### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFB11) # 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}}" "NDUFB11" "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa" "X" "p11.3" "unknown" "NG_052579.1" "UD_134752164116" "" "https://www.LOVD.nl/NDUFB11" "" "1" "20372" "54539" "300403" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NDUFB11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-04-09 20:33:26" "00000" "2025-11-01 13:22:20" ## 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}}" "00014428" "NDUFB11" "transcript variant 1" "002" "NM_019056.6" "" "NP_061929.2" "" "" "" "-531" "593" "492" "47004609" "47001615" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04592" "LSDMCA3" "skin defects, linear, with multiple congenital anomalies, type 3 (LSDMCA-3)" "XLD" "300952" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "06861" "MC1DN30" "?Mi complex I deficiency, nuclear type 30" "XL" "301021" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NDUFB11" "04592" "NDUFB11" "06861" ## 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}}" "00180279" "" "" "" "1" "" "01261" "{PMID:Reinson 2018:30423443}" "" "M" "" "Estonia" "" "0" "" "" "" "Patient 1" "00180280" "" "" "" "1" "" "01261" "{PMID:Reinson 2018:30423443}" "" "M" "" "Estonia" "" "0" "" "" "" "Patient 2" "00229764" "" "" "" "1" "" "00006" "{PMID:Shehata 2015:25921236}" "" "F" "" "" "6m" "0" "" "" "" "" "00229765" "" "" "" "1" "" "00006" "{PMID:van Rahden 2015:25772934}" "" "F" "" "" "" "0" "" "" "" "" "00229766" "" "" "" "1" "" "00006" "{PMID:Rea 2017:28050600}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00229767" "" "" "" "1" "" "00006" "{PMID:Torraco 2017:27102574}" "" "M" "" "" "" "0" "" "" "" "" "00229768" "" "" "" "1" "" "00006" "{PMID:Lichtenstein 2016:27488349}" "" "M" "" "" "" "0" "" "" "" "" "00229769" "" "" "" "1" "" "00006" "{PMID:Lichtenstein 2016:27488349}" "healthy carrier mother" "M" "" "" "" "0" "" "" "" "" "00229770" "" "" "" "2" "" "00006" "{PMID:Lichtenstein 2016:27488349}" "2-generation family, 2 affected sibs (2M), healthy carrier mother" "M" "" "" "" "0" "" "" "" "FamPat1" "00229771" "" "" "00229770" "1" "" "00006" "{PMID:Lichtenstein 2016:27488349}" "sib2" "M" "" "" "" "0" "" "" "" "FamPat2" "00229772" "" "" "" "1" "" "00006" "{PMID:Lichtenstein 2016:27488349}" "un-known" "M" "" "" "" "0" "" "" "" "" "00229773" "" "" "" "1" "" "00006" "{PMID:Shehata 2015:25921236}" "de novo" "F" "" "" "" "0" "" "" "" "" "00229774" "" "" "" "1" "" "00006" "{PMID:Kohda 2016:26741492}" "de novo" "M" "" "Japan" "3d" "0" "" "" "" "" "00229775" "" "" "" "2" "" "00006" "{PMID:van Rahden 2015:25772934}" "2-generation family, 2 affected (2F), healthy carrier mother" "F" "" "" "" "0" "" "" "" "FamPat1" "00229776" "" "" "00229775" "1" "" "00006" "{PMID:van Rahden 2015:25772934}" "fetus (pregnancy terminated 24w)" "F" "" "" "" "0" "" "" "" "FamPat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00180279" "00611" "00180280" "00611" "00229764" "00611" "00229765" "00611" "00229766" "00611" "00229767" "00611" "00229768" "00611" "00229769" "00611" "00229770" "00611" "00229771" "00611" "00229772" "00611" "00229773" "00611" "00229774" "00611" "00229775" "00611" "00229776" "00611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00611, 04592, 06861 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000172888" "00611" "00180279" "01261" "Isolated (sporadic)" "03y06m" "normal skeletal