### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AGK) # 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}}" "AGK" "acylglycerol kinase" "7" "q34" "unknown" "NC_000007.13" "UD_136085473085" "" "" "" "1" "1" "21869" "55750" "610345" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com" "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "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}}" "00000023" "AGK" "acylglycerol kinase" "001" "NM_018238.3" "" "NP_060708.1" "" "" "" "-171" "2754" "1269" "141251078" "141354209" "00001" "2013-11-07 13:44:35" "" "" "" "7" ## 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}}" "00403" "212350" "SENGERS SYNDROME" "212350" "" "" "" "00001" "2014-04-08 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AGK" "00403" ## 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 = 62 "{{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}}" "0000001245" "0" "99" "7" "141315364" "141315364" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-08-18 03:14:22" "AGK_000001" "g.141315364C>T" "" "{PMID:22284826:22284826}" "" "rs387907024" "subst" "0" "; clinVar;" "5.200" "" "" "" "" "MSCV_0001245" "" "0000001246" "0" "99" "7" "141341162" "141341162" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-09-12 06:11:11" "AGK_000002" "g.141341162C>T" "" "{PMID:22284826:22284826}" "" "rs387907025" "subst" "0" "; clinVar;" "5.510" "" "" "" "" "MSCV_0001246" "" "0000022281" "0" "55" "7" "141251087" "141251087" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 17:26:34" "AGK_000050" "g.141251087G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022281" "" "0000022282" "0" "55" "7" "141251110" "141251110" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 17:20:32" "AGK_000051" "g.141251110G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022282" "" "0000022283" "0" "55" "7" "141251149" "141251149" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 16:24:32" "AGK_000052" "g.141251149G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022283" "" "0000022284" "0" "55" "7" "141251161" "141251161" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-08-12 16:33:52" "AGK_000053" "g.141251161G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022284" "" "0000022285" "0" "55" "7" "141251174" "141251174" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:04:02" "AGK_000003" "g.141251174G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022285" "" "0000022286" "0" "55" "7" "141251213" "141251213" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 17:54:50" "AGK_000054" "g.141251213G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022286" "" "0000022287" "0" "99" "7" "141255269" "141255269" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 16:46:57" "AGK_000055" "g.141255269G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022287" "" "0000022288" "0" "33" "7" "141255283" "141255283" "subst" "35" "0.00261418" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:04:06" "AGK_000056" "g.141255283A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022288" "" "0000022289" "0" "11" "7" "141255372" "141255372" "subst" "35" "0.00253729" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:04:07" "AGK_000057" "g.141255372C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022289" "" "0000022290" "0" "99" "7" "141292987" "141292987" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 17:00:08" "AGK_000058" "g.141292987T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022290" "" "0000022291" "0" "55" "7" "141301040" "141301040" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:31" "AGK_000046" "g.141301040C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022291" "" "0000022292" "0" "99" "7" "141310993" "141310993" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:32" "AGK_000047" "g.141310993A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022292" "" "0000022293" "0" "99" "7" "141311003" "141311003" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-02 13:28:40" "AGK_000048" "g.141311003T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022293" "" "0000022294" "0" "77" "7" "141311088" "141311088" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:35" "AGK_000049" "g.141311088G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022294" "" "0000022295" "0" "99" "7" "141313964" "141313964" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 16:48:58" "AGK_000024" "g.141313964C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022295" "" "0000022296" "0" "33" "7" "141313971" "141313971" "subst" "35" "0.00146402" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:08" "AGK_000025" "g.141313971C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022296" "" "0000022297" "0" "77" "7" "141315260" "141315260" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 18:46:43" "AGK_000026" "g.141315260T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022297" "" "0000022298" "0" "77" "7" "141315266" "141315266" "subst" "35" "0.0024604" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:11" "AGK_000027" "g.141315266C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022298" "" "0000022299" "0" "77" "7" "141315267" "141315267" "subst" "35" "0.00469014" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-28 