### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NDUFA1)
# 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}}"
"NDUFA1" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa" "X" "q24" "unknown" "NG_009381.1" "UD_132118441144" "" "http://www.LOVD.nl/NDUFA1" "" "1" "7683" "4694" "300078" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
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/NDUFA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 14:29:48" "00006" "2016-06-12 12:36:54" "00000" "2024-08-28 13:16:32"
## 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}}"
"00000637" "NDUFA1" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa" "001" "NM_004541.3" "" "NP_004532.1" "" "" "" "-141" "345" "213" "119005734" "119010629" "00000" "2012-09-13 12:42:08" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{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"
"00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21"
"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"
"00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32"
"05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" ""
"06860" "MC1DN12" "Mi complex I deficiency, nuclear type 12" "XLR" "301020" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"NDUFA1" "00139"
"NDUFA1" "00611"
"NDUFA1" "06860"
## Individuals ## Do not remove or alter this header ##
## Count = 10
"{{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}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00003023" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" ""
"00003024" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" ""
"00073149" "" "" "" "1" "" "01400" "ATX46" "" "M" "" "France" "" "0" "" "" "" ""
"00172538" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00181170" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "68944"
"00294933" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00303024" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat69"
"00305266" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00374614" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5119"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 10
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00003023" "00198"
"00003024" "00198"
"00073149" "04201"
"00172538" "00187"
"00181170" "00344"
"00294933" "00198"
"00303024" "05521"
"00305266" "00198"
"00374614" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00344, 00611, 01157, 04201, 05521, 06860
## Count = 8
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}"
"0000001874" "00198" "00003023" "00130" "Isolated (sporadic)" "" "PMR, Leigh syndrome" "" "" "" "" "" "" "" "" "" "" "" ""
"0000001875" "00198" "00003024" "00130" "Isolated (sporadic)" "" "Myopathy" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" ""
"0000053279" "04201" "00073149" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000137402" "00187" "00172538" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000144007" "00344" "00181170" "02552" "Isolated (sporadic)" "" "" "00y02m" "" "" "" "" "" "" "" "" "" "" ""
"0000230107" "05521" "00303024" "00006" "Familial, X-linked" "" "Epileptic Encephalopathy, childhood onset; age onset childhood" "" "" "" "" "" "" "" "" "" "" "seizures" ""
"0000269824" "00198" "00374614" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Leigh syndrome" ""
## Screenings ## Do not remove or alter this header ##
## Count = 10
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000002929" "00003023" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" ""
"0000002930" "00003024" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" ""
