### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OGDHL) # 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}}" "OGDHL" "oxoglutarate dehydrogenase-like" "10" "q11.23" "unknown" "NG_052636.1" "UD_132464516320" "" "https://www.LOVD.nl/OGDHL" "" "1" "25590" "55753" "0" "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/OGDHL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-12 19:00:29" "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}}" "00015015" "OGDHL" "transcript variant 1" "003" "NM_018245.2" "" "NP_060715.2" "" "" "" "-142" "3620" "3033" "50970425" "50942687" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "04225" "-" "neurodegeneration" "" "" "" "" "" "00006" "2015-03-13 20:14:29" "" "" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05399" "DFNB32" "deafness, autosomal recessive, type 32 (DFNB-32)" "AR" "608653" "" "autosomal recessive, deafness (female/male), male infertility" "" "00006" "2018-02-24 17:17:28" "00006" "2021-12-10 21:51:32" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05555" "NEDIDHA" "neurodevelopmental disorder, impaired intellectual development, hypotonia, and ataxia (NEDIDHA)" "AR" "618292" "" "autosomal recessive" "" "00006" "2019-02-01 10:05:41" "00006" "2021-12-10 21:51:32" "05580" "MPS" "mucopolysaccharidosis (MPS)" "" "" "" "" "" "00006" "2019-03-01 09:43:46" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00150210" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB4852" "00269609" "" "" "00402896" "1" "" "02404" "{PMID:Doll 2020:31906439}, {PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "sister" "F" "yes" "Iran" "" "0" "" "" "" "?;Fam9PatIV8" "00290054" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296261" "" "" "" "1" "" "02404" "{PMID:Tan 2020:32220291}, {DOI:Tan 2020:10.1016/j.ajhg.2020.02.015}, {PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Iran" "" "0" "" "" "Azari" "Pat4;Fam10Pat12" "00385786" "" "" "" "2" "" "04184" "{PMID:Yap 2021:34800363}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam1Pat1" "00385787" "" "" "00385786" "1" "" "04184" "{PMID:Yap 2021:34800363}" "sister" "F" "yes" "Iran" "" "0" "" "" "" "Fam1Pat2" "00385788" "" "" "" "1" "" "04184" "{PMID:Yap 2021:34800363}" "" "M" "no" "Italy" "" "0" "" "" "" "Fam2Pat3" "00385790" "" "" "" "1" "" "04184" "{PMID:Yap 2021:34800363}" "" "M" "no" "Germany" "" "" "" "" "" "Fam3Pat4" "00385821" "" "" "" "1" "" "04184" "{PMID:Yap 2021:34800363}" "" "F" "no" "Ukraine" "" "" "" "" "" "Fam4Pat5" "00385822" "" "" "" "1" "" "04184" "{PMID:Yap 2021:34800363}" "" "M" "yes" "Pakistan" "" "" "" "" "" "Fam5Pat6" "00385823" "" "" "" "1" "" "04184" "{PMID:Yap 2021:34800363}" "" "M" "yes" "Syria" "" "" "" "" "" "Fam6Pat7" "00385824" "" "" "" "1" "" "04184" "{PMID:Yap 2021:34800363}" "" "M" "yes" "Iran" "" "" "" "" "" "Fam7Pat8" "00385825" "" "" "" "1" "" "04184" "{PMID:Yap 2021:34800363}" "" "F" "yes" "Iraq" "" "" "" "" "" "Fam8Pat9" "00402879" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "4-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam1PatIV4" "00402889" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Egypt" "" "0" "" "" "" "Fam2PatIV3" "00402890" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "Sudan" "" "0" "" "" "" "Fam3PatII1" "00402891" "" "" "" "2" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "4-generation family, affected sister/brother, unaffected heterozygous parents/relatives" "F" "yes" "Syria" "" "0" "" "" "" "Fam4PatIV2/7" "00402892" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "4-generation family, 1 affected, unaffected parents" "M" "yes" "United States" "" "0" "" "" "African-American" "Fam5PatIV1" "00402893" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "3-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam6PatIV1" "00402894" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}Lin et al. in preparation" "3-generation family, 1 affected, unaffected parents" "F" "yes" "United States" "" "0" "" "" "Europe" "Fam7PatIII1" "00402895" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Germany" "" "0" "" "" "" "Fam8PatIII1" "00402896" "" "" "" "2" "" "02404" "{PMID:Doll 2020:31906439}, , {PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "4-generation family, 2 affected sisters, unaffected