### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ADCK3)
# 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}}"
"ADCK3" "aarF domain containing kinase 3" "1" "q42.11" "unknown" "NC_000001.10" "UD_132118290892" "" "http://www.LOVD.nl/C08QA" "" "1" "16812" "56997" "606980" "1" "1" "1" "1" "NOTE: gene symbol was recently changed from ADCK3 to COQ8A.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ADCK3_codingDNA.html" "1" "" "NOTE: gene symbol was recently changed from ADCK3 to COQ8A." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-11-24 11:41:26" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00002125" "ADCK3" "aarF domain containing kinase 3" "001" "NM_020247.4" "" "NP_064632.2" "" "" "" "-172" "2752" "1944" "227127938" "227175246" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25"
"02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03079" "COQ10D4;SCAR9" "coenzyme Q10 deficiency, primary, type 4" "AR" "612016" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-08 09:21:06"
"05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" ""
"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}}"
"ADCK3" "00139"
"ADCK3" "03079"
## Individuals ## Do not remove or alter this header ##
## Count = 15
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00080798" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier mother" "" "" "" "" "0" "" "" "" ""
"00080967" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" ""
"00081064" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" ""
"00154963" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" ""
"00181151" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "41637"
"00207944" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" ""
"00225676" "" "" "" "1" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam09DG00930"
"00265599" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00274189" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "M" "" "Poland" "" "0" "" "" "" "Pat61"
"00289745" "" "" "" "58" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00307150" "" "" "" "2" "" "00006" "{PMID:Krygier 2019:30548255}" "2-generation family, affected male twins, unaffected heterozygous carrier parents" "M" "" "Poland" "" "0" "" "" "" "Pat9"
"00375643" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat18"
"00431865" "" "" "" "1" "" "01602" "" "" "F" "" "Switzerland" "00y09m" "" "" "" "Europe" "SIDS022"
"00440358" "" "" "" "1" "" "00006" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "M" "" "France" "" "0" "" "" "" "Pat42;PED2037.1"
"00440454" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3374.1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 14
"{{individualid}}" "{{diseaseid}}"
"00080798" "03079"
"00080967" "03079"
"00081064" "03079"
"00154963" "00198"
"00181151" "00344"
"00225676" "00198"
"00265599" "00198"
"00274189" "00198"
"00289745" "00198"
"00307150" "05356"
"00375643" "00198"
"00431865" "02087"
"00440358" "05611"
"00440454" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 02087, 03079, 05356, 05611
## Count = 14
"{{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}}"
"0000060367" "03079" "00080798" "01758" "Familial, autosomal recessive" "" "Coenzyme Q10 deficiency, primary, 4 (OMIM:612016)" "" "" "" "" "" "" "" "" "" "" ""
"0000060536" "03079" "00080967" "01758" "Familial, autosomal recessive" "" "Coenzyme Q10 deficiency, primary, 4 (OMIM:612016)" "" "" "" "" "" "" "" "" "" "" ""
"0000060633" "03079" "00081064" "01758" "Familial, autosomal recessive" "" "Coenzyme Q10 deficiency, primary, 4 (OMIM:612016)" "" "" "" "" "" "" "" "" "" "" ""
"0000127695" "00198" "00154963" "01807" "Unknown" "" "Limb ataxia (HP:0002070); Gait ataxia (HP:0002066); Cerebellar atrophy (HP:0001272)" "" "" "" "" "" "" "" "" "" "" ""
"0000143996" "00344" "00181151" "02552" "Isolated (sporadic)" "" "" "01y00m" "" "" "" "" "" "" "" "" "" ""
"0000155716" "00198" "00207944" "01164" "Unknown" "" "HP:0012638 (Abnormality of nervous system physiology); HP:0003201 (Rhabdomyolysis); HP:0100753 (Schizophrenia); HP:0011805 (Abnormality of muscle morphology)" "" "" "" "" "" "" "" "" "" "" ""
"0000170782" "00198" "00225676" "00006" "Familial, autosomal recessive" "" "see paper; …, isolated cerebellar hypoplasia" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" ""
"0000203386" "00198" "00265599" "01807" "Unknown" "" "Ataxia (HP:0001251); Intellectual disability, mild (HP:0001256)" "" "" "" "" "" "" "" "" "" "" ""
"0000209134" "00198" "00274189" "00006" "Familial, autosomal recessive" "" "deceased; mitochondrial disease criteria score 8; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" ""
"0000232955" "05356" "00307150" "00006" "Familial, autosomal recessive" "27y" "generalized dystonia, tremor, cognitive decline, increased serum lactate; MRI brain cerebellar atrophy" "14y" "" "" "" "" "" "" "" "" "ataxia" ""
"0000270856" "00198" "00375643" "00006" "Familial, autosomal recessive" "" "progressive; intellectual disability/developmental delay; seizures; dysarthria; hypotonia, tremor, ataxia, dysmetria, broad-based gait; MRI brain cerebellar atrophy" "" "11y" "" "" "" "" "" "" "" "" ""
"0000322434" "02087" "00431865" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" ""
"0000330268" "05611" "00440358" "00006" "Familial, autosomal recessive" "5y" "epilepsy; epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000330364" "00198" "00440454" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Primary coenzyme Q10 deficiency-4 (MIM #612016)" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 16
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000080910" "00080798" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000081079" "00080967" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000081176" "00081064" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000155825" "00154963" "0" "01807" "01807" "2018-03-07 04:00:41" "" "" "SEQ" "DNA" "" ""
"0000155826" "00154963" "0" "01807" "01807" "2018-03-07 04:00:41" "" "" "SEQ" "DNA" "" ""
"0000182109" "00181151" "1" "02552" "02552" "2018-10-02 12:04:43" "" "" "SEQ-NG-I" "DNA" "blood" "WES"
"0000208989" "00207944" "1" "01164" "01164" "2018-12-04 16:33:41" "" "" "SEQ-NG" "DNA" "" ""
"0000226743" "00225676" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000266722" "00265599" "1" "01807" "01807" "2019-09-27 09:57:29" "" "" "SEQ" "DNA" "" ""
"0000275344" "00274189" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000290913" "00289745" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000308292" "00307150" "1" "00006" "00006" "2020-08-05 09:46:14" "" "" "SEQ" "DNA" "" ""