13:17:03" "AGK_000028" "g.141315267C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022299" "" "0000022300" "0" "99" "7" "141315268" "141315268" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 16:39:49" "AGK_000029" "g.141315268C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022300" "" "0000022301" "0" "99" "7" "141315364" "141315364" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-28 04:55:29" "AGK_000001" "g.141315364C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001245" "" "0000022302" "0" "55" "7" "141333749" "141333749" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 16:30:35" "AGK_000030" "g.141333749T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022302" "" "0000022303" "0" "99" "7" "141336763" "141336763" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-28 18:12:12" "AGK_000031" "g.141336763C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022303" "" "0000022304" "0" "55" "7" "141341064" "141341064" "subst" "35" "0.000538213" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:33" "AGK_000032" "g.141341064A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022304" "" "0000022305" "0" "55" "7" "141341084" "141341084" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 17:36:41" "AGK_000033" "g.141341084A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022305" "" "0000022306" "0" "55" "7" "141341124" "141341124" "subst" "51" "0.00115331" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-28 04:55:29" "AGK_000034" "g.141341124C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022306" "" "0000022307" "0" "77" "7" "141341125" "141341125" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 18:12:01" "AGK_000035" "g.141341125C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022307" "" "0000022308" "0" "99" "7" "141341162" "141341162" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-28 04:55:29" "AGK_000002" "g.141341162C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001246" "" "0000022309" "0" "77" "7" "141341184" "141341184" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:44" "AGK_000036" "g.141341184C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022309" "" "0000022310" "0" "77" "7" "141341212" "141341212" "subst" "35" "0.000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:46" "AGK_000037" "g.141341212C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022310" "" "0000022311" "0" "55" "7" "141341696" "141341696" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:47" "AGK_000038" "g.141341696G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022311" "" "0000022312" "0" "99" "7" "141341709" "141341709" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:48" "AGK_000039" "g.141341709G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022312" "" "0000022313" "0" "55" "7" "141351330" "141351330" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 18:03:54" "AGK_000040" "g.141351330G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022313" "" "0000022314" "0" "55" "7" "141351366" "141351366" "subst" "35" "0.000538213" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:51" "AGK_000041" "g.141351366C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022314" "" "0000022315" "0" "55" "7" "141351376" "141351376" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:52" "AGK_000042" "g.141351376C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022315" "" "0000022316" "0" "99" "7" "141352625" "141352625" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:54" "AGK_000043" "g.141352625T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022316" "" "0000022317" "0" "77" "7" "141352666" "141352692" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:55" "AGK_000044" "g.141352666_141352692del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022317" "" "0000022318" "0" "00" "7" "141352805" "141352806" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 19:23:29" "AGK_000045" "g.141352805_141352806del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022318" "" "0000022319" "0" "33" "7" "141352865" "141352865" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-10 08:13:03" "AGK_000005" "g.141352865C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022319" "" "0000022320" "0" "55" "7" "141352989" "141352989" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:24" "AGK_000006" "g.141352989G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022320" "" "0000022321" "0" "33" "7" "141353043" "141353043" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:26" "AGK_000007" "g.141353043del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022321" "" "0000022322" "0" "33" "7" "141353044" "141353044" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:27" "AGK_000008" "g.141353044G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022322" "" "0000022323" "0" "00" "7" "141353077" "141353079" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-28 