### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COASY) # 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}}" "COASY" "CoA synthase" "17" "q12-q21" "unknown" "NC_000017.10" "UD_136018752128" "" "http://www.LOVD.nl/COASY" "" "1" "29932" "80347" "609855" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/COASY_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-12-01 05:14:02" "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}}" "00005442" "COASY" "transcript variant 1" "001" "NM_025233.6" "" "NP_079509.5" "" "" "" "-549" "2008" "1695" "40714092" "40718299" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00433" "NBIA1" "neurodegeneration, with brain iron accumulation, type 1 (NBIA)" "AR" "234200" "" "" "" "00006" "2014-06-24 21:43:21" "00006" "2021-12-10 21:51:32" "03514" "EPM6" "epilepsy, myoclonic, progressive, type 6 (EPM-6)" "AR" "614018" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04041" "NBIA6" "neurodegeneration, with brain iron accumulation, type 6 (NBIA-6)" "AR" "615643" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06367" "PCH12" "hypoplasia, pontocerebellar, type 12" "AR" "618266" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2022-10-17 11:08:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COASY" "04041" "COASY" "06367" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00017613" "" "" "" "1" "" "00705" "{PMID:Dusi 2014:24360804}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs" "F" "yes" "Italy" "" "0" "" "" "" "" "00017614" "" "" "" "1" "" "00705" "{PMID:Dusi 2014:24360804}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Italy" "" "0" "" "" "Italian" "" "00054881" "" "" "" "1" "" "00006" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "F" "yes" "Australia" "32y" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00017613" "00433" "00017614" "00433" "00054881" "03514" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00433, 03514, 04041, 06367 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000041542" "03514" "00054881" "00006" "Isolated (sporadic)" "" "7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170)" "2y" "" "ataxia" "" "" "" "" "" "" "0000053525" "00433" "00017613" "00705" "Familial, autosomal recessive" "25y" "birth weight: 3,850 g; No history of perinatal complications;Normal early\r\ndevelopmental milestones; 24 months: parents reported gait difficulties and persistent toe walking; 6y: poor academic ability;15y: Normal general physical examination; Mild oro-mandibular dystonia with dysarthria; spastic dystonic paraparesis; still able to walk unaided; IQ ¼ 49; 20y:unable to ambulate independently; 25y: severe spastic bradykinetic-rigid syndrome associated with mild dystonia with distal areflexia in the lower limbs" "" "" "" "" "" "" "" "" "" "0000053526" "00433" "00017614" "00705" "Familial, autosomal recessive" "20y" "born at term of uneventful pregnancy;1y Normal psychomotor development; walking delayed as a result of instability and toe walking; 3y: spastic tetraparesis; moderate mental and language impairment; Disease was progressive, worsening of motor signs in lower limbs; progressive involvement of upper limbs and oro-mandibular region;15y:No independent ambulation; 17y: mild oro-mandibular dystonia with dysarthria; spastic-dystonic tetraparesis with prevalent involvement of lower limbs; parkinsonian features (rigidity and abnormal postural reflexes); Distal amyotrophia; areflexia with pes cavus; Severe cognitive impairment (total IQ < 40); Obsessive-compulsive behavior; complex motor tics; 19y-unchanged neurological picture; Motor axonal neuropathy more prominent in the lower