"0000376840" "00375643" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000433304" "00431865" "1" "01602" "01602" "2023-02-17 11:17:34" "" "" "SEQ-NG" "DNA" "" ""
"0000441843" "00440358" "1" "00006" "00006" "2023-11-02 11:20:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000441939" "00440454" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{geneid}}"
"0000080910" "ADCK3"
"0000081079" "ADCK3"
"0000081176" "ADCK3"
"0000226743" "ADCK3"
"0000275344" "ADCK3"
"0000308292" "ADCK3"
## 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 = 136
"{{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}}"
"0000129987" "21" "90" "1" "227174244" "227174246" "del" "0" "01758" "ADCK3_000002" "g.227174244_227174246del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.226986543_226986545del" "" "pathogenic" "ACMG"
"0000129988" "11" "90" "1" "227174299" "227174299" "subst" "3.24873E-5" "01758" "ADCK3_000001" "g.227174299C>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.226986598C>G" "" "pathogenic" "ACMG"
"0000130165" "3" "70" "1" "227169811" "227169811" "subst" "0" "01758" "ADCK3_000003" "g.227169811G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.226982110G>T" "" "likely pathogenic" "ACMG"
"0000130262" "3" "70" "1" "227169812" "227169812" "subst" "0" "01758" "ADCK3_000004" "g.227169812G>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.226982111G>C" "" "likely pathogenic" "ACMG"
"0000254607" "0" "30" "1" "227170704" "227170704" "subst" "0.000356566" "01943" "ADCK3_000038" "g.227170704A>G" "" "" "" "ADCK3(NM_020247.4):c.1049A>G (p.K350R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226983003A>G" "" "likely benign" ""
"0000257349" "0" "10" "1" "227170708" "227170708" "subst" "0.0111777" "02330" "ADCK3_000018" "g.227170708C>T" "" "" "" "COQ8A(NM_020247.4):c.1053C>T (p.G351=), COQ8A(NM_020247.5):c.1053C>T (p.G351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226983007C>T" "" "benign" ""
"0000257350" "0" "10" "1" "227149203" "227149203" "subst" "0.165116" "02330" "ADCK3_000007" "g.227149203G>A" "" "" "" "COQ8A(NM_020247.4):c.117G>A (p.A39=), COQ8A(NM_020247.5):c.117G>A (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226961502G>A" "" "benign" ""
"0000257351" "0" "10" "1" "227171484" "227171484" "subst" "0.00510913" "02330" "ADCK3_000020" "g.227171484C>T" "" "" "" "COQ8A(NM_020247.4):c.1185C>T (p.I395=), COQ8A(NM_020247.5):c.1185C>T (p.I395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226983783C>T" "" "benign" ""
"0000257352" "0" "10" "1" "227171487" "227171487" "subst" "0.000396637" "02330" "ADCK3_000021" "g.227171487C>T" "" "" "" "COQ8A(NM_020247.4):c.1188C>T (p.D396=), COQ8A(NM_020247.5):c.1188C>T (p.D396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226983786C>T" "" "benign" ""
"0000257353" "0" "10" "1" "227172290" "227172290" "subst" "0.353607" "02330" "ADCK3_000023" "g.227172290C>T" "" "" "" "COQ8A(NM_020247.4):c.1440C>T (p.F480=), COQ8A(NM_020247.5):c.1440C>T (p.F480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226984589C>T" "" "benign" ""
"0000257354" "0" "10" "1" "227172935" "227172935" "subst" "0.362352" "02330" "ADCK3_000025" "g.227172935C>G" "" "" "" "ADCK3(NM_020247.4):c.1573-20C>G, COQ8A(NM_020247.5):c.1573-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226985234C>G" "" "benign" ""
"0000257355" "0" "10" "1" "227174145" "227174145" "subst" "0.410154" "02330" "ADCK3_000026" "g.227174145T>C" "" "" "" "ADCK3(NM_020247.4):c.1660-9T>C, COQ8A(NM_020247.5):c.1660-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986444T>C" "" "benign" ""
"0000257356" "0" "10" "1" "227174210" "227174210" "subst" "0.403296" "02330" "ADCK3_000028" "g.227174210T>C" "" "" "" "COQ8A(NM_020247.4):c.1716T>C (p.S572=), COQ8A(NM_020247.5):c.1716T>C (p.S572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986509T>C" "" "benign" ""
"0000257357" "0" "10" "1" "227149149" "227149149" "subst" "0.0115632" "02330" "ADCK3_000005" "g.227149149G>A" "" "" "" "COQ8A(NM_020247.4):c.63G>A (p.A21=), COQ8A(NM_020247.5):c.63G>A (p.A21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226961448G>A" "" "benign" ""
"0000258725" "0" "10" "1" "227149203" "227149203" "subst" "0.165116" "02325" "ADCK3_000007" "g.227149203G>A" "" "" "" "COQ8A(NM_020247.4):c.117G>A (p.A39=), COQ8A(NM_020247.5):c.117G>A (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226961502G>A" "" "benign" ""
"0000258726" "0" "10" "1" "227172290" "227172290" "subst" "0.353607" "02325" "ADCK3_000023" "g.227172290C>T" "" "" "" "COQ8A(NM_020247.4):c.1440C>T (p.F480=), COQ8A(NM_020247.5):c.1440C>T (p.F480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226984589C>T" "" "benign" ""
"0000258727" "0" "10" "1" "227172935" "227172935" "subst" "0.362352" "02325" "ADCK3_000025" "g.227172935C>G" "" "" "" "ADCK3(NM_020247.4):c.1573-20C>G, COQ8A(NM_020247.5):c.1573-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226985234C>G" "" "benign" ""
"0000258728" "0" "10" "1" "227174145" "227174145" "subst" "0.410154" "02325" "ADCK3_000026" "g.227174145T>C" "" "" "" "ADCK3(NM_020247.4):c.1660-9T>C, COQ8A(NM_020247.5):c.1660-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986444T>C" "" "benign" ""
"0000258729" "0" "10" "1" "227174210" "227174210" "subst" "0.403296" "02325" "ADCK3_000028" "g.227174210T>C" "" "" "" "COQ8A(NM_020247.4):c.1716T>C (p.S572=), COQ8A(NM_020247.5):c.1716T>C (p.S572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986509T>C" "" "benign" ""
"0000259311" "0" "30" "1" "227171484" "227171484" "subst" "0.00510913" "02325" "ADCK3_000020" "g.227171484C>T" "" "" "" "COQ8A(NM_020247.4):c.1185C>T (p.I395=), COQ8A(NM_020247.5):c.1185C>T (p.I395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226983783C>T" "" "likely benign" ""
"0000259421" "0" "30" "1" "227153087" "227153087" "subst" "2.96545E-5" "02325" "ADCK3_000013" "g.227153087C>T" "" "" "" "COQ8A(NM_020247.4):c.564C>T (p.P188=), COQ8A(NM_020247.5):c.564C>T (p.P188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226965386C>T" "" "likely benign" ""
"0000259719" "0" "70" "1" "227174159" "227174159" "subst" "0.000122659" "02325" "ADCK3_000027" "g.227174159G>A" "" "" "" "COQ8A(NM_020247.5):c.1665G>A (p.M555I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986458G>A" "" "likely pathogenic" ""
"0000259736" "0" "90" "1" "227170420" "227170420" "subst" "2.84532E-5" "02325" "ADCK3_000015" "g.227170420C>T" "" "" "" "COQ8A(NM_020247.5):c.895C>T (p.R299W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226982719C>T" "" "pathogenic" ""
"0000260032" "0" "90" "1" "227170697" "227170697" "subst" "4.15797E-5" "02329" "ADCK3_000017" "g.227170697C>T" "" "" "" "ADCK3(NM_020247.4):c.1042C>T (p.(Arg348*)), COQ8A(NM_020247.4):c.1042C>T (p.R348*), COQ8A(NM_020247.5):c.1042C>T (p.R348*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226982996C>T" "" "pathogenic" ""
