### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ELAC2) # 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}}" "ELAC2" "elaC ribonuclease Z 2" "17" "p11.2" "unknown" "NC_000017.10" "UD_132118718306" "" "" "" "1" "1" "14198" "60528" "605367" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 15:22:12" "" "" "" "" "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 = 3 "{{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}}" "00001869" "ELAC2" "elaC homolog 2 (E. coli), transcript variant 3" "001" "NM_001165962.1" "" "NP_001159434.1" "" "" "" "-117" "3567" "2361" "12921381" "12894929" "00001" "2013-11-15 15:23:09" "" "" "" "17" "00001870" "ELAC2" "elaC homolog 2 (E. coli), transcript variant 2" "002" "NM_173717.1" "" "NP_776065.1" "" "" "" "-117" "3684" "2478" "12921381" "12894929" "00001" "2013-11-15 15:23:09" "" "" "" "17" "00001871" "ELAC2" "elaC homolog 2 (E. coli), transcript variant 1" "003" "NM_018127.6" "" "NP_060597.4" "" "" "" "-117" "3687" "2481" "12921381" "12894929" "00001" "2013-11-15 15:23:09" "" "" "" "17" ## 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}}" "00513" "615440" "Combined oxidative phosphorylation deficiency 17, 615440 (3)" "615440" "" "" "" "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}}" "ELAC2" "00513" ## 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 = 76 "{{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}}" "0000000709" "0" "99" "17" "12899964" "12899964" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-20 14:08:54" "ELAC2_000001" "g.12899964G>A" "" "{PMID:23849775:23849775}" "" "rs397515463" "subst" "0" "; clinvar;" "5.580" "" "" "" "" "MSCV_0000709" "" "0000000710" "0" "99" "17" "12905628" "12905628" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-20 14:04:56" "ELAC2_000002" "g.12905628G>A" "" "{PMID:23849775:23849775}" "" "rs397515466" "subst" "0" "; clinvar;" "4.830" "" "" "" "" "MSCV_0000710" "" "0000000711" "0" "99" "17" "12909284" "12909284" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-20 14:06:57" "ELAC2_000003" "g.12909284T>A" "" "{PMID:23849775:23849775}" "" "rs397515464" "subst" "0" "; clinvar;" "3.260" "" "" "" "" "MSCV_0000711" "" "0000000712" "0" "99" "17" "12917786" "12917786" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-20 14:09:49" "ELAC2_000004" "g.12917786A>G" "" "{PMID:23849775:23849775}" "" "rs397515465" "subst" "0" "; clinvar;" "5.110" "" "" "" "" "MSCV_0000712" "" "0000018191" "0" "33" "17" "12896159" "12896159" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:08:31" "ELAC2_000060" "g.12896159C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018191" "" "0000018192" "0" "55" "17" "12896200" "12896201" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:06:09" "ELAC2_000061" "g.12896200_12896201insATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCCCCCG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018192" "" "0000018193" "0" "00" "17" "12896200" "12896201" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:08:15" "ELAC2_000062" "g.12896200_12896201insATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018193" "" "0000018194" "0" "55" "17" "12896212" "12896212" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:05:40" "ELAC2_000057" "g.12896212C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018194" "" "0000018195" "0" "33" "17" "12896240" "12896240" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:06:49" "ELAC2_000058" "g.12896240C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018195" "" "0000018196" "0" "55" "17" "12896241" "12896241" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:05:56" "ELAC2_000059" "g.12896241G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018196" "" "0000018197" "0" "55" "17" "12896244" "12896244" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:39" "ELAC2_000023" "g.12896244C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018197" "" "0000018198" "0" "55" "17" "12896263" "12896263" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:07:04" "ELAC2_000024" "g.12896263G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018198" "" "0000018199" "0" "00" "17" "12896267" "12896278" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:04:24" "ELAC2_000025" "g.12896267_12896278del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018199" "" "0000018200" "0" "77" "17" "12896274" "12896274" "subst" "35" "0.000922651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:04:44" "ELAC2_000026" "g.12896274C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018200" "" "0000018201" "0" "33" "17" "12896291" "12896291" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-02-21 04:17:07" "ELAC2_000027" "g.12896291G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018201" "" "0000018202" "0" "55" "17" "12896341" "12896341" "subst" "51" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 