### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LMNA) # 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}}" "LMNA" "lamin A/C" "1" "q22" "unknown" "LRG_254" "UD_139506937745" "" "" "" "1" "1" "6636" "4000" "150330" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:54:08" "" "" "00000" "2014-04-18 18:54:08" "" ## 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}}" "00003231" "LMNA" "transcript variant 1" "002" "NM_170707.3" "" "NP_733821.1" "" "" "" "-249" "2978" "1995" "156084461" "156109880" "00000" "2014-04-18 18:54:08" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 58 "{{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}}" "0000001600" "0" "99" "1" "156084725" "156084725" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-08-22 04:27:06" "LMNA_000037" "g.156084725C>T" "" "{PMID:10080180:10080180};{PMID:11138304:11138304};{PMID:20301717:20301717}" "" "rs61046466" "subst" "0" "; clinvar;" "4.810" "" "" "" "" "MSCV_0001600" "" "0000001601" "0" "11" "1" "156084760" "156084760" "subst" "35" "0.00945443" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-20 03:11:04" "LMNA_000038" "g.156084760C>T" "" "{PMID:23757202:23757202}" "" "rs11549668" "subst" "0" "; clinvar;" "2.890" "" "" "" "" "MSCV_0001601" "" "0000001602" "0" "77" "1" "156084863" "156084863" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-18 02:34:21" "LMNA_000039" "g.156084863C>G" "" "" "" "rs397517895" "subst" "0" "; clinvar;" "4.770" "" "" "" "" "MSCV_0001602" "" "0000001603" "0" "99" "1" "156084887" "156084887" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-08-16 14:17:05" "LMNA_000040" "g.156084887C>G" "" "{PMID:12196663:12196663};{PMID:10580070:10580070};{PMID:19768759:19768759};{PMID:23427149:23427149};{PMID:20041886:20041886}" "" "rs28928900" "subst" "0" "; clinvar;" "3.870" "" "" "" "" "MSCV_0001603" "" "0000001604" "0" "99" "1" "156084963" "156084963" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-18 03:07:33" "LMNA_000041" "g.156084963T>G" "" "{PMID:10580070:10580070}" "" "rs28933090" "subst" "0" "; clinvar;" "4.770" "" "" "" "" "MSCV_0001604" "" "0000001605" "0" "77" "1" "156084975" "156084975" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2015-03-20 08:37:30" "LMNA_000042" "g.156084975G>A" "" "" "" "rs59040894" "subst" "0" "; clinvar;" "3.870" "" "" "" "" "MSCV_0001605" "" "0000001606" "0" "77" "1" "156084975" "156084975" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-09-06 18:35:33" "LMNA_000043" "g.156084975G>T" "" "" "" "rs59040894" "subst" "0" "; clinvar;" "3.870" "" "" "" "" "MSCV_0001606" "" "0000001607" "0" "77" "1" "156084998" "156084998" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 11:05:04" "LMNA_000044" "g.156084998A>G" "" "" "" "rs59065411" "subst" "0" "; clinvar;" "4.900" "" "" "" "" "MSCV_0001607" "" "0000001608" "0" "00" "1" "156085057" "156085058" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 09:58:46" "LMNA_000045" "g.156085057_156085058insGA" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0001608" "" "0000001609" "0" "77" "1" "156100478" "156100478" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:57" "LMNA_000046" "g.156100478T>C" "" "" "" "rs61661343" "subst" "0" "; clinvar;" "5.590" "" "" "" "" "MSCV_0001609" "" "0000001610" "0" "77" "1" "156100499" "156100499" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-06-10 12:18:35" "LMNA_000047" "g.156100499A>C" "" "{PMID:20848652:20848652};{PMID:10908904:10908904}" "" "rs58917027" "subst" "0" "; clinvar;" "5.590" "" "" "" "" "MSCV_0001610" "" "0000001611" "0" "99" "1" "156100532" "156100532" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-18 