muscle; normal skin; MRI-brain normal; no epilepsy, EEG-mild background activity depression; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; temporary normocytic anemia; lactic acidosis (serum lactate 2-20 mmol/l); hypertrophic cardiomyopathy" ">00y00m01d" "" "" "" "" "" "" "" "" "0000172889" "00611" "00180280" "01261" "Isolated (sporadic)" "15y" "normal skeletal muscle; normal skin; MRI-brain mild cerebral atrophy; no epilepsy; developmental delay/intellectual disability; optic atrophy; short stature; persistent leukopenia and microcytic anemia; lactic acidosis (CSF lactate 3.1 mmol/l (normal <2.1 mmol/l)); hypertrophic cardiomyopathy; joint contractures, non-progressive mild hearing impairment" ">00y00m01d" "" "03y-04y" "" "" "" "" "" "" "0000172971" "00611" "00229764" "00006" "Isolated (sporadic)" "" "histiocytoid cardiomyopathy" "" "" "" "" "" "" "" "" "MC1DN" "0000172972" "00611" "00229765" "00006" "Isolated (sporadic)" "6m" "axial hypotonia; linear skin defect; lacrimalduct atresia; failure to thrive; no anemia; no lactic acidosis; histiocytoid cardiomyopathy; died at age 6m, autopsy revealed thyroid abnormalities (large and multiple sites of oncocytic metaplasia)" "1d" "" "" "" "" "" "" "" "MC1DN" "0000172973" "00611" "00229766" "00006" "Isolated (sporadic)" "13m" "mild to moderate bulbar palsy; normal skin; MRI-brain focal histiocytoid change in choroid plexus brain; no epilepsy; intermittent squint; no anemia; histiocytoid cardiomyopathy; focal histiocytoid change in the thyroid and lungs" "<0d" "" "" "" "" "" "" "" "MC1DN" "0000172974" "00611" "00229767" "00006" "Isolated (sporadic)" "9y" "normal skeletal muscle; normal skin; MRI-brain normal; no epilepsy; no developmental delay/intellectual disability; normal growth; congenital sideroblastic anemia; lactic acidosis (4.2-8.2 mmol/l); fetal tachycardia and hypertrophy ventricular walls with moderate trabeculature right ventricle; dysmorphic features: hypertelorism, saddle nose, low set ears; hepatosplenomegaly and hydrocele" "<0d" "" "" "" "" "" "" "" "MC1DN" "0000172975" "00611" "00229768" "00006" "Isolated (sporadic)" "2y" "normal skin; no epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; short stature; congenital sideroblastic anemia; no; no cardiac abnormality" ">0d" "" "" "" "" "" "" "" "MC1DN" "0000172976" "00611" "00229769" "00006" "Familial" "23y" "myopathy; normal skin; no epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; congenital sideroblastic anemia; lactic acidosis; no cardiac abnormality" "" "" "" "" "" "" "" "" "MC1DN" "0000172977" "00611" "00229770" "00006" "Familial, X-linked recessive" "20y" "normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality" "<0d" "" "" "" "" "" "" "" "MC1DN" "0000172978" "00611" "00229771" "00006" "Familial, X-linked recessive" "16y" "normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality" "<0d" "" "" "" "" "" "" "" "MC1DN" "0000172979" "00611" "00229772" "00006" "Unknown" "8y" "myopathy; normal skin; epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality; single kidney, pulmonary stenosis, congenial inguinal hernia" "<0d" "" "" "" "" "" "" "" "MC1DN" "0000172980" "00611" "00229773" "00006" "Isolated (sporadic)" "" "histiocytoid cardiomyopathy" "" "" "" "" "" "" "" "" "MC1DN" "0000172981" "00611" "00229774" "00006" "Isolated (sporadic)" "3d" "redundant skin; intrauterine growth restriction; heart failure; died at age 