2d"	"2d-died; polyhydramnios. Caesarean section at 33 weeks due to foetal distress. Required ventilation, dysmorphic features, severe encephalopathy; MRI-brain pontocerebellar hypoplasia, supratentorial white matter and cortical abnormalities, ventricular dilatation, simplified gyral pattern; plasma lactate levels slightly elevated at 2.6 mM"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000216393"	"00198"	"00281815"	"00006"	"Familial, autosomal recessive"	"7m10d"	"7m10d-died; reduced foetal movements, spontaneous delivery, cyanosis, no spontaneous respiration with Apgar score of 6/6, required ventilation throughout his life, progressive cardiac hypertrophy; MRI-brain cerebral, cerebellar and brain stem atrophy, simplified gyral pattern in the frontal lobes, haemorrhage from bilateral lateral ventricles; CSF lactate elevated (3.4 mM). Low oxygen consumption rate in skin fibroblasts but activities of CI, CII, CII+III, CIII and CIV were normal"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000216394"	"00198"	"00281816"	"00006"	"Familial, autosomal recessive"	"30y"	"moderate mental retardation since childhood, dystonia, psychiatric problems, cerebellar ataxia since about 25 years; MRI-brain cerebellar atrophy; normal metabolic investigations, normal histological analysis of muscle biopsy, fibroblasts decreased steady state levels of a critical CI and CIV subunit, and RNASeq results indicative of decreased expression of a broad range of OXPHOS factors"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000257434"	"04270"	"00362020"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"progressive myoclonus epilepsy"	""	""
"0000337248"	"01204"	"00448058"	"04650"	"Familial, autosomal dominant"	"7"	"Delayed speech and language development HP:0000750 \r\nThick vermilion border HP:0012471\r\nClinodactyly of the 5th finger HP:0004209\r\nOpen mouth HP:0000194\r\nMild global developmental delay HP:0011342"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000348658"	"04293"	"00461158"	"00006"	"Familial, autosomal dominant"	"13y"	"see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.25/OS 0.5; fundus oculi (first visit) OD temporal pallor/OS temporal pallor; OCT OD temporal thinning/OS temporal thinning; flash visual evoked potentials PL, DA (OD/OS);"	"12y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"optic atrophy"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 15
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000104347"	"00103889"	"1"	"00006"	"00006"	"2017-04-22 16:52:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000282952"	"00281806"	"1"	"00006"	"00006"	"2020-02-03 20:47:36"	"00006"	"2020-02-03 21:15:23"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000282953"	"00281807"	"1"	"00006"	"00006"	"2020-02-03 20:47:36"	"00006"	"2020-02-03 21:15:56"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000282954"	"00281808"	"1"	"00006"	"00006"	"2020-02-03 20:47:36"	"00006"	"2020-02-03 21:19:13"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000282955"	"00281809"	"1"	"00006"	"00006"	"2020-02-03 20:47:36"	"00006"	"2020-02-03 21:24:08"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000282956"	"00281810"	"1"	"00006"	"00006"	"2020-02-03 20:47:36"	"00006"	"2020-02-03 21:21:38"	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000282957"	"00281811"	"1"	"00006"	"00006"	"2020-02-03 22:05:46"	""	""	"arrayCGH;PCR;SEQ"	"DNA"	""	""
"0000282958"	"00281812"	"1"	"00006"	"00006"	"2020-02-03 22:05:46"	""	""	"arrayCGH;PCR;SEQ"	"DNA"	""	""
"0000282959"	"00281813"	"1"	"00006"	"00006"	"2020-02-03 22:05:46"	""	""	"arrayCGH;PCR;SEQ"	"DNA"	""	""
"0000282960"	"00281814"	"1"	"00006"	"00006"	"2020-02-03 22:05:46"	""	""	"arrayCGH;PCR;SEQ"	"DNA"	""	""
"0000282961"	"00281815"	"1"	"00006"	"00006"	"2020-02-03 22:05:46"	""	""	"arrayCGH;PCR;SEQ"	"DNA"	""	""
"0000282962"	"00281816"	"1"	"00006"	"00006"	"2020-02-03 22:05:46"	"00006"	"2020-02-04 20:07:24"	"arrayCGH;PCR;SEQ"	"DNA"	""	""
"0000363248"	"00362020"	"1"	"00006"	"00006"	"2021-04-14 11:32:13"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000449632"	"00448058"	"1"	"04650"	"04650"	"2024-02-14 11:46:02"	""	""	"SEQ-NG"	"DNA"	"Blood sample"	"Gene panel"
"0000462790"	"00461158"	"1"	"00006"	"00006"	"2025-01-31 10:20:27"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 28
"{{screeningid}}"	"{{geneid}}"
"0000104347"	"ATAD3A"
"0000282952"	"ATAD3A"
"0000282952"	"ATAD3B"
"0000282952"	"ATAD3C"
"0000282953"	"ATAD3A"
"0000282953"	"ATAD3B"
"0000282953"	"ATAD3C"
"0000282954"	"ATAD3A"
"0000282954"	"ATAD3B"
"0000282954"	"ATAD3C"
"0000282955"	"ATAD3A"
"0000282955"	"ATAD3B"
"0000282955"	"ATAD3C"
"0000282956"	"ATAD3A"
"0000282956"	"ATAD3B"
"0000282956"	"ATAD3C"
"0000282957"	"ATAD3A"
"0000282957"	"ATAD3B"
"0000282958"	"ATAD3A"
"0000282958"	"ATAD3B"
"0000282959"	"ATAD3A"
"0000282959"	"ATAD3B"
"0000282960"	"ATAD3A"
"0000282960"	"ATAD3B"
"0000282961"	"ATAD3A"
"0000282961"	"ATAD3B"
"0000282962"	"ATAD3A"
"0000282962"	"ATAD3B"


## 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 = 137
"{{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}}"
"0000169027"	"1"	"90"	"1"	"1464679"	"1464679"	"subst"	"0"	"00006"	"ATAD3A_000001"	"g.1464679C>T"	""	"{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}"	""	"NM_001170535:c.1582C>T (R528W)"	""	"De novo"	""	""	"0"	""	""	"g.1529299C>T"	""	"pathogenic"	""
"0000316693"	"0"	"30"	"1"	"1470829"	"1470829"	"subst"	"0.000177433"	"01943"	"TMEM240_000002"	"g.1470829C>T"	""	""	""	"TMEM240(NM_001114748.1):c.432G>A (p.P144=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1535449C>T"	""	"likely benign"	""
"0000316694"	"0"	"10"	"1"	"1470769"	"1470769"	"subst"	"0.00111863"	"01943"	"TMEM240_000001"	"g.1470769G>A"	""	""	""	"TMEM240(NM_001114748.1):c.492C>T (p.H164=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1535389G>A"	""	"benign"	""
"0000320438"	"0"	"50"	"1"	"1447667"	"1447667"	"subst"	"0"	"01804"	"ATAD3A_000002"	"g.1447667A>G"	""	""	""	"ATAD3A(NM_001170535.1):c.19A>G (p.(Ile7Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1512287A>G"	""	"VUS"	""
"0000320439"	"0"	"70"	"1"	"1451416"	"1451416"	"subst"	"0"	"01804"	"ATAD3A_000003"	"g.1451416T>G"	""	""	""	"ATAD3A(NM_018188.3):c.230T>G (p.(Leu77Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1516036T>G"	""	"likely pathogenic"	""
"0000320440"	"0"	"70"	"1"	"1454346"	"1454346"	"subst"	"4.06299E-6"	"01804"	"ATAD3A_000004"	"g.1454346C>T"	""	""	""	"ATAD3A(NM_018188.3):c.634C>T (p.(Gln212Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1518966C>T"	""	"likely pathogenic"	""
"0000320443"	"0"	"50"	"1"	"1469324"	"1469324"	"subst"	"0.000428215"	"01804"	"ATAD3A_000007"	"g.1469324G>A"	""	""	""	"ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_001170535.3):c.1633G>A (p.E545K), ATAD3A(NM_018188.4):c.1777G>A (p.E593K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1533944G>A"	""	"VUS"	""