limbs" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017596" "00017613" "1" "00705" "00705" "2014-06-24 14:06:02" "" "" "SEQ" "DNA" "" "" "0000017597" "00017614" "1" "00705" "00705" "2014-06-24 14:52:39" "" "" "SEQ" "DNA" "" "" "0000054833" "00054881" "1" "00006" "00006" "2015-12-01 04:31:33" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000017596" "COASY" "0000017597" "COASY" "0000054833" "COASY" "0000054833" "GOSR2" "0000054833" "KRT16" ## 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 = 44 "{{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}}" "0000037593" "3" "90" "17" "40717686" "40717686" "subst" "2.43819E-5" "00705" "COASY_000002" "g.40717686C>T" "" "{PMID:Dusi 2014:24360804}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42565668C>T" "" "pathogenic" "" "0000037594" "21" "90" "17" "40717686" "40717686" "subst" "2.43819E-5" "00705" "COASY_000002" "g.40717686C>T" "" "{PMID:Dusi 2014:24360804}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42565668C>T" "" "pathogenic" "" "0000037595" "11" "90" "17" "40714815" "40714815" "subst" "0" "00705" "COASY_000003" "g.40714815C>T" "" "{PMID:Dusi 2014:24360804}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42562797C>T" "" "pathogenic" "" "0000084861" "3" "50" "17" "40717819" "40717819" "subst" "5.29032E-5" "00006" "COASY_000001" "g.40717819G>A" "" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "" "" "not associated with disease phenotype" "Germline" "" "" "0" "" "" "g.42565801G>A" "" "VUS" "" "0000249911" "0" "10" "17" "40716520" "40716520" "subst" "0.531982" "02329" "COASY_000006" "g.40716520A>G" "" "" "" "COASY(NM_025233.6):c.972A>G (p.T324=), COASY(NM_025233.7):c.972A>G (p.T324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42564502A>G" "" "benign" "" "0000253135" "0" "10" "17" "40716520" "40716520" "subst" "0.531982" "01943" "COASY_000006" "g.40716520A>G" "" "" "" "COASY(NM_025233.6):c.972A>G (p.T324=), COASY(NM_025233.7):c.972A>G (p.T324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42564502A>G" "" "benign" "" "0000268156" "0" "30" "17" "40717672" "40717672" "subst" "0.0480074" "02329" "COASY_000007" "g.40717672C>G" "" "" "" "COASY(NM_025233.6):c.1486-5C>G, COASY(NM_025233.7):c.1486-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42565654C>G" "" "likely benign" "" "0000268157" "0" "10" "17" "40714804" "40714804" "subst" "0.532777" "02329" "COASY_000004" "g.40714804C>A" "" "" "" "COASY(NM_025233.6):c.164C>A (p.S55Y), COASY(NM_025233.7):c.164C>A (p.S55Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42562786C>A" "" "benign" "" "0000273743" "0" "10" "17" "40717672" "40717672" "subst" "0.0480074" "01943" "COASY_000007" "g.40717672C>G" "" "" "" "COASY(NM_025233.6):c.1486-5C>G, COASY(NM_025233.7):c.1486-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42565654C>G" "" "benign" "" "0000273744" "0" "10" "17" "40714804" "40714804" "subst" "0.532777" "01943" "COASY_000004" "g.40714804C>A" "" "" "" "COASY(NM_025233.6):c.164C>A (p.S55Y), COASY(NM_025233.7):c.164C>A (p.S55Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42562786C>A" "" "benign" "" "0000273745" "0" "30" "17" "40715084" "40715084" "subst" "0.000389921" "01943" "COASY_000005" "g.40715084C>G" "" "" "" "COASY(NM_025233.6):c.444C>G (p.A148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42563066C>G" "" "likely benign" "" "0000291909" "0" "50" "17" "40719272" "40719272" "subst" "6.6158E-5" "01943" "MLX_000001" "g.40719272C>G" "" "" "" "MLX(NM_170607.2):c.130C>G (p.L44V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42567254C>G" "" "VUS" "" "0000561514" "0" "10" "17" "40714665" "40714665" "subst" "0.00352411" "01943" "COASY_000010" "g.40714665C>T" "" "" "" "COASY(NM_025233.6):c.25C>T (p.L9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42562647C>T" "" "benign" "" "0000561515" "0" "50" "17" "40714731" "40714731" "subst" "0" "01943" "COASY_000011" "g.40714731C>T" "" "" "" "COASY(NM_025233.6):c.91C>T (p.R31W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42562713C>T" "" "VUS" "" "0000561516" "0" "50" "17" "40714846" "40714846" "subst" "0.000345736" "01804" "COASY_000012" "g.40714846C>T" "" "" "" "COASY(NM_025233.6):c.206C>T (p.T69M, p.