### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ADCK4)
# 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}}"
"ADCK4" "aarF domain containing kinase 4" "19" "q13.2" "unknown" "NC_000019.9" "UD_132118966548" "" "https://www.LOVD.nl/COQ8B" "" "1" "19041" "79934" "615567" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from ADCK4 to COQ8B" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-11 15:35:58" "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}}"
"00002126" "ADCK4" "transcript variant 1" "001" "NM_024876.3" "" "NP_079152.3" "" "" "" "-302" "2141" "1635" "41222790" "41197434" "" "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"
"00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25"
"00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22"
"04010" "NPHS9" "nephrotic syndrome, type 9 (NPHS-9)" "AR" "615573" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05862" "kidney disease" "kidney disease" "" "" "" "" "" "00006" "2020-10-25 09:21:44" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"ADCK4" "00112"
"ADCK4" "00399"
"ADCK4" "04010"
## Individuals ## Do not remove or alter this header ##
## Count = 11
"{{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}}"
"00080962" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" ""
"00210166" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" ""
"00292134" "" "" "" "55" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304662" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00414368" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP35"
"00453715" "" "" "" "1" "" "00006" "{PMID:Iglesias-Romero 2024:39226897}" "3-generation family, 1 affected, unaffected parents/relatives" "M" "" "Portugal" "" "0" "" "" "" "Fam1LL309"
"00453716" "" "" "" "2" "" "00006" "{PMID:Iglesias-Romero 2024:39226897}" "3-generation family, 2 affected sisters, unaffected parents/relatives" "F" "" "Portugal" "" "0" "" "" "" "Fam2LL322"
"00453717" "" "" "00453716" "1" "" "00006" "{PMID:Iglesias-Romero 2024:39226897}" "sister" "F" "" "Portugal" "" "0" "" "" "" "Fam2LL342"
"00453718" "" "" "" "1" "" "00006" "{PMID:Iglesias-Romero 2024:39226897}" "2-generation family, 1 affected, unaffected parents/relatives" "F" "yes" "Portugal" "" "0" "" "" "" "Fam3LL82"
"00453719" "" "" "" "1" "" "00006" "{PMID:Iglesias-Romero 2024:39226897}" "3-generation family, 1 affected, unaffected parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam4GC28007"
"00464550" "" "" "" "1" "" "04333" "" "" "M" "yes" "Israel" "" "" "" "" "Muslim Arab" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}" "{{diseaseid}}"
"00080962" "04010"
"00292134" "00198"
"00304662" "00198"
"00414368" "00198"
"00453715" "00112"
"00453716" "00112"
"00453717" "00112"
"00453718" "00112"
"00453719" "00112"
"00464550" "00381"
"00464550" "05862"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00381, 00399, 04010, 05862
## Count = 8
"{{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}}"
"0000060531" "04010" "00080962" "01758" "Familial, autosomal recessive" "" "Nephrotic syndrome, type 9 (OMIM:615573)" "" "" "" "" "" "" "" "" "" "" ""
"0000158739" "00198" "00210166" "01164" "Unknown" "" "HP:0004904 (Maturity-onset diabetes of the young)" "" "" "" "" "" "" "" "" "" "" ""
"0000306203" "00198" "00414368" "00000" "Familial, autosomal recessive" "4y" "" "" "" "" "" "" "" "" "" "Nephrotic Syndrome Type 9" "" ""
