### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACE2) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "ACE2" "angiotensin I converting enzyme (peptidyl-dipeptidase A) 2" "X" "p22" "unknown" "NG_012575.1" "UD_132085282035" "" "http://www.LOVD.nl/ACE2" "" "1" "13557" "59272" "300335" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ACE2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2008-01-30 00:00:00" "00006" "2015-10-23 14:50:21" "00000" "2022-05-09 16:01:56" ## 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}}" "00000324" "ACE2" "angiotensin I converting enzyme (peptidyl-dipeptidase A) 2" "001" "NM_021804.2" "" "NP_068576.1" "" "" "" "-217" "3290" "2418" "15579156" "15620192" "00000" "2012-09-13 12:07:34" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00052372" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "?" "" "? (unknown)" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "European" "" "00052373" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "?" "" "? (unknown)" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "European" "" "00052374" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "?" "" "? (unknown)" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "European" "" "00052375" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "?" "" "? (unknown)" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "European" "" "00052376" "" "" "" "6" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "?" "" "? (unknown)" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "European" "" "00052377" "" "" "" "12" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "?" "" "? (unknown)" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "European" "" "00302609" "" "" "" "1" "" "03128" "" "" "" "" "(Italy)" "" "0" "" "" "" "" "00302610" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302611" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302612" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302613" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302614" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302615" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302616" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302617" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302618" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302619" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302620" "" "" "" "1" "" "03128" "" "" "?" "" "" "" "0" "" "" "" "" "00302621" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302622" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302623" "" "" "" "1" "" "03128" "" "" "" "" "Italy" "" "0" "" "" "" "" "00302624" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302625" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302626" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302627" "" "" "" "1" "" "03128" "" "" "?" "" "Italy" "" "0" "" "" "" "" "00302628" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302629" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" "00302630" "" "" "" "1" "" "03128" "" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00052372" "00187" "00052373" "00187" "00052374" "00187" "00052375" "00187" "00052376" "00187" "00052377" "00187" "00302609" "00000" "00302610" "00000" "00302611" "00000" "00302612" "00000" "00302613" "00000" "00302614" "00000" "00302615" "00000" "00302616" "00000" "00302617" "00000" "00302618" "00000" "00302619" "00000" "00302620" "00000" "00302621" "00000" "00302622" "00000" "00302623" "00000" "00302624" "00000" "00302625" "00000" "00302626" "00000" "00302627" "00000" "00302628" "00000" "00302629" "00000" "00302630" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00187, 01157 ## Count = 31 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038946" "00187" "00052372" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000038947" "00187" "00052373" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000038948" "00187" "00052374" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000038949" "00187" "00052375" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000038950" "00187" "00052376" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000038951" "00187" "00052377" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000229689" "00000" "00302610" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229690" "00000" "00302611" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229691" "00000" "00302612" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229692" "00000" "00302613" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229693" "00000" "00302614" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229694" "00000" "00302615" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229695" "00000" "00302616" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229696" "00000" "00302617" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229697" "00000" "00302617" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229698" "00000" "00302618" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