02:15:02" "LMNA_000048" "g.156100532G>A" "" "{PMID:12920062:12920062};{PMID:17334235:17334235};{PMID:18795223:18795223};{PMID:18926329:18926329}" "" "rs28933093" "subst" "0" "; clinvar;" "5.590" "" "" "" "" "MSCV_0001611" "" "0000001612" "0" "77" "1" "156100536" "156100536" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:01" "LMNA_000049" "g.156100536T>C" "" "{PMID:18816602:18816602};{PMID:10662742:10662742}" "" "rs267607594" "subst" "0" "; clinvar;" "5.590" "" "" "" "" "MSCV_0001612" "" "0000001613" "0" "77" "1" "156100565" "156100565" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-06-21 22:02:41" "LMNA_000050" "g.156100565G>C" "" "{PMID:23360689:23360689}" "" "rs397517904" "subst" "0" "; clinvar;" "5.590" "" "" "" "" "MSCV_0001613" "" "0000001614" "0" "77" "1" "156104248" "156104248" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-18 01:02:21" "LMNA_000051" "g.156104248C>T" "" "" "" "rs59026483" "subst" "0" "; clinvar;" "4.440" "" "" "" "" "MSCV_0001614" "" "0000001615" "0" "77" "1" "156104255" "156104255" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:03" "LMNA_000052" "g.156104255A>G" "" "" "" "rs57045855" "subst" "0" "; clinvar;" "5.440" "" "" "" "" "MSCV_0001615" "" "0000001616" "0" "77" "1" "156104255" "156104255" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 10:10:22" "LMNA_000053" "g.156104255A>T" "" "" "" "rs57045855" "subst" "0" "; clinvar;" "5.440" "" "" "" "" "MSCV_0001616" "" "0000001617" "0" "99" "1" "156104265" "156104265" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:04" "LMNA_000054" "g.156104265C>A" "" "{PMID:23644458:23644458};{PMID:10580070:10580070};{PMID:11792810:11792810};{PMID:18035086:18035086};{PMID:11792809:11792809};{PMID:15972724:15972724};{PMID:20301717:20301717}" "" "rs28933091" "subst" "0" "; clinvar;" "5.440" "" "" "" "" "MSCV_0001617" "" "0000001618" "0" "99" "1" "156104265" "156104265" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 06:31:04" "LMNA_000055" "g.156104265C>G" "" "{PMID:23644458:23644458};{PMID:10580070:10580070};{PMID:11792810:11792810};{PMID:18035086:18035086};{PMID:11792809:11792809};{PMID:15972724:15972724};{PMID:20301717:20301717}" "" "rs28933091" "subst" "0" "; clinvar;" "5.440" "" "" "" "" "MSCV_0001618" "" "0000001619" "0" "99" "1" "156104287" "156104287" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:06" "LMNA_000056" "g.156104287G>A" "" "{PMID:18606848:18606848};{PMID:20160190:20160190};{PMID:11561226:11561226};{PMID:20301717:20301717}" "" "rs61195471" "subst" "0" "; clinvar;" "5.440" "" "" "" "" "MSCV_0001619" "" "0000001620" "0" "99" "1" "156104288" "156104288" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:31:43" "LMNA_000057" "g.156104288A>G" "" "{PMID:10580070:10580070};{PMID:11561226:11561226};{PMID:11792809:11792809};{PMID:18606848:18606848}" "" "rs28933092" "subst" "0" "; clinvar;" "5.440" "" "" "" "" "MSCV_0001620" "" "0000001621" "0" "99" "1" "156104288" "156104288" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:48:07" "LMNA_000058" "g.156104288A>T" "" "{PMID:10580070:10580070};{PMID:11561226:11561226};{PMID:11792809:11792809};{PMID:18606848:18606848}" "" "rs28933092" "subst" "0" "; clinvar;" "5.440" "" "" "" "" "MSCV_0001621" "" "0000001622" "0" "77" "1" "156104309" "156104309" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:29" "LMNA_000032" "g.156104309T>G" "" "{PMID:20160190:20160190};{PMID:18585512:18585512}" "" "rs267607572" "subst" "0" "; clinvar;" "5.440" "" "" "" "" "MSCV_0001622" "" "0000001623" "0" "99" "1" "156104600" "156104600" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 