"0000320444"	"0"	"50"	"1"	"1469330"	"1469330"	"subst"	"5.29648E-5"	"01804"	"ATAD3A_000008"	"g.1469330G>A"	""	""	""	"ATAD3A(NM_001170535.1):c.1639G>A (p.(Gly547Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1533950G>A"	""	"VUS"	""
"0000342481"	"0"	"50"	"1"	"1455662"	"1455662"	"subst"	"0"	"02327"	"ATAD3A_000009"	"g.1455662G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1520282G>A"	""	"VUS"	""
"0000346215"	"0"	"50"	"1"	"1471146"	"1471146"	"subst"	"0"	"02327"	"TMEM240_000006"	"g.1471146C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1535766C>T"	""	"VUS"	""
"0000348236"	"0"	"90"	"1"	"1470752"	"1470752"	"subst"	"0"	"02327"	"TMEM240_000005"	"g.1470752G>A"	""	""	""	"TMEM240(NM_001114748.1):c.509C>T (p.(Pro170Leu)), TMEM240(NM_001114748.2):c.509C>T (p.P170L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1535372G>A"	""	"pathogenic"	""
"0000502940"	"0"	"10"	"1"	"1447693"	"1447693"	"subst"	"0.00245499"	"01943"	"ATAD3A_000010"	"g.1447693C>T"	""	""	""	"ATAD3A(NM_018188.4):c.45C>T (p.G15=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1512313C>T"	""	"benign"	""
"0000502941"	"0"	"30"	"1"	"1447735"	"1447735"	"subst"	"0"	"01943"	"ATAD3A_000011"	"g.1447735C>A"	""	""	""	"ATAD3A(NM_018188.4):c.87C>A (p.A29=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1512355C>A"	""	"likely benign"	""
"0000502956"	"0"	"30"	"1"	"1452551"	"1452551"	"subst"	"0.0391394"	"01804"	"ATAD3A_000012"	"g.1452551G>A"	""	""	""	"ATAD3A(NM_018188.3):c.287G>A (p.(Arg96Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1517171G>A"	""	"likely benign"	""
"0000502957"	"0"	"30"	"1"	"1452566"	"1452566"	"subst"	"0"	"01804"	"ATAD3A_000013"	"g.1452566G>A"	""	""	""	"ATAD3A(NM_018188.3):c.302G>A (p.(Ser101Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1517186G>A"	""	"likely benign"	""
"0000502959"	"0"	"30"	"1"	"1452604"	"1452604"	"subst"	"0.000435102"	"01804"	"ATAD3A_000015"	"g.1452604C>T"	""	""	""	"ATAD3A(NM_018188.3):c.340C>T (p.(Arg114Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1517224C>T"	""	"likely benign"	""
"0000502961"	"0"	"30"	"1"	"1452646"	"1452646"	"subst"	"3.38648E-5"	"01804"	"ATAD3A_000017"	"g.1452646G>A"	""	""	""	"ATAD3A(NM_018188.3):c.382G>A (p.(Ala128Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1517266G>A"	""	"likely benign"	""
"0000502978"	"0"	"30"	"1"	"1454304"	"1454304"	"subst"	"2.84333E-5"	"01804"	"ATAD3A_000018"	"g.1454304C>T"	""	""	""	"ATAD3A(NM_001170535.1):c.448C>T (p.(Leu150Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1518924C>T"	""	"likely benign"	""
"0000502991"	"0"	"30"	"1"	"1455577"	"1455577"	"subst"	"0"	"01804"	"ATAD3A_000019"	"g.1455577G>A"	""	""	""	"ATAD3A(NM_001170535.1):c.571G>A (p.(Ala191Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1520197G>A"	""	"likely benign"	""
"0000502996"	"0"	"30"	"1"	"1455977"	"1455977"	"subst"	"0"	"01804"	"ATAD3A_000020"	"g.1455977T>C"	""	""	""	"ATAD3A(NM_001170535.1):c.730T>C (p.(Trp244Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1520597T>C"	""	"likely benign"	""
"0000502998"	"0"	"30"	"1"	"1458118"	"1458118"	"subst"	"0.000498627"	"01943"	"ATAD3A_000021"	"g.1458118C>T"	""	""	""	"ATAD3A(NM_018188.4):c.895-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1522738C>T"	""	"likely benign"	""
"0000502999"	"0"	"50"	"1"	"1458886"	"1458886"	"subst"	"0.00124517"	"01943"	"ATAD3A_000022"	"g.1458886G>A"	""	""	""	"ATAD3A(NM_018188.4):c.1051-5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1523506G>A"	""	"VUS"	""
"0000503001"	"0"	"50"	"1"	"1458924"	"1458924"	"subst"	"0"	"01943"	"ATAD3A_000024"	"g.1458924G>A"	""	""	""	"ATAD3A(NM_018188.4):c.1084G>A (p.A362T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1523544G>A"	""	"VUS"	""
"0000503002"	"0"	"30"	"1"	"1459221"	"1459221"	"subst"	"3.25129E-5"	"01943"	"ATAD3A_000025"	"g.1459221C>T"	""	""	""	"ATAD3A(NM_018188.4):c.1110C>T (p.P370=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1523841C>T"	""	"likely benign"	""
"0000503003"	"0"	"30"	"1"	"1459352"	"1459352"	"subst"	"0.000903262"	"01804"	"ATAD3A_000026"	"g.1459352C>T"	""	""	""	"ATAD3A(NM_001170535.1):c.1089+8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1523972C>T"	""	"likely benign"	""
"0000503004"	"0"	"50"	"1"	"1459697"	"1459697"	"subst"	"5.29519E-5"	"01943"	"ATAD3A_000027"	"g.1459697C>T"	""	""	""	"ATAD3A(NM_018188.4):c.1278C>T (p.G426=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1524317C>T"	""	"VUS"	""
"0000503005"	"0"	"30"	"1"	"1459771"	"1459771"	"subst"	"0.000740143"	"01804"	"ATAD3A_000028"	"g.1459771G>A"	""	""	""	"ATAD3A(NM_001170535.1):c.1208G>A (p.(Arg403Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1524391G>A"	""	"likely benign"	""
"0000503006"	"0"	"10"	"1"	"1460614"	"1460614"	"subst"	"0.00270207"	"01943"	"ATAD3A_000029"	"g.1460614T>C"	""	""	""	"ATAD3A(NM_018188.4):c.1359-6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1525234T>C"	""	"benign"	""
"0000503008"	"0"	"30"	"1"	"1463084"	"1463084"	"subst"	"0.0010182"	"01943"	"ATAD3A_000031"	"g.1463084G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.1347G>A (p.L449=), ATAD3A(NM_018188.4):c.1491G>A (p.L497=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1527704G>A"	""	"likely benign"	""
"0000503012"	"0"	"50"	"1"	"1464685"	"1464685"	"subst"	"0.000118198"	"01804"	"ATAD3A_000032"	"g.1464685A>G"	""	""	""	"ATAD3A(NM_001170535.1):c.1588A>G (p.(Ile530Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1529305A>G"	""	"VUS"	""
"0000503014"	"0"	"50"	"1"	"1469394"	"1469394"	"subst"	"0.00335134"	"01943"	"ATAD3A_000033"	"g.1469394A>T"	""	""	""	"ATAD3A(NM_018188.4):c.1847A>T (p.K616M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1534014A>T"	""	"VUS"	""
"0000503015"	"0"	"30"	"1"	"1470808"	"1470808"	"subst"	"0.00424115"	"01943"	"ATAD3A_000034"	"g.1470808G>A"	""	""	""	"TMEM240(NM_001114748.1):c.453C>T (p.A151=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1535428G>A"	""	"likely benign"	""
"0000503017"	"0"	"50"	"1"	"1470872"	"1470872"	"subst"	"0"	"02327"	"ATAD3A_000035"	"g.1470872C>T"	""	""	""	"TMEM240(NM_001114748.2):c.389G>A (p.W130*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1535492C>T"	""	"VUS"	""
"0000503023"	"0"	"50"	"1"	"1471061"	"1471061"	"subst"	"0"	"02327"	"ATAD3A_000036"	"g.1471061A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1535681A>T"	""	"VUS"	""
"0000503025"	"0"	"30"	"1"	"1471078"	"1471078"	"subst"	"3.31745E-5"	"01943"	"ATAD3A_000038"	"g.1471078G>A"	""	""	""	"TMEM240(NM_001114748.1):c.264C>T (p.I88=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1535698G>A"	""	"likely benign"	""
"0000503026"	"0"	"50"	"1"	"1471103"	"1471103"	"subst"	"3.98047E-5"	"01943"	"ATAD3A_000039"	"g.1471103G>A"	""	""	""	"TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1535723G>A"	""	"VUS"	""