04:55:29" "AGK_000009" "g.141353077_141353079del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022323" "" "0000022324" "0" "55" "7" "141353089" "141353089" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 16:53:03" "AGK_000010" "g.141353089G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022324" "" "0000022325" "0" "00" "7" "141353185" "141353186" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:31" "AGK_000011" "g.141353185_141353186insTGTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022325" "" "0000022326" "0" "55" "7" "141353657" "141353657" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 17:46:49" "AGK_000012" "g.141353657C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022326" "" "0000022327" "0" "55" "7" "141353691" "141353691" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-23 11:37:28" "AGK_000013" "g.141353691T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022327" "" "0000022328" "0" "55" "7" "141353716" "141353716" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 17:14:31" "AGK_000014" "g.141353716G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022328" "" "0000022329" "0" "55" "7" "141353748" "141353748" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:36" "AGK_000015" "g.141353748C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022329" "" "0000022330" "0" "55" "7" "141353851" "141353851" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 16:17:30" "AGK_000016" "g.141353851C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022330" "" "0000022331" "0" "33" "7" "141353899" "141353899" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-28 04:55:29" "AGK_000017" "g.141353899C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022331" "" "0000022332" "0" "55" "7" "141353934" "141353934" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 18:16:29" "AGK_000018" "g.141353934A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022332" "" "0000022333" "0" "00" "7" "141353956" "141353959" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 17:06:10" "AGK_000019" "g.141353956_141353959del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022333" "" "0000022334" "0" "55" "7" "141353961" "141353961" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:43" "AGK_000020" "g.141353961G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022334" "" "0000022335" "0" "55" "7" "141354025" "141354025" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-28 04:55:29" "AGK_000021" "g.141354025C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022335" "" "0000022336" "0" "00" "7" "141354029" "141354032" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 16:12:27" "AGK_000022" "g.141354029_141354032del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022336" "" "0000022337" "0" "55" "7" "141354043" "141354043" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-09 17:41:45" "AGK_000023" "g.141354043G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022337" "" "0000022338" "0" "00" "7" "141354052" "141354055" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:48" "AGK_000004" "g.141354052_141354055del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022338" "" "0000026637" "0" "00" "7" "141351414" "141351414" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-10 08:21:05" "AGK_000060" "g.141351414G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026638" "0" "00" "7" "141352592" "141352593" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-09 17:09:11" "AGK_000059" "g.141352592_141352593insGG" "" "" "" "" "" "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 = 62 "{{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}}" "0000001245" "00000023" "99" "517" "0" "517" "0" "c.517C>T" "8/16" "p.(Gln173*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000001246" "00000023" "99" "841" "0" "841" "0" "c.841C>T" "12/16" "p.(Arg281*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000022281" "00000023" "00" "-162" "0" "-162" "0" "c.-162G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022282" "00000023" "00" "-139" "0" "-139" "0" "c.-139G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022283" "00000023" "00" "-100" "0" "-100" "0" "c.-100G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022284" "00000023" "00" "-88" "0" "-88" "0" "c.-88G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022285" "00000023" "00" "-75" "0" "-75" "0" "c.-75G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022286" "00000023" "00" "-36" "0" "-36" "0" "c.-36G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022287" "00000023" "00" "3" "0" "3" "0" "c.3G>C" "" "p.?" "r.?" "" "" "" "" "" "-" "0000022288" "00000023" "00" "17" "0" "17" "0" "c.17A>G" "" "p.(Lys6Arg)" "r.(?)" "" "" "" "" "" "-" "0000022289" "00000023" "00" "101" "5" "101" "5" "c.101+5C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022290" "00000023" "00" "141" "2" "141" "2" "c.141+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022291" "00000023" "00" "257" "0" "257" "0" "c.257C>G" "" "p.(Pro86Arg)" "r.(?)" "" "" "" "" "" "-" "0000022292" "00000023" "00" "298" "-2" "298" "-2" "c.298-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022293" "00000023" "00" "306" "0" "306" "0" "c.306T>G" "" "p.