### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FARS2) # 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}}" "FARS2" "phenylalanyl-tRNA synthetase 2, mitochondrial" "6" "p25.1" "unknown" "NC_000006.11" "UD_132438270223" "" "http://www.LOVD.nl/FARS2" "" "1" "21062" "10667" "611592" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FARS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2015-10-28 17:49:43" "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}}" "00000456" "FARS2" "phenylalanyl-tRNA synthetase 2, mitochondrial" "001" "NM_006567.3" "" "NP_006558.1" "" "" "" "-331" "1510" "1356" "5261584" "5771816" "00000" "2012-09-13 12:18:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "00847" "COXPD14" "oxidative phosphorylation deficiency, combined, type 14 (COXPD-14)" "AR" "614946" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06696" "SPG77" "Spastic paraplegia 77, autosomal recessive" "AR" "617046" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "FARS2" "00139" "FARS2" "00847" "FARS2" "06696" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00052956" "" "" "" "4" "" "01427" "" "" "rM" "yes" "China" ">30y" "0" "" "" "Chinese" "" "00361570" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG0069" "00387695" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 or more affected individuals" "" "" "" "" "0" "" "" "" "G012" "00414055" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "M" "" "Netherlands" "" "0" "" "" "" "AR3" "00421533" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "207860" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00052956" "00325" "00361570" "00139" "00387695" "00139" "00414055" "00000" "00421533" "06696" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00325, 00847, 01157, 06696 ## Count = 7 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000039681" "00325" "00052956" "01427" "Familial, autosomal recessive" "30y" "Pure HSP phenotype including progressive lower limb spasticity, pyramidal weakness with hyperreflexia, extensor plantar reponses, and scissors gait." "01y" "" "" "" "" "" "" "" "" "0000256975" "00139" "00361570" "00006" "Familial, autosomal recessive" "1y8m" "syndromic; global developmental delay, mitochondrial encephalomyopathy" "" "" "" "" "" "" "" "" "intellectual disability" "0000281263" "00139" "00387695" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly, epilepsy" "" "" "" "" "" "" "" "" "intellectual disability" "0000305956" "00000" "00414055" "03208" "Familial, autosomal recessive" "" "dystonia, progressive bipiramidal syndrome, gait disturbances" "" "" "" "" "" "" "" "" "" "0000312769" "06696" "00421533" "01164" "Familial, autosomal recessive" "02y" "Hypotonia, Motor delay, Lower limb muscle weakness, Impaired pain sensation, Abnormal pyramidal sign, Delayed speech and language development, Joint hypermobility" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000052904" "00052956" "1" "01427" "01427" "2015-10-28 09:38:30" "" "" "arrayCGH;SEQ-NG" "DNA" "blood" "" "0000362798" "00361570" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000388926" "00387695" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000415334" "00414055" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000422844" "00421533" "1" "01164" "01164" "2022-11-07 13:39:39" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000052904" "FARS2" "0000362798" "FARS2" "0000388926" "FARS2" "0000422844" "FARS2" ## 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 = 43 "{{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}}" "0000002403" "3" "50" "6" "5608856" "5608856" "del" "0" "00037" "FARS2_000018" "g.5608856del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608623del" "" "VUS" "" "0000002404" "3" "50" "6" "5609133" "5609133" "dup" "0" "00037" "FARS2_000021" "g.5609133dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608900dup" "" "VUS" "" "0000004276" "0" "50" "6" "5608698" "5608698" "subst" "0" "00037" "FARS2_000016" "g.5608698A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608465A>G" "" "VUS" "" "0000004277" "0" "50" "6" "5608766" "5608766" "subst" "0" "00037" "FARS2_000017" "g.5608766C