### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCO2) # 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}}" "SCO2" "SCO2 cytochrome c oxidase assembly protein" "22" "q13.33" "unknown" "NC_000022.10" "UD_132084537857" "" "https://www.LOVD.nl/SCO2" "" "1" "10604" "9997" "604272" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-09-14 10:07:30" "00006" "2026-09-14 10:18:32" ## 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}}" "00018534" "SCO2" "SCO cytochrome oxidase deficient homolog 2 (yeast), transcript variant 1" "003" "NM_005138.2" "" "NP_005129.2" "" "" "" "-147" "844" "801" "50964034" "50961997" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "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" "02504" "CEMCOX1" "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" "AR" "604377" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02803" "MYP6" "myopia, type 6 (MYP6)" "AD" "608908" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-07-23 10:35:51" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SCO2" "00139" "SCO2" "02504" "SCO2" "02803" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00036997" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050428" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00274182" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat54" "00293157" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296593" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "F" "" "Poland" "18m" "0" "" "" "" "Pat26" "00377599" "" "" "" "1" "" "01164" "" "" "M" "likely" "" "" "0" "" "" "Persian" "161234" "00446782" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat58" "00446810" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat96" "00469342" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469343" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00471302" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "IS-DYS-415" "00473024" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam6117Pat132" "00483280" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00483281" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00483282" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00483283" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00484814" "" "" "" "1" "" "00006" "{PMID:Vondrackova 2014:23838601}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Czech Republic" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00050428" "00198" "00274182" "00198" "00293157" "00198" "00296593" "00198" "00377599" "02504" "00446782" "04173" "00446810" "04173" "00469342" "00198" "00469343" "00198" "00471302" "00108" "00473024" "05123" "00483280" "00000" "00483281" "00000" "00483282" "00000" "00483283" "00000" "00484814" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00108, 00139, 00198, 02504, 02803, 04173, 05123 ## Count = 11 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037040" "00198" "00050428" "00006" "Isolated (sporadic)" "" "generalized hypotonia, global developmental delay" "" "" "" "" "" "" "" "" "" "" "0000209127" "00198" "00274182" "00006" "Familial, autosomal recessive" "" "deceased; mitochondrial disease criteria score 6; muscle biopsy" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000223999" "00198" "00296593" "00006" "Unknown" "18m" "deceased; muscle affected; central nervous system affected; heart not affected; liver not affected; failure to thrive, elevated cerebrospinal fluid lactate" "7m" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000272751" "02504" "00377599" "01164" "Familial, autosomal recessive" "13y" "Neuromuscular disease or hereditary sensory-motor neuropathy (axonal) with paraparesis of the legs, contractures of the ankle and metacarpophalangeal joints of the thumb, atrophy of the calf and foot muscles as well as the hand muscles, tongue fasciculations, tremor of the hands, Pes cavus on both sides, loss of the ability to walk at the age of 11. Younger brother with possible onset of similar symptoms" "" "" "" "" "" "" "" "" "" "" "0000335986" "04173" "00446782" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336014" "04173" "00446810" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000354495" "00198" "00469342" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354496" "00198" "00469343" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000356139" "00108" "00471302" "00006" "Familial, autosomal recessive" "" "isolated dystonia, coexisting non-movement disorder-related neurological symptoms; onset infancy (0-2y); generalized dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "dystonia" "" "0000357819" "05123" "00473024" "00006" "Unknown" "13y" "onset 11y with lower limbs muscle weakness, distal and abnormality of gait; Distal motor neuropathy; Pes cavus; Increased level of CPK; EMG-NCV: hereditary motor neuron disease suggestive of distal SMA." "" "" "" "" "" "" "" "" "spinal myscular atrophy" "" "0000367597" "00198" "00484814" "00006" "Unknown" "00y14m" "see paper; ..., myoclonic movements, extremities; 9m-severe hypotonic syndrome, failure to thrive, bilateral ptosis, divergent strabismus, ataxia, regression psychomotor development" "" "" "" "" "" "" "" "" "myoclonic movements extremities" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037067" "00036997" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050373" "00050428" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000275337" "00274182" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000294325" "00293157" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297703" "00296593" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000378803" "00377599" "1" "01164" "01164" "2021-08-02 