### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CARS2) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "CARS2" "cysteinyl-tRNA synthetase 2, mitochondrial (putative)" "13" "q34" "unknown" "NC_000013.10" "UD_132319744589" "" "" "" "1" "1" "25695" "79587" "612800" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "{{iNote}}" "{{chrom}}" "00000593" "CARS2" "cysteinyl-tRNA synthetase 2, mitochondrial (putative)" "001" "NM_024537.2" "" "NP_078813.1" "" "" "" "-40" "1822" "1695" "111358480" "111293757" "00001" "2013-11-12 21:32:44" "" "" "" "13" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00519" "616672" "Combined oxidative phosphorylation deficiency 27, 616672 (3)" "616672" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CARS2" "00519" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 65 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000017318" "0" "33" "13" "111293895" "111293896" "ins" "35" "0.00247643" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:44:14" "CARS2_000051" "g.111293895_111293896insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017318" "" "0000017319" "0" "33" "13" "111293898" "111293898" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:41:58" "CARS2_000047" "g.111293898T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017319" "" "0000017320" "0" "33" "13" "111293947" "111293947" "subst" "35" "0.0024604" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:42:00" "CARS2_000048" "g.111293947G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017320" "" "0000017321" "0" "33" "13" "111293959" "111293960" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:42:01" "CARS2_000049" "g.111293959_111293960insAGA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017321" "" "0000017322" "0" "33" "13" "111294652" "111294652" "subst" "35" "0.000170445" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:42:07" "CARS2_000050" "g.111294652C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017322" "" "0000017323" "0" "33" "13" "111294707" "111294707" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:54" "CARS2_000035" "g.111294707G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017323" "" "0000017324" "0" "55" "13" "111294711" "111294711" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:28:02" "CARS2_000036" "g.111294711G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017324" "" "0000017325" "0" "33" "13" "111294750" "111294750" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-14 03:20:57" "CARS2_000037" "g.111294750C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017325" "" "0000017326" "0" "33" "13" "111294754" "111294754" "subst" "35" "0.000463034" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:28:17" "CARS2_000038" "g.111294754C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017326" "" "0000017327" "0" "33" "13" "111294796" "111294796" "subst" "35" "0.00446291" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:28:25" "CARS2_000039" "g.111294796C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017327" "" "0000017328" "0" "33" "13" "111294854" "111294854" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:28:33" "CARS2_000040" "g.111294854G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017328" "" "0000017329" "0" "55" "13" "111296817" "111296817" "subst" "35" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:28:41" "CARS2_000041" "g.111296817G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017329" "" "0000017330" "0" "11" "13" "111298304" "111298304" "subst" "35" "0.00761187" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:28:49" "CARS2_000042" "g.111298304G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017330" "" "0000017331" "0" "33" "13" "111298365" "111298365" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:28:57" "CARS2_000043" "g.111298365G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017331" "" "0000017332" "0" "11" "13" "111299509" "111299509" "subst" "35" "0.0159926" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:28:59" "CARS2_000044" "g.111299509G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017332" "" "0000017333" "0" "33" "13" "111299513" "111299513" "subst" "51" "0.00407504" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 16:37:27" "CARS2_000045" "g.111299513G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017333" "" "0000017334" "0" "55" "13" "111299523" "111299523" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:52" "CARS2_000010" "g.111299523A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017334" "" "0000017335" "0" "33" "13" "111299567" "111299567" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:54" "CARS2_000011" "g.111299567G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017335" "" "0000017336" "0" "11" "13" "111299582" "111299582" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-18 