### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AIMP1) # 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}}" "AIMP1" "aminoacyl tRNA synthetase complex-interacting multifunctional protein 1" "4" "q24" "unknown" "NG_028166.1" "UD_132118736066" "" "http://www.LOVD.nl/AIMP1" "" "1" "10648" "9255" "603605" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/AIMP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-02-15 09:48:38" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024016" "AIMP1" "transcript variant 2" "001" "NM_001142415.1" "" "NP_001135887.1" "" "" "" "-52" "2472" "939" "107236767" "107270382" "00006" "2015-02-15 09:46:53" "" "" "00024344" "AIMP1" "transcript variant 1" "002" "NM_004757.3" "" "NP_004748.2" "" "" "" "-674" "2472" "939" "107236853" "107270382" "00000" "2017-08-07 16:52:43" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "02003" "HLD3" "leukodystrophy, hypomyelinating, type 3 (HLD-3)" "AR" "260600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AIMP1" "00139" "AIMP1" "02003" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00029766" "" "" "" "5" "" "01225" "" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00029767" "" "" "" "2" "" "01225" "" "" "" "yes" "Iran" "" "0" "" "" "Irani" "" "00387713" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M105" "00438285" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00029766" "04147" "00029767" "04147" "00387713" "00139" "00438285" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 02003, 04147, 04270 ## Count = 4 "{{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}}" "0000025733" "04147" "00029766" "01225" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000025734" "04147" "00029767" "01225" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000281281" "00139" "00387713" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "intellectual disability" "0000328189" "04270" "00438285" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0025356 pschomotor retardation; HP:0004395 malnutrition" "2y" "" "" "" "" "" "" "" "epilepsy" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029810" "00029766" "1" "01225" "01225" "2015-02-05 13:05:09" "00006" "2015-02-15 09:54:42" "SEQ;SEQ-NG" "DNA" "blood" "" "0000029811" "00029767" "1" "01225" "01225" "2015-02-05 23:48:50" "00006" "2015-02-15 09:55:09" "SEQ;SEQ-NG" "DNA" "" "" "0000388944" "00387713" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000439767" "00438285" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000029810" "AIMP1" "0000029811" "AIMP1" "0000388944" "AIMP1" ## 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 = 57 "{{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}}" "0000055896" "3" "70" "4" "107268805" "107268805" "subst" "8.15701E-6" "01225" "AIMP1_000001" "g.107268805G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.106347648G>A" "" "likely pathogenic" "" "0000055897" "3" "70" "4" "107252964" "107252964" "subst" "0" "01225" "AIMP1_000002" "g.107252964T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.106331807T>G" "" "likely pathogenic" "" "0000249418" "0" "30" "4" "107249368" "107249368" "subst" "0.000138896" "02325" "AIMP1_000006" "g.107249368A>G" "" "" "" "AIMP1(NM_004757.4):c.359A>G (p.E120G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106328211A>G" "" "likely benign" "" "0000259004" "0" "10" "4" "107246136" "107246136" "subst" "0.173479" "02325" "AIMP1_000003" "g.107246136C>A" "" "" "" "AIMP1(NM_004757.4):c.