### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TECRL) # 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}}" "TECRL" "trans-2,3-enoyl-CoA reductase-like" "4" "q13.1" "unknown" "NC_000004.11" "UD_133033826869" "" "https://www.LOVD.nl/TECRL" "" "1" "27365" "253017" "617242" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TECRL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-11-19 14:23:58" "00006" "2025-11-19 16:20:55" ## 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}}" "00020957" "TECRL" "trans-2,3-enoyl-CoA reductase-like" "001" "NM_001010874.4" "" "NP_001010874.2" "" "" "" "-109" "2705" "1092" "65275178" "65144177" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00404" "LQT" "QT syndrome, long (LQT)" "" "" "" "" "" "00006" "2014-06-06 17:35:42" "00006" "2015-07-04 16:01:55" "01597" "CPVT" "tachycardia, ventricular (CPVT)" "AD" "192605" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05143" "CPVT3" "tachycardia, ventricular, catecholaminergic polymorphic, type 3" "AR" "614021" "" "" "" "00006" "2016-03-20 12:03:11" "00006" "2025-11-19 14:23:25" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TECRL" "01597" "TECRL" "05143" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00469722" "" "" "" "1" "" "00006" "{PMID:Devalla 2016:27861123}" "" "F" "yes" "Canada" "" "0" "" "" "French-Canadian" "Pat1" "00469724" "" "" "" "1" "" "00006" "{PMID:Devalla 2016:27861123}" "" "F" "" "Canada" "" "0" "" "" "French-Canadian" "Pat2" "00469726" "" "" "" "7" "" "00006" "{PMID:Devalla 2016:27861123}" "4-generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives" "M" "" "Sudan" "" "0" "" "" "" "FamPatIV13" "00469728" "" "" "" "1" "" "00006" "{PMID:Xie 2019:30790670}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "FamPatII1" "00469729" "" "" "" "1" "" "00006" "{PMID:Moscu-Gregor 2020:32173957}" "5-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Germany" "" "0" "" "" "white" "Fam1Pat1" "00469730" "" "" "" "1" "" "00006" "{PMID:Moscu-Gregor 2020:32173957}" "2-generation family, 1 affected, unaffected parents, unaffected carrier children" "F" "" "Germany" "" "0" "" "" "" "Fam2Pat2" "00469731" "" "" "" "2" "" "00006" "{PMID:Moscu-Gregor 2020:32173957}" "2-generation family, 1 affected, unaffected parents, unaffected carrier children" "F;M" "" "Germany" "" "0" "" "" "" "Fam3Pat3/4" "00469732" "" "" "" "1" "" "00006" "{PMID:Moscu-Gregor 2020:32173957}" "2-generation family, 1 affected, unaffected parents," "F" "" "Germany" "" "0" "" "" "" "Fam4Pat5" "00469733" "" "" "" "1" "" "00006" "{PMID:Jones 2024:38777371}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "United States" "" "0" "" "" "" "patient" "00469734" "" "" "" "1" "" "00006" "{PMID:Kulbachinskaya 2024:39564160}" "" "" "" "Russia" "" "0" "" "" "" "Pat12" "00469735" "" "" "" "1" "" "00006" "{PMID:Chen 2025:40453219}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00469722" "01597" "00469724" "00404" "00469726" "00404" "00469728" "01597" "00469729" "01597" "00469730" "01597" "00469731" "01597" "00469732" "01597" "00469733" "01597" "00469734" "01597" "00469735" "01597" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00404, 01597, 05143 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000354875" "01597" "00469722" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., 22y-ventricular fibrillation, cardiac