"0000342372" "00112" "00453715" "00006" "Familial, autosomal recessive" "48y" "see paper; ..., retinitis pigmentosa with early macular involvement" "14y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000342373" "00112" "00453716" "00006" "Familial, autosomal recessive" "52y" "see paper; ..., mild retinitis pigmentosa with annular atrophy pattern" "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000342374" "00112" "00453717" "00006" "Familial, autosomal recessive" "64y" "see paper; ..., retinitis pigmentosa with spared macula" "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000342375" "00112" "00453718" "00006" "Familial, autosomal recessive" "61y" "see paper; ..., onset early childhood retinitis pigmentosa with macular edema" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000342376" "00112" "00453719" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., mild retinitis pigmentosa with macular edema" "26y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
## Screenings ## Do not remove or alter this header ##
## Count = 11
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000081074" "00080962" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000211242" "00210166" "1" "01164" "01164" "2018-12-27 15:47:14" "" "" "SEQ-NG" "DNA" "" ""
"0000293302" "00292134" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305791" "00304662" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000415648" "00414368" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000455327" "00453715" "1" "00006" "00006" "2024-09-11 16:05:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000455328" "00453716" "1" "00006" "00006" "2024-09-11 16:05:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000455329" "00453717" "1" "00006" "00006" "2024-09-11 16:05:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000455330" "00453718" "1" "00006" "00006" "2024-09-11 16:05:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000455331" "00453719" "1" "00006" "00006" "2024-09-11 16:05:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000466190" "00464550" "1" "04333" "04333" "2025-03-27 12:42:23" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000081074" "ADCK4"
"0000415648" "ADCK4"
## 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 = 41
"{{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}}"
"0000130160" "3" "90" "19" "41211045" "41211045" "subst" "0" "01758" "ADCK4_000001" "g.41211045G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.40705140G>A" "" "pathogenic" "ACMG"
"0000260612" "0" "10" "19" "41198270" "41198270" "subst" "0.0038033" "02326" "ADCK4_000002" "g.41198270G>A" "" "" "" "COQ8B(NM_024876.4):c.1305C>T (p.S435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40692365G>A" "" "benign" ""
"0000260613" "0" "90" "19" "41211045" "41211045" "subst" "0" "02326" "ADCK4_000001" "g.41211045G>A" "" "" "" "COQ8B(NM_024876.4):c.532C>T (p.R178W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40705140G>A" "" "pathogenic" ""
"0000342094" "0" "70" "19" "41211045" "41211045" "subst" "0" "02327" "ADCK4_000001" "g.41211045G>A" "" "" "" "COQ8B(NM_024876.4):c.532C>T (p.R178W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40705140G>A" "" "likely pathogenic" ""
"0000346466" "0" "90" "19" "41201904" "41201904" "dup" "0" "02327" "ADCK4_000003" "g.41201904dup" "" "" "" "COQ8B(NM_024876.4):c.1199dupA (p.H400Qfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40695999dup" "" "pathogenic" ""
"0000442702" "0" "50" "19" "41198127" "41198127" "subst" "3.95219E-5" "01164" "ADCK4_000005" "g.41198127T>C" "" "" "" "" "" "Germline" "" "rs752780517" "0" "" "" "g.40692222T>C" "" "VUS" "ACMG"
"0000567428" "0" "30" "19" "41209460" "41209460" "subst" "0" "02327" "ADCK4_000007" "g.41209460G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40703555G>A" "" "likely benign" ""
"0000617628" "0" "10" "19" "41224204" "41224204" "subst" "0.121015" "02327" "ADCK4_000008" "g.41224204G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40718299G>C" "" "benign" ""
"0000649991" "1" "10" "19" "41220029" "41220029" "subst" "0.0248916" "03575" "ADCK4_000009" "g.41220029G>A" "55/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "55 heterozygous; {DB:CLININrs11538384}" "Germline" "" "rs11538384" "0" "" "" "g.40714124G>A" "" "benign" ""