"0000261973" "0" "30" "1" "227170708" "227170708" "subst" "0.0111777" "01943" "ADCK3_000018" "g.227170708C>T" "" "" "" "COQ8A(NM_020247.4):c.1053C>T (p.G351=), COQ8A(NM_020247.5):c.1053C>T (p.G351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226983007C>T" "" "likely benign" ""
"0000261974" "0" "10" "1" "227149203" "227149203" "subst" "0.165116" "01943" "ADCK3_000007" "g.227149203G>A" "" "" "" "COQ8A(NM_020247.4):c.117G>A (p.A39=), COQ8A(NM_020247.5):c.117G>A (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226961502G>A" "" "benign" ""
"0000261975" "0" "10" "1" "227172290" "227172290" "subst" "0.353607" "01943" "ADCK3_000023" "g.227172290C>T" "" "" "" "COQ8A(NM_020247.4):c.1440C>T (p.F480=), COQ8A(NM_020247.5):c.1440C>T (p.F480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226984589C>T" "" "benign" ""
"0000261976" "0" "30" "1" "227172935" "227172935" "subst" "0.362352" "01943" "ADCK3_000025" "g.227172935C>G" "" "" "" "ADCK3(NM_020247.4):c.1573-20C>G, COQ8A(NM_020247.5):c.1573-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226985234C>G" "" "likely benign" ""
"0000261977" "0" "10" "1" "227174145" "227174145" "subst" "0.410154" "01943" "ADCK3_000026" "g.227174145T>C" "" "" "" "ADCK3(NM_020247.4):c.1660-9T>C, COQ8A(NM_020247.5):c.1660-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986444T>C" "" "benign" ""
"0000261978" "0" "10" "1" "227174210" "227174210" "subst" "0.403296" "01943" "ADCK3_000028" "g.227174210T>C" "" "" "" "COQ8A(NM_020247.4):c.1716T>C (p.S572=), COQ8A(NM_020247.5):c.1716T>C (p.S572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986509T>C" "" "benign" ""
"0000261979" "0" "30" "1" "227174408" "227174408" "subst" "0.00663787" "01943" "ADCK3_000030" "g.227174408C>T" "" "" "" "COQ8A(NM_020247.4):c.1914C>T (p.S638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986707C>T" "" "likely benign" ""
"0000261980" "0" "30" "1" "227152761" "227152761" "subst" "0.00643364" "01943" "ADCK3_000008" "g.227152761C>T" "" "" "" "ADCK3(NM_020247.4):c.238C>T (p.H80Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226965060C>T" "" "likely benign" ""
"0000261981" "0" "10" "1" "227152778" "227152778" "subst" "0.0157372" "01943" "ADCK3_000009" "g.227152778T>G" "" "" "" "ADCK3(NM_020247.4):c.255T>G (p.H85Q, p.(His85Gln)), COQ8A(NM_020247.5):c.255T>G (p.H85Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226965077T>G" "" "benign" ""
"0000261982" "0" "10" "1" "227149149" "227149149" "subst" "0.0115632" "01943" "ADCK3_000005" "g.227149149G>A" "" "" "" "COQ8A(NM_020247.4):c.63G>A (p.A21=), COQ8A(NM_020247.5):c.63G>A (p.A21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226961448G>A" "" "benign" ""
"0000261983" "0" "10" "1" "227153447" "227153447" "subst" "0.00142426" "01943" "ADCK3_000014" "g.227153447G>A" "" "" "" "ADCK3(NM_020247.4):c.655+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226965746G>A" "" "benign" ""
"0000261984" "0" "30" "1" "227149164" "227149164" "subst" "0.000463132" "01943" "ADCK3_000006" "g.227149164C>T" "" "" "" "COQ8A(NM_020247.4):c.78C>T (p.H26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226961463C>T" "" "likely benign" ""
"0000274337" "0" "30" "1" "227171484" "227171484" "subst" "0.00510913" "01943" "ADCK3_000020" "g.227171484C>T" "" "" "" "COQ8A(NM_020247.4):c.1185C>T (p.I395=), COQ8A(NM_020247.5):c.1185C>T (p.I395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226983783C>T" "" "likely benign" ""
"0000274338" "0" "30" "1" "227152821" "227152821" "subst" "0.000617545" "01943" "ADCK3_000010" "g.227152821G>T" "" "" "" "COQ8A(NM_020247.4):c.298G>T (p.D100Y), COQ8A(NM_020247.5):c.298G>T (p.D100Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226965120G>T" "" "likely benign" ""
"0000274339" "0" "30" "1" "227152907" "227152907" "subst" "0.000801341" "01943" "ADCK3_000011" "g.227152907C>T" "" "" "" "COQ8A(NM_020247.4):c.384C>T (p.A128=), COQ8A(NM_020247.5):c.384C>T (p.A128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226965206C>T" "" "likely benign" ""
"0000274340" "0" "30" "1" "227152908" "227152908" "subst" "0.000294161" "01943" "ADCK3_000012" "g.227152908G>A" "" "" "" "COQ8A(NM_020247.4):c.385G>A (p.G129R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226965207G>A" "" "likely benign" ""
"0000274341" "0" "30" "1" "227153087" "227153087" "subst" "2.96545E-5" "01943" "ADCK3_000013" "g.227153087C>T" "" "" "" "COQ8A(NM_020247.4):c.564C>T (p.P188=), COQ8A(NM_020247.5):c.564C>T (p.P188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226965386C>T" "" "likely benign" ""
"0000274342" "0" "50" "1" "227170648" "227170648" "subst" "0.0158704" "01943" "ADCK3_000016" "g.227170648C>T" "" "" "" "COQ8A(NM_020247.4):c.993C>T (p.F331=), COQ8A(NM_020247.5):c.993C>T (p.F331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226982947C>T" "" "VUS" ""
"0000297417" "0" "30" "1" "227081811" "227081811" "subst" "0.00121915" "02325" "PSEN2_000068" "g.227081811C>T" "" "" "" "PSEN2(NM_000447.3):c.1176C>T (p.F392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226894110C>T" "" "likely benign" ""
"0000306542" "0" "30" "1" "227081802" "227081802" "subst" "1.6252E-5" "01943" "PSEN2_000067" "g.227081802G>A" "" "" "" "PSEN2(NM_000447.2):c.1167G>A (p.L389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226894101G>A" "" "likely benign" ""
"0000306543" "0" "50" "1" "227083143" "227083143" "subst" "4.07266E-6" "01943" "PSEN2_000069" "g.227083143C>G" "" "" "" "PSEN2(NM_000447.2):c.1210C>G (p.L404V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226895442C>G" "" "VUS" ""
"0000321316" "0" "90" "1" "227170697" "227170697" "subst" "4.15797E-5" "01804" "ADCK3_000017" "g.227170697C>T" "" "" "" "ADCK3(NM_020247.4):c.1042C>T (p.(Arg348*)), COQ8A(NM_020247.4):c.1042C>T (p.R348*), COQ8A(NM_020247.5):c.1042C>T (p.R348*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226982996C>T" "" "pathogenic" ""
"0000321317" "0" "50" "1" "227170737" "227170737" "subst" "0" "01804" "ADCK3_000019" "g.227170737T>C" "" "" "" "ADCK3(NM_020247.4):c.1080+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226983036T>C" "" "VUS" ""
"0000321318" "0" "50" "1" "227171527" "227171527" "subst" "1.64409E-5" "01804" "ADCK3_000022" "g.227171527C>T" "" "" "" "ADCK3(NM_020247.4):c.1228C>T (p.(Arg410Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226983826C>T" "" "VUS" ""
"0000321320" "0" "50" "1" "227174287" "227174287" "subst" "0" "01804" "ADCK3_000029" "g.227174287G>A" "" "" "" "ADCK3(NM_020247.4):c.1793G>A (p.(Arg598His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986586G>A" "" "VUS" ""