-25-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106324979C>A" "" "benign" "" "0000260689" "0" "90" "4" "107249343" "107249343" "subst" "0" "02326" "AIMP1_000005" "g.107249343C>T" "" "" "" "AIMP1(NM_004757.3):c.334C>T (p.Q112*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106328186C>T" "" "pathogenic" "" "0000314434" "0" "90" "4" "107183260" "107183260" "subst" "7.98618E-5" "02326" "TBCK_000004" "g.107183260G>A" "" "" "" "TBCK(NM_001163435.3):c.376C>T (p.R126*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106262103G>A" "" "pathogenic" "" "0000316278" "0" "30" "4" "107114937" "107114937" "subst" "0.000237773" "01943" "TBCK_000014" "g.107114937G>A" "" "" "" "TBCK(NM_001163435.3):c.1898-10C>T, TBCK(NM_001290768.1):c.1382-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106193780G>A" "" "likely benign" "" "0000344051" "0" "50" "4" "107268755" "107268755" "subst" "0" "02327" "AIMP1_000007" "g.107268755A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106347598A>G" "" "VUS" "" "0000521122" "0" "30" "4" "106967749" "106967749" "subst" "0.00174398" "01943" "AIMP1_000008" "g.106967749G>A" "" "" "" "TBCK(NM_001290768.1):c.2144C>T (p.T715I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106046592G>A" "" "likely benign" "" "0000521123" "0" "30" "4" "107037412" "107037412" "subst" "0" "01804" "AIMP1_000009" "g.107037412T>A" "" "" "" "TBCK(NM_001163435.1):c.2359A>T (p.(Thr787Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106116255T>A" "" "likely benign" "" "0000521124" "0" "90" "4" "107154099" "107154099" "subst" "1.63698E-5" "02327" "AIMP1_000010" "g.107154099C>T" "" "" "" "TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106232942C>T" "" "pathogenic" "" "0000521125" "0" "90" "4" "107154099" "107154099" "subst" "1.63698E-5" "02325" "AIMP1_000010" "g.107154099C>T" "" "" "" "TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106232942C>T" "" "pathogenic" "" "0000521127" "0" "90" "4" "107168423" "107168424" "ins" "0" "02327" "AIMP1_000012" "g.107168423_107168424insTTCA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106247266_106247267insTTCA" "" "pathogenic" "" "0000521129" "0" "90" "4" "107183260" "107183260" "subst" "7.98618E-5" "02325" "TBCK_000004" "g.107183260G>A" "" "" "" "TBCK(NM_001163435.3):c.376C>T (p.R126*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106262103G>A" "" "pathogenic" "" "0000521130" "0" "30" "4" "107246152" "107246152" "subst" "1.67954E-5" "01943" "AIMP1_000014" "g.107246152C>T" "" "" "" "AIMP1(NM_001142416.1):c.58C>T (p.R20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106324995C>T" "" "likely benign" "" "0000521131" "0" "50" "4" "107248623" "107248623" "subst" "4.06299E-6" "01804" "AIMP1_000015" "g.107248623T>C" "" "" "" "AIMP1(NM_004757.3):c.125T>C (p.