20:39:42" "ELAC2_000028" "g.12896341T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018202" "" "0000018203" "0" "55" "17" "12897094" "12897094" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:09" "ELAC2_000029" "g.12897094C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018203" "" "0000018204" "0" "33" "17" "12897106" "12897106" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:44" "ELAC2_000030" "g.12897106C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018204" "" "0000018205" "0" "33" "17" "12897115" "12897115" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:06:18" "ELAC2_000031" "g.12897115C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018205" "" "0000018206" "0" "11" "17" "12897127" "12897127" "subst" "35" "0.0214516" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:07:32" "ELAC2_000032" "g.12897127G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018206" "" "0000018207" "0" "33" "17" "12897774" "12897774" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:07:20" "ELAC2_000033" "g.12897774A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018207" "" "0000018208" "0" "99" "17" "12898101" "12898101" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 17:58:03" "ELAC2_000034" "g.12898101del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018208" "" "0000018209" "0" "55" "17" "12898117" "12898117" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:26" "ELAC2_000035" "g.12898117C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018209" "" "0000018210" "0" "55" "17" "12898125" "12898125" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:08:59" "ELAC2_000036" "g.12898125A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018210" "" "0000018211" "0" "11" "17" "12898323" "12898323" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:08:10" "ELAC2_000037" "g.12898323T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018211" "" "0000018212" "0" "55" "17" "12899029" "12899029" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:04:50" "ELAC2_000038" "g.12899029T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018212" "" "0000018213" "0" "55" "17" "12899048" "12899048" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:08:41" "ELAC2_000039" "g.12899048G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018213" "" "0000018214" "0" "11" "17" "12899136" "12899137" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:08:25" "ELAC2_000040" "g.12899136_12899137insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018214" "" "0000018215" "0" "55" "17" "12899256" "12899256" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:04:15" "ELAC2_000041" "g.12899256C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018215" "" "0000018216" "0" "33" "17" "12899263" "12899263" "subst" "35" "0.000307645" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:04" "ELAC2_000042" "g.12899263G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018216" "" "0000018217" "0" "55" "17" "12899286" "12899286" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:07:53" "ELAC2_000043" "g.12899286T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018217" "" "0000018218" "0" "55" "17" "12899864" "12899864" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:58" "ELAC2_000044" "g.12899864C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018218" "" "0000018219" "0" "55" "17" "12899878" "12899878" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:12" "ELAC2_000045" "g.12899878C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018219" "" "0000018220" "0" "11" "17" "12899902" "12899902" "subst" "35" "0.028756" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-12 11:28:09" "ELAC2_000046" "g.12899902C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018220" "" "0000018221" "0" "99" "17" "12899964" "12899964" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-29 04:25:39" "ELAC2_000001" "g.12899964G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000709" "" "0000018222" "0" "11" "17" "12901770" "12901770" "subst" "35" "0.00999539" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:08:45" "ELAC2_000047" "g.12901770C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018222" "" "0000018223" "0" "33" "17" "12901791" "12901791" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:07:45" "ELAC2_000048" "g.12901791A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018223" "" "0000018224" "0" "55" "17" "12901828" "12901828" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-14 10:56:47" "ELAC2_000049" "g.12901828G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018224" "" "0000018225" "0" "33" "17" "12903506" "12903506" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:06:41" "ELAC2_000050" "g.12903506T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018225" "" "0000018226" "0" "11" "17" "12903507" "12903507" "subst" "35" "0.0163771" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:07:26" "ELAC2_000051" "g.12903507G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018226" "" "0000018227" "0" "33" "17" "12903519" "12903519" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:54" "ELAC2_000052" "g.12903519G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018227" "" "0000018228" "0" "11" "17" "12903596" "12903597" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-08 