55h" "<0d" "" "" "" "" "" "" "" "MC1DN" "0000172982" "00611" "00229775" "00006" "Familial, X-linked recessive" "4y6m" "linear skin defect; MRI-brain corpus callosum agenesis, dilated lateral ventricles; epilepsy; severe global developmental delay; myopia, nystagmus, strabismus; failure to thrive; no anemia; no lactic acidosis; dilated cardiomyopathy" "" "" "" "" "" "" "" "" "MC1DN" "0000172983" "00611" "00229776" "00006" "Familial, X-linked recessive" "<0d" "MRI-brain corpus callosum dysgenesis, connected lateral ventricles, small cerebellum and cavum septum pellucidum; intrauterine growth restriction; thickened myocardium and pericardial effusion" "<0d" "" "" "" "" "" "" "" "MC1DN" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181214" "00180279" "1" "01261" "01261" "2018-09-02 20:12:02" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000181215" "00180280" "1" "01261" "01261" "2018-09-02 20:16:59" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000230857" "00229764" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230858" "00229765" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230859" "00229766" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230860" "00229767" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230861" "00229768" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230862" "00229769" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230863" "00229770" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230864" "00229771" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230865" "00229772" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230866" "00229773" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230867" "00229774" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230868" "00229775" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" "0000230869" "00229776" "1" "00006" "00006" "2019-04-09 21:34:13" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000230857" "NDUFB11" "0000230858" "NDUFB11" "0000230859" "NDUFB11" "0000230860" "NDUFB11" "0000230861" "NDUFB11" "0000230862" "NDUFB11" "0000230863" "NDUFB11" "0000230864" "NDUFB11" "0000230865" "NDUFB11" "0000230866" "NDUFB11" "0000230867" "NDUFB11" "0000230868" "NDUFB11" "0000230869" "NDUFB11" ## 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 = 35 "{{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}}" "0000302958" "0" "30" "X" "47003927" "47003927" "subst" "0.000407296" "01943" "NDUFB11_000007" "g.47003927G>T" "" "" "" "NDUFB11(NM_001135998.2):c.152C>A (p.(Pro51Gln)), NDUFB11(NM_019056.6):c.152C>A (p.P51Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47144528G>T" "" "likely benign" "" "0000302959" "0" "50" "X" "47001820" "47001820" "subst" "2.8012E-5" "01943" "NDUFB11_000002" "g.47001820G>A" "" "" "" "NDUFB11(NM_019056.6):c.388C>T (p.R130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47142421G>A" "" "VUS" "" "0000333885" "0" "30" "X" "47001819" "47001819" "subst" "2.2412E-5" "01804" "NDUFB11_000001" "g.47001819C>T" "" "" "" "NDUFB11(NM_001135998.3):c.359G>A (p.(Arg120His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47142420C>T" "" "likely benign" "" "0000333886" "0" "50" "X" "47001990" "47001990" "subst" "0" "01804" "NDUFB11_000003" "g.47001990A>G" "" "" "" "NDUFB11(NM_019056.6):c.361T>C (p.