### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COQ4) # 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}}" "COQ4" "coenzyme Q4 homolog (S. cerevisiae)" "9" "q34.2" "unknown" "NC_000009.11" "UD_132610475122" "" "https://www.LOVD.nl/COQ4" "" "1" "19693" "51117" "612898" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/COQ4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-22 19:07:24" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005539" "COQ4" "coenzyme Q4 homolog (S. cerevisiae)" "001" "NM_016035.3" "" "NP_057119.2" "" "" "" "-347" "1225" "798" "131084791" "131096351" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04199" "COQ10D" "coenzyme Q10 deficiency (COQ10D)" "" "" "" "" "" "00006" "2015-02-19 22:33:41" "" "" "04428" "COQ10D7" "coenzyme Q10 deficiency, primary, type 7 (COQ10D-7)" "AR" "616276" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COQ4" "04199" "COQ4" "04428" ## Individuals ## Do not remove or alter this header ## ## Count = 51 "{{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}}" "00032398" "" "" "" "2" "" "00006" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}, {PMID:Laugwitz 2022:34656997}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents" "M" "no" "Italy" "00y00m01d" "0" "" "" "" "Fam1PatII3;Fam18Pat21" "00032399" "" "" "" "1" "" "00006" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}, {PMID:Laugwitz 2022:34656997}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" "00y00m01d" "0" "" "" "" "Fam2PatII1;Fam19Pat22" "00032400" "" "" "" "2" "" "00006" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}, {PMID:Laugwitz 2022:34656997}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Austria" "" "0" "" "" "" "Fam3PatII1;Fam20Pat23" "00032401" "" "" "" "1" "" "00006" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}, {PMID:Laugwitz 2022:34656997}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Italy" ">18y" "0" "" "" "" "Fam4PatII1;Fam21Pat25" "00228188" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00269886" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00303068" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat110" "00403862" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF034" "00416066" "" "" "00032400" "1" "" "00006" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}, {PMID:Laugwitz 2022:34656997}" "sister" "F" "no" "Austria" "00y00m02d" "0" "" "" "" "Fam3PatII3;Fam20Pat24" "00416067" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "F" "yes" "Iraq" "" "0" "" "" "" "Fam1Pat1" "00416068" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "F" "yes" "" "" "0" "" "" "Yemenite" "Fam2Pat2" "00416069" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "F" "yes" "Iran" "" "0" "" "" "" "Fam3Pat3" "00416070" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "F" "no" "Romania" "" "0" "" "" "" "Fam4Pat4" "00416071" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "F" "no" "Albania" "" "0" "" "" "" "Fam5Pat5" "00416072" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Fam6Pat6" "00416073" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "M" "no" "" "" "0" "" "" "white" "Fam7Pat7" "00416074" "" "" "" "2" "" "00006" "{PMID:Laugwitz 2022:34656997}" "family, 2 affected" "F" "no" "Italy" "" "0" "" "" "" "Fam8Pat8" "00416075" "" "" "00416074" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "sib" "F" "no" "Italy" "" "0" "" "" "" "Fam8Pat9" "00416076" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "M" "yes" "" "" "0" "" "" "Assyria;Suryoyo/Dutch" "Fam9Pat10" "00416077" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "F" "yes" "Albania" "" "0" "" "" "Albania;Kosovar" "Fam10Pat11" "00416078" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "F" "yes" "" "" "0" "" "" "Arab" "Fam11Pat12" "00416079" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "M" "" "" "" "0" "" "" "" "Fam12Pat13" "00416080" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "F" "" "" "" "0" "" "" "" "Fam13Pat14" "00416081" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "M" "" "" "" "0" "" "" "" "Fam14Pat15" "00416082" "" "" "" "2" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "F" "yes" "India" "6y" "0" "" "" "Hindu Maharashtrian" "Fam15Pat16" "00416083" "" "" "00416082" "1" "" "00006" "{PMID:Laugwitz 2022:34656997}" "" "M" "yes" "India" "4y" "0" "" "" "Hindu Maharashtrian" "Fam15Pat16b" "00416084" "" "" "" "2" "" "00006" "{PMID:Caglayan 2019: 30847826}, {PMID:Laugwitz 2022:34656997}" "4-generation family, affectd sister/brother" "M" "yes" "Turkey" "" "0" "" "" "" "FamPatIV1;Fam16Pat17" "00416085" "" "" "00416084" "1" "" "00006" "{PMID:Caglayan 2019: 30847826}, {PMID:Laugwitz 2022:34656997}" "brother" "F" "yes" "Turkey" "" "0" "" "" "" "FamPatIV3;Fam16Pat18" "00416086" "" "" "" "2" "" "00006" "{PMID:Bosch 2018:30225196}, {PMID:Laugwitz 2022:34656997}" "4-generation family, affected brother/sister" "M" "yes" "" "" "0" "" "" "" "Pat1;Fam17Pat19" "00416087" "" "" "00416086" "1" "" "00006" "{PMID:Bosch 2018:30225196}, {PMID:Laugwitz 2022:34656997}" "sister" "F" "yes" "" "" "0" "" "" "" "Pat2;Fam17Pat20" "00416088" "" "" "" "2" "" "00006" "{PMID:Chung 2015:26185144}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "" "2m" "0" "" "" "white;Hispanic" "Fam1Pat1;Fam22Pat26" "00416089" "" "" "00416088" "1" "" "00006" "{PMID:Chung 2015:26185144}, {PMID:Laugwitz 2022:34656997}" "sister" "F" "" "" "3d" "0" "" "" "white;Hispanic" "Fam1Pat2;Fam22Pat26b" "00416090" "" "" "" "1" "" "00006" "{PMID:Chung 2015:26185144}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "4d" "0" "" "" "Jew-Ashkenazi" "Fam2;Fam23Pat27" "00416091" "" "" "" "2" "" "00006" "{PMID:Chung 2015:26185144}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "" "19m" "0" "" "" "white" "Fam3Pat1;Fam24Pat28" "00416092" "" "" "00416091" "1" "" "00006" "{PMID:Chung 2015:26185144}, {PMID:Laugwitz 2022:34656997}" "sister" "F" "" "" "70d" "0" "" "" "white" "Fam3Pat2;Fam24Pat29" "00416093" "" "" "" "1" "" "00006" "{PMID:Chung 2015:26185144}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "" "49d" "0" "" "" "Jew-Ashkenazi" "Fam4;Fam25Pat30" "00416094" "" "" "" "1" "" "00006" "{PMID:Sondheimer 2017:28540186}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "4m" "0" "" "" "" "Pat;Fam26Pat31" "00416095" "" "" "" "1" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "8m" "0" "" "" "" "Pat1;Fam27Pat32" "00416096" "" "" "" "1" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "2d" "0" "" "" "" "Pat2;Fam28Pat33" "00416097" "" "" "" "1" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Pat3;Fam29Pat34" "00416098" "" "" "" "2" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Pat4;Fam30Pat35" "00416099" "" "" "00416098" "1" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "sister" "F" "" "China" "1y" "0" "" "" "" "Pat5;Fam30Pat36" "00416100" "" "" "" "1" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Pat6;Fam31Pat37" "00416101" "" "" "" "1" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "3y6m" "0" "" "" "" "Pat7;Fam32Pat38" "00416102" "" "" "" "1" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Pat8;Fam33Pat39" "00416103" "" "" "" "1" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Pat9;Fam34Pat40" "00416104" "" "" "" "2" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "2 generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Pat10;Fam35Pat41" "00416105" "" "" "00416104" "1" "" "00006" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "sister" "F" "" "China" "20m" "0" "" "" "" "Pat11;Fam35Pat42" "00416106" "" "" "" "2" "" "00006" "{PMID:Lu 2019:30659264}, {PMID:Laugwitz 2022:34656997}" "2-generation