"0000073309" "00073149" "1" "01400" "01400" "2016-06-08 14:36:25" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000173421" "00172538" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" ""
"0000182128" "00181170" "1" "02552" "02552" "2018-10-02 14:42:35" "" "" "SEQ-NG-I" "DNA" "blood" "WES"
"0000296101" "00294933" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000304149" "00303024" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES"
"0000306395" "00305266" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000375808" "00374614" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{geneid}}"
"0000002929" "NDUFA1"
"0000002930" "NDUFA1"
"0000073309" "HEXA"
"0000073309" "NDUFA1"
"0000173421" "RPS6KA3"
"0000304149" "NDUFA1"
"0000375808" "NDUFA1"
## 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 = 31
"{{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}}"
"0000002130" "0" "30" "X" "119007521" "119007521" "dup" "0" "00037" "NDUFA1_000004" "g.119007521dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119873558dup" "" "likely benign" ""
"0000021305" "1" "70" "X" "119005968" "119005968" "subst" "0.0056815" "00130" "NDUFA1_000003" "g.119005968G>C" "" "{PMID:Neveling 2013:24123792}" "" "" "functional validation will be performed" "Germline" "?" "" "0" "" "" "g.119872005G>C" "" "likely pathogenic" ""
"0000021306" "1" "70" "X" "119005968" "119005968" "subst" "0.0056815" "00130" "NDUFA1_000003" "g.119005968G>C" "" "{PMID:Neveling 2013:24123792}" "" "" "functional validation will be performed" "Germline" "?" "" "0" "" "" "g.119872005G>C" "" "likely pathogenic" ""
"0000116944" "0" "30" "X" "119005968" "119005968" "subst" "0.0056815" "01400" "NDUFA1_000003" "g.119005968G>C" "" "" "" "" "" "Germline" "" "rs1801316" "0" "" "" "g.119872005G>C" "" "likely benign" ""
"0000299939" "0" "30" "X" "119005968" "119005968" "subst" "0.0056815" "02326" "NDUFA1_000003" "g.119005968G>C" "" "" "" "NDUFA1(NM_004541.3):c.94G>C (p.(Gly32Arg)), NDUFA1(NM_004541.4):c.94G>C (p.G32R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119872005G>C" "" "likely benign" ""
"0000335337" "0" "30" "X" "119004814" "119004814" "subst" "0.000687923" "01804" "RNF113A_000001" "g.119004814C>T" "" "" "" "RNF113A(NM_006978.2):c.763G>A (p.D255N, p.(Asp255Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119870851C>T" "" "likely benign" ""
"0000393278" "1" "50" "X" "119007305" "119007305" "subst" "0.0022596" "00124" "NDUFA1_000005" "g.119007305G>C" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L47L" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.119873342G>C" "" "VUS" ""
"0000406012" "21" "30" "X" "119005968" "119005968" "subst" "0.0056815" "02552" "NDUFA1_000003" "g.119005968G>C" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs1801316" "0" "" "" "g.119872005G>C" "" "likely benign" ""
"0000573226" "0" "30" "X" "119004571" "119004571" "subst" "0.00811607" "01804" "RNF113A_000003" "g.119004571C>T" "" "" "" "RNF113A(NM_006978.2):c.1006G>A (p.(Asp336Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119870608C>T" "" "likely benign" ""
"0000573227" "0" "30" "X" "119004814" "119004814" "subst" "0.000687923" "01943" "RNF113A_000001" "g.119004814C>T" "" "" "" "RNF113A(NM_006978.2):c.763G>A (p.D255N, p.(Asp255Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119870851C>T" "" "likely benign" ""
"0000573228" "0" "30" "X" "119004842" "119004842" "subst" "0.000123096" "01943" "NDUFA1_000006" "g.119004842C>A" "" "" "" "RNF113A(NM_006978.2):c.735G>T (p.E245D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119870879C>A" "" "likely benign" ""