parents" "F" "yes" "Iran" "" "0" "" "" "" "?;Fam9PatIV2" "00438775" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "2-generation family, affected twin pair F, M), unaffected parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam11PatII4" "00438776" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam12PatII2" "00444079" "" "" "" "1" "" "00006" "{PMID:Yoon 2017:28017472}" "2-generation family, 1 affected (deceased affected older brother), unaffected heterozygous parents/relatives" "F" "" "United States" "" "0" "" "" "Turkey" "BAB4852" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00150210" "00198" "00269609" "05399" "00290054" "00198" "00296261" "00198" "00385786" "05555" "00385787" "05555" "00385788" "05555" "00385790" "05555" "00385821" "05555" "00385822" "05555" "00385823" "05555" "00385824" "05555" "00385825" "05555" "00402879" "05611" "00402889" "05611" "00402890" "04225" "00402890" "05580" "00402891" "05611" "00402892" "05611" "00402893" "04225" "00402894" "00198" "00402895" "04270" "00402896" "05400" "00438775" "00244" "00438776" "00351" "00444079" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00351, 04225, 04270, 05399, 05400, 05555, 05580, 05611 ## Count = 22 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000122612" "00198" "00150210" "00006" "Unknown" "" "intellectual diability, CCA, microcephaly, cerebral palsy, puberty precocious, zygo-clinodactyly" "" "" "" "" "" "" "" "" "" "" "" "0000207413" "05399" "00269609" "02404" "Familial, autosomal recessive" "43y" "Congenital onset, severe-to-profound hearing loss" "" "" "" "" "" "" "" "" "Non-syndromic hearing loss" "Non-syndromic hearing loss" "" "0000223728" "00198" "00296261" "00006" "Familial, autosomal recessive" "11y" "no prenatal structural anomalies; no complications during pregnancy or delivery; birth 38w gestation, length 50 cm (−4.3 SD), weight 3600 g (+0.51 SD), head circumference in normal range; length 114 cm (−4.3 SD), weight 20 kg (−4.1 SD), head circumference 49 cm (−3.3 SD); motor delay; nonverbal; profound intellectual disability; epilepsy, global developmental delay, axial hypotonia with appendicular hypertonia and distal contractures, muscle atrophy, repetitive movements of right hand and neck; MRI 3y-brain atrophy in temporal lobes; EEG focal and generalized epileptiform discharges; 7y-intractable generalized seizures with increased frequency from once a month to once every 15d; no behavioral problems; no sleep disturbance; non-dysmorphic face; normal hearing; cortical blindness; no abnormality heart; no abnormality respiratory system; feeding difficulties; no abnormality urogenital system; no abnormality skin/hair/nails; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability, epilepsy" "" "0000280170" "05555" "00385786" "04184" "Familial, autosomal recessive" "" "HP:0011342; HP:0002069; HP:0002066; HP:0008619; HP:0000505" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000280171" "05555" "00385787" "04184" "Familial, autosomal recessive" "" "HP:0011342; HP:0002066; HP:0008619" "01y" "" "" "" "" "" "" "" "" "" "" "0000280172" "05555" "00385788" "04184" "Familial, autosomal recessive" "" "HP:0011342; HP:0010535; HP:0000338; HP:0000488; HP:0011476; HP:0002066; HP:0002650; HP:0001761" "08y" "" "" "" "" "" "" "" "" "" "" "0000280173" "05555" "00385790" "04184" "Familial, autosomal recessive" "" "HP:0011170; HP:0002069; HP:0002133; HP:0011147" "06y" "" "" "" "" "" "" "" "" "" "" "0000280174" "05555" "00385821" "04184" "Familial, autosomal recessive" "" "HP:0001263; HP:0002069; HP:0012469; HP:0001252; HP:0002521; HP:0000639;HP:0000505; HP:0001385" "00y06m" "" "" "" "" "" "" "" "" "" "" "0000280175" "05555" "00385822" "04184" "Familial, autosomal recessive" "" "HP:0001263; HP:0001249; HP:0011153; HP:0002069; HP:0002510; HP:0000648; HP:0000218; HP:0002650; HP:0000252; HP:0006970; HP:0002079" "00y05m" "" "" "" "" "" "" "" "" "" "" "0000280176" "05555" "00385823" "04184" "Familial, autosomal recessive" "" "HP:0001256; HP:0030799; HP:0009733" "" "" "3m" "" "" "" "" "" "" "" "" "0000280177" "05555" "00385824" "04184" "Familial, autosomal recessive" "" "HP:0002342; HP:0001252; HP:0000639" "" "" "3m-4m" "" "" "" "" "" "" "" "" "0000280178" "05555" "00385825" "04184" "Familial, autosomal