arrest; ECG normal QT interval, isoproterenol infusion resulted in QT prolongation; recurrent episodes exercise‐/emotion‐induced atrial/ventricular arrhythmias" "" "" "" "" "" "" "" "CPVT3" "ventricular fibrillation" "0000354876" "00404" "00469724" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., 18y-numerous syncopal episodes triggered by emotional stress, non‐sustained VT during exercise stress testing; 31y-aborted cardiac arrest; adrenergic atrial/ventricular arrhythmia" "" "" "" "" "" "" "" "CPVT3" "long QT syndrome" "0000354878" "00404" "00469726" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CPVT3" "long QT syndrome" "0000354879" "01597" "00469728" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., intermittent palpitations, three syncope episodes triggered by emotional stress/exercises; ECG resting normal, no prolonged QT interval" "" "" "" "" "" "" "" "CPVT3" "ventricular tachycardia" "0000354881" "01597" "00469729" "00006" "Familial, autosomal recessive" "15y" "see paper; ..." "" "" "" "" "" "" "" "CPVT3" "arrhythmia syndrome" "0000354882" "01597" "00469730" "00006" "Familial, autosomal recessive" "51y" "see paper; ..." "" "" "" "" "" "" "" "CPVT3" "arrhythmia syndrome" "0000354883" "01597" "00469731" "00006" "Familial, autosomal recessive" "13y/10y" "see paper; ..." "" "" "" "" "" "" "" "CPVT3" "arrhythmia syndrome" "0000354884" "01597" "00469732" "00006" "Familial, autosomal recessive" "17y" "see paper; ..." "" "" "" "" "" "" "" "CPVT3" "arrhythmia syndrome" "0000354885" "01597" "00469733" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., 12y-cardiac arrest; HP:0006682 (premature ventricular contractions), -HP:0001663 (no ventricular fibrillation), HP:0004751 (paroxysmal ventricular tachycardia), HP:0001695 (cardiac arrest), -HP:0001962 (no palpitations), HP:0001657 (prolonged QTc), HP:0000729 (autistic behavior), HP:0031195 (apical hypertrabeculation of the left ventricle" "" "" "" "" "" "" "" "CPVT3" "cardiac arrest" "0000354886" "01597" "00469734" "00006" "Familial, autosomal recessive" "24y" "see paper; ..." "14y" "16y" "" "" "" "" "" "CPVT3" "ventricular tachycardia" "0000354887" "01597" "00469735" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., sudden cardiopulmonary arrest; frequent ventricular fibrillation" "" "" "" "" "" "" "" "CPVT3" "sudden cardiopulmonary arrest" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000471391" "00469722" "1" "00006" "00006" "2025-11-19 14:34:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471392" "00469724" "1" "00006" "00006" "2025-11-19 14:41:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471394" "00469726" "1" "00006" "00006" "2025-11-19 14:47:04" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000471396" "00469728" "1" "00006" "00006" "2025-11-19 14:59:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471397" "00469729" "1" "00006" "00006" "2025-11-19 15:29:28" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000471398" "00469730" "1" "00006" "00006" "2025-11-19 15:29:28" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000471399" "00469731" "1" "00006" "00006" "2025-11-19 15:29:28" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000471400" "00469732" "1" "00006" "00006" "2025-11-19 15:29:28" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000471401" "00469733" "1" "00006" "00006" "2025-11-19 