"0000573229" "0" "30" "X" "119005963" "119005963" "subst" "0.000117617" "01943" "NDUFA1_000007" "g.119005963C>G" "" "" "" "NDUFA1(NM_004541.3):c.89C>G (p.T30S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119872000C>G" "" "likely benign" ""
"0000573230" "0" "30" "X" "119005968" "119005968" "subst" "0.0056815" "02325" "NDUFA1_000003" "g.119005968G>C" "" "" "" "NDUFA1(NM_004541.3):c.94G>C (p.(Gly32Arg)), NDUFA1(NM_004541.4):c.94G>C (p.G32R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119872005G>C" "" "likely benign" ""
"0000624397" "0" "30" "X" "119004980" "119004980" "subst" "0" "01943" "NDUFA1_000008" "g.119004980G>C" "" "" "" "RNF113A(NM_006978.2):c.597C>G (p.P199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119871017G>C" "" "likely benign" ""
"0000624398" "0" "50" "X" "119005316" "119005321" "del" "0" "02325" "NDUFA1_000009" "g.119005316_119005321del" "" "" "" "RNF113A(NM_006978.3):c.265_270delGAGGAA (p.E89_E90del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119871353_119871358del" "" "VUS" ""
"0000624399" "0" "50" "X" "119007340" "119007340" "subst" "1.11866E-5" "01943" "NDUFA1_000010" "g.119007340G>A" "" "" "" "NDUFA1(NM_004541.3):c.176G>A (p.R59H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119873377G>A" "" "VUS" ""
"0000652790" "1" "10" "X" "119005968" "119005968" "subst" "0.0056815" "03575" "NDUFA1_000003" "g.119005968G>C" "7/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous; {DB:CLININrs1801316}" "Germline" "" "rs1801316" "0" "" "" "g.119872005G>C" "" "benign" ""
"0000659060" "0" "50" "X" "119005366" "119005366" "subst" "0" "01943" "RNF113A_000002" "g.119005366G>A" "" "" "" "RNF113A(NM_006978.2):c.211C>T (p.R71C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119871403G>A" "" "VUS" ""
"0000667547" "21" "70" "X" "119007291" "119007291" "subst" "0" "00006" "NDUFA1_000011" "g.119007291T>C" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.119873328T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000670083" "0" "10" "X" "119005968" "119005968" "subst" "0.0056815" "03575" "NDUFA1_000003" "g.119005968G>C" "3/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs1801316}" "Germline" "" "rs1801316" "0" "" "" "g.119872005G>C" "" "benign" ""
"0000682051" "0" "10" "X" "119005968" "119005968" "subst" "0.0056815" "01804" "NDUFA1_000003" "g.119005968G>C" "" "" "" "NDUFA1(NM_004541.3):c.94G>C (p.(Gly32Arg)), NDUFA1(NM_004541.4):c.94G>C (p.G32R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000728366" "0" "30" "X" "119005313" "119005313" "subst" "0.000173773" "01943" "NDUFA1_000012" "g.119005313T>C" "" "" "" "RNF113A(NM_006978.2):c.264A>G (p.E88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000787159" "0" "50" "X" "119007273" "119007273" "subst" "0" "00006" "NDUFA1_000013" "g.119007273A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.119873310A>G" "" "VUS" ""
"0000809821" "0" "30" "X" "119005069" "119005069" "subst" "5.60083E-6" "01943" "NDUFA1_000014" "g.119005069T>C" "" "" "" "RNF113A(NM_006978.2):c.508A>G (p.M170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809822" "0" "30" "X" "119007305" "119007305" "subst" "0.0022596" "01943" "NDUFA1_000005" "g.119007305G>C" "" "" "" "NDUFA1(NM_004541.3):c.141G>C (p.L47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856302" "0" "30" "X" "119004722" "119004722" "subst" "1.11849E-5" "01943" "NDUFA1_000015" "g.119004722A>G" "" "" "" "RNF113A(NM_006978.2):c.855T>C (p.C285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856303" "0" "50" "X" "119005335" "119005337" "del" "0" "02325" "NDUFA1_000017" "g.119005335_119005337del" "" "" "" "RNF113A(NM_006978.3):c.242_244delGCG (p.G81del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000867005" "0" "30" "X" "119004731" "119004731" "subst" "0" "01943" "NDUFA1_000016" "g.119004731G>A" "" "" "" "RNF113A(NM_006978.2):c.846C>T (p.C282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000927247" "0" "50" "X" "119004787" "119004787" "subst" "0" "02327" "NDUFA1_000018" "g.119004787T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000951668" "0" "50" "X" "119005501" "119005501" "subst" "0" "02325" "NDUFA1_000019" "g.119005501C>T" "" "" "" "RNF113A(NM_006978.3):c.76G>A (p.G26R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001006383" "0" "30" "X" "119005448" "119005448" "subst" "0" "01804" "NDUFA1_000020" "g.119005448G>C" "" "" "" "RNF113A(NM_006978.2):c.129C>G (p.(Ser43Arg))" "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 NDUFA1
## Count = 31
"{{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}}"
"0000002130" "00000637" "30" "192" "165" "192" "165" "c.192+165dup" "r.(?)" "p.(=)" "2i"
"0000021305" "00000637" "70" "94" "0" "94" "0" "c.94G>C" "r.(?)" "p.(Gly32Arg)" "1"
"0000021306" "00000637" "70" "94" "0" "94" "0" "c.94G>C" "r.(?)" "p.(Gly32Arg)" "1"
"0000116944" "00000637" "30" "94" "0" "94" "0" "c.94G>C" "r.(?)" "p.(Gly32Arg)" "1"
"0000299939" "00000637" "30" "94" "0" "94" "0" "c.94G>C" "r.(?)" "p.(Gly32Arg)" ""
"0000335337" "00000637" "30" "-1061" "0" "-1061" "0" "c.-1061C>T" "r.(?)" "p.(=)" ""
"0000393278" "00000637" "50" "141" "0" "141" "0" "c.141G>C" "r.(=)" "p.(=)" ""
"0000406012" "00000637" "30" "94" "0" "94" "0" "c.94G>C" "r.(?)" "p.(Gly32Arg)" ""
"0000573226" "00000637" "30" "-1304" "0" "-1304" "0" "c.-1304C>T" "r.(?)" "p.(=)" ""
"0000573227" "00000637" "30" "-1061" "0" "-1061" "0" "c.-1061C>T" "r.(?)" "p.(=)" ""
"0000573228" "00000637" "30" "-1033" "0" "-1033" "0" "c.-1033C>A" "r.(?)" "p.(=)" ""
"0000573229" "00000637" "30" "89" "0" "89" "0" "c.89C>G" "r.(?)" "p.(Thr30Ser)" ""
"0000573230" "00000637" "30" "94" "0" "94" "0" "c.94G>C" "r.(?)" "p.(Gly32Arg)" ""
"0000624397" "00000637" "30" "-895" "0" "-895" "0" "c.-895G>C" "r.(?)" "p.(=)" ""
"0000624398" "00000637" "50" "-559" "0" "-554" "0" "c.-559_-554del" "r.(?)" "p.(=)" ""
"0000624399" "00000637" "50" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59His)" ""
"0000652790" "00000637" "10" "94" "0" "94" "0" "c.94G>C" "r.(?)" "p.(Gly32Arg)" ""
"0000659060" "00000637" "50" "-509" "0" "-509" "0" "c.-509G>A" "r.(?)" "p.(=)" ""
"0000667547" "00000637" "70" "127" "0" "127" "0" "c.127T>C" "r.(?)" "p.(Tyr43His)" ""
"0000670083" "00000637" "10" "94" "0" "94" "0" "c.94G>C" "r.(?)" "p.(Gly32Arg)" ""
"0000682051" "00000637" "10" "94" "0" "94" "0" "c.94G>C" "r.(?)" "p.(Gly32Arg)" ""
"0000728366" "00000637" "30" "-562" "0" "-562" "0" "c.-562T>C" "r.(?)" "p.(=)" ""
"0000787159" "00000637" "50" "109" "0" "109" "0" "c.109A>G" "r.(?)" "p.(Arg37Gly)" "2"
"0000809821" "00000637" "30" "-806" "0" "-806" "0" "c.-806T>C" "r.(?)" "p.(=)" ""
"0000809822" "00000637" "30" "141" "0" "141" "0" "c.141G>C" "r.(?)" "p.(Leu47=)" ""
"0000856302" "00000637" "30" "-1153" "0" "-1153" "0" "c.-1153A>G" "r.(?)" "p.(=)" ""
"0000856303" "00000637" "50" "-540" "0" "-538" "0" "c.-540_-538del" "r.(?)" "p.(=)" ""
"0000867005" "00000637" "30" "-1144" "0" "-1144" "0" "c.-1144G>A" "r.(?)" "p.(=)" ""
"0000927247" "00000637" "50" "-1088" "0" "-1088" "0" "c.-1088T>A" "r.(?)" "p.(=)" ""
"0000951668" "00000637" "50" "-374" "0" "-374" "0" "c.-374C>T" "r.(?)" "p.(=)" ""
"0001006383" "00000637" "30" "-427" "0" "-427" "0" "c.-427G>C" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000002130"
"0000002929" "0000021305"
"0000002930" "0000021306"
"0000073309" "0000116944"
"0000173421" "0000393278"
"0000182128" "0000406012"
"0000296101" "0000652790"
"0000304149" "0000667547"
"0000306395" "0000670083"
"0000375808" "0000787159"