05:17:24" "CARS2_000012" "g.111299582G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017336" "" "0000017337" "0" "33" "13" "111303373" "111303373" "subst" "35" "0.00530524" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:57" "CARS2_000013" "g.111303373C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017337" "" "0000017338" "0" "55" "13" "111303387" "111303387" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:59" "CARS2_000014" "g.111303387G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017338" "" "0000017339" "0" "33" "13" "111303403" "111303403" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:00" "CARS2_000015" "g.111303403G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017339" "" "0000017340" "0" "33" "13" "111303424" "111303424" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:02" "CARS2_000016" "g.111303424G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017340" "" "0000017341" "0" "55" "13" "111319717" "111319717" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:03" "CARS2_000017" "g.111319717C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017341" "" "0000017342" "0" "55" "13" "111319726" "111319726" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:04" "CARS2_000018" "g.111319726G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017342" "" "0000017343" "0" "33" "13" "111319736" "111319736" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:05" "CARS2_000019" "g.111319736G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017343" "" "0000017344" "0" "33" "13" "111319824" "111319824" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:07" "CARS2_000020" "g.111319824C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017344" "" "0000017345" "0" "99" "13" "111329354" "111329354" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:08" "CARS2_000021" "g.111329354G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017345" "" "0000017346" "0" "55" "13" "111329440" "111329440" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:39" "CARS2_000022" "g.111329440G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017346" "" "0000017347" "0" "77" "13" "111335398" "111335398" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:40" "CARS2_000023" "g.111335398C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017347" "" "0000017348" "0" "99" "13" "111335402" "111335404" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:41" "CARS2_000024" "g.111335402_111335404del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017348" "" "0000017349" "0" "11" "13" "111335406" "111335406" "subst" "35" "0.013686" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:42" "CARS2_000025" "g.111335406C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017349" "" "0000017350" "0" "55" "13" "111335425" "111335425" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:44" "CARS2_000026" "g.111335425C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017350" "" "0000017351" "0" "11" "13" "111335467" "111335467" "subst" "35" "0.000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:45" "CARS2_000027" "g.111335467C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017351" "" "0000017352" "0" "55" "13" "111335479" "111335479" "subst" "35" "0.000922651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:46" "CARS2_000028" "g.111335479T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017352" "" "0000017353" "0" "11" "13" "111335483" "111335484" "del" "35" "0.00942643" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:47" "CARS2_000029" "g.111335483_111335484del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017353" "" "0000017354" "0" "33" "13" "111340075" "111340075" "subst" "35" "0.00230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:49" "CARS2_000030" "g.111340075C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017354" "" "0000017355" "0" "55" "13" "111340076" "111340076" "subst" "35" "0.000615101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:50" "CARS2_000031" "g.111340076G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017355" "" "0000017356" "0" "33" "13" "111340141" "111340141" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:52" "CARS2_000032" "g.111340141G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017356" "" "0000017357" "0" "55" "13" "111340173" "111340173" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:53" "CARS2_000033" "g.111340173C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017357" "" "0000017358" "0" "33" "13" "111353876" "111353876" "subst" "35" "0.000922651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:54" "CARS2_000034" "g.111353876C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017358" "" "0000017359" "0" "55" "13" "111357899" "111357899" "subst" "35" "0.0012302" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:29:02" "CARS2_000046" "g.111357899C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017359" "" "0000017360" "0" "33" "13" "111358207" "111358207" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:32" "CARS2_000001" "g.111358207C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017360" "" "0000017361" "0" "33" "13" "111358291" "111358291" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:34" "CARS2_000002" "g.111358291C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017361" "" "0000017362" "0" "33" "13" "111358319" "111358319" "subst" "35" "0.00075516" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-06 