"0000503027"	"0"	"30"	"1"	"1471103"	"1471103"	"subst"	"3.98047E-5"	"02327"	"ATAD3A_000039"	"g.1471103G>A"	""	""	""	"TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1535723G>A"	""	"likely benign"	""
"0000604771"	"0"	"50"	"1"	"1469302"	"1469302"	"subst"	"0"	"02329"	"ATAD3A_000042"	"g.1469302C>G"	""	""	""	"ATAD3A(NM_018188.5):c.1759-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1533922C>G"	""	"VUS"	""
"0000620381"	"0"	"50"	"1"	"1458925"	"1458925"	"subst"	"0.000404809"	"02325"	"ATAD3A_000040"	"g.1458925C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.941C>T (p.(Ala314Val)), ATAD3A(NM_018188.5):c.1085C>T (p.A362V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1523545C>T"	""	"VUS"	""
"0000620382"	"0"	"50"	"1"	"1459774"	"1459774"	"subst"	"4.51533E-5"	"02325"	"ATAD3A_000041"	"g.1459774G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.1211G>A (p.(Arg404His)), ATAD3A(NM_018188.5):c.1355G>A (p.R452H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1524394G>A"	""	"VUS"	""
"0000638700"	"0"	"90"	"1"	"1391996"	"1460043"	"dup"	"0"	"00006"	"ATAD3A_000043"	"g.1391996_1460043dup"	""	"{PMID:Gunning 2020:32004445}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.007}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.1456616_1524663dup"	""	"pathogenic (dominant)"	""
"0000638701"	"0"	"90"	"1"	"1391996"	"1460043"	"dup"	"0"	"00006"	"ATAD3A_000043"	"g.1391996_1460043dup"	""	"{PMID:Gunning 2020:32004445}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.007}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.1456616_1524663dup"	""	"pathogenic (dominant)"	""
"0000638702"	"0"	"90"	"1"	"1391996"	"1460043"	"dup"	"0"	"00006"	"ATAD3A_000043"	"g.1391996_1460043dup"	""	"{PMID:Gunning 2020:32004445}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.007}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.1456616_1524663dup"	""	"pathogenic (dominant)"	""
"0000638703"	"0"	"90"	"1"	"1391996"	"1460043"	"dup"	"0"	"00006"	"ATAD3A_000043"	"g.1391996_1460043dup"	""	"{PMID:Gunning 2020:32004445}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.007}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.1456616_1524663dup"	""	"pathogenic (dominant)"	""
"0000638704"	"0"	"90"	"1"	"1392270"	"1460317"	"dup"	"0"	"00006"	"ATAD3A_000044"	"g.1392270_1460317dup"	""	"{PMID:Gunning 2020:32004445}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.007}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.1456890_1524937dup"	""	"pathogenic (dominant)"	""
"0000638705"	"3"	"90"	"1"	"1416370"	"1454423"	"del"	"0"	"00006"	"ATAD3A_000045"	"g.1416370_1454423del"	""	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1480990_1519043del"	""	"pathogenic (recessive)"	""
"0000638706"	"3"	"90"	"1"	"1416370"	"1454423"	"del"	"0"	"00006"	"ATAD3A_000045"	"g.1416370_1454423del"	""	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1480990_1519043del"	""	"pathogenic (recessive)"	""
"0000638707"	"11"	"90"	"1"	"1416370"	"1454423"	"del"	"0"	"00006"	"ATAD3A_000045"	"g.1416370_1454423del"	""	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1480990_1519043del"	""	"pathogenic (recessive)"	""
"0000638709"	"3"	"90"	"1"	"1414743"	"1453409"	"del"	"0"	"00006"	"ATAD3A_000046"	"g.1414743_1453409del"	""	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1479363_1518029del"	""	"pathogenic (recessive)"	""
"0000638710"	"3"	"90"	"1"	"1414585"	"1453251"	"del"	"0"	"00006"	"ATAD3A_000047"	"g.1414585_1453251del"	""	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1479205_1517871del"	""	"pathogenic (recessive)"	""
"0000638711"	"21"	"90"	"1"	"1413884"	"1452550"	"del"	"0"	"00006"	"ATAD3A_000048"	"g.1413884_1452550del"	""	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1478504_1517170del"	""	"pathogenic (recessive)"	""
"0000638712"	"1"	"90"	"1"	"1383089"	"1447325"	"del"	"0"	"00006"	"ATAD3A_000049"	"g.(?_1383089)_(1447325_?)del"	""	"{PMID:Desai 2017:28549128}, {DOI:Desai 2017:10.1093/brain/awx094}"	""	""	"43 to 61 kb deletion; the other allele has a deletion like in patients S2/S3 but probably also involving a partial gene conversion"	"Germline"	""	""	"0"	""	""	"g.(?_1447709)_(1511945_?)del"	""	"pathogenic (recessive)"	""
"0000653647"	"0"	"50"	"1"	"1455610"	"1455610"	"subst"	"0.00100462"	"01943"	"ATAD3A_000051"	"g.1455610G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.604G>A (p.E202K), ATAD3A(NM_018188.4):c.748G>A (p.E250K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1520230G>A"	""	"VUS"	""
"0000653648"	"0"	"30"	"1"	"1455652"	"1455652"	"subst"	"0"	"01943"	"ATAD3A_000052"	"g.1455652G>T"	""	""	""	"ATAD3A(NM_018188.4):c.790G>T (p.A264S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1520272G>T"	""	"likely benign"	""
"0000653649"	"0"	"50"	"1"	"1458190"	"1458190"	"subst"	"8.1829E-6"	"01943"	"ATAD3A_000053"	"g.1458190C>A"	""	""	""	"ATAD3A(NM_018188.4):c.961C>A (p.R321S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1522810C>A"	""	"VUS"	""
"0000675455"	"0"	"30"	"1"	"1451420"	"1451420"	"subst"	"0.000329217"	"01943"	"ATAD3A_000054"	"g.1451420A>G"	""	""	""	"ATAD3A(NM_018188.4):c.234A>G (p.A78=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675456"	"0"	"50"	"1"	"1453123"	"1453123"	"subst"	"4.85112E-5"	"01804"	"ATAD3A_000055"	"g.1453123C>T"	""	""	""	"ATAD3A(NM_001170535.1):c.412C>T (p.(Arg186Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000687856"	"0"	"50"	"1"	"1461877"	"1461877"	"subst"	"1.25476E-5"	"01943"	"ATAD3A_000057"	"g.1461877G>A"	""	""	""	"ATAD3A(NM_018188.4):c.1447G>A (p.A483T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000687857"	"0"	"50"	"1"	"1463148"	"1463148"	"subst"	"1.21892E-5"	"01943"	"ATAD3A_000058"	"g.1463148G>A"	""	""	""	"ATAD3A(NM_018188.4):c.1555G>A (p.V519I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000687858"	"0"	"50"	"1"	"1469324"	"1469324"	"subst"	"0.000428215"	"01943"	"ATAD3A_000007"	"g.1469324G>A"	""	""	""	"ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_001170535.3):c.1633G>A (p.E545K), ATAD3A(NM_018188.4):c.1777G>A (p.E593K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716769"	"0"	"90"	"1"	"1459651"	"1459651"	"subst"	"0"	"01943"	"ATAD3A_000059"	"g.1459651A>T"	""	""	""	"ATAD3A(NM_018188.4):c.1234-2A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000716770"	"0"	"50"	"1"	"1463133"	"1463133"	"subst"	"0"	"01804"	"ATAD3A_000060"	"g.1463133C>T"	""	""	""	"ATAD3A(NM_001170535.1):c.1396C>T (p.(Arg514Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716771"	"0"	"30"	"1"	"1469412"	"1469412"	"subst"	"0.000752626"	"01943"	"ATAD3A_000061"	"g.1469412C>T"	""	""	""	"ATAD3A(NM_018188.4):c.1865C>T (p.A622V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716772"	"0"	"30"	"1"	"1470807"	"1470807"	"subst"	"0.0321984"	"01804"	"ATAD3A_000062"	"g.1470807C>T"	""	""	""	"TMEM240(NM_001114748.1):c.454G>A (p.(Ala152Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716773"	"0"	"50"	"1"	"1470872"	"1470872"	"subst"	"0"	"02325"	"ATAD3A_000035"	"g.1470872C>T"	""	""	""	"TMEM240(NM_001114748.2):c.389G>A (p.W130*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716775"	"0"	"50"	"1"	"1471103"	"1471103"	"subst"	"3.98047E-5"	"02325"	"ATAD3A_000039"	"g.1471103G>A"	""	""	""	"TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000763814"	"0"	"70"	"1"	"1464680"	"1464680"	"subst"	"0"	"00006"	"ATAD3A_000063"	"g.1464680G>A"	""	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	"1727G>A (Arg576Gln)"	"ACMG PS2, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.1529300G>A"	""	"likely pathogenic"	"ACMG"
