### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACOX1) # 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}}" "ACOX1" "acyl-CoA oxidase 1, palmitoyl" "17" "q25.1" "unknown" "NG_008190.1" "UD_132118587098" "" "https://www.LOVD.nl/ACOX1" "" "1" "119" "51" "609751" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ACOX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-07 15:26:44" "00000" "2026-01-20 18:57:21" ## 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}}" "00025966" "ACOX1" "transcript variant 1" "001" "NM_004035.6" "" "NP_004026.2" "" "" "" "-361" "7224" "1983" "73975515" "73937588" "00006" "2025-01-07 15:25:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02032" "peroxisomal acyl-CoA" "peroxisomal acyl-CoA oxidase deficiency" "Di" "264470" "" "12/13 hypotonia (HP:0001252 ), 10/11 seizures (HP:0001250, 3/8 failure to thrive (HP:0001508), 7/9 2m-visual system failure (nystagmus, strabismus, failure to fixate objects, 3/8 impaired vision (HP:0000505), 10/13 hearing impairment (HP:0000365), 10/12 loss of motor achievements (HP:0033044), 5/10 hepatomegaly (HP:0002240), 5/10 external dysmorphia, 12/12 white matter abnormalities (HP:0002500), retinal pigmentary changes (HP:0007703)/retinal degeneration (HP:0000546), osteopenia (HP:0000938), 28m-mean age of regression(range 4-42m), 5y-mean age of death (range 4-10y)" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-15 11:04:25" "02143" "ALD" "adrenoleukodystrophy (ALD)" "XLR" "300100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07145" "MITCH" "Mitchell syndrome" "AD" "618960" "" "" "" "00006" "2025-01-07 15:29:40" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ACOX1" "00139" "ACOX1" "02032" "ACOX1" "07145" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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}}" "00459525" "" "" "" "2" "" "03544" "" "family, affected son/father" "M" "-" "- (not applicable)" "" "0" "" "" "white" "" "00459974" "" "" "" "1" "" "00006" "{PMID:Poll-The 1988:2894756}, {PMID:Fournier 1994:8040306}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "yes" "France" "" "0" "" "" "" "FamPat1/2" "00459975" "" "" "" "2" "" "00006" "{PMID:Suzuki 2002:11815777}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Japan" "" "0" "" "" "" "FamPat1" "00459976" "" "" "00459975" "1" "" "00006" "{PMID:Suzuki 2002:11815777}" "sister" "F" "yes" "Japan" "04y" "0" "" "" "" "FamPat2" "00459977" "" "" "" "1" "" "00006" "{PMID:Suzuki 2002:11815777}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Japan" "03y06m" "0" "" "" "" "Pat3" "00459978" "" "" "" "1" "" "00006" "{PMID:Rosewich 2006:16773508}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "" "patient" "00459979" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459980" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459981" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459982" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459983" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459984" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459985" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459986" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459987" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459988" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459989" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459990" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459991" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459992" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459993" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459994" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459995" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459996" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459997" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459998" "" "" "" "1" "" "00006" "{PMID:Ferdinandusse 2007:17458872}" "" "" "" "" "" "0" "" "" "" "patient" "00459999" "" "" "" "1" "" "00006" "{PMID:Carrozzo 2008:18536048}" "2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents" "M" "yes" "Italy" "" "0" "" "" "" "Pat1" "00460000" "" "" "" "1" "" "00006" "{PMID:Carrozzo 2008:18536048}" "2-generation family, 1 affected, unaffected parents" "M" "" "Italy" "" "0" "" "" "" "patient" "00460001" "" "" "" "1" "" "00006" "{PMID:Chung 2020:32169171}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "United States" "19y" "0" "" "" "" "Pat1" "00460002" "" "" "" "1" "" "00006" "{PMID:Chung 2020:32169171}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "Pat2" "00460003" "" "" "" "1" "" "00006" "{PMID:Chung 2020:32169171}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "Pat3" "00460004" "" "" "" "1" "" "00006" "{PMID:Masson 2016:26965209}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "patient" "00460005" "" "" "" "2" "" "00006" "{PMID:Morita 2021:33234382}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "no" "Japan" "" "0" "" "" "" "patient" "00460006" "" "" "00460005" "1" "" "00006" "{PMID:Morita 2021:33234382}" "brother" "M" "no" "Japan" "" "0" "" "" "" "FamPat2" "00460007" "" "" "" "1" "" "00006" "{PMID:Shen 2023:37400800}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00460008" "" "" "" "1" "" "00006" "{PMID:Jafarpour 2022:35715200}" "" "F" "" "United States" "" "0" "" "" "" "patient" "00460009" "" "" "" "1" "" "00006" "Swartwood 2021 acc. to {PMID:Shen 2023:37400800}" "" "" "" "" "" "0" "" "" "" "patient" "00460010" "" "" "" "1" "" "00006" "{PMID:Thiels 2024:37846133}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Germany" "16y" "0" "" "" "" "Pat1" "00460011" "" "" "" "1" "" "00006" "{PMID:Thiels 2024:37846133}" "" "M" "" "Germany" "08y" "0" "" "" "" "Pat2" "00460013" "" "" "" "1" "" "00006" "{PMID:Gong 2024:38923010}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "China" "" "0" "" "" "Han" "Pat1" "00460014" "" "" "" "1" "" "00006" "{PMID:Gong 2024:38923010}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "China" "" "0" "" "" "Han" "Pat2" "00460015" "" "" "" "1" "" "00006" "{PMID:Filippi 2024:38923841}" "2-generation family, 1 affected, unaffected non carrier father" "F" "" "Italy" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 42 "{{individualid}}" "{{diseaseid}}" "00459525" "00198" "00459974" "02143" "00459975" "02032" "00459976" "02032" "00459977" "02032" "00459978" "02032" "00459979" "02032" "00459980" "02032" "00459981" "02032" "00459982" "02032" "00459983" "02032" "00459984" "02032" "00459985" "02032" "00459986" "02032" "00459987" "02032" "00459988" "02032" "00459989" "02032" "00459990" "02032" "00459991" "02032" "00459992" "02032" "00459993" "02032" "00459994" "02032" "00459995" "02032" "00459996" "02032" "00459997" "02032" "00459998" "02032" "00459999" "02032" "00460000" "02032" "00460001" "05384" "00460002" "05384" "00460003" "05384" "00460004" "05611" "00460005" "02032" "00460006" "02032" "00460007" "07145" "00460008" "00198" "00460009" "07145" "00460010" "05611" "00460011" "05611" "00460013" "07145" "00460014" "07145" "00460015" "07145" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02032, 