(Trp121Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47142591A>G" "" "VUS" "" "0000333888" "0" "30" "X" "47003866" "47003866" "subst" "0" "01804" "NDUFB11_000005" "g.47003866T>C" "" "" "" "NDUFB11(NM_001135998.2):c.207+6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47144467T>C" "" "likely benign" "" "0000333889" "0" "30" "X" "47003868" "47003868" "subst" "0.0299713" "01804" "NDUFB11_000006" "g.47003868T>C" "" "" "" "NDUFB11(NM_001135998.2):c.207+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47144469T>C" "" "likely benign" "" "0000404892" "0" "90" "X" "47002023" "47002023" "subst" "0" "01261" "NDUFB11_000008" "g.47002023G>A" "gnomAD: 0" "{PMID:Reinson 2018:30423443}" "" "" "" "De novo" "-" "" "0" "" "" "g.47142624G>A" "" "pathogenic" "" "0000404893" "0" "90" "X" "47002065" "47002065" "subst" "0" "01261" "NDUFB11_000009" "g.47002065A>G" "gnomAD: 0" "{PMID:Reinson 2018:30423443}" "" "" "" "De novo" "" "" "0" "" "" "g.47142666A>G" "" "pathogenic" "" "0000472485" "0" "90" "X" "47002097" "47002097" "subst" "0" "00006" "NDUFB11_000010" "g.47002097C>T" "" "{PMID:Shehata 2015:25921236}" "" "" "" "De novo" "" "" "0" "" "" "g.47142698C>T" "" "pathogenic" "" "0000472486" "0" "90" "X" "47002089" "47002089" "subst" "0" "00006" "NDUFB11_000011" "g.47002089G>A" "" "{PMID:van Rahden 2015:25772934}" "" "" "" "De novo" "" "" "0" "" "" "g.47142690G>A" "" "pathogenic" "" "0000472487" "0" "90" "X" "47002089" "47002089" "subst" "0" "00006" "NDUFB11_000011" "g.47002089G>A" "" "{PMID:Rea 2017:28050600}" "" "" "" "De novo" "" "" "0" "" "" "g.47142690G>A" "" "pathogenic" "" "0000472488" "0" "90" "X" "47002080" "47002082" "del" "0" "00006" "NDUFB11_000012" "g.47002080_47002082del" "" "{PMID:Torraco 2017:27102574}" "" "c.276_278delCTT" "" "De novo" "" "" "0" "" "" "g.47142681_47142683del" "" "pathogenic" "" "0000472489" "0" "90" "X" "47002080" "47002082" "del" "0" "00006" "NDUFB11_000012" "g.47002080_47002082del" "" "{PMID:Lichtenstein 2016:27488349}" "" "c.276_278delCTT" "" "De novo" "" "" "0" "" "" "g.47142681_47142683del" "" "pathogenic" "" "0000472490" "21" "90" "X" "47002080" "47002082" "del" "0" "00006" "NDUFB11_000012" "g.47002080_47002082del" "" "{PMID:Lichtenstein 2016:27488349}" "" "c.276_278delCTT" "" "Germline" "" "" "0" "" "" "g.47142681_47142683del" "" "pathogenic (recessive)" "" "0000472491" "21" "90" "X" "47002080" "47002082" "del" "0" "00006" "NDUFB11_000012" "g.47002080_47002082del" "" "{PMID:Lichtenstein 2016:27488349}" "" "c.276_278delCTT" "" "Germline" "yes" "" "0" "" "" "g.47142681_47142683del" "" "pathogenic (recessive)" "" "0000472492" "21" "90" "X" "47002080" "47002082" "del" "0" "00006" "NDUFB11_000012" "g.47002080_47002082del" "" "{PMID:Lichtenstein 2016:27488349}" "" "c.276_278delCTT" "" "Germline" "yes" "" "0" "" "" "g.47142681_47142683del" "" "pathogenic (recessive)" "" "0000472493" "0" "90" "X" "47002080" "47002082" "del" "0" "00006" "NDUFB11_000012" "g.47002080_47002082del" "" "{PMID:Lichtenstein 2016:27488349}" "" "c.276_278delCTT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47142681_47142683del" "" "pathogenic" "" "0000472494" "0" "90" "X" "0" "0" "" "0" "00006" "NDUFB11_000013" "g.?" "" "{PMID:Shehata 2015:25921236}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000472495" "0" "90" "X" "47001817" "47001817" "subst" "0" "00006" "NDUFB11_000014" "g.47001817C>T" "" "{PMID:Kohda 2016:26741492}" "" "NM_00113599 c.361G>A (E121K)" "" "De novo" "" "" "0" "" "" "g.47142418C>T" "" "pathogenic" "" "0000472496" "21" "90" "X" "47001807" "47001807" "del" "0" "00006" "NDUFB11_000015" "g.47001807del" "" "{PMID:van Rahden 