(Leu42Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106327466T>C" "" "VUS" "" "0000521132" "0" "90" "4" "107249358" "107249358" "del" "0" "02329" "AIMP1_000016" "g.107249358del" "" "" "" "AIMP1(NM_004757.4):c.349delA (p.T117Qfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106328201del" "" "pathogenic" "" "0000521133" "0" "30" "4" "107258016" "107258016" "subst" "5.2852E-5" "01943" "AIMP1_000017" "g.107258016T>C" "" "" "" "AIMP1(NM_004757.3):c.604-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106336859T>C" "" "likely benign" "" "0000608964" "0" "30" "4" "107168394" "107168394" "subst" "0" "01943" "AIMP1_000019" "g.107168394G>A" "" "" "" "TBCK(NM_001290768.1):c.317C>T (p.P106L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106247237G>A" "" "likely benign" "" "0000608965" "0" "50" "4" "107253029" "107253029" "subst" "0.000666553" "01943" "AIMP1_000021" "g.107253029C>T" "" "" "" "AIMP1(NM_004757.3):c.592C>T (p.P198S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106331872C>T" "" "VUS" "" "0000621334" "0" "30" "4" "107248644" "107248644" "subst" "4.06352E-6" "01943" "AIMP1_000020" "g.107248644G>A" "" "" "" "AIMP1(NM_004757.3):c.146G>A (p.R49Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106327487G>A" "" "likely benign" "" "0000677144" "0" "70" "4" "107168423" "107168426" "del" "0" "02325" "TBCK_000002" "g.107168423_107168426del" "" "" "" "TBCK(NM_001163435.1):c.803_806delTGAA (p.(Met268fs)), TBCK(NM_001290768.2):c.287_290delTGAA (p.M96Rfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689187" "0" "30" "4" "107157622" "107157622" "subst" "0.000895594" "02326" "AIMP1_000022" "g.107157622C>T" "" "" "" "TBCK(NM_001290768.2):c.759G>A (p.T253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719679" "0" "30" "4" "107016622" "107016622" "subst" "4.53788E-5" "02326" "AIMP1_000023" "g.107016622T>A" "" "" "" "TBCK(NM_001290768.2):c.2055+17A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719680" "0" "30" "4" "107152917" "107152917" "subst" "0" "01943" "AIMP1_000024" "g.107152917A>T" "" "" "" "TBCK(NM_001290768.1):c.1143T>A (p.A381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719681" "0" "30" "4" "107154126" "107154126" "subst" "0.000562159" "01943" "AIMP1_000025" "g.107154126T>C" "" "" "" "TBCK(NM_001290768.1):c.1092A>G (p.V364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719682" "0" "50" "4" "107163667" "107163667" "subst" "0.00208356" "01943" "TBCK_000018" "g.107163667T>A" "" "" "" "TBCK(NM_001290768.1):c.614A>T (p.D205V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719683" "0" "30" "4" "107163675" "107163675" "subst" "0.000147998" "02326" "AIMP1_000026" "g.107163675C>A" "" "" "" "TBCK(NM_001290768.2):c.606G>T (p.S202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719684" "0" "50" "4" "107165879" "107165879" "subst" "0.00183014" "01943" "AIMP1_000027" "g.107165879A>G" "" "" "" "TBCK(NM_001290768.1):c.458T>C (p.V153A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719685" "0" "50" "4" "107165912" "107165912" "subst" "0.000396857" "01943" "AIMP1_000028" "g.107165912T>C" "" "" "" "TBCK(NM_001290768.1):c.425A>G (p.N142S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719686" "0" "50" "4" "107249347" "107249347" "dup" "0" "01943" "AIMP1_000029" "g.107249347dup" "" "" "" "AIMP1(NM_004757.3):c.338dupT (p.G115Rfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801444" "0" "90" "4" "107154099" "107154099" "subst" "1.63698E-5" "01943" "AIMP1_000010" "g.107154099C>T" "" "" "" "TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000817737" "3" "70" "4" "107252964" "107252964" "subst" "0" "00006" "AIMP1_000002" "g.107252964T>G" "" "{PMID:Hu 2019:29302074}" "" "" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.106331807T>G" "" "likely pathogenic (recessive)" "" "0000850472" "0" "30" "4" "106967850" "106967850" "dup" "0" "01943" "AIMP1_000030" "g.106967850dup" "" "" "" "TBCK(NM_001290768.1):c.2056-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850473" "0" "50" "4" "107092301" "107092301" "subst" "1.22635E-5" "01943" "AIMP1_000031" "g.107092301G>C" "" "" "" "TBCK(NM_001290768.1):c.1670C>G (p.S557W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850474" "0" "70" "4" "107114854" "107114854" "dup" "0" "02329" "AIMP1_000032" "g.107114854dup" "" "" "" "TBCK(NM_001290768.2):c.1455dupT (p.I486Yfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850475" "0" "50" "4" "107170110" "107170110" "subst" "0" "01943" "AIMP1_000034" "g.107170110C>T" "" "" "" "TBCK(NM_001290768.1):c.172G>A (p.A58T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859201" "0" "30" "4" "107157562" "107157562" "subst" "0.000726786" "01943" "AIMP1_000033" "g.107157562G>A" "" "" "" "TBCK(NM_001290768.1):c.819C>T (p.F273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886075" "0" "70" "4" "107181669" "107181669" "subst" "0" "02327" "TBCK_000020" "g.107181669T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912023" "0" "50" "4" "107037360" "107037360" "subst" "0" "02327" "AIMP1_000035" "g.107037360T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912024" "0" "70" "4" "107169448" "107169449" "del" "0" "01804" "AIMP1_000036" "g.107169448_107169449del" "" "" "" "TBCK(NM_001163435.1):c.737_738del (p.(Val246Aspfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912025" "0" "50" "4" "107181631" "107181631" "subst" "9.08678E-6" "02327" "AIMP1_000037" "g.107181631T>C" "" "" "" "TBCK(NM_001163435.3):c.418A>G (p.(Met140Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912026" "0" "70" "4" "107183323" "107183323" "subst" "0" "01804" "AIMP1_000038" "g.107183323G>A" "" "" "" "TBCK(NM_001163435.1):c.313C>T (p.(Gln105*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000935896" "3" "90" "4" "107249259" "107249261" "delins" "0" "00006" "AIMP1_000039" "g.107249259_107249261delinsGG" "" "{PMID:Chuan 2022:35571021}" "" "NM_004757.3:c.250_252delACTinsGG" "ACMG PVS1,PM2,PM4" "Germline" "" "" "0" "" "" "g.106328102_106328104delinsGG" "" "pathogenic" "ACMG" "0000976052" "0" "30" "4" "107154085" "107154085" "subst" "0" "01804" "AIMP1_000040" "g.107154085C>T" "" "" "" "TBCK(NM_001163435.3):c.1639+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976053" "0" "30" "4" "107157542" "107157542" "del" "0" "01804" "AIMP1_000041" "g.107157542del" "" "" "" "TBCK(NM_001163435.3):c.1350+6del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976054" "0" "50" "4" "107181631" "107181631" "subst" "9.08678E-6" "01804" "AIMP1_000037" "g.107181631T>C" "" "" "" "TBCK(NM_001163435.3):c.418A>G (p.