### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LONP1) # 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}}" "LONP1" "lon peptidase 1, mitochondrial" "19" "p13.2" "unknown" "NG_033142.1" "UD_132439279900" "" "https://www.LOVD.nl/LONP1" "" "1" "9479" "9361" "605490" "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/LONP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-04-16 22:02:21" "00000" "2025-05-05 21:14:00" ## 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}}" "00025266" "LONP1" "transcript variant 1" "002" "NM_004793.3" "" "NP_004784.2" "" "" "" "-126" "3078" "2880" "5720269" "5691845" "00006" "2018-04-16 22:03:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "04190" "CODAS" "cerebral, ocular, dental, auricular, skeletal syndrome (CODAS)" "AR" "600373" "" "autosomal recessive" "" "00006" "2015-02-14 17:17:23" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04225" "-" "neurodegeneration" "" "" "" "" "" "00006" "2015-03-13 20:14:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LONP1" "04190" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00032322" "" "" "" "1" "" "00006" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}, Shebib 1991" "" "" "" "Canada" "" "0" "" "" "Mennonite, German" "" "00032323" "" "" "" "1" "" "00006" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Canada" "" "0" "" "" "European (mixed)" "" "00032324" "" "" "" "1" "" "00006" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "yes" "United States" "" "0" "" "" "Amish, Swiss" "" "00032325" "" "" "" "1" "" "00006" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "yes" "United States" "" "0" "" "" "Amish, Swiss" "" "00032326" "" "" "" "1" "" "00006" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "yes" "United States" "" "0" "" "" "Amish, Swiss" "" "00032327" "" "" "" "1" "" "00006" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "yes" "United States" "" "0" "" "" "Amish, Swiss" "" "00032328" "" "" "" "1" "" "00006" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "yes" "United States" "" "0" "" "" "Amish, Swiss" "" "00032329" "" "" "" "1" "" "00006" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "yes" "United States" "" "0" "" "" "Amish, Swiss" "" "00032330" "" "" "" "1" "" "00006" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "yes" "United States" "" "0" "" "" "Amish, Swiss" "" "00163815" "" "" "" "1" "" "02454" "" "" "M" "yes" "Afghanistan" "" "0" "" "" "" "" "00296613" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "M" "" "Germany" "" "0" "" "" "" "Pat46" "00385500" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16022871" "00414415" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP82" "00441892" "" "" "" "3" "" "00006" "{PMID:Khan 2015:26622071}" "2-generation family, 3 affected sibs (2F, M)" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam24" "00444956" "" "" "" "1" "" "00006" "{PMID:Patel 2017:27878435}" "simplex case" "" "" "" "" "0" "" "" "" "11DG1104" "00444967" "" "" "" "5" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "13DG0017" "00444974" "" "" "" "2" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "14DG0067" "00444975" "" "" "" "1" "" "00006" "{PMID:Patel 2017:27878435}" "simplex case" "" "" "" "" "0" "" "" "" "14DG0179" "00444976" "" "" "" "1" "" "00006" "{PMID:Patel 2017:27878435}" "simplex case" "" "" "" "" "0" "" "" "" "14DG0246" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00032322" "04190" "00032323" "04190" "00032324" "04190" "00032325" "04190" "00032326" "04190" "00032327" "04190" "00032328" "04190" "00032329" "04190" "00032330" "04190" "00163815" "04225" "00296613" "00198" "00385500" "04214" "00414415" "00198" "00441892" "00296" "00444956" "00296" "00444967" "00296" "00444974" "00296" "00444975" "00296" "00444976" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 04190, 04214, 04225 ## Count = 18 "{{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}}" "0000025788" "04190" "00032322" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000025789" "04190" "00032323" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025790" "04190" "00032324" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025791" "04190" "00032325" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025792" "04190" "00032326" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025793" "04190" "00032327" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025794" "04190" "00032328" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025795" "04190" "00032329" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025796" "04190" "00032330" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000224019" "00198" "00296613" "00006" "Unknown" "21y" "muscle