family, affected brother/sister" "M" "" "China" "5m" "0" "" "" "" "FamPatII1;Fam36Pat43" "00416107" "" "" "00416106" "1" "" "00006" "{PMID:Lu 2019:30659264}, {PMID:Laugwitz 2022:34656997}" "sister" "F" "" "China" "" "0" "" "" "" "FamPatII2;Fam36Pat44" "00424945" "" "" "" "1" "" "00006" "{PMID:Jurkute 2022:36266294}" "2-generation family, 1 affected, unaffected parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 51 "{{individualid}}" "{{diseaseid}}" "00032398" "04199" "00032399" "04199" "00032400" "04199" "00032401" "04199" "00228188" "00198" "00269886" "00198" "00303068" "05521" "00403862" "05611" "00416066" "04199" "00416067" "04199" "00416068" "04199" "00416069" "04199" "00416070" "04199" "00416071" "04199" "00416072" "04199" "00416073" "04199" "00416074" "04199" "00416075" "04199" "00416076" "04199" "00416077" "04199" "00416078" "04199" "00416079" "04199" "00416080" "04199" "00416081" "04199" "00416082" "04199" "00416083" "04199" "00416084" "04199" "00416085" "04199" "00416086" "04199" "00416087" "04199" "00416088" "04199" "00416089" "04199" "00416090" "04199" "00416091" "04199" "00416092" "04199" "00416093" "04199" "00416094" "04199" "00416095" "04199" "00416096" "04199" "00416097" "04199" "00416098" "04199" "00416099" "04199" "00416100" "04199" "00416101" "04199" "00416102" "04199" "00416103" "04199" "00416104" "04199" "00416105" "04199" "00416106" "04199" "00416107" "04199" "00424945" "00112" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 04199, 04428, 05521, 05611 ## Count = 51 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000025875" "04199" "00032398" "00006" "Familial, autosomal recessive" "00y00m01d" "see paper; ... (esp. treatment), 1d-died cardio-respiratory failure; normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; no stroke like episodes; 1d-respiratory distress/insufficiency; chf, hypertrophic septum, hypoplastic ventricles" "00y00m01d" "" "cardio-respiratory failure" "" "" "" "" "" "" "cardio-respiratory failure" "" "0000025876" "04199" "00032399" "00006" "Familial, autosomal recessive" "" "see paper; ... (esp. treatment), 1d-died cardio-respiratory failure; intrauterine growth restriction; birth preterm ; hypotrophic; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; no stroke like episodes; 1d-respiratory distress/insufficiency; hypertrophic ; intrauterine growth restriction, prenatal hypertrophic cardiomyopathy" "00y00m01d" "" "respiratory failure" "" "" "" "" "" "1d" "respiratory failure" "" "0000025877" "04199" "00032400" "00006" "Familial, autosomal recessive" "00y00m03d" "see paper; ... (esp. treatment), 3d-died multi-organ failure; birth preterm ; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures, myoclonic; no stroke like episodes; encephalopathy; 3d-respiratory distress/insufficiency; no cardiomyopathy; distal arthrogryposis; prenatal ultrasound malformation of cerebellum" "00y00m01d" "" "respiratory distress" "" "" "" "" "" "" "respiratory distress" "" "0000025878" "04199" "00032401" "00006" "Familial, autosomal recessive" "" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 10m-ataxia; 3y-spasticity; tetraparesis/paraparesis; 12y-seizures, focal; stroke like episodes; sensory polyneuropathy; 2d-respiratory distress/insufficiency; feeding difficulties; scoliosis; MRI brain 12y-17y cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); parieto-occipital, gliosis; no cystic degeneration of cerebellum; no basal ganglia involvement; occipito-cortical, juxtacortical" "00y10m" "" "ataxia" "" "" "" "" "" "18y" "ataxia" "" "0000172093" "00198" "00228188" "01807" "Unknown" "" "HP:0006789 (Mitochondrial encephalopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000207682" "00198" "00269886" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Short stature (HP:0004322); Muscular hypotonia of the trunk (HP:0008936); Spastic paraplegia (HP:0001258); Inability to walk (HP:0002540); Strabismus (HP:0000486); Abnormal visual fixation (HP:0025404); Anodontia (HP:0000674); Open mouth (HP:0000194); High palate (HP:0000218)" "" "" "" "" "" "" "" "" "" "" "" "0000230151" "05521" "00303068" "00006" "Familial, autosomal recessive" "" "Epileptic Encephalopathy, Infantile Spasms; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000296542" "05611" "00403862" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307832" "04199" "00416066" "00006" "Familial, autosomal recessive" "00y00m02d" "see paper; ... (esp. treatment), 2d-died multi-organ failure; birth preterm ; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures; no stroke like episodes; 2d-respiratory distress/insufficiency; prenatal ultrasound cerebellar hypoplasia" "00y00m01d" "" "respiratory distress" "" "" "" "" "" "" "respiratory distress" "" "0000307833" "04199" "00416067" "00006" "Familial, autosomal recessive" "20m" "see paper; ... (esp. treatment), normal intrauterine growth; birth preterm ; normal growth; delayed motor development; delayed cognitive development; regression in development; infantile dystonia; infancy spasticity; truncal hypotonia; 10w-seizures, focal seizures secondarily generalized; repetitive status epilepticus; no stroke like episodes; encephalopathy; no polyneuropathy; 1d-respiratory distress/insufficiency; feeding difficulties; no reaction to light or objects; no cardiomyopathy; dysmorphic features; intracerebral bleeding at age of 1 m; 20m-MRI brain cerebellar atrophy (visual inspection); cerebellum reduced in volume ; cerebellar hypoplasia; brainstem reduced in volume; pons area reduced in volume; cerebral atrophy (visual inspection); cerebrum reduced in volume ; no stroke-like abnormalities; cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination" "70d" "" "focal seizures" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307834" "04199" "00416068" "00006" "Familial, autosomal recessive" "2y" "see paper; ... (esp. treatment), hypotrophy, microcephaly; dystrophy, microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; no stroke like episodes; no polyneuropathy; feeding difficulties; poor fixation, strabismus divergens; no cardiomyopathy; 1y-MRI brain cerebellar hypoplasia;" "1d" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307835" "04199" "00416069" "00006" "Familial, autosomal recessive" "38m" "see paper; ... (esp. treatment), microcephaly; birth full term; dystrophy, microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 8w-seizures, focal, secondarily generalized; no stroke like episodes; encephalopathy; no respiratory distress/insufficiency; feeding difficulties; poor fixation; no cardiomyopathy; arched eye brows, synorphys; MRI brain 3m-38m no cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); cerebrum not reduced in volume ; no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination" "6d" "" "focal seizures" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307836" "04199" "00416070" "00006" "Familial, autosomal recessive" "5m" "see paper; ... (esp. treatment), birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; truncal hypotonia; 2m-seizures, focal, secondarily generalized; no stroke like episodes; encephalopathy; no polyneuropathy; no respiratory distress/insufficiency; no cardiomyopathy; no dysmorphic features; 2m-MRI brain no cerebellar atrophy (visual inspection); cerebellum reduced in volume ; cerebellar hypoplasia; brainstem reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); cerebrum not reduced in volume ; no stroke-like abnormalities; cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination" "2m" "" "focal seizures" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307837" "04199" "00416071" "00006" "Familial, autosomal