02143, 05384, 05611, 07145 ## Count = 41 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000347602" "00198" "00459525" "03544" "Familial, autosomal dominant" "" "HP:000408, HP:0001251, HP:0002321, HP:0004324, HP:0000771, HP:0031843, HP:0008299, HP:0007006" "" "" "" "" "" "" "" "" "" "MITCH" "complex neurodevelopmental disorder" "" "0000347701" "02143" "00459974" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe hypotonia, intellectual disability, seizures, no dysmorphic features; enlarged hepatic peroxisomes" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficiency" "adrenoleukodystrophy" "" "0000347702" "02032" "00459975" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., 32m-walk, 34m-regression; 11y-deaf, tube feeding" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficiency" "" "" "0000347703" "02032" "00459976" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., 22m-walk with support, speech few words, 26m-regression; 4y-deceased (respiratory problems)" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficiency" "" "" "0000347704" "02032" "00459977" "00006" "Familial, autosomal recessive" "03y06m" "see paper; ..., neonatal mild hypotonia, horizontal nystagmus; 2m-convulsions; 7m-head control, 10m-roll ove, 18m-speech few words, 24m-crawl, not sitting; 28m-regression, severe hypotonia, dysphagia, increased tendon reflexes lower extremities, positive Babinski reflex; 37m-retinal degeneration; no dysmorphic features, no hepatosplenomegaly; 42m-deceased (respiratory failure)" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficiency" "" "" "0000347705" "02032" "00459978" "00006" "Familial, autosomal recessive" "03y06m" "see paper; ..., deceased; 2m-psychomotor retardation, severe axial/peripheral muscular hypotonia, poor feeding; MRI brain pachygyria, perisylvian polymicrogyria, cerebral/ cerebellar white matter abnormalities; facial dysmorphism; progressive psychomotor retardation; deafness; retinopathy; peripheral neuropathy; infantile seizures" "00y02m" "" "psychomotor retardation" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficiency" "peroxisomal disorder" "" "0000347706" "02032" "00459979" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347707" "02032" "00459980" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347708" "02032" "00459981" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347709" "02032" "00459982" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347710" "02032" "00459983" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347711" "02032" "00459984" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347712" "02032" "00459985" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347713" "02032" "00459986" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347714" "02032" "00459987" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347715" "02032" "00459988" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347716" "02032" "00459989" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347717" "02032" "00459990" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347718" "02032" "00459991" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347719" "02032" "00459992" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347720" "02032" "00459993" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347721" "02032" "00459994" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347722" "02032" "00459995" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347723" "02032" "00459996" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347724" "02032" "00459997" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347725" "02032" "00459998" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficienc" "peroxisomal acyl-CoA oxidase deficienc" "" "0000347726" "02032" "00459999" "00006" "Familial, autosomal recessive" "5.4y" "see paper;, birth 33w-cesarean section, weight 2,000g, severe generalized hypotonia; 1m-generalized epileptic seizures; 6m-tonic–clonic seizures, myoclonic jerks with emporary remissions; severely delayed, no postural control; 4y-spastic\r\ntetraplegia, severe intellectual disability, poor\r\nresponse to visua/auditory stimuli" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficiency" "" "" "0000347727" "02032" "00460000" "00006" "Familial, autosomal recessive" "2.6y" "see paper; .., birt at term, weight 3750g, length 54cm, OFC 34cm; neonatal hypotonia, partial seizures; 4m-severe hypotonia, no active posture, decreased tendon reflezes; no craniofacial dysmorphism, psychomotor retardation, no retinopathy/optic atrophy, no white matter demyelination, no impaired hearing; 1y-polymicrogyria;2.6y-walk with support, psychomotor delay, mildly deaf" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficiency" "hypotonia" "" "0000347728" "05384" "00460001" "00006" "Isolated (sporadic)" "12y" "see paper; ..., 19y-deceased; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; normal to decreased cognition; ataxia; chronic axon loss" "12y" "" "" "" "" "" "" "" "" "MITCH" "neuropathy" "" "0000347729" "05384" "00460002" "00006" "Isolated (sporadic)" "15y" "see paper; ..., 15y-coma; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; normal to decreased cognition; ataxia; ongoing and chronic axon loss" "9y" "" "" "" "" "" "" "" "" "MITCH" "neuropathy" "" "0000347730" "05384" "00460003" "00006" "Isolated (sporadic)" "9y" "see paper; ..., 19y-deceased; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; decreased cognition; ataxia; ongoing and chronic axon loss" "3y" "" "" "" "" "" "" "" "" "MITCH" "neuropathy" "" "0000347731" "05611" "00460004" "00006" "Familial, autosomal recessive" "03y09m" "see paper; ..., birth hypotonia; seizures; developmental delay, progressive neurological deterioration; 3y-onset severe seizures; MRI brain 5d-normal, 20d-bilateral hyperintensity deep cerebellar nuclei" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficiency" "hypotonia, seizures" "" "0000347732" "02032" "00460005" "00006" "Familial, autosomal recessive" "10y04m" "see paper; ..., mild language disorder; white matter abnormalities; 6y2m-seizures; dysmorphism; 5y10m regression" "" "" "mild language disorder" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficiency" "" "" "0000347733" "02032" "00460006" "00006" "Familial, autosomal recessive" "8y8m" "see