"0000337537" "0" "10" "1" "227172935" "227172935" "subst" "0.362352" "02327" "ADCK3_000025" "g.227172935C>G" "" "" "" "ADCK3(NM_020247.4):c.1573-20C>G, COQ8A(NM_020247.5):c.1573-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226985234C>G" "" "benign" ""
"0000337538" "0" "10" "1" "227174145" "227174145" "subst" "0.410154" "02327" "ADCK3_000026" "g.227174145T>C" "" "" "" "ADCK3(NM_020247.4):c.1660-9T>C, COQ8A(NM_020247.5):c.1660-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986444T>C" "" "benign" ""
"0000339693" "0" "10" "1" "227149203" "227149203" "subst" "0.165116" "02327" "ADCK3_000007" "g.227149203G>A" "" "" "" "COQ8A(NM_020247.4):c.117G>A (p.A39=), COQ8A(NM_020247.5):c.117G>A (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226961502G>A" "" "benign" ""
"0000339694" "0" "10" "1" "227172290" "227172290" "subst" "0.353607" "02327" "ADCK3_000023" "g.227172290C>T" "" "" "" "COQ8A(NM_020247.4):c.1440C>T (p.F480=), COQ8A(NM_020247.5):c.1440C>T (p.F480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226984589C>T" "" "benign" ""
"0000339695" "0" "10" "1" "227174210" "227174210" "subst" "0.403296" "02327" "ADCK3_000028" "g.227174210T>C" "" "" "" "COQ8A(NM_020247.4):c.1716T>C (p.S572=), COQ8A(NM_020247.5):c.1716T>C (p.S572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986509T>C" "" "benign" ""
"0000340622" "0" "10" "1" "227152907" "227152907" "subst" "0.000801341" "02327" "ADCK3_000011" "g.227152907C>T" "" "" "" "COQ8A(NM_020247.4):c.384C>T (p.A128=), COQ8A(NM_020247.5):c.384C>T (p.A128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226965206C>T" "" "benign" ""
"0000340826" "0" "10" "1" "227171484" "227171484" "subst" "0.00510913" "02327" "ADCK3_000020" "g.227171484C>T" "" "" "" "COQ8A(NM_020247.4):c.1185C>T (p.I395=), COQ8A(NM_020247.5):c.1185C>T (p.I395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226983783C>T" "" "benign" ""
"0000342698" "0" "90" "1" "227170697" "227170697" "subst" "4.15797E-5" "02327" "ADCK3_000017" "g.227170697C>T" "" "" "" "ADCK3(NM_020247.4):c.1042C>T (p.(Arg348*)), COQ8A(NM_020247.4):c.1042C>T (p.R348*), COQ8A(NM_020247.5):c.1042C>T (p.R348*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226982996C>T" "" "pathogenic" ""
"0000345479" "0" "90" "1" "227174196" "227174196" "subst" "4.06934E-6" "02327" "ADCK3_000033" "g.227174196G>T" "" "" "" "COQ8A(NM_020247.4):c.1702G>T (p.E568*), COQ8A(NM_020247.5):c.1702G>T (p.(Glu568Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986495G>T" "" "pathogenic" ""
"0000347260" "0" "50" "1" "227174362" "227174362" "subst" "0" "02327" "ADCK3_000036" "g.227174362T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986661T>G" "" "VUS" ""
"0000347863" "0" "50" "1" "227174159" "227174159" "subst" "0.000122659" "02327" "ADCK3_000027" "g.227174159G>A" "" "" "" "COQ8A(NM_020247.5):c.1665G>A (p.M555I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226986458G>A" "" "VUS" ""
"0000349545" "0" "50" "1" "227172602" "227172602" "subst" "4.87322E-5" "02327" "ADCK3_000031" "g.227172602C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226984901C>T" "" "VUS" ""
"0000356906" "0" "90" "1" "227169795" "227169820" "dup" "0" "01807" "ADCK3_000037" "g.227169795_227169820dup" "" "" "" "798_823dupGCTCTGCAAGGTGCGTGGTGCGGCAC" "" "Unknown" "" "" "0" "" "" "g.226982094_226982119dup" "" "pathogenic" ""
"0000356907" "0" "90" "1" "227171504" "227171504" "subst" "4.09423E-6" "01807" "ADCK3_000039" "g.227171504T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.226983803T>C" "" "pathogenic" ""
"0000405938" "11" "30" "1" "227170648" "227170648" "subst" "0.0158704" "02552" "ADCK3_000016" "g.227170648C>T" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.226982947C>T" "" "likely benign" ""
"0000405939" "21" "50" "1" "227170712" "227170712" "subst" "0.000228985" "02552" "ADCK3_000040" "g.227170712C>T" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.226983011C>T" "" "VUS" ""
"0000439052" "0" "50" "1" "227171824" "227171824" "subst" "0.000325576" "01164" "ADCK3_000041" "g.227171824A>G" "" "" "" "" "recessive carrier, no secon variant detected; reported in Horvath (2012) J Neurol Neurosurg Psychiatry 83: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3." "Germline" "" "rs144147839" "0" "" "" "g.226984123A>G" "" "VUS" "ACMG"
"0000459765" "3" "90" "1" "227174238" "227174238" "dup" "0" "00006" "ADCK3_000034" "g.227174238dup" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.226986537dup" "" "pathogenic (recessive)" ""
"0000505727" "0" "10" "1" "227081850" "227081850" "subst" "0.578947" "01943" "ADCK3_000042" "g.227081850G>A" "" "" "" "PSEN2(NM_000447.2):c.1191+24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226894149G>A" "" "benign" ""
"0000505728" "0" "30" "1" "227128108" "227128108" "subst" "0" "01804" "ADCK3_000043" "g.227128108T>C" "" "" "" "ADCK3(NM_020247.4):c.-10+8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226940407T>C" "" "likely benign" ""
"0000505729" "0" "10" "1" "227152778" "227152778" "subst" "0.0157372" "02330" "ADCK3_000009" "g.227152778T>G" "" "" "" "ADCK3(NM_020247.4):c.255T>G (p.H85Q, p.(His85Gln)), COQ8A(NM_020247.5):c.255T>G (p.H85Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226965077T>G" "" "benign" ""
"0000505731" "0" "90" "1" "227152978" "227152978" "subst" "0" "01943" "ADCK3_000045" "g.227152978C>A" "" "" "" "COQ8A(NM_020247.4):c.455C>A (p.S152*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226965277C>A" "" "pathogenic" ""
"0000505732" "0" "30" "1" "227153118" "227153118" "subst" "0" "01943" "ADCK3_000046" "g.227153118A>G" "" "" "" "COQ8A(NM_020247.4):c.588+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226965417A>G" "" "likely benign" ""
"0000505733" "0" "30" "1" "227153401" "227153401" "subst" "0.000609954" "01943" "ADCK3_000047" "g.227153401G>A" "" "" "" "COQ8A(NM_020247.4):c.618G>A (p.V206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226965700G>A" "" "likely benign" ""
"0000505735" "0" "30" "1" "227170603" "227170603" "subst" "0.00220293" "01943" "ADCK3_000049" "g.227170603C>T" "" "" "" "COQ8A(NM_020247.4):c.948C>T (p.L316=), COQ8A(NM_020247.5):c.948C>T (p.L316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226982902C>T" "" "likely benign" ""
"0000505736" "0" "10" "1" "227170648" "227170648" "subst" "0.0158704" "02330" "ADCK3_000016" "g.227170648C>T" "" "" "" "COQ8A(NM_020247.4):c.993C>T (p.F331=), COQ8A(NM_020247.5):c.993C>T (p.F331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226982947C>T" "" "benign" ""
"0000505737" "0" "10" "1" "227170648" "227170648" "subst" "0.0158704" "02325" "ADCK3_000016" "g.227170648C>T" "" "" "" "COQ8A(NM_020247.4):c.993C>T (p.F331=), COQ8A(NM_020247.5):c.993C>T (p.F331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226982947C>T" "" "benign" ""