10:53:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000448357" "00446782" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448385" "00446810" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471010" "00469342" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471011" "00469343" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472972" "00471302" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000474693" "00473024" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000484928" "00483280" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484929" "00483281" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484930" "00483282" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484931" "00483283" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000486469" "00484814" "1" "00006" "00006" "2026-09-14 10:00:53" "" "" "arrayCGH;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000037067" "SCO2" "0000275337" "SCO2" "0000378803" "SCO2" "0000486469" "TYMP" ## 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 = 123 "{{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}}" "0000064192" "1" "90" "22" "50962478" "50962478" "dup" "0" "01164" "SCO2_000001" "g.50962478dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50524049dup" "" "pathogenic" "" "0000079353" "0" "90" "22" "47182944" "51666786" "del" "0" "00006" "ALG12_000022" "g.47182944_51666786del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.56 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000291005" "0" "30" "22" "50945401" "50945401" "subst" "0" "01943" "LMF2_000006" "g.50945401C>A" "" "" "" "LMF2(NM_033200.3):c.158G>T (p.R53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50506972C>A" "" "likely benign" "" "0000292997" "0" "10" "22" "50962259" "50962259" "subst" "0.0510657" "02330" "NCAPH2_000007" "g.50962259G>A" "" "" "" "NCAPH2(NM_001185011.2):c.*455G>A, SCO2(NM_001169109.2):c.582C>T (p.S194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523830G>A" "" "benign" "" "0000295696" "0" "30" "22" "50962640" "50962640" "subst" "0.00232032" "02330" "NCAPH2_000010" "g.50962640G>A" "" "" "" "SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524211G>A" "" "likely benign" "" "0000295697" "0" "10" "22" "50962782" "50962782" "subst" "0.639001" "02330" "NCAPH2_000012" "g.50962782C>G" "" "" "" "NCAPH2(NM_001185011.2):c.*978C>G, SCO2(NM_001169109.2):c.59G>C (p.R20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524353C>G" "" "benign" "" "0000295698" "0" "10" "22" "50962208" "50962208" "subst" "0.640322" "02330" "NCAPH2_000005" "g.50962208T>G" "" "" "" "NCAPH2(NM_001185011.2):c.*404T>G, SCO2(NM_001169109.2):c.633A>C (p.A211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523779T>G" "" "benign" "" "0000295699" "0" "30" "22" "50962078" "50962078" "subst" "0.00563884" "02330" "NCAPH2_000003" "g.50962078G>T" "" "" "" "NCAPH2(NM_001185011.2):c.*274G>T, SCO2(NM_001169109.1):c.763C>A (p.(Arg255=)), SCO2(NM_001169109.2):c.763C>A (p.R255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523649G>T" "" "likely benign" "" "0000298038" "0" "10" "22" "50964255" "50964255" "subst" "0.0459774" "02325" "TYMP_000058" "g.50964255C>T" "" "" "" "SCO2(NM_001169109.2):c.-14+420G>A, TYMP(NM_001113755.2):c.1393G>A (p.(Ala465Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50525826C>T" "" "benign" "" "0000298039" "0" "10" "22" "50964236" "50964236" "subst" "0.127677" "02325" "TYMP_000057" "g.50964236G>A" "" "" "" "SCO2(NM_001169109.1):c.-14+439C>T, SCO2(NM_001169109.2):c.-14+439C>T, TYMP(NM_001953.5):c.1412C>T (p.S471L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50525807G>A" "" "benign" "" "0000298040" "0" "10" "22" "50964862" "50964862" "subst" "0.61063" "02325" "TYMP_000062" "g.50964862G>A" "" "" "" "SCO2(NM_001169109.2):c.-201C>T, TYMP(NM_001113756.3):c.972C>T (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50526433G>A" "" "benign" "" "0000298041" "0" "30" "22" "50962640" "50962640" "subst" "0.00232032" "02325" "NCAPH2_000010" "g.50962640G>A" "" "" "" "SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524211G>A" "" "likely benign" "" "0000298042" "0" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "02325" "NCAPH2_000009" "g.50962423C>T" "" "" "" "SCO2(NM_001169109.1):c.418G>A (p.E140K), SCO2(NM_001169109.2):c.418G>A (p.E140K), SCO2(NM_005138.3):c.418G>A (p.(Glu140Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523994C>T" "" "pathogenic" "" "0000298043" "0" "10" "22" "50962782" "50962782" "subst" "0.639001" "02325" "NCAPH2_000012" "g.50962782C>G" "" "" "" "NCAPH2(NM_001185011.2):c.*978C>G, SCO2(NM_001169109.2):c.59G>C (p.R20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524353C>G" "" "benign" "" "0000298044" "0" "10" "22" "50962208" "50962208" "subst" "0.640322" "02325" "NCAPH2_000005" "g.50962208T>G" "" "" "" "NCAPH2(NM_001185011.2):c.*404T>G, SCO2(NM_001169109.2):c.633A>C (p.A211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523779T>G" "" "benign" "" "0000298045" "0" "30" "22" "50962103" "50962103" "subst" "0.000121842" "02325" "NCAPH2_000004" "g.50962103C>G" "" "" "" "SCO2(NM_001169109.2):c.738G>C (p.S246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523674C>G" "" "likely benign" "" "0000298046" "0" "30" "22" "50962078" "50962078" "subst" "0.00563884" "02325" "NCAPH2_000003" "g.50962078G>T" "" "" "" "NCAPH2(NM_001185011.2):c.*274G>T, SCO2(NM_001169109.1):c.763C>A (p.(Arg255=)), SCO2(NM_001169109.2):c.763C>A (p.R255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523649G>T" "" "likely benign" "" "0000301994" "0" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "02326" "NCAPH2_000009" "g.50962423C>T" "" "" "" "SCO2(NM_001169109.1):c.418G>A (p.E140K), SCO2(NM_001169109.2):c.418G>A (p.E140K), SCO2(NM_005138.3):c.418G>A (p.