16:31:40" "ELAC2_000053" "g.12903596_12903597insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018228" "" "0000018229" "0" "11" "17" "12903598" "12903599" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:07:58" "ELAC2_000054" "g.12903598_12903599insGAGA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018229" "" "0000018230" "0" "99" "17" "12905628" "12905628" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:05:11" "ELAC2_000002" "g.12905628G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000710" "" "0000018231" "0" "55" "17" "12905790" "12905790" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:21" "ELAC2_000055" "g.12905790T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018231" "" "0000018232" "0" "77" "17" "12906847" "12906847" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:06:25" "ELAC2_000056" "g.12906847A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018232" "" "0000018233" "0" "77" "17" "12908360" "12908360" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:41" "ELAC2_000010" "g.12908360T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018233" "" "0000018234" "0" "99" "17" "12909284" "12909284" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:08:04" "ELAC2_000003" "g.12909284T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000711" "" "0000018235" "0" "77" "17" "12915101" "12915101" "subst" "35" "0.00230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:04:31" "ELAC2_000013" "g.12915101T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018235" "" "0000018236" "0" "99" "17" "12917786" "12917786" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:05:32" "ELAC2_000004" "g.12917786A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000712" "" "0000018237" "0" "33" "17" "12919078" "12919078" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:17" "ELAC2_000016" "g.12919078G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018237" "" "0000018238" "0" "55" "17" "12919123" "12919123" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:07:39" "ELAC2_000018" "g.12919123C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018238" "" "0000018239" "0" "55" "17" "12919130" "12919130" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:08:02" "ELAC2_000020" "g.12919130C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018239" "" "0000018240" "0" "11" "17" "12919153" "12919153" "subst" "35" "0.00438259" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:06:03" "ELAC2_000021" "g.12919153A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018240" "" "0000018241" "0" "33" "17" "12920199" "12920199" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:08:08" "ELAC2_000022" "g.12920199G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018241" "" "0000018242" "0" "55" "17" "12920221" "12920221" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-20 07:05:53" "ELAC2_000009" "g.12920221A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018242" "" "0000018243" "0" "00" "17" "12920250" "12920251" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:03:59" "ELAC2_000011" "g.12920250_12920251delinsA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018243" "" "0000018244" "0" "33" "17" "12921025" "12921025" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:06:31" "ELAC2_000012" "g.12921025G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018244" "" "0000018245" "0" "11" "17" "12921091" "12921091" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:04:05" "ELAC2_000014" "g.12921091C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018245" "" "0000018246" "0" "33" "17" "12921110" "12921110" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:03:53" "ELAC2_000015" "g.12921110G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018246" "" "0000018247" "0" "33" "17" "12921110" "12921110" "subst" "35" "0.00147906" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:03:46" "ELAC2_000017" "g.12921110G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018247" "" "0000018248" "0" "55" "17" "12921120" "12921120" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:07:10" "ELAC2_000019" "g.12921120A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018248" "" "0000018249" "0" "55" "17" "12921167" "12921167" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:36:52" "ELAC2_000005" "g.12921167C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018249" "" "0000018250" "0" "33" "17" "12921170" "12921170" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 01:48:34" "ELAC2_000006" "g.12921170G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018250" "" "0000018251" "0" "55" "17" "12921183" "12921183" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-07-03 12:38:21" "ELAC2_000007" "g.12921183G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018251" "" "0000018252" "0" "55" "17" "12921215" "12921215" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:09:35" "ELAC2_000008" "g.12921215G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018252" "" "0000025491" "0" "00" "17" "12896297" "12896297" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:22:31" "ELAC2_000071" "g.12896297G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025492" "0" "00" "17" "12898186" "12898186" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:22:44" "ELAC2_000072" "g.12898186C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025493" "0" "00" "17" "12899881" "12899882" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:36:50" "ELAC2_000063" "g.12899881_12899882insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025494" "0" "00" "17" "12899960" "12899960" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:37:04" "ELAC2_000064" "g.12899960A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025495" "0" "00" "17" "12903523" "12903523" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:37:17" "ELAC2_000065" "g.12903523T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025496" "0" "00" "17" "12903573" "12903573" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:37:39" "ELAC2_000066" "g.12903573G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025497" "0" "00" "17" "12905765" "12905765" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:37:52" "ELAC2_000067" "g.12905765C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025498" "0" "00" "17" "12916571" "12916571" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:38:05" "ELAC2_000068" "g.12916571G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025499" "0" "00" "17" "12917789" "12917789" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:38:29" "ELAC2_000069" "g.12917789del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025500" "0" "00" "17" "12919132" "12919132" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:38:42" "ELAC2_000070" "g.12919132T>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 = 228 "{{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}}" "0000000709" "00001869" "99" "1439" "0" "1439" "0" "c.1439C>T" "16/23" "p.(Thr480Ile)" "r.(?)" "probably_damaging(0.983)" "" "missense_variant" "" "" "deleterious(0)" "0000000709" "00001870" "99" "1556" "0" "1556" "0" "c.1556C>T" "17/24" "p.(Thr519Ile)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000709" "00001871" "99" "1559" "0" "1559" "0" "c.1559C>T" "17/24" "p.(Thr520Ile)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000000710" "00001869" "99" "1147" "0" "1147" "0" "c.1147C>T" "13/23" "p.(Leu383Phe)" "r.(?)" "benign(0.41)" "" "missense_variant" "" "" "tolerated(0.22)" "0000000710" "00001870" "99" "1264" "0" "1264" "0" "c.1264C>T" "14/24" "p.(Leu422Phe)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000710" "00001871" "99" "1267" "0" "1267" "0" "c.1267C>T" "14/24" "p.(Leu423Phe)" "r.(?)" "probably_damaging(0.991)" "" "missense_variant" "" "" "tolerated(0.23)" "0000000711" "00001869" "99" "631" "0" "631" "0" "c.631A>T" "8/23" "p.(Arg211*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000711" "00001870" "99" "751" "0" "751" "0" "c.751A>T" "9/24" "p.(Arg251*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000711" "00001871" "99" "751" "0" "751" "0" "c.751A>T" "9/24" "p.(Arg251*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000712" "00001869" "99" "460" "0" "460" "0" "c.460T>C" "5/23" "p.(Phe154Leu)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000000712" "00001870" "99" "460" "0" "460" "0" "c.460T>C" "5/23" "p.(Phe154Leu)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000000712" "00001871" "99" "460" "0" "460" "0" "c.460T>C" "5/23" "p.(Phe154Leu)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000018191" "00001869" "00" "2337" "0" "2337" "0" "c.2337G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018191" "00001870" "00" "2454" "0" "2454" "0" "c.2454G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018191" "00001871" "00" "2457" "0" "2457" "0" "c.2457G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018192" "00001869" "00" "2295" "0" "2296" "0" "c.2295_2296insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT" "" "p.(Asp765_Gly766insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp)" "r.(?)" "" "" "" "" "" "-" "0000018192" "00001870" "00" "2412" "0" "2413" "0" "c.2412_2413insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT" "" "p.(Asp804_Gly805insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp)" "r.(?)" "" "" "" "" "" "-" "0000018192" "00001871" "00" "2415" "0" "2416" "0" "c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT" "" "p.(Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp)" "r.(?)" "" "" "" "" "" "-" "0000018193" "00001869" "00" "2295" "0" "2296" "0" "c.2295_2296insCGGGAGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT" "" "p.(Arg745_Asp765dup)" "r.(?)" "" "" "" "" "" "-" "0000018193" "00001870" "00" "2412" "0" "2413" "0" "c.2412_2413insCGGGAGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT" "" "p.(Arg784_Asp804dup)" "r.(?)" "" "" "" "" "" "-" "0000018193" "00001871" "00" "2415" "0" "2416" "0" "c.2415_2416insCGGGAGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT" "" "p.(Arg785_Asp805dup)" "r.(?)" "" "" "" "" "" "-" "0000018194" "00001869" "00" "2284" "0" "2284" "0" "c.2284G>A" "" "p.(Gly762Ser)" "r.(?)" "" "" "" "" "" "-" "0000018194" "00001870" "00" "2401" "0" "2401" "0" "c.2401G>A" "" "p.(Gly801Ser)" "r.(?)" "" "" "" "" "" "-" "0000018194" "00001871" "00" "2404" "0" "2404" "0" "c.2404G>A" "" "p.(Gly802Ser)" "r.(?)" "" "" "" "" "" "-" "0000018195" "00001869" "00" "2256" "0" "2256" "0" "c.2256G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018195" "00001870" "00" "2373" "0" "2373" "0" "c.2373G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018195" "00001871" "00" "2376" "0" "2376" "0" "c.2376G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018196" "00001869" "00" "2255" "0" "2255" "0" "c.2255C>T" "" "p.(Ala752Val)" "r.(?)" "" "" "" "" "" "-" "0000018196" "00001870" "00" "2372" "0" "2372" "0" "c.2372C>T" "" "p.(Ala791Val)" "r.(?)" "" "" "" "" "" "-" "0000018196" "00001871" "00" "2375" "0" "2375" "0" "c.2375C>T" "" "p.(Ala792Val)" "r.(?)" "" "" "" "" "" "-" "0000018197" "00001869" "00" "2252" "0" "2252" "0" "c.2252G>A" "" "p.(Arg751Gln)" "r.