(Met140Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976055" "0" "50" "4" "107229957" "107229957" "subst" "4.06623E-6" "01804" "AIMP1_000042" "g.107229957C>T" "" "" "" "TBCK(NM_001163435.3):c.161G>A (p.(Cys54Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976056" "0" "50" "4" "107249280" "107249280" "subst" "2.03287E-5" "01804" "AIMP1_000043" "g.107249280A>G" "" "" "" "AIMP1(NM_001142416.2):c.271A>G (p.(Met91Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993997" "0" "70" "4" "107037515" "107037515" "del" "0" "01804" "AIMP1_000044" "g.107037515del" "" "" "" "TBCK(NM_001163435.1):c.2258delA (p.(Asn753fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000993998" "0" "90" "4" "107168423" "107168426" "del" "0" "01804" "TBCK_000002" "g.107168423_107168426del" "" "" "" "TBCK(NM_001163435.1):c.803_806delTGAA (p.(Met268fs)), TBCK(NM_001290768.2):c.287_290delTGAA (p.M96Rfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034242" "0" "30" "4" "107016790" "107016790" "subst" "0.000155527" "01804" "AIMP1_000045" "g.107016790C>G" "" "" "" "TBCK(NM_001163435.3):c.2420G>C (p.(Arg807Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034243" "0" "30" "4" "107114937" "107114937" "subst" "0.000237773" "02326" "TBCK_000014" "g.107114937G>A" "" "" "" "TBCK(NM_001163435.3):c.1898-10C>T, TBCK(NM_001290768.1):c.1382-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034244" "0" "90" "4" "107115887" "107115887" "dup" "0" "02329" "AIMP1_000046" "g.107115887dup" "" "" "" "TBCK(NM_001290768.2):c.1369dupA (p.T457Nfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034245" "0" "30" "4" "107154226" "107154226" "subst" "0" "01804" "AIMP1_000047" "g.107154226T>C" "" "" "" "TBCK(NM_001163435.3):c.1513-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034246" "0" "50" "4" "107173063" "107173063" "subst" "0" "01804" "AIMP1_000048" "g.107173063T>C" "" "" "" "TBCK(NM_001163435.3):c.557A>G (p.(Asp186Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034247" "0" "50" "4" "107268805" "107268805" "subst" "0" "01804" "AIMP1_000049" "g.107268805G>C" "" "" "" "AIMP1(NM_001142416.2):c.895G>C (p.(Gly299Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes AIMP1 ## Count = 111 "{{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}}" "0000055896" "00024016" "70" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Gly299Arg)" "7" "0000055897" "00024016" "70" "527" "0" "527" "0" "c.527T>G" "r.(?)" "p.(Val176Gly)" "5" "0000249418" "00024344" "30" "359" "0" "359" "0" "c.359A>G" "r.(?)" "p.(Glu120Gly)" "" "0000249418" "00024016" "30" "359" "0" "359" "0" "c.359A>G" "r.(?)" "p.(Glu120Gly)" "" "0000259004" "00024344" "10" "-25" "-6" "-25" "-6" "c.-25-6C>A" "r.(=)" "p.(=)" "" "0000259004" "00024016" "10" "-25" "-6" "-25" "-6" "c.-25-6C>A" "r.(=)" "p.(=)" "" "0000260689" "00024344" "90" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Gln112Ter)" "" "0000260689" "00024016" "90" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Gln112Ter)" "" "0000314434" "00024344" "90" "-54267" "0" "-54267" "0" "c.