06:11:11" "LMNA_000033" "g.156104600T>C" "" "{PMID:20301717:20301717}" "" "rs61295588" "subst" "0" "; clinvar;" "5.270" "" "" "" "" "MSCV_0001623" "" "0000001624" "0" "99" "1" "156104629" "156104629" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:30" "LMNA_000034" "g.156104629C>T" "" "{PMID:18035086:18035086};{PMID:21315846:21315846};{PMID:11561226:11561226};{PMID:19638735:19638735};{PMID:19882644:19882644};{PMID:20301717:20301717}" "" "rs60682848" "subst" "0" "; clinvar;" "5.270" "" "" "" "" "MSCV_0001624" "" "0000001625" "0" "77" "1" "156104656" "156104656" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-18 02:55:01" "LMNA_000035" "g.156104656C>T" "" "{PMID:18585512:18585512}" "" "rs267607573" "subst" "0" "; clinvar;" "5.450" "" "" "" "" "MSCV_0001625" "" "0000001626" "0" "77" "1" "156104705" "156104705" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:31:43" "LMNA_000036" "g.156104705C>T" "" "" "" "rs397517907" "subst" "0" "; clinvar;" "4.540" "" "" "" "" "MSCV_0001626" "" "0000001627" "0" "55" "1" "156104718" "156104718" "del" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:31:43" "LMNA_000009" "g.156104718del" "" "" "" "rs397517908" "del" "0" ";" "3.620" "" "" "" "" "MSCV_0001627" "" "0000001628" "0" "77" "1" "156104737" "156104739" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:46:52" "LMNA_000010" "g.156104737_156104739del" "" "{PMID:11503164:11503164};{PMID:10908904:10908904};{PMID:10939567:10939567}" "" "rs58978449" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001628" "" "0000001629" "0" "77" "1" "156104740" "156104740" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:46:52" "LMNA_000011" "g.156104740G>T" "" "{PMID:11138304:11138304}" "" "rs397517909" "subst" "0" "; clinvar;" "5.580" "" "" "" "" "MSCV_0001629" "" "0000001630" "0" "99" "1" "156104755" "156104755" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:31:43" "LMNA_000012" "g.156104755T>C" "" "{PMID:14684700:14684700};{PMID:18337098:18337098}" "" "rs267607593" "subst" "0" "; clinvar;" "5.580" "" "" "" "" "MSCV_0001630" "" "0000001631" "0" "77" "1" "156105030" "156105030" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:46:54" "LMNA_000013" "g.156105030C>G" "" "" "" "rs397517911" "subst" "0" "; clinvar;" "5.600" "" "" "" "" "MSCV_0001631" "" "0000001632" "0" "77" "1" "156105704" "156105704" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:46:55" "LMNA_000014" "g.156105704G>A" "" "{PMID:11897440:11897440};{PMID:18926329:18926329};{PMID:19318026:19318026}" "" "rs56816490" "subst" "0" "; clinvar;" "5.670" "" "" "" "" "MSCV_0001632" "" "0000001633" "0" "99" "1" "156105713" "156105713" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 16:46:45" "LMNA_000015" "g.156105713del" "" "{PMID:10662742:10662742};{PMID:20301717:20301717}" "" "rs56771886" "del" "0" "; clinvar;" "5.670" "" "" "" "" "MSCV_0001633" "" "0000001634" "0" "99" "1" "156105714" "156105714" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-02-05 06:02:05" "LMNA_000016" "g.156105714del" "" "{PMID:10662742:10662742};{PMID:20301717:20301717}" "" "rs56771886" "del" "0" "; clinvar;" "5.670" "" "" "" "" "MSCV_0001634" "" "0000001635" "0" "99" "1" "156105716" "156105716" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:46:56" "LMNA_000017" "g.156105716C>T" "" "{PMID:16715312:16715312};{PMID:19875404:19875404}" "" "rs267607554" "subst" "0" "; clinvar;" "2.630" "" "" "" "" "MSCV_0001635" "" "0000001636" "0" "77" "1" "156105731" "156105731" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-25 