(?)" "" "" "" "" "" "-" "0000018197" "00001870" "00" "2369" "0" "2369" "0" "c.2369G>A" "" "p.(Arg790Gln)" "r.(?)" "" "" "" "" "" "-" "0000018197" "00001871" "00" "2372" "0" "2372" "0" "c.2372G>A" "" "p.(Arg791Gln)" "r.(?)" "" "" "" "" "" "-" "0000018198" "00001869" "00" "2233" "0" "2233" "0" "c.2233C>T" "" "p.(Arg745Trp)" "r.(?)" "" "" "" "" "" "-" "0000018198" "00001870" "00" "2350" "0" "2350" "0" "c.2350C>T" "" "p.(Arg784Trp)" "r.(?)" "" "" "" "" "" "-" "0000018198" "00001871" "00" "2353" "0" "2353" "0" "c.2353C>T" "" "p.(Arg785Trp)" "r.(?)" "" "" "" "" "" "-" "0000018199" "00001869" "00" "2218" "0" "2229" "0" "c.2218_2229del" "" "p.(Glu740_Glu743del)" "r.(?)" "" "" "" "" "" "-" "0000018199" "00001870" "00" "2335" "0" "2346" "0" "c.2335_2346del" "" "p.(Glu779_Glu782del)" "r.(?)" "" "" "" "" "" "-" "0000018199" "00001871" "00" "2338" "0" "2349" "0" "c.2338_2349del" "" "p.(Glu780_Glu783del)" "r.(?)" "" "" "" "" "" "-" "0000018200" "00001869" "00" "2222" "0" "2222" "0" "c.2222G>A" "" "p.(Arg741His)" "r.(?)" "" "" "" "" "" "-" "0000018200" "00001870" "00" "2339" "0" "2339" "0" "c.2339G>A" "" "p.(Arg780His)" "r.(?)" "" "" "" "" "" "-" "0000018200" "00001871" "00" "2342" "0" "2342" "0" "c.2342G>A" "" "p.(Arg781His)" "r.(?)" "" "" "" "" "" "-" "0000018201" "00001869" "00" "2205" "0" "2205" "0" "c.2205C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018201" "00001870" "00" "2322" "0" "2322" "0" "c.2322C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018201" "00001871" "00" "2325" "0" "2325" "0" "c.2325C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018202" "00001869" "00" "2155" "0" "2155" "0" "c.2155A>G" "" "p.(Thr719Ala)" "r.(?)" "" "" "" "" "" "-" "0000018202" "00001870" "00" "2272" "0" "2272" "0" "c.2272A>G" "" "p.(Thr758Ala)" "r.(?)" "" "" "" "" "" "-" "0000018202" "00001871" "00" "2275" "0" "2275" "0" "c.2275A>G" "" "p.(Thr759Ala)" "r.(?)" "" "" "" "" "" "-" "0000018203" "00001869" "00" "2043" "0" "2043" "0" "c.2043G>T" "" "p.(Met681Ile)" "r.(?)" "" "" "" "" "" "-" "0000018203" "00001870" "00" "2160" "0" "2160" "0" "c.2160G>T" "" "p.(Met720Ile)" "r.(?)" "" "" "" "" "" "-" "0000018203" "00001871" "00" "2163" "0" "2163" "0" "c.2163G>T" "" "p.(Met721Ile)" "r.(?)" "" "" "" "" "" "-" "0000018204" "00001869" "00" "2031" "0" "2031" "0" "c.2031G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018204" "00001870" "00" "2148" "0" "2148" "0" "c.2148G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018204" "00001871" "00" "2151" "0" "2151" "0" "c.2151G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018205" "00001869" "00" "2022" "0" "2022" "0" "c.2022G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018205" "00001870" "00" "2139" "0" "2139" "0" "c.2139G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018205" "00001871" "00" "2142" "0" "2142" "0" "c.2142G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018206" "00001869" "00" "2010" "0" "2010" "0" "c.2010C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018206" "00001870" "00" "2127" "0" "2127" "0" "c.2127C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018206" "00001871" "00" "2130" "0" "2130" "0" "c.2130C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018207" "00001869" "00" "1956" "0" "1956" "0" "c.1956T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018207" "00001870" "00" "2073" "0" "2073" "0" "c.2073T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018207" "00001871" "00" "2076" "0" "2076" "0" "c.2076T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018208" "00001869" "00" "1889" "0" "1889" "0" "c.1889del" "" "p.(Cys630Serfs*14)" "r.(?)" "" "" "" "" "" "-" "0000018208" "00001870" "00" "2006" "0" "2006" "0" "c.2006del" "" "p.(Cys669Serfs*14)" "r.(?)" "" "" "" "" "" "-" "0000018208" "00001871" "00" "2009" "0" "2009" "0" "c.2009del" "" "p.(Cys670Serfs*14)" "r.(?)" "" "" "" "" "" "-" "0000018209" "00001869" "00" "1873" "0" "1873" "0" "c.1873G>A" "" "p.(Gly625Arg)" "r.(?)" "" "" "" "" "" "-" "0000018209" "00001870" "00" "1990" "0" "1990" "0" "c.1990G>A" "" "p.(Gly664Arg)" "r.(?)" "" "" "" "" "" "-" "0000018209" "00001871" "00" "1993" "0" "1993" "0" "c.1993G>A" "" "p.(Gly665Arg)" "r.(?)" "" "" "" "" "" "-" "0000018210" "00001869" "00" "1865" "0" "1865" "0" "c.1865T>C" "" "p.(Val622Ala)" "r.(?)" "" "" "" "" "" "-" "0000018210" "00001870" "00" "1982" "0" "1982" "0" "c.1982T>C" "" "p.(Val661Ala)" "r.(?)" "" "" "" "" "" "-" "0000018210" "00001871" "00" "1985" "0" "1985" "0" "c.1985T>C" "" "p.(Val662Ala)" "r.(?)" "" "" "" "" "" "-" "0000018211" "00001869" "00" "1745" "0" "1745" "0" "c.1745A>T" "" "p.(Glu582Val)" "r.(?)" "" "" "" "" "" "-" "0000018211" "00001870" "00" "1862" "0" "1862" "0" "c.1862A>T" "" "p.(Glu621Val)" "r.(?)" "" "" "" "" "" "-" "0000018211" "00001871" "00" "1865" "0" "1865" "0" "c.1865A>T" "" "p.(Glu622Val)" "r.(?)" "" "" "" "" "" "-" "0000018212" "00001869" "00" "1679" "0" "1679" "0" "c.1679A>G" "" "p.(His560Arg)" "r.(?)" "" "" "" "" "" "-" "0000018212" "00001870" "00" "1796" "0" "1796" "0" "c.1796A>G" "" "p.(His599Arg)" "r.(?)" "" "" "" "" "" "-" "0000018212" "00001871" "00" "1799" "0" "1799" "0" "c.1799A>G" "" "p.(His600Arg)" "r.(?)" "" "" "" "" "" "-" "0000018213" "00001869" "00" "1660" "0" "1660" "0" "c.1660C>G" "" "p.(Gln554Glu)" "r.(?)" "" "" "" "" "" "-" "0000018213" "00001870" "00" "1777" "0" "1777" "0" "c.1777C>G" "" "p.