recessive" "10m" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 5m-spasticity; truncal hypotonia; 1w-seizures, tonic, generalized; status epilepticus; no stroke like episodes; encephalopathy; no polyneuropathy; 1d-apnea; no feeding difficulties; no visual fixation; hypertrophic myocardium; no dysmorphic features; 3m-MRI brain cerebellar atrophy (visual inspection); cerebellum reduced in volume ; cerebellar hypoplasia; brainstem reduced in volume; pons area reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; no stroke-like abnormalities; cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination" "1d" "" "apnea, tonic seizures" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307838" "04199" "00416072" "00006" "Familial, autosomal recessive" "2y6m" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; no regression in development; 15m-spasticity; no truncal hypotonia; 2,5y-seizures, generalized; no status epilepticus; no stroke like episodes; no encephalopathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 15m-MRI brain no cerebellar atrophy (visual inspection); no cerebellar hypoplasia; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); bilateral, thalamic lesions; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination" "1d" "" "developmental delay, leg spasticity" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307839" "04199" "00416073" "00006" "Familial, autosomal recessive" "4y" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; no regression in development; ataxia; spasticity; no tetraparesis/paraparesis; truncal hypotonia; no seizures; no stroke like episodes; no encephalopathy; no respiratory distress/insufficiency; feeding difficulties; slow saccadic movements; no cardiomyopathy; no dysmorphic features; MRI brain 4y-5.25y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination" "11m" "" "seizures" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307840" "04199" "00416074" "00006" "Familial, autosomal recessive" "21y" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; regression in development; no ataxia; no dystonia; no dysarthria; no dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; 16m-seizures, generalized; repetitive status epilepticus; 16m-stroke like episodes; encephalopathy; sensory motor polyneuropathy; no respiratory distress/insufficiency; feeding difficulties; abnormal VEPs; no cardiomyopathy; no dysmorphic features; scoliosis, contractures; MRI brain 14,3y-18.7y cerebellar atrophy (visual inspection); cerebellum reduced in volume ; no cerebellar hypoplasia; brainstem reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum reduced in volume ; parieto-occipital, ri>le; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; parieto-occipital; normal myelination; normal myelination" "16m" "" "status epilepticus" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307841" "04199" "00416075" "00006" "Familial, autosomal recessive" "20y" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; regression in development; no ataxia; no dystonia; no dysarthria; no dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 13m-seizures, generalized; repetitive status epilepticus; 13m-stroke like episodes; encephalopathy; sensory motor polyneuropathy; 18y-tracheostomy secondary to acute respiratory failure ; feeding difficulties; abnormal VEPs; no cardiomyopathy; no dysmorphic features; scoliosis, contractures; MRI brain 17,3y-19.4y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; occipito-parietal, gliosis; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; parieto-occipital; normal myelination; normal myelination" "13m" "" "status epilepticus" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307842" "04199" "00416076" "00006" "Familial, autosomal recessive" "8y" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; regression in development; 4m-ataxia; 2y-dystonia; dysarthria; dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 2y-seizures, focal, tonic ; repetitive status epilepticus; 2y-repetitive stroke like episodes; encephalopathy; nocturnal apneic episodes; feeding difficulties; hyperopia, strabismus; no cardiomyopathy; large ears with overfolded helix, full eyebrows, depressed nasal root, short nose with bulbous tip, long philtrum, deep-set eyes, impression of hypertelorism, singular palmar crease bilateral; kyphoscoliosis; MRI brain 2y-6.25y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; parieto-occipital, gliosis; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipito-parietal, parasagittal cortico-subcortical lesions, oliguric formation; arachnoidal cyst; normal myelination; normal myelination" "1m15d" "" "respiratory distress (ALTE), developmental delay, truncal hypotonia" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307843" "04199" "00416077" "00006" "Familial, autosomal recessive" "7y" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 36m-ataxia; 2y-dysarthria; 3y-dysmetria; 3y-tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 5y-seizures, generalized tonic-clonic, apnea; repetitive status epilepticus; no stroke like episodes; encephalopathy; feeding difficulties; intermittent. divergent strabismus; no cardiomyopathy; no dysmorphic features; contractures, slight scoliosis; 6.25y-MRI brain no cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination" "1d" "" "leg spasticity" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307844" "04199" "00416078" "00006" "Familial, autosomal recessive" "3y6m" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; regression in development; 15m-ataxia; 15m-dystonia; dysarthria; dysmetria; tremor; 15m-spasticity; hemiparesis; truncal hypotonia; 2y-seizures, none under medication; 2y-status epilepticus ; 2y-stroke like episodes; encephalopathy; no polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; strabismus; no cardiomyopathy; short bulbous nose, broad nasal bridge, long philtrum, deep-set eyes, broad eyebrows, impression of hypertelorism; MRI brain 1y6m-normal, 3y3m-no cerebellar atrophy (visual inspection); no cerebellar hypoplasia; no cerebral atrophy (visual inspection); parieto-occipital ri>le; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; T2/FLAIR abnormalities white matter (white matter and cortical); enlarged supratentorial ventricles; normal myelination; normal myelination" "15m" "" "motoric regression, spasticity in lower extremities" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307845" "04199" "00416079" "00006" "Familial, autosomal recessive" "5y6m" "see paper; ... (esp. treatment), microcephaly; delayed motor development; delayed cognitive development; regression in development; truncal hypotonia; seizures; MRI brain T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination" "1d" "" "hypotonia, infantile spasm (epilepsy)" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307846" "04199" "00416080" "00006" "Familial, autosomal recessive" "7m" "see paper; ... (esp. treatment), microcephaly, hypotrophy; delayed motor development; truncal hypotonia; seizures; cortical visual impairment; no dysmorphic features; microcephaly with anterior forebrain most affected;" "1d" "" "hypotonia, infantile spasm (epilepsy)" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307847" "04199" "00416081" "00006" "Familial, autosomal recessive" "3y" "see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; truncal hypotonia;" "6m" "" "hypotonia, developmental delay" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307848" "04199" "00416082" "00006" "Familial, autosomal recessive" "3y" "see