15:59:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471402" "00469734" "1" "00006" "00006" "2025-11-19 16:09:26" "" "" "SEQ" "DNA" "" "" "0000471403" "00469735" "1" "00006" "00006" "2025-11-19 16:16:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000471394" "TECRL" "0000471401" "TECRL" "0000471402" "TECRL" ## 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 = 39 "{{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}}" "0000254309" "0" "30" "4" "65147266" "65147266" "subst" "5.46715E-5" "01943" "TECRL_000001" "g.65147266A>C" "" "" "" "TECRL(NM_001010874.4):c.844T>G (p.C282G), TECRL(NM_001010874.5):c.844T>G (p.C282G, p.(Cys282Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64281548A>C" "" "likely benign" "" "0000522992" "0" "50" "4" "65155463" "65155463" "subst" "0" "02330" "TECRL_000004" "g.65155463A>G" "" "" "" "TECRL(NM_001010874.5):c.797T>C (p.F266S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64289745A>G" "" "VUS" "" "0000522994" "0" "10" "4" "65175662" "65175662" "dup" "0" "02330" "TECRL_000002" "g.65175662dup" "" "" "" "TECRL(NM_001010874.5):c.552-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64309944dup" "" "benign" "" "0000522995" "0" "10" "4" "65180351" "65180351" "subst" "0" "02330" "TECRL_000006" "g.65180351G>A" "" "" "" "TECRL(NM_001010874.5):c.551+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64314633G>A" "" "benign" "" "0000522996" "0" "50" "4" "65188408" "65188408" "subst" "0" "02330" "TECRL_000007" "g.65188408G>A" "" "" "" "TECRL(NM_001010874.5):c.434C>T (p.T145I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64322690G>A" "" "VUS" "" "0000522997" "0" "10" "4" "65274937" "65274937" "subst" "0.023628" "02330" "TECRL_000008" "g.65274937G>A" "" "" "" "TECRL(NM_001010874.5):c.133C>T (p.P45S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64409219G>A" "" "benign" "" "0000609278" "0" "50" "4" "65147217" "65147217" "subst" "0.000947332" "02330" "TECRL_000009" "g.65147217A>G" "" "" "" "TECRL(NM_001010874.5):c.893T>C (p.V298A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64281499A>G" "" "VUS" "" "0000621413" "0" "50" "4" "65147266" "65147266" "subst" "5.46715E-5" "02330" "TECRL_000001" "g.65147266A>C" "" "" "" "TECRL(NM_001010874.4):c.844T>G (p.C282G), TECRL(NM_001010874.5):c.844T>G (p.C282G, p.(Cys282Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64281548A>C" "" "VUS" "" "0000655172" "0" "30" "4" "65175662" "65175662" "dup" "0" "02326" "TECRL_000002" "g.65175662dup" "" "" "" "TECRL(NM_001010874.5):c.552-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64309944dup" "" "likely benign" "" "0000655173" "0" "10" "4" "65194279" "65194279" "subst" "5.78598E-5" "02330" "TECRL_000010" "g.65194279T>G" "" "" "" "TECRL(NM_001010874.5):c.287-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64328561T>G" "" "benign" "" "0000689330" "0" "50" "4" "65145869" "65145869" "subst" "1.24644E-5" "02330" "TECRL_000011" "g.65145869T>G" "" "" "" "TECRL(NM_001010874.5):c.1013A>C (p.Q338P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689331" "0" "50" "4" "65146795" "65146795" "subst" "0" "02330" "TECRL_000012" "g.65146795A>T" "" "" "" "TECRL(NM_001010874.5):c.928T>A (p.W310R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689332" "0" "50" "4" "65170892" "65170892" "subst" "0.000109889" "02330" "TECRL_000013" "g.65170892G>A" "" "" "" "TECRL(NM_001010874.5):c.722C>T (p.T241I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719971" "0" "70" "4" "65175610" "65175610" "subst" "0" "02329" "TECRL_000005" "g.65175610G>T" "" "" "" "TECRL(NM_001010874.5):c.591C>A (p.Y197*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719972" "0" "30" "4" "65180463" "65180463" "subst" "0.00060938" "02330" "TECRL_000014" "g.65180463T>C" "" "" "" "TECRL(NM_001010874.5):c.454A>G (p.T152A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801692" "0" "10" "4" "65165679" "65165679" "subst" "4.38204E-5" "02330" "TECRL_000015" "g.65165679A>G" "" "" "" "TECRL(NM_001010874.5):c.774+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850651" "0" "50" "4" "65274945" "65274945" "subst" "8.13584E-6" "01943" "TECRL_000016" "g.65274945G>C" "" "" "" "TECRL(NM_001010874.4):c.125C>G (p.S42*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850652" "0" "50" "4" "65274946" "65274946" "subst" "8.13372E-6" "01943" "TECRL_000017" "g.65274946A>T" "" "" "" "TECRL(NM_001010874.4):c.124T>A (p.S42T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886360" "0" "30" "4" "65180463" "65180463" "subst" "0.00060938" "02326" "TECRL_000014" "g.65180463T>C" "" "" "" "TECRL(NM_001010874.5):c.454A>G (p.T152A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994400" "0" "30" "4" "65155413" "65155418" "dup" "0" "02330" "TECRL_000018" "g.65155413_65155418dup" "" "" "" "TECRL(NM_001010874.5):c.832+20_832+25dupTCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994401" "0" "10" "4" "65180437" "65180437" "subst" "0" "02330" "TECRL_000019" "g.65180437G>A" "" "" "" "TECRL(NM_001010874.5):c.480C>T (p.L160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994402" "0" "30" "4" "65188466" "65188466" "subst" "8.1408E-6" "02330" "TECRL_000020" "g.65188466C>G" "" "" "" "TECRL(NM_001010874.5):c.376G>C (p.A126P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034643" "0" "50" "4" "65147266" "65147266" "subst" "5.46715E-5" "01804" "TECRL_000001" "g.65147266A>C" "" "" "" "TECRL(NM_001010874.4):c.844T>G (p.C282G), TECRL(NM_001010874.5):c.844T>G (p.C282G, p.(Cys282Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034644" "0" "30" "4" "65180352" "65180352" "subst" "0" "02330" "TECRL_000021" "g.65180352T>C" "" "" "" "TECRL(NM_001010874.5):c.551+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059532" "3" "70" "4" "65175614" "65175614" "subst" "2.03847E-5" "00006" "TECRL_000022" "g.65175614C>T" "" "{PMID:Devalla 2016:27861123}" "" "Arg196Gln" "" "Germline" "" "" "0" "" "" "g.64309896C>T" "" "likely pathogenic (recessive)" "" "0001059534" "3" "70" "4" "65175614" "65175614" "subst" "2.03847E-5" "00006" "TECRL_000022" "g.65175614C>T" "" "{PMID:Devalla 2016:27861123}" "" "" "" "Germline" "" "" "0" "" "" "g.64309896C>T" "" "likely pathogenic (recessive)" "" "0001059536" "3" "90" "4" "65194229" "65194229" "subst" "0" "00006" "TECRL_000023" "g.65194229C>T" "" "{PMID:Devalla 2016:27861123}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64328511C>T" "" "likely pathogenic (recessive)" "" "0001059539" "21" "90" "4" "65175614" "65175614" "subst" "2.03847E-5" "00006" "TECRL_000022" "g.65175614C>T" "" "{PMID:Xie 2019:30790670}" "" "" "" "Germline" "" "rs958406908" "0" "" "" "g.64309896C>T" "" "likely pathogenic (recessive)" "" "0001059540" "11" "90" "4" "65147189" "65147189" "subst" "0" "00006" "TECRL_000024" "g.65147189T>G" "" "{PMID:Xie 