(Glu140Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523994C>T" "" "pathogenic" "" "0000307837" "0" "30" "22" "50962646" "50962646" "subst" "5.88048E-5" "01943" "NCAPH2_000011" "g.50962646G>C" "" "" "" "SCO2(NM_001169109.1):c.195C>G (p.G65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524217G>C" "" "likely benign" "" "0000307838" "0" "50" "22" "50962075" "50962075" "subst" "4.06283E-6" "01943" "NCAPH2_000002" "g.50962075G>A" "" "" "" "SCO2(NM_001169109.1):c.766C>T (p.R256W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523646G>A" "" "VUS" "" "0000329121" "0" "50" "22" "50943101" "50943101" "subst" "0.000200478" "01804" "LMF2_000003" "g.50943101A>G" "" "" "" "LMF2(NM_033200.2):c.1493T>C (p.(Val498Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50504672A>G" "" "VUS" "" "0000329127" "0" "50" "22" "50962837" "50962837" "subst" "8.49329E-6" "01804" "NCAPH2_000013" "g.50962837G>C" "" "" "" "SCO2(NM_001169109.1):c.4C>G (p.(Leu2Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524408G>C" "" "VUS" "" "0000329128" "0" "50" "22" "50964435" "50964435" "subst" "0.000593336" "01804" "TYMP_000059" "g.50964435C>T" "" "" "" "TYMP(NM_001257988.1):c.1295G>A (p.(Arg432His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50526006C>T" "" "VUS" "" "0000329130" "0" "30" "22" "50964599" "50964599" "subst" "0.0371603" "01804" "TYMP_000061" "g.50964599G>C" "" "" "" "TYMP(NM_001113755.2):c.1160-29C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50526170G>C" "" "likely benign" "" "0000329131" "0" "30" "22" "50964913" "50964916" "del" "0" "01804" "TYMP_000009" "g.50964913_50964916del" "" "" "" "TYMP(NM_001113755.2):c.929-6_929-3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50526484_50526487del" "" "likely benign" "" "0000329135" "0" "30" "22" "50967912" "50967912" "subst" "0.00909369" "01804" "TYMP_000012" "g.50967912C>T" "" "" "" "TYMP(NM_001113755.2):c.214+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50529483C>T" "" "likely benign" "" "0000329136" "0" "50" "22" "50969220" "50969220" "subst" "5.23158E-5" "01804" "ODF3B_000001" "g.50969220T>C" "" "" "" "ODF3B(NM_001014440.3):c.602A>G (p.(Gln201Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50530791T>C" "" "VUS" "" "0000572393" "0" "30" "22" "50962078" "50962078" "subst" "0.00563884" "01804" "NCAPH2_000003" "g.50962078G>T" "" "" "" "NCAPH2(NM_001185011.2):c.*274G>T, SCO2(NM_001169109.1):c.763C>A (p.(Arg255=)), SCO2(NM_001169109.2):c.763C>A (p.R255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50523649G>T" "" "likely benign" "" "0000572394" "0" "50" "22" "50962305" "50962305" "subst" "4.47024E-5" "01804" "NCAPH2_000014" "g.50962305C>T" "" "" "" "SCO2(NM_001169109.1):c.536G>A (p.(Arg179His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50523876C>T" "" "VUS" "" "0000572395" "0" "30" "22" "50962605" "50962605" "subst" "4.1738E-5" "02325" "NCAPH2_000015" "g.50962605C>G" "" "" "" "SCO2(NM_001169109.2):c.236G>C (p.R79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50524176C>G" "" "likely benign" "" "0000572396" "0" "50" "22" "50962663" "50962663" "subst" "8.4513E-6" "01943" "NCAPH2_000016" "g.50962663G>A" "" "" "" "SCO2(NM_001169109.1):c.178C>T (p.R60W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50524234G>A" "" "VUS" "" "0000572397" "0" "10" "22" "50964446" "50964446" "subst" "0.111923" "02327" "TYMP_000004" "g.50964446A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526017A>T" "" "benign" "" "0000572398" "0" "10" "22" "50964862" "50964862" "subst" "0.61063" "02327" "TYMP_000062" "g.50964862G>A" "" "" "" "SCO2(NM_001169109.2):c.-201C>T, TYMP(NM_001113756.3):c.972C>T (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526433G>A" "" "benign" "" "0000572399" "0" "30" "22" "50967740" "50967740" "subst" "0.00130046" "01943" "TYMP_000063" "g.50967740C>T" "" "" "" "TYMP(NM_001113755.2):c.242G>A (p.(Arg81Gln)), TYMP(NM_001113756.2):c.242G>A (p.R81Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529311C>T" "" "likely benign" "" "0000572400" "0" "30" "22" "50967740" "50967740" "subst" "0.00130046" "01804" "TYMP_000063" "g.50967740C>T" "" "" "" "TYMP(NM_001113755.2):c.242G>A (p.(Arg81Gln)), TYMP(NM_001113756.2):c.242G>A (p.R81Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529311C>T" "" "likely benign" "" "0000572401" "0" "30" "22" "50967945" "50967945" "subst" "0.000521745" "01804" "TYMP_000065" "g.50967945C>T" "" "" "" "TYMP(NM_001113755.2):c.194G>A (p.(Ser65Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529516C>T" "" "likely benign" "" "0000572402" "0" "30" "22" "50968109" "50968109" "subst" "3.78097E-5" "01804" "TYMP_000064" "g.50968109C>T" "" "" "" "TYMP(NM_001113755.2):c.30G>A (p.(Gly10=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529680C>T" "" "likely benign" "" "0000572404" "0" "50" "22" "50969245" "50969245" "del" "0" "01804" "NCAPH2_000021" "g.50969245del" "" "" "" "ODF3B(NM_001014440.3):c.580delG (p.(Val194SerfsTer55))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50530816del" "" "VUS" "" "0000618645" "0" "30" "22" "50962331" "50962331" "subst" "0" "01943" "NCAPH2_000022" "g.50962331C>G" "" "" "" "SCO2(NM_001169109.1):c.510G>C (p.E170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50523902C>G" "" "likely benign" "" "0000618646" "0" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "01943" "NCAPH2_000009" "g.50962423C>T" "" "" "" "SCO2(NM_001169109.1):c.418G>A (p.E140K), SCO2(NM_001169109.2):c.418G>A (p.E140K), SCO2(NM_005138.3):c.418G>A (p.(Glu140Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50523994C>T" "" "pathogenic" "" "0000618647" "0" "10" "22" "50964255" "50964255" "subst" "0.0459774" "02327" "TYMP_000058" "g.50964255C>T" "" "" "" "SCO2(NM_001169109.2):c.-14+420G>A, TYMP(NM_001113755.2):c.1393G>A (p.