paper; ... (esp. treatment), 6y-died seizures; normal intrauterine growth; birth full term; microcephaly; delayed motor development; delayed cognitive development; no regression in development; 3m-ataxia; 6m-dystonia; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 3m-seizures, infantile spasms, later generalized tonic clonic seizures; no status epilepticus; no stroke like episodes; encephalopathy; polyneuropathy; no respiratory distress/insufficiency; feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 3y-MRI brain cerebellar atrophy (visual inspection); no cerebellar hypoplasia; cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; bilaterally symmetrical olivary nuclei hypertrophy, appearing hyperintense on T2W and FLAIR images, bilateral hippocampal atrophy, posterior limb of internal capsule showed hyperintense signal on T2W images; delayed myelination; delayed myelination" "3m" "" "infantile spasms" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307849" "04199" "00416083" "00006" "Familial, autosomal recessive" "" "see paper; ... (esp. treatment), 4y-died; infancy spasticity; tetraparesis/paraparesis; infancy seizures; encephalopathy;" "1d" "" "seizures" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307850" "04199" "00416084" "00006" "Familial, autosomal recessive" "26y" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 8y-ataxia; dysarthria; dysmetria; childhood spasticity; tetraparesis/paraparesis; truncal hypotonia; 12y-seizures, partial; 8y-stroke like episodes; no encephalopathy; polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 26y-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipital cortical, subcortical hyperintensities;" "8y" "" "ataxia" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307851" "04199" "00416085" "00006" "Familial, autosomal recessive" "27y" "see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 8y-ataxia; dysarthria; dysmetria; childhood spasticity; no tetraparesis/paraparesis; no truncal hypotonia; 12y-seizures; 8y-stroke like episodes; no encephalopathy; polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 27y-MRI brain no cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; occipital-parietal and mediolateral, cortical and subcortical lesions, gliosis and oliguria; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipital cortical and subcortical hyperintensities; normal myelination; normal myelination" "8y" "" "ataxia" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307852" "04199" "00416086" "00006" "Familial, autosomal recessive" "15y" "see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; regression in development; 4y-ataxia; dysarthria; 4y-tremor; childhood spasticity; tetraparesis/paraparesis; no truncal hypotonia; 12y-seizures, tonic-clonic; stroke like episodes; no respiratory distress/insufficiency; no feeding difficulties; no dysmorphic features; 5y-MRI brain no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; tectal glioma;" "1y" "" "developmental delay" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307853" "04199" "00416087" "00006" "Familial, autosomal recessive" "14y" "see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; regression in development; 10y-ataxia; 19y-tremor; no truncal hypotonia; 9y-seizures, tonic-clonic; 13y-stroke like episodes; no respiratory distress/insufficiency; no feeding difficulties; no dysmorphic features; MRI brain 9y-13y no cerebral atrophy (visual inspection); stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; parieto-occipital; cavernoma left parietal lobe;" "9y" "" "seizures" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307854" "04199" "00416088" "00006" "Familial, autosomal recessive" "2m" "see paper; ... (esp. treatment), 2m-died cardio-respiratory failure; normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures, generalized; no stroke like episodes; encephalopathy; 2m-respiratory distress/insufficiency; feeding difficulties; hypertrophic; glomerulosclerosis; 1w-MRI brain cerebellar hypoplasia; no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; diffuse hyperintensities T2/FLAIR white matter;" "1d" "" "respiratory distress" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307855" "04199" "00416089" "00006" "Familial, autosomal recessive" "2d" "see paper; ... (esp. treatment), 3d-died cardio-respiratory failure; normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures; 3d-respiratory distress/insufficiency; cardiomegaly;" "1d" "" "respiratory distress" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307856" "04199" "00416090" "00006" "Familial, autosomal recessive" "4d" "see paper; ... (esp. treatment), 4d-died cardio-respiratory failure; hypotrophic intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures, generalized; no stroke like episodes; encephalopathy; 4d-respiratory distress/insufficiency; hypertrophic ; no dysmorphic features; 28w prenatal ultrasound suggestive for cardiomyopathy, possible cerebellar hypoplasia and intrauterine growth restriction.;" "1d" "" "seizures, respiratory distress" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307857" "04199" "00416091" "00006" "Familial, autosomal recessive" "9m" "see paper; ... (esp. treatment), 19m-died; hypertrophic intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; decreased fetal movements; 1d-MRI brain cerebellar hypoplasia; cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum;" "1d" "" "seizures, respiratory distress" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307858" "04199" "00416092" "00006" "Familial, autosomal recessive" "70d" "see paper; ... (esp. treatment), 70d-died coma; normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; no stroke like episodes; 1d-respiratory distress/insufficiency; feeding difficulties; no cardiomyopathy; cMRI prenatal normal; MRI brain prenatal-2d cerebellar hypoplasia; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement;" "1d" "" "respiratory distress" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307859" "04199" "00416093" "00006" "Familial, autosomal recessive" "49d" "see paper; ... (esp. treatment), 49d-died; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; hip dysplasia; 1w-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement;" "1d" "" "hypotonia, respiratory distress" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307860" "04199" "00416094" "00006" "Familial, autosomal recessive" "4m" "see paper; ... (esp. treatment), 4m-died cardio-respiratory failure; birth full term; microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 5d-seizures, generalized; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties reflux; structural abnormalities of the eyes; hypertrophic; hearing loss; MRI brain 1w-10w no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement;" "1d" "" "apnea" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307861" "04199" "00416095" "00006" "Familial, autosomal recessive" "8m" "see paper; ... (esp. treatment), 8m-died respiratory failure; intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 14d-seizures; no stroke like episodes; encephalopathy; 7d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; intrauterine growth restriction; MRI brain 3w-3m cerebellar atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; bilateral cystic degeneration (noncerebellar); basal ganglia involvement, hyperintensities of bilateral. lentiform nuclei; cystic infarcts after crisis; restricted diffusion bilateral frontal wm;" "7d" "" "apnea" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307862" "04199" "00416096" "00006" "Familial, autosomal