(Tyr102*)" "r.(?)" "" "" "" "" "" "-" "0000022294" "00000023" "00" "390" "1" "390" "1" "c.390+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022295" "00000023" "00" "409" "0" "409" "0" "c.409C>T" "" "p.(Arg137*)" "r.(?)" "" "" "" "" "" "-" "0000022296" "00000023" "00" "416" "0" "416" "0" "c.416C>G" "" "p.(Thr139Arg)" "r.(?)" "" "" "" "" "" "-" "0000022297" "00000023" "00" "424" "-11" "424" "-11" "c.424-11T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022298" "00000023" "00" "424" "-5" "424" "-5" "c.424-5C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022299" "00000023" "00" "424" "-4" "424" "-4" "c.424-4C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022300" "00000023" "00" "424" "-3" "424" "-3" "c.424-3C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022301" "00000023" "00" "517" "0" "517" "0" "c.517C>T" "" "p.(Gln173*)" "r.(?)" "" "" "" "" "" "-" "0000022302" "00000023" "00" "637" "0" "637" "0" "c.637T>C" "" "p.(Ser213Pro)" "r.(?)" "" "" "" "" "" "-" "0000022303" "00000023" "00" "672" "0" "672" "0" "c.672C>G" "" "p.(Tyr224*)" "r.(?)" "" "" "" "" "" "-" "0000022304" "00000023" "00" "743" "0" "743" "0" "c.743A>C" "" "p.(His248Pro)" "r.(?)" "" "" "" "" "" "-" "0000022305" "00000023" "00" "763" "0" "763" "0" "c.763A>G" "" "p.(Thr255Ala)" "r.(?)" "" "" "" "" "" "-" "0000022306" "00000023" "00" "803" "0" "803" "0" "c.803C>A" "" "p.(Thr268Asn)" "r.(?)" "" "" "" "" "" "-" "0000022307" "00000023" "00" "804" "0" "804" "0" "c.804C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022308" "00000023" "00" "841" "0" "841" "0" "c.841C>T" "" "p.(Arg281*)" "r.(?)" "" "" "" "" "" "-" "0000022309" "00000023" "00" "863" "0" "863" "0" "c.863C>T" "" "p.(Ala288Val)" "r.(?)" "" "" "" "" "" "-" "0000022310" "00000023" "00" "877" "14" "877" "14" "c.877+14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022311" "00000023" "00" "963" "0" "963" "0" "c.963G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022312" "00000023" "00" "975" "1" "975" "1" "c.975+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022313" "00000023" "00" "1052" "0" "1052" "0" "c.1052G>A" "" "p.(Arg351Gln)" "r.(?)" "" "" "" "" "" "-" "0000022314" "00000023" "00" "1088" "0" "1088" "0" "c.1088C>T" "" "p.(Thr363Met)" "r.(?)" "" "" "" "" "" "-" "0000022315" "00000023" "00" "1098" "0" "1098" "0" "c.1098C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022316" "00000023" "00" "1170" "0" "1170" "0" "c.1170T>G" "" "p.(Tyr390*)" "r.(?)" "" "" "" "" "" "-" "0000022317" "00000023" "00" "1211" "0" "1237" "0" "c.1211_1237del" "" "p.(Leu404_Lys412del)" "r.(?)" "" "" "" "" "" "-" "0000022318" "00000023" "00" "1350" "0" "1351" "0" "c.*81_*82del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022319" "00000023" "00" "1410" "0" "1410" "0" "c.*141C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022320" "00000023" "00" "1534" "0" "1534" "0" "c.*265G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022321" "00000023" "00" "1588" "0" "1588" "0" "c.*319del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022322" "00000023" "00" "1589" "0" "1589" "0" "c.*320G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022323" "00000023" "00" "1622" "0" "1624" "0" "c.*353_*355del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022324" "00000023" "00" "1634" "0" "1634" "0" "c.*365G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022325" "00000023" "00" "1730" "0" "1731" "0" "c.*461_*462insTGTT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022326" "00000023" "00" "2202" "0" "2202" "0" "c.*933C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022327" "00000023" "00" "2236" "0" "2236" "0" "c.*967T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022328" "00000023" "00" "2261" "0" "2261" "0" "c.*992G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022329" "00000023" "00" "2293" "0" "2293" "0" "c.*1024C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022330" "00000023" "00" "2396" "0" "2396" "0" "c.*1127C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022331" "00000023" "00" "2444" "0" "2444" "0" "c.*1175C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022332" "00000023" "00" "2479" "0" "2479" "0" "c.*1210A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022333" "00000023" "00" "2501" "0" "2504" "0" "c.*1232_*1235del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022334" "00000023" "00" "2506" "0" "2506" "0" "c.*1237G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022335" "00000023" "00" "2570" "0" "2570" "0" "c.*1301C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022336" "00000023" "00" "2574" "0" "2577" "0" "c.*1305_*1308del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022337" "00000023" "00" "2588" "0" "2588" "0" "c.*1319G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022338" "00000023" "00" "2597" "0" "2600" "0" "c.*1328_*1331del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026637" "00000023" "00" "1131" "5" "1131" "5" "c.1131+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026638" "00000023" "00" "1137" "0" "1138" "0" "c.1137_1138insGG" "" "" "" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0