recessive" "" "HP:0001263; HP:0001249; HP:0001250; HP:0001252; HP:0002066; HP:0000365; HP:0000505; HP:0001488; HP:0000218" "" "" "2m" "" "" "" "" "" "" "" "" "0000295640" "05611" "00402879" "02404" "Complex" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295642" "05611" "00402889" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295643" "05611" "00402891" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295644" "04225" "00402893" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295645" "00198" "00402894" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295646" "04270" "00402895" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295647" "05400" "00402896" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000328673" "00244" "00438775" "02404" "Familial, autosomal recessive" "11y" "Myopathy" "" "" "" "" "" "" "" "" "" "" "" "0000328674" "00351" "00438776" "02404" "Familial, autosomal recessive" "00y04m" "Hypertrophic cardiomyopathy (HCM) + Patent ductus arteriosus (PDA)" "" "" "" "" "" "" "" "" "" "" "" "0000333337" "05611" "00444079" "00006" "Unknown" "" "see paper; ..., severe developmental delay, cerebral and cerebellar atrophy, corpus callosum abnormality" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000151065" "00150210" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000270765" "00269609" "1" "02404" "02404" "2019-12-03 11:21:50" "" "" "RT-PCR;SEQ-NG-I" "DNA;RNA" "" "Minigene analysis" "0000291222" "00290054" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297432" "00296261" "1" "00006" "00006" "2020-04-04 10:15:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000387014" "00385786" "1" "04184" "04184" "2021-10-15 13:03:08" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000387015" "00385787" "1" "04184" "04184" "2021-10-15 13:16:00" "" "" "SEQ-NG" "DNA" "" "" "0000387016" "00385788" "1" "04184" "04184" "2021-10-15 13:25:59" "" "" "SEQ-NG" "DNA" "" "" "0000387017" "00385790" "1" "04184" "04184" "2021-10-15 13:32:13" "" "" "SEQ-NG" "DNA" "" "" "0000387049" "00385821" "1" "04184" "04184" "2021-10-15 13:44:15" "" "" "SEQ-NG" "DNA" "" "" "0000387050" "00385822" "1" "04184" "04184" "2021-10-15 13:47:25" "" "" "SEQ-NG" "DNA" "" "" "0000387051" "00385823" "1" "04184" "04184" "2021-10-15 13:50:04" "" "" "SEQ-NG" "DNA" "" "" "0000387052" "00385824" "1" "04184" "04184" "2021-10-15 13:53:06" "" "" "SEQ-NG" "DNA" "" "" "0000387053" "00385825" "1" "04184" "04184" "2021-10-15 13:55:14" "" "" "SEQ-NG" "DNA" "" "" "0000404121" "00402879" "1" "02404" "02404" "2022-02-13 16:52:37" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000404130" "00402889" "1" "02404" "02404" "2022-02-13 17:11:27" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000404131" "00402890" "1" "02404" "02404" "2022-02-13 17:19:24" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000404132" "00402891" "1" "02404" "02404" "2022-02-13 17:26:18" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000404133" "00402892" "1" "02404" "02404" "2022-02-13 17:33:16" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000404134" "00402893" "1" "02404" "02404" "2022-02-13 17:40:19" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000404135" "00402894" "1" "02404" "02404" "2022-02-13 17:48:44" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000404136" "00402895" "1" "02404" "02404" "2022-02-13 17:52:54" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000404137" "00402896" "1" "02404" "02404" "2022-02-13 17:56:19" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000440257" "00438775" "1" "02404" "02404" "2023-10-24 13:16:09" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000440258" "00438776" "1" "02404" "02404" "2023-10-24 13:26:01" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000445576" "00444079" "1" "00006" "00006" "2023-12-15 17:19:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000151065" "OGDHL" "0000270765" "CDC14A" "0000297432" "ADARB1" "0000387014" "OGDHL" "0000387015" "OGDHL" "0000387016" "OGDHL" "0000387017" "OGDHL" "0000387049" "OGDHL" "0000387050" "OGDHL" "0000387051" "OGDHL" "0000387052" "OGDHL" "0000387053" "OGDHL" ## 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 = 63 "{{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}}" "0000244231" "3" "90" "10" "50946295" "50946295" "subst" "8.1242E-6" "00006" "OGDHL_000001" "g.50946295G>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_001143996: c.C2162T; p.S721L" "" "Germline" "" "" "0" "" "" "g.49738249G>A" "" "pathogenic" "" "0000539989" "0" "50" "10" "50952770" "50952770" "del" "0" "01943" "OGDHL_000003" "g.50952770del" "" "" "" "OGDHL(NM_018245.2):c.1658delG (p.C553Lfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49744724del" "" "VUS" "" "0000647911" "1" "30" "10" "50947825" "50947825" "subst" "0.0072651" "03575" "OGDHL_000004" "g.50947825A>G" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs143105288}" "Germline" "" "rs143105288" "0" "" "" "g.49739779A>G" "" "likely benign" "" "0000678845" "0" "50" "10" "50957863" "50957863" "subst" "0" "01943" "OGDHL_000005" "g.50957863C>T" "" "" "" "OGDHL(NM_001347821.1):c.270-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814865" "3" "90" "10" "50945868" "50945868" "subst" "0" "04184" "OGDHL_000006" "g.50945868G>C" "" "{PMID:Yap 2021:34800363}, {PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PP1, PM2, PP3, PS3" "Germline" "" "" "0" "" "" "g.49737822G>C" "" "likely pathogenic (recessive)" "ACMG" "0000814866" "3" "90" "10" "50945868" "50945868" "subst" "0" "04184" "OGDHL_000006" "g.50945868G>C" "" "{PMID:Yap 2021:34800363}" "" "" "" "Germline" "" "" "0" "" "" "g.49737822G>C" "" "pathogenic (recessive)" "" "0000814867" "1" "90" "10" "50948878" "50948878" "subst" "0" "04184" "OGDHL_000007" "g.50948878C>T" "" "{PMID:Yap 2021:34800363}" "" "" "" "Germline" "" "" "0" "" "" "g.49740832C>T" "" "pathogenic (recessive)" "" "0000814868" "2" "70" "10" "50953856" "50953856" "subst" "0" "04184" "OGDHL_000010" "g.50953856A>G" "" "{PMID:Yap 2021:34800363}" "" "" "Variant lead to a higher proportion of a transcript where Exon 11 is skipped. In controls this transcript is available at a proportion of about 15 % while in the patient it is at about 50%. This suggests, that this overrepresentation of the delta exon 11 transcript is favoured by the presence of the synonymous variant." "Germline" "" "" "0" "" "" "g.49745810A>G" "" "pathogenic (recessive)" "" "0000814869" "1" "90" "10" "50947825" "50947825" "subst" "0.0072651" "04184" "OGDHL_000004" "g.50947825A>G" "" "{PMID:Yap 2021:34800363}" "" "" "" "Germline" "" "" "0" "" "" "g.49739779A>G" "" "pathogenic (recessive)" "" "0000814870" "2" "90" "10" "50957779" "50957779" "subst" "0" "04184" "OGDHL_000012" "g.50957779G>A" "" "{PMID:Yap 2021:34800363}" "" "" "" "Germline" "" "" "0" "" "" "g.49749733G>A" "" "pathogenic (recessive)" "" "0000814902" "1" "90" "10" "50959962" "50959962" "subst" "0.000771517" "04184" "OGDHL_000015" "g.50959962C>G" "" "{PMID:Yap 2021:34800363}" "" "" "" "Germline" "" "" "0" "" "" "g.49751916C>G" "" "pathogenic (recessive)" "" "0000814903" "2" "90" "10" "50953848" "50953848" "subst" "4.06858E-6" "04184" "OGDHL_000009" "g.50953848T>A" "" "{PMID:Yap 2021:34800363}" "" "" "" "Germline" "" "" "0" "" "" "g.49745802T>A" "" "pathogenic (recessive)" "" "0000814904" "3" "90" "10" "50959892" "50959892" "subst" "0.000101662" "04184" "OGDHL_000014" "g.50959892G>A" "" "{PMID:Yap 2021:34800363}" "" "" "" "Germline" "" "" "0" "" "" "g.49751846G>A" "" "pathogenic (recessive)" "" "0000814905" "3" "90" "10" "50952770" "50952770" "del" "0" "04184" "OGDHL_000008" "g.50952770del" "" "{PMID:Yap 2021:34800363}" "" "c.1658del" "" "Germline" "" "" "0" "" "" "g.49744724del" "" "pathogenic (recessive)" "" "0000814906" "3" "90" "10" "50958886" "50958886" "subst" "0" "04184" "OGDHL_000013" "g.50958886T>C" "" "{PMID:Yap 2021:34800363}" "" "" "" "Germline" "" "" "0" "" "" "g.49750840T>C" "" "pathogenic (recessive)" "" "0000814907" "3" "90" "10" "50954002" "50954002" "subst" "8.13769E-6" "04184" "OGDHL_000011" "g.50954002G>A" "" "{PMID:Yap 2021:34800363}" "" "" "" "Germline" "" "" "0" "" "" "g.49745956G>A" "" "pathogenic (recessive)" "" "0000839712" "3" "70" "10" "50954833" "50954833" "subst" "2.03115E-5" "02404" "OGDHL_000021" "g.50954833G>A" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PM2_P, PP1_M, PP3_M, PS3_M" "Germline" "yes" "" "0" "" "" "g.49746787G>A" "" "likely pathogenic (recessive)" "ACMG" "0000839721" "3" "70" "10" "50954833" "50954833" "subst" "2.03115E-5" "02404" "OGDHL_000021" "g.50954833G>A" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PM2_P, PP1_M, PP3_M, PS3_M" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000839723" "3" "70" "10" "50954833" "50954833" "subst" "2.03115E-5" "02404" "OGDHL_000021" "g.50954833G>A" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PM2_P, PP1_M, PP3_M, PS3_M" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000839725" "3" "70" "10" "50944551" "50944551" "subst" "3.68828E-5" "02404" "OGDHL_000017" "g.50944551C>T" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PM2_P, PP1_P, PP3_M, PS3_M" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000839727" "3" "50" "10" "50953986" "50953986" "subst" "1.62517E-5" "02404" "OGDHL_000020" "g.50953986G>A" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PM2_P, PP3_M, BS3_M" "Germline" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000839729" "3" "70" "10" "50955161" "50955161" "subst" "0" "02404" "OGDHL_000022" "g.50955161G>A" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PM2_P, PP3_M, PS3_M" "Germline" "?" "" "0" "" "" "g.49747115G>A" "" "VUS" "ACMG" "0000839732" "3" "30" "10" "50944417" "50944417" "subst" "0" "02404" "OGDHL_000016" "g.50944417T>C" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PM2_P, BP4_M, BS3_M" "Germline" "?" "" "0" "" "" "g.49736371T>C" "" "likely benign" "ACMG" "0000839734" "1" "30" "10" "50959962" "50959962" "subst" "0.000771517" "02404" "OGDHL_000015" "g.50959962C>G" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG BS2_S, BS3_M" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49751916C>G" "" "likely benign (recessive)" "ACMG" "0000839735" "2" "50" "10" "50953533" "50953533" "subst" "6.91811E-5" "02404" "OGDHL_000019" "g.50953533G>A" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PM2_P, PP3_M, PS3_M" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49745487G>A" "" "VUS" "ACMG" "0000839736" "3" "50" "10" "50948763" "50948763" "del" "0" "02404" "OGDHL_000018" "g.50948763del" "" "{PMID:Doll 2020:31906439}, {PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "2133delA" "ACMG PVS1_VS, PM2_P, BS4_S BS3_M" "Germline" "yes" "" "0" "" "" "g.49740717del" "" "VUS" "ACMG" "0000839738" "0" "70" "10" "50945868" "50945868" "subst" "0" "02404" "OGDHL_000006" "g.50945868G>C" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified" "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000839739" "0" "70" "10" "50948878" "50948878" "subst" "0" "02404" "OGDHL_000007" "g.50948878C>T" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified as VUS-favor pathogenic" "SUMMARY record" "" "" "0" "" "" "" "" "VUS (!)" "ACMG" "0000839740" "0" "50" "10" "50953856" "50953856" "subst" "0" "02404" "OGDHL_000010" "g.50953856A>G" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "" "SUMMARY record" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000839741" "1" "50" "10" "50947825" "50947825" "subst" "0.0072651" "02404" "OGDHL_000004" "g.50947825A>G" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified as VUS-favor benign" "SUMMARY record" "" "" "0" "" "" "" "" "VUS (!)" "ACMG" "0000839742" "0" "50" "10" "50957779" "50957779" "subst" "0" "02404" "OGDHL_000012" "g.50957779G>A" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign (recessive)" "ACMG" "0000839743" "0" "30" "10" "50959962" "50959962" "subst" "0.000771517" "02404" "OGDHL_000015" "g.50959962C>G" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified" "SUMMARY record" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000839744" "0" "70" "10" "50953848" "50953848" "subst" "4.06858E-6" "02404" "OGDHL_000009" "g.50953848T>A" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified as VUS-favor pathogenic" "SUMMARY record" "-" "" "0" "" "" "" "" "VUS (!)" "ACMG" "0000839745" "0" "50" "10" "50959892" "50959892" "subst" "0.000101662" "02404" "OGDHL_000014" "g.50959892G>A" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified as VUS-favor pathogenic" "SUMMARY record" "" "" "0" "" "" "" "" "VUS (!)" "ACMG" "0000839746" "0" "90" "10" "50952770" "50952770" "del" "0" "02404" "OGDHL_000003" "g.50952770del" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified" "SUMMARY record" "-" "" "0" "" "" "g.49744724del" "" "pathogenic (recessive)" "ACMG" "0000839747" "0" "70" "10" "50958886" "50958886" "subst" "0" "02404" "OGDHL_000013" "g.50958886T>C" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified as VUS-favor pathogenic" "SUMMARY record" "" "" "0" "" "" "" "" "VUS (!)" "ACMG" "0000839748" "0" "90" "10" "50954002" "50954002" "subst" "8.13769E-6" "02404" "OGDHL_000011" "g.50954002G>A" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified" "SUMMARY record" "-" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000839749" "3" "70" "10" "50946295" "50946295" "subst" "8.1242E-6" "02404" "OGDHL_000001" "g.50946295G>A" "" "{DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Variant functionally tested and re-classified as VUS-favor pathogenic" "SUMMARY record" "" "" "0" "" "" "" "" "VUS (!)" "ACMG" "0000936585" "3" "30" "10" "50957779" "50957779" "subst" "0" "02404" "OGDHL_000012" "g.50957779G>A" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PM2_P, BS3_M; patient has another variant possibly contributing to phenotype" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49749733G>A" "" "likely benign (recessive)" "ACMG" "0000936587" "3" "50" "10" "50947753" "50947753" "subst" "3.25343E-5" "02404" "OGDHL_000023" "g.50947753C>T" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "Patient has another variant but uncertain about contribution to phenotype" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49739707C>T" "" "VUS" "ACMG" "0000936672" "3" "50" "10" "50953940" "50953940" "subst" "0" "02404" "OGDHL_000024" "g.50953940G>C" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PM2_P, PP3_M, BS3_M; patient has another variant possibly contributing to phenotype" "Germline/De novo (untested)" "" "" "0" "" "" "g.49745894G>C" "" "VUS" "ACMG" "0000936673" "0" "50" "10" "50948763" "50948763" "del" "0" "02404" "OGDHL_000018" "g.50948763del" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "ACMG PVS1_VS, PM2_P, BS4_S BS3_M" "Germline" "no" "" "0" "" "" "g.49740717del" "" "VUS" "ACMG" "0000953662" "3" "75" "10" "50946295" "50946295" "subst" "8.1242E-6" "00006" "OGDHL_000001" "g.50946295G>A" "" "{PMID:Yoon 2017:28017472}, {PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "C2333T" "candidate variants in other genes; classified as VUS in Lin 2023 (ACMG PM2, PP3 PS3)" "Germline" "yes" "" "0" "" "" "g.49738249G>A" "" "VUS" "" "0000979056" "0" "50" "10" "50944551" "50944551" "subst" "3.68828E-5" "01804" "OGDHL_000017" "g.50944551C>T" "" "" "" "OGDHL(NM_018245.3):c.2606G>A (p.(Arg869Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979057" "0" "50" "10" "50945827" "50945827" "subst" "4.06124E-6" "01804" "OGDHL_000025" "g.50945827C>T" "" "" "" "OGDHL(NM_018245.3):c.2590+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979058" "0" "50" "10" "50946001" "50946001" "subst" "3.65657E-5" "01804" "OGDHL_000026" "g.50946001G>A" "" "" "" "OGDHL(NM_018245.3):c.2509C>T (p.(Arg837Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979059" "0" "50" "10" "50946024" "50946024" "subst" "4.06124E-6" "01804" "OGDHL_000027" "g.50946024C>T" "" "" "" "OGDHL(NM_018245.3):c.2486G>A (p.(Arg829His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979060" "0" "50" "10" "50947753" "50947753" "subst" "3.25343E-5" "01804" "OGDHL_000023" "g.50947753C>T" "" "" "" "OGDHL(NM_018245.3):c.2273G>A (p.(Arg758Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979061" "0" "50" "10" "50950902" "50950902" "subst" "1.63168E-5" "01804" "OGDHL_000028" "g.50950902C>T" "" "" "" "OGDHL(NM_018245.3):c.1984G>A (p.(Gly662Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979062" "0" "50" "10" "50958990" "50958990" "subst" "5.77372E-5" "01804" "OGDHL_000029" "g.50958990C>T" "" "" "" "OGDHL(NM_018245.3):c.791G>A (p.(Arg264Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979063" "0" "30" "10" "50959962" "50959962" "subst" "0.000771517" "01804" "OGDHL_000015" "g.50959962C>G" "" "" "" "OGDHL(NM_018245.3):c.660G>C (p.(Trp220Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998313" "0" "30" "10" "50964941" "50964941" "subst" "0" "01804" "OGDHL_000030" "g.50964941C>G" "" "" "" "OGDHL(NM_018245.2):c.256G>C (p.(Ala86Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998314" "0" "30" "10" "50966571" "50966571" "subst" "0.0001464" "01804" "OGDHL_000031" "g.50966571T>C" "" "" "" "OGDHL(NM_018245.2):c.68A>G (p.