affected; central nervous system not affected; heart not affected; liver not affected; progressive external ophthalmoparesis, lactic acidosis, raised CK (800)" "6y" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000279295" "04214" "00385500" "00000" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" "0000306250" "00198" "00414415" "00000" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "CODAS Syndrome" "" "" "0000331280" "00296" "00441892" "00006" "Familial, autosomal recessive" "" "congenital cataract, nuclear" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334206" "00296" "00444956" "00006" "Familial, autosomal recessive" "" "pediatric nuclear cataract; not syndromic" "" "" "" "" "" "" "" "" "CODAS" "cataract" "" "0000334217" "00296" "00444967" "00006" "Familial, autosomal recessive" "" "congenital cataract; not syndromic" "" "" "" "" "" "" "" "" "CODAS" "cataract" "" "0000334224" "00296" "00444974" "00006" "Familial, autosomal recessive" "" "pediatric cataract; not syndromic" "" "" "" "" "" "" "" "" "CODAS" "cataract" "" "0000334225" "00296" "00444975" "00006" "Familial, autosomal recessive" "" "congenital cataract as part of CODAS syndrome; syndromic" "" "" "" "" "" "" "" "" "CODAS" "cataract" "" "0000334226" "00296" "00444976" "00006" "Familial, autosomal recessive" "" "congenital cataract; not syndromic" "" "" "" "" "" "" "" "" "CODAS" "cataract" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000032389" "00032322" "1" "00006" "00006" "2015-02-14 17:20:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032390" "00032323" "1" "00006" "00006" "2015-02-14 17:27:04" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032391" "00032324" "1" "00006" "00006" "2015-02-14 17:31:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032392" "00032325" "1" "00006" "00006" "2015-02-14 17:31:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032393" "00032326" "1" "00006" "00006" "2015-02-14 17:31:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032394" "00032327" "1" "00006" "00006" "2015-02-14 17:31:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032395" "00032328" "1" "00006" "00006" "2015-02-14 17:31:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032396" "00032329" "1" "00006" "00006" "2015-02-14 17:31:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032397" "00032330" "1" "00006" "00006" "2015-02-14 17:31:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000164678" "00163815" "1" "02454" "02454" "2018-04-16 15:00:07" "" "" "SEQ-NG-I" "DNA;protein" "" "" "0000297723" "00296613" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000386729" "00385500" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000415695" "00414415" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000443377" "00441892" "1" "00006" "00006" "2023-11-14 16:19:09" "" "" "SEQ" "DNA" "" "" "0000446525" "00444956" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446536" "00444967" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446543" "00444974" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446544" "00444975" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446545" "00444976" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000032389" "LONP1" "0000032390" "LONP1" "0000032391" "LONP1" "0000032392" "LONP1" "0000032393" "LONP1" "0000032394" "LONP1" "0000032395" "LONP1" "0000032396" "LONP1" "0000032397" "LONP1" "0000386729" "LONP1" "0000415695" "LONP1" "0000443377" "LONP1" ## 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 = 87 "{{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}}" "0000058471" "3" "90" "19" "5694900" "5694900" "subst" "4.09272E-6" "00006" "LONP1_000001" "g.5694900G>A" "" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694889G>A" "" "pathogenic" "" "0000058472" "1" "90" "19" "5696264" "5696264" "subst" "0" "00006" "LONP1_000002" "g.5696264G>T" "" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5696253G>T" "" "pathogenic" "" "0000058473" "3" "90" "19" "5694557" "5694557" "subst" "4.08413E-6" "00006" "LONP1_000003" "g.5694557G>C" "" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694546G>C" "" "pathogenic" "" "0000058474" "2" "90" "19" "5694547" "5694547" "subst" "0" "00006" "LONP1_000004" "g.5694547G>A" "" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694536G>A" "" "pathogenic" "" "0000058475" "3" "90" "19" "5694557" "5694557" "subst" "4.08413E-6" "00006" "LONP1_000003" "g.5694557G>C" "" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694546G>C" "" "pathogenic" "" "0000058476" "3" "90" "19" "5694557" "5694557" "subst" "4.08413E-6" "00006" "LONP1_000003" "g.5694557G>C" "" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694546G>C" "" "pathogenic" "" "0000058477" "3" "90" "19" "5694557" "5694557" "subst" "4.08413E-6" "00006" "LONP1_000003" "g.5694557G>C" "" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694546G>C" "" "pathogenic" "" "0000058478" "3" "90" "19" "5694557" "5694557" "subst" "4.08413E-6" "00006" "LONP1_000003" "g.5694557G>C" "" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694546G>C" "" "pathogenic" "" "0000058479" "3" "90" "19" "5694557" "5694557" "subst" "4.08413E-6" "00006" "LONP1_000003" "g.5694557G>C" "" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694546G>C" "" "pathogenic" "" "0000058480" "3" "90" "19" "5694557" "5694557" "subst" "4.08413E-6" "00006" "LONP1_000003" "g.5694557G>C" "" "{PMID:Strauss 2015:25574826}, {DOI:Strauss 2015:10.1016/j.ajhg.2014.12.003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694546G>C" "" "pathogenic" "" "0000326078" "0" "50" "19" "5691536" "5691536" "subst" "0.00172326" "01804" "RPL36_000001" "g.5691536C>T" "" "" "" "RPL36(NM_015414.3):c.229-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5691525C>T" "" "VUS" "" "0000326079" "0" "30" "19" "5711968" "5711968" "subst" "0" "01804" "LONP1_000006" "g.5711968C>G" "" "" "" "LONP1(NM_004793.3):c.684G>C (p.(Glu228Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5711957C>G" "" "likely benign" "" "0000349618" "0" "70" "19" "5694505" "5694505" "subst" "2.44178E-5" "02327" "LONP1_000007" "g.5694505G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5694494G>A" "" "likely pathogenic" "" "0000368250" "3" "90" "19" "5694436" "5694436" "subst" "1.22129E-5" "02454" "LONP1_000008" "g.5694436G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694425G>A" "" "pathogenic" "" "0000568565" "0" "30" "19" "5688153" "5688153" "subst" "6.77782E-6" "01804" "C19orf70_000002" "g.5688153G>A" "" "" "" "HSD11B1L(NM_001267868.1):c.*197G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5688142G>A" "" "likely benign" "" "0000568566" "0" "30" "19" "5692192" "5692192" "subst" "0.0243758" "01804" "C19orf70_000003" "g.5692192C>T" "" "" "" "LONP1(NM_001276479.1):c.2539G>A (p.(Val847Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5692181C>T" "" "likely benign" "" "0000568567" "0" "30" "19" "5693616" "5693616" "subst" "0.0137998" "01804" "RPL36_000002" "g.5693616C>T" "" "" "" "LONP1(NM_001276479.1):c.2293G>A (p.(Ala765Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5693605C>T" "" "likely benign" "" "0000568568" "0" "30" "19" "5694881" "5694881" "subst" "0" "01804" "RPL36_000003" "g.5694881C>G" "" "" "" "LONP1(NM_001276479.1):c.1853G>C (p.(Cys618Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5694870C>G" "" "likely benign" "" "0000568569" "0" "30" "19" "5694888" "5694888" "subst" "1.22724E-5" "01804" "RPL36_000004" "g.5694888C>T" "" "" "" "LONP1(NM_001276479.1):c.1846G>A (p.(Ala616Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5694877C>T" "" "likely benign" "" "0000568571" "0" "50" "19" "5705886" "5705886" "subst" "1.21835E-5" "01804" "LONP1_000009" "g.5705886G>A" "" "" "" "LONP1(NM_001276479.1):c.1072C>T (p.(Arg358Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5705875G>A" "" "VUS" "" "0000568572" "0" "50" "19" "5705944" "5705946" "del" "0" "01804" "LONP1_000010" "g.5705944_5705946del" "" "" "" "LONP1(NM_001276479.1):c.1016_1018del (p.(Ile339del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5705933_5705935del" "" "VUS" "" "0000568573" "0" "30" "19" "5711775" "5711775" "subst" "0.0173769" "01804" "LONP1_000011" "g.5711775G>A" "" "" "" "LONP1(NM_001276479.1):c.678+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5711764G>A" "" "likely benign" "" "0000568574" "0" "30" "19" "5711910" "5711910" "subst" "0.00144156" "01804" "LONP1_000012" "g.5711910C>T" "" "" "" "LONP1(NM_001276479.1):c.550G>A (p.D184N, p.