(Gln593Glu)" "r.(?)" "" "" "" "" "" "-" "0000018213" "00001871" "00" "1780" "0" "1780" "0" "c.1780C>G" "" "p.(Gln594Glu)" "r.(?)" "" "" "" "" "" "-" "0000018214" "00001869" "00" "1579" "-8" "1579" "-7" "c.1579-8_1579-7insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018214" "00001870" "00" "1696" "-8" "1696" "-7" "c.1696-8_1696-7insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018214" "00001871" "00" "1699" "-8" "1699" "-7" "c.1699-8_1699-7insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018215" "00001869" "00" "1578" "1" "1578" "1" "c.1578+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018215" "00001870" "00" "1695" "1" "1695" "1" "c.1695+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018215" "00001871" "00" "1698" "1" "1698" "1" "c.1698+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018216" "00001869" "00" "1572" "0" "1572" "0" "c.1572C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018216" "00001870" "00" "1689" "0" "1689" "0" "c.1689C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018216" "00001871" "00" "1692" "0" "1692" "0" "c.1692C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018217" "00001869" "00" "1549" "0" "1549" "0" "c.1549A>G" "" "p.(Ser517Gly)" "r.(?)" "" "" "" "" "" "-" "0000018217" "00001870" "00" "1666" "0" "1666" "0" "c.1666A>G" "" "p.(Ser556Gly)" "r.(?)" "" "" "" "" "" "-" "0000018217" "00001871" "00" "1669" "0" "1669" "0" "c.1669A>G" "" "p.(Ser557Gly)" "r.(?)" "" "" "" "" "" "-" "0000018218" "00001869" "00" "1539" "0" "1539" "0" "c.1539G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018218" "00001870" "00" "1656" "0" "1656" "0" "c.1656G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018218" "00001871" "00" "1659" "0" "1659" "0" "c.1659G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018219" "00001869" "00" "1525" "0" "1525" "0" "c.1525G>A" "" "p.(Ala509Thr)" "r.(?)" "" "" "" "" "" "-" "0000018219" "00001870" "00" "1642" "0" "1642" "0" "c.1642G>A" "" "p.(Ala548Thr)" "r.(?)" "" "" "" "" "" "-" "0000018219" "00001871" "00" "1645" "0" "1645" "0" "c.1645G>A" "" "p.(Ala549Thr)" "r.(?)" "" "" "" "" "" "-" "0000018220" "00001869" "00" "1501" "0" "1501" "0" "c.1501G>A" "" "p.(Ala501Thr)" "r.(?)" "" "" "" "" "" "-" "0000018220" "00001870" "00" "1618" "0" "1618" "0" "c.1618G>A" "" "p.(Ala540Thr)" "r.(?)" "" "" "" "" "" "-" "0000018220" "00001871" "00" "1621" "0" "1621" "0" "c.1621G>A" "" "p.(Ala541Thr)" "r.(?)" "" "" "" "" "" "-" "0000018221" "00001869" "00" "1439" "0" "1439" "0" "c.1439C>T" "" "p.(Thr480Ile)" "r.(?)" "" "" "" "" "" "-" "0000018221" "00001870" "00" "1556" "0" "1556" "0" "c.1556C>T" "" "p.(Thr519Ile)" "r.(?)" "" "" "" "" "" "-" "0000018221" "00001871" "00" "1559" "0" "1559" "0" "c.1559C>T" "" "p.(Thr520Ile)" "r.(?)" "" "" "" "" "" "-" "0000018222" "00001869" "00" "1359" "0" "1359" "0" "c.1359G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018222" "00001870" "00" "1476" "0" "1476" "0" "c.1476G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018222" "00001871" "00" "1479" "0" "1479" "0" "c.1479G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018223" "00001869" "00" "1338" "0" "1338" "0" "c.1338T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018223" "00001870" "00" "1455" "0" "1455" "0" "c.1455T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018223" "00001871" "00" "1458" "0" "1458" "0" "c.1458T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018224" "00001869" "00" "1304" "-3" "1304" "-3" "c.1304-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018224" "00001870" "00" "1421" "-3" "1421" "-3" "c.1421-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018224" "00001871" "00" "1424" "-3" "1424" "-3" "c.1424-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018225" "00001869" "00" "1270" "0" "1270" "0" "c.1270A>T" "" "p.(Arg424Trp)" "r.(?)" "" "" "" "" "" "-" "0000018225" "00001870" "00" "1387" "0" "1387" "0" "c.1387A>T" "" "p.(Arg463Trp)" "r.(?)" "" "" "" "" "" "-" "0000018225" "00001871" "00" "1390" "0" "1390" "0" "c.1390A>T" "" "p.(Arg464Trp)" "r.(?)" "" "" "" "" "" "-" "0000018226" "00001869" "00" "1269" "0" "1269" "0" "c.1269C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018226" "00001870" "00" "1386" "0" "1386" "0" "c.1386C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018226" "00001871" "00" "1389" "0" "1389" "0" "c.1389C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018227" "00001869" "00" "1257" "0" "1257" "0" "c.1257C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018227" "00001870" "00" "1374" "0" "1374" "0" "c.1374C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018227" "00001871" "00" "1377" "0" "1377" "0" "c.1377C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018228" "00001869" "00" "1185" "-6" "1185" "-5" "c.1185-6_1185-5insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018228" "00001870" "00" "1302" "-6" "1302" "-5" "c.1302-6_1302-5insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018228" "00001871" "00" "1305" "-6" "1305" "-5" "c.1305-6_1305-5insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018229" "00001869" "00" "1185" "-8" "1185" "-7" "c.1185-8_1185-7insTCTC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018229" "00001870" "00" "1302" "-8" "1302" "-7" "c.1302-8_1302-7insTCTC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018229" "00001871" "00" "1305" "-8" "1305" "-7" "c.1305-8_1305-7insTCTC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018230" "00001869" "00" "1147" "0" "1147" "0" "c.1147C>T" "" "p.