recessive" "2d" "see paper; ... (esp. treatment), 2d-died respiratory failure; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; no stroke like episodes; 1d-respiratory distress/insufficiency; hypertrophic;" "1d" "" "respiratory distress" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307863" "04199" "00416097" "00006" "Familial, autosomal recessive" "9m" "see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 4m-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; cardiogenic shock; 7w-MRI brain mild cerebellar hypoplasia; thinning corpus callosum;" "1d" "" "respiratory distress" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307864" "04199" "00416098" "00006" "Familial, autosomal recessive" "4y6m" "see paper; ... (esp. treatment), intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; left ventricular hypertrophy; intrauterine growth restriction; MRI brain 7d-9m cerebellar atrophy (visual inspection); cerebellar hypoplasia; cerebral atrophy (visual inspection), cystic changes; no stroke-like abnormalities; no cystic degeneration of cerebellum; cystic degeneration (noncerebellar) basal ganglia, wm, thalami; hyperintensity then cystic changes; thinning corpus callosum;" "1d" "" "respiratory distress" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307865" "04199" "00416099" "00006" "Familial, autosomal recessive" "1y" "see paper; ... (esp. treatment), 1y-died respiratory failure; intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; cardiomegaly; intrauterine growth restriction;" "1d" "" "seizures" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307866" "04199" "00416100" "00006" "Familial, autosomal recessive" "3y" "see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infantile dystonia; truncal hypotonia; no stroke like episodes; feeding difficulties; cortical visual impairment; no cardiomyopathy; MRI brain 3w-1y4m no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement;" "1d" "" "developmental delay" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307867" "04199" "00416101" "00006" "Familial, autosomal recessive" "3y6m" "see paper; ... (esp. treatment), 3y6m-died; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 5m-dystonia; 5m-spasticity; tetraparesis/paraparesis; no stroke like episodes; feeding difficulties; cortical visual impairment; no cardiomyopathy; 6m-MRI brain no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement;" "1d" "" "visual impairment" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307868" "04199" "00416102" "00006" "Familial, autosomal recessive" "3y3m" "see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; infantile dystonia; infancy spasticity; no truncal hypotonia; 6m-seizures, infantile spasm ; no stroke like episodes; cortical visual impairment; no cardiomyopathy; MRI brain 6m-35m cerebellar atrophy (visual inspection); cerebellar hypoplasia; cerebral atrophy (visual inspection); no cystic degeneration of cerebellum; hyperintensity left lentiform nucleus;" "6m" "" "infantile spasm" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307869" "04199" "00416103" "00006" "Familial, autosomal recessive" "7y" "see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; no truncal hypotonia; 2m-seizures, infantile spasm ; no stroke like episodes; no visual impairment/eye movement disorder; no cardiomyopathy; 32m-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; thinning corpus callosum;" "2m" "" "infantile spasm" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307870" "04199" "00416104" "00006" "Familial, autosomal recessive" "1y6m" "see paper; ... (esp. treatment), birth preterm ; delayed motor development; delayed cognitive development; regression in development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; cortical blindness; dilated cardiomyopathy; 14m-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; mild thinning corpus callosum;" "1d" "" "respiratory distress/hypotonia" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307871" "04199" "00416105" "00006" "Familial, autosomal recessive" "1y8m" "see paper; ... (esp. treatment), 20m-died sepsis; birth full term; delayed motor development; delayed cognitive development; 4m-spasticity; truncal hypotonia; 4m-seizures; no stroke like episodes; feeding difficulties; myocarditis; 1y-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; white matter cystic changes; basal ganglia involvement; thinning corpus callosum;" "4m" "" "seizures" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307872" "04199" "00416106" "00006" "Familial, autosomal recessive" "5m" "see paper; ... (esp. treatment), 5m-died metabolic crisis; birth full term; hypotrophic; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-dystonia; truncal hypotonia; 2m-seizures, complex partial; no stroke like episodes; encephalopathy; respiratory distress/insufficiency; feeding difficulties; hearing impairment; 5m-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; basal ganglia involvement;" "1d" "" "developmental delay, failure to thrive, dystonia" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307873" "04199" "00416107" "00006" "Familial, autosomal recessive" "12m" "see paper; ... (esp. treatment), birth full term; hypotrophic; delayed motor development; delayed cognitive development; 1d-dystonia; truncal hypotonia; 2m-seizures; no stroke like episodes; encephalopathy; respiratory distress/insufficiency; feeding difficulties; nystagmus; MRI brain 1m-normal, 4m-cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; bilateral, sym. midbrain and basal ganglia lesions;" "1d" "" "developmental delay, failure to thrive, dystonia" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000316144" "00112" "00424945" "00006" "Familial, autosomal recessive" "56y" "29y-incidental finding during routine check-up; 35y-vision problems prolonged dark adaptation, followed by vision problems in dark; retinitis pigmentosa, hyperopia, attenuated retinal vessels; hypertension,52y-breast carcinoma" "29y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 51 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000032466" "00032398" "1" "00006" "00006" "2015-02-20 20:07:13" "00006" "2015-02-20 20:10:53" "SEQ;SEQ-NG" "DNA" "" "" "0000032467" "00032399" "1" "00006" "00006" "2015-02-20 20:14:53" "" "" "SEQ" "DNA" "" "" "0000032468" "00032400" "1" "00006" "00006" "2015-02-20 20:20:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032469" "00032401" "1" "00006" "00006" "2015-02-20 20:26:17" "" "" "SEQ" "DNA" "" "" "0000229277" "00228188" "1" "01807" "01807" "2019-03-20 12:20:14" "" "" "SEQ" "DNA" "" "" "0000271039" "00269886" "1" "01807" "01807" "2019-12-10 12:31:40" "" "" "SEQ" "DNA" "" "" "0000304193" "00303068" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000405100" "00403862" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417346" "00416066" "1" "00006" "00006" "2022-08-22 