(Asp184Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5711899C>T" "" "likely benign" "" "0000568575" "0" "10" "19" "5711923" "5711925" "del" "0" "01943" "LONP1_000013" "g.5711923_5711925del" "" "" "" "LONP1(NM_004793.3):c.730_732delAAG (p.K244del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5711912_5711914del" "" "benign" "" "0000568576" "0" "30" "19" "5720074" "5720074" "subst" "0.030407" "01804" "CATSPERD_000001" "g.5720074G>C" "" "" "" "LONP1(NM_001276479.1):c.70C>G (p.(Leu24Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5720063G>C" "" "likely benign" "" "0000568577" "0" "30" "19" "5720074" "5720074" "subst" "0.00782483" "01804" "CATSPERD_000002" "g.5720074G>T" "" "" "" "LONP1(NM_001276479.1):c.70C>A (p.(Leu24Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5720063G>T" "" "likely benign" "" "0000568578" "0" "30" "19" "5720087" "5720087" "subst" "0" "01943" "CATSPERD_000003" "g.5720087C>G" "" "" "" "LONP1(NM_004793.3):c.57G>C (p.L19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5720076C>G" "" "likely benign" "" "0000568580" "0" "30" "19" "5720229" "5720229" "subst" "0" "01804" "CATSPERD_000004" "g.5720229C>T" "" "" "" "LONP1(NM_001276479.1):c.-86G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5720218C>T" "" "likely benign" "" "0000568581" "0" "30" "19" "5720774" "5720774" "subst" "0.00214804" "01804" "CATSPERD_000005" "g.5720774C>G" "" "" "" "CATSPERD(NM_152784.3):c.26C>G (p.(Ala9Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5720763C>G" "" "likely benign" "" "0000617895" "0" "50" "19" "5694462" "5694462" "subst" "4.88186E-5" "01943" "RPL36_000005" "g.5694462G>A" "" "" "" "LONP1(NM_004793.3):c.2256C>T (p.T752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5694451G>A" "" "VUS" "" "0000617896" "0" "50" "19" "5694464" "5694464" "subst" "0" "01943" "RPL36_000006" "g.5694464T>C" "" "" "" "LONP1(NM_004793.3):c.2254A>G (p.T752A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5694453T>C" "" "VUS" "" "0000617897" "0" "30" "19" "5694570" "5694570" "subst" "0.00197878" "01804" "RPL36_000007" "g.5694570G>A" "" "" "" "LONP1(NM_001276479.1):c.1963-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5694559G>A" "" "likely benign" "" "0000617898" "0" "50" "19" "5696093" "5696093" "subst" "0.000519708" "01943" "RPL36_000008" "g.5696093A>C" "" "" "" "LONP1(NM_004793.3):c.1985T>G (p.V662G), LONP1(NM_004793.4):c.1985T>G (p.(Val662Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5696082A>C" "" "VUS" "" "0000617899" "0" "30" "19" "5696672" "5696672" "subst" "0.00383478" "01943" "RPL36_000009" "g.5696672C>T" "" "" "" "LONP1(NM_004793.3):c.1773+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5696661C>T" "" "likely benign" "" "0000617900" "0" "30" "19" "5700942" "5700942" "subst" "4.06633E-6" "01943" "LONP1_000014" "g.5700942C>T" "" "" "" "LONP1(NM_004793.3):c.1368-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5700931C>T" "" "likely benign" "" "0000617901" "0" "30" "19" "5719911" "5719911" "subst" "0.000194934" "01804" "CATSPERD_000007" "g.5719911G>A" "" "" "" "LONP1(NM_004793.3):c.233C>T (p.(Ala78Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5719900G>A" "" "likely benign" "" "0000624095" "0" "30" "19" "5719847" "5719847" "subst" "1.73479E-5" "01943" "CATSPERD_000006" "g.5719847G>A" "" "" "" "LONP1(NM_004793.3):c.297C>T (p.G99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5719836G>A" "" "likely benign" "" "0000660383" "1" "50" "19" "5720065" "5720065" "subst" "0" "00006" "LONP1_000015" "g.5720065C>G" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.5720054C>G" "" "VUS" "" "0000660384" "2" "50" "19" "5693616" "5693616" "subst" "0.0137998" "00006" "RPL36_000002" "g.5693616C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.5693605C>T" "" "VUS" "" "0000681521" "0" "30" "19" "5691531" "5691531" "subst" "0.0412774" "01804" "C19orf70_000008" "g.5691531C>T" "" "" "" "RPL36(NM_015414.3):c.229-12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681522" "0" "30" "19" "5711910" "5711910" "subst" "0.00144156" "01943" "LONP1_000012" "g.5711910C>T" "" "" "" "LONP1(NM_001276479.1):c.550G>A (p.D184N, p.(Asp184Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692893" "0" "30" "19" "5694404" "5694404" "subst" "4.0849E-6" "01804" "RPL36_000010" "g.5694404C>A" "" "" "" "LONP1(NM_001276479.1):c.2122G>T (p.