paper; ..., white matter abnormalities; 3m-seizures; dysmorphism; 5y6m regression" "" "" "" "" "" "" "" "" "" "peroxisomal acyl-CoA oxidase deficiency" "" "" "0000347734" "07145" "00460007" "00006" "Isolated (sporadic)" "07y" "see paper; ..., 7y-diffuse desquamatory rash, gait instability, ptosis with photophobia, hearing loss, abdominal pain, diarrhea, nausea, dysuria" "" "" "" "" "" "" "" "" "" "MITCH" "Mitchell syndrome" "" "0000347735" "00198" "00460008" "00006" "Unknown" "20y" "see paper; ..., 14y-sensory ataxia; seizures; hearing loss; keratitis, corneal scarring; ichthyosiform rash; no intellectual disability, progression waxing and waning; MRI brain few scattered T2 hyperintensities in frontal lobes; axonal polyneuropathy" "14y" "" "sensory ataxia" "" "" "" "" "" "" "MITCH" "neurodegenerative encephalomyelopathy" "" "0000347736" "05611" "00460010" "00006" "Isolated (sporadic)" "16y" "see paper; ..., 16y-deceased; 4y-progressive hearing loss; spinal MRI extensive myelitis longitudinal extensive intramedullary T2 lesion entire myelon, centrally located with swelling spinal cord; MRI-brain 5y-normal; polyneuropathy; 9y-subacute ataxia; speech delay; seizures; sensorineural hearing loss; subepithelial clouding, subepithelial chalk deposition, corneal degeneration, amaurosis; dry/scaling skin, ichthyosis; anti-MOG-antibody-associated myelitis" "04y" "" "progressive hearing loss" "" "" "" "" "" "" "MITCH" "progressive hearing loss" "" "0000347737" "05611" "00460011" "00006" "Unknown" "08y" "see paper; ..., 8y-deceased; 3y-recurrent eye problems; MRI brain 5y-normal; polyneuropathy; ataxia; no intellectual disability, no developmental delay; no seizures; sensorineural hearing loss; tinging pain, photophobia, conjunctivitis, follicular hyperkeratosis, optic atrophy, amaurosis; follicular hyperkeratosis; left ventricular dilative cardiomyopathy; neurogenic bladder; intermittently elevated blood lactate" "03y" "" "recurrent eye problems" "" "" "" "" "" "" "MITCH" "recurrent eye problems" "" "0000347738" "07145" "00460013" "00006" "Isolated (sporadic)" "07y" "see paper; ..., diffused erythroderma with whitish fine scales, hyperkeratosis plaques with brown coarse scales, pruritus; no alopecia; hearing loss; reduced visual acuity; ataxia; polyneuropathy; normal to impaired cognition; no gastrointestinal symptoms; no dysuria; normal white matter demyelination" "06y" "" "" "" "" "" "" "" "" "MITCH" "" "" "0000347740" "07145" "00460014" "00006" "Isolated (sporadic)" "04y" "see paper; ..., erythema, hyperkeratosis with gray-to-brown scales, fissures, follicular papules, pruritus; no alopecia; hearing loss; allergic conjunctivitis; ataxia; polyneuropathy; normal to impaired cognition; seizures; no gastrointestinal symptoms; no dysuria" "00y00m40d" "" "" "" "" "" "" "" "" "MITCH" "" "" "0000347741" "07145" "00460015" "00006" "Unknown" "11y" "see paper; ..., ,progressive sensorineural deafness visual abnormalities, skin ichthyosis; infantile age gait ataxia, progressive worsening, 10y-loss of walking" "" "" "" "" "" "" "" "" "" "MITCH" "progressive sensorineural deafness" "" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000461151" "00459525" "1" "03544" "03544" "2025-01-07 06:32:20" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000461604" "00459974" "1" "00006" "00006" "2025-01-14 20:54:07" "" "" "Southern" "DNA" "" "" "0000461605" "00459975" "1" "00006" "00006" "2025-01-14 21:06:02" "" "" "SEQ" "DNA" "" "" "0000461606" "00459976" "1" "00006" "00006" "2025-01-14 21:12:48" "" "" "SEQ" "DNA" "" "" "0000461607" "00459977" "1" "00006" "00006" "2025-01-14 21:19:12" "" "" "SEQ" "DNA" "" "" "0000461608" "00459978" "1" "00006" "00006" "2025-01-15 11:50:00" "" "" "SEQ" "DNA" "" "" "0000461609" "00459979" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000461610" "00459980" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000461611" "00459981" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000461612" "00459982" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000461613" "00459983" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "SEQ" "DNA" "" "" "0000461614" "00459984" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "SEQ" "DNA" "" "" "0000461615" "00459985" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "SEQ" "DNA" "" "" "0000461616" "00459986" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "SEQ" "DNA" "" "" "0000461617" "00459987" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000461618" "00459988" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "SEQ" "DNA" "" "" "0000461619" "00459989" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "SEQ" "DNA" "" "" "0000461620" "00459990" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "SEQ;Southern" "DNA" "" "" "0000461621" "00459991" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "SEQ;Southern" "DNA" "" "" "0000461622" "00459992" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000461623" "00459993" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "SEQ" "DNA" "" "" "0000461624" "00459994" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000461625" "00459995" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "SEQ" "DNA" "" "" "0000461626" "00459996" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000461627" "00459997" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000461628" "00459998" "1" "00006" "00006" "2025-01-15 12:09:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000461629" "00459999" "1" "00006" "00006" "2025-01-15 14:41:46" "" "" "SEQ" "DNA" "" "" "0000461630" "00460000" "1" "00006" "00006" "2025-01-15 15:12:46" "" "" "SEQ" "DNA" "" "" "0000461631" "00460001" "1" "00006" "00006" "2025-01-15 15:54:29" "" "" "SEQ-NG" "DNA" "" "WES" "0000461632" "00460002" "1" "00006" "00006" "2025-01-15 15:54:29" "" "" "SEQ-NG" "DNA" "" "WES" "0000461633" "00460003" "1" "00006" "00006" "2025-01-15 15:54:29" "" "" "SEQ-NG" "DNA" "" "WES" "0000461634" "00460004" "1" "00006" "00006" "2025-01-15 16:01:33" "" "" "SEQ" "DNA" "" "" "0000461635" "00460005" "1" "00006" "00006" "2025-01-15 16:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461636" "00460006" "1" "00006" "00006" "2025-01-15 16:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461637" "00460007" "1" "00006" "00006" "2025-01-15 16:28:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461638" "00460008" "1" "00006" "00006" "2025-01-15 16:37:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461639" "00460009" "1" "00006" "00006" "2025-01-15 16:41:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000461640" "00460010" "1" "00006" "00006" "2025-01-15 16:52:29" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000461641" "00460011" "1" "00006" "00006" "2025-01-15 