229699" "00000" "00302619" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229700" "00000" "00302620" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229701" "00000" "00302622" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229702" "00000" "00302621" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229703" "00000" "00302622" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229704" "00000" "00302623" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229705" "00000" "00302624" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229706" "00000" "00302625" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229707" "00000" "00302626" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229708" "00000" "00302627" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229709" "00000" "00302628" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229710" "00000" "00302629" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000229711" "00000" "00302630" "03128" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000052320" "00052372" "1" "00006" "00006" "2009-01-31 16:58:03" "00006" "2015-10-23 15:19:22" "SEQ" "DNA" "" "" "0000052321" "00052373" "1" "00006" "00006" "2009-01-31 16:58:03" "00006" "2015-10-23 15:20:32" "SEQ" "DNA" "" "" "0000052322" "00052374" "1" "00006" "00006" "2009-01-31 16:58:03" "00006" "2015-10-23 15:19:53" "SEQ" "DNA" "" "" "0000052323" "00052375" "1" "00006" "00006" "2009-01-31 16:58:03" "00006" "2015-10-23 15:20:59" "SEQ" "DNA" "" "" "0000052324" "00052376" "1" "00006" "00006" "2009-01-31 16:58:03" "00006" "2015-10-23 15:21:23" "SEQ" "DNA" "" "" "0000052325" "00052377" "1" "00006" "00006" "2009-01-31 16:58:03" "00006" "2015-10-23 15:21:51" "SEQ" "DNA" "" "" "0000303732" "00302609" "1" "03128" "03128" "2020-05-26 15:51:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000303733" "00302610" "1" "03128" "03128" "2020-05-26 16:15:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000303734" "00302611" "1" "03128" "03128" "2020-05-26 16:15:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000303736" "00302613" "1" "03128" "03128" "2020-05-26 16:24:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000303737" "00302612" "1" "03128" "03128" "2020-05-26 16:25:03" "00006" "2020-05-28 14:03:38" "SEQ-NG-I" "DNA" "" "" "0000303738" "00302614" "1" "03128" "03128" "2020-05-26 16:30:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000303739" "00302615" "1" "03128" "03128" "2020-05-26 16:30:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000303740" "00302616" "1" "03128" "03128" "2020-05-26 16:33:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000303741" "00302617" "1" "03128" "03128" "2020-05-26 16:36:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000303742" "00302618" "1" "03128" "03128" "2020-05-26 16:39:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000303743" "00302619" "1" "03128" "03128" "2020-05-26 16:42:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000303744" "00302620" "1" "03128" "03128" "2020-05-26 16:42:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000303745" "00302622" "1" "03128" "03128" "2020-05-26 16:45:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000303746" "00302621" "1" "03128" "03128" "2020-05-26 16:45:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000303747" "00302623" "1" "03128" "03128" "2020-05-26 16:47:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000303748" "00302624" "1" "03128" "03128" "2020-05-26 16:49:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000303749" "00302625" "1" "03128" "03128" "2020-05-26 16:50:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000303750" "00302626" "1" "03128" "03128" "2020-05-26 16:52:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000303751" "00302627" "1" "03128" "03128" "2020-05-26 16:54:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000303752" "00302628" "1" "03128" "03128" "2020-05-26 16:54:53" "" "" "SEQ-NG-I" "DNA" "" "" "0000303753" "00302629" "1" "03128" "03128" "2020-05-26 16:57:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000303754" "00302630" "1" "03128" "03128" "2020-05-26 16:58:08" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000052320" "ACE2" "0000052321" "ACE2" "0000052322" "ACE2" "0000052323" "ACE2" "0000052324" "ACE2" "0000052325" "ACE2" "0000303732" "ACE2" "0000303733" "ACE2" "0000303734" "ACE2" "0000303736" "ACE2" "0000303737" "ACE2" "0000303738" "ACE2" "0000303739" "ACE2" "0000303740" "ACE2" "0000303741" "ACE2" "0000303742" "ACE2" "0000303743" "ACE2" "0000303744" "ACE2" "0000303745" "ACE2" "0000303746" "ACE2" "0000303747" "ACE2" "0000303748" "ACE2" "0000303749" "ACE2" "0000303750" "ACE2" "0000303751" "ACE2" "0000303752" "ACE2" "0000303753" "ACE2" "0000303754" "ACE2" ## 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 = 54 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000001805" "0" "30" "X" "15591702" "15591702" "dup" "0" "00037" "ACE2_000008" "g.15591702dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15573579dup" "" "likely