(Ala708Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727541" "0" "50" "19" "5694900" "5694900" "subst" "4.09272E-6" "02329" "LONP1_000001" "g.5694900G>A" "" "" "" "LONP1(NM_004793.4):c.2026C>T (p.P676S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727542" "0" "30" "19" "5696738" "5696738" "subst" "0.000378363" "01943" "LONP1_000016" "g.5696738C>T" "" "" "" "LONP1(NM_004793.3):c.1716G>A (p.K572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727543" "0" "30" "19" "5699091" "5699091" "subst" "0" "01943" "LONP1_000017" "g.5699091G>A" "" "" "" "LONP1(NM_004793.3):c.1632C>T (p.Y544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727544" "0" "50" "19" "5700829" "5700829" "subst" "8.93619E-5" "02329" "LONP1_000005" "g.5700829C>T" "" "" "" "LONP1(NM_004793.4):c.1477G>A (p.G493S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727545" "0" "30" "19" "5705851" "5705851" "subst" "0" "01943" "LONP1_000018" "g.5705851G>A" "" "" "" "LONP1(NM_004793.3):c.1299C>T (p.H433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809070" "0" "30" "19" "5692093" "5692093" "subst" "8.13418E-6" "01804" "C19orf70_000009" "g.5692093C>G" "" "" "" "LONP1(NM_001276479.1):c.2638G>C (p.(Asp880His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814409" "3" "50" "19" "5699062" "5699062" "subst" "0" "00000" "LONP1_000021" "g.5699062T>A" "" "{PMID:Lenassi 2020:31848469}" "" "LONP1 c.1661A>T p.(Asp554Val) hom" "homozygous" "Germline" "?" "" "0" "" "" "g.5699051T>A" "" "VUS" "ACMG" "0000855707" "0" "70" "19" "5693640" "5693640" "subst" "4.06415E-6" "02327" "RPL36_000012" "g.5693640C>T" "" "" "" "LONP1(NM_004793.3):c.2461G>A (p.(Ala821Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855708" "0" "90" "19" "5694900" "5694900" "subst" "4.09272E-6" "02327" "LONP1_000001" "g.5694900G>A" "" "" "" "LONP1(NM_004793.4):c.2026C>T (p.P676S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855709" "0" "30" "19" "5700904" "5700904" "subst" "0.000105583" "01804" "LONP1_000022" "g.5700904T>C" "" "" "" "LONP1(NM_001276479.1):c.1210A>G (p.(Ile404Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866273" "0" "30" "19" "5694866" "5694866" "subst" "0" "01804" "RPL36_000013" "g.5694866C>T" "" "" "" "LONP1(NM_001276479.1):c.1868G>A (p.(Ser623Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866275" "0" "50" "19" "5705841" "5705841" "subst" "0.00306631" "01943" "LONP1_000023" "g.5705841C>T" "" "" "" "LONP1(NM_001276479.1):c.1117G>A (p.(Val373Ile)), LONP1(NM_004793.3):c.1309G>A (p.V437I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866276" "0" "30" "19" "5705841" "5705841" "subst" "0.00306631" "01804" "LONP1_000023" "g.5705841C>T" "" "" "" "LONP1(NM_001276479.1):c.1117G>A (p.(Val373Ile)), LONP1(NM_004793.3):c.1309G>A (p.V437I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873555" "0" "70" "19" "5693709" "5693709" "subst" "0.000914166" "00000" "LONP1_000024" "g.5693709C>T" "182" "{PMID:Sun 2018:30076350}" "" "LONP1(NM_004793.2):c.2392G>A(p.G798S)/c.2290G>A(p.V764M)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.5693698C>T" "" "likely pathogenic" "" "0000873556" "0" "70" "19" "5694428" "5694428" "subst" "8.14498E-6" "00000" "LONP1_000025" "g.5694428C>T" "182" "{PMID:Sun 2018:30076350}" "" "LONP1(NM_004793.2):c.2392G>A(p.G798S)/c.2290G>A(p.V764M)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.5694417C>T" "" "likely pathogenic" "" "0000895142" "0" "30" "19" "5694903" "5694903" "subst" "0.00730677" "01804" "RPL36_000014" "g.5694903C>G" "" "" "" "LONP1(NM_001276479.1):c.1831G>C (p.(Val611Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895143" "0" "50" "19" "5696169" "5696169" "subst" "4.07518E-6" "01804" "RPL36_000015" "g.5696169A>C" "" "" "" "LONP1(NM_001276479.1):c.1717T>G (p.(Cys573Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895144" "0" "30" "19" "5711774" "5711774" "subst" "1.65833E-5" "01804" "LONP1_000026" "g.5711774G>A" "" "" "" "LONP1(NM_001276479.1):c.678+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895145" "0" "30" "19" "5714216" "5714216" "subst" "8.14777E-6" "01804" "LONP1_000027" "g.5714216C>T" "" "" "" "LONP1(NM_001276479.1):c.304G>A (p.(Val102Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926946" "0" "30" "19" "5696157" "5696157" "subst" "0.00605581" "01804" "RPL36_000016" "g.5696157C>T" "" "" "" "LONP1(NM_001276479.1):c.1729G>A (p.(Val577Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931109" "0" "10" "19" "5693638" "5693638" "subst" "0.0125533" "01804" "RPL36_000017" "g.5693638G>A" "" "" "" "LONP1(NM_001276479.1):c.2271C>T (p.(Ala757=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931110" "0" "30" "19" "5696341" "5696341" "subst" "0.000171011" "01804" "RPL36_000018" "g.5696341C>T" "" "" "" "LONP1(NM_001276479.1):c.1623G>A (p.