-54267G>A" "r.(?)" "p.(=)" "" "0000314434" "00024016" "90" "-53559" "0" "-53559" "0" "c.-53559G>A" "r.(?)" "p.(=)" "" "0000316278" "00024344" "30" "-122590" "0" "-122590" "0" "c.-122590G>A" "r.(?)" "p.(=)" "" "0000316278" "00024016" "30" "-121882" "0" "-121882" "0" "c.-121882G>A" "r.(?)" "p.(=)" "" "0000344051" "00024344" "50" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Asp282Gly)" "" "0000344051" "00024016" "50" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Asp282Gly)" "" "0000521122" "00024344" "30" "-269778" "0" "-269778" "0" "c.-269778G>A" "r.(?)" "p.(=)" "" "0000521122" "00024016" "30" "-269070" "0" "-269070" "0" "c.-269070G>A" "r.(?)" "p.(=)" "" "0000521123" "00024344" "30" "-200115" "0" "-200115" "0" "c.-200115T>A" "r.(?)" "p.(=)" "" "0000521123" "00024016" "30" "-199407" "0" "-199407" "0" "c.-199407T>A" "r.(?)" "p.(=)" "" "0000521124" "00024344" "90" "-83428" "0" "-83428" "0" "c.-83428C>T" "r.(?)" "p.(=)" "" "0000521124" "00024016" "90" "-82720" "0" "-82720" "0" "c.-82720C>T" "r.(?)" "p.(=)" "" "0000521125" "00024344" "90" "-83428" "0" "-83428" "0" "c.-83428C>T" "r.(?)" "p.(=)" "" "0000521125" "00024016" "90" "-82720" "0" "-82720" "0" "c.-82720C>T" "r.(?)" "p.(=)" "" "0000521127" "00024344" "90" "-69104" "0" "-69103" "0" "c.-69104_-69103insTTCA" "r.(?)" "p.(=)" "" "0000521127" "00024016" "90" "-68396" "0" "-68395" "0" "c.-68396_-68395insTTCA" "r.(?)" "p.(=)" "" "0000521129" "00024344" "90" "-54267" "0" "-54267" "0" "c.-54267G>A" "r.(?)" "p.(=)" "" "0000521129" "00024016" "90" "-53559" "0" "-53559" "0" "c.-53559G>A" "r.(?)" "p.(=)" "" "0000521130" "00024344" "30" "-15" "0" "-15" "0" "c.-15C>T" "r.(?)" "p.(=)" "" "0000521130" "00024016" "30" "-15" "0" "-15" "0" "c.-15C>T" "r.(?)" "p.(=)" "" "0000521131" "00024344" "50" "125" "0" "125" "0" "c.125T>C" "r.(?)" "p.(Leu42Ser)" "" "0000521131" "00024016" "50" "125" "0" "125" "0" "c.125T>C" "r.(?)" "p.(Leu42Ser)" "" "0000521132" "00024344" "90" "349" "0" "349" "0" "c.349del" "r.(?)" "p.(Thr117GlnfsTer25)" "" "0000521132" "00024016" "90" "349" "0" "349" "0" "c.349del" "r.(?)" "p.(Thr117GlnfsTer25)" "" "0000521133" "00024344" "30" "604" "-10" "604" "-10" "c.604-10T>C" "r.(=)" "p.(=)" "" "0000521133" "00024016" "30" "604" "-10" "604" "-10" "c.604-10T>C" "r.(=)" "p.(=)" "" "0000608964" "00024344" "30" "-69133" "0" "-69133" "0" "c.-69133G>A" "r.(?)" "p.(=)" "" "0000608964" "00024016" "30" "-68425" "0" "-68425" "0" "c.-68425G>A" "r.(?)" "p.(=)" "" "0000608965" "00024344" "50" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Pro198Ser)" "" "0000608965" "00024016" "50" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Pro198Ser)" "" "0000621334" "00024344" "30" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49Gln)" "" "0000621334" "00024016" "30" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49Gln)" "" "0000677144" "00024344" "70" "-69104" "0" "-69101" "0" "c.-69104_-69101del" "r.(?)" "p.(=)" "" "0000677144" "00024016" "70" "-68396" "0" "-68393" "0" "c.-68396_-68393del" "r.(?)" "p.(=)" "" "0000689187" "00024344" "30" "-79905" "0" "-79905" "0" "c.