16:58:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461642" "00460013" "1" "00006" "00006" "2025-01-15 17:07:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461644" "00460014" "1" "00006" "00006" "2025-01-15 17:12:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461645" "00460015" "1" "00006" "00006" "2025-01-15 17:17:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000461604" "ACOX1" "0000461605" "ACOX1" "0000461606" "ACOX1" "0000461607" "ACOX1" "0000461608" "ACOX1" "0000461609" "ACOX1" "0000461610" "ACOX1" "0000461611" "ACOX1" "0000461612" "ACOX1" "0000461613" "ACOX1" "0000461614" "ACOX1" "0000461615" "ACOX1" "0000461616" "ACOX1" "0000461617" "ACOX1" "0000461618" "ACOX1" "0000461619" "ACOX1" "0000461620" "ACOX1" "0000461621" "ACOX1" "0000461622" "ACOX1" "0000461623" "ACOX1" "0000461624" "ACOX1" "0000461625" "ACOX1" "0000461626" "ACOX1" "0000461627" "ACOX1" "0000461628" "ACOX1" "0000461629" "ACOX1" "0000461630" "ACOX1" "0000461634" "ACOX1" ## 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 = 98 "{{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}}" "0000258901" "0" "10" "17" "73949540" "73949540" "subst" "0.653791" "02325" "ACOX1_000003" "g.73949540G>C" "" "" "" "ACOX1(NM_001185039.2):c.822C>G (p.I274M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75953459G>C" "" "benign" "" "0000261787" "0" "50" "17" "73969706" "73969706" "subst" "3.24857E-5" "01943" "ACOX1_000004" "g.73969706C>T" "" "" "" "ACOX1(NM_007292.5):c.430G>A (p.G144R, p.(Gly144Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75973625C>T" "" "VUS" "" "0000261788" "0" "10" "17" "73975075" "73975075" "subst" "0.00315606" "01943" "ACOX1_000006" "g.73975075G>A" "" "" "" "ACOX1(NM_004035.6):c.80C>T (p.P27L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75978994G>A" "" "benign" "" "0000325626" "0" "30" "17" "73945294" "73945294" "subst" "4.062E-6" "01804" "ACOX1_000001" "g.73945294T>C" "" "" "" "ACOX1(NM_001185039.1):c.1614+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949213T>C" "" "likely benign" "" "0000325628" "0" "50" "17" "73969777" "73969777" "subst" "4.06058E-6" "01804" "ACOX1_000005" "g.73969777T>C" "" "" "" "ACOX1(NM_001185039.1):c.155+4838A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75973696T>C" "" "VUS" "" "0000325629" "0" "50" "17" "73996233" "73996233" "subst" "0.000695298" "01804" "TEN1_000001" "g.73996233G>A" "" "" "" "TEN1(NM_001113324.2):c.262G>A (p.(Val88Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76000152G>A" "" "VUS" "" "0000325632" "0" "50" "17" "74003216" "74003216" "subst" "0.000564693" "01804" "EVPL_000001" "g.74003216C>T" "" "" "" "EVPL(NM_001988.2):c.6070G>A (p.(Ala2024Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76007135C>T" "" "VUS" "" "0000325633" "0" "50" "17" "74003525" "74003525" "subst" "0.000255232" "01804" "EVPL_000002" "g.74003525C>T" "" "" "" "EVPL(NM_001988.2):c.5761G>A (p.(Val1921Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76007444C>T" "" "VUS" "" "0000325634" "0" "50" "17" "74004307" "74004307" "subst" "0.000536852" "01804" "EVPL_000003" "g.74004307C>T" "" "" "" "EVPL(NM_001988.2):c.4979G>A (p.(Arg1660Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76008226C>T" "" "VUS" "" "0000325636" "0" "50" "17" "74004600" "74004600" "subst" "0.000570854" "01804" "EVPL_000004" "g.74004600C>A" "" "" "" "EVPL(NM_001988.2):c.4686G>T (p.(Glu1562Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76008519C>A" "" "VUS" "" "0000325638" "0" "50" "17" "74004928" "74004928" "subst" "0.000576861" "01804" "EVPL_000005" "g.74004928G>A" "" "" "" "EVPL(NM_001988.2):c.4358C>T (p.(Pro1453Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76008847G>A" "" "VUS" "" "0000325640" "0" "50" "17" "74005742" "74005742" "subst" "0.000170865" "01804" "EVPL_000006" "g.74005742C>T" "" "" "" "EVPL(NM_001320747.1):c.3610G>A (p.V1204M), EVPL(NM_001988.2):c.3544G>A (p.(Val1182Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76009661C>T" "" "VUS" "" "0000343145" "0" "10" "17" "73944496" "73944496" "subst" "0.00358222" "02327" "ACOX1_000007" "g.73944496G>A" "" "" "" "ACOX1(NM_004035.6):c.1771C>T (p.(Arg591Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75948415G>A" "" "benign" "" "0000563127" "0" "10" "17" "73944473" "73944473" "subst" "0.00152694" "01943" "ACOX1_000008" "g.73944473C>A" "" "" "" "ACOX1(NM_001185039.1):c.1680G>T (p.L560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75948392C>A" "" "benign" "" "0000563128" "0" "30" "17" "73944496" "73944496" "subst" "0.00358222" "01804" "ACOX1_000007" "g.73944496G>A" "" "" "" "ACOX1(NM_004035.6):c.1771C>T (p.(Arg591Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75948415G>A" "" "likely benign" "" "0000563129" "0" "50" "17" "73945294" "73945294" "subst" "4.062E-6" "01943" "ACOX1_000001" "g.73945294T>C" "" "" "" "ACOX1(NM_001185039.1):c.1614+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949213T>C" "" "VUS" "" "0000563131" "0" "10" "17" "73945975" "73945975" "subst" "0.000792644" "01943" "ACOX1_000010" "g.73945975G>A" "" "" "" "ACOX1(NM_001185039.1):c.1188C>T (p.F396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949894G>A" "" "benign" "" "0000563132" "0" "10" "17" "73947649" "73947649" "subst" "0.000833299" "01943" "ACOX1_000011" "g.73947649T>C" "" "" "" "ACOX1(NM_001185039.1):c.840A>G (p.E280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75951568T>C" "" "benign" "" "0000563133" "0" "30" "17" "73949526" "73949526" "subst" "0" "01943" "ACOX1_000012" "g.73949526C>G" "" "" "" "ACOX1(NM_001185039.1):c.830+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75953445C>G" "" "likely benign" "" "0000563134" "0" "50" "17" "74006507" "74006507" "subst" "0.000223515" "01943" "EVPL_000014" "g.74006507G>A" "" "" "" "EVPL(NM_001320747.1):c.2845C>T (p.R949W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76010426G>A" "" "VUS" "" "0000623768" "0" "30" "17" "73956445" "73956445" "subst" "2.4422E-5" "01943" "ACOX1_000014" "g.73956445C>T" "" "" "" "ACOX1(NM_001185039.1):c.167G>A (p.R56Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75960364C>T" "" "likely benign" "" "0000681027" "0" "30" "17" "73974748" "73974748" "subst" "0" "01804" "ACOX1_000015" "g.73974748A>T" "" "" "" "ACOX1(NM_001185039.1):c.22T>A (p.(Phe8Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75978667A>T" "" "likely benign" "" "0000681028" "0" "30" "17" "74005742" "74005742" "subst" "0.000170865" "01943" "EVPL_000006" "g.74005742C>T" "" "" "" "EVPL(NM_001320747.1):c.3610G>A (p.V1204M), EVPL(NM_001988.2):c.3544G>A (p.(Val1182Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808261" "0" "30" "17" "73951699" "73951699" "subst" "0.000198972" "01943" "ACOX1_000016" "g.73951699T>C" "" "" "" "ACOX1(NM_001185039.1):c.608A>G (p.K203R), ACOX1(NM_004035.6):c.722A>G (p.