17:54:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417347" "00416067" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417348" "00416068" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417349" "00416069" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417350" "00416070" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417351" "00416071" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417352" "00416072" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417353" "00416073" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417354" "00416074" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417355" "00416075" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417356" "00416076" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417357" "00416077" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417358" "00416078" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417359" "00416079" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417360" "00416080" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417361" "00416081" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417362" "00416082" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417363" "00416083" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417364" "00416084" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417365" "00416085" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417366" "00416086" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417367" "00416087" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417368" "00416088" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417369" "00416089" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417370" "00416090" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417371" "00416091" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417372" "00416092" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417373" "00416093" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417374" "00416094" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417375" "00416095" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417376" "00416096" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417377" "00416097" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417378" "00416098" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417379" "00416099" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417380" "00416100" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417381" "00416101" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417382" "00416102" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417383" "00416103" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417384" "00416104" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417385" "00416105" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417386" "00416106" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417387" "00416107" "1" "00006" "00006" "2022-08-22 19:29:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000426263" "00424945" "1" "00006" "00006" "2022-11-23 21:09:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000032466" "COQ4" "0000032467" "COQ4" "0000032468" "COQ4" "0000032469" "COQ4" "0000304193" "COQ4" ## 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 = 90 "{{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}}" "0000058626" "3" "90" "9" "131094462" "131094462" "subst" "4.75082E-6" "00006" "COQ4_000001" "g.131094462C>G" "" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}" "" "" "exome sequencing" "Germline" "yes" "" "0" "" "" "g.128332183C>G" "" "pathogenic" "" "0000058627" "21" "90" "9" "131095844" "131095844" "subst" "0.000189717" "00006" "COQ4_000002" "g.131095844C>T" "" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}" "" "" "" "Germline" "yes" "rs143441644" "0" "" "" "g.128333565C>T" "" "pathogenic" "" "0000058628" "11" "90" "9" "131094450" "131094450" "subst" "0" "00006" "COQ4_000003" "g.131094450C>T" "" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128332171C>T" "" "pathogenic" "" "0000058629" "11" "90" "9" "131085379" "131085379" "subst" "0" "00006" "COQ4_000004" "g.131085379T>C" "" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128323100T>C" "" "pathogenic" "" "0000058630" "21" "90" "9" "131094550" "131094552" "del" "0" "00006" "COQ4_000005" "g.131094550_131094552del" "" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}" "" "521_523delCCA" "" "Germline" "yes" "" "0" "" "" "g.128332271_128332273del" "" "pathogenic" "" "0000058631" "3" "90" "9" "131085414" "131085414" "subst" "9.07112E-6" "00006" "COQ4_000006" "g.131085414C>T" "" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128323135C>T" "" "pathogenic" "" "0000267082" "0" "70" "9" "131094487" "131094487" "subst" "0" "02325" "COQ4_000007" "g.131094487C>T" "" "" "" "COQ4(NM_016035.5):c.458C>T (p.A153V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128332208C>T" "" "likely pathogenic" "" "0000274336" "0" "10" "9" "131094512" "131094512" "subst" "0.0062303" "01943" "COQ4_000008" "g.131094512G>C" "" "" "" "COQ4(NM_016035.3):c.483G>C (p.(Glu161Asp)), COQ4(NM_016035.4):c.483G>C (p.E161D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128332233G>C" "" "benign" "" "0000317157" "0" "50" "9" "131072049" "131072049" "subst" "8.12387E-6" "01943" "TRUB2_000001" "g.131072049C>T" "" "" "" "TRUB2(NM_015679.3):c.776G>A (p.R259H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128309770C>T" "" "VUS" "" "0000470434" "3" "70" "9" "131094466" "131094466" "subst" "4.54145E-6" "01807" "COQ4_000009" "g.131094466T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.128332187T>G" "" "likely pathogenic" "" "0000536373" "0" "30" "9" "131083973" "131083973" "subst" "4.06114E-6" "01804" "COQ4_000010" "g.131083973C>T" "" "" "" "TRUB2(NM_015679.1):c.146G>A (p.(Arg49His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128321694C>T" "" "likely benign" "" "0000536375" "0" "30" "9" "131085196" "131085196" "subst" "0.0320821" "01804" "COQ4_000012" "g.131085196G>A" "" "" "" "COQ4(NM_016035.5):c.59G>A (p.(Arg20Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128322917G>A" "" "likely benign" "" "0000536376" "0" "50" "9" "131085327" "131085327" "subst" "0.000182561" "01804" "COQ4_000013" "g.131085327G>A" "" "" "" "COQ4(NM_016035.5):c.103G>A (p.(Gly35Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128323048G>A" "" "VUS" "" "0000536377" "0" "70" "9" "131087449" "131087449" "subst" "0" "02327" "COQ4_000014" "g.131087449C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128325170C>T" "" "likely pathogenic" "" "0000536378" "0" "30" "9" "131094512" "131094512" "subst" "0.0062303" "01804" "COQ4_000008" "g.131094512G>C" "" "" "" "COQ4(NM_016035.3):c.483G>C (p.(Glu161Asp)), COQ4(NM_016035.4):c.483G>C (p.E161D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128332233G>C" "" "likely benign" "" "0000611878" "0" "30" "9" "131095210" "131095210" "subst" "0.00103139" "01804" "COQ4_000015" "g.131095210G>A" "" "" "" "COQ4(NM_016035.3):c.614G>A (p.(Arg205Gln)), COQ4(NM_016035.4):c.614G>A (p.R205Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128332931G>A" "" "likely benign" "" "0000624887" "3" "70" "9" "131094487" "131094487" "subst" "0" "01807" "COQ4_000007" "g.131094487C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.128332208C>T" "" "likely pathogenic" "" "0000667606" "1" "70" "9" "131085426" "131085426" "subst" "4.36237E-5" "00006" "COQ4_000016" "g.131085426G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128323147G>C" "" "likely pathogenic (recessive)" "ACMG" "0000667623" "2" "70" "9" "131094498" "131094498" "subst" "0" "00006" "COQ4_000017" "g.131094498C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128332219C>A" "" "likely pathogenic (recessive)" "ACMG" "0000678533" "0" "30" "9" "131085185" "131085185" "subst" "0.00020536" "02326" "COQ4_000018" "g.131085185G>C" "" "" "" "COQ4(NM_016035.4):c.48G>C (p.P16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690416" "0" "30" "9" "131095759" "131095759" "subst" "2.13036E-5" "01943" "COQ4_000019" "g.131095759G>C" "" "" "" "COQ4(NM_016035.4):c.633G>C (p.L211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803887" "0" "30" "9" "131085169" "131085169" "subst" "0" "01943" "COQ4_000020" "g.131085169G>C" "" "" "" "COQ4(NM_016035.4):c.32G>C (p.R11P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803888" "0" "30" "9" "131088115" "131088115" "subst" "0.000491355" "02326" "COQ4_000021" "g.131088115G>T" "" "" "" "COQ4(NM_016035.4):c.357G>T (p.P119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841161" "3" "90" "9" "131094487" "131094487" "subst" "0" "00006" "COQ4_000007" "g.131094487C>T" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.128332208C>T" "" "pathogenic (recessive)" "" "0000852114" "0" "50" "9" "131085138" "131085138" "subst" "1.20218E-5" "01943" "COQ4_000022" "g.131085138A>G" "" "" "" "COQ4(NM_016035.