(Asp23Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001019409" "0" "50" "10" "50943323" "50943323" "subst" "7.71843E-5" "03779" "OGDHL_000032" "g.50943323A>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs138770207" "0" "" "" "" "" "VUS" "" "0001037914" "0" "30" "10" "50943404" "50943404" "subst" "0" "01804" "OGDHL_000033" "g.50943404G>A" "" "" "" "OGDHL(NM_018245.3):c.2910-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037915" "0" "30" "10" "50944064" "50944064" "subst" "1.47036E-5" "01804" "OGDHL_000034" "g.50944064T>C" "" "" "" "OGDHL(NM_018245.3):c.2909+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037916" "0" "50" "10" "50944500" "50944500" "subst" "3.65904E-5" "01804" "OGDHL_000035" "g.50944500C>T" "" "" "" "OGDHL(NM_018245.3):c.2657G>A (p.(Arg886Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037917" "0" "50" "10" "50954854" "50954854" "subst" "3.24947E-5" "01804" "OGDHL_000036" "g.50954854A>G" "" "" "" "OGDHL(NM_018245.3):c.1238T>C (p.(Leu413Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037918" "0" "50" "10" "50959892" "50959892" "subst" "0.000101662" "01804" "OGDHL_000014" "g.50959892G>A" "" "" "" "OGDHL(NM_018245.3):c.730C>T (p.(Arg244Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037919" "0" "50" "10" "50960186" "50960186" "subst" "6.90552E-5" "01804" "OGDHL_000037" "g.50960186C>T" "" "" "" "OGDHL(NM_018245.3):c.587G>A (p.(Arg196His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053546" "0" "50" "10" "50946067" "50946067" "subst" "0.000125889" "01804" "OGDHL_000038" "g.50946067C>T" "" "" "" "OGDHL(NM_018245.3):c.2443G>A (p.(Val815Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053547" "0" "50" "10" "50948800" "50948800" "subst" "8.13385E-6" "01804" "OGDHL_000039" "g.50948800G>A" "" "" "" "OGDHL(NM_018245.3):c.2096C>T (p.(Pro699Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053548" "0" "30" "10" "50954789" "50954789" "subst" "4.48029E-5" "01804" "OGDHL_000040" "g.50954789T>C" "" "" "" "OGDHL(NM_018245.3):c.1296+7A>G" "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 OGDHL ## Count = 63 "{{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}}" "0000244231" "00015015" "90" "2333" "0" "2333" "0" "c.2333C>T" "r.(?)" "p.(Ser778Leu)" "" "0000539989" "00015015" "50" "1658" "0" "1658" "0" "c.1658del" "r.(?)" "p.(Cys553LeufsTer16)" "" "0000647911" "00015015" "30" "2201" "0" "2201" "0" "c.2201T>C" "r.(?)" "p.(Phe734Ser)" "" "0000678845" "00015015" "50" "897" "-1" "897" "-1" "c.897-1G>A" "r.spl?" "p.?" "" "0000814865" "00015015" "90" "2554" "0" "2554" "0" "c.2554C>G" "r.(?)" "p.(Pro852Ala)" "" "0000814866" "00015015" "90" "2554" "0" "2554" "0" "c.2554C>G" "r.(?)" "p.(Pro852Ala)" "" "0000814867" "00015015" "90" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Arg673Gln)" "" "0000814868" "00015015" "70" "1464" "0" "1464" "0" "c.1464T>C" "r.[1297_1476del,=]" "p.[Ile433_Leu492del,=]" "" "0000814869" "00015015" "90" "2201" "0" "2201" "0" "c.2201T>C" "r.(?)" "p.(Phe734Ser)" "" "0000814870" "00015015" "90" "980" "0" "980" "0" "c.980C>T" "r.(?)" "p.(Ala327Val)" "" "0000814902" "00015015" "90" "660" "0" "660" "0" "c.660G>C" "r.(?)" "p.(Trp220Cys)" "" "0000814903" "00015015" "90" "1472" "0" "1472" "0" "c.1472A>T" "r.(?)" "p.(Asp491Val)" "" "0000814904" "00015015" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Trp)" "" "0000814905" "00015015" "90" "1658" "0" "1658" "0" "c.1658del" "r.(?)" "p.(Cys553Leufs*16)" "" "0000814906" "00015015" "90" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Arg299Gly)" "" "0000814907" "00015015" "90" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440*)" "" "0000839712" "00015015" "70" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Thr420Met)" "10" "0000839721" "00015015" "70" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Thr420Met)" "" "0000839723" "00015015" "70" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Thr420Met)" "" "0000839725" "00015015" "70" "2606" "0" "2606" "0" "c.2606G>A" "r.(?)" "p.(Arg869Gln)" "" "0000839727" "00015015" "50" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Ser445Leu)" "" "0000839729" "00015015" "70" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Pro361Ser)" "" "0000839732" "00015015" "30" "2740" "0" "2740" "0" "c.2740A>G" "r.(?)" "p.(Thr914Ala)" "" "0000839734" "00015015" "30" "660" "0" "660" "0" "c.660G>C" "r.(?)" "p.