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608533C>A" "" "VUS" "" "0000004278" "0" "50" "6" "5609272" "5609272" "subst" "0" "00037" "FARS2_000003" "g.5609272T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609039T>C" "" "VUS" "" "0000004279" "0" "50" "6" "5609439" "5609439" "subst" "0" "00037" "FARS2_000005" "g.5609439C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609206C>A" "" "VUS" "" "0000004280" "0" "50" "6" "5609440" "5609440" "subst" "0" "00037" "FARS2_000006" "g.5609440G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609207G>T" "" "VUS" "" "0000004281" "0" "50" "6" "5609481" "5609481" "subst" "0" "00037" "FARS2_000007" "g.5609481T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609248T>A" "" "VUS" "" "0000004282" "0" "50" "6" "5609504" "5609504" "subst" "0" "00037" "FARS2_000008" "g.5609504T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609271T>C" "" "VUS" "" "0000004283" "0" "50" "6" "5609536" "5609536" "subst" "0" "00037" "FARS2_000010" "g.5609536A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609303A>T" "" "VUS" "" "0000004284" "3" "50" "6" "5609666" "5609666" "subst" "0" "00037" "FARS2_000011" "g.5609666A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609433A>T" "" "VUS" "" "0000004285" "0" "50" "6" "5609691" "5609691" "subst" "0" "00037" "FARS2_000001" "g.5609691A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609458A>G" "" "VUS" "" "0000010430" "0" "50" "6" "5608856" "5608856" "del" "0" "00037" "FARS2_000018" "g.5608856del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608623del" "" "VUS" "" "0000010431" "0" "50" "6" "5609133" "5609133" "dup" "0" "00037" "FARS2_000021" "g.5609133dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608900dup" "" "VUS" "" "0000010432" "0" "50" "6" "5610544" "5610544" "dup" "0" "00037" "FARS2_000020" "g.5610544dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5610311dup" "" "VUS" "" "0000012258" "0" "50" "6" "5608571" "5608571" "subst" "0" "00037" "FARS2_000015" "g.5608571C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608338C>G" "" "VUS" "" "0000012259" "0" "50" "6" "5609272" "5609272" "subst" "0" "00037" "FARS2_000003" "g.5609272T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609039T>C" "" "VUS" "" "0000012260" "0" "50" "6" "5609504" "5609504" "subst" "0" "00037" "FARS2_000008" "g.5609504T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609271T>C" "" "VUS" "" "0000012261" "0" "50" "6" "5609666" "5609666" "subst" "0" "00037" "FARS2_000011" "g.5609666A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609433A>T" "" "VUS" "" "0000012262" "0" "50" "6" "5609691" "5609691" "subst" "0" "00037" "FARS2_000001" "g.5609691A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609458A>G" "" "VUS" "" "0000082525" "3" "70" "6" "5369227" "5369227" "subst" "4.06372E-6" "01427" "FARS2_000022" "g.5369227G>T" "" "" "" "g.107644G>T" "" "Germline" "yes" "" "0" "" "" "g.5368994G>T" "" "likely pathogenic" "" "0000248861" "0" "10" "6" "5431340" "5431340" "subst" "0.22133" "02325" "FARS2_000023" "g.5431340A>G" "" "" "" "FARS2(NM_006567.5):c.839A>G (p.N280S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5431107A>G" "" "benign" "" "0000330805" "0" "50" "6" "5369209" "5369209" "subst" "0" "01804" "FARS2_000024" "g.5369209C>T" "" "" "" "FARS2(NM_006567.3):c.406C>T (p.(Pro136Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5368976C>T" "" "VUS" "" "0000529135" "0" "30" "6" "5404899" "5404899" "subst" "0.00410791" "01943" "FARS2_000026" "g.5404899C>T" "" "" "" "FARS2(NM_001318872.1):c.737C>T (p.T246M), FARS2(NM_006567.5):c.737C>T (p.T246M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5404666C>T" "" "likely benign" "" "0000621722" "0" "30" "6" "5369409" "5369409" "subst" "0.00134722" "01943" "FARS2_000027" "g.5369409G>A" "" "" "" "FARS2(NM_001318872.1):c.606G>A (p.K202=), FARS2(NM_001318872.2):c.606G>A (p.K202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5369176G>A" "" "likely benign" "" "0000677811" "0" "50" "6" "5369005" "5369005" "subst" "2.44143E-5" "01943" "FARS2_000028" "g.5369005C>T" "" "" "" "FARS2(NM_001318872.1):c.202C>T (p.R68W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677812" "0" "30" "6" "5369409" "5369409" "subst" "0.00134722" "02326" "FARS2_000027" "g.5369409G>A" "" "" "" "FARS2(NM_001318872.1):c.606G>A (p.K202=), FARS2(NM_001318872.2):c.606G>A (p.K202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689758" "0" "50" "6" "5613418" "5613418" "subst" "0.000134542" "02327" "FARS2_000029" "g.5613418C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763172" "3" "90" "6" "5369234" "5369234" "subst" "0" "00006" "FARS2_000030" "g.5369234A>G" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS1, PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.5369001A>G" "" "pathogenic" "ACMG" "0000802643" "0" "30" "6" "5431320" "5431320" "subst" "4.06382E-5" "01943" "FARS2_000031" "g.5431320T>A" "" "" "" "FARS2(NM_001318872.1):c.819T>A (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817719" "3" "50" "6" "5369392" "5369392" "subst" "3.74227E-5" "00006" "FARS2_000032" "g.5369392G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.5369159G>A" "" "VUS" "ACMG" "0000860447" "0" "30" "6" "5369157" "5369157" "subst" "0" "01943" "FARS2_000033" "g.5369157A>G" "" "" "" "FARS2(NM_001318872.1):c.354A>G (p.P118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873165" "0" "50" "6" "5613418" "5613418" "subst" "0.000134542" "03208" "FARS2_000029" "g.5613418C>T" "" "Pennings et al. 2022, in progress" "" "NM_006567.5:c.1082C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000887346" "0" "30" "6" "5404899" "5404899" "subst" "0.00410791" "02326" "FARS2_000026" "g.5404899C>T" "" "" "" "FARS2(NM_001318872.1):c.737C>T (p.T246M), FARS2(NM_006567.5):c.737C>T (p.T246M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000898093" "11" "90" "6" "5613418" "5613418" "subst" "0.000134542" "01164" "FARS2_000029" "g.5613418C>T" "" "PMID: 35794642, 29126765, 32007496" "" "" "ACMG: PS4, PS3_MOD, PM3, PM2_SUP, PP3" "Germline" "-" "" "" "" "" "" "VCV000214335.15" "pathogenic (recessive)" "ACMG" "0000898094" "21" "90" "6" "5404932" "5404932" "del" "0" "01164" "FARS2_000034" "g.5404932del" "" "" "" "" "ACMG: PVS1, PM3, PM2_SUP" "Germline" "-" "" "0" "" "" "g.5404699del" "" "pathogenic (recessive)" "ACMG" "0000964180" "0" "50" "6" "5369312" "5369312" "subst" "0.000235886" "02325" "FARS2_000035" "g.5369312C>G" "" "" "" "FARS2(NM_006567.5):c.509C>G (p.A170G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977301" "0" "30" "6" "5267676" "5267676" "subst" "0" "01804" "FARS2_000036" "g.5267676A>G" "" "" "" "FARS2(NM_001375257.1):c.-102A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977302" "0" "30" "6" "5267764" "5267764" "subst" "0" "01804" "FARS2_000037" "g.5267764A>T" "" "" "" "FARS2(NM_001375257.1):c.-22+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977306" "0" "50" "6" "5545479" "5545479" "subst" "0.000150376" "01804" "FARS2_000038" "g.5545479A>G" "" "" "" "FARS2(NM_006567.5):c.971A>G (p.(Tyr324Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995818" "0" "30" "6" "5369300" "5369300" "subst" "0.000142291" "01804" "FARS2_000039" "g.5369300C>T" "" "" "" "FARS2(NM_006567.3):c.497C>T (p.(Ala166Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035843" "0" "50" "6" "5265216" "5265218" "dup" "0" "01804" "FARS2_000040" "g.5265216_5265218dup" "" "" "" "FARS2(NM_001374879.1):c.-110-7_-110-5dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035850" "0" "50" "6" "5369212" "5369212" "subst" "4.06326E-6" "01804" "FARS2_000041" "g.5369212A>G" "" "" "" "FARS2(NM_006567.5):c.409A>G (p.(Ser137Gly))" "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 FARS2 ## Count = 43 "{{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}}" "0000002403" "00000456" "50" "1066" "-4546" "1066" "-4546" "c.1066-4546del" "r.(=)" "p.(=)" "" "0000002404" "00000456" "50" "1066" "-4269" "1066" "-4269" "c.1066-4269dup" "r.(=)" "p.(=)" "" "0000004276" "00000456" "50" "1066" "-4704" "1066" "-4704" "c.1066-4704A>G" "r.(=)" "p.(=)" "" "0000004277" "00000456" "50" "1066" "-4636" "1066" "-4636" "c.1066-4636C>A" "r.(=)" "p.(=)" "" "0000004278" "00000456" "50" "1066" "-4130" "1066" "-4130" "c.1066-4130T>C" "r.(=)" "p.(=)" "" "0000004279" "00000456" "50" "1066" "-3963" "1066" "-3963" "c.1066-3963C>A" "r.