(Lys241Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75955618T>C" "" "likely benign" "" "0000808262" "0" "30" "17" "74003273" "74003273" "subst" "8.87543E-5" "01943" "EVPL_000015" "g.74003273G>A" "" "" "" "EVPL(NM_001320747.1):c.6079C>T (p.L2027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808263" "0" "50" "17" "74004428" "74004428" "subst" "8.95568E-5" "01943" "EVPL_000016" "g.74004428G>A" "" "" "" "EVPL(NM_001320747.1):c.4924C>T (p.L1642F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855107" "0" "30" "17" "73945909" "73945909" "subst" "0.00169789" "01943" "ACOX1_000020" "g.73945909G>A" "" "" "" "ACOX1(NM_001185039.1):c.1254C>T (p.N418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949828G>A" "" "likely benign" "" "0000855108" "0" "30" "17" "73956387" "73956387" "subst" "5.68759E-5" "01943" "ACOX1_000022" "g.73956387G>A" "" "" "" "ACOX1(NM_001185039.1):c.225C>T (p.H75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75960306G>A" "" "likely benign" "" "0000865500" "0" "50" "17" "73944442" "73944442" "subst" "0" "02325" "ACOX1_000019" "g.73944442C>A" "" "" "" "ACOX1(NM_004035.7):c.1825G>T (p.A609S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75948361C>A" "" "VUS" "" "0000865501" "0" "50" "17" "73949532" "73949532" "subst" "0" "01943" "ACOX1_000021" "g.73949532C>T" "" "" "" "ACOX1(NM_001185039.1):c.830G>A (p.G277D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75953451C>T" "" "VUS" "" "0000894287" "0" "50" "17" "73953581" "73953581" "subst" "0.000324855" "02325" "ACOX1_000023" "g.73953581T>C" "" "" "" "ACOX1(NM_004035.7):c.497A>G (p.N166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75957500T>C" "" "VUS" "" "0000926641" "0" "50" "17" "73949688" "73949688" "subst" "8.93394E-5" "02325" "ACOX1_000024" "g.73949688C>G" "" "" "" "ACOX1(NM_004035.7):c.788G>C (p.G263A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75953607C>G" "" "VUS" "" "0000969233" "0" "50" "17" "73945620" "73945620" "subst" "0" "02325" "ACOX1_000025" "g.73945620C>T" "" "" "" "ACOX1(NM_004035.7):c.1540G>A (p.V514I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949539C>T" "" "VUS" "" "0001003672" "0" "30" "17" "73945315" "73945315" "subst" "1.62448E-5" "01804" "ACOX1_000026" "g.73945315C>A" "" "" "" "ACOX1(NM_004035.6):c.1711G>T (p.(Ala571Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949234C>A" "" "likely benign" "" "0001003673" "0" "50" "17" "73945628" "73945628" "subst" "0" "01804" "ACOX1_000027" "g.73945628C>T" "" "" "" "ACOX1(NM_004035.6):c.1532G>A (p.(Ser511Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75949547C>T" "" "VUS" "" "0001003674" "0" "50" "17" "73946885" "73946885" "subst" "0" "01804" "ACOX1_000028" "g.73946885T>C" "" "" "" "ACOX1(NM_004035.6):c.1268A>G (p.(Glu423Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75950804T>C" "" "VUS" "" "0001003675" "0" "50" "17" "73946976" "73946976" "subst" "1.2186E-5" "01804" "ACOX1_000029" "g.73946976G>A" "" "" "" "ACOX1(NM_004035.6):c.1177C>T (p.(Arg393Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75950895G>A" "" "VUS" "" "0001003676" "0" "50" "17" "73951684" "73951684" "subst" "8.12143E-6" "01804" "ACOX1_000013" "g.73951684C>T" "" "" "" "ACOX1(NM_004035.6):c.737G>A (p.(Arg246His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75955603C>T" "" "VUS" "" "0001003677" "0" "50" "17" "73951699" "73951699" "subst" "0.000198972" "01804" "ACOX1_000016" "g.73951699T>C" "" "" "" "ACOX1(NM_001185039.1):c.608A>G (p.K203R), ACOX1(NM_004035.6):c.722A>G (p.(Lys241Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75955618T>C" "" "VUS" "" "0001003678" "0" "50" "17" "73969706" "73969706" "subst" "3.24857E-5" "01804" "ACOX1_000004" "g.73969706C>T" "" "" "" "ACOX1(NM_007292.5):c.430G>A (p.G144R, p.(Gly144Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75973625C>T" "" "VUS" "" "0001003681" "0" "50" "17" "74005973" "74005973" "subst" "0.000199142" "01804" "EVPL_000017" "g.74005973G>A" "" "" "" "EVPL(NM_001988.2):c.3313C>T (p.(Arg1105Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015615" "0" "50" "17" "73951993" "73951993" "subst" "0.000288358" "02325" "ACOX1_000017" "g.73951993G>T" "" "" "" "ACOX1(NM_004035.7):c.574C>A (p.Q192K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75955912G>T" "" "VUS" "" "0001015616" "0" "50" "17" "73975121" "73975121" "subst" "0" "02325" "ACOX1_000018" "g.73975121C>G" "" "" "" "ACOX1(NM_004035.7):c.34G>C (p.A12P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75979040C>G" "" "VUS" "" "0001020261" "11" "70" "17" "73951711" "73951711" "subst" "0" "03544" "ACOX1_000031" "g.73951711T>C" "" "" "" "" "inherited from affected father with similar phenotype" "Germline" "yes" "rs1567876984" "0" "" "" "g.75955630T>C" "{CV:584427}" "pathogenic" "ACMG" "0001020921" "3" "90" "17" "73937588" "73956457" "del" "0" "00006" "ACOX1_000032" "g.(?_73937588)_(73956457_73974614)del" "" "{PMID:Fournier 1994:8040306}" "" "del ex2-14" "" "Germline" "yes" "" "0" "" "" "g.(?_75941507)_(75960376_75978533)del" "" "pathogenic (recessive)" "" "0001020922" "3" "90" "17" "73949644" "73949644" "subst" "0" "00006" "ACOX1_000033" "g.73949644T>C" "" "{PMID:Suzuki 2002:11815777}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75953563T>C" "" "pathogenic (recessive)" "" "0001020923" "3" "90" "17" "73949644" "73949644" "subst" "0" "00006" "ACOX1_000033" "g.73949644T>C" "" "{PMID:Suzuki 2002:11815777}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75953563T>C" "" "pathogenic (recessive)" "" "0001020924" "3" "90" "17" "73953546" "73953546" "subst" "0" "00006" "ACOX1_000034" "g.73953546C>A" "" "{PMID:Suzuki 2002:11815777}" "" "" "" "Germline" "" "" "0" "" "" "g.75957465C>A" "" "pathogenic (recessive)" "" "0001020925" "3" "90" "17" "73953648" "73953648" "subst" "0" "00006" "ACOX1_000035" "g.73953648C>T" "" "{PMID:Rosewich 2006:16773508}" "" "VS3-1G>A" "" "Germline" "" "" "0" "" "" "g.75957567C>T" "" "pathogenic (recessive)" "" "0001020926" "1" "70" "17" "73952016" "73952016" "subst" "4.06177E-6" "00006" "ACOX1_000051" "g.73952016G>A" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75955935G>A" "" "likely pathogenic (recessive)" "" "0001020927" "1" "90" "17" "73951729" "73951729" "subst" "0" "00006" "ACOX1_000037" "g.73951729C>A" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75955648C>A" "" "pathogenic (recessive)" "" "0001020928" "3" "90" "17" "73949550" "73949550" "subst" "0" "00006" "ACOX1_000049" "g.73949550T>C" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "increased SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75953469T>C" "" "pathogenic (recessive)" "" "0001020929" "3" "90" "17" "73949548" "73949548" "subst" "4.06217E-6" "00006" "ACOX1_000048" "g.73949548A>G" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "increased SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75953467A>G" "" "pathogenic (recessive)" "" "0001020930" "3" "90" "17" "73953636" "73953636" "subst" "0" "00006" "ACOX1_000053" "g.73953636G>A" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75957555G>A" "" "pathogenic (recessive)" "" "0001020931" "3" "90" "17" "73953636" "73953636" "subst" "0" "00006" "ACOX1_000053" "g.73953636G>A" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75957555G>A" "" "pathogenic (recessive)" "" "0001020932" "3" "90" "17" "73949572" "73949572" "subst" "8.12301E-6" "00006" "ACOX1_000050" "g.73949572G>A" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75953491G>A" "" "pathogenic (recessive)" "" "0001020933" "3" "90" "17" "73944395" "73944395" "subst" "1.21832E-5" "00006" "ACOX1_000043" "g.73944395A>T" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75948314A>T" "" "pathogenic (recessive)" "" "0001020934" "3" "90" "17" "73974692" "73974694" "del" "0" "00006" "ACOX1_000055" "g.73974692_73974694del" "" "{PMID:Ferdinandusse 2007:17458872}" "" "190_192delGTC" "increased SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75978611_75978613del" "" "pathogenic (recessive)" "" "0001020935" "3" "90" "17" "73974693" "73974693" "del" "0" "00006" "ACOX1_000056" "g.73974693del" "" "{PMID:Ferdinandusse 2007:17458872}" "" "191delT" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75978612del" "" "pathogenic (recessive)" "" "0001020936" "3" "90" "17" "73956340" "73956357" "del" "0" "00006" "ACOX1_000054" "g.73956340_73956357del" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75960259_75960276del" "" "pathogenic (recessive)" "" "0001020937" "3" "90" "17" "73937588" "73956457" "del" "0" "00006" "ACOX1_000032" "g.(?_73937588)_(73956457_73974614)del" "" "{PMID:Ferdinandusse 2007:17458872}" "" "del start from ex3II" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.(?_75941507)_(75960376_75978533)del" "" "pathogenic (recessive)" "" "0001020938" "3" "90" "17" "73937588" "73953648" "del" "0" "00006" "ACOX1_000042" "g.(?_73937588)_(73953648_73956295)del" "" "{PMID:Ferdinandusse 2007:17458872}" "" "del start from ex4" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.(?_75941507)_(75957567_75960214)del" "" "pathogenic (recessive)" "" "0001020939" "3" "90" "17" "73949531" "73949702" "del" "0" "00006" "ACOX1_000047" "g.(73947659_73949531)_(73949702_73951646)del" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.(75951578_75953450)_(75953621_75955565)del" "" "pathogenic (recessive)" "" "0001020940" "3" "90" "17" "73946877" "73946878" "del" "0" "00006" "ACOX1_000046" "g.73946877_73946878del" "" "{PMID:Ferdinandusse 2007:17458872}" "" "1276_1277delGT" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75950796_75950797del" "" "pathogenic (recessive)" "" "0001020941" "3" "90" "17" "73944479" "73944482" "del" "0" "00006" "ACOX1_000044" "g.73944479_73944482del" "" "{PMID:Ferdinandusse 2007:17458872}" "" "1789_1792delACTC" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75948398_75948401del" "" "pathogenic (recessive)" "" "0001020942" "3" "90" "17" "73974717" "73974717" "dup" "0" "00006" "ACOX1_000057" "g.73974717dup" "" "{PMID:Ferdinandusse 2007:17458872}" "" "167_168insG" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75978636dup" "" "pathogenic (recessive)" "" "0001020943" "3" "90" "17" "73953648" "73953648" "subst" "0" "00006" "ACOX1_000035" "g.73953648C>T" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75957567C>T" "" "pathogenic (recessive)" "" "0001020944" "3" "90" "17" "73953539" "73953539" "subst" "4.06081E-6" "00006" "ACOX1_000052" "g.73953539C>T" "" "{PMID:Ferdinandusse 2007:17458872}" "" "r.538_539insATAAGTGAATTTTTCAGCATTTATTGGATGTTTTGAAG" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75957458C>T" "" "pathogenic (recessive)" "" "0001020945" "3" "90" "17" "73946854" "73946870" "dup" "0" "00006" "ACOX1_000045" "g.73946854_73946870dup" "" "{PMID:Ferdinandusse 2007:17458872}" "" "c.1298+3_1298+4insCTCCAGACGGCTAGGTG" "no SCOX expression in fibroblasts" "Germline" "" "" "0" "" "" "g.75950773_75950789dup" "" "pathogenic (recessive)" "" "0001020946" "2" "90" "17" "73944479" "73944482" "del" "0" "00006" "ACOX1_000044" "g.73944479_73944482del" "" "{PMID:Ferdinandusse 2007:17458872}" "" "1789_1792delACTC" "" "Germline" "" "" "0" "" "" "g.75948398_75948401del" "" "pathogenic (recessive)" "" "0001020947" "2" "90" "17" "73944331" "73944539" "" "0" "00006" "ACOX1_000038" "g.(73942877_73944331)_(73944539_73945297)?" "" "{PMID:Ferdinandusse 2007:17458872}" "" "" "no variant detected in DNA" "Germline" "" "" "0" "" "" "g.(75946796_75948250)_(75948458_75949216)?" "" "pathogenic (recessive)" "" "0001020948" "3" "90" "17" "73939294" "73954884" "del" "0" "00006" "ACOX1_000036" "g.73939294_73954884del" "" "{PMID:Carrozzo 2008:18536048}" "" "del ex4-14_" "15.5kb deletion" "Germline" "" "" "0" "" "" "g.75943213_75958803del" "" "pathogenic (recessive)" "" "0001020949" "1" "90" "17" "73951729" "73951729" "subst" "0" "00006" "ACOX1_000037" "g.73951729C>A" "" "{PMID:Carrozzo 2008:18536048}" "" "" "" "Germline" "" "" "0" "" "" "g.75955648C>A" "" "pathogenic (recessive)" "" "0001020950" "2" "90" "17" "73944331" "73944539" "" "0" "00006" "ACOX1_000038" "g.(73942877_73944331)_(73944539_73945297)?" "" "{PMID:Carrozzo 2008:18536048}" "" "del ex13 RNA" "" "Germline" "" "" "0" "" "" "g.(75946796_75948250)_(75948458_75949216)?" "" "pathogenic (recessive)" "" "0001020951" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "{PMID:Chung 2020:32169171}" "" "" "" "De novo" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001020952" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "{PMID:Chung 2020:32169171}" "" "" "" "De novo" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001020953" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "{PMID:Chung 2020:32169171}" "" "" "" "De novo" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001020954" "3" "90" "17" "73945881" "73945881" "del" "0" "00006" "ACOX1_000039" "g.73945881del" "" "{PMID:Masson 2016:26965209}" "" "1396delC" "" "Germline" "" "" "0" "" "" "g.75949800del" "" "pathogenic (recessive)" "" "0001020955" "21" "90" "17" "73974725" "73974725" "del" "0" "00006" "ACOX1_000040" "g.73974725del" "" "" "" "160delC" "" "Germline" "yes" "" "0" "" "" "g.75978644del" "" "pathogenic (recessive)" "" "0001020956" "11" "70" "17" "73946894" "73946894" "subst" "0" "00006" "ACOX1_000041" "g.73946894A>G" "" "{PMID:Morita 2021:33234382}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75950813A>G" "" "VUS" "ACMG" "0001020957" "21" "90" "17" "73974725" "73974725" "del" "0" "00006" "ACOX1_000040" "g.73974725del" "" "" "" "160delC" "" "Germline" "yes" "" "0" "" "" "g.75978644del" "" "pathogenic (recessive)" "" "0001020958" "11" "70" "17" "73946894" "73946894" "subst" "0" "00006" "ACOX1_000041" "g.73946894A>G" "" "{PMID:Morita 2021:33234382}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75950813A>G" "" "VUS" "ACMG" "0001020959" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "{PMID:Shen 2023:37400800}" "" "" "" "De novo" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001020960" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "{PMID:Jafarpour 2022:35715200}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001020961" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "Swartwood 2021 acc. to {PMID:Shen 2023:37400800}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001020962" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "{PMID:Thiels 2024:37846133}" "" "" "" "De novo" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001020963" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "{PMID:Thiels 2024:37846133}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001020964" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "{PMID:Gong 2024:38923010}" "" "" "" "De novo" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001020965" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "{PMID:Gong 2024:38923010}" "" "" "" "De novo" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001020966" "0" "90" "17" "73951711" "73951711" "subst" "0" "00006" "ACOX1_000031" "g.73951711T>C" "" "{PMID:Filippi 2024:38923841}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75955630T>C" "" "pathogenic (dominant)" "" "0001042184" "0" "50" "17" "73953620" "73953620" "subst" "0.000393902" "01804" "TEN1_000002" "g.73953620G>A" "" "" "" "ACOX1(NM_004035.7):c.458C>T (p.(Thr153Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042185" "0" "30" "17" "73987676" "73987676" "subst" "0.000881567" "01804" "CDK3_000003" "g.73987676C>A" "" "" "" "TEN1(NM_001113324.3):c.222C>A (p.(Ile74=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056191" "0" "50" "17" "74005118" "74005118" "subst" "1.6351E-5" "01804" "CDK3_000004" "g.74005118G>A" "" "" "" "EVPL(NM_001988.4):c.4168C>T (p.(Arg1390Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066878" "0" "50" "17" "73945966" "73945966" "subst" "0" "02325" "TEN1_000003" "g.73945966T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066879" "0" "50" "17" "73946966" "73946966" "subst" "0" "02325" "TEN1_000004" "g.73946966C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066880" "0" "50" "17" "73951942" "73951942" "subst" "4.06101E-6" "02325" "TEN1_000005" "g.73951942T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066881" "0" "50" "17" "73956362" "73956362" "subst" "1.62508E-5" "01804" "TEN1_000006" "g.73956362G>A" "" "" "" "ACOX1(NM_004035.7):c.364C>T (p.(Arg122Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066882" "0" "50" "17" "73956440" "73956440" "subst" "2.84919E-5" "02325" "TEN1_000007" "g.73956440G>A" "" "" "" "" "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 ACOX1 ## Count = 98 "{{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}}" "0000258901" "00025966" "10" "936" "0" "936" "0" "c.936C>G" "r.(?)" "p.(Ile312Met)" "" "0000261787" "00025966" "50" "269" "4909" "269" "4909" "c.269+4909G>A" "r.(=)" "p.(=)" "" "0000261788" "00025966" "10" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.(Pro27Leu)" "" "0000325626" "00025966" "30" "1728" "4" "1728" "4" "c.1728+4A>G" "r.spl?" "p.?" "" "0000325628" "00025966" "50" "269" "4838" "269" "4838" "c.269+4838A>G" "r.(=)" "p.(=)" "" "0000325629" "00025966" "50" "-21079" "0" "-21079" "0" "c.-21079C>T" "r.(?)" "p.(=)" "" "0000325632" "00025966" "50" "-28062" "0" "-28062" "0" "c.-28062G>A" "r.(?)" "p.(=)" "" "0000325633" "00025966" "50" "-28371" "0" "-28371" "0" "c.-28371G>A" "r.(?)" "p.(=)" "" "0000325634" "00025966" "50" "-29153" "0" "-29153" "0" "c.-29153G>A" "r.(?)" "p.(=)" "" "0000325636" "00025966" "50" "-29446" "0" "-29446" "0" "c.-29446G>T" "r.(?)" "p.(=)" "" "0000325638" "00025966" "50" "-29774" "0" "-29774" "0" "c.-29774C>T" "r.(?)" "p.(=)" "" "0000325640" "00025966" "50" "-30588" "0" "-30588" "0" "c.-30588G>A" "r.(?)" "p.(=)" "" "0000343145" "00025966" "10" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Arg591Cys)" "" "0000563127" "00025966" "10" "1794" "0" "1794" "0" "c.1794G>T" "r.(?)" "p.(Leu598=)" "" "0000563128" "00025966" "30" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Arg591Cys)" "" "0000563129" "00025966" "50" "1728" "4" "1728" "4" "c.1728+4A>G" "r.spl?" "p.?" "" "0000563131" "00025966" "10" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Phe434=)" "" "0000563132" "00025966" "10" "954" "0" "954" "0" "c.954A>G" "r.(?)" "p.(Glu318=)" "" "0000563133" "00025966" "30" "944" "6" "944" "6" "c.944+6G>C" "r.(=)" "p.(=)" "" "0000563134" "00025966" "50" "-31353" "0" "-31353" "0" "c.-31353C>T" "r.(?)" "p.(=)" "" "0000623768" "00025966" "30" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94Gln)" "" "0000681027" "00025966" "30" "136" "0" "136" "0" "c.136T>A" "r.(?)" "p.(Phe46Ile)" "" "0000681028" "00025966" "30" "-30588" "0" "-30588" "0" "c.-30588G>A" "r.(?)" "p.(=)" "" "0000808261" "00025966" "30" "722" "0" "722" "0" "c.722A>G" "r.(?)" "p.(Lys241Arg)" "" "0000808262" "00025966" "30" "-28119" "0" "-28119" "0" "c.-28119C>T" "r.(?)" "p.(=)" "" "0000808263" "00025966" "50" "-29274" "0" "-29274" "0" "c.-29274C>T" "r.(?)" "p.(=)" "" "0000855107" "00025966" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Asn456=)" "" "0000855108" "00025966" "30" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(His113=)" "" "0000865500" "00025966" "50" "1825" "0" "1825" "0" "c.1825G>T" "r.(?)" "p.(Ala609Ser)" "" "0000865501" "00025966" "50" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Gly315Asp)" "" "0000894287" "00025966" "50" "497" "0" "497" "0" "c.497A>G" "r.(?)" "p.(Asn166Ser)" "" "0000926641" "00025966" "50" "788" "0" "788" "0" "c.788G>C" "r.(?)" "p.(Gly263Ala)" "" "0000969233" "00025966" "50" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Val514Ile)" "" "0001003672" "00025966" "30" "1711" "0" "1711" "0" "c.1711G>T" "r.(?)" "p.(Ala571Ser)" "" "0001003673" "00025966" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Ser511Asn)" "" "0001003674" "00025966" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(Glu423Gly)" "" "0001003675" "00025966" "50" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Arg393Trp)" "" "0001003676" "00025966" "50" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246His)" "" "0001003677" "00025966" "50" "722" "0" "722" "0" "c.722A>G" "r.(?)" "p.(Lys241Arg)" "" "0001003678" "00025966" "50" "269" "4909" "269" "4909" "c.269+4909G>A" "r.