(Ala465Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50525826C>T" "" "benign" "" "0000624333" "0" "30" "22" "50962640" "50962640" "subst" "0.00232032" "01943" "NCAPH2_000010" "g.50962640G>A" "" "" "" "SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50524211G>A" "" "likely benign" "" "0000624334" "0" "30" "22" "50965683" "50965683" "subst" "0.000150457" "01943" "TYMP_000028" "g.50965683C>T" "" "" "" "TYMP(NM_001113755.2):c.676G>A (p.(Gly226Arg)), TYMP(NM_001113756.2):c.676G>A (p.G226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50527254C>T" "" "likely benign" "" "0000629301" "3" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "00006" "NCAPH2_000009" "g.50962423C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50523994C>T" "" "pathogenic" "" "0000651014" "1" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "03575" "NCAPH2_000009" "g.50962423C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs74315511}" "Germline" "" "rs74315511" "0" "" "" "g.50523994C>T" "" "pathogenic" "" "0000658983" "0" "30" "22" "50966144" "50966144" "subst" "0.000377818" "01943" "TYMP_000029" "g.50966144C>T" "" "" "" "TYMP(NM_001113756.2):c.519G>A (p.M173I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50527715C>T" "" "likely benign" "" "0000660312" "3" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "00006" "NCAPH2_000009" "g.50962423C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.50523994C>T" "" "pathogenic (recessive)" "" "0000681935" "0" "30" "22" "50956008" "50956008" "subst" "0.000154385" "01943" "NCAPH2_000001" "g.50956008G>A" "" "" "" "NCAPH2(NM_001185011.1):c.269G>A (p.R90Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681936" "0" "30" "22" "50956011" "50956011" "subst" "6.90596E-5" "01943" "NCAPH2_000025" "g.50956011C>T" "" "" "" "NCAPH2(NM_001185011.1):c.272C>T (p.A91V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681937" "0" "50" "22" "50962434" "50962445" "dup" "0" "01943" "NCAPH2_000026" "g.50962434_50962445dup" "" "" "" "SCO2(NM_001169109.1):c.402_413dupTGACATCTGCCC (p.I136_D139dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681938" "0" "30" "22" "50964440" "50964440" "subst" "4.0793E-5" "01943" "TYMP_000030" "g.50964440C>T" "" "" "" "TYMP(NM_001113756.2):c.1290G>A (p.R430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526011C>T" "" "likely benign" "" "0000681939" "0" "30" "22" "50967688" "50967688" "subst" "4.07325E-6" "01943" "TYMP_000031" "g.50967688C>T" "" "" "" "TYMP(NM_001113756.2):c.294G>A (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529259C>T" "" "likely benign" "" "0000693223" "0" "50" "22" "50962341" "50962341" "subst" "4.06587E-6" "02325" "NCAPH2_000029" "g.50962341A>C" "" "" "" "SCO2(NM_001169109.1):c.500T>G (p.V167G), SCO2(NM_005138.3):c.500T>G (p.V167G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728226" "0" "30" "22" "50962265" "50962265" "subst" "0.00045487" "01943" "NCAPH2_000030" "g.50962265G>A" "" "" "" "SCO2(NM_001169109.1):c.576C>T (p.T192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728227" "0" "50" "22" "50962699" "50962699" "subst" "4.27917E-6" "01943" "NCAPH2_000031" "g.50962699C>T" "" "" "" "SCO2(NM_001169109.1):c.142G>A (p.G48R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728228" "0" "30" "22" "50965624" "50965624" "subst" "0.00275506" "01943" "TYMP_000032" "g.50965624C>T" "" "" "" "TYMP(NM_001113756.2):c.735G>A (p.Q245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50527195C>T" "" "likely benign" "" "0000791709" "3" "50" "22" "50962480" "50962480" "subst" "0" "01164" "SCO2_000008" "g.50962480C>G" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000809682" "0" "50" "22" "50962341" "50962341" "subst" "4.06587E-6" "01943" "NCAPH2_000029" "g.50962341A>C" "" "" "" "SCO2(NM_001169109.1):c.500T>G (p.V167G), SCO2(NM_005138.3):c.500T>G (p.V167G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856203" "0" "30" "22" "50964236" "50964236" "subst" "0.127677" "02326" "TYMP_000057" "g.50964236G>A" "" "" "" "SCO2(NM_001169109.1):c.-14+439C>T, SCO2(NM_001169109.2):c.-14+439C>T, TYMP(NM_001953.5):c.1412C>T (p.S471L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50525807G>A" "" "likely benign" "" "0000856204" "0" "30" "22" "50966963" "50966963" "subst" "1.21886E-5" "01943" "TYMP_000037" "g.50966963T>C" "" "" "" "TYMP(NM_001113756.2):c.494A>G (p.N165S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50528534T>C" "" "likely benign" "" "0000856205" "0" "30" "22" "50968078" "50968078" "subst" "0" "01943" "TYMP_000039" "g.50968078C>G" "" "" "" "TYMP(NM_001113756.2):c.61G>C (p.E21Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529649C>G" "" "likely benign" "" "0000866905" "0" "30" "22" "50946784" "50946784" "subst" "0" "01943" "LMF2_000007" "g.50946784G>A" "" "" "" "NCAPH2(NM_001185011.1):c.18G>A (p.A6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866906" "0" "50" "22" "50962330" "50962330" "subst" "8.13206E-6" "01943" "NCAPH2_000033" "g.50962330G>A" "" "" "" "SCO2(NM_001169109.1):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866907" "0" "30" "22" "50964255" "50964255" "subst" "0.0459774" "01804" "TYMP_000058" "g.50964255C>T" "" "" "" "SCO2(NM_001169109.2):c.-14+420G>A, TYMP(NM_001113755.2):c.1393G>A (p.(Ala465Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50525826C>T" "" "likely benign" "" "0000866908" "0" "30" "22" "50964554" "50964554" "subst" "0.000216035" "01804" "TYMP_000033" "g.50964554G>A" "" "" "" "TYMP(NM_001113755.2):c.1176C>T (p.(Val392=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526125G>A" "" "likely benign" "" "0000866909" "0" "30" "22" "50965102" "50965102" "subst" "0.00801596" "01804" "TYMP_000034" "g.50965102C>T" "" "" "" "TYMP(NM_001113755.2):c.831G>A (p.(Leu277=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526673C>T" "" "likely benign" "" "0000866910" "0" "90" "22" "50966041" "50966041" "subst" "0.000333111" "01804" "TYMP_000035" "g.50966041C>T" "" "" "" "TYMP(NM_001113755.2):c.622G>A (p.