18:40:38" "LMNA_000018" "g.156105731T>A" "" "{PMID:16407522:16407522};{PMID:16585054:16585054}" "" "rs56851164" "subst" "0" "; clinvar;" "3.340" "" "" "" "" "MSCV_0001636" "" "0000001637" "0" "77" "1" "156105747" "156105747" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:31:43" "LMNA_000019" "g.156105747G>A" "" "{PMID:17377071:17377071};{PMID:19875404:19875404}" "" "rs59301204" "subst" "0" "; clinvar;" "5.670" "" "" "" "" "MSCV_0001637" "" "0000001638" "0" "77" "1" "156105747" "156105747" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:46:58" "LMNA_000020" "g.156105747G>C" "" "{PMID:17377071:17377071};{PMID:19875404:19875404}" "" "rs59301204" "subst" "0" "; clinvar;" "5.670" "" "" "" "" "MSCV_0001638" "" "0000001639" "0" "77" "1" "156105758" "156105758" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:46:59" "LMNA_000021" "g.156105758C>T" "" "{PMID:22224630:22224630}" "" "rs386134243" "subst" "0" "; clinvar;" "5.870" "" "" "" "" "MSCV_0001639" "" "0000001640" "0" "77" "1" "156105861" "156105861" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-12-23 20:17:50" "LMNA_000022" "g.156105861T>C" "" "" "" "rs397517886" "subst" "0" "; clinvar;" "4.160" "" "" "" "" "MSCV_0001640" "" "0000001641" "0" "55" "1" "156105866" "156105867" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 10:45:00" "LMNA_000023" "g.156105866_156105867insTGGA" "" "{PMID:18585512:18585512}" "" "rs397517888" "ins" "0" ";" "" "" "" "" "" "MSCV_0001641" "" "0000001642" "0" "77" "1" "156105866" "156105880" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-18 01:35:23" "LMNA_000024" "g.156105866_156105880del" "" "" "" "rs397517887" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001642" "" "0000001643" "0" "77" "1" "156105884" "156105884" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-18 01:12:55" "LMNA_000025" "g.156105884C>T" "" "{PMID:16386954:16386954};{PMID:21840938:21840938};{PMID:10814726:10814726};{PMID:12032588:12032588};{PMID:12920062:12920062};{PMID:16990647:16990647};{PMID:20576434:20576434};{PMID:21632249:21632249};{PMID:16407522:16407522};{PMID:18035086:18035086};{PMID" "" "rs397517889" "subst" "0" "; clinvar;" "5.300" "" "" "" "" "MSCV_0001643" "" "0000001644" "0" "99" "1" "156105885" "156105885" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 06:01:15" "LMNA_000026" "g.156105885G>A" "" "{PMID:12628721:12628721};{PMID:12673789:12673789};{PMID:10814726:10814726};{PMID:12920062:12920062};{PMID:17136397:17136397}" "" "rs61672878" "subst" "0" "; clinvar;" "5.300" "" "" "" "" "MSCV_0001644" "" "0000001645" "0" "99" "1" "156105885" "156105885" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:03" "LMNA_000027" "g.156105885G>T" "" "{PMID:12628721:12628721};{PMID:12673789:12673789};{PMID:10814726:10814726};{PMID:12920062:12920062};{PMID:17136397:17136397}" "" "rs61672878" "subst" "0" "; clinvar;" "5.300" "" "" "" "" "MSCV_0001645" "" "0000001646" "0" "77" "1" "156105901" "156105901" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:47:04" "LMNA_000028" "g.156105901C>T" "" "{PMID:17377071:17377071}" "" "rs57508089" "subst" "0" "; clinvar;" "3.320" "" "" "" "" "MSCV_0001646" "" "0000001647" "0" "11" "1" "156105928" "156105928" "subst" "35" "0.197524" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 08:39:40" "LMNA_000029" "g.156105928G>A" "" "{PMID:23757202:23757202}" "" "rs534807" "subst" "0" "; clinvar;" "-4.320" "" "" "" "" "MSCV_0001647" "" "0000001648" "0" "77" "1" "156106743" "156106743" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-18 00:52:49" "LMNA_000030" "g.156106743G>A" "" "{PMID:22177269:22177269};{PMID:20160190:20160190};{PMID:18646565:18646565};{PMID:18585512:18585512}" "" "rs267607578" "subst" "0" "; clinvar;" "5.400" "" "" "" "" "MSCV_0001648" "" "0000001649" "0" "77" "1" "156106773" "156106773" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-18 02:44:50" "LMNA_000031" "g.156106773A>G" "" "{PMID:11525883:11525883};{PMID:16061563:16061563}" "" "rs397517893" "subst" "0" "; clinvar;" "5.400" "" "" "" "" "MSCV_0001649" "" "0000001650" "0" "99" "1" "156106776" "156106776" "subst" "51" "0.0000768876" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-02 