"0000798756"	"0"	"50"	"1"	"1455628"	"1455628"	"subst"	"6.93142E-5"	"02325"	"ATAD3A_000064"	"g.1455628C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.622C>T (p.R208C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000798758"	"0"	"30"	"1"	"1470811"	"1470811"	"subst"	"1.40197E-5"	"01943"	"ATAD3A_000065"	"g.1470811C>T"	""	""	""	"TMEM240(NM_001114748.1):c.450G>A (p.E150=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000798759"	"0"	"30"	"1"	"1471015"	"1471015"	"subst"	"0.000127963"	"01943"	"ATAD3A_000066"	"g.1471015G>A"	""	""	""	"TMEM240(NM_001114748.1):c.327C>T (p.G109=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848278"	"0"	"50"	"1"	"1452703"	"1452703"	"subst"	"0.000936419"	"02325"	"ATAD3A_000067"	"g.1452703G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.295G>A (p.A99T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848280"	"0"	"50"	"1"	"1455979"	"1455979"	"subst"	"1.62616E-5"	"01943"	"ATAD3A_000068"	"g.1455979G>C"	""	""	""	"ATAD3A(NM_018188.4):c.876G>C (p.W292C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848281"	"0"	"30"	"1"	"1464687"	"1464687"	"subst"	"2.29929E-5"	"01943"	"ATAD3A_000069"	"g.1464687C>A"	""	""	""	"ATAD3A(NM_018188.4):c.1734C>A (p.I578=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856948"	"0"	"50"	"1"	"1455610"	"1455610"	"subst"	"0.00100462"	"02325"	"ATAD3A_000051"	"g.1455610G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.604G>A (p.E202K), ATAD3A(NM_018188.4):c.748G>A (p.E250K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000882748"	"0"	"30"	"1"	"1454362"	"1454362"	"subst"	"0"	"02327"	"ATAD3A_000070"	"g.1454362T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000882751"	"0"	"30"	"1"	"1470837"	"1470837"	"subst"	"6.38715E-5"	"02325"	"ATAD3A_000071"	"g.1470837G>A"	""	""	""	"TMEM240(NM_001114748.2):c.424C>T (p.R142W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000910766"	"0"	"10"	"1"	"1447756"	"1447756"	"subst"	"0"	"02325"	"ATAD3A_000072"	"g.1447756G>C"	""	""	""	"ATAD3A(NM_001170535.3):c.108G>C (p.G36=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000910767"	"0"	"10"	"1"	"1451380"	"1451380"	"subst"	"0.274552"	"02325"	"ATAD3A_000073"	"g.1451380T>C"	""	""	""	"ATAD3A(NM_001170535.3):c.206-12T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000910769"	"0"	"10"	"1"	"1455698"	"1455698"	"subst"	"0.0026892"	"02325"	"ATAD3A_000074"	"g.1455698C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.680+12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000910770"	"0"	"50"	"1"	"1458187"	"1458187"	"subst"	"3.68204E-5"	"02325"	"ATAD3A_000075"	"g.1458187G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.814G>A (p.G272S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000910771"	"0"	"10"	"1"	"1458285"	"1458285"	"subst"	"0.102778"	"02325"	"ATAD3A_000076"	"g.1458285A>G"	""	""	""	"ATAD3A(NM_001170535.3):c.906+6A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000910772"	"0"	"30"	"1"	"1459269"	"1459269"	"subst"	"0.0012473"	"02326"	"ATAD3A_000077"	"g.1459269C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.1014C>T (p.T338=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000910773"	"0"	"10"	"1"	"1469289"	"1469289"	"subst"	"0.344239"	"02325"	"ATAD3A_000078"	"g.1469289G>C"	""	""	""	"ATAD3A(NM_001170535.3):c.1615-17G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000910774"	"0"	"30"	"1"	"1469501"	"1469501"	"subst"	"0.00974449"	"02325"	"ATAD3A_000079"	"g.1469501C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.*49C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000922940"	"0"	"30"	"1"	"1469341"	"1469341"	"subst"	"0.0012619"	"02326"	"ATAD3A_000080"	"g.1469341C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.1650C>T (p.T550=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000922941"	"0"	"50"	"1"	"1471103"	"1471103"	"subst"	"3.98047E-5"	"02329"	"ATAD3A_000039"	"g.1471103G>A"	""	""	""	"TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928003"	"0"	"50"	"1"	"1451444"	"1451444"	"subst"	"0"	"02325"	"ATAD3A_000081"	"g.1451444G>T"	""	""	""	"ATAD3A(NM_001170535.3):c.258G>T (p.Q86H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000946958"	"0"	"30"	"1"	"1454287"	"1454287"	"subst"	"0.00109684"	"02326"	"ATAD3A_000082"	"g.1454287C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.445-14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000946963"	"0"	"30"	"1"	"1456007"	"1456007"	"subst"	"0.000268424"	"02326"	"ATAD3A_000083"	"g.1456007C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.750+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000946964"	"0"	"30"	"1"	"1458107"	"1458107"	"subst"	"0.000155518"	"02326"	"ATAD3A_000084"	"g.1458107C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.751-17C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000946965"	"0"	"50"	"1"	"1458143"	"1458143"	"subst"	"0"	"02325"	"ATAD3A_000085"	"g.1458143T>C"	""	""	""	"ATAD3A(NM_001170535.3):c.770T>C (p.L257P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000946966"	"0"	"30"	"1"	"1459323"	"1459323"	"subst"	"0.0017638"	"02326"	"ATAD3A_000086"	"g.1459323C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.1068C>T (p.T356=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000946967"	"0"	"30"	"1"	"1463084"	"1463084"	"subst"	"0.0010182"	"02326"	"ATAD3A_000031"	"g.1463084G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.1347G>A (p.L449=), ATAD3A(NM_018188.4):c.1491G>A (p.L497=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000946970"	"0"	"50"	"1"	"1469324"	"1469324"	"subst"	"0.000428215"	"02325"	"ATAD3A_000007"	"g.1469324G>A"	""	""	""	"ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_001170535.3):c.1633G>A (p.E545K), ATAD3A(NM_018188.4):c.1777G>A (p.E593K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000946971"	"0"	"50"	"1"	"1469394"	"1469396"	"del"	"0"	"02325"	"ATAD3A_000087"	"g.1469394_1469396del"	""	""	""	"ATAD3A(NM_001170535.3):c.1703_1705delAGA (p.K568del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000946972"	"0"	"90"	"1"	"1470752"	"1470752"	"subst"	"0"	"02329"	"TMEM240_000005"	"g.1470752G>A"	""	""	""	"TMEM240(NM_001114748.1):c.509C>T (p.(Pro170Leu)), TMEM240(NM_001114748.2):c.509C>T (p.P170L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000960066"	"11"	"50"	"1"	"1455930"	"1455930"	"subst"	"1.62569E-5"	"04650"	"ATAD3A_000088"	"g.1455930C>T"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.1520550C>T"	""	"VUS"	"ACMG"