(Val208Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50527612C>T" "" "pathogenic" "" "0000866911" "0" "50" "22" "50966121" "50966121" "subst" "1.21853E-5" "01804" "TYMP_000036" "g.50966121C>T" "" "" "" "TYMP(NM_001113755.2):c.542G>A (p.(Gly181Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50527692C>T" "" "VUS" "" "0000866912" "0" "50" "22" "50967908" "50967908" "subst" "0" "01804" "TYMP_000038" "g.50967908C>T" "" "" "" "TYMP(NM_001113755.2):c.214+17G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529479C>T" "" "VUS" "" "0000895817" "0" "50" "22" "50962435" "50962446" "del" "8.12757E-5" "02327" "NCAPH2_000041" "g.50962435_50962446del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895818" "0" "50" "22" "50962462" "50962462" "subst" "0" "02325" "NCAPH2_000042" "g.50962462A>G" "" "" "" "SCO2(NM_005138.3):c.379T>C (p.Y127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895819" "0" "50" "22" "50964222" "50964222" "subst" "0" "01804" "TYMP_000040" "g.50964222G>C" "" "" "" "TYMP(NM_001113755.2):c.1426C>G (p.(Leu476Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50525793G>C" "" "VUS" "" "0000895820" "0" "50" "22" "50964699" "50964701" "del" "0" "01804" "TYMP_000041" "g.50964699_50964701del" "" "" "" "TYMP(NM_001113755.2):c.1138_1140del (p.(Glu380del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526270_50526272del" "" "VUS" "" "0000915567" "0" "30" "22" "50964995" "50964995" "dup" "0" "01804" "TYMP_000042" "g.50964995dup" "" "" "" "TYMP(NM_001113755.2):c.928+10dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526566dup" "" "likely benign" "" "0000927225" "0" "50" "22" "50964675" "50964675" "subst" "0" "02325" "TYMP_000043" "g.50964675C>T" "" "" "" "TYMP(NM_001953.5):c.1159G>A (p.G387S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526246C>T" "" "VUS" "" "0000931317" "0" "30" "22" "50964859" "50964859" "subst" "0" "01804" "TYMP_000044" "g.50964859C>T" "" "" "" "TYMP(NM_001257988.1):c.975G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526430C>T" "" "likely benign" "" "0000931318" "0" "30" "22" "50965597" "50965597" "subst" "1.22171E-5" "01804" "TYMP_000045" "g.50965597C>T" "" "" "" "TYMP(NM_001113755.2):c.762G>A (p.(Thr254=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50527168C>T" "" "likely benign" "" "0000951639" "0" "50" "22" "50964725" "50964725" "subst" "0" "01804" "TYMP_000046" "g.50964725T>C" "" "" "" "TYMP(NM_001113755.2):c.1109A>G (p.(Gln370Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526296T>C" "" "VUS" "" "0000951640" "0" "30" "22" "50965683" "50965683" "subst" "0.000150457" "01804" "TYMP_000028" "g.50965683C>T" "" "" "" "TYMP(NM_001113755.2):c.676G>A (p.(Gly226Arg)), TYMP(NM_001113756.2):c.676G>A (p.G226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50527254C>T" "" "likely benign" "" "0000957764" "0" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "00006" "NCAPH2_000009" "g.50962423C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50523994C>T" "" "pathogenic" "" "0000957792" "0" "90" "22" "50962330" "50962330" "subst" "8.13206E-6" "00006" "NCAPH2_000033" "g.50962330G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50523901G>A" "" "pathogenic" "" "0000970542" "0" "30" "22" "50962514" "50962514" "subst" "0.00759008" "01804" "NCAPH2_000050" "g.50962514G>A" "" "" "" "SCO2(NM_001169109.1):c.327C>T (p.(His109=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970543" "0" "10" "22" "50967935" "50967935" "subst" "0.00409759" "01804" "TYMP_000047" "g.50967935G>A" "" "" "" "TYMP(NM_001113755.2):c.204C>T (p.(Gly68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529506G>A" "" "benign" "" "0000970544" "0" "30" "22" "50968184" "50968184" "subst" "0.000291976" "01804" "TYMP_000048" "g.50968184C>A" "" "" "" "TYMP(NM_001113755.2):c.-22-24G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529755C>A" "" "likely benign" "" "0000984315" "0" "50" "22" "50962117" "50962117" "subst" "2.84292E-5" "01804" "NCAPH2_000053" "g.50962117C>T" "" "" "" "SCO2(NM_005138.3):c.724G>A (p.(Gly242Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984316" "0" "70" "22" "50962330" "50962330" "subst" "8.13206E-6" "02327" "NCAPH2_000033" "g.50962330G>A" "" "" "" "SCO2(NM_001169109.1):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984317" "0" "30" "22" "50966962" "50966962" "subst" "9.34503E-5" "01804" "TYMP_000049" "g.50966962A>G" "" "" "" "TYMP(NM_001953.5):c.495T>C (p.(Asn165=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50528533A>G" "" "likely benign" "" "0001006251" "0" "30" "22" "50956007" "50956007" "subst" "3.25042E-5" "01804" "NCAPH2_000055" "g.50956007C>T" "" "" "" "NCAPH2(NM_152299.3):c.268C>T (p.(Arg90Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006252" "0" "30" "22" "50960191" "50960191" "subst" "0.000414324" "01804" "NCAPH2_000056" "g.50960191C>G" "" "" "" "NCAPH2(NM_152299.3):c.1022C>G (p.(Pro341Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006253" "0" "10" "22" "50962065" "50962065" "subst" "0.00229975" "01804" "NCAPH2_000057" "g.50962065G>A" "" "" "" "SCO2(NM_005138.2):c.776C>T (p.(Ala259Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006254" "0" "50" "22" "50962155" "50962155" "subst" "0" "01804" "NCAPH2_000058" "g.50962155T>C" "" "" "" "SCO2(NM_005138.2):c.686A>G (p.(Tyr229Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006255" "0" "90" "22" "50962264" "50962264" "subst" "3.24905E-5" "02327" "NCAPH2_000008" "g.50962264C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001006256" "0" "50" "22" "50962331" "50962331" "subst" "0" "02327" "NCAPH2_000022" "g.50962331C>G" "" "" "" "SCO2(NM_001169109.1):c.510G>C (p.E170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006257" "0" "50" "22" "50962854" "50962854" "subst" "0" "01804" "NCAPH2_000059" "g.50962854C>T" "" "" "" "SCO2(NM_005138.2):c.