2015:25772934}" "" "c.402delG" "" "Germline" "yes" "" "0" "" "" "g.47142408del" "" "pathogenic (recessive)" "" "0000472497" "21" "90" "X" "47001807" "47001807" "del" "0" "00006" "NDUFB11_000015" "g.47001807del" "" "{PMID:van Rahden 2015:25772934}" "" "c.402delG" "" "Germline" "yes" "" "0" "" "" "g.47142408del" "" "pathogenic (recessive)" "" "0000576082" "0" "30" "X" "47001975" "47001975" "subst" "5.71781E-6" "01804" "RBM10_000024" "g.47001975C>T" "" "" "" "NDUFB11(NM_019056.6):c.368+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47142576C>T" "" "likely benign" "" "0000576083" "0" "30" "X" "47003870" "47003870" "subst" "0.0105956" "01804" "RBM10_000025" "g.47003870A>C" "" "" "" "NDUFB11(NM_001135998.2):c.207+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47144471A>C" "" "likely benign" "" "0000576084" "0" "30" "X" "47003873" "47003873" "subst" "0.00202993" "01804" "RBM10_000026" "g.47003873T>C" "" "" "" "NDUFB11(NM_001135998.2):c.206A>G (p.(Lys69Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47144474T>C" "" "likely benign" "" "0000576085" "0" "30" "X" "47003874" "47003874" "subst" "0.0016623" "01804" "RBM10_000027" "g.47003874T>C" "" "" "" "NDUFB11(NM_001135998.2):c.205A>G (p.(Lys69Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47144475T>C" "" "likely benign" "" "0000576086" "0" "30" "X" "47003927" "47003927" "subst" "0.000407296" "01804" "NDUFB11_000007" "g.47003927G>T" "" "" "" "NDUFB11(NM_001135998.2):c.152C>A (p.(Pro51Gln)), NDUFB11(NM_019056.6):c.152C>A (p.P51Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47144528G>T" "" "likely benign" "" "0000576087" "0" "30" "X" "47004861" "47004861" "subst" "0.0183356" "01804" "RBM10_000028" "g.47004861T>C" "" "" "" "RBM10(NM_001204466.1):c.-149T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47145462T>C" "" "likely benign" "" "0000810410" "0" "30" "X" "47004011" "47004011" "subst" "0" "01943" "RBM10_000045" "g.47004011G>A" "" "" "" "NDUFB11(NM_019056.6):c.68C>T (p.P23L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915718" "0" "10" "X" "47003857" "47003857" "subst" "0" "02325" "RBM10_000050" "g.47003857C>G" "" "" "" "NDUFB11(NM_019056.7):c.207+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927374" "0" "50" "X" "47002032" "47002032" "subst" "0" "02325" "RBM10_000051" "g.47002032C>T" "" "" "" "NDUFB11(NM_019056.7):c.319G>A (p.A107T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931418" "0" "50" "X" "47004891" "47004891" "subst" "0" "02325" "RBM10_000052" "g.47004891G>T" "" "" "" "RBM10(NM_005676.5):c.-126+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006765" "0" "50" "X" "47003872" "47003872" "subst" "0" "01804" "RBM10_000054" "g.47003872C>T" "" "" "" "NDUFB11(NM_001135998.2):c.207G>A (p.(Lys69Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006766" "0" "50" "X" "47004887" "47004887" "subst" "1.06645E-5" "01804" "RBM10_000055" "g.47004887G>A" "" "" "" "RBM10(NM_005676.4):c.-126+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057320" "0" "50" "X" "47003879" "47003879" "subst" "0" "01804" "RBM10_000056" "g.47003879T>C" "" "" "" "NDUFB11(NM_001135998.3):c.200A>G (p.(Tyr67Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057321" "0" "50" "X" "47006759" "47006759" "subst" "0" "01804" "RBM10_000057" "g.47006759C>T" "" "" "" "RBM10(NM_001204468.2):c.74C>T (p.(Ser25Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NDUFB11 ## Count = 35 "{{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}}" "0000302958" "00014428" "30" "152" "0" "152" "0" "c.152C>A" "r.