(Thr69Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42562828C>T" "" "VUS" "" "0000561517" "0" "50" "17" "40714851" "40714851" "subst" "7.31987E-5" "01943" "COASY_000013" "g.40714851C>T" "" "" "" "COASY(NM_025233.6):c.211C>T (p.L71F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42562833C>T" "" "VUS" "" "0000561518" "0" "50" "17" "40714863" "40714863" "subst" "0" "01943" "COASY_000014" "g.40714863G>C" "" "" "" "COASY(NM_025233.6):c.223G>C (p.A75P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42562845G>C" "" "VUS" "" "0000561519" "0" "30" "17" "40715042" "40715042" "subst" "1.21824E-5" "01943" "COASY_000015" "g.40715042G>T" "" "" "" "COASY(NM_025233.6):c.402G>T (p.V134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42563024G>T" "" "likely benign" "" "0000561520" "0" "50" "17" "40716017" "40716017" "subst" "2.84764E-5" "01804" "COASY_000016" "g.40716017C>T" "" "" "" "COASY(NM_001042529.2):c.739C>T (p.(Arg247Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42563999C>T" "" "VUS" "" "0000561521" "0" "50" "17" "40716056" "40716056" "subst" "3.65562E-5" "01943" "COASY_000017" "g.40716056C>T" "" "" "" "COASY(NM_025233.6):c.778C>T (p.P260S), COASY(NM_025233.7):c.778C>T (p.P260S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42564038C>T" "" "VUS" "" "0000561522" "0" "50" "17" "40716080" "40716080" "subst" "0.000272099" "01943" "COASY_000018" "g.40716080C>T" "" "" "" "COASY(NM_025233.6):c.802C>T (p.P268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42564062C>T" "" "VUS" "" "0000561523" "0" "30" "17" "40716103" "40716103" "subst" "0.000170601" "01943" "COASY_000019" "g.40716103C>A" "" "" "" "COASY(NM_025233.6):c.825C>A (p.P275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42564085C>A" "" "likely benign" "" "0000561525" "0" "30" "17" "40716564" "40716564" "subst" "2.44379E-5" "01804" "COASY_000021" "g.40716564G>A" "" "" "" "COASY(NM_001042529.2):c.1016G>A (p.(Arg339Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42564546G>A" "" "likely benign" "" "0000561526" "0" "50" "17" "40716862" "40716862" "subst" "0.000569651" "01943" "COASY_000022" "g.40716862G>A" "" "" "" "COASY(NM_025233.6):c.1183G>A (p.A395T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42564844G>A" "" "VUS" "" "0000561529" "0" "30" "17" "40717819" "40717819" "subst" "5.29032E-5" "01943" "COASY_000001" "g.40717819G>A" "" "" "" "COASY(NM_025233.6):c.1628G>A (p.R543H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42565801G>A" "" "likely benign" "" "0000616555" "0" "50" "17" "40715116" "40715118" "del" "0" "01943" "COASY_000024" "g.40715116_40715118del" "" "" "" "COASY(NM_025233.6):c.476_478delGAG (p.G159del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42563098_42563100del" "" "VUS" "" "0000692340" "0" "30" "17" "40714461" "40714461" "subst" "1.62798E-5" "01943" "COASY_000025" "g.40714461G>A" "" "" "" "COASY(NM_001042532.3):c.32G>A (p.R11Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726368" "0" "50" "17" "40714753" "40714753" "subst" "3.37462E-5" "01943" "COASY_000026" "g.40714753A>G" "" "" "" "COASY(NM_025233.6):c.113A>G (p.Y38C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726369" "0" "50" "17" "40714846" "40714846" "subst" "0.000345736" "01943" "COASY_000012" "g.40714846C>T" "" "" "" "COASY(NM_025233.6):c.206C>T (p.T69M, p.