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000876987" "11" "90" "9" "131085379" "131085379" "subst" "0" "00006" "COQ4_000004" "g.131085379T>C" "" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128323100T>C" "" "pathogenic (recessive)" "" "0000876988" "21" "90" "9" "131094550" "131094552" "del" "0" "00006" "COQ4_000005" "g.131094550_131094552del" "" "{PMID:Brea-Calvo 2015:25658047}, {DOI:Brea-Calvo 2015:10.1016/j.ajhg.2014.12.023}" "" "521_523delCCA" "" "Germline" "yes" "" "0" "" "" "g.128332271_128332273del" "" "pathogenic (recessive)" "" "0000876989" "3" "90" "9" "131094487" "131094487" "subst" "0" "00006" "COQ4_000007" "g.131094487C>T" "" "{PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128332208C>T" "" "pathogenic (recessive)" "" "0000876990" "3" "90" "9" "131094487" "131094487" "subst" "0" "00006" "COQ4_000007" "g.131094487C>T" "" "{PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128332208C>T" "" "pathogenic (recessive)" "" "0000876991" "3" "90" "9" "131094466" "131094466" "subst" "4.54145E-6" "00006" "COQ4_000009" "g.131094466T>G" "" "{PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128332187T>G" "" "pathogenic (recessive)" "" "0000876992" "1" "90" "9" "131094498" "131094498" "subst" "0" "00006" "COQ4_000017" "g.131094498C>A" "" "{PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128332219C>A" "" "pathogenic (recessive)" "" "0000876993" "3" "90" "9" "131094498" "131094498" "subst" "0" "00006" "COQ4_000017" "g.131094498C>A" "" "{PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128332219C>A" "" "pathogenic (recessive)" "" "0000876994" "3" "90" "9" "131094466" "131094466" "subst" "4.54145E-6" "00006" "COQ4_000009" "g.131094466T>G" "" "{PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128332187T>G" "" "pathogenic (recessive)" "" "0000876995" "1" "90" "9" "131095173" "131095173" "subst" "0" "00006" "COQ4_000034" "g.131095173C>T" "" "{PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128332894C>T" "" "pathogenic (recessive)" "" "0000876996" "3" "90" "9" "131085414" "131085414" "subst" "9.07112E-6" "00006" "COQ4_000006" "g.131085414C>T" "" "{PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128323135C>T" "" "pathogenic (recessive)" "" "0000876997" "3" "90" "9" "131085414" "131085414" "subst" "9.07112E-6" "00006" "COQ4_000006" "g.131085414C>T" "" "{PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128323135C>T" "" "pathogenic (recessive)" "" "0000876998" "3" "90" "9" "131094466" "131094466" "subst" "4.54145E-6" "00006" "COQ4_000009" "g.131094466T>G" "" "{PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128332187T>G" "" "pathogenic (recessive)" "" "0000876999" "3" "90" "9" "131094498" "131094498" "subst" "0" "00006" 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"131088161" "subst" "2.43704E-5" "00006" "COQ4_000031" "g.131088161G>C" "" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128325882G>C" "" "pathogenic (recessive)" "" "0000877040" "2" "90" "9" "131088161" "131088161" "subst" "2.43704E-5" "00006" "COQ4_000031" "g.131088161G>C" "" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128325882G>C" "" "pathogenic (recessive)" "" "0000877041" "2" "90" "9" "131088161" "131088161" "subst" "2.43704E-5" "00006" "COQ4_000031" "g.131088161G>C" "" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128325882G>C" "" "pathogenic (recessive)" "" "0000877042" "2" "90" "9" "131088161" "131088161" "subst" "2.43704E-5" "00006" "COQ4_000031" "g.131088161G>C" "" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128325882G>C" "" "pathogenic (recessive)" "" "0000877043" "2" "90" "9" "131088161" "131088161" "subst" "2.43704E-5" "00006" "COQ4_000031" "g.131088161G>C" "" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128325882G>C" "" "pathogenic (recessive)" "" "0000877044" "21" "90" "9" "131088129" "131088129" "subst" "4.06091E-6" "00006" "COQ4_000030" "g.131088129G>T" "" "{PMID:Yu 2019:31396399}, {PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128325850G>T" "" "pathogenic (recessive)" "" "0000877045" "11" "70" "9" "131088114" "131088114" "subst" "1.21825E-5" "00006" "COQ4_000023" "g.131088114C>T" "" "{PMID:Sondheimer 2017:28540186}, {PMID:Laugwitz 2022:34656997}" "" "" "" "Germline" "" "" "0" "" "" "g.128325835C>T" "" "VUS" "" "0000888636" "0" "30" "9" "131095733" "131095733" "subst" "0" "02326" "COQ4_000035" "g.131095733T>C" "" "" "" "COQ4(NM_016035.4):c.627-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000903225" "1" "70" "9" "131095818" "131095818" "subst" "0" "00006" "COQ4_000036" "g.131095818G>A" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PM2, PP2, PP3" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000903226" "2" "70" "9" "131088134" "131088134" "subst" "0.000158379" "00006" "COQ4_000037" "g.131088134G>A" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000913088" "0" "30" "9" "131095210" "131095210" "subst" "0.00103139" "02326" "COQ4_000015" "g.131095210G>A" "" "" "" "COQ4(NM_016035.3):c.614G>A (p.(Arg205Gln)), COQ4(NM_016035.4):c.614G>A (p.R205Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978412" "0" "30" "9" "131094540" "131094540" "subst" "0.000245298" "01804" "COQ4_000038" "g.131094540G>A" "" "" "" "COQ4(NM_016035.5):c.511G>A (p.(Gly171Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037194" "0" "50" "9" "131085138" "131085138" "subst" "1.80327E-5" "01804" "COQ4_000039" "g.131085138A>T" "" "" "" "COQ4(NM_016035.5):c.1A>T (p.(Met1?))" "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 COQ4 ## Count = 90 "{{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}}" "0000058626" "00005539" "90" "433" "0" "433" "0" "c.433C>G" "r.(?)" "p.(Arg145Gly)" "5" "0000058627" "00005539" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "7" "0000058628" "00005539" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141*)" "5" "0000058629" "00005539" "90" "155" "0" "155" "0" "c.155T>C" "r.(?)" "p.(Leu52Ser)" "2" "0000058630" "00005539" "90" "521" "0" "523" "0" "c.521_523del" "r.(?)" "p.(Thr174del)" "5" "0000058631" "00005539" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Pro64Ser)" "2" "0000267082" "00005539" "70" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000274336" "00005539" "10" "483" "0" "483" "0" "c.483G>C" "r.(?)" "p.(Glu161Asp)" "" "0000317157" "00005539" "50" "-13089" "0" "-13089" "0" "c.-13089C>T" "r.(?)" "p.(=)" "" "0000470434" "00005539" "70" "437" "0" "437" "0" "c.437T>G" "r.(?)" "p.(Phe146Cys)" "" "0000536373" "00005539" "30" "-1165" "0" "-1165" "0" "c.-1165C>T" "r.(?)" "p.(=)" "" "0000536375" "00005539" "30" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20Gln)" "" "0000536376" "00005539" "50" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Gly35Ser)" "" "0000536377" "00005539" "70" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Thr77Ile)" "" "0000536378" "00005539" "30" "483" "0" "483" "0" "c.483G>C" "r.(?)" "p.(Glu161Asp)" "" "0000611878" "00005539" "30" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "" "0000624887" "00005539" "70" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000667606" "00005539" "70" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000667623" "00005539" "70" "469" "0" "469" "0" "c.469C>A" "r.