(Ser541=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931111" "0" "50" "19" "5707760" "5707760" "subst" "2.85109E-5" "01804" "LONP1_000028" "g.5707760G>A" "" "" "" "LONP1(NM_001276479.1):c.818C>T (p.(Ala273Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944790" "3" "90" "19" "5694912" "5694912" "subst" "5.33346E-5" "00006" "LONP1_000029" "g.5694912G>A" "" "{PMID:Khan 2015:26622071}" "" "" "candidate disease gene; variant absent in 352 controls" "Germline" "" "" "0" "" "" "g.5694901G>A" "" "pathogenic (recessive)" "" "0000951363" "0" "30" "19" "5687813" "5687813" "subst" "0.000232567" "01804" "C19orf70_000010" "g.5687813G>A" "" "" "" "HSD11B1L(NM_001267868.1):c.859G>A (p.(Val287Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000954869" "3" "90" "19" "5699111" "5699111" "subst" "0.000332696" "00006" "LONP1_000030" "g.5699111G>A" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5699100G>A" "" "pathogenic (recessive)" "" "0000954880" "3" "90" "19" "5694912" "5694912" "subst" "5.33346E-5" "00006" "LONP1_000029" "g.5694912G>A" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694901G>A" "" "pathogenic (recessive)" "" "0000954887" "3" "90" "19" "5694912" "5694912" "subst" "5.33346E-5" "00006" "LONP1_000029" "g.5694912G>A" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694901G>A" "" "pathogenic (recessive)" "" "0000954888" "3" "90" "19" "5720100" "5720100" "subst" "0" "00006" "LONP1_000031" "g.5720100C>G" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5720089C>G" "" "pathogenic (recessive)" "" "0000954889" "3" "90" "19" "5694912" "5694912" "subst" "5.33346E-5" "00006" "LONP1_000029" "g.5694912G>A" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.5694901G>A" "" "pathogenic (recessive)" "" "0000970006" "0" "50" "19" "5692207" "5692207" "subst" "8.17227E-6" "02325" "C19orf70_000012" "g.5692207C>A" "" "" "" "LONP1(NM_004793.4):c.2716G>T (p.G906W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970008" "0" "30" "19" "5720023" "5720023" "subst" "0" "01804" "CATSPERD_000010" "g.5720023G>C" "" "" "" "LONP1(NM_001276479.1):c.121C>G (p.(Arg41Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983671" "0" "50" "19" "5696093" "5696093" "subst" "0.000519708" "01804" "RPL36_000008" "g.5696093A>C" "" "" "" "LONP1(NM_004793.3):c.1985T>G (p.V662G), LONP1(NM_004793.4):c.1985T>G (p.(Val662Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005167" "0" "50" "19" "5693409" "5693409" "subst" "0" "01804" "C19orf70_000013" "g.5693409G>A" "" "" "" "LONP1(NM_004793.3):c.2603C>T (p.(Ala868Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005168" "0" "50" "19" "5693640" "5693640" "subst" "4.06415E-6" "01804" "RPL36_000012" "g.5693640C>T" "" "" "" "LONP1(NM_004793.3):c.2461G>A (p.(Ala821Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005169" "0" "50" "19" "5696111" "5696111" "subst" "0" "01804" "RPL36_000019" "g.5696111A>G" "" "" "" "LONP1(NM_004793.3):c.1967T>C (p.(Ile656Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005170" "0" "50" "19" "5699123" "5699123" "subst" "0.000143011" "01804" "LONP1_000032" "g.5699123G>A" "" "" "" "LONP1(NM_004793.3):c.1600C>T (p.(Arg534Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005171" "0" "50" "19" "5719788" "5719788" "subst" "0" "01804" "CATSPERD_000011" "g.5719788T>C" "" "" "" "LONP1(NM_004793.3):c.356A>G (p.(Asp119Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043188" "0" "50" "19" "5694843" "5694843" "subst" "0" "01804" "RPL36_000020" "g.5694843C>T" "" "" "" "LONP1(NM_004793.4):c.2083G>A (p.(Val695Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043189" "0" "30" "19" "5696164" "5696164" "subst" "0.00107197" "01804" "RPL36_000021" "g.5696164C>T" "" "" "" "LONP1(NM_004793.4):c.1914G>A (p.(Thr638=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043190" "0" "50" "19" "5696181" "5696181" "subst" "4.07767E-6" "01804" "RPL36_000022" "g.5696181C>G" "" "" "" "LONP1(NM_004793.4):c.1897G>C (p.(Val633Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043191" "0" "50" "19" "5696330" "5696330" "subst" "0" "01804" "RPL36_000023" "g.5696330T>C" "" "" "" "LONP1(NM_004793.4):c.1826A>G (p.(Glu609Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043192" "0" "50" "19" "5696749" "5696749" "subst" "3.66438E-5" "01804" "LONP1_000033" "g.5696749T>G" "" "" "" "LONP1(NM_004793.4):c.1705A>C (p.