23:43:55" "LMNA_000001" "g.156106776G>A" "" "{PMID:10999845:10999845};{PMID:11792809:11792809};{PMID:16181372:16181372};{PMID:16415042:16415042};{PMID:19011997:19011997};{PMID:11078466:11078466};{PMID:10999791:10999791};{PMID:10655060:10655060};{PMID:10587585:10587585};{PMID:10739751:10739751};{PMID" "" "rs11575937" "subst" "0" "; clinvar;" "5.400" "" "" "" "" "MSCV_0001650" "" "0000001651" "0" "99" "1" "156106776" "156106776" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-09-10 00:23:08" "LMNA_000002" "g.156106776G>T" "" "{PMID:10999845:10999845};{PMID:11792809:11792809};{PMID:16181372:16181372};{PMID:16415042:16415042};{PMID:19011997:19011997};{PMID:11078466:11078466};{PMID:10999791:10999791};{PMID:10655060:10655060};{PMID:10587585:10587585};{PMID:10739751:10739751};{PMID" "" "rs11575937" "subst" "0" "; clinvar;" "5.400" "" "" "" "" "MSCV_0001651" "" "0000001652" "0" "99" "1" "156107457" "156107457" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 17:07:08" "LMNA_000003" "g.156107457C>A" "" "{PMID:21085127:21085127};{PMID:18031519:18031519};{PMID:14675861:14675861};{PMID:15372542:15372542};{PMID:19167105:19167105}" "" "rs56984562" "subst" "0" "; clinvar;" "4.630" "" "" "" "" "MSCV_0001652" "" "0000001653" "0" "99" "1" "156107457" "156107457" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:44:28" "LMNA_000004" "g.156107457C>G" "" "{PMID:21085127:21085127};{PMID:18031519:18031519};{PMID:14675861:14675861};{PMID:15372542:15372542};{PMID:19167105:19167105}" "" "rs56984562" "subst" "0" "; clinvar;" "4.630" "" "" "" "" "MSCV_0001653" "" "0000001654" "0" "99" "1" "156107457" "156107457" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-05-31 23:24:38" "LMNA_000005" "g.156107457C>T" "" "{PMID:21085127:21085127};{PMID:18031519:18031519};{PMID:14675861:14675861};{PMID:15372542:15372542};{PMID:19167105:19167105}" "" "rs56984562" "subst" "0" "; clinvar;" "4.630" "" "" "" "" "MSCV_0001654" "" "0000001655" "0" "99" "1" "156107547" "156107547" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-03-16 19:21:59" "LMNA_000006" "g.156107547C>A" "" "{PMID:10580070:10580070};{PMID:20301717:20301717}" "" "rs80338938" "subst" "0" "; clinvar;" "5.600" "" "" "" "" "MSCV_0001655" "" "0000001656" "0" "99" "1" "156107547" "156107547" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:44:30" "LMNA_000007" "g.156107547C>T" "" "{PMID:10580070:10580070};{PMID:20301717:20301717}" "" "rs80338938" "subst" "0" "; clinvar;" "5.600" "" "" "" "" "MSCV_0001656" "" "0000001657" "0" "99" "1" "156108298" "156108298" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-06-28 05:40:50" "LMNA_000008" "g.156108298C>T" "" "{PMID:16809772:16809772};{PMID:18926329:18926329};{PMID:12628721:12628721};{PMID:16278265:16278265};{PMID:17250669:17250669};{PMID:17377071:17377071}" "" "rs60890628" "subst" "0" "; clinvar;" "5.500" "" "" "" "" "MSCV_0001657" "" ## 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 = 58 "{{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}}" "0000001600" "00003231" "99" "16" "0" "16" "0" "c.16C>T" "1/10" "p.(Gln6*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001601" "00003231" "11" "51" "0" "51" "0" "c.51C>T" "1/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001602" "00003231" "77" "154" "0" "154" "0" "c.154C>G" "1/10" "p.(Leu52Val)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001603" "00003231" "99" "178" "0" "178" "0" "c.178C>G" "1/10" "p.(Arg60Gly)" "r.(?)" "benign(0.168)" "" "missense_variant" "" "" "tolerated(0.19)" "0000001604" "00003231" "99" "254" "0" "254" "0" "c.254T>G" "1/10" "p.