(?)" "p.(Gln157Lys)" "" "0000678533" "00005539" "30" "48" "0" "48" "0" "c.48G>C" "r.(?)" "p.(Pro16=)" "" "0000690416" "00005539" "30" "633" "0" "633" "0" "c.633G>C" "r.(?)" "p.(Leu211=)" "" "0000803887" "00005539" "30" "32" "0" "32" "0" "c.32G>C" "r.(?)" "p.(Arg11Pro)" "" "0000803888" "00005539" "30" "357" "0" "357" "0" "c.357G>T" "r.(?)" "p.(Pro119=)" "" "0000841161" "00005539" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000852114" "00005539" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000876987" "00005539" "90" "155" "0" "155" "0" "c.155T>C" "r.(?)" "p.(Leu52Ser)" "" "0000876988" "00005539" "90" "521" "0" "523" "0" "c.521_523del" "r.(?)" "p.(Thr174del)" "" "0000876989" "00005539" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000876990" "00005539" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000876991" "00005539" "90" "437" "0" "437" "0" "c.437T>G" "r.(?)" "p.(Phe146Cys)" "" "0000876992" "00005539" "90" "469" "0" "469" "0" "c.469C>A" "r.(?)" "p.(Gln157Lys)" "" "0000876993" "00005539" "90" "469" "0" "469" "0" "c.469C>A" "r.(?)" "p.(Gln157Lys)" "" "0000876994" "00005539" "90" "437" "0" "437" "0" "c.437T>G" "r.(?)" "p.(Phe146Cys)" "" "0000876995" "00005539" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Pro193Ser)" "" "0000876996" "00005539" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Pro64Ser)" "" "0000876997" "00005539" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Pro64Ser)" "" "0000876998" "00005539" "90" "437" "0" "437" "0" "c.437T>G" "r.(?)" "p.(Phe146Cys)" "" "0000876999" "00005539" "90" "469" "0" "469" "0" "c.469C>A" "r.(?)" "p.(Gln157Lys)" "" "0000877000" "00005539" "90" "437" "0" "437" "0" "c.437T>G" "r.(?)" "p.(Phe146Cys)" "" "0000877001" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877002" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877003" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877004" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877005" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877006" "00005539" "90" "164" "0" "164" "0" "c.164G>T" "r.(?)" "p.(Gly55Val)" "" "0000877007" "00005539" "90" "164" "0" "164" "0" "c.164G>T" "r.(?)" "p.(Gly55Val)" "" "0000877008" "00005539" "90" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Thr77Ile)" "" "0000877009" "00005539" "90" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Thr77Ile)" "" "0000877010" "00005539" "90" "245" "0" "245" "0" "c.245T>A" "r.(?)" "p.(Leu82Gln)" "" "0000877011" "00005539" "90" "245" "0" "245" "0" "c.245T>A" "r.(?)" "p.(Leu82Gln)" "" "0000877012" "00005539" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000877013" "00005539" "90" "197" "0" "198" "0" "c.197_198delinsAA" "r.(?)" "p.(Arg66Gln)" "" "0000877014" "00005539" "90" "197" "0" "198" "0" "c.197_198delinsAA" "r.(?)" "p.(Arg66Gln)" "" "0000877015" "00005539" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000877016" "00005539" "70" "311" "0" "311" "0" "c.311G>T" "r.(?)" "p.(Arg104Leu)" "" "0000877017" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877018" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877019" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877020" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877021" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877022" "00005539" "90" "550" "0" "550" "0" "c.550T>C" "r.(?)" "p.(Trp184Arg)" "" "0000877023" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877024" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877025" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877026" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877027" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877028" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877029" "00005539" "90" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Ser)" "" "0000877030" "00005539" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000877031" "00005539" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000877032" "00005539" "90" "371" "0" "371" "0" "c.371G>T" "r.(?)" "p.(Gly124Val)" "" "0000877033" "00005539" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000877034" "00005539" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000877035" "00005539" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000877036" "00005539" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000877037" "00005539" "90" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Asp68His)" "" "0000877038" "00005539" "90" "23" "0" "33" "0" "c.23_33del" "r.(?)" "p.(Val8AlafsTer19)" "" "0000877039" "00005539" "90" "402" "1" "402" "1" "c.402+1G>C" "r.spl" "p.?" "" "0000877040" "00005539" "90" "402" "1" "402" "1" "c.402+1G>C" "r.spl" "p.?" "" "0000877041" "00005539" "90" "402" "1" "402" "1" "c.402+1G>C" "r.spl" "p.?" "" "0000877042" "00005539" "90" "402" "1" "402" "1" "c.402+1G>C" "r.spl" "p.?" "" "0000877043" "00005539" "90" "402" "1" "402" "1" "c.402+1G>C" "r.spl" "p.?" "" "0000877044" "00005539" "90" "371" "0" "371" "0" "c.371G>T" "r.(?)" "p.(Gly124Val)" "" "0000877045" "00005539" "70" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Pro119Leu)" "" "0000888636" "00005539" "30" "627" "-20" "627" "-20" "c.627-20T>C" "r.(=)" "p.(=)" "" "0000903225" "00005539" "70" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Cys231Tyr)" "" "0000903226" "00005539" "70" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Glu126Lys)" "" "0000913088" "00005539" "30" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "" "0000978412" "00005539" "30" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Gly171Arg)" "" "0001037194" "00005539" "50" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 72 "{{screeningid}}" "{{variantid}}" "0000032466" "0000058626" "0000032467" "0000058627" "0000032467" "0000058628" "0000032468" "0000058629" "0000032468" "0000058630" "0000032469" "0000058631" "0000229277" "0000470434" "0000271039" "0000624887" "0000304193" "0000667606" "0000304193" "0000667623" "0000405100" "0000841161" "0000417346" "0000876987" "0000417346" "0000876988" "0000417347" "0000876989" "0000417348" "0000876990" "0000417349" "0000876991" "0000417350" "0000876992" "0000417350" "0000877030" "0000417351" "0000876993" "0000417352" "0000876994" "0000417353" "0000876995" "0000417353" "0000877031" "0000417354" "0000876996" "0000417355" "0000876997" "0000417356" "0000876998" "0000417357" "0000876999" "0000417358" "0000877000" "0000417359" "0000877001" "0000417360" "0000877002" "0000417360" "0000877032" "0000417361" "0000877003" "0000417361" "0000877033" "0000417362" "0000877004" "0000417363" "0000877005" "0000417364" "0000877006" "0000417365" "0000877007" "0000417366" "0000877008" "0000417367" "0000877009" "0000417368" "0000877010" "0000417368" "0000877034" "0000417369" "0000877011" "0000417369" "0000877035" "0000417370" "0000877012" "0000417371" "0000877013" "0000417371" "0000877036" "0000417372" "0000877014" "0000417372" "0000877037" "0000417373" "0000877015" "0000417374" "0000877016" "0000417374" "0000877038" "0000417374" "0000877045" "0000417375" "0000877017" "0000417375" "0000877039" "0000417376" "0000877018" "0000417376" "0000877040" "0000417377" "0000877019" "0000417378" "0000877020" "0000417378" "0000877041" "0000417379" "0000877021" "0000417379" "0000877042" "0000417380" "0000877022" "0000417380" "0000877043" "0000417381" "0000877023" "0000417382" "0000877024" "0000417382" "0000877044" "0000417383" "0000877025" "0000417384" "0000877026" "0000417385" "0000877027" "0000417386" "0000877028" "0000417387" "0000877029" "0000426263" "0000903225" "0000426263" "0000903226"