(Met569Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043193" "0" "50" "19" "5699116" "5699116" "subst" "0" "01804" "LONP1_000034" "g.5699116A>G" "" "" "" "LONP1(NM_004793.4):c.1607T>C (p.(Ile536Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043194" "0" "30" "19" "5719832" "5719832" "subst" "0" "01804" "CATSPERD_000012" "g.5719832C>T" "" "" "" "LONP1(NM_001276479.2):c.125-5G>A" "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 LONP1 ## Count = 87 "{{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}}" "0000058471" "00025266" "90" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Pro676Ser)" "" "0000058472" "00025266" "90" "1892" "0" "1892" "0" "c.1892C>A" "r.(?)" "p.(Ser631Tyr)" "" "0000058473" "00025266" "00" "2161" "0" "2161" "0" "c.2161C>G" "r.(?)" "p.(Arg721Gly)" "" "0000058474" "00025266" "90" "2171" "0" "2171" "0" "c.2171C>T" "r.(?)" "p.(Ala724Val)" "" "0000058475" "00025266" "90" "2161" "0" "2161" "0" "c.2161C>G" "r.(?)" "p.(Arg721Gly)" "" "0000058476" "00025266" "90" "2161" "0" "2161" "0" "c.2161C>G" "r.(?)" "p.(Arg721Gly)" "" "0000058477" "00025266" "90" "2161" "0" "2161" "0" "c.2161C>G" "r.(?)" "p.(Arg721Gly)" "" "0000058478" "00025266" "50" "2161" "0" "2161" "0" "c.2161C>G" "r.(?)" "p.(Arg721Gly)" "" "0000058479" "00025266" "90" "2161" "0" "2161" "0" "c.2161C>G" "r.(?)" "p.(Arg721Gly)" "" "0000058480" "00025266" "90" "2161" "0" "2161" "0" "c.2161C>G" "r.(?)" "p.(Arg721Gly)" "" "0000326078" "00025266" "50" "3387" "0" "3387" "0" "c.*507G>A" "r.(=)" "p.(=)" "" "0000326079" "00025266" "30" "684" "0" "684" "0" "c.684G>C" "r.(?)" "p.(Glu228Asp)" "" "0000349618" "00025266" "70" "2213" "0" "2213" "0" "c.2213C>T" "r.(?)" "p.(Thr738Met)" "" "0000368250" "00025266" "90" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Pro761Leu)" "" "0000568565" "00025266" "30" "6770" "0" "6770" "0" "c.*3890C>T" "r.(=)" "p.(=)" "" "0000568566" "00025266" "30" "2731" "0" "2731" "0" "c.2731G>A" "r.(?)" "p.(Val911Ile)" "" "0000568567" "00025266" "30" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Ala829Thr)" "" "0000568568" "00025266" "30" "2045" "0" "2045" "0" "c.2045G>C" "r.(?)" "p.(Cys682Ser)" "" "0000568569" "00025266" "30" "2038" "0" "2038" "0" "c.2038G>A" "r.(?)" "p.(Ala680Thr)" "" "0000568571" "00025266" "50" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Trp)" "" "0000568572" "00025266" "50" "1208" "0" "1210" "0" "c.1208_1210del" "r.(?)" "p.(Ile403del)" "" "0000568573" "00025266" "30" "870" "7" "870" "7" "c.870+7C>T" "r.(=)" "p.(=)" "" "0000568574" "00025266" "30" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Asp248Asn)" "" "0000568575" "00025266" "10" "730" "0" "732" "0" "c.730_732del" "r.(?)" "p.(Lys244del)" "" "0000568576" "00025266" "30" "70" "0" "70" "0" "c.70C>G" "r.(?)" "p.(Leu24Val)" "" "0000568577" "00025266" "30" "70" "0" "70" "0" "c.70C>A" "r.(?)" "p.(Leu24Met)" "" "0000568578" "00025266" "30" "57" "0" "57" "0" "c.57G>C" "r.(?)" "p.(Leu19=)" "" "0000568580" "00025266" "30" "-86" "0" "-86" "0" "c.-86G>A" "r.(?)" "p.(=)" "" "0000568581" "00025266" "30" "-631" "0" "-631" "0" "c.-631G>C" "r.(?)" "p.(=)" "" "0000617895" "00025266" "50" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(Thr752=)" "" "0000617896" "00025266" "50" "2254" "0" "2254" "0" "c.2254A>G" "r.(?)" "p.(Thr752Ala)" "" "0000617897" "00025266" "30" "2155" "-7" "2155" "-7" "c.2155-7C>T" "r.(=)" "p.(=)" "" "0000617898" "00025266" "50" "1985" "0" "1985" "0" "c.1985T>G" "r.(?)" "p.(Val662Gly)" "" "0000617899" "00025266" "30" "1773" "9" "1773" "9" "c.1773+9G>A" "r.(=)" "p.(=)" "" "0000617900" "00025266" "30" "1368" "-4" "1368" "-4" "c.1368-4G>A" "r.spl?" "p.?" "" "0000617901" "00025266" "30" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Ala78Val)" "" "0000624095" "00025266" "30" "297" "0" "297" "0" "c.297C>T" "r.(?)" "p.(Gly99=)" "" "0000660383" "00025266" "50" "79" "0" "79" "0" "c.79G>C" "r.(?)" "p.(Ala27Pro)" "" "0000660384" "00025266" "50" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Ala829Thr)" "" "0000681521" "00025266" "30" "3392" "0" "3392" "0" "c.*512G>A" "r.(=)" "p.(=)" "" "0000681522" "00025266" "30" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Asp248Asn)" "" "0000692893" "00025266" "30" "2314" "0" "2314" "0" "c.2314G>T" "r.(?)" "p.(Ala772Ser)" "" "0000727541" "00025266" "50" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Pro676Ser)" "" "0000727542" "00025266" "30" "1716" "0" "1716" "0" "c.1716G>A" "r.(?)" "p.