(Leu85Arg)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001605" "00003231" "77" "266" "0" "266" "0" "c.266G>A" "1/10" "p.(Arg89His)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000001606" "00003231" "77" "266" "0" "266" "0" "c.266G>T" "1/10" "p.(Arg89Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001607" "00003231" "77" "289" "0" "289" "0" "c.289A>G" "1/10" "p.(Lys97Glu)" "r.(?)" "possibly_damaging(0.729)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001608" "00003231" "00" "348" "0" "349" "0" "c.348_349insGA" "1/10" "p.(Lys117Glufs*12)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001609" "00003231" "77" "427" "0" "427" "0" "c.427T>C" "2/12" "p.(Ser143Pro)" "r.(?)" "probably_damaging(0.978)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001610" "00003231" "77" "448" "0" "448" "0" "c.448A>C" "2/12" "p.(Thr150Pro)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000001611" "00003231" "99" "481" "0" "481" "0" "c.481G>A" "2/12" "p.(Glu161Lys)" "r.(?)" "possibly_damaging(0.625)" "" "missense_variant" "" "" "tolerated(0.07)" "0000001612" "00003231" "77" "485" "0" "485" "0" "c.485T>C" "2/12" "p.(Leu162Pro)" "r.(?)" "possibly_damaging(0.797)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001613" "00003231" "77" "513" "1" "513" "1" "c.513+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001614" "00003231" "77" "568" "0" "568" "0" "c.568C>T" "3/12" "p.(Arg190Trp)" "r.(?)" "possibly_damaging(0.908)" "" "missense_variant" "" "" "deleterious(0)" "0000001615" "00003231" "77" "575" "0" "575" "0" "c.575A>G" "3/12" "p.(Asp192Gly)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001616" "00003231" "77" "575" "0" "575" "0" "c.575A>T" "3/12" "p.(Asp192Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001617" "00003231" "99" "585" "0" "585" "0" "c.585C>A" "3/12" "p.(Asn195Lys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001618" "00003231" "99" "585" "0" "585" "0" "c.585C>G" "3/12" "p.(Asn195Lys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001619" "00003231" "99" "607" "0" "607" "0" "c.607G>A" "3/12" "p.(Glu203Lys)" "r.(?)" "possibly_damaging(0.679)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001620" "00003231" "99" "608" "0" "608" "0" "c.608A>G" "3/12" "p.(Glu203Gly)" "r.(?)" "probably_damaging(0.988)" "" "missense_variant" "" "" "deleterious(0)" "0000001621" "00003231" "99" "608" "0" "608" "0" "c.608A>T" "3/12" "p.(Glu203Val)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000001622" "00003231" "77" "629" "0" "629" "0" "c.629T>G" "3/12" "p.(Ile210Ser)" "r.(?)" "probably_damaging(0.93)" "" "missense_variant" "" "" "deleterious(0)" "0000001623" "00003231" "99" "644" "0" "644" "0" "c.644T>C" "4/12" "p.(Leu215Pro)" "r.(?)" "probably_damaging(0.968)" "" "missense_variant" "" "" "deleterious(0)" "0000001624" "00003231" "99" "673" "0" "673" "0" "c.673C>T" "4/12" "p.(Arg225*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001625" "00003231" "77" "700" "0" "700" "0" "c.700C>T" "4/12" "p.(Gln234*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001626" "00003231" "77" "749" "0" "749" "0" "c.749C>T" "4/12" "p.(Ala250Val)" "r.(?)" "benign(0.102)" "" "missense_variant" "" "" "tolerated(0.26)" "0000001627" "00003231" "55" "762" "0" "762" "0" "c.762del" "" "p.(Gln255Argfs*225)" "r.(?)" "" "" "" "" "" "-" "0000001628" "00003231" "77" "781" "0" "783" "0" "c.781_783del" "" "p.(Lys261del)" "r.(?)" "" "" "" "" "" "-" "0000001629" "00003231" "77" "784" "0" "784" "0" "c.784G>T" "4/12" "p.(Glu262*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001630" "00003231" "99" "799" "0" "799" "0" "c.799T>C" "4/12" "p.(Tyr267His)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000001631" "00003231" "77" "863" "0" "863" "0" "c.863C>G" "5/12" "p.