"0000960461"	"0"	"50"	"1"	"1454337"	"1454337"	"subst"	"0"	"02325"	"ATAD3A_000089"	"g.1454337G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.481G>A (p.E161K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000960464"	"0"	"50"	"1"	"1464605"	"1464605"	"subst"	"8.09855E-5"	"02325"	"ATAD3A_000090"	"g.1464605G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.1508G>A (p.(Arg503His), p.R503H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973274"	"0"	"50"	"1"	"1452577"	"1452577"	"subst"	"0"	"01804"	"ATAD3A_000091"	"g.1452577A>G"	""	""	""	"ATAD3A(NM_018188.5):c.313A>G (p.(Thr105Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973276"	"0"	"50"	"1"	"1453133"	"1453133"	"subst"	"0"	"01804"	"ATAD3A_000092"	"g.1453133A>G"	""	""	""	"ATAD3A(NM_001170535.3):c.422A>G (p.(Tyr141Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973282"	"0"	"50"	"1"	"1455569"	"1455569"	"subst"	"0.00013555"	"01804"	"ATAD3A_000093"	"g.1455569G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.563G>A (p.(Arg188Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973283"	"0"	"30"	"1"	"1455923"	"1455923"	"subst"	"1.62549E-5"	"01804"	"ATAD3A_000094"	"g.1455923C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.681-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973284"	"0"	"50"	"1"	"1460657"	"1460657"	"subst"	"0.000207211"	"01804"	"ATAD3A_000095"	"g.1460657C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.1252C>T (p.(Arg418Trp), p.R418W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973285"	"0"	"50"	"1"	"1464688"	"1464688"	"subst"	"9.28229E-6"	"01804"	"ATAD3A_000096"	"g.1464688G>A"	""	""	""	"ATAD3A(NM_001170535.1):c.1591G>A (p.(Ala531Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990223"	"0"	"30"	"1"	"1447667"	"1447667"	"subst"	"0"	"02327"	"ATAD3A_000002"	"g.1447667A>G"	""	""	""	"ATAD3A(NM_001170535.1):c.19A>G (p.(Ile7Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990225"	"0"	"70"	"1"	"1451415"	"1451415"	"subst"	"0.000434867"	"01804"	"ATAD3A_000097"	"g.1451415C>G"	""	""	""	"ATAD3A(NM_001170535.1):c.229C>G (p.(Leu77Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000990226"	"0"	"30"	"1"	"1451433"	"1451433"	"subst"	"8.13431E-6"	"01804"	"ATAD3A_000098"	"g.1451433C>G"	""	""	""	"ATAD3A(NM_001170535.1):c.247C>G (p.(Gln83Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990227"	"0"	"50"	"1"	"1453126"	"1453126"	"subst"	"0"	"01804"	"ATAD3A_000099"	"g.1453126C>T"	""	""	""	"ATAD3A(NM_001170535.1):c.415C>T (p.(Gln139*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990228"	"0"	"50"	"1"	"1454337"	"1454337"	"subst"	"1.62503E-5"	"01804"	"ATAD3A_000100"	"g.1454337G>T"	""	""	""	"ATAD3A(NM_001170535.1):c.481G>T (p.(Glu161*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990230"	"0"	"50"	"1"	"1455661"	"1455661"	"subst"	"0"	"01804"	"ATAD3A_000101"	"g.1455661C>T"	""	""	""	"ATAD3A(NM_001170535.1):c.655C>T (p.(Arg219Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990236"	"0"	"30"	"1"	"1458885"	"1458885"	"subst"	"8.3053E-5"	"02325"	"ATAD3A_000102"	"g.1458885C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.907-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990237"	"0"	"50"	"1"	"1459214"	"1459214"	"subst"	"3.65866E-5"	"01804"	"ATAD3A_000103"	"g.1459214G>A"	""	""	""	"ATAD3A(NM_001170535.1):c.964-5G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990238"	"0"	"70"	"1"	"1460622"	"1460622"	"subst"	"0"	"01804"	"ATAD3A_000104"	"g.1460622T>G"	""	""	""	"ATAD3A(NM_001170535.1):c.1217T>G (p.(Leu406Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000990239"	"0"	"30"	"1"	"1460671"	"1460671"	"subst"	"0.000483543"	"02325"	"ATAD3A_000105"	"g.1460671C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.1266C>T (p.T422=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990240"	"0"	"50"	"1"	"1463103"	"1463103"	"subst"	"0"	"01804"	"ATAD3A_000106"	"g.1463103C>G"	""	""	""	"ATAD3A(NM_001170535.1):c.1366C>G (p.(Pro456Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990241"	"0"	"70"	"1"	"1464713"	"1464727"	"del"	"0"	"01804"	"ATAD3A_000107"	"g.1464713_1464727del"	""	""	""	"ATAD3A(NM_001170535.1):c.1614+2_1614+16delTGAGTCAGGCTCCGG (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000990244"	"0"	"90"	"1"	"1470752"	"1470752"	"subst"	"0"	"01804"	"TMEM240_000005"	"g.1470752G>A"	""	""	""	"TMEM240(NM_001114748.1):c.509C>T (p.(Pro170Leu)), TMEM240(NM_001114748.2):c.509C>T (p.P170L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001022377"	"1"	"90"	"1"	"1460640"	"1460640"	"subst"	"0"	"00006"	"ATAD3A_000108"	"g.1460640A>C"	""	"{PMID:Zheng 2024:39423307}"	""	""	"ACMG PS4, PM2, PM6, PP2, PP3, PP4,"	"Germline"	""	""	"0"	""	""	"g.1525260A>C"	""	"pathogenic"	""
"0001024021"	"0"	"50"	"1"	"1460657"	"1460657"	"subst"	"0.000207211"	"02325"	"ATAD3A_000095"	"g.1460657C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.1252C>T (p.(Arg418Trp), p.R418W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031200"	"0"	"50"	"1"	"1451462"	"1451462"	"subst"	"0"	"01804"	"ATAD3A_000109"	"g.1451462G>C"	""	""	""	"ATAD3A(NM_001170535.3):c.276G>C (p.(Lys92Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031221"	"0"	"30"	"1"	"1456007"	"1456007"	"subst"	"0.000268424"	"01804"	"ATAD3A_000083"	"g.1456007C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.750+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001031222"	"0"	"50"	"1"	"1459732"	"1459732"	"subst"	"0"	"02325"	"ATAD3A_000110"	"g.1459732C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.1169C>T (p.T390I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031223"	"0"	"50"	"1"	"1459770"	"1459770"	"subst"	"5.7179E-5"	"01804"	"ATAD3A_000111"	"g.1459770C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.1207C>T (p.(Arg403Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031224"	"0"	"50"	"1"	"1463226"	"1463226"	"subst"	"0"	"01804"	"ATAD3A_000112"	"g.1463226G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.1489G>A (p.(Ala497Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031226"	"0"	"50"	"1"	"1464605"	"1464605"	"subst"	"8.09855E-5"	"01804"	"ATAD3A_000090"	"g.1464605G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.1508G>A (p.(Arg503His), p.R503H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031227"	"0"	"50"	"1"	"1464700"	"1464700"	"subst"	"2.96865E-5"	"01804"	"ATAD3A_000113"	"g.1464700G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.1603G>A (p.