(Lys572=)" "" "0000727543" "00025266" "30" "1632" "0" "1632" "0" "c.1632C>T" "r.(?)" "p.(Tyr544=)" "" "0000727544" "00025266" "50" "1477" "0" "1477" "0" "c.1477G>A" "r.(?)" "p.(Gly493Ser)" "" "0000727545" "00025266" "30" "1299" "0" "1299" "0" "c.1299C>T" "r.(?)" "p.(His433=)" "" "0000809070" "00025266" "30" "2830" "0" "2830" "0" "c.2830G>C" "r.(?)" "p.(Asp944His)" "" "0000814409" "00025266" "50" "1661" "0" "1661" "0" "c.1661A>T" "r.(?)" "p.(Asp554Val)" "" "0000855707" "00025266" "70" "2461" "0" "2461" "0" "c.2461G>A" "r.(?)" "p.(Ala821Thr)" "" "0000855708" "00025266" "90" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Pro676Ser)" "" "0000855709" "00025266" "30" "1402" "0" "1402" "0" "c.1402A>G" "r.(?)" "p.(Ile468Val)" "" "0000866273" "00025266" "30" "2060" "0" "2060" "0" "c.2060G>A" "r.(?)" "p.(Ser687Asn)" "" "0000866275" "00025266" "50" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Val437Ile)" "" "0000866276" "00025266" "30" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Val437Ile)" "" "0000873555" "00025266" "70" "2392" "0" "2392" "0" "c.2392G>A" "r.(?)" "p.(Gly798Ser)" "" "0000873556" "00025266" "70" "2290" "0" "2290" "0" "c.2290G>A" "r.(?)" "p.(Val764Met)" "" "0000895142" "00025266" "30" "2023" "0" "2023" "0" "c.2023G>C" "r.(?)" "p.(Val675Leu)" "" "0000895143" "00025266" "50" "1909" "0" "1909" "0" "c.1909T>G" "r.(?)" "p.(Cys637Gly)" "" "0000895144" "00025266" "30" "870" "8" "870" "8" "c.870+8C>T" "r.(=)" "p.(=)" "" "0000895145" "00025266" "30" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Val166Ile)" "" "0000926946" "00025266" "30" "1921" "0" "1921" "0" "c.1921G>A" "r.(?)" "p.(Val641Ile)" "" "0000931109" "00025266" "10" "2463" "0" "2463" "0" "c.2463C>T" "r.(?)" "p.(=)" "" "0000931110" "00025266" "30" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(=)" "" "0000931111" "00025266" "50" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Ala337Val)" "" "0000944790" "00025266" "90" "2014" "0" "2014" "0" "c.2014C>T" "r.(?)" "p.(Arg672Cys)" "" "0000951363" "00025266" "30" "7110" "0" "7110" "0" "c.*4230C>T" "r.(=)" "p.(=)" "" "0000954869" "00025266" "90" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Cys)" "" "0000954880" "00025266" "90" "2014" "0" "2014" "0" "c.2014C>T" "r.(?)" "p.(Arg672Cys)" "" "0000954887" "00025266" "90" "2014" "0" "2014" "0" "c.2014C>T" "r.(?)" "p.(Arg672Cys)" "" "0000954888" "00025266" "90" "44" "0" "44" "0" "c.44G>C" "r.(?)" "p.(Arg15Pro)" "" "0000954889" "00025266" "90" "2014" "0" "2014" "0" "c.2014C>T" "r.(?)" "p.(Arg672Cys)" "" "0000970006" "00025266" "50" "2716" "0" "2716" "0" "c.2716G>T" "r.(?)" "p.(Gly906Trp)" "" "0000970008" "00025266" "30" "121" "0" "121" "0" "c.121C>G" "r.(?)" "p.(Arg41Gly)" "" "0000983671" "00025266" "50" "1985" "0" "1985" "0" "c.1985T>G" "r.(?)" "p.(Val662Gly)" "" "0001005167" "00025266" "50" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Ala868Val)" "" "0001005168" "00025266" "50" "2461" "0" "2461" "0" "c.2461G>A" "r.(?)" "p.(Ala821Thr)" "" "0001005169" "00025266" "50" "1967" "0" "1967" "0" "c.1967T>C" "r.(?)" "p.(Ile656Thr)" "" "0001005170" "00025266" "50" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Cys)" "" "0001005171" "00025266" "50" "356" "0" "356" "0" "c.356A>G" "r.(?)" "p.(Asp119Gly)" "" "0001043188" "00025266" "50" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Val695Met)" "" "0001043189" "00025266" "30" "1914" "0" "1914" "0" "c.1914G>A" "r.(?)" "p.(=)" "" "0001043190" "00025266" "50" "1897" "0" "1897" "0" "c.1897G>C" "r.(?)" "p.(Val633Leu)" "" "0001043191" "00025266" "50" "1826" "0" "1826" "0" "c.1826A>G" "r.(?)" "p.(Glu609Gly)" "" "0001043192" "00025266" "50" "1705" "0" "1705" "0" "c.1705A>C" "r.(?)" "p.(Met569Leu)" "" "0001043193" "00025266" "50" "1607" "0" "1607" "0" "c.1607T>C" "r.(?)" "p.(Ile536Thr)" "" "0001043194" "00025266" "30" "312" "0" "312" "0" "c.312G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000032389" "0000058471" "0000032390" "0000058472" "0000032390" "0000058474" "0000032391" "0000058473" "0000032392" "0000058475" "0000032393" "0000058476" "0000032394" "0000058477" "0000032395" "0000058478" "0000032396" "0000058479" "0000032397" "0000058480" "0000164678" "0000368250" "0000297723" "0000660383" "0000297723" "0000660384" "0000386729" "0000814409" "0000415695" "0000873555" "0000415695" "0000873556" "0000443377" "0000944790" "0000446525" "0000954869" "0000446536" "0000954880" "0000446543" "0000954887" "0000446544" "0000954888" "0000446545" "0000954889"