22:00:47" "CARS2_000003" "g.111358319G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017362" "" "0000017363" "0" "55" "13" "111358340" "111358340" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:45" "CARS2_000004" "g.111358340G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017363" "" "0000017364" "0" "55" "13" "111358356" "111358356" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:46" "CARS2_000005" "g.111358356G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017364" "" "0000017365" "0" "11" "13" "111358377" "111358377" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:48" "CARS2_000006" "g.111358377C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017365" "" "0000017366" "0" "33" "13" "111358399" "111358399" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:50" "CARS2_000007" "g.111358399C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017366" "" "0000017367" "0" "33" "13" "111358408" "111358408" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:51" "CARS2_000008" "g.111358408G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017367" "" "0000017368" "0" "33" "13" "111358417" "111358417" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:52:53" "CARS2_000009" "g.111358417T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017368" "" "0000024781" "0" "00" "13" "111293930" "111293930" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:29:58" "CARS2_000065" "g.111293930C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024782" "0" "00" "13" "111294748" "111294748" "subst" "35" "0.0000772439" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:17:56" "CARS2_000064" "g.111294748G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024783" "0" "00" "13" "111294780" "111294780" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:24:20" "CARS2_000060" "g.111294780A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024784" "0" "00" "13" "111294820" "111294820" "subst" "51" "0.0000769231" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-27 15:27:55" "CARS2_000061" "g.111294820C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024785" "0" "00" "13" "111296824" "111296824" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:24:46" "CARS2_000062" "g.111296824C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024786" "0" "00" "13" "111298372" "111298372" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:24:59" "CARS2_000063" "g.111298372A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024787" "0" "00" "13" "111299464" "111299464" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:01:40" "CARS2_000052" "g.111299464C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024788" "0" "00" "13" "111335407" "111335407" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:01:50" "CARS2_000053" "g.111335407C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024789" "0" "00" "13" "111357905" "111357905" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:02:10" "CARS2_000054" "g.111357905G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024790" "0" "00" "13" "111358241" "111358241" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:02:36" "CARS2_000055" "g.111358241A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024791" "0" "00" "13" "111358263" "111358263" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:07" "CARS2_000056" "g.111358263C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024792" "0" "00" "13" "111358286" "111358286" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:17" "CARS2_000057" "g.111358286A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024793" "0" "00" "13" "111358343" "111358343" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:27" "CARS2_000058" "g.111358343G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024794" "0" "00" "13" "111358347" "111358347" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:37" "CARS2_000059" "g.111358347G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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. ## Count = 65 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000017318" "00000593" "00" "1683" "0" "1684" "0" "c.1683_1684insA" "" "p.(Ser562Ilefs*36)" "r.(?)" "" "" "" "" "" "-" "0000017319" "00000593" "00" "1681" "0" "1681" "0" "c.1681A>G" "" "p.(Lys561Glu)" "r.(?)" "" "" "" "" "" "-" "0000017320" "00000593" "00" "1632" "0" "1632" "0" "c.1632C>A" "" "p.(Ser544Arg)" "r.(?)" "" "" "" "" "" "-" "0000017321" "00000593" "00" "1624" "-5" "1624" "-4" "c.1624-5_1624-4insTCT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017322" "00000593" "00" "1623" "10" "1623" "10" "c.1623+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017323" "00000593" "00" "1578" "0" "1578" "0" "c.1578C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017324" "00000593" "00" "1574" "0" "1574" "0" "c.1574C>T" "" "p.(Ala525Val)" "r.(?)" "" "" "" "" "" "-" "0000017325" "00000593" "00" "1535" "0" "1535" "0" "c.1535G>A" "" "p.(Arg512Gln)" "r.(?)" "" "" "" "" "" "-" "0000017326" "00000593" "00" "1531" "0" "1531" "0" "c.1531G>A" "" "p.(Ala511Thr)" "r.(?)" "" "" "" "" "" "-" "0000017327" "00000593" "00" "1489" "0" "1489" "0" "c.1489G>A" "" "p.(Val497Ile)" "r.(?)" "" "" "" "" "" "-" "0000017328" "00000593" "00" "1431" "0" "1431" "0" "c.1431C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017329" "00000593" "00" "1331" "0" "1331" "0" "c.1331C>T" "" "p.(Pro444Leu)" "r.(?)" "" "" "" "" "" "-" "0000017330" "00000593" "00" "1317" "10" "1317" "10" "c.1317+10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017331" "00000593" "00" "1266" "0" "1266" "0" "c.1266C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017332" "00000593" "00" "1132" "0" "1132" "0" "c.1132C>T" "" "p.