(Leu383Phe)" "r.(?)" "" "" "" "" "" "-" "0000018230" "00001870" "00" "1264" "0" "1264" "0" "c.1264C>T" "" "p.(Leu422Phe)" "r.(?)" "" "" "" "" "" "-" "0000018230" "00001871" "00" "1267" "0" "1267" "0" "c.1267C>T" "" "p.(Leu423Phe)" "r.(?)" "" "" "" "" "" "-" "0000018231" "00001869" "00" "1066" "0" "1066" "0" "c.1066A>G" "" "p.(Ile356Val)" "r.(?)" "" "" "" "" "" "-" "0000018231" "00001870" "00" "1186" "0" "1186" "0" "c.1186A>G" "" "p.(Ile396Val)" "r.(?)" "" "" "" "" "" "-" "0000018231" "00001871" "00" "1186" "0" "1186" "0" "c.1186A>G" "" "p.(Ile396Val)" "r.(?)" "" "" "" "" "" "-" "0000018232" "00001869" "00" "908" "0" "908" "0" "c.908T>G" "" "p.(Met303Arg)" "r.(?)" "" "" "" "" "" "-" "0000018232" "00001870" "00" "1028" "0" "1028" "0" "c.1028T>G" "" "p.(Met343Arg)" "r.(?)" "" "" "" "" "" "-" "0000018232" "00001871" "00" "1028" "0" "1028" "0" "c.1028T>G" "" "p.(Met343Arg)" "r.(?)" "" "" "" "" "" "-" "0000018233" "00001869" "00" "809" "0" "809" "0" "c.809A>C" "" "p.(Glu270Ala)" "r.(?)" "" "" "" "" "" "-" "0000018233" "00001870" "00" "929" "0" "929" "0" "c.929A>C" "" "p.(Glu310Ala)" "r.(?)" "" "" "" "" "" "-" "0000018233" "00001871" "00" "929" "0" "929" "0" "c.929A>C" "" "p.(Glu310Ala)" "r.(?)" "" "" "" "" "" "-" "0000018234" "00001869" "00" "631" "0" "631" "0" "c.631A>T" "" "p.(Arg211*)" "r.(?)" "" "" "" "" "" "-" "0000018234" "00001870" "00" "751" "0" "751" "0" "c.751A>T" "" "p.(Arg251*)" "r.(?)" "" "" "" "" "" "-" "0000018234" "00001871" "00" "751" "0" "751" "0" "c.751A>T" "" "p.(Arg251*)" "r.(?)" "" "" "" "" "" "-" "0000018235" "00001869" "00" "560" "-1113" "560" "-1113" "c.560-1113A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018235" "00001870" "00" "560" "-2" "560" "-2" "c.560-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018235" "00001871" "00" "560" "-2" "560" "-2" "c.560-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018236" "00001869" "00" "460" "0" "460" "0" "c.460T>C" "" "p.(Phe154Leu)" "r.(?)" "" "" "" "" "" "-" "0000018236" "00001870" "00" "460" "0" "460" "0" "c.460T>C" "" "p.(Phe154Leu)" "r.(?)" "" "" "" "" "" "-" "0000018236" "00001871" "00" "460" "0" "460" "0" "c.460T>C" "" "p.(Phe154Leu)" "r.(?)" "" "" "" "" "" "-" "0000018237" "00001869" "00" "432" "7" "432" "7" "c.432+7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018237" "00001870" "00" "432" "7" "432" "7" "c.432+7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018237" "00001871" "00" "432" "7" "432" "7" "c.432+7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018238" "00001869" "00" "394" "0" "394" "0" "c.394G>A" "" "p.(Gly132Arg)" "r.(?)" "" "" "" "" "" "-" "0000018238" "00001870" "00" "394" "0" "394" "0" "c.394G>A" "" "p.(Gly132Arg)" "r.(?)" "" "" "" "" "" "-" "0000018238" "00001871" "00" "394" "0" "394" "0" "c.394G>A" "" "p.(Gly132Arg)" "r.(?)" "" "" "" "" "" "-" "0000018239" "00001869" "00" "387" "0" "387" "0" "c.387G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018239" "00001870" "00" "387" "0" "387" "0" "c.387G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018239" "00001871" "00" "387" "0" "387" "0" "c.387G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018240" "00001869" "00" "368" "-4" "368" "-4" "c.368-4T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018240" "00001870" "00" "368" "-4" "368" "-4" "c.368-4T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018240" "00001871" "00" "368" "-4" "368" "-4" "c.368-4T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018241" "00001869" "00" "347" "0" "347" "0" "c.347C>T" "" "p.(Ser116Phe)" "r.(?)" "" "" "" "" "" "-" "0000018241" "00001870" "00" "347" "0" "347" "0" "c.347C>T" "" "p.(Ser116Phe)" "r.(?)" "" "" "" "" "" "-" "0000018241" "00001871" "00" "347" "0" "347" "0" "c.347C>T" "" "p.(Ser116Phe)" "r.(?)" "" "" "" "" "" "-" "0000018242" "00001869" "00" "325" "0" "325" "0" "c.325T>C" "" "p.(Phe109Leu)" "r.(?)" "" "" "" "" "" "-" "0000018242" "00001870" "00" "325" "0" "325" "0" "c.325T>C" "" "p.(Phe109Leu)" "r.(?)" "" "" "" "" "" "-" "0000018242" "00001871" "00" "325" "0" "325" "0" "c.325T>C" "" "p.(Phe109Leu)" "r.(?)" "" "" "" "" "" "-" "0000018243" "00001869" "00" "297" "-2" "297" "-1" "c.297-2_297-1delinsT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018243" "00001870" "00" "297" "-2" "297" "-1" "c.297-2_297-1delinsT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018243" "00001871" "00" "297" "-2" "297" "-1" "c.297-2_297-1delinsT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018244" "00001869" "00" "240" "0" "240" "0" "c.240C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018244" "00001870" "00" "240" "0" "240" "0" "c.240C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018244" "00001871" "00" "240" "0" "240" "0" "c.240C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018245" "00001869" "00" "174" "0" "174" "0" "c.174G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018245" "00001870" "00" "174" "0" "174" "0" "c.174G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018245" "00001871" "00" "174" "0" "174" "0" "c.174G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018246" "00001869" "00" "155" "0" "155" "0" "c.155C>G" "" "p.(Ser52Cys)" "r.