(?)" "p.(Pro51Gln)" "" "0000302959" "00014428" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" "" "0000333885" "00014428" "30" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130His)" "" "0000333886" "00014428" "50" "361" "0" "361" "0" "c.361T>C" "r.(?)" "p.(Trp121Arg)" "" "0000333888" "00014428" "30" "207" "6" "207" "6" "c.207+6A>G" "r.(=)" "p.(=)" "" "0000333889" "00014428" "30" "207" "4" "207" "4" "c.207+4A>G" "r.spl?" "p.?" "" "0000404892" "00014428" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Pro110Ser)" "2" "0000404893" "00014428" "90" "286" "0" "286" "0" "c.286T>C" "r.(?)" "p.(Ser96Pro)" "2" "0000472485" "00014428" "90" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Trp85*)" "" "0000472486" "00014428" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88*)" "" "0000472487" "00014428" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88*)" "" "0000472488" "00014428" "90" "276" "0" "278" "0" "c.276_278del" "r.(?)" "p.(Phe93del)" "" "0000472489" "00014428" "90" "276" "0" "278" "0" "c.276_278del" "r.(?)" "p.(Phe93del)" "" "0000472490" "00014428" "90" "276" "0" "278" "0" "c.276_278del" "r.(?)" "p.(Phe93del)" "" "0000472491" "00014428" "90" "276" "0" "278" "0" "c.276_278del" "r.(?)" "p.(Phe93del)" "" "0000472492" "00014428" "90" "276" "0" "278" "0" "c.276_278del" "r.(?)" "p.(Phe93del)" "" "0000472493" "00014428" "90" "276" "0" "278" "0" "c.276_278del" "r.(?)" "p.(Phe93del)" "" "0000472494" "00014428" "90" "324" "0" "324" "0" "c.324T>G" "r.(?)" "p.(Tyr108*)" "" "0000472495" "00014428" "90" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Glu131Lys)" "" "0000472496" "00014428" "90" "402" "0" "402" "0" "c.402del" "r.(?)" "p.(Arg134Serfs*3)" "" "0000472497" "00014428" "90" "402" "0" "402" "0" "c.402del" "r.(?)" "p.(Arg134Serfs*3)" "" "0000576082" "00014428" "30" "368" "8" "368" "8" "c.368+8G>A" "r.(=)" "p.(=)" "" "0000576083" "00014428" "30" "207" "2" "207" "2" "c.207+2T>G" "r.spl?" "p.?" "" "0000576084" "00014428" "30" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(Lys69Arg)" "" "0000576085" "00014428" "30" "205" "0" "205" "0" "c.205A>G" "r.(?)" "p.(Lys69Glu)" "" "0000576086" "00014428" "30" "152" "0" "152" "0" "c.152C>A" "r.(?)" "p.(Pro51Gln)" "" "0000576087" "00014428" "30" "-783" "0" "-783" "0" "c.-783A>G" "r.(?)" "p.(=)" "" "0000810410" "00014428" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Pro23Leu)" "" "0000915718" "00014428" "10" "207" "15" "207" "15" "c.207+15G>C" "r.(=)" "p.(=)" "" "0000927374" "00014428" "50" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Ala107Thr)" "" "0000931418" "00014428" "50" "-813" "0" "-813" "0" "c.-813C>A" "r.(?)" "p.(=)" "" "0001006765" "00014428" "50" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(=)" "" "0001006766" "00014428" "50" "-809" "0" "-809" "0" "c.-809C>T" "r.(?)" "p.(=)" "" "0001057320" "00014428" "50" "200" "0" "200" "0" "c.200A>G" "r.(?)" "p.(Tyr67Cys)" "" "0001057321" "00014428" "50" "-2681" "0" "-2681" "0" "c.-2681G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000181214" "0000404892" "0000181215" "0000404893" "0000230857" "0000472485" "0000230858" "0000472486" "0000230859" "0000472487" "0000230860" "0000472488" "0000230861" "0000472489" "0000230862" "0000472490" "0000230863" "0000472491" "0000230864" "0000472492" "0000230865" "0000472493" "0000230866" "0000472494" "0000230867" "0000472495" "0000230868" "0000472496" "0000230869" "0000472497"