"0000669479" "3" "10" "19" "41220029" "41220029" "subst" "0.0248916" "03575" "ADCK4_000009" "g.41220029G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs11538384}" "Germline" "" "rs11538384" "0" "" "" "g.40714124G>A" "" "benign" ""
"0000692795" "0" "90" "19" "41206031" "41206031" "subst" "1.62452E-5" "02326" "ADCK4_000010" "g.41206031G>A" "" "" "" "COQ8B(NM_024876.4):c.1084C>T (p.R362*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000727372" "0" "30" "19" "41206082" "41206082" "subst" "0.000357529" "01943" "ADCK4_000011" "g.41206082G>C" "" "" "" "COQ8B(NM_024876.3):c.1036-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000808876" "0" "90" "19" "41201899" "41201902" "dup" "0" "02327" "ADCK4_000014" "g.41201899_41201902dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000808877" "0" "30" "19" "41206207" "41206207" "subst" "0.00140778" "02326" "ADCK4_000015" "g.41206207C>T" "" "" "" "COQ8B(NM_024876.4):c.1035+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000808878" "0" "50" "19" "41209688" "41209688" "subst" "0.000120263" "01943" "ADCK4_000016" "g.41209688C>T" "" "" "" "COQ8B(NM_024876.3):c.649G>A (p.A217T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000808879" "0" "90" "19" "41209694" "41209694" "del" "0" "01943" "ADCK4_000004" "g.41209694del" "" "" "" "COQ8B(NM_024876.3):c.645delT (p.F215Lfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000855593" "0" "30" "19" "41209674" "41209674" "subst" "0.00313325" "02326" "ADCK4_000018" "g.41209674C>T" "" "" "" "COQ8B(NM_024876.4):c.663G>A (p.G221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000866134" "0" "30" "19" "41198228" "41198228" "subst" "0.000944307" "02326" "ADCK4_000017" "g.41198228G>A" "" "" "" "COQ8B(NM_024876.4):c.1347C>T (p.F449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000873490" "0" "70" "19" "41209508" "41209508" "subst" "6.54172E-5" "00000" "ADCK4_000020" "g.41209508C>T" "135" "{PMID:Sun 2018:30076350}" "" "ADCK4 (NM_024876.3):c.748G>C(p.D250H)/c.737G>A(p.S246N)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.40703603C>T" "" "likely pathogenic" ""
"0000873491" "0" "70" "19" "41209497" "41209497" "subst" "4.50661E-5" "00000" "ADCK4_000019" "g.41209497C>G" "135" "{PMID:Sun 2018:30076350}" "" "ADCK4 (NM_024876.3):c.748G>C(p.D250H)/c.737G>A(p.S246N)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.40703592C>G" "" "likely pathogenic" ""
"0000895000" "0" "30" "19" "41197996" "41197996" "subst" "0" "02326" "ADCK4_000021" "g.41197996C>T" "" "" "" "COQ8B(NM_024876.4):c.1579G>A (p.A527T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000895001" "0" "30" "19" "41198210" "41198210" "subst" "0.00320751" "02326" "ADCK4_000022" "g.41198210A>G" "" "" "" "COQ8B(NM_024876.4):c.1365T>C (p.Y455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000895002" "0" "30" "19" "41198952" "41198952" "subst" "0.000122442" "02326" "ADCK4_000023" "g.41198952C>G" "" "" "" "COQ8B(NM_024876.4):c.1210-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000895003" "0" "30" "19" "41198952" "41198952" "subst" "0.00339164" "02326" "ADCK4_000024" "g.41198952C>T" "" "" "" "COQ8B(NM_024876.4):c.1210-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000895004" "0" "30" "19" "41201897" "41201897" "subst" "0.00136441" "02326" "ADCK4_000025" "g.41201897G>A" "" "" "" "COQ8B(NM_024876.4):c.1206C>T (p.I402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000895005" "0" "30" "19" "41201953" "41201953" "subst" "0" "02326" "ADCK4_000026" "g.41201953G>A" "" "" "" "COQ8B(NM_024876.4):c.1150C>T (p.L384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000926892" "0" "30" "19" "41206202" "41206202" "subst" "0.00127808" "02326" "ADCK4_000027" "g.41206202C>G" "" "" "" "COQ8B(NM_024876.4):c.1035+13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000926893" "0" "30" "19" "41220518" "41220518" "subst" "0.000426364" "02326" "ADCK4_000028" "g.41220518C>T" "" "" "" "COQ8B(NM_024876.4):c.20G>A (p.G7D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001007429" "1" "70" "19" "41201947" "41201947" "subst" "0" "00006" "ADCK4_000031" "g.41201947C>T" "" "{PMID:Iglesias-Romero 2024:39226897}" "" "" "" "Germline" "" "" "0" "" "" "g.40696042C>T" "" "likely pathogenic (recessive)" ""