-13-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006258" "0" "50" "22" "50965623" "50965623" "subst" "2.0348E-5" "01804" "TYMP_000050" "g.50965623C>T" "" "" "" "TYMP(NM_001113755.2):c.736G>A (p.(Glu246Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50527194C>T" "" "VUS" "" "0001006259" "0" "30" "22" "50966925" "50966925" "subst" "0" "01804" "TYMP_000051" "g.50966925C>T" "" "" "" "TYMP(NM_001113755.2):c.516+16G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50528496C>T" "" "likely benign" "" "0001015959" "0" "50" "22" "50962077" "50962077" "subst" "3.25002E-5" "01804" "NCAPH2_000062" "g.50962077C>T" "" "" "" "SCO2(NM_001169109.1):c.764G>A (p.(Arg255Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015960" "0" "50" "22" "50962329" "50962329" "subst" "2.03303E-5" "01804" "NCAPH2_000063" "g.50962329C>T" "" "" "" "SCO2(NM_001169109.1):c.512G>A (p.(Arg171Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015961" "0" "30" "22" "50964760" "50964760" "subst" "0.000176541" "01804" "TYMP_000052" "g.50964760T>C" "" "" "" "TYMP(NM_001113755.2):c.1074A>G (p.(Arg358=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526331T>C" "" "likely benign" "" "0001027415" "0" "30" "22" "50962640" "50962640" "subst" "0.00232032" "01804" "NCAPH2_000010" "g.50962640G>A" "" "" "" "SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027416" "0" "30" "22" "50964596" "50964596" "subst" "0" "01804" "TYMP_000053" "g.50964596C>T" "" "" "" "TYMP(NM_001257988.1):c.1160-26G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526167C>T" "" "likely benign" "" "0001043962" "0" "30" "22" "50962301" "50962301" "subst" "7.3144E-5" "01804" "NCAPH2_000066" "g.50962301G>A" "" "" "" "SCO2(NM_001169109.1):c.540C>T (p.(Tyr180=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043963" "0" "50" "22" "50962341" "50962341" "subst" "4.06587E-6" "02327" "NCAPH2_000029" "g.50962341A>C" "" "" "" "SCO2(NM_001169109.1):c.500T>G (p.V167G), SCO2(NM_005138.3):c.500T>G (p.V167G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043964" "0" "50" "22" "50962608" "50962627" "dup" "0" "01804" "NCAPH2_000067" "g.50962608_50962627dup" "" "" "" "SCO2(NM_005138.3):c.215_234dup (p.(Arg79Valfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043965" "0" "50" "22" "50962662" "50962662" "subst" "1.6894E-5" "01804" "NCAPH2_000068" "g.50962662C>T" "" "" "" "SCO2(NM_005138.3):c.179G>A (p.(Arg60Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046829" "0" "50" "22" "50962597" "50962597" "subst" "0.000141515" "01804" "NCAPH2_000069" "g.50962597T>C" "" "" "" "SCO2(NM_001169109.1):c.244A>G (p.(Lys82Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046830" "0" "90" "22" "50965067" "50965067" "subst" "4.87632E-5" "01804" "TYMP_000014" "g.50965067T>G" "" "" "" "TYMP(NM_001113755.2):c.866A>C (p.(Glu289Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526638T>G" "" "pathogenic" "" "0001057238" "0" "50" "22" "50962381" "50962381" "subst" "6.50883E-5" "01804" "NCAPH2_000070" "g.50962381C>T" "" "" "" "SCO2(NM_005138.3):c.460G>A (p.(Glu154Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057239" "0" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "01804" "NCAPH2_000009" "g.50962423C>T" "" "" "" "SCO2(NM_001169109.1):c.418G>A (p.E140K), SCO2(NM_001169109.2):c.418G>A (p.E140K), SCO2(NM_005138.3):c.418G>A (p.(Glu140Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001059132" "0" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "00006" "NCAPH2_000009" "g.50962423C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.50523994C>T" "" "pathogenic" "" "0001059133" "0" "70" "22" "50962134" "50962134" "subst" "4.06114E-6" "00006" "SCO2_000009" "g.50962134A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.50523705A>G" "" "likely pathogenic" "" "0001061716" "3" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "00006" "NCAPH2_000009" "g.50962423C>T" "" "{PMID:Zech 2020:33098801}" "" "" "" "Germline" "" "" "0" "" "" "g.50523994C>T" "" "pathogenic (recessive)" "" "0001067560" "0" "50" "22" "50962086" "50962089" "del" "0" "02325" "NCAPH2_000071" "g.50962086_50962089del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067561" "0" "50" "22" "50962095" "50962095" "subst" "0" "01804" "NCAPH2_000072" "g.50962095T>C" "" "" "" "TYMP(NM_001257988.1):c.*2104A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067562" "0" "30" "22" "50964657" "50964657" "subst" "0.0001874" "01804" "TYMP_000054" "g.50964657G>T" "" "" "" "TYMP(NM_001113755.2):c.1159+18C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526228G>T" "" "likely benign" "" "0001067563" "0" "50" "22" "50964731" "50964731" "subst" "0" "01804" "TYMP_000055" "g.50964731C>T" "" "" "" "TYMP(NM_001953.5):c.1103G>A (p.(Arg368His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526302C>T" "" "VUS" "" "0001067564" "0" "50" "22" "50968092" "50968092" "subst" "8.29958E-6" "01804" "TYMP_000056" "g.50968092C>G" "" "" "" "TYMP(NM_001113755.2):c.47G>C (p.(Gly16Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529663C>G" "" "VUS" "" "0001069091" "3" "50" "22" "50962480" "50962480" "subst" "0" "00006" "SCO2_000008" "g.50962480C>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PP3" "Germline" "" "" "0" "" "" "g.50524051C>G" "SCV006075223" "VUS" "ACMG" "0001082647" "1" "70" "22" "50962669" "50962669" "subst" "0" "00006" "chr22_003297" "g.50962669G>A" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.50524240G>A" "" "likely pathogenic" "" "0001082648" "1" "70" "22" "50962616" "50962616" "subst" "8.38448E-6" "00006" "chr22_003298" "g.50962616C>T" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.50524187C>T" "" "likely pathogenic" "" "0001082649" "1" "70" "22" "50962803" "50962803" "del" "0" "00006" "chr22_003299" "g.50962803del" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "39delG" "" "Germline" "" "" "0" "" "" "g.50524374del" "" "likely pathogenic" "" "0001082650" "1" "70" "22" "50962264" "50962264" "subst" "3.24905E-5" "00006" "NCAPH2_000008" "g.50962264C>T" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.50523835C>T" "" "likely pathogenic" "" "0001089463" "0" "70" "22" "50962174" "50962174" "subst" "0" "00006" "SCO2_000010" "g.50962174C>T" "" "{PMID:Vondrackova 2014:23838601}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50523745C>T" "" "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 SCO2 ## Count = 123 "{{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}}" "0000064192" "00018534" "90" "364" "0" "364" "0" "c.364dup" "r.