(Val535Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031229"	"0"	"50"	"1"	"1469361"	"1469361"	"subst"	"0.000179003"	"01804"	"ATAD3A_000114"	"g.1469361G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.1670G>A (p.(Arg557His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031230"	"0"	"50"	"1"	"1469384"	"1469384"	"subst"	"0.000276558"	"01804"	"ATAD3A_000115"	"g.1469384C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.1693C>T (p.(His565Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031231"	"0"	"50"	"1"	"1469388"	"1469388"	"subst"	"0.000199279"	"01804"	"ATAD3A_000116"	"g.1469388A>G"	""	""	""	"ATAD3A(NM_001170535.3):c.1697A>G (p.(Gln566Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031232"	"0"	"50"	"1"	"1469412"	"1469412"	"subst"	"3.66142E-5"	"01804"	"ATAD3A_000117"	"g.1469412C>G"	""	""	""	"ATAD3A(NM_001170535.3):c.1721C>G (p.(Ala574Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001049855"	"0"	"50"	"1"	"1448077"	"1448077"	"subst"	"0"	"01804"	"ATAD3A_000118"	"g.1448077A>T"	""	""	""	"ATAD3A(NM_001170536.3):c.-33+7A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001049856"	"0"	"50"	"1"	"1458925"	"1458925"	"subst"	"0.000404809"	"01804"	"ATAD3A_000040"	"g.1458925C>T"	""	""	""	"ATAD3A(NM_001170535.3):c.941C>T (p.(Ala314Val)), ATAD3A(NM_018188.5):c.1085C>T (p.A362V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001049857"	"0"	"30"	"1"	"1458955"	"1458955"	"subst"	"2.04697E-5"	"01804"	"ATAD3A_000119"	"g.1458955G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.963+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001049858"	"0"	"50"	"1"	"1459244"	"1459244"	"subst"	"1.62516E-5"	"01804"	"ATAD3A_000120"	"g.1459244A>G"	""	""	""	"ATAD3A(NM_001170535.3):c.989A>G (p.(Asp330Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001049859"	"0"	"30"	"1"	"1459774"	"1459774"	"subst"	"4.51533E-5"	"01804"	"ATAD3A_000041"	"g.1459774G>A"	""	""	""	"ATAD3A(NM_001170535.3):c.1211G>A (p.(Arg404His)), ATAD3A(NM_018188.5):c.1355G>A (p.R452H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001049860"	"0"	"50"	"1"	"1470969"	"1470969"	"subst"	"2.80536E-5"	"01804"	"ATAD3A_000121"	"g.1470969C>T"	""	""	""	"TMEM240(NM_001114748.2):c.373G>A (p.(Asp125Asn))"	"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 ATAD3A
## Count = 191
"{{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}}"
"0000169027"	"00003012"	"90"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Arg576Trp)"	"15"
"0000316693"	"00003012"	"30"	"3282"	"0"	"3282"	"0"	"c.*1377C>T"	"r.(=)"	"p.(=)"	""
"0000316694"	"00003012"	"10"	"3222"	"0"	"3222"	"0"	"c.*1317G>A"	"r.(=)"	"p.(=)"	""
"0000320438"	"00003012"	"50"	"19"	"0"	"19"	"0"	"c.19A>G"	"r.(?)"	"p.(Ile7Val)"	""
"0000320439"	"00003012"	"70"	"230"	"0"	"230"	"0"	"c.230T>G"	"r.(?)"	"p.(Leu77Arg)"	""
"0000320440"	"00003012"	"70"	"634"	"0"	"634"	"0"	"c.634C>T"	"r.(?)"	"p.(Gln212Ter)"	""
"0000320443"	"00003012"	"50"	"1777"	"0"	"1777"	"0"	"c.1777G>A"	"r.(?)"	"p.(Glu593Lys)"	""
"0000320444"	"00003012"	"50"	"1783"	"0"	"1783"	"0"	"c.1783G>A"	"r.(?)"	"p.(Gly595Arg)"	""
"0000342481"	"00003012"	"50"	"800"	"0"	"800"	"0"	"c.800G>A"	"r.(?)"	"p.(Arg267His)"	""
"0000346215"	"00003012"	"50"	"3599"	"0"	"3599"	"0"	"c.*1694C>T"	"r.(=)"	"p.(=)"	""
"0000348236"	"00003012"	"90"	"3205"	"0"	"3205"	"0"	"c.*1300G>A"	"r.(=)"	"p.(=)"	""
"0000502940"	"00003012"	"10"	"45"	"0"	"45"	"0"	"c.45C>T"	"r.(?)"	"p.(Gly15=)"	""
"0000502941"	"00003012"	"30"	"87"	"0"	"87"	"0"	"c.87C>A"	"r.(?)"	"p.(Ala29=)"	""
"0000502956"	"00003012"	"30"	"287"	"0"	"287"	"0"	"c.287G>A"	"r.(?)"	"p.(Arg96Gln)"	""
"0000502957"	"00003012"	"30"	"302"	"0"	"302"	"0"	"c.302G>A"	"r.(?)"	"p.(Ser101Asn)"	""
"0000502959"	"00003012"	"30"	"340"	"0"	"340"	"0"	"c.340C>T"	"r.(?)"	"p.(Arg114Cys)"	""
"0000502961"	"00003012"	"30"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Ala128Thr)"	""
"0000502978"	"00003012"	"30"	"592"	"0"	"592"	"0"	"c.592C>T"	"r.(?)"	"p.(Leu198Phe)"	""
"0000502991"	"00003012"	"30"	"715"	"0"	"715"	"0"	"c.715G>A"	"r.(?)"	"p.(Ala239Thr)"	""
"0000502996"	"00003012"	"30"	"874"	"0"	"874"	"0"	"c.874T>C"	"r.(?)"	"p.(Trp292Arg)"	""
"0000502998"	"00003012"	"30"	"895"	"-6"	"895"	"-6"	"c.895-6C>T"	"r.(=)"	"p.(=)"	""
"0000502999"	"00003012"	"50"	"1051"	"-5"	"1051"	"-5"	"c.1051-5G>A"	"r.spl?"	"p.?"	""
"0000503001"	"00003012"	"50"	"1084"	"0"	"1084"	"0"	"c.1084G>A"	"r.(?)"	"p.(Ala362Thr)"	""
"0000503002"	"00003012"	"30"	"1110"	"0"	"1110"	"0"	"c.1110C>T"	"r.(?)"	"p.(Pro370=)"	""
"0000503003"	"00003012"	"30"	"1233"	"8"	"1233"	"8"	"c.1233+8C>T"	"r.(=)"	"p.(=)"	""
"0000503004"	"00003012"	"50"	"1278"	"0"	"1278"	"0"	"c.1278C>T"	"r.(?)"	"p.(Gly426=)"	""
"0000503005"	"00003012"	"30"	"1352"	"0"	"1352"	"0"	"c.1352G>A"	"r.(?)"	"p.(Arg451Gln)"	""
"0000503006"	"00003012"	"10"	"1359"	"-6"	"1359"	"-6"	"c.1359-6T>C"	"r.(=)"	"p.(=)"	""
"0000503008"	"00003012"	"30"	"1491"	"0"	"1491"	"0"	"c.1491G>A"	"r.(?)"	"p.(Leu497=)"	""
"0000503012"	"00003012"	"50"	"1732"	"0"	"1732"	"0"	"c.1732A>G"	"r.(?)"	"p.(Ile578Val)"	""
"0000503014"	"00003012"	"50"	"1847"	"0"	"1847"	"0"	"c.1847A>T"	"r.(?)"	"p.(Lys616Met)"	""
"0000503015"	"00003012"	"30"	"3261"	"0"	"3261"	"0"	"c.*1356G>A"	"r.(=)"	"p.(=)"	""
"0000503017"	"00003012"	"50"	"3325"	"0"	"3325"	"0"	"c.*1420C>T"	"r.(=)"	"p.(=)"	""
"0000503023"	"00003012"	"50"	"3514"	"0"	"3514"	"0"	"c.*1609A>T"	"r.(=)"	"p.(=)"	""
"0000503025"	"00003012"	"30"	"3531"	"0"	"3531"	"0"	"c.*1626G>A"	"r.(=)"	"p.(=)"	""
"0000503026"	"00003012"	"50"	"3556"	"0"	"3556"	"0"	"c.*1651G>A"	"r.(=)"	"p.(=)"	""
"0000503027"	"00003012"	"30"	"3556"	"0"	"3556"	"0"	"c.*1651G>A"	"r.(=)"	"p.(=)"	""
"0000604771"	"00003012"	"50"	"1759"	"-4"	"1759"	"-4"	"c.1759-4C>G"	"r.spl?"	"p.?"	""
"0000620381"	"00003012"	"50"	"1085"	"0"	"1085"	"0"	"c.1085C>T"	"r.(?)"	"p.(Ala362Val)"	""
"0000620382"	"00003012"	"50"	"1355"	"0"	"1355"	"0"	"c.1355G>A"	"r.(?)"	"p.(Arg452His)"	""
"0000638700"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_1358+266{2}"	"r.-126_1358::[NM_001039211.2:r.690_*1628]"	"p.Met1_Gly453::[NP_060658.3:p.Leu231_Ser411]"	""
"0000638701"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_1358+266{2}"	"r.-126_1358::[NM_001039211.2:r.690_*1628]"	"p.Met1_Gly453::[NP_060658.3:p.Leu231_Ser411]"	""
"0000638702"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_1358+266{2}"	"r.-126_1358::[NM_001039211.2:r.690_*1628]"	"p.Met1_Gly453::[NP_060658.3:p.Leu231_Ser411]"	""
"0000638703"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_1358+266{2}"	"r.-126_1358::[NM_001039211.2:r.690_*1628]"	"p.Met1_Gly453::[NP_060658.3:p.Leu231_Ser411]"	""
"0000638704"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_1359-303{2}"	"r.-126_1358::[NM_001039211.2:r.690_*1628]"	"p.Met1_Gly453::[NP_060658.3:p.Leu231_Ser411]"	""
"0000638705"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_658+54{0}"	"[NM_031921.4:r.-101_514]::r.659_*615"	"[NP_060658.3:p.Met1_Ala172]::p.Thr221_Ser634"	""