(Trp220Cys)" "" "0000839735" "00015015" "50" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Cys)" "" "0000839736" "00015015" "50" "2133" "0" "2133" "0" "c.2133del" "r.(?)" "p.(Val712Serfs*77)" "" "0000839738" "00015015" "70" "2554" "0" "2554" "0" "c.2554C>G" "r.(?)" "p.(Pro852Ala)" "" "0000839739" "00015015" "70" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Arg673Gln)" "" "0000839740" "00015015" "50" "1464" "0" "1464" "0" "c.1464T>C" "r.(?)" "p.(=)" "" "0000839741" "00015015" "50" "2201" "0" "2201" "0" "c.2201T>C" "r.(?)" "p.(Phe734Ser)" "" "0000839742" "00015015" "50" "980" "0" "980" "0" "c.980C>T" "r.(?)" "p.(Ala327Val)" "" "0000839743" "00015015" "30" "660" "0" "660" "0" "c.660G>C" "r.(?)" "p.(Trp220Cys)" "" "0000839744" "00015015" "70" "1472" "0" "1472" "0" "c.1472A>T" "r.(?)" "p.(Asp491Val)" "" "0000839745" "00015015" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Trp)" "" "0000839746" "00015015" "90" "1658" "0" "1658" "0" "c.1658del" "r.(?)" "p.(Cys553Leufs*16)" "" "0000839747" "00015015" "70" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Arg299Gly)" "" "0000839748" "00015015" "90" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440*)" "" "0000839749" "00015015" "70" "2333" "0" "2333" "0" "c.2333C>T" "r.(?)" "p.(Ser778Leu)" "" "0000936585" "00015015" "30" "980" "0" "980" "0" "c.980C>T" "r.(?)" "p.(Ala327Val)" "" "0000936587" "00015015" "50" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Arg758Gln)" "" "0000936672" "00015015" "50" "1380" "0" "1380" "0" "c.1380C>G" "r.(?)" "p.(Phe460Leu)" "" "0000936673" "00015015" "50" "2133" "0" "2133" "0" "c.2133del" "r.(?)" "p.(Val712Serfs*77)" "" "0000953662" "00015015" "75" "2333" "0" "2333" "0" "c.2333C>T" "r.(?)" "p.(Ser778Leu)" "" "0000979056" "00015015" "50" "2606" "0" "2606" "0" "c.2606G>A" "r.(?)" "p.(Arg869Gln)" "" "0000979057" "00015015" "50" "2590" "5" "2590" "5" "c.2590+5G>A" "r.spl?" "p.?" "" "0000979058" "00015015" "50" "2509" "0" "2509" "0" "c.2509C>T" "r.(?)" "p.(Arg837Cys)" "" "0000979059" "00015015" "50" "2486" "0" "2486" "0" "c.2486G>A" "r.(?)" "p.(Arg829His)" "" "0000979060" "00015015" "50" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Arg758Gln)" "" "0000979061" "00015015" "50" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Gly662Arg)" "" "0000979062" "00015015" "50" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264Gln)" "" "0000979063" "00015015" "30" "660" "0" "660" "0" "c.660G>C" "r.(?)" "p.(Trp220Cys)" "" "0000998313" "00015015" "30" "256" "0" "256" "0" "c.256G>C" "r.(?)" "p.(Ala86Pro)" "" "0000998314" "00015015" "30" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Asp23Gly)" "" "0001019409" "00015015" "50" "2984" "0" "2984" "0" "c.2984T>G" "r.(?)" "p.(Phe995Cys)" "" "0001037914" "00015015" "30" "2910" "-7" "2910" "-7" "c.2910-7C>T" "r.(=)" "p.(=)" "" "0001037915" "00015015" "30" "2909" "5" "2909" "5" "c.2909+5A>G" "r.spl?" "p.?" "" "0001037916" "00015015" "50" "2657" "0" "2657" "0" "c.2657G>A" "r.(?)" "p.(Arg886Gln)" "" "0001037917" "00015015" "50" "1238" "0" "1238" "0" "c.1238T>C" "r.(?)" "p.(Leu413Pro)" "" "0001037918" "00015015" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Trp)" "" "0001037919" "00015015" "50" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196His)" "" "0001053546" "00015015" "50" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Val815Met)" "" "0001053547" "00015015" "50" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Pro699Leu)" "" "0001053548" "00015015" "30" "1296" "7" "1296" "7" "c.1296+7A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000151065" "0000244231" "0000270765" "0000936673" "0000291222" "0000647911" "0000297432" "0000936672" "0000387014" "0000814865" "0000387015" "0000814866" "0000387016" "0000814867" "0000387016" "0000814868" "0000387017" "0000814869" "0000387017" "0000814870" "0000387049" "0000814902" "0000387049" "0000814903" "0000387050" "0000814904" "0000387051" "0000814905" "0000387052" "0000814906" "0000387053" "0000814907" "0000404121" "0000839712" "0000404130" "0000839721" "0000404131" "0000839723" "0000404132" "0000839725" "0000404133" "0000839727" "0000404134" "0000839729" "0000404135" "0000839732" "0000404136" "0000839734" "0000404136" "0000839735" "0000404137" "0000839736" "0000440257" "0000936585" "0000440258" "0000936587" "0000445576" "0000953662"