"0000505738" "0" "30" "1" "227170648" "227170648" "subst" "0.0158704" "02326" "ADCK3_000016" "g.227170648C>T" "" "" "" "COQ8A(NM_020247.4):c.993C>T (p.F331=), COQ8A(NM_020247.5):c.993C>T (p.F331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226982947C>T" "" "likely benign" ""
"0000505740" "0" "90" "1" "227170697" "227170697" "subst" "4.15797E-5" "01943" "ADCK3_000017" "g.227170697C>T" "" "" "" "ADCK3(NM_020247.4):c.1042C>T (p.(Arg348*)), COQ8A(NM_020247.4):c.1042C>T (p.R348*), COQ8A(NM_020247.5):c.1042C>T (p.R348*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226982996C>T" "" "pathogenic" ""
"0000505741" "0" "50" "1" "227171498" "227171498" "subst" "6.13577E-5" "01943" "ADCK3_000051" "g.227171498G>A" "" "" "" "ADCK3(NM_020247.4):c.1199G>A (p.R400Q), COQ8A(NM_020247.5):c.1199G>A (p.(Arg400Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226983797G>A" "" "VUS" ""
"0000505742" "0" "50" "1" "227171514" "227171514" "subst" "6.14271E-5" "01943" "ADCK3_000052" "g.227171514G>A" "" "" "" "COQ8A(NM_020247.4):c.1215G>A (p.E405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226983813G>A" "" "VUS" ""
"0000505743" "0" "50" "1" "227172336" "227172336" "subst" "0" "01943" "ADCK3_000053" "g.227172336T>C" "" "" "" "COQ8A(NM_020247.4):c.1486T>C (p.Y496H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226984635T>C" "" "VUS" ""
"0000505744" "0" "50" "1" "227172641" "227172641" "subst" "1.21856E-5" "01943" "ADCK3_000054" "g.227172641A>G" "" "" "" "COQ8A(NM_020247.4):c.1571A>G (p.Q524R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226984940A>G" "" "VUS" ""
"0000505745" "0" "30" "1" "227172992" "227172992" "subst" "4.06488E-6" "01804" "ADCK3_000055" "g.227172992T>C" "" "" "" "ADCK3(NM_020247.4):c.1610T>C (p.(Val537Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226985291T>C" "" "likely benign" ""
"0000505747" "0" "50" "1" "227174315" "227174315" "subst" "8.12196E-6" "01943" "ADCK3_000056" "g.227174315C>A" "" "" "" "COQ8A(NM_020247.4):c.1821C>A (p.Y607*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226986614C>A" "" "VUS" ""
"0000505748" "0" "30" "1" "227174370" "227174370" "subst" "0.000906128" "01943" "ADCK3_000057" "g.227174370C>T" "" "" "" "COQ8A(NM_020247.4):c.1876C>T (p.R626C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226986669C>T" "" "likely benign" ""
"0000597535" "3" "90" "1" "227152771" "227152771" "dup" "0" "01807" "ADCK3_000058" "g.227152771dup" "" "" "" "248dupT" "" "Unknown" "" "" "0" "" "" "g.226965070dup" "" "pathogenic" ""
"0000605232" "0" "10" "1" "227081811" "227081811" "subst" "0.00121915" "02329" "PSEN2_000068" "g.227081811C>T" "" "" "" "PSEN2(NM_000447.3):c.1176C>T (p.F392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226894110C>T" "" "benign" ""
"0000605233" "0" "30" "1" "227171487" "227171487" "subst" "0.000396637" "01943" "ADCK3_000021" "g.227171487C>T" "" "" "" "COQ8A(NM_020247.4):c.1188C>T (p.D396=), COQ8A(NM_020247.5):c.1188C>T (p.D396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226983786C>T" "" "likely benign" ""
"0000620534" "0" "30" "1" "227152802" "227152802" "subst" "6.49942E-5" "01943" "ADCK3_000059" "g.227152802C>T" "" "" "" "COQ8A(NM_020247.4):c.279C>T (p.F93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226965101C>T" "" "likely benign" ""
"0000629308" "21" "90" "1" "227169824" "227169824" "subst" "0" "00006" "ADCK3_000060" "g.227169824A>G" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "high genotype/phenotype correlation" "Germline" "" "" "0" "" "" "g.226982123A>G" "" "pathogenic" ""
"0000629350" "11" "90" "1" "227174196" "227174196" "del" "0" "00006" "ADCK3_000061" "g.227174196del" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "1702delG" "" "Germline" "" "" "0" "" "" "g.226986495del" "" "pathogenic" ""
"0000647602" "1" "50" "1" "227170648" "227170648" "subst" "0.0158704" "03575" "ADCK3_000016" "g.227170648C>T" "58/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 58 heterozygous, no homozygous; {DB:CLININrs41303129}" "Germline" "" "rs41303129" "0" "" "" "g.226982947C>T" "" "VUS" ""
"0000653924" "0" "70" "1" "227171934" "227171934" "del" "0" "02327" "ADCK3_000062" "g.227171934del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226984233del" "" "likely pathogenic" ""
"0000675241" "11" "90" "1" "227169808" "227169808" "subst" "0.000105118" "00006" "ADCK3_000063" "g.227169808C>T" "" "{PMID:Krygier 2019:30548255}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000675242" "21" "90" "1" "227174299" "227174299" "subst" "2.43655E-5" "00006" "ADCK3_000064" "g.227174299C>T" "" "{PMID:Krygier 2019:30548255}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000675681" "0" "70" "1" "227171308" "227171308" "subst" "4.06194E-6" "01943" "ADCK3_000065" "g.227171308T>A" "" "" "" "COQ8A(NM_020247.4):c.1136T>A (p.L379*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000675682" "0" "30" "1" "227173026" "227173026" "subst" "5.28946E-5" "01943" "ADCK3_000066" "g.227173026C>T" "" "" "" "COQ8A(NM_020247.4):c.1644C>T (p.T548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688044" "0" "50" "1" "227170436" "227170436" "subst" "4.0657E-5" "02325" "ADCK3_000048" "g.227170436C>T" "" "" "" "COQ8A(NM_020247.5):c.911C>T (p.A304V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688045" "0" "90" "1" "227174196" "227174196" "subst" "4.06934E-6" "01943" "ADCK3_000033" "g.227174196G>T" "" "" "" "COQ8A(NM_020247.4):c.1702G>T (p.E568*), COQ8A(NM_020247.5):c.1702G>T (p.(Glu568Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000717230" "0" "30" "1" "227152778" "227152778" "subst" "0.0157372" "01804" "ADCK3_000009" "g.227152778T>G" "" "" "" "ADCK3(NM_020247.4):c.255T>G (p.H85Q, p.(His85Gln)), COQ8A(NM_020247.5):c.255T>G (p.H85Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717231" "0" "30" "1" "227165191" "227165191" "subst" "0.0013781" "02326" "ADCK3_000067" "g.227165191G>A" "" "" "" "COQ8A(NM_020247.5):c.697G>A (p.A233T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717232" "0" "30" "1" "227171303" "227171303" "subst" "0.000142164" "01943" "ADCK3_000068" "g.227171303C>T" "" "" "" "COQ8A(NM_020247.4):c.1131C>T (p.A377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717233" "0" "50" "1" "227171528" "227171528" "subst" "3.28639E-5" "01943" "ADCK3_000069" "g.227171528G>A" "" "" "" "COQ8A(NM_020247.4):c.1229G>A (p.R410Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717234" "0" "50" "1" "227171937" "227171941" "dup" "0" "01943" "ADCK3_000070" "g.227171937_227171941dup" "" "" "" "COQ8A(NM_020247.4):c.1398_1399insGTTTG (p.I467Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717235" "0" "30" "1" "227172237" "227172237" "subst" "0.000836657" "02326" "ADCK3_000071" "g.227172237C>T" "" "" "" "COQ8A(NM_020247.5):c.1399-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717236" "0" "70" "1" "227174159" "227174159" "subst" "0.000122659" "02329" "ADCK3_000027" "g.227174159G>A" "" "" "" "COQ8A(NM_020247.5):c.1665G>A (p.M555I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000788895" "1" "70" "1" "227170670" "227170670" "subst" "0" "00006" "ADCK3_000072" "g.227170670G>A" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "Germline" "" "" "0" "" "" "g.226982969G>A" "" "likely pathogenic" ""