2019:30790670}" "" "918+3T>G" "" "Germline" "" "" "0" "" "" "g.64281471T>G" "" "likely pathogenic (recessive)" "" "0001059541" "3" "90" "4" "65188427" "65188427" "subst" "0" "00006" "TECRL_000032" "g.65188427G>A" "" "{PMID:Moscu-Gregor 2020:32173957}" "" "" "ACMG PVS1, PM2, PP4" "Germline" "" "" "0" "" "" "g.64322709G>A" "" "pathogenic (recessive)" "" "0001059542" "21" "70" "4" "65147217" "65147217" "subst" "0.000947332" "00006" "TECRL_000009" "g.65147217A>G" "" "{PMID:Moscu-Gregor 2020:32173957}" "" "" "ACMG PM1, PM3, PP3, PP4" "Germline" "yes" "" "0" "" "" "g.64281499A>G" "" "likely pathogenic (recessive)" "" "0001059543" "3" "70" "4" "65147241" "65147241" "subst" "0" "00006" "TECRL_000026" "g.65147241G>T" "" "{PMID:Moscu-Gregor 2020:32173957}" "" "" "ACMG PM1, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.64281523G>T" "" "likely pathogenic (recessive)" "" "0001059544" "3" "50" "4" "64105798" "66190013" "dup" "0" "00006" "TECRL_000027" "g.(?_64105798)_(66190013_?)dup" "" "{PMID:Moscu-Gregor 2020:32173957}" "" "4q13.1 (64105798_66190013)×4" "ACMG PM2, PP4; probable complete gene duplication" "Germline" "" "" "0" "" "" "g.(?_63240080)_(65324295_?)dup" "" "VUS" "" "0001059545" "10" "90" "4" "65146797" "65146797" "subst" "0" "00006" "TECRL_000025" "g.65146797G>T" "" "{PMID:Moscu-Gregor 2020:32173957}" "" "" "ACMG PVS1, PM2, PP4" "Germline" "yes" "" "0" "" "" "g.64281079G>T" "" "pathogenic (recessive)" "" "0001059546" "21" "90" "4" "65147195" "65147195" "subst" "0" "00006" "TECRL_000028" "g.65147195A>C" "" "{PMID:Jones 2024:38777371}" "" "" "" "Germline" "" "" "0" "" "" "g.64281477A>C" "" "likely pathogenic (recessive)" "" "0001059547" "10" "90" "4" "65165944" "65185287" "dup" "0" "00006" "TECRL_000029" "g.(?_65165944)_(65185287_?)dup" "" "{PMID:Jones 2024:38777371}" "" "4:65165944-65185287x3" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_64300226)_(64319569_?)dup" "" "likely pathogenic (recessive)" "" "0001059548" "3" "90" "4" "65165735" "65165735" "subst" "0" "00006" "TECRL_000030" "g.65165735G>Y" "" "{PMID:Kulbachinskaya 2024:39564160}" "" "S244Ter" "variant homozygous or hemizygous" "Germline" "" "" "0" "" "" "g.64300017G>Y" "" "pathogenic (recessive)" "" "0001059549" "11" "90" "4" "65175614" "65175614" "subst" "2.03847E-5" "00006" "TECRL_000022" "g.65175614C>T" "" "{PMID:Chen 2025:40453219}" "" "" "" "Germline" "" "" "0" "" "" "g.64309896C>T" "" "pathogenic (recessive)" "" "0001059550" "21" "70" "4" "65147242" "65147242" "subst" "4.158E-6" "00006" "TECRL_000031" "g.65147242G>A" "" "{PMID:Chen 2025:40453219}" "" "" "ACMG PM2,  PM3, PS3_sup" "Germline" "" "" "0" "" "" "g.64281524G>A" "" "likely pathogenic (recessive)" "" ## 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 TECRL ## Count = 39 "{{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}}" "0000254309" "00020957" "30" "844" "0" "844" "0" "c.844T>G" "r.(?)" "p.(Cys282Gly)" "" "0000522992" "00020957" "50" "797" "0" "797" "0" "c.797T>C" "r.(?)" "p.(Phe266Ser)" "" "0000522994" "00020957" "10" "552" "-5" "552" "-5" "c.552-5dup" "r.spl?" "p.?" "" "0000522995" "00020957" "10" "551" "15" "551" "15" "c.551+15C>T" "r.(=)" "p.(=)" "" "0000522996" "00020957" "50" "434" "0" "434" "0" "c.434C>T" "r.(?)" "p.(Thr145Ile)" "" "0000522997" "00020957" "10" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Pro45Ser)" "" "0000609278" "00020957" "50" "893" "0" "893" "0" "c.893T>C" "r.