"0000638706"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_658+54{0}"	"[NM_031921.4:r.-101_514]::r.659_*615"	"[NP_060658.3:p.Met1_Ala172]::p.Thr221_Ser634"	""
"0000638707"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_658+54{0}"	"[NM_031921.4:r.-101_514]::r.659_*615"	"[NP_060658.3:p.Met1_Ala172]::p.Thr221_Ser634"	""
"0000638709"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_588+254{0}"	"[NM_031921.4:r.-101_444]::r.589_*615"	"[NP_060658.3:p.Met1_Gln148]::p.Gln197_Ser634"	""
"0000638710"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_588+96{0}"	"[NM_031921.4:r.-101_444]::r.589_*615"	"[NP_060658.3:p.Met1_Gln148]::p.Gln197_Ser634"	""
"0000638711"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.-126_286{0}"	"[NM_031921.4:r.-101_282]::r.283_*615"	"[NP_060658.3:p.Met1_Lys94]::p.Met95_Ser634"	""
"0000638712"	"00003012"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000653647"	"00003012"	"50"	"748"	"0"	"748"	"0"	"c.748G>A"	"r.(?)"	"p.(Glu250Lys)"	""
"0000653648"	"00003012"	"30"	"790"	"0"	"790"	"0"	"c.790G>T"	"r.(?)"	"p.(Ala264Ser)"	""
"0000653649"	"00003012"	"50"	"961"	"0"	"961"	"0"	"c.961C>A"	"r.(?)"	"p.(Arg321Ser)"	""
"0000675455"	"00003012"	"30"	"234"	"0"	"234"	"0"	"c.234A>G"	"r.(?)"	"p.(Ala78=)"	""
"0000675456"	"00003012"	"50"	"556"	"0"	"556"	"0"	"c.556C>T"	"r.(?)"	"p.(Arg186Trp)"	""
"0000687856"	"00003012"	"50"	"1447"	"0"	"1447"	"0"	"c.1447G>A"	"r.(?)"	"p.(Ala483Thr)"	""
"0000687857"	"00003012"	"50"	"1555"	"0"	"1555"	"0"	"c.1555G>A"	"r.(?)"	"p.(Val519Ile)"	""
"0000687858"	"00003012"	"50"	"1777"	"0"	"1777"	"0"	"c.1777G>A"	"r.(?)"	"p.(Glu593Lys)"	""
"0000716769"	"00003012"	"90"	"1234"	"-2"	"1234"	"-2"	"c.1234-2A>T"	"r.spl?"	"p.?"	""
"0000716770"	"00003012"	"50"	"1540"	"0"	"1540"	"0"	"c.1540C>T"	"r.(?)"	"p.(Arg514Cys)"	""
"0000716771"	"00003012"	"30"	"1865"	"0"	"1865"	"0"	"c.1865C>T"	"r.(?)"	"p.(Ala622Val)"	""
"0000716772"	"00003012"	"30"	"3260"	"0"	"3260"	"0"	"c.*1355C>T"	"r.(=)"	"p.(=)"	""
"0000716773"	"00003012"	"50"	"3325"	"0"	"3325"	"0"	"c.*1420C>T"	"r.(=)"	"p.(=)"	""
"0000716775"	"00003012"	"50"	"3556"	"0"	"3556"	"0"	"c.*1651G>A"	"r.(=)"	"p.(=)"	""
"0000763814"	"00003012"	"70"	"1727"	"0"	"1727"	"0"	"c.1727G>A"	"r.(?)"	"p.(Arg576Gln)"	""
"0000798756"	"00003012"	"50"	"766"	"0"	"766"	"0"	"c.766C>T"	"r.(?)"	"p.(Arg256Cys)"	""
"0000798758"	"00003012"	"30"	"3264"	"0"	"3264"	"0"	"c.*1359C>T"	"r.(=)"	"p.(=)"	""
"0000798759"	"00003012"	"30"	"3468"	"0"	"3468"	"0"	"c.*1563G>A"	"r.(=)"	"p.(=)"	""
"0000848278"	"00025960"	"50"	"295"	"0"	"295"	"0"	"c.295G>A"	"r.(?)"	"p.(Ala99Thr)"	""
"0000848278"	"00003012"	"50"	"439"	"0"	"439"	"0"	"c.439G>A"	"r.(?)"	"p.(Ala147Thr)"	""
"0000848280"	"00025960"	"50"	"732"	"0"	"732"	"0"	"c.732G>C"	"r.(?)"	"p.(Trp244Cys)"	""
"0000848280"	"00003012"	"50"	"876"	"0"	"876"	"0"	"c.876G>C"	"r.(?)"	"p.(Trp292Cys)"	""
"0000848281"	"00025960"	"30"	"1590"	"0"	"1590"	"0"	"c.1590C>A"	"r.(?)"	"p.(Ile530=)"	""
"0000848281"	"00003012"	"30"	"1734"	"0"	"1734"	"0"	"c.1734C>A"	"r.(?)"	"p.(Ile578=)"	""
"0000856948"	"00003012"	"50"	"748"	"0"	"748"	"0"	"c.748G>A"	"r.(?)"	"p.(Glu250Lys)"	""
"0000882748"	"00025960"	"30"	"506"	"0"	"506"	"0"	"c.506T>C"	"r.(?)"	"p.(Met169Thr)"	""
"0000882748"	"00003012"	"30"	"650"	"0"	"650"	"0"	"c.650T>C"	"r.(?)"	"p.(Met217Thr)"	""
"0000882751"	"00003012"	"30"	"3290"	"0"	"3290"	"0"	"c.*1385G>A"	"r.(=)"	"p.(=)"	""
"0000910766"	"00025960"	"10"	"108"	"0"	"108"	"0"	"c.108G>C"	"r.(?)"	"p.(Gly36=)"	""
"0000910766"	"00003012"	"10"	"108"	"0"	"108"	"0"	"c.108G>C"	"r.(?)"	"p.(Gly36=)"	""
"0000910767"	"00025960"	"10"	"206"	"-12"	"206"	"-12"	"c.206-12T>C"	"r.(=)"	"p.(=)"	""
"0000910767"	"00003012"	"10"	"206"	"-12"	"206"	"-12"	"c.206-12T>C"	"r.(=)"	"p.(=)"	""
"0000910769"	"00025960"	"10"	"680"	"12"	"680"	"12"	"c.680+12C>T"	"r.(=)"	"p.(=)"	""
"0000910769"	"00003012"	"10"	"824"	"12"	"824"	"12"	"c.824+12C>T"	"r.(=)"	"p.(=)"	""
"0000910770"	"00025960"	"50"	"814"	"0"	"814"	"0"	"c.814G>A"	"r.(?)"	"p.(Gly272Ser)"	""
"0000910770"	"00003012"	"50"	"958"	"0"	"958"	"0"	"c.958G>A"	"r.(?)"	"p.(Gly320Ser)"	""
"0000910771"	"00025960"	"10"	"906"	"6"	"906"	"6"	"c.906+6A>G"	"r.(=)"	"p.(=)"	""
"0000910771"	"00003012"	"10"	"1050"	"6"	"1050"	"6"	"c.1050+6A>G"	"r.(=)"	"p.(=)"	""
"0000910772"	"00025960"	"30"	"1014"	"0"	"1014"	"0"	"c.1014C>T"	"r.(?)"	"p.(Thr338=)"	""
"0000910772"	"00003012"	"30"	"1158"	"0"	"1158"	"0"	"c.1158C>T"	"r.(?)"	"p.(Thr386=)"	""
"0000910773"	"00025960"	"10"	"1615"	"-17"	"1615"	"-17"	"c.1615-17G>C"	"r.(=)"	"p.(=)"	""
"0000910773"	"00003012"	"10"	"1759"	"-17"	"1759"	"-17"	"c.1759-17G>C"	"r.(=)"	"p.(=)"	""
"0000910774"	"00025960"	"30"	"1810"	"0"	"1810"	"0"	"c.*49C>T"	"r.(=)"	"p.(=)"	""
"0000910774"	"00003012"	"30"	"1954"	"0"	"1954"	"0"	"c.*49C>T"	"r.(=)"	"p.(=)"	""
"0000922940"	"00025960"	"30"	"1650"	"0"	"1650"	"0"	"c.1650C>T"	"r.(?)"	"p.(Thr550=)"	""
"0000922940"	"00003012"	"30"	"1794"	"0"	"1794"	"0"	"c.1794C>T"	"r.(?)"	"p.(Thr598=)"	""
"0000922941"	"00003012"	"50"	"3556"	"0"	"3556"	"0"	"c.*1651G>A"	"r.(=)"	"p.(=)"	""
"0000928003"	"00025960"	"50"	"258"	"0"	"258"	"0"	"c.258G>T"	"r.(?)"	"p.(Gln86His)"	""
"0000928003"	"00003012"	"50"	"258"	"0"	"258"	"0"	"c.258G>T"	"r.(?)"	"p.(Gln86His)"	""
"0000946958"	"00025960"	"30"	"445"	"-14"	"445"	"-14"	"c.445-14C>T"	"r.(=)"	"p.(=)"	""
"0000946958"	"00003012"	"30"	"589"	"-14"	"589"	"-14"	"c.589-14C>T"	"r.(=)"	"p.(=)"	""
"0000946963"	"00025960"	"30"	"750"	"10"	"750"	"10"	"c.750+10C>T"	"r.(=)"	"p.(=)"	""
"0000946963"	"00003012"	"30"	"894"	"10"	"894"	"10"	"c.894+10C>T"	"r.(=)"	"p.(=)"	""
"0000946964"	"00025960"	"30"	"751"	"-17"	"751"	"-17"	"c.751-17C>T"	"r.(=)"	"p.(=)"	""
"0000946964"	"00003012"	"30"	"895"	"-17"	"895"	"-17"	"c.895-17C>T"	"r.(=)"	"p.(=)"	""
"0000946965"	"00025960"	"50"	"770"	"0"	"770"	"0"	"c.770T>C"	"r.(?)"	"p.(Leu257Pro)"	""
"0000946965"	"00003012"	"50"	"914"	"0"	"914"	"0"	"c.914T>C"	"r.(?)"	"p.(Leu305Pro)"	""
"0000946966"	"00025960"	"30"	"1068"	"0"	"1068"	"0"	"c.1068C>T"	"r.(?)"	"p.(Thr356=)"	""
"0000946966"	"00003012"	"30"	"1212"	"0"	"1212"	"0"	"c.1212C>T"	"r.(?)"	"p.(=)"	""
"0000946967"	"00003012"	"30"	"1491"	"0"	"1491"	"0"	"c.1491G>A"	"r.(?)"	"p.(Leu497=)"	""
"0000946970"	"00003012"	"50"	"1777"	"0"	"1777"	"0"	"c.1777G>A"	"r.(?)"	"p.(Glu593Lys)"	""
"0000946971"	"00025960"	"50"	"1703"	"0"	"1705"	"0"	"c.1703_1705del"	"r.(?)"	"p.(Lys568del)"	""
"0000946971"	"00003012"	"50"	"1847"	"0"	"1849"	"0"	"c.1847_1849del"	"r.(?)"	"p.(Lys616del)"	""
"0000946972"	"00003012"	"90"	"3205"	"0"	"3205"	"0"	"c.*1300G>A"	"r.(=)"	"p.(=)"	""
"0000960066"	"00003012"	"50"	"827"	"0"	"827"	"0"	"c.827C>T"	"r.(?)"	"p.(Thr276Met)"	""
"0000960461"	"00025960"	"50"	"481"	"0"	"481"	"0"	"c.481G>A"	"r.(?)"	"p.(Glu161Lys)"	""
"0000960461"	"00003012"	"50"	"625"	"0"	"625"	"0"	"c.625G>A"	"r.(?)"	"p.(Glu209Lys)"	""