(=)" "p.(=)" "" "0000004280" "00000456" "50" "1066" "-3962" "1066" "-3962" "c.1066-3962G>T" "r.(=)" "p.(=)" "" "0000004281" "00000456" "50" "1066" "-3921" "1066" "-3921" "c.1066-3921T>A" "r.(=)" "p.(=)" "" "0000004282" "00000456" "50" "1066" "-3898" "1066" "-3898" "c.1066-3898T>C" "r.(=)" "p.(=)" "" "0000004283" "00000456" "50" "1066" "-3866" "1066" "-3866" "c.1066-3866A>T" "r.(=)" "p.(=)" "" "0000004284" "00000456" "50" "1066" "-3736" "1066" "-3736" "c.1066-3736A>T" "r.(=)" "p.(=)" "" "0000004285" "00000456" "50" "1066" "-3711" "1066" "-3711" "c.1066-3711A>G" "r.(=)" "p.(=)" "" "0000010430" "00000456" "50" "1066" "-4546" "1066" "-4546" "c.1066-4546del" "r.(=)" "p.(=)" "" "0000010431" "00000456" "50" "1066" "-4269" "1066" "-4269" "c.1066-4269dup" "r.(=)" "p.(=)" "" "0000010432" "00000456" "50" "1066" "-2858" "1066" "-2858" "c.1066-2858dup" "r.(=)" "p.(=)" "" "0000012258" "00000456" "50" "1066" "-4831" "1066" "-4831" "c.1066-4831C>G" "r.(=)" "p.(=)" "" "0000012259" "00000456" "50" "1066" "-4130" "1066" "-4130" "c.1066-4130T>C" "r.(=)" "p.(=)" "" "0000012260" "00000456" "50" "1066" "-3898" "1066" "-3898" "c.1066-3898T>C" "r.(=)" "p.(=)" "" "0000012261" "00000456" "50" "1066" "-3736" "1066" "-3736" "c.1066-3736A>T" "r.(=)" "p.(=)" "" "0000012262" "00000456" "50" "1066" "-3711" "1066" "-3711" "c.1066-3711A>G" "r.(=)" "p.(=)" "" "0000082525" "00000456" "70" "424" "0" "424" "0" "c.424G>T" "r.(?)" "p.(Asp142Tyr)" "2" "0000248861" "00000456" "10" "839" "0" "839" "0" "c.839A>G" "r.(?)" "p.(Asn280Ser)" "" "0000330805" "00000456" "50" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Pro136Ser)" "" "0000529135" "00000456" "30" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Thr246Met)" "" "0000621722" "00000456" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Lys202=)" "" "0000677811" "00000456" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Trp)" "" "0000677812" "00000456" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Lys202=)" "" "0000689758" "00000456" "50" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Pro361Leu)" "" "0000763172" "00000456" "90" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Tyr144Cys)" "" "0000802643" "00000456" "30" "819" "0" "819" "0" "c.819T>A" "r.(?)" "p.(Pro273=)" "" "0000817719" "00000456" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Met)" "" "0000860447" "00000456" "30" "354" "0" "354" "0" "c.354A>G" "r.(?)" "p.(Pro118=)" "" "0000873165" "00000456" "50" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Pro361Leu)" "" "0000887346" "00000456" "30" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Thr246Met)" "" "0000898093" "00000456" "90" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Pro361Leu)" "" "0000898094" "00000456" "90" "770" "0" "770" "0" "c.770del" "r.(?)" "p.(Asp257Valfs*5)" "" "0000964180" "00000456" "50" "509" "0" "509" "0" "c.509C>G" "r.(?)" "p.(Ala170Gly)" "" "0000977301" "00000456" "30" "-22" "5783" "-22" "5783" "c.-22+5783A>G" "r.(=)" "p.(=)" "" "0000977302" "00000456" "30" "-22" "5871" "-22" "5871" "c.-22+5871A>T" "r.(=)" "p.(=)" "" "0000977306" "00000456" "50" "971" "0" "971" "0" "c.971A>G" "r.(?)" "p.(Tyr324Cys)" "" "0000995818" "00000456" "30" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ala166Val)" "" "0001035843" "00000456" "50" "-22" "3323" "-22" "3325" "c.-22+3323_-22+3325dup" "r.(=)" "p.(=)" "" "0001035850" "00000456" "50" "409" "0" "409" "0" "c.409A>G" "r.(?)" "p.(Ser137Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002403" "0000000209" "0000002404" "0000000209" "0000004276" "0000000209" "0000004277" "0000000209" "0000004278" "0000000209" "0000004279" "0000000209" "0000004280" "0000000209" "0000004281" "0000000209" "0000004282" "0000000209" "0000004283" "0000000209" "0000004284" "0000000209" "0000004285" "0000000210" "0000010430" "0000000210" "0000010431" "0000000210" "0000010432" "0000000210" "0000012258" "0000000210" "0000012259" "0000000210" "0000012260" "0000000210" "0000012261" "0000000210" "0000012262" "0000052904" "0000082525" "0000362798" "0000763172" "0000388926" "0000817719" "0000415334" "0000873165" "0000422844" "0000898093" "0000422844" "0000898094"