(Thr69Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726370" "0" "50" "17" "40716485" "40716485" "subst" "4.06075E-6" "02329" "COASY_000027" "g.40716485T>A" "" "" "" "COASY(NM_025233.7):c.937T>A (p.Y313N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726371" "0" "70" "17" "40717504" "40717505" "dup" "0" "02329" "COASY_000023" "g.40717504_40717505dup" "" "" "" "COASY(NM_025233.7):c.1403_1404dupTG (p.I469*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726372" "0" "50" "17" "40717674" "40717674" "subst" "8.5345E-5" "02329" "COASY_000008" "g.40717674C>G" "" "" "" "COASY(NM_025233.7):c.1486-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726373" "0" "50" "17" "40717740" "40717741" "del" "0" "02329" "COASY_000009" "g.40717740_40717741del" "" "" "" "COASY(NM_025233.7):c.1549_1550delAG (p.S517Pfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807966" "0" "30" "17" "40716828" "40716828" "subst" "2.04048E-5" "01943" "COASY_000028" "g.40716828G>A" "" "" "" "COASY(NM_025233.6):c.1149G>A (p.A383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807967" "0" "50" "17" "40716917" "40716917" "subst" "2.44918E-5" "01943" "COASY_000029" "g.40716917G>C" "" "" "" "COASY(NM_025233.6):c.1237+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854894" "0" "30" "17" "40715113" "40715113" "subst" "4.06375E-6" "01943" "COASY_000030" "g.40715113T>C" "" "" "" "COASY(NM_025233.6):c.473T>C (p.I158T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865249" "0" "30" "17" "40716480" "40716480" "subst" "0.000203046" "01943" "COASY_000031" "g.40716480C>T" "" "" "" "COASY(NM_025233.6):c.932C>T (p.A311V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914820" "0" "50" "17" "40716056" "40716056" "subst" "3.65562E-5" "02329" "COASY_000017" "g.40716056C>T" "" "" "" "COASY(NM_025233.6):c.778C>T (p.P260S), COASY(NM_025233.7):c.778C>T (p.P260S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950876" "0" "50" "17" "40722187" "40722187" "subst" "0" "02325" "COASY_000032" "g.40722187C>T" "" "" "" "MLX(NM_170607.3):c.826C>T (p.H276Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982501" "0" "30" "17" "40717073" "40717073" "subst" "4.06085E-6" "01804" "COASY_000033" "g.40717073A>G" "" "" "" "COASY(NM_025233.7):c.1302+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982502" "0" "50" "17" "40717823" "40717823" "subst" "0" "01804" "COASY_000034" "g.40717823G>C" "" "" "" "COASY(NM_025233.7):c.1632G>C (p.(Gln544His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041854" "0" "30" "17" "40715969" "40715969" "subst" "1.28589E-5" "01804" "COASY_000035" "g.40715969C>T" "" "" "" "COASY(NM_025233.7):c.701-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041855" "0" "70" "17" "40717487" "40717487" "subst" "0.000125922" "01804" "COASY_000036" "g.40717487A>G" "" "" "" "COASY(NM_025233.7):c.1388-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041856" "0" "50" "17" "40717732" "40717732" "subst" "2.03219E-5" "01804" "COASY_000037" "g.40717732G>A" "" "" "" "COASY(NM_025233.7):c.1541G>A (p.(Arg514Gln))" "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 COASY ## Count = 44 "{{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}}" "0000037593" "00005442" "90" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Cys)" "8" "0000037594" "00005442" "90" "1495" "0" "1495" "0" "c.1495C>T" "r.(?)" "p.(Arg499Cys)" "8" "0000037595" "00005442" "90" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Gln59*)" "1" "0000084861" "00005442" "50" "1628" "0" "1628" "0" "c.1628G>A" "r.(?)" "p.