"0001007430" "1" "70" "19" "41198015" "41198015" "subst" "8.64409E-5" "00006" "ADCK4_000029" "g.41198015C>T" "" "{PMID:Iglesias-Romero 2024:39226897}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40692110C>T" "" "likely pathogenic (recessive)" ""
"0001007431" "1" "70" "19" "41198015" "41198015" "subst" "8.64409E-5" "00006" "ADCK4_000029" "g.41198015C>T" "" "{PMID:Iglesias-Romero 2024:39226897}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40692110C>T" "" "likely pathogenic (recessive)" ""
"0001007432" "1" "70" "19" "41198015" "41198015" "subst" "8.64409E-5" "00006" "ADCK4_000029" "g.41198015C>T" "" "{PMID:Iglesias-Romero 2024:39226897}" "" "" "" "Germline" "" "" "0" "" "" "g.40692110C>T" "" "likely pathogenic (recessive)" ""
"0001007433" "1" "70" "19" "41198015" "41198015" "subst" "8.64409E-5" "00006" "ADCK4_000029" "g.41198015C>T" "" "{PMID:Iglesias-Romero 2024:39226897}" "" "" "" "Germline" "" "" "0" "" "" "g.40692110C>T" "" "likely pathogenic (recessive)" ""
"0001007434" "2" "70" "19" "41198251" "41198251" "subst" "8.2674E-6" "00006" "ADCK4_000030" "g.41198251C>T" "" "{PMID:Iglesias-Romero 2024:39226897}" "" "" "" "Germline" "" "" "0" "" "" "g.40692346C>T" "" "likely pathogenic (recessive)" ""
"0001007435" "2" "70" "19" "41220218" "41220218" "subst" "0.00380708" "00006" "ADCK4_000033" "g.41220218G>A" "" "{PMID:Iglesias-Romero 2024:39226897}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40714313G>A" "" "likely pathogenic (recessive)" ""
"0001007436" "2" "70" "19" "41220218" "41220218" "subst" "0.00380708" "00006" "ADCK4_000033" "g.41220218G>A" "" "{PMID:Iglesias-Romero 2024:39226897}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40714313G>A" "" "likely pathogenic (recessive)" ""
"0001007437" "2" "70" "19" "41220218" "41220218" "subst" "0.00380708" "00006" "ADCK4_000033" "g.41220218G>A" "" "{PMID:Iglesias-Romero 2024:39226897}" "" "" "" "Germline" "" "" "0" "" "" "g.40714313G>A" "" "likely pathogenic (recessive)" ""
"0001007438" "2" "70" "19" "41211011" "41211011" "subst" "0" "00006" "ADCK4_000032" "g.41211011C>T" "" "{PMID:Iglesias-Romero 2024:39226897}" "" "" "" "Germline" "" "" "0" "" "" "g.40705106C>T" "" "likely pathogenic (recessive)" ""
"0001015795" "0" "70" "19" "41201904" "41201904" "dup" "0" "02326" "ADCK4_000003" "g.41201904dup" "" "" "" "COQ8B(NM_024876.4):c.1199dupA (p.H400Qfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001030086" "3" "50" "19" "41206303" "41206303" "subst" "0" "04333" "ADCK4_000034" "g.41206303A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40700398A>T" "" "VUS" ""
"0001042969" "0" "30" "19" "41198211" "41198211" "subst" "0.000478181" "02326" "ADCK4_000035" "g.41198211T>C" "" "" "" "COQ8B(NM_024876.4):c.1364A>G (p.Y455C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 ADCK4
## Count = 41
"{{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}}"
"0000130160" "00002126" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Trp)" ""
"0000260612" "00002126" "10" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Ser435=)" ""
"0000260613" "00002126" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Trp)" ""
"0000342094" "00002126" "70" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Trp)" ""
"0000346466" "00002126" "90" "1199" "0" "1199" "0" "c.1199dup" "r.(?)" "p.(His400GlnfsTer11)" ""