(?)" "" "" "" "" "" "-" "0000018246" "00001870" "00" "155" "0" "155" "0" "c.155C>G" "" "p.(Ser52Cys)" "r.(?)" "" "" "" "" "" "-" "0000018246" "00001871" "00" "155" "0" "155" "0" "c.155C>G" "" "p.(Ser52Cys)" "r.(?)" "" "" "" "" "" "-" "0000018247" "00001869" "00" "155" "0" "155" "0" "c.155C>T" "" "p.(Ser52Phe)" "r.(?)" "" "" "" "" "" "-" "0000018247" "00001870" "00" "155" "0" "155" "0" "c.155C>T" "" "p.(Ser52Phe)" "r.(?)" "" "" "" "" "" "-" "0000018247" "00001871" "00" "155" "0" "155" "0" "c.155C>T" "" "p.(Ser52Phe)" "r.(?)" "" "" "" "" "" "-" "0000018248" "00001869" "00" "145" "0" "145" "0" "c.145T>C" "" "p.(Ser49Pro)" "r.(?)" "" "" "" "" "" "-" "0000018248" "00001870" "00" "145" "0" "145" "0" "c.145T>C" "" "p.(Ser49Pro)" "r.(?)" "" "" "" "" "" "-" "0000018248" "00001871" "00" "145" "0" "145" "0" "c.145T>C" "" "p.(Ser49Pro)" "r.(?)" "" "" "" "" "" "-" "0000018249" "00001869" "00" "98" "0" "98" "0" "c.98G>T" "" "p.(Arg33Leu)" "r.(?)" "" "" "" "" "" "-" "0000018249" "00001870" "00" "98" "0" "98" "0" "c.98G>T" "" "p.(Arg33Leu)" "r.(?)" "" "" "" "" "" "-" "0000018249" "00001871" "00" "98" "0" "98" "0" "c.98G>T" "" "p.(Arg33Leu)" "r.(?)" "" "" "" "" "" "-" "0000018250" "00001869" "00" "95" "0" "95" "0" "c.95C>G" "" "p.(Pro32Arg)" "r.(?)" "" "" "" "" "" "-" "0000018250" "00001870" "00" "95" "0" "95" "0" "c.95C>G" "" "p.(Pro32Arg)" "r.(?)" "" "" "" "" "" "-" "0000018250" "00001871" "00" "95" "0" "95" "0" "c.95C>G" "" "p.(Pro32Arg)" "r.(?)" "" "" "" "" "" "-" "0000018251" "00001869" "00" "82" "0" "82" "0" "c.82C>T" "" "p.(Arg28Cys)" "r.(?)" "" "" "" "" "" "-" "0000018251" "00001870" "00" "82" "0" "82" "0" "c.82C>T" "" "p.(Arg28Cys)" "r.(?)" "" "" "" "" "" "-" "0000018251" "00001871" "00" "82" "0" "82" "0" "c.82C>T" "" "p.(Arg28Cys)" "r.(?)" "" "" "" "" "" "-" "0000018252" "00001869" "00" "50" "0" "50" "0" "c.50C>T" "" "p.(Ser17Leu)" "r.(?)" "" "" "" "" "" "-" "0000018252" "00001870" "00" "50" "0" "50" "0" "c.50C>T" "" "p.(Ser17Leu)" "r.(?)" "" "" "" "" "" "-" "0000018252" "00001871" "00" "50" "0" "50" "0" "c.50C>T" "" "p.(Ser17Leu)" "r.(?)" "" "" "" "" "" "-" "0000025491" "00001869" "00" "2199" "0" "2199" "0" "c.2199C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025491" "00001870" "00" "2316" "0" "2316" "0" "c.2316C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025491" "00001871" "00" "2319" "0" "2319" "0" "c.2319C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025492" "00001869" "00" "1804" "0" "1804" "0" "c.1804G>A" "" "p.(Val602Met)" "r.(?)" "" "" "" "" "" "-" "0000025492" "00001870" "00" "1921" "0" "1921" "0" "c.1921G>A" "" "p.(Val641Met)" "r.(?)" "" "" "" "" "" "-" "0000025492" "00001871" "00" "1924" "0" "1924" "0" "c.1924G>A" "" "p.(Val642Met)" "r.(?)" "" "" "" "" "" "-" "0000025493" "00001869" "00" "1521" "0" "1522" "0" "c.1521_1522insG" "" "p.(His508Alafs*68)" "r.(?)" "" "" "" "" "" "-" "0000025493" "00001870" "00" "1638" "0" "1639" "0" "c.1638_1639insG" "" "p.(His547Alafs*68)" "r.(?)" "" "" "" "" "" "-" "0000025493" "00001871" "00" "1641" "0" "1642" "0" "c.1641_1642insG" "" "p.(His548Alafs*68)" "r.(?)" "" "" "" "" "" "-" "0000025494" "00001869" "00" "1443" "0" "1443" "0" "c.1443T>G" "" "p.(Phe481Leu)" "r.(?)" "" "" "" "" "" "-" "0000025494" "00001870" "00" "1560" "0" "1560" "0" "c.1560T>G" "" "p.(Phe520Leu)" "r.(?)" "" "" "" "" "" "-" "0000025494" "00001871" "00" "1563" "0" "1563" "0" "c.1563T>G" "" "p.(Phe521Leu)" "r.(?)" "" "" "" "" "" "-" "0000025495" "00001869" "00" "1253" "0" "1253" "0" "c.1253A>G" "" "p.(Gln418Arg)" "r.(?)" "" "" "" "" "" "-" "0000025495" "00001870" "00" "1370" "0" "1370" "0" "c.1370A>G" "" "p.(Gln457Arg)" "r.(?)" "" "" "" "" "" "-" "0000025495" "00001871" "00" "1373" "0" "1373" "0" "c.1373A>G" "" "p.(Gln458Arg)" "r.(?)" "" "" "" "" "" "-" "0000025496" "00001869" "00" "1203" "0" "1203" "0" "c.1203C>G" "" "p.(Cys401Trp)" "r.(?)" "" "" "" "" "" "-" "0000025496" "00001870" "00" "1320" "0" "1320" "0" "c.1320C>G" "" "p.(Cys440Trp)" "r.(?)" "" "" "" "" "" "-" "0000025496" "00001871" "00" "1323" "0" "1323" "0" "c.1323C>G" "" "p.(Cys441Trp)" "r.(?)" "" "" "" "" "" "-" "0000025497" "00001869" "00" "1091" "0" "1091" "0" "c.1091G>T" "" "p.(Arg364Leu)" "r.(?)" "" "" "" "" "" "-" "0000025497" "00001870" "00" "1211" "0" "1211" "0" "c.1211G>T" "" "p.(Arg404Leu)" "r.(?)" "" "" "" "" "" "-" "0000025497" "00001871" "00" "1211" "0" "1211" "0" "c.1211G>T" "" "p.(Arg404Leu)" "r.(?)" "" "" "" "" "" "-" "0000025498" "00001869" "00" "512" "0" "512" "0" "c.512C>T" "" "p.(Pro171Leu)" "r.(?)" "" "" "" "" "" "-" "0000025498" "00001870" "00" "512" "0" "512" "0" "c.512C>T" "" "p.(Pro171Leu)" "r.(?)" "" "" "" "" "" "-" "0000025498" "00001871" "00" "512" "0" "512" "0" "c.512C>T" "" "p.(Pro171Leu)" "r.(?)" "" "" "" "" "" "-" "0000025499" "00001869" "00" "457" "0" "457" "0" "c.457del" "" "p.(Ile153Tyrfs*6)" "r.(?)" "" "" "" "" "" "-" "0000025499" "00001870" "00" "457" "0" "457" "0" "c.457del" "" "p.(Ile153Tyrfs*6)" "r.(?)" "" "" "" "" "" "-" "0000025499" "00001871" "00" "457" "0" "457" "0" "c.457del" "" "p.(Ile153Tyrfs*6)" "r.(?)" "" "" "" "" "" "-" "0000025500" "00001869" "00" "385" "0" "385" "0" "c.385A>G" "" "p.(Lys129Glu)" "r.(?)" "" "" "" "" "" "-" "0000025500" "00001870" "00" "385" "0" "385" "0" "c.385A>G" "" "p.(Lys129Glu)" "r.(?)" "" "" "" "" "" "-" "0000025500" "00001871" "00" "385" "0" "385" "0" "c.385A>G" "" "p.(Lys129Glu)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0