(Arg378Cys)" "r.(?)" "" "" "" "" "" "-" "0000017333" "00000593" "00" "1128" "0" "1128" "0" "c.1128C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017334" "00000593" "00" "1118" "0" "1118" "0" "c.1118T>C" "" "p.(Phe373Ser)" "r.(?)" "" "" "" "" "" "-" "0000017335" "00000593" "00" "1074" "0" "1074" "0" "c.1074C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017336" "00000593" "00" "1059" "0" "1059" "0" "c.1059C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017337" "00000593" "00" "1054" "8" "1054" "8" "c.1054+8G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017338" "00000593" "00" "1048" "0" "1048" "0" "c.1048C>G" "" "p.(Arg350Gly)" "r.(?)" "" "" "" "" "" "-" "0000017339" "00000593" "00" "1032" "0" "1032" "0" "c.1032C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017340" "00000593" "00" "1011" "0" "1011" "0" "c.1011C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017341" "00000593" "00" "889" "0" "889" "0" "c.889G>A" "" "p.(Glu297Lys)" "r.(?)" "" "" "" "" "" "-" "0000017342" "00000593" "00" "880" "0" "880" "0" "c.880C>T" "" "p.(His294Tyr)" "r.(?)" "" "" "" "" "" "-" "0000017343" "00000593" "00" "870" "0" "870" "0" "c.870C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017344" "00000593" "00" "786" "-4" "786" "-4" "c.786-4G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017345" "00000593" "00" "752" "0" "752" "0" "c.752C>T" "" "p.(Pro251Leu)" "r.(?)" "" "" "" "" "" "-" "0000017346" "00000593" "00" "666" "0" "666" "0" "c.666C>G" "" "p.(Asp222Glu)" "r.(?)" "" "" "" "" "" "-" "0000017347" "00000593" "00" "655" "0" "655" "0" "c.655G>A" "" "p.(Ala219Thr)" "r.(?)" "" "" "" "" "" "-" "0000017348" "00000593" "00" "649" "0" "651" "0" "c.649_651del" "" "p.(Glu217del)" "r.(?)" "" "" "" "" "" "-" "0000017349" "00000593" "00" "647" "0" "647" "0" "c.647G>A" "" "p.(Gly216Glu)" "r.(?)" "" "" "" "" "" "-" "0000017350" "00000593" "00" "628" "0" "628" "0" "c.628G>A" "" "p.(Val210Met)" "r.(?)" "" "" "" "" "" "-" "0000017351" "00000593" "00" "586" "0" "586" "0" "c.586G>A" "" "p.(Asp196Asn)" "r.(?)" "" "" "" "" "" "-" "0000017352" "00000593" "00" "574" "0" "574" "0" "c.574A>G" "" "p.(Asn192Asp)" "r.(?)" "" "" "" "" "" "-" "0000017353" "00000593" "00" "572" "-3" "572" "-2" "c.572-3_572-2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017354" "00000593" "00" "564" "0" "564" "0" "c.564G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017355" "00000593" "00" "563" "0" "563" "0" "c.563C>T" "" "p.(Thr188Met)" "r.(?)" "" "" "" "" "" "-" "0000017356" "00000593" "00" "498" "0" "498" "0" "c.498C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017357" "00000593" "00" "466" "0" "466" "0" "c.466G>T" "" "p.(Val156Phe)" "r.(?)" "" "" "" "" "" "-" "0000017358" "00000593" "00" "302" "0" "302" "0" "c.302G>A" "" "p.(Arg101Gln)" "r.(?)" "" "" "" "" "" "-" "0000017359" "00000593" "00" "244" "0" "244" "0" "c.244G>A" "" "p.(Val82Ile)" "r.(?)" "" "" "" "" "" "-" "0000017360" "00000593" "00" "224" "10" "224" "10" "c.224+10G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017361" "00000593" "00" "150" "0" "150" "0" "c.150G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017362" "00000593" "00" "122" "0" "122" "0" "c.122C>T" "" "p.(Ala41Val)" "r.(?)" "" "" "" "" "" "-" "0000017363" "00000593" "00" "101" "0" "101" "0" "c.101C>G" "" "p.(Ala34Gly)" "r.(?)" "" "" "" "" "" "-" "0000017364" "00000593" "00" "85" "0" "85" "0" "c.85C>T" "" "p.(Pro29Ser)" "r.(?)" "" "" "" "" "" "-" "0000017365" "00000593" "00" "64" "0" "64" "0" "c.64G>A" "" "p.(Gly22Arg)" "r.(?)" "" "" "" "" "" "-" "0000017366" "00000593" "00" "42" "0" "42" "0" "c.42G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017367" "00000593" "00" "33" "0" "33" "0" "c.33C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017368" "00000593" "00" "24" "0" "24" "0" "c.24A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024781" "00000593" "00" "1649" "0" "1649" "0" "c.1649G>A" "" "p.(Trp550*)" "r.(?)" "" "" "" "" "" "-" "0000024782" "00000593" "00" "1537" "0" "1537" "0" "c.1537C>T" "" "p.(Arg513Trp)" "r.(?)" "" "" "" "" "" "-" "0000024783" "00000593" "00" "1505" "0" "1505" "0" "c.1505T>C" "" "p.(Leu502Pro)" "r.(?)" "" "" "" "" "" "-" "0000024784" "00000593" "00" "1465" "0" "1465" "0" "c.1465G>A" "" "p.(Glu489Lys)" "r.(?)" "" "" "" "" "" "-" "0000024785" "00000593" "00" "1324" "0" "1324" "0" "c.1324G>C" "" "p.(Glu442Gln)" "r.(?)" "" "" "" "" "" "-" "0000024786" "00000593" "00" "1259" "0" "1259" "0" "c.1259T>C" "" "p.(Val420Ala)" "r.(?)" "" "" "" "" "" "-" "0000024787" "00000593" "00" "1177" "0" "1177" "0" "c.1177G>A" "" "p.(Ala393Thr)" "r.(?)" "" "" "" "" "" "-" "0000024788" "00000593" "00" "646" "0" "646" "0" "c.646G>A" "" "p.(Gly216Arg)" "r.(?)" "" "" "" "" "" "-" "0000024789" "00000593" "00" "238" "0" "238" "0" "c.238C>A" "" "p.(Pro80Thr)" "r.(?)" "" "" "" "" "" "-" "0000024790" "00000593" "00" "200" "0" "200" "0" "c.200T>C" "" "p.(Val67Ala)" "r.(?)" "" "" "" "" "" "-" "0000024791" "00000593" "00" "178" "0" "178" "0" "c.178G>C" "" "p.(Gly60Arg)" "r.(?)" "" "" "" "" "" "-" "0000024792" "00000593" "00" "155" "0" "155" "0" "c.155T>G" "" "p.(Val52Gly)" "r.(?)" "" "" "" "" "" "-" "0000024793" "00000593" "00" "98" "0" "98" "0" "c.98C>G" "" "p.(Ala33Gly)" "r.(?)" "" "" "" "" "" "-" "0000024794" "00000593" "00" "94" "0" "94" "0" "c.94C>G" "" "p.(Arg32Gly)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0