(?)" "p.(Val298Ala)" "" "0000621413" "00020957" "50" "844" "0" "844" "0" "c.844T>G" "r.(?)" "p.(Cys282Gly)" "" "0000655172" "00020957" "30" "552" "-5" "552" "-5" "c.552-5dup" "r.spl?" "p.?" "" "0000655173" "00020957" "10" "287" "-5" "287" "-5" "c.287-5A>C" "r.spl?" "p.?" "" "0000689330" "00020957" "50" "1013" "0" "1013" "0" "c.1013A>C" "r.(?)" "p.(Gln338Pro)" "" "0000689331" "00020957" "50" "928" "0" "928" "0" "c.928T>A" "r.(?)" "p.(Trp310Arg)" "" "0000689332" "00020957" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Thr241Ile)" "" "0000719971" "00020957" "70" "591" "0" "591" "0" "c.591C>A" "r.(?)" "p.(Tyr197Ter)" "" "0000719972" "00020957" "30" "454" "0" "454" "0" "c.454A>G" "r.(?)" "p.(Thr152Ala)" "" "0000801692" "00020957" "10" "774" "13" "774" "13" "c.774+13T>C" "r.(=)" "p.(=)" "" "0000850651" "00020957" "50" "125" "0" "125" "0" "c.125C>G" "r.(?)" "p.(Ser42*)" "" "0000850652" "00020957" "50" "124" "0" "124" "0" "c.124T>A" "r.(?)" "p.(Ser42Thr)" "" "0000886360" "00020957" "30" "454" "0" "454" "0" "c.454A>G" "r.(?)" "p.(Thr152Ala)" "" "0000994400" "00020957" "30" "832" "20" "832" "25" "c.832+20_832+25dup" "r.(=)" "p.(=)" "" "0000994401" "00020957" "10" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(=)" "" "0000994402" "00020957" "30" "376" "0" "376" "0" "c.376G>C" "r.(?)" "p.(Ala126Pro)" "" "0001034643" "00020957" "50" "844" "0" "844" "0" "c.844T>G" "r.(?)" "p.(Cys282Gly)" "" "0001034644" "00020957" "30" "551" "14" "551" "14" "c.551+14A>G" "r.(=)" "p.(=)" "" "0001059532" "00020957" "70" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196Gln)" "" "0001059534" "00020957" "70" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196Gln)" "" "0001059536" "00020957" "90" "331" "1" "331" "1" "c.331+1G>A" "r.287_331del" "p.Pro97_Gly111del" "3i" "0001059539" "00020957" "90" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196Gln)" "" "0001059540" "00020957" "90" "918" "3" "918" "3" "c.918+3A>C" "r.spl" "p.?" "10i" "0001059541" "00020957" "90" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Gln139Ter)" "" "0001059542" "00020957" "70" "893" "0" "893" "0" "c.893T>C" "r.(?)" "p.(Val298Ala)" "" "0001059543" "00020957" "70" "869" "0" "869" "0" "c.869C>A" "r.(?)" "p.(Pro290His)" "" "0001059544" "00020957" "50" "-914944" "0" "1041084" "0" "c.(?_-914944)_(*1039992_?)dup" "r.(=)" "p.(=)" "" "0001059545" "00020957" "90" "926" "0" "926" "0" "c.926C>A" "r.(?)" "p.(Ser309*)" "" "0001059546" "00020957" "90" "915" "0" "915" "0" "c.915T>G" "r.(?)" "p.(Tyr305*)" "" "0001059547" "00020957" "90" "435" "3120" "731" "-209" "c.(?_435+3120)_(731-209_?)dup" "r.?" "p.?" "" "0001059548" "00020957" "90" "731" "0" "731" "0" "c.731C>R" "r.spl?" "p.(Ser244*)" "" "0001059549" "00020957" "90" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196Gln)" "" "0001059550" "00020957" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Pro290Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000471391" "0001059532" "0000471392" "0001059534" "0000471394" "0001059536" "0000471396" "0001059539" "0000471396" "0001059540" "0000471397" "0001059541" "0000471398" "0001059542" "0000471398" "0001059545" "0000471399" "0001059543" "0000471400" "0001059544" "0000471401" "0001059546" "0000471401" "0001059547" "0000471402" "0001059548" "0000471403" "0001059549" "0000471403" "0001059550"