-79905C>T" "r.(?)" "p.(=)" "" "0000689187" "00024016" "30" "-79197" "0" "-79197" "0" "c.-79197C>T" "r.(?)" "p.(=)" "" "0000719679" "00024344" "30" "-220905" "0" "-220905" "0" "c.-220905T>A" "r.(?)" "p.(=)" "" "0000719679" "00024016" "30" "-220197" "0" "-220197" "0" "c.-220197T>A" "r.(?)" "p.(=)" "" "0000719680" "00024344" "30" "-84610" "0" "-84610" "0" "c.-84610A>T" "r.(?)" "p.(=)" "" "0000719680" "00024016" "30" "-83902" "0" "-83902" "0" "c.-83902A>T" "r.(?)" "p.(=)" "" "0000719681" "00024344" "30" "-83401" "0" "-83401" "0" "c.-83401T>C" "r.(?)" "p.(=)" "" "0000719681" "00024016" "30" "-82693" "0" "-82693" "0" "c.-82693T>C" "r.(?)" "p.(=)" "" "0000719682" "00024344" "50" "-73860" "0" "-73860" "0" "c.-73860T>A" "r.(?)" "p.(=)" "" "0000719682" "00024016" "50" "-73152" "0" "-73152" "0" "c.-73152T>A" "r.(?)" "p.(=)" "" "0000719683" "00024344" "30" "-73852" "0" "-73852" "0" "c.-73852C>A" "r.(?)" "p.(=)" "" "0000719683" "00024016" "30" "-73144" "0" "-73144" "0" "c.-73144C>A" "r.(?)" "p.(=)" "" "0000719684" "00024344" "50" "-71648" "0" "-71648" "0" "c.-71648A>G" "r.(?)" "p.(=)" "" "0000719684" "00024016" "50" "-70940" "0" "-70940" "0" "c.-70940A>G" "r.(?)" "p.(=)" "" "0000719685" "00024344" "50" "-71615" "0" "-71615" "0" "c.-71615T>C" "r.(?)" "p.(=)" "" "0000719685" "00024016" "50" "-70907" "0" "-70907" "0" "c.-70907T>C" "r.(?)" "p.(=)" "" "0000719686" "00024344" "50" "338" "0" "338" "0" "c.338dup" "r.(?)" "p.(Gly115Argfs*14)" "" "0000719686" "00024016" "50" "338" "0" "338" "0" "c.338dup" "r.(?)" "p.(Gly115Argfs*14)" "" "0000801444" "00024344" "90" "-83428" "0" "-83428" "0" "c.-83428C>T" "r.(?)" "p.(=)" "" "0000801444" "00024016" "90" "-82720" "0" "-82720" "0" "c.-82720C>T" "r.(?)" "p.(=)" "" "0000817737" "00024016" "70" "527" "0" "527" "0" "c.527T>G" "r.(?)" "p.(Val176Gly)" "" "0000850472" "00024344" "30" "-269677" "0" "-269677" "0" "c.-269677dup" "r.(?)" "p.(=)" "" "0000850472" "00024016" "30" "-268969" "0" "-268969" "0" "c.-268969dup" "r.(?)" "p.(=)" "" "0000850473" "00024344" "50" "-145226" "0" "-145226" "0" "c.-145226G>C" "r.(?)" "p.(=)" "" "0000850473" "00024016" "50" "-144518" "0" "-144518" "0" "c.-144518G>C" "r.(?)" "p.(=)" "" "0000850474" "00024344" "70" "-122673" "0" "-122673" "0" "c.-122673dup" "r.(?)" "p.(=)" "" "0000850474" "00024016" "70" "-121965" "0" "-121965" "0" "c.-121965dup" "r.(?)" "p.(=)" "" "0000850475" "00024344" "50" "-67417" "0" "-67417" "0" "c.-67417C>T" "r.(?)" "p.(=)" "" "0000850475" "00024016" "50" "-66709" "0" "-66709" "0" "c.-66709C>T" "r.(?)" "p.(=)" "" "0000859201" "00024344" "30" "-79965" "0" "-79965" "0" "c.-79965G>A" "r.(?)" "p.(=)" "" "0000859201" "00024016" "30" "-79257" "0" "-79257" "0" "c.-79257G>A" "r.(?)" "p.(=)" "" "0000886075" "00024344" "70" "-55858" "0" "-55858" "0" "c.-55858T>C" "r.(?)" "p.(=)" "" "0000886075" "00024016" "70" "-55150" "0" "-55150" "0" "c.-55150T>C" "r.(?)" "p.(=)" "" "0000912023" "00024344" "50" "-200167" "0" "-200167" "0" "c.-200167T>C" "r.(?)" "p.(=)" "" "0000912023" "00024016" "50" "-199459" "0" "-199459" "0" "c.-199459T>C" "r.(?)" "p.(=)" "" "0000912024" "00024344" "70" "-68079" "0" "-68078" "0" "c.