"0000788920" "2" "70" "1" "227174159" "227174159" "subst" "0.000122659" "00006" "ADCK3_000027" "g.227174159G>A" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "Germline" "" "" "0" "" "" "g.226986458G>A" "" "likely pathogenic" ""
"0000799145" "0" "70" "1" "227174244" "227174246" "del" "0" "01943" "ADCK3_000002" "g.227174244_227174246del" "" "" "" "COQ8A(NM_020247.4):c.1750_1752delACC (p.T584del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000848568" "0" "50" "1" "227083236" "227083236" "subst" "0.000134615" "01943" "ADCK3_000073" "g.227083236C>T" "" "" "" "PSEN2(NM_000447.2):c.1303C>T (p.R435W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848569" "0" "30" "1" "227174204" "227174204" "subst" "2.0335E-5" "01943" "ADCK3_000077" "g.227174204C>T" "" "" "" "COQ8A(NM_020247.4):c.1710C>T (p.F570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000848570" "0" "50" "1" "227174236" "227174236" "dup" "0" "01943" "ADCK3_000078" "g.227174236dup" "" "" "" "COQ8A(NM_020247.4):c.1742dupA (p.S582Efs*148), COQ8A(NM_020247.5):c.1742dup (p.(Ser582GlufsTer148))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857316" "0" "30" "1" "227149111" "227149111" "subst" "0.000255912" "01943" "ADCK3_000074" "g.227149111A>G" "" "" "" "COQ8A(NM_020247.4):c.25A>G (p.I9V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857317" "0" "50" "1" "227169782" "227169782" "subst" "8.1712E-6" "01943" "ADCK3_000075" "g.227169782G>A" "" "" "" "COQ8A(NM_020247.4):c.785G>A (p.R262Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857318" "0" "30" "1" "227170603" "227170603" "subst" "0.00220293" "02326" "ADCK3_000049" "g.227170603C>T" "" "" "" "COQ8A(NM_020247.4):c.948C>T (p.L316=), COQ8A(NM_020247.5):c.948C>T (p.L316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857319" "0" "30" "1" "227172232" "227172232" "subst" "0" "02326" "ADCK3_000076" "g.227172232C>T" "" "" "" "COQ8A(NM_020247.5):c.1399-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000883185" "0" "30" "1" "227152821" "227152821" "subst" "0.000617545" "02326" "ADCK3_000010" "g.227152821G>T" "" "" "" "COQ8A(NM_020247.4):c.298G>T (p.D100Y), COQ8A(NM_020247.5):c.298G>T (p.D100Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000883186" "0" "30" "1" "227152907" "227152907" "subst" "0.000801341" "02326" "ADCK3_000011" "g.227152907C>T" "" "" "" "COQ8A(NM_020247.4):c.384C>T (p.A128=), COQ8A(NM_020247.5):c.384C>T (p.A128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000918948" "0" "70" "1" "227171826" "227171826" "subst" "0" "01602" "ADCK3_000079" "g.227171826G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000939780" "1" "50" "1" "227169808" "227169808" "subst" "0.000105118" "00006" "ADCK3_000063" "g.227169808C>T" "" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.226982107C>T" "" "VUS" ""
"0000939783" "2" "90" "1" "227173007" "227173008" "del" "0" "00006" "ADCK3_000080" "g.227173007_227173008del" "" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.226985306_226985307del" "" "likely pathogenic (recessive)" ""
"0000939881" "1" "70" "1" "227153421" "227153421" "subst" "1.62801E-5" "00006" "ADCK3_000081" "g.227153421G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.226965720G>A" "" "likely pathogenic (recessive)" ""
"0000939911" "2" "50" "1" "227172321" "227172321" "subst" "0" "00006" "ADCK3_000082" "g.227172321T>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.226984620T>A" "" "VUS" ""
"0000947163" "0" "30" "1" "227170644" "227170644" "subst" "0.000271716" "02326" "ADCK3_000083" "g.227170644A>G" "" "" "" "COQ8A(NM_020247.5):c.989A>G (p.Y330C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000973730" "0" "50" "1" "227081798" "227081798" "subst" "0.000113767" "01804" "ADCK3_000084" "g.227081798C>T" "" "" "" "PSEN2(NM_000447.3):c.1163C>T (p.(Thr388Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973731" "0" "50" "1" "227170631" "227170631" "subst" "4.12562E-6" "01804" "ADCK3_000085" "g.227170631G>A" "" "" "" "COQ8A(NM_020247.5):c.976G>A (p.(Asp326Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973732" "0" "30" "1" "227171916" "227171916" "subst" "0.000113945" "01804" "ADCK3_000086" "g.227171916A>G" "" "" "" "COQ8A(NM_020247.5):c.1378A>G (p.(Ser460Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000973733" "0" "90" "1" "227174196" "227174196" "subst" "4.06934E-6" "01804" "ADCK3_000033" "g.227174196G>T" "" "" "" "COQ8A(NM_020247.4):c.1702G>T (p.E568*), COQ8A(NM_020247.5):c.1702G>T (p.(Glu568Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000990913" "0" "50" "1" "227083195" "227083195" "subst" "2.84722E-5" "01804" "ADCK3_000087" "g.227083195C>T" "" "" "" "PSEN2(NM_000447.2):c.1262C>T (p.(Thr421Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990914" "0" "50" "1" "227174193" "227174193" "subst" "0" "02327" "ADCK3_000088" "g.227174193G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031764" "0" "50" "1" "227153394" "227153394" "subst" "2.84601E-5" "01804" "ADCK3_000090" "g.227153394G>A" "" "" "" "COQ8A(NM_020247.5):c.611G>A (p.(Arg204Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031765" "0" "30" "1" "227171487" "227171487" "subst" "0.000396637" "02326" "ADCK3_000021" "g.227171487C>T" "" "" "" "COQ8A(NM_020247.4):c.1188C>T (p.D396=), COQ8A(NM_020247.5):c.1188C>T (p.D396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031766" "0" "50" "1" "227171498" "227171498" "subst" "6.13577E-5" "01804" "ADCK3_000051" "g.227171498G>A" "" "" "" "ADCK3(NM_020247.4):c.1199G>A (p.R400Q), COQ8A(NM_020247.5):c.1199G>A (p.(Arg400Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031767" "0" "50" "1" "227172638" "227172638" "subst" "0" "01804" "ADCK3_000091" "g.227172638T>C" "" "" "" "COQ8A(NM_020247.5):c.1568T>C (p.(Ile523Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031768" "0" "70" "1" "227173033" "227173033" "subst" "1.62845E-5" "01804" "ADCK3_000092" "g.227173033G>A" "" "" "" "COQ8A(NM_020247.5):c.1651G>A (p.(Glu551Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001031769" "0" "70" "1" "227174236" "227174236" "dup" "0" "01804" "ADCK3_000078" "g.227174236dup" "" "" "" "COQ8A(NM_020247.4):c.1742dupA (p.S582Efs*148), COQ8A(NM_020247.5):c.1742dup (p.(Ser582GlufsTer148))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## 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 ADCK3