"0000442702" "00002126" "50" "1448" "0" "1448" "0" "c.1448A>G" "r.(?)" "p.Glu483Gly" ""
"0000567428" "00002126" "30" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ala262Val)" ""
"0000617628" "00002126" "10" "-1716" "0" "-1716" "0" "c.-1716C>G" "r.(?)" "p.(=)" ""
"0000649991" "00002126" "10" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Arg78Cys)" ""
"0000669479" "00002126" "10" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Arg78Cys)" ""
"0000692795" "00002126" "90" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Arg362Ter)" ""
"0000727372" "00002126" "30" "1036" "-3" "1036" "-3" "c.1036-3C>G" "r.spl?" "p.?" ""
"0000808876" "00002126" "90" "1202" "0" "1205" "0" "c.1202_1205dup" "r.(?)" "p.(Glu403Hisfs*9)" ""
"0000808877" "00002126" "30" "1035" "8" "1035" "8" "c.1035+8G>A" "r.(=)" "p.(=)" ""
"0000808878" "00002126" "50" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Ala217Thr)" ""
"0000808879" "00002126" "90" "645" "0" "645" "0" "c.645del" "r.(?)" "p.(Phe215LeufsTer14)" ""
"0000855593" "00002126" "30" "663" "0" "663" "0" "c.663G>A" "r.(?)" "p.(Gly221=)" ""
"0000866134" "00002126" "30" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Phe449=)" ""
"0000873490" "00002126" "70" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Ser246Asn)" ""
"0000873491" "00002126" "70" "748" "0" "748" "0" "c.748G>C" "r.(?)" "p.(Asp250His)" ""
"0000895000" "00002126" "30" "1579" "0" "1579" "0" "c.1579G>A" "r.(?)" "p.(Ala527Thr)" ""
"0000895001" "00002126" "30" "1365" "0" "1365" "0" "c.1365T>C" "r.(?)" "p.(Tyr455=)" ""
"0000895002" "00002126" "30" "1210" "-10" "1210" "-10" "c.1210-10G>C" "r.(=)" "p.(=)" ""
"0000895003" "00002126" "30" "1210" "-10" "1210" "-10" "c.1210-10G>A" "r.(=)" "p.(=)" ""
"0000895004" "00002126" "30" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(Ile402=)" ""
"0000895005" "00002126" "30" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Leu384=)" ""
"0000926892" "00002126" "30" "1035" "13" "1035" "13" "c.1035+13G>C" "r.(=)" "p.(=)" ""
"0000926893" "00002126" "30" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Gly7Asp)" ""
"0001007429" "00002126" "70" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Asp386Asn)" ""
"0001007430" "00002126" "70" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(Trp520Ter)" ""
"0001007431" "00002126" "70" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(Trp520Ter)" ""
"0001007432" "00002126" "70" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(Trp520Ter)" ""
"0001007433" "00002126" "70" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(Trp520Ter)" ""
"0001007434" "00002126" "70" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Val442Met)" ""
"0001007435" "00002126" "70" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Trp)" ""
"0001007436" "00002126" "70" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Trp)" ""
"0001007437" "00002126" "70" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Trp)" ""
"0001007438" "00002126" "70" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Trp189Ter)" ""
"0001015795" "00002126" "70" "1199" "0" "1199" "0" "c.1199dup" "r.(?)" "p.(His400GlnfsTer11)" ""
"0001030086" "00002126" "50" "947" "0" "947" "0" "c.947T>A" "r.(?)" "p.(Leu316Gln)" ""
"0001042969" "00002126" "30" "1364" "0" "1364" "0" "c.1364A>G" "r.(?)" "p.(Tyr455Cys)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 17
"{{screeningid}}" "{{variantid}}"
"0000081074" "0000130160"
"0000211242" "0000442702"
"0000293302" "0000649991"
"0000305791" "0000669479"
"0000415648" "0000873490"
"0000415648" "0000873491"
"0000455327" "0001007429"
"0000455327" "0001007434"
"0000455328" "0001007430"
"0000455328" "0001007435"
"0000455329" "0001007431"
"0000455329" "0001007436"
"0000455330" "0001007432"
"0000455330" "0001007437"
"0000455331" "0001007433"
"0000455331" "0001007438"
"0000466190" "0001030086"