(?)" "p.(Gln122Profs*14)" "" "0000079353" "00018534" "90" "-702899" "0" "3779897" "0" "c.-702899_*3779096del" "r.0?" "p.0?" "" "0000291005" "00018534" "30" "17440" "0" "17440" "0" "c.*16639G>T" "r.(=)" "p.(=)" "" "0000292997" "00018534" "10" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Ser194=)" "" "0000295696" "00018534" "30" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(Phe67=)" "" "0000295697" "00018534" "10" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Arg20Pro)" "" "0000295698" "00018534" "10" "633" "0" "633" "0" "c.633A>C" "r.(?)" "p.(Ala211=)" "" "0000295699" "00018534" "30" "763" "0" "763" "0" "c.763C>A" "r.(?)" "p.(Arg255=)" "" "0000298038" "00018534" "10" "-368" "0" "-368" "0" "c.-368G>A" "r.(?)" "p.(=)" "" "0000298039" "00018534" "10" "-349" "0" "-349" "0" "c.-349C>T" "r.(?)" "p.(=)" "" "0000298040" "00018534" "10" "-975" "0" "-975" "0" "c.-975C>T" "r.(?)" "p.(=)" "" "0000298041" "00018534" "30" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(Phe67=)" "" "0000298042" "00018534" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0000298043" "00018534" "10" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Arg20Pro)" "" "0000298044" "00018534" "10" "633" "0" "633" "0" "c.633A>C" "r.(?)" "p.(Ala211=)" "" "0000298045" "00018534" "30" "738" "0" "738" "0" "c.738G>C" "r.(?)" "p.(Ser246=)" "" "0000298046" "00018534" "30" "763" "0" "763" "0" "c.763C>A" "r.(?)" "p.(Arg255=)" "" "0000301994" "00018534" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0000307837" "00018534" "30" "195" "0" "195" "0" "c.195C>G" "r.(?)" "p.(Gly65=)" "" "0000307838" "00018534" "50" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Trp)" "" "0000329121" "00018534" "50" "19740" "0" "19740" "0" "c.*18939T>C" "r.(=)" "p.(=)" "" "0000329127" "00018534" "50" "4" "0" "4" "0" "c.4C>G" "r.(?)" "p.(Leu2Val)" "" "0000329128" "00018534" "50" "-548" "0" "-548" "0" "c.-548G>A" "r.(?)" "p.(=)" "" "0000329130" "00018534" "30" "-712" "0" "-712" "0" "c.-712C>G" "r.(?)" "p.(=)" "" "0000329131" "00018534" "30" "-1024" "0" "-1021" "0" "c.-1024_-1021del" "r.(?)" "p.(=)" "" "0000329135" "00018534" "30" "-4025" "0" "-4025" "0" "c.-4025G>A" "r.(?)" "p.(=)" "" "0000329136" "00018534" "50" "-5333" "0" "-5333" "0" "c.-5333A>G" "r.(?)" "p.(=)" "" "0000572393" "00018534" "30" "763" "0" "763" "0" "c.763C>A" "r.(?)" "p.(Arg255=)" "" "0000572394" "00018534" "50" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179His)" "" "0000572395" "00018534" "30" "236" "0" "236" "0" "c.236G>C" "r.(?)" "p.(Arg79Thr)" "" "0000572396" "00018534" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60Trp)" "" "0000572397" "00018534" "10" "-559" "0" "-559" "0" "c.-559T>A" "r.(?)" "p.(=)" "" "0000572398" "00018534" "10" "-975" "0" "-975" "0" "c.-975C>T" "r.(?)" "p.(=)" "" "0000572399" "00018534" "30" "-3853" "0" "-3853" "0" "c.-3853G>A" "r.(?)" "p.(=)" "" "0000572400" "00018534" "30" "-3853" "0" "-3853" "0" "c.-3853G>A" "r.(?)" "p.(=)" "" "0000572401" "00018534" "30" "-4058" "0" "-4058" "0" "c.-4058G>A" "r.(?)" "p.(=)" "" "0000572402" "00018534" "30" "-4222" "0" "-4222" "0" "c.-4222G>A" "r.(?)" "p.(=)" "" "0000572404" "00018534" "50" "-5355" "0" "-5355" "0" "c.-5355del" "r.(?)" "p.(=)" "" "0000618645" "00018534" "30" "510" "0" "510" "0" "c.510G>C" "r.(?)" "p.(Glu170Asp)" "" "0000618646" "00018534" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0000618647" "00018534" "10" "-368" "0" "-368" "0" "c.-368G>A" "r.(?)" "p.(=)" "" "0000624333" "00018534" "30" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(Phe67=)" "" "0000624334" "00018534" "30" "-1796" "0" "-1796" "0" "c.-1796G>A" "r.(?)" "p.(=)" "" "0000629301" "00018534" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0000651014" "00018534" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0000658983" "00018534" "30" "-2257" "0" "-2257" "0" "c.-2257G>A" "r.(?)" "p.(=)" "" "0000660312" "00018534" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0000681935" "00018534" "30" "6833" "0" "6833" "0" "c.*6032C>T" "r.(=)" "p.(=)" "" "0000681936" "00018534" "30" "6830" "0" "6830" "0" "c.*6029G>A" "r.(=)" "p.(=)" "" "0000681937" "00018534" "50" "402" "0" "413" "0" "c.402_413dup" "r.(?)" "p.(Ile136_Asp139dup)" "" "0000681938" "00018534" "30" "-553" "0" "-553" "0" "c.-553G>A" "r.(?)" "p.(=)" "" "0000681939" "00018534" "30" "-3801" "0" "-3801" "0" "c.-3801G>A" "r.(?)" "p.(=)" "" "0000693223" "00018534" "50" "500" "0" "500" "0" "c.500T>G" "r.(?)" "p.(Val167Gly)" "" "0000728226" "00018534" "30" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Thr192=)" "" "0000728227" "00018534" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Gly48Arg)" "" "0000728228" "00018534" "30" "-1737" "0" "-1737" "0" "c.-1737G>A" "r.(?)" "p.(=)" "" "0000791709" "00018534" "50" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Gly121Arg)" "" "0000809682" "00018534" "50" "500" "0" "500" "0" "c.500T>G" "r.(?)" "p.(Val167Gly)" "" "0000856203" "00018534" "30" "-349" "0" "-349" "0" "c.-349C>T" "r.(?)" "p.(=)" "" "0000856204" "00018534" "30" "-3076" "0" "-3076" "0" "c.-3076A>G" "r.(?)" "p.(=)" "" "0000856205" "00018534" "30" "-4191" "0" "-4191" "0" "c.-4191G>C" "r.(?)" "p.(=)" "" "0000866905" "00018534" "30" "16057" "0" "16057" "0" "c.