## Count = 136
"{{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}}"
"0000129987" "00002125" "90" "1750" "0" "1752" "0" "c.1750_1752del" "r.(?)" "p.(Thr584del)" ""
"0000129988" "00002125" "90" "1805" "0" "1805" "0" "c.1805C>G" "r.(?)" "p.(Pro602Arg)" ""
"0000130165" "00002125" "70" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Cys)" ""
"0000130262" "00002125" "70" "815" "0" "815" "0" "c.815G>C" "r.(?)" "p.(Gly272Ala)" ""
"0000254607" "00002125" "30" "1049" "0" "1049" "0" "c.1049A>G" "r.(?)" "p.(Lys350Arg)" ""
"0000257349" "00002125" "10" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Gly351=)" ""
"0000257350" "00002125" "10" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(Ala39=)" ""
"0000257351" "00002125" "10" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Ile395=)" ""
"0000257352" "00002125" "10" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Asp396=)" ""
"0000257353" "00002125" "10" "1440" "0" "1440" "0" "c.1440C>T" "r.(?)" "p.(Phe480=)" ""
"0000257354" "00002125" "10" "1573" "-20" "1573" "-20" "c.1573-20C>G" "r.(=)" "p.(=)" ""
"0000257355" "00002125" "10" "1660" "-9" "1660" "-9" "c.1660-9T>C" "r.(=)" "p.(=)" ""
"0000257356" "00002125" "10" "1716" "0" "1716" "0" "c.1716T>C" "r.(?)" "p.(Ser572=)" ""
"0000257357" "00002125" "10" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Ala21=)" ""
"0000258725" "00002125" "10" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(Ala39=)" ""
"0000258726" "00002125" "10" "1440" "0" "1440" "0" "c.1440C>T" "r.(?)" "p.(Phe480=)" ""
"0000258727" "00002125" "10" "1573" "-20" "1573" "-20" "c.1573-20C>G" "r.(=)" "p.(=)" ""
"0000258728" "00002125" "10" "1660" "-9" "1660" "-9" "c.1660-9T>C" "r.(=)" "p.(=)" ""
"0000258729" "00002125" "10" "1716" "0" "1716" "0" "c.1716T>C" "r.(?)" "p.(Ser572=)" ""
"0000259311" "00002125" "30" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Ile395=)" ""
"0000259421" "00002125" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Pro188=)" ""
"0000259719" "00002125" "70" "1665" "0" "1665" "0" "c.1665G>A" "r.(?)" "p.(Met555Ile)" ""
"0000259736" "00002125" "90" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" ""
"0000260032" "00002125" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Ter)" ""
"0000261973" "00002125" "30" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Gly351=)" ""
"0000261974" "00002125" "10" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(Ala39=)" ""
"0000261975" "00002125" "10" "1440" "0" "1440" "0" "c.1440C>T" "r.(?)" "p.(Phe480=)" ""
"0000261976" "00002125" "30" "1573" "-20" "1573" "-20" "c.1573-20C>G" "r.(=)" "p.(=)" ""
"0000261977" "00002125" "10" "1660" "-9" "1660" "-9" "c.1660-9T>C" "r.(=)" "p.(=)" ""
"0000261978" "00002125" "10" "1716" "0" "1716" "0" "c.1716T>C" "r.(?)" "p.(Ser572=)" ""
"0000261979" "00002125" "30" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(Ser638=)" ""
"0000261980" "00002125" "30" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(His80Tyr)" ""
"0000261981" "00002125" "10" "255" "0" "255" "0" "c.255T>G" "r.(?)" "p.(His85Gln)" ""
"0000261982" "00002125" "10" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Ala21=)" ""
"0000261983" "00002125" "10" "655" "9" "655" "9" "c.655+9G>A" "r.(=)" "p.(=)" ""
"0000261984" "00002125" "30" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(His26=)" ""
"0000274337" "00002125" "30" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Ile395=)" ""
"0000274338" "00002125" "30" "298" "0" "298" "0" "c.298G>T" "r.(?)" "p.(Asp100Tyr)" ""
"0000274339" "00002125" "30" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Ala128=)" ""
"0000274340" "00002125" "30" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Arg)" ""
"0000274341" "00002125" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Pro188=)" ""
"0000274342" "00002125" "50" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Phe331=)" ""
"0000297417" "00002125" "30" "-46299" "0" "-46299" "0" "c.-46299C>T" "r.(?)" "p.(=)" ""
"0000306542" "00002125" "30" "-46308" "0" "-46308" "0" "c.-46308G>A" "r.(?)" "p.(=)" ""
"0000306543" "00002125" "50" "-44967" "0" "-44967" "0" "c.-44967C>G" "r.(?)" "p.(=)" ""
"0000321316" "00002125" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Ter)" ""
"0000321317" "00002125" "50" "1080" "2" "1080" "2" "c.1080+2T>C" "r.spl?" "p.?" ""
"0000321318" "00002125" "50" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Ter)" ""
"0000321320" "00002125" "50" "1793" "0" "1793" "0" "c.1793G>A" "r.(?)" "p.(Arg598His)" ""
"0000337537" "00002125" "10" "1573" "-20" "1573" "-20" "c.1573-20C>G" "r.(=)" "p.(=)" ""
"0000337538" "00002125" "10" "1660" "-9" "1660" "-9" "c.1660-9T>C" "r.(=)" "p.(=)" ""
"0000339693" "00002125" "10" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(Ala39=)" ""
"0000339694" "00002125" "10" "1440" "0" "1440" "0" "c.1440C>T" "r.(?)" "p.(Phe480=)" ""
"0000339695" "00002125" "10" "1716" "0" "1716" "0" "c.1716T>C" "r.(?)" "p.(Ser572=)" ""
"0000340622" "00002125" "10" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Ala128=)" ""
"0000340826" "00002125" "10" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Ile395=)" ""
"0000342698" "00002125" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Ter)" ""
"0000345479" "00002125" "90" "1702" "0" "1702" "0" "c.1702G>T" "r.(?)" "p.(Glu568Ter)" ""
"0000347260" "00002125" "50" "1868" "0" "1868" "0" "c.1868T>G" "r.(?)" "p.(Leu623Arg)" ""
"0000347863" "00002125" "50" "1665" "0" "1665" "0" "c.1665G>A" "r.(?)" "p.(Met555Ile)" ""
"0000349545" "00002125" "50" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Thr511Met)" ""
"0000356906" "00002125" "90" "798" "0" "823" "0" "c.798_823dup" "r.(?)" "p.(Leu275Argfs*16)" ""
"0000356907" "00002125" "90" "1205" "0" "1205" "0" "c.1205T>C" "r.(?)" "p.(Leu402Pro)" ""
"0000405938" "00002125" "30" "993" "0" "993" "0" "c.993C>T" "r.(=)" "p.(=)" ""
"0000405939" "00002125" "50" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353Cys)" ""
"0000439052" "00002125" "50" "1286" "0" "1286" "0" "c.1286A>G" "r.(?)" "p.Tyr429Cys" ""
"0000459765" "00002125" "90" "1744" "0" "1744" "0" "c.1744dup" "r.(?)" "p.(Ser582Lysfs*148)" ""
"0000505727" "00002125" "10" "-46260" "0" "-46260" "0" "c.-46260G>A" "r.(?)" "p.(=)" ""
"0000505728" "00002125" "30" "-10" "8" "-10" "8" "c.-10+8T>C" "r.(=)" "p.(=)" ""
"0000505729" "00002125" "10" "255" "0" "255" "0" "c.255T>G" "r.(?)" "p.(His85Gln)" ""