"0000960464"	"00025960"	"50"	"1508"	"0"	"1508"	"0"	"c.1508G>A"	"r.(?)"	"p.(Arg503His)"	""
"0000960464"	"00003012"	"50"	"1652"	"0"	"1652"	"0"	"c.1652G>A"	"r.(?)"	"p.(Arg551His)"	""
"0000973274"	"00025960"	"50"	"283"	"-114"	"283"	"-114"	"c.283-114A>G"	"r.(=)"	"p.(=)"	""
"0000973274"	"00003012"	"50"	"313"	"0"	"313"	"0"	"c.313A>G"	"r.(?)"	"p.(Thr105Ala)"	""
"0000973276"	"00025960"	"50"	"422"	"0"	"422"	"0"	"c.422A>G"	"r.(?)"	"p.(Tyr141Cys)"	""
"0000973276"	"00003012"	"50"	"566"	"0"	"566"	"0"	"c.566A>G"	"r.(?)"	"p.(Tyr189Cys)"	""
"0000973282"	"00025960"	"50"	"563"	"0"	"563"	"0"	"c.563G>A"	"r.(?)"	"p.(Arg188Gln)"	""
"0000973282"	"00003012"	"50"	"707"	"0"	"707"	"0"	"c.707G>A"	"r.(?)"	"p.(Arg236Gln)"	""
"0000973283"	"00025960"	"30"	"681"	"-5"	"681"	"-5"	"c.681-5C>T"	"r.spl?"	"p.?"	""
"0000973283"	"00003012"	"30"	"825"	"-5"	"825"	"-5"	"c.825-5C>T"	"r.spl?"	"p.?"	""
"0000973284"	"00025960"	"50"	"1252"	"0"	"1252"	"0"	"c.1252C>T"	"r.(?)"	"p.(Arg418Trp)"	""
"0000973284"	"00003012"	"50"	"1396"	"0"	"1396"	"0"	"c.1396C>T"	"r.(?)"	"p.(Arg466Trp)"	""
"0000973285"	"00025960"	"50"	"1591"	"0"	"1591"	"0"	"c.1591G>A"	"r.(?)"	"p.(Ala531Thr)"	""
"0000973285"	"00003012"	"50"	"1735"	"0"	"1735"	"0"	"c.1735G>A"	"r.(?)"	"p.(Ala579Thr)"	""
"0000990223"	"00003012"	"30"	"19"	"0"	"19"	"0"	"c.19A>G"	"r.(?)"	"p.(Ile7Val)"	""
"0000990225"	"00025960"	"70"	"229"	"0"	"229"	"0"	"c.229C>G"	"r.(?)"	"p.(Leu77Val)"	""
"0000990225"	"00003012"	"70"	"229"	"0"	"229"	"0"	"c.229C>G"	"r.(?)"	"p.(Leu77Val)"	""
"0000990226"	"00025960"	"30"	"247"	"0"	"247"	"0"	"c.247C>G"	"r.(?)"	"p.(Gln83Glu)"	""
"0000990226"	"00003012"	"30"	"247"	"0"	"247"	"0"	"c.247C>G"	"r.(?)"	"p.(Gln83Glu)"	""
"0000990227"	"00025960"	"50"	"415"	"0"	"415"	"0"	"c.415C>T"	"r.(?)"	"p.(Gln139*)"	""
"0000990227"	"00003012"	"50"	"559"	"0"	"559"	"0"	"c.559C>T"	"r.(?)"	"p.(Gln187*)"	""
"0000990228"	"00025960"	"50"	"481"	"0"	"481"	"0"	"c.481G>T"	"r.(?)"	"p.(Glu161*)"	""
"0000990228"	"00003012"	"50"	"625"	"0"	"625"	"0"	"c.625G>T"	"r.(?)"	"p.(Glu209*)"	""
"0000990230"	"00025960"	"50"	"655"	"0"	"655"	"0"	"c.655C>T"	"r.(?)"	"p.(Arg219Cys)"	""
"0000990230"	"00003012"	"50"	"799"	"0"	"799"	"0"	"c.799C>T"	"r.(?)"	"p.(Arg267Cys)"	""
"0000990236"	"00025960"	"30"	"907"	"-6"	"907"	"-6"	"c.907-6C>T"	"r.(=)"	"p.(=)"	""
"0000990236"	"00003012"	"30"	"1051"	"-6"	"1051"	"-6"	"c.1051-6C>T"	"r.(=)"	"p.(=)"	""
"0000990237"	"00025960"	"50"	"964"	"-5"	"964"	"-5"	"c.964-5G>A"	"r.spl?"	"p.?"	""
"0000990237"	"00003012"	"50"	"1108"	"-5"	"1108"	"-5"	"c.1108-5G>A"	"r.spl?"	"p.?"	""
"0000990238"	"00025960"	"70"	"1217"	"0"	"1217"	"0"	"c.1217T>G"	"r.(?)"	"p.(Leu406Arg)"	""
"0000990238"	"00003012"	"70"	"1361"	"0"	"1361"	"0"	"c.1361T>G"	"r.(?)"	"p.(Leu454Arg)"	""
"0000990239"	"00025960"	"30"	"1266"	"0"	"1266"	"0"	"c.1266C>T"	"r.(?)"	"p.(Thr422=)"	""
"0000990239"	"00003012"	"30"	"1410"	"0"	"1410"	"0"	"c.1410C>T"	"r.(?)"	"p.(=)"	""
"0000990240"	"00025960"	"50"	"1366"	"0"	"1366"	"0"	"c.1366C>G"	"r.(?)"	"p.(Pro456Ala)"	""
"0000990240"	"00003012"	"50"	"1510"	"0"	"1510"	"0"	"c.1510C>G"	"r.(?)"	"p.(Pro504Ala)"	""
"0000990241"	"00025960"	"70"	"1614"	"2"	"1614"	"16"	"c.1614+2_1614+16del"	"r.spl?"	"p.?"	""
"0000990241"	"00003012"	"70"	"1758"	"2"	"1758"	"16"	"c.1758+2_1758+16del"	"r.spl?"	"p.?"	""
"0000990244"	"00003012"	"90"	"3205"	"0"	"3205"	"0"	"c.*1300G>A"	"r.(=)"	"p.(=)"	""
"0001022377"	"00025960"	"90"	"1235"	"0"	"1235"	"0"	"c.1235A>C"	"r.(?)"	"p.(Glu412Ala)"	""
"0001024021"	"00025960"	"50"	"1252"	"0"	"1252"	"0"	"c.1252C>T"	"r.(?)"	"p.(Arg418Trp)"	""
"0001024021"	"00003012"	"50"	"1396"	"0"	"1396"	"0"	"c.1396C>T"	"r.(?)"	"p.(Arg466Trp)"	""
"0001031200"	"00025960"	"50"	"276"	"0"	"276"	"0"	"c.276G>C"	"r.(?)"	"p.(Lys92Asn)"	""
"0001031200"	"00003012"	"50"	"276"	"0"	"276"	"0"	"c.276G>C"	"r.(?)"	"p.(Lys92Asn)"	""
"0001031221"	"00025960"	"30"	"750"	"10"	"750"	"10"	"c.750+10C>T"	"r.(=)"	"p.(=)"	""
"0001031221"	"00003012"	"30"	"894"	"10"	"894"	"10"	"c.894+10C>T"	"r.(=)"	"p.(=)"	""
"0001031222"	"00025960"	"50"	"1169"	"0"	"1169"	"0"	"c.1169C>T"	"r.(?)"	"p.(Thr390Ile)"	""
"0001031222"	"00003012"	"50"	"1313"	"0"	"1313"	"0"	"c.1313C>T"	"r.(?)"	"p.(Thr438Ile)"	""
"0001031223"	"00025960"	"50"	"1207"	"0"	"1207"	"0"	"c.1207C>T"	"r.(?)"	"p.(Arg403Trp)"	""
"0001031223"	"00003012"	"50"	"1351"	"0"	"1351"	"0"	"c.1351C>T"	"r.(?)"	"p.(Arg451Trp)"	""
"0001031224"	"00025960"	"50"	"1489"	"0"	"1489"	"0"	"c.1489G>A"	"r.(?)"	"p.(Ala497Thr)"	""
"0001031224"	"00003012"	"50"	"1633"	"0"	"1633"	"0"	"c.1633G>A"	"r.(?)"	"p.(Ala545Thr)"	""
"0001031226"	"00025960"	"50"	"1508"	"0"	"1508"	"0"	"c.1508G>A"	"r.(?)"	"p.(Arg503His)"	""
"0001031226"	"00003012"	"50"	"1652"	"0"	"1652"	"0"	"c.1652G>A"	"r.(?)"	"p.(Arg551His)"	""
"0001031227"	"00025960"	"50"	"1603"	"0"	"1603"	"0"	"c.1603G>A"	"r.(?)"	"p.(Val535Met)"	""
"0001031227"	"00003012"	"50"	"1747"	"0"	"1747"	"0"	"c.1747G>A"	"r.(?)"	"p.(Val583Met)"	""
"0001031229"	"00025960"	"50"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557His)"	""
"0001031229"	"00003012"	"50"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	""
"0001031230"	"00025960"	"50"	"1693"	"0"	"1693"	"0"	"c.1693C>T"	"r.(?)"	"p.(His565Tyr)"	""
"0001031230"	"00003012"	"50"	"1837"	"0"	"1837"	"0"	"c.1837C>T"	"r.(?)"	"p.(His613Tyr)"	""
"0001031231"	"00025960"	"50"	"1697"	"0"	"1697"	"0"	"c.1697A>G"	"r.(?)"	"p.(Gln566Arg)"	""
"0001031231"	"00003012"	"50"	"1841"	"0"	"1841"	"0"	"c.1841A>G"	"r.(?)"	"p.(Gln614Arg)"	""
"0001031232"	"00025960"	"50"	"1721"	"0"	"1721"	"0"	"c.1721C>G"	"r.(?)"	"p.(Ala574Gly)"	""
"0001031232"	"00003012"	"50"	"1865"	"0"	"1865"	"0"	"c.1865C>G"	"r.(?)"	"p.(Ala622Gly)"	""
"0001049855"	"00025960"	"50"	"205"	"224"	"205"	"224"	"c.205+224A>T"	"r.(=)"	"p.(=)"	""
"0001049855"	"00003012"	"50"	"205"	"224"	"205"	"224"	"c.205+224A>T"	"r.(=)"	"p.(=)"	""
"0001049856"	"00003012"	"50"	"1085"	"0"	"1085"	"0"	"c.1085C>T"	"r.(?)"	"p.(Ala362Val)"	""
"0001049857"	"00025960"	"30"	"963"	"8"	"963"	"8"	"c.963+8G>A"	"r.(=)"	"p.(=)"	""
"0001049857"	"00003012"	"30"	"1107"	"8"	"1107"	"8"	"c.1107+8G>A"	"r.(=)"	"p.(=)"	""
"0001049858"	"00025960"	"50"	"989"	"0"	"989"	"0"	"c.989A>G"	"r.(?)"	"p.(Asp330Gly)"	""
"0001049858"	"00003012"	"50"	"1133"	"0"	"1133"	"0"	"c.1133A>G"	"r.(?)"	"p.(Asp378Gly)"	""
"0001049859"	"00003012"	"30"	"1355"	"0"	"1355"	"0"	"c.1355G>A"	"r.(?)"	"p.(Arg452His)"	""
"0001049860"	"00003012"	"50"	"3422"	"0"	"3422"	"0"	"c.*1517C>T"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 16
"{{screeningid}}"	"{{variantid}}"
"0000104347"	"0000169027"
"0000282952"	"0000638700"
"0000282953"	"0000638701"
"0000282954"	"0000638702"
"0000282955"	"0000638704"
"0000282956"	"0000638703"
"0000282957"	"0000638706"
"0000282958"	"0000638705"
"0000282959"	"0000638709"
"0000282960"	"0000638710"
"0000282961"	"0000638707"
"0000282961"	"0000638711"
"0000282962"	"0000638712"
"0000363248"	"0000763814"
"0000449632"	"0000960066"
"0000462790"	"0001022377"