(Ala288Gly)" "r.(?)" "benign(0.073)" "" "missense_variant" "" "" "deleterious(0)" "0000001632" "00003231" "77" "949" "0" "949" "0" "c.949G>A" "6/12" "p.(Glu317Lys)" "r.(?)" "probably_damaging(0.98)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001633" "00003231" "99" "958" "0" "958" "0" "c.958del" "" "p.(Leu320Phefs*160)" "r.(?)" "" "" "" "" "" "-" "0000001634" "00003231" "99" "959" "0" "959" "0" "c.959del" "" "p.(Arg321Glufs*159)" "r.(?)" "" "" "" "" "" "-" "0000001635" "00003231" "99" "961" "0" "961" "0" "c.961C>T" "6/12" "p.(Arg321*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001636" "00003231" "77" "976" "0" "976" "0" "c.976T>A" "6/12" "p.(Ser326Thr)" "r.(?)" "benign(0.004)" "" "missense_variant" "" "" "tolerated(0.95)" "0000001637" "00003231" "77" "992" "0" "992" "0" "c.992G>A" "6/12" "p.(Arg331Gln)" "r.(?)" "probably_damaging(0.979)" "" "missense_variant" "" "" "deleterious(0.05)" "0000001638" "00003231" "77" "992" "0" "992" "0" "c.992G>C" "6/12" "p.(Arg331Pro)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000001639" "00003231" "77" "1003" "0" "1003" "0" "c.1003C>T" "6/12" "p.(Arg335Trp)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000001640" "00003231" "77" "1106" "0" "1106" "0" "c.1106T>C" "6/12" "p.(Leu369Pro)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001641" "00003231" "55" "1111" "0" "1112" "0" "c.1111_1112insTGGA" "6/12" "p.(Glu372Aspfs*55)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001642" "00003231" "77" "1111" "0" "1125" "0" "c.1111_1125del" "" "p.(Met371_Ala375del)" "r.(?)" "" "" "" "" "" "-" "0000001643" "00003231" "77" "1129" "0" "1129" "0" "c.1129C>T" "6/12" "p.(Arg377Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001644" "00003231" "99" "1130" "0" "1130" "0" "c.1130G>A" "6/12" "p.(Arg377His)" "r.(?)" "probably_damaging(0.969)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001645" "00003231" "99" "1130" "0" "1130" "0" "c.1130G>T" "6/12" "p.(Arg377Leu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001646" "00003231" "77" "1146" "0" "1146" "0" "c.1146C>T" "6/12" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001647" "00003231" "33" "1157" "16" "1157" "16" "c.1157+16G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001648" "00003231" "77" "1412" "0" "1412" "0" "c.1412G>A" "8/12" "p.(Arg471His)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000001649" "00003231" "77" "1442" "0" "1442" "0" "c.1442A>G" "8/12" "p.(Tyr481Cys)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000001650" "00003231" "99" "1445" "0" "1445" "0" "c.1445G>A" "8/12" "p.(Arg482Gln)" "r.(?)" "benign(0.01)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001651" "00003231" "99" "1445" "0" "1445" "0" "c.1445G>T" "8/12" "p.(Arg482Leu)" "r.(?)" "benign(0.187)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001652" "00003231" "77" "1621" "0" "1621" "0" "c.1621C>A" "10/12" "p.(Arg541Ser)" "r.(?)" "probably_damaging(0.959)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001653" "00003231" "77" "1621" "0" "1621" "0" "c.1621C>G" "10/12" "p.(Arg541Gly)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000001654" "00003231" "77" "1621" "0" "1621" "0" "c.1621C>T" "10/12" "p.(Arg541Cys)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000001655" "00003231" "99" "1698" "13" "1698" "13" "c.1698+13C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001656" "00003231" "99" "1698" "13" "1698" "13" "c.1698+13C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001657" "00003231" "99" "1718" "0" "1718" "0" "c.1718C>T" "11/12" "p.(Ser573Leu)" "r.(?)" "benign(0.178)" "" "missense_variant" "" "" "tolerated(0.09)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0