(Arg543His)" "8" "0000249911" "00005442" "10" "972" "0" "972" "0" "c.972A>G" "r.(?)" "p.(Thr324=)" "" "0000253135" "00005442" "10" "972" "0" "972" "0" "c.972A>G" "r.(?)" "p.(Thr324=)" "" "0000268156" "00005442" "30" "1486" "-5" "1486" "-5" "c.1486-5C>G" "r.spl?" "p.?" "" "0000268157" "00005442" "10" "164" "0" "164" "0" "c.164C>A" "r.(?)" "p.(Ser55Tyr)" "" "0000273743" "00005442" "10" "1486" "-5" "1486" "-5" "c.1486-5C>G" "r.spl?" "p.?" "" "0000273744" "00005442" "10" "164" "0" "164" "0" "c.164C>A" "r.(?)" "p.(Ser55Tyr)" "" "0000273745" "00005442" "30" "444" "0" "444" "0" "c.444C>G" "r.(?)" "p.(Ala148=)" "" "0000291909" "00005442" "50" "2981" "0" "2981" "0" "c.*1286C>G" "r.(=)" "p.(=)" "" "0000561514" "00005442" "10" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Leu9=)" "" "0000561515" "00005442" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Trp)" "" "0000561516" "00005442" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Thr69Met)" "" "0000561517" "00005442" "50" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Leu71Phe)" "" "0000561518" "00005442" "50" "223" "0" "223" "0" "c.223G>C" "r.(?)" "p.(Ala75Pro)" "" "0000561519" "00005442" "30" "402" "0" "402" "0" "c.402G>T" "r.(?)" "p.(Val134=)" "" "0000561520" "00005442" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Cys)" "" "0000561521" "00005442" "50" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Pro260Ser)" "" "0000561522" "00005442" "50" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Pro268Ser)" "" "0000561523" "00005442" "30" "825" "0" "825" "0" "c.825C>A" "r.(?)" "p.(Pro275=)" "" "0000561525" "00005442" "30" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "" "0000561526" "00005442" "50" "1183" "0" "1183" "0" "c.1183G>A" "r.(?)" "p.(Ala395Thr)" "" "0000561529" "00005442" "30" "1628" "0" "1628" "0" "c.1628G>A" "r.(?)" "p.(Arg543His)" "" "0000616555" "00005442" "50" "476" "0" "478" "0" "c.476_478del" "r.(?)" "p.(Gly159del)" "" "0000692340" "00005442" "30" "-180" "0" "-180" "0" "c.-180G>A" "r.(?)" "p.(=)" "" "0000726368" "00005442" "50" "113" "0" "113" "0" "c.113A>G" "r.(?)" "p.(Tyr38Cys)" "" "0000726369" "00005442" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Thr69Met)" "" "0000726370" "00005442" "50" "937" "0" "937" "0" "c.937T>A" "r.(?)" "p.(Tyr313Asn)" "" "0000726371" "00005442" "70" "1403" "0" "1404" "0" "c.1403_1404dup" "r.(?)" "p.(Ile469Ter)" "" "0000726372" "00005442" "50" "1486" "-3" "1486" "-3" "c.1486-3C>G" "r.spl?" "p.?" "" "0000726373" "00005442" "50" "1549" "0" "1550" "0" "c.1549_1550del" "r.(?)" "p.(Ser517ProfsTer61)" "" "0000807966" "00005442" "30" "1149" "0" "1149" "0" "c.1149G>A" "r.(?)" "p.(Ala383=)" "" "0000807967" "00005442" "50" "1237" "1" "1237" "1" "c.1237+1G>C" "r.spl?" "p.?" "" "0000854894" "00005442" "30" "473" "0" "473" "0" "c.473T>C" "r.(?)" "p.(Ile158Thr)" "" "0000865249" "00005442" "30" "932" "0" "932" "0" "c.932C>T" "r.(?)" "p.(Ala311Val)" "" "0000914820" "00005442" "50" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Pro260Ser)" "" "0000950876" "00005442" "50" "5896" "0" "5896" "0" "c.*4201C>T" "r.(=)" "p.(=)" "" "0000982501" "00005442" "30" "1302" "8" "1302" "8" "c.1302+8A>G" "r.(=)" "p.(=)" "" "0000982502" "00005442" "50" "1632" "0" "1632" "0" "c.1632G>C" "r.(?)" "p.(Gln544His)" "" "0001041854" "00005442" "30" "701" "-10" "701" "-10" "c.701-10C>T" "r.(=)" "p.(=)" "" "0001041855" "00005442" "70" "1388" "-2" "1388" "-2" "c.1388-2A>G" "r.spl?" "p.?" "" "0001041856" "00005442" "50" "1541" "0" "1541" "0" "c.1541G>A" "r.(?)" "p.(Arg514Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000017596" "0000037593" "0000017597" "0000037594" "0000017597" "0000037595" "0000054833" "0000084861"