*15256C>T" "r.(=)" "p.(=)" "" "0000866906" "00018534" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" "" "0000866907" "00018534" "30" "-368" "0" "-368" "0" "c.-368G>A" "r.(?)" "p.(=)" "" "0000866908" "00018534" "30" "-667" "0" "-667" "0" "c.-667C>T" "r.(?)" "p.(=)" "" "0000866909" "00018534" "30" "-1215" "0" "-1215" "0" "c.-1215G>A" "r.(?)" "p.(=)" "" "0000866910" "00018534" "90" "-2154" "0" "-2154" "0" "c.-2154G>A" "r.(?)" "p.(=)" "" "0000866911" "00018534" "50" "-2234" "0" "-2234" "0" "c.-2234G>A" "r.(?)" "p.(=)" "" "0000866912" "00018534" "50" "-4021" "0" "-4021" "0" "c.-4021G>A" "r.(?)" "p.(=)" "" "0000895817" "00018534" "50" "395" "0" "406" "0" "c.395_406del" "r.(?)" "p.(His132_Ile136delinsLeu)" "" "0000895818" "00018534" "50" "379" "0" "379" "0" "c.379T>C" "r.(?)" "p.(Tyr127His)" "" "0000895819" "00018534" "50" "-335" "0" "-335" "0" "c.-335C>G" "r.(?)" "p.(=)" "" "0000895820" "00018534" "50" "-809" "0" "-807" "0" "c.-809_-807del" "r.(?)" "p.(=)" "" "0000915567" "00018534" "30" "-1108" "0" "-1108" "0" "c.-1108dup" "r.(?)" "p.(=)" "" "0000927225" "00018534" "50" "-788" "0" "-788" "0" "c.-788G>A" "r.(?)" "p.(=)" "" "0000931317" "00018534" "30" "-972" "0" "-972" "0" "c.-972G>A" "r.(?)" "p.(=)" "" "0000931318" "00018534" "30" "-1710" "0" "-1710" "0" "c.-1710G>A" "r.(?)" "p.(=)" "" "0000951639" "00018534" "50" "-838" "0" "-838" "0" "c.-838A>G" "r.(?)" "p.(=)" "" "0000951640" "00018534" "30" "-1796" "0" "-1796" "0" "c.-1796G>A" "r.(?)" "p.(=)" "" "0000957764" "00018534" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0000957792" "00018534" "90" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" "" "0000970542" "00018534" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(=)" "" "0000970543" "00018534" "10" "-4048" "0" "-4048" "0" "c.-4048C>T" "r.(?)" "p.(=)" "" "0000970544" "00018534" "30" "-4297" "0" "-4297" "0" "c.-4297G>T" "r.(?)" "p.(=)" "" "0000984315" "00018534" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Gly242Ser)" "" "0000984316" "00018534" "70" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" "" "0000984317" "00018534" "30" "-3075" "0" "-3075" "0" "c.-3075T>C" "r.(?)" "p.(=)" "" "0001006251" "00018534" "30" "6834" "0" "6834" "0" "c.*6033G>A" "r.(=)" "p.(=)" "" "0001006252" "00018534" "30" "2650" "0" "2650" "0" "c.*1849G>C" "r.(=)" "p.(=)" "" "0001006253" "00018534" "10" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0001006254" "00018534" "50" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(Tyr229Cys)" "" "0001006255" "00018534" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "" "0001006256" "00018534" "50" "510" "0" "510" "0" "c.510G>C" "r.(?)" "p.(Glu170Asp)" "" "0001006257" "00018534" "50" "-13" "-1" "-13" "-1" "c.-13-1G>A" "r.spl?" "p.?" "" "0001006258" "00018534" "50" "-1736" "0" "-1736" "0" "c.-1736G>A" "r.(?)" "p.(=)" "" "0001006259" "00018534" "30" "-3038" "0" "-3038" "0" "c.-3038G>A" "r.(?)" "p.(=)" "" "0001015959" "00018534" "50" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Gln)" "" "0001015960" "00018534" "50" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Arg171Gln)" "" "0001015961" "00018534" "30" "-873" "0" "-873" "0" "c.-873A>G" "r.(?)" "p.(=)" "" "0001027415" "00018534" "30" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(Phe67=)" "" "0001027416" "00018534" "30" "-709" "0" "-709" "0" "c.-709G>A" "r.(?)" "p.(=)" "" "0001043962" "00018534" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(=)" "" "0001043963" "00018534" "50" "500" "0" "500" "0" "c.500T>G" "r.(?)" "p.(Val167Gly)" "" "0001043964" "00018534" "50" "215" "0" "234" "0" "c.215_234dup" "r.(?)" "p.(Arg79Valfs*7)" "" "0001043965" "00018534" "50" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60Gln)" "" "0001046829" "00018534" "50" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Lys82Glu)" "" "0001046830" "00018534" "90" "-1180" "0" "-1180" "0" "c.-1180A>C" "r.(?)" "p.(=)" "" "0001057238" "00018534" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Glu154Lys)" "" "0001057239" "00018534" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0001059132" "00018534" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0001059133" "00018534" "70" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Leu236Pro)" "" "0001061716" "00018534" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0001067560" "00018534" "50" "755" "0" "758" "0" "c.755_758del" "r.(?)" "p.(Asp252Valfs*24)" "" "0001067561" "00018534" "50" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Gln249Arg)" "" "0001067562" "00018534" "30" "-770" "0" "-770" "0" "c.-770C>A" "r.(?)" "p.(=)" "" "0001067563" "00018534" "50" "-844" "0" "-844" "0" "c.-844G>A" "r.(?)" "p.(=)" "" "0001067564" "00018534" "50" "-4205" "0" "-4205" "0" "c.-4205G>C" "r.(?)" "p.(=)" "" "0001069091" "00018534" "50" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Gly121Arg)" "" "0001082647" "00018534" "70" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Ter)" "2" "0001082648" "00018534" "70" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Trp75Ter)" "2" "0001082649" "00018534" "70" "39" "0" "39" "0" "c.39del" "r.(?)" "p.(Arg13SerfsTer21)" "2" "0001082650" "00018534" "70" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "2" "0001089463" "00018534" "70" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Asp223Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000037067" "0000064192" "0000050373" "0000079353" "0000275337" "0000629301" "0000294325" "0000651014" "0000297703" "0000660312" "0000378803" "0000791709" "0000448357" "0000957764" "0000448385" "0000957792" "0000471010" "0001059132" "0000471011" "0001059133" "0000472972" "0001061716" "0000474693" "0001069091" "0000484928" "0001082647" "0000484929" "0001082648" "0000484930" "0001082649" "0000484931" "0001082650" "0000486469" "0001089463"