(=)" "p.(=)" "" "0001003681" "00025966" "50" "-30819" "0" "-30819" "0" "c.-30819C>T" "r.(?)" "p.(=)" "" "0001015615" "00025966" "50" "574" "0" "574" "0" "c.574C>A" "r.(?)" "p.(Gln192Lys)" "" "0001015616" "00025966" "50" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Ala12Pro)" "" "0001020261" "00025966" "70" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Asn237Ser)" "6" "0001020921" "00025966" "90" "270" "-1" "7224" "0" "c.(269+1_270-1)_(*5241_?)del" "r.?" "p.?" "2i_14_" "0001020922" "00025966" "90" "832" "0" "832" "0" "c.832A>G" "r.(?)" "p.(Met278Val)" "" "0001020923" "00025966" "90" "832" "0" "832" "0" "c.832A>G" "r.(?)" "p.(Met278Val)" "" "0001020924" "00025966" "90" "532" "0" "532" "0" "c.532G>T" "r.(?)" "p.(Gly178Cys)" "" "0001020925" "00025966" "90" "431" "-1" "431" "-1" "c.431-1G>A" "r.spl" "p.?" "3i" "0001020926" "00025966" "70" "551" "0" "551" "0" "c.551C>T" "r.551C>T" "p.(Ser184Leu)" "5" "0001020927" "00025966" "90" "692" "0" "692" "0" "c.692G>T" "r.692G>T" "p.(Gly231Val)" "6" "0001020928" "00025966" "90" "926" "0" "926" "0" "c.926A>G" "r.926A>G" "p.(Gln309Arg)" "7" "0001020929" "00025966" "90" "928" "0" "928" "0" "c.928T>C" "r.928T>C" "p.(Ser310Pro)" "7" "0001020930" "00025966" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Ter)" "4" "0001020931" "00025966" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Ter)" "4" "0001020932" "00025966" "90" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Ter)" "7" "0001020933" "00025966" "90" "1872" "0" "1872" "0" "c.1872T>A" "r.(?)" "p.(Tyr624Ter)" "13" "0001020934" "00025966" "90" "190" "0" "192" "0" "c.190_192del" "r.190_192del" "p.(Val64del)" "2" "0001020935" "00025966" "90" "191" "0" "191" "0" "c.191delT" "r.(?)" "p.(Val64AlafsTer8)" "2" "0001020936" "00025966" "90" "372" "0" "389" "0" "c.372_389del" "r.(?)" "p.(Phe124_Asn129del)" "3" "0001020937" "00025966" "90" "" "0" "" "0" "c.(269+1_270-1)_(*5241_?)del" "r.?" "p.?" "2i_14_" "0001020938" "00025966" "90" "" "0" "" "0" "c.(430+1_431-1)_(*5241_?)del" "r.?" "p.?" "3i_14_" "0001020939" "00025966" "90" "775" "-1" "944" "1" "c.(774+1_775-1)_(944+1_945-1)del" "r.775_944del" "p.Val259Ter" "6i_7i" "0001020940" "00025966" "90" "1276" "0" "1277" "0" "c.1276_1277del" "r.(?)" "p.(Val426HisfsTer7)" "9" "0001020941" "00025966" "90" "1789" "0" "1792" "0" "c.1789_1792del" "r.(1789_1792del)" "p.(Thr597Ter)" "13" "0001020942" "00025966" "90" "167" "0" "167" "0" "c.167dup" "r.(?)" "p.(Ser57GlnfsTer5)" "2" "0001020943" "00025966" "90" "431" "-1" "431" "-1" "c.431-1G>A" "r.431_538del" "p.Gly144_Leu180delinsVal" "3i" "0001020944" "00025966" "90" "538" "1" "538" "1" "c.538+1G>A" "r.538_539ins[A;538+2_539+38]" "p.Leu180HisfsTer3" "4i" "0001020945" "00025966" "90" "1285" "0" "1298" "3" "c.1285_1298+3dup" "r.1298_1299ins[1285_1298+3]" "p.Phe434CysfsTer8" "9i" "0001020946" "00025966" "90" "1789" "0" "1792" "0" "c.1789_1792del" "r.(1789_1792del)" "p.(Thr597Ter)" "13" "0001020947" "00025966" "90" "1729" "-1" "1935" "1" "c.(1728+1_1729-1)_(1935+1_1936-1)?" "r.1729_1935del" "p.Gly577_Glu645del" "12i_13i" "0001020948" "00025966" "90" "431" "-1237" "5518" "0" "c.431-1237_*3535del" "r.?" "p.?" "3i_14" "0001020949" "00025966" "90" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0001020950" "00025966" "90" "1729" "-1" "1935" "1" "c.(1728+1_1729-1)_(1935+1_1936-1)?" "r.1729_1935del" "p.Gly577_Glu645del" "12i_13i" "0001020951" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(710A>G)" "p.(Asn237Ser)" "" "0001020952" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(710A>G)" "p.(Asn237Ser)" "" "0001020953" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(710A>G)" "p.(Asn237Ser)" "" "0001020954" "00025966" "90" "1396" "0" "1396" "0" "c.1396del" "r.(?)" "p.(Gln466Serfs*3)" "" "0001020955" "00025966" "90" "160" "0" "160" "0" "c.160del" "r.(?)" "p.(Leu54Serfs*18)" "" "0001020956" "00025966" "70" "1259" "0" "1259" "0" "c.1259T>C" "r.(?)" "p.(Phe420Ser)" "" "0001020957" "00025966" "90" "160" "0" "160" "0" "c.160del" "r.(?)" "p.(Leu54Serfs*18)" "" "0001020958" "00025966" "70" "1259" "0" "1259" "0" "c.1259T>C" "r.(?)" "p.(Phe420Ser)" "" "0001020959" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Asn237Ser)" "" "0001020960" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Asn237Ser)" "" "0001020961" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Asn237Ser)" "" "0001020962" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Asn237Ser)" "" "0001020963" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Asn237Ser)" "" "0001020964" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Asn237Ser)" "" "0001020965" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Asn237Ser)" "" "0001020966" "00025966" "90" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Asn237Ser)" "" "0001042184" "00025966" "50" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Thr153Ile)" "" "0001042185" "00025966" "30" "-12522" "0" "-12522" "0" "c.-12522G>T" "r.(?)" "p.(=)" "" "0001056191" "00025966" "50" "-29964" "0" "-29964" "0" "c.-29964C>T" "r.(?)" "p.(=)" "" "0001066878" "00025966" "50" "1311" "0" "1311" "0" "c.1311A>C" "r.(?)" "p.(Lys437Asn)" "" "0001066879" "00025966" "50" "1187" "0" "1187" "0" "c.1187G>C" "r.(?)" "p.(Cys396Ser)" "" "0001066880" "00025966" "50" "625" "0" "625" "0" "c.625A>G" "r.(?)" "p.(Ile209Val)" "" "0001066881" "00025966" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0001066882" "00025966" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 47 "{{screeningid}}" "{{variantid}}" "0000461151" "0001020261" "0000461604" "0001020921" "0000461605" "0001020922" "0000461606" "0001020923" "0000461607" "0001020924" "0000461608" "0001020925" "0000461609" "0001020926" "0000461609" "0001020946" "0000461610" "0001020927" "0000461610" "0001020947" "0000461611" "0001020928" "0000461612" "0001020929" "0000461613" "0001020930" "0000461614" "0001020931" "0000461615" "0001020932" "0000461616" "0001020933" "0000461617" "0001020934" "0000461618" "0001020935" "0000461619" "0001020936" "0000461620" "0001020937" "0000461621" "0001020938" "0000461622" "0001020939" "0000461623" "0001020940" "0000461624" "0001020941" "0000461625" "0001020942" "0000461626" "0001020943" "0000461627" "0001020944" "0000461628" "0001020945" "0000461629" "0001020948" "0000461630" "0001020949" "0000461630" "0001020950" "0000461631" "0001020951" "0000461632" "0001020952" "0000461633" "0001020953" "0000461634" "0001020954" "0000461635" "0001020955" "0000461635" "0001020956" "0000461636" "0001020957" "0000461636" "0001020958" "0000461637" "0001020959" "0000461638" "0001020960" "0000461639" "0001020961" "0000461640" "0001020962" "0000461641" "0001020963" "0000461642" "0001020964" "0000461644" "0001020965" "0000461645" "0001020966"