-68079_-68078del" "r.(?)" "p.(=)" "" "0000912024" "00024016" "70" "-67371" "0" "-67370" "0" "c.-67371_-67370del" "r.(?)" "p.(=)" "" "0000912025" "00024344" "50" "-55896" "0" "-55896" "0" "c.-55896T>C" "r.(?)" "p.(=)" "" "0000912025" "00024016" "50" "-55188" "0" "-55188" "0" "c.-55188T>C" "r.(?)" "p.(=)" "" "0000912026" "00024344" "70" "-54204" "0" "-54204" "0" "c.-54204G>A" "r.(?)" "p.(=)" "" "0000912026" "00024016" "70" "-53496" "0" "-53496" "0" "c.-53496G>A" "r.(?)" "p.(=)" "" "0000935896" "00024344" "90" "250" "0" "252" "0" "c.250_252delinsGG" "r.(?)" "p.(Thr84Glyfs*13)" "" "0000935896" "00024016" "90" "250" "0" "252" "0" "c.250_252delinsGG" "r.(?)" "p.(Thr84Glyfs*13)" "" "0000976052" "00024344" "30" "-83442" "0" "-83442" "0" "c.-83442C>T" "r.(?)" "p.(=)" "" "0000976052" "00024016" "30" "-82734" "0" "-82734" "0" "c.-82734C>T" "r.(?)" "p.(=)" "" "0000976053" "00024344" "30" "-79985" "0" "-79985" "0" "c.-79985del" "r.(?)" "p.(=)" "" "0000976053" "00024016" "30" "-79277" "0" "-79277" "0" "c.-79277del" "r.(?)" "p.(=)" "" "0000976054" "00024344" "50" "-55896" "0" "-55896" "0" "c.-55896T>C" "r.(?)" "p.(=)" "" "0000976054" "00024016" "50" "-55188" "0" "-55188" "0" "c.-55188T>C" "r.(?)" "p.(=)" "" "0000976055" "00024344" "50" "-7570" "0" "-7570" "0" "c.-7570C>T" "r.(?)" "p.(=)" "" "0000976055" "00024016" "50" "-6862" "0" "-6862" "0" "c.-6862C>T" "r.(?)" "p.(=)" "" "0000976056" "00024344" "50" "271" "0" "271" "0" "c.271A>G" "r.(?)" "p.(Met91Val)" "" "0000976056" "00024016" "50" "271" "0" "271" "0" "c.271A>G" "r.(?)" "p.(Met91Val)" "" "0000993997" "00024344" "70" "-200012" "0" "-200012" "0" "c.-200012del" "r.(?)" "p.(=)" "" "0000993997" "00024016" "70" "-199304" "0" "-199304" "0" "c.-199304del" "r.(?)" "p.(=)" "" "0000993998" "00024344" "90" "-69104" "0" "-69101" "0" "c.-69104_-69101del" "r.(?)" "p.(=)" "" "0000993998" "00024016" "90" "-68396" "0" "-68393" "0" "c.-68396_-68393del" "r.(?)" "p.(=)" "" "0001034242" "00024344" "30" "-220737" "0" "-220737" "0" "c.-220737C>G" "r.(?)" "p.(=)" "" "0001034242" "00024016" "30" "-220029" "0" "-220029" "0" "c.-220029C>G" "r.(?)" "p.(=)" "" "0001034243" "00024344" "30" "-122590" "0" "-122590" "0" "c.-122590G>A" "r.(?)" "p.(=)" "" "0001034243" "00024016" "30" "-121882" "0" "-121882" "0" "c.-121882G>A" "r.(?)" "p.(=)" "" "0001034244" "00024344" "90" "-121640" "0" "-121640" "0" "c.-121640dup" "r.(?)" "p.(=)" "" "0001034244" "00024016" "90" "-120932" "0" "-120932" "0" "c.-120932dup" "r.(?)" "p.(=)" "" "0001034245" "00024344" "30" "-83301" "0" "-83301" "0" "c.-83301T>C" "r.(?)" "p.(=)" "" "0001034245" "00024016" "30" "-82593" "0" "-82593" "0" "c.-82593T>C" "r.(?)" "p.(=)" "" "0001034246" "00024344" "50" "-64464" "0" "-64464" "0" "c.-64464T>C" "r.(?)" "p.(=)" "" "0001034246" "00024016" "50" "-63756" "0" "-63756" "0" "c.-63756T>C" "r.(?)" "p.(=)" "" "0001034247" "00024344" "50" "895" "0" "895" "0" "c.895G>C" "r.(?)" "p.(Gly299Arg)" "" "0001034247" "00024016" "50" "895" "0" "895" "0" "c.895G>C" "r.(?)" "p.(Gly299Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000029810" "0000055896" "0000029811" "0000055897" "0000388944" "0000817737" "0000439767" "0000935896"