"0000505731" "00002125" "90" "455" "0" "455" "0" "c.455C>A" "r.(?)" "p.(Ser152Ter)" ""
"0000505732" "00002125" "30" "588" "7" "588" "7" "c.588+7A>G" "r.(=)" "p.(=)" ""
"0000505733" "00002125" "30" "618" "0" "618" "0" "c.618G>A" "r.(?)" "p.(Val206=)" ""
"0000505735" "00002125" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(Leu316=)" ""
"0000505736" "00002125" "10" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Phe331=)" ""
"0000505737" "00002125" "10" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Phe331=)" ""
"0000505738" "00002125" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Phe331=)" ""
"0000505740" "00002125" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Ter)" ""
"0000505741" "00002125" "50" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400Gln)" ""
"0000505742" "00002125" "50" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Glu405=)" ""
"0000505743" "00002125" "50" "1486" "0" "1486" "0" "c.1486T>C" "r.(?)" "p.(Tyr496His)" ""
"0000505744" "00002125" "50" "1571" "0" "1571" "0" "c.1571A>G" "r.(?)" "p.(Gln524Arg)" ""
"0000505745" "00002125" "30" "1610" "0" "1610" "0" "c.1610T>C" "r.(?)" "p.(Val537Ala)" ""
"0000505747" "00002125" "50" "1821" "0" "1821" "0" "c.1821C>A" "r.(?)" "p.(Tyr607Ter)" ""
"0000505748" "00002125" "30" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Arg626Cys)" ""
"0000597535" "00002125" "90" "248" "0" "248" "0" "c.248dup" "r.(?)" "p.(His85Alafs*42)" ""
"0000605232" "00002125" "10" "-46299" "0" "-46299" "0" "c.-46299C>T" "r.(?)" "p.(=)" ""
"0000605233" "00002125" "30" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Asp396=)" ""
"0000620534" "00002125" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Phe93=)" ""
"0000629308" "00002125" "90" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Lys276Arg)" ""
"0000629350" "00002125" "90" "1702" "0" "1702" "0" "c.1702del" "r.(?)" "p.(Glu568Argfs*23)" ""
"0000647602" "00002125" "50" "993" "0" "993" "0" "c.993C>T" "r.(=)" "p.(=)" ""
"0000653924" "00002125" "70" "1396" "0" "1396" "0" "c.1396del" "r.(?)" "p.(Glu466ArgfsTer11)" ""
"0000675241" "00002125" "90" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" ""
"0000675242" "00002125" "90" "1805" "0" "1805" "0" "c.1805C>T" "r.(?)" "p.(Pro602Leu)" ""
"0000675681" "00002125" "70" "1136" "0" "1136" "0" "c.1136T>A" "r.(?)" "p.(Leu379Ter)" ""
"0000675682" "00002125" "30" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Thr548=)" ""
"0000688044" "00002125" "50" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Ala304Val)" ""
"0000688045" "00002125" "90" "1702" "0" "1702" "0" "c.1702G>T" "r.(?)" "p.(Glu568Ter)" ""
"0000717230" "00002125" "30" "255" "0" "255" "0" "c.255T>G" "r.(?)" "p.(His85Gln)" ""
"0000717231" "00002125" "30" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Ala233Thr)" ""
"0000717232" "00002125" "30" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Ala377=)" ""
"0000717233" "00002125" "50" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Arg410Gln)" ""
"0000717234" "00002125" "50" "1398" "1" "1398" "5" "c.1398+1_1398+5dup" "r.spl?" "p.?" ""
"0000717235" "00002125" "30" "1399" "-12" "1399" "-12" "c.1399-12C>T" "r.(=)" "p.(=)" ""
"0000717236" "00002125" "70" "1665" "0" "1665" "0" "c.1665G>A" "r.(?)" "p.(Met555Ile)" ""
"0000788895" "00002125" "70" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" ""
"0000788920" "00002125" "70" "1665" "0" "1665" "0" "c.1665G>A" "r.(?)" "p.(Met555Ile)" ""
"0000799145" "00002125" "70" "1750" "0" "1752" "0" "c.1750_1752del" "r.(?)" "p.(Thr584del)" ""
"0000848568" "00002125" "50" "-44874" "0" "-44874" "0" "c.-44874C>T" "r.(?)" "p.(=)" ""
"0000848569" "00002125" "30" "1710" "0" "1710" "0" "c.1710C>T" "r.(?)" "p.(Phe570=)" ""
"0000848570" "00002125" "50" "1742" "0" "1742" "0" "c.1742dup" "r.(?)" "p.(Ser582Glufs*148)" ""
"0000857316" "00002125" "30" "25" "0" "25" "0" "c.25A>G" "r.(?)" "p.(Ile9Val)" ""
"0000857317" "00002125" "50" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" ""
"0000857318" "00002125" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(Leu316=)" ""
"0000857319" "00002125" "30" "1399" "-17" "1399" "-17" "c.1399-17C>T" "r.(=)" "p.(=)" ""
"0000883185" "00002125" "30" "298" "0" "298" "0" "c.298G>T" "r.(?)" "p.(Asp100Tyr)" ""
"0000883186" "00002125" "30" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Ala128=)" ""
"0000918948" "00002125" "70" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Val430Met)" ""
"0000939780" "00002125" "50" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" ""
"0000939783" "00002125" "90" "1625" "0" "1626" "0" "c.1625_1626del" "r.(?)" "p.(Ile542ArgfsTer31)" ""
"0000939881" "00002125" "70" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Arg213Gln)" "4"
"0000939911" "00002125" "50" "1471" "0" "1471" "0" "c.1471T>A" "r.(?)" "p.(Trp491Arg)" "12"
"0000947163" "00002125" "30" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Tyr330Cys)" ""
"0000973730" "00002125" "50" "-46312" "0" "-46312" "0" "c.-46312C>T" "r.(?)" "p.(=)" ""
"0000973731" "00002125" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Asp326Asn)" ""
"0000973732" "00002125" "30" "1378" "0" "1378" "0" "c.1378A>G" "r.(?)" "p.(Ser460Gly)" ""
"0000973733" "00002125" "90" "1702" "0" "1702" "0" "c.1702G>T" "r.(?)" "p.(Glu568Ter)" ""
"0000990913" "00002125" "50" "-44915" "0" "-44915" "0" "c.-44915C>T" "r.(?)" "p.(=)" ""
"0000990914" "00002125" "50" "1699" "0" "1699" "0" "c.1699G>T" "r.(?)" "p.(Gly567Trp)" ""
"0001031764" "00002125" "50" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204Gln)" ""
"0001031765" "00002125" "30" "1188" "0" "1188" "0" "c.1188C>T" "r.(?)" "p.(Asp396=)" ""
"0001031766" "00002125" "50" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400Gln)" ""
"0001031767" "00002125" "50" "1568" "0" "1568" "0" "c.1568T>C" "r.(?)" "p.(Ile523Thr)" ""
"0001031768" "00002125" "70" "1651" "0" "1651" "0" "c.1651G>A" "r.(?)" "p.(Glu551Lys)" ""
"0001031769" "00002125" "70" "1742" "0" "1742" "0" "c.1742dup" "r.(?)" "p.(Ser582Glufs*148)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 23
"{{screeningid}}" "{{variantid}}"
"0000080910" "0000129987"
"0000080910" "0000129988"
"0000081079" "0000130165"
"0000081176" "0000130262"
"0000155825" "0000356906"
"0000155826" "0000356907"
"0000182109" "0000405938"
"0000182109" "0000405939"
"0000208989" "0000439052"
"0000226743" "0000459765"
"0000266722" "0000597535"
"0000275344" "0000629308"
"0000275344" "0000629350"
"0000290913" "0000647602"
"0000308292" "0000675241"
"0000308292" "0000675242"
"0000376840" "0000788895"
"0000376840" "0000788920"
"0000433304" "0000918948"
"0000441843" "0000939780"
"0000441843" "0000939783"
"0000441939" "0000939881"
"0000441939" "0000939911"