benign" "" "0000002805" "20" "30" "X" "15591684" "15591684" "del" "0" "00037" "ACE2_000013" "g.15591684del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15573561del" "" "likely benign" "" "0000002806" "20" "30" "X" "15596147" "15596148" "ins" "0" "00037" "ACE2_000010" "g.15596147_15596148insGATAA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15578024_15578025insGATAA" "" "likely benign" "" "0000006389" "20" "30" "X" "15582609" "15582609" "subst" "0" "00037" "ACE2_000007" "g.15582609T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15564486T>C" "" "likely benign" "" "0000006390" "20" "30" "X" "15607650" "15607650" "subst" "0" "00037" "ACE2_000009" "g.15607650T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15589527T>C" "" "likely benign" "" "0000008449" "20" "30" "X" "15582609" "15582609" "subst" "0" "00037" "ACE2_000007" "g.15582609T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15564486T>C" "" "likely benign" "" "0000008451" "20" "30" "X" "15607650" "15607650" "subst" "0" "00037" "ACE2_000009" "g.15607650T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15589527T>C" "" "likely benign" "" "0000010809" "0" "30" "X" "15591684" "15591684" "del" "0" "00037" "ACE2_000013" "g.15591684del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15573561del" "" "likely benign" "" "0000010810" "0" "30" "X" "15591684" "15591685" "del" "0" "00037" "ACE2_000015" "g.15591684_15591685del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15573561_15573562del" "" "likely benign" "" "0000010811" "20" "30" "X" "15596147" "15596148" "ins" "0" "00037" "ACE2_000010" "g.15596147_15596148insGATAA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15578024_15578025insGATAA" "" "likely benign" "" "0000081761" "1" "50" "X" "15618958" "15618958" "subst" "0.00394089" "00006" "ACE2_000001" "g.15618958T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "rs4646116" "0" "" "" "g.15600835T>C" "" "VUS" "" "0000081762" "1" "50" "X" "15618886" "15618886" "subst" "0.00000562575" "00006" "ACE2_000005" "g.15618886T>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.15600763T>A" "" "VUS" "" "0000081763" "1" "30" "X" "15607532" "15607532" "subst" "0.00136254" "00006" "ACE2_000006" "g.15607532C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.15589409C>T" "" "likely benign" "" "0000081764" "1" "50" "X" "15591517" "15591517" "subst" "0" "00006" "ACE2_000004" "g.15591517T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.15573394T>C" "" "VUS" "" "0000081765" "1" "30" "X" "15582298" "15582298" "subst" "0.0164082" "00006" "ACE2_000002" "g.15582298T>C" "6/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 6 times" "Germline" "" "rs41303171" "0" "" "" "g.15564175T>C" "" "likely benign" "" "0000081766" "1" "30" "X" "15582209" "15582209" "subst" "0.039344" "00006" "ACE2_000003" "g.15582209C>T" "12/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V749V" "recurrent, found 12 times" "Germline" "" "rs35803318" "0" "" "" "g.15564086C>T" "" "likely benign" "" "0000261779" "0" "30" "X" "15588474" "15588474" "subst" "0.000197061" "01943" "ACE2_000017" "g.15588474C>A" "" "" "" "ACE2(NM_021804.2):c.1840G>T (p.A614S), ACE2(NM_021804.3):c.1840G>T (p.A614S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15570351C>A" "" "likely benign" "" "0000261780" "0" "50" "X" "15607508" "15607508" "subst" "0.000325158" "01943" "ACE2_000019" "g.15607508G>A" "" "" "" "ACE2(NM_021804.2):c.655C>T (p.R219C, p.(Arg219Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15589385G>A" "" "VUS" "" "0000333249" "0" "50" "X" "15607508" "15607508" "subst" "0.000325158" "01804" "ACE2_000019" "g.15607508G>A" "" "" "" "ACE2(NM_021804.2):c.655C>T (p.R219C, p.(Arg219Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15589385G>A" "" "VUS" "" "0000333250" "0" "50" "X" "15607586" "15607586" "subst" "0" "01804" "ACE2_000020" "g.15607586G>T" "" "" "" "ACE2(NM_021804.2):c.584-7C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15589463G>T" "" "VUS" "" "0000333251" "0" "50" "X" "15607597" "15607597" "dup" "0" "01804" "ACE2_000021" "g.15607597dup" "" "" "" "ACE2(NM_021804.2):c.584-8_584-7insA (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15589474dup" "" "VUS" "" "0000333254" "0" "30" "X" "15618958" "15618958" "subst" "0.00394089" "01804" "ACE2_000001" "g.15618958T>C" "" "" "" "ACE2(NM_021804.2):c.77A>G (p.(Lys26Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15600835T>C" "" "likely benign" "" "0000575065" "0" "30" "X" "15588474" "15588474" "subst" "0.000197061" "02326" "ACE2_000017" "g.15588474C>A" "" "" "" "ACE2(NM_021804.2):c.1840G>T (p.A614S), ACE2(NM_021804.3):c.1840G>T (p.A614S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15570351C>A" "" "likely benign" "" "0000619357" "0" "30" "X" "15582309" "15582309" "subst" "0.0000634832" "01943" "ACE2_000022" "g.15582309C>T" "" "" "" "ACE2(NM_021804.2):c.2147G>A (p.R716H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15564186C>T" "" "likely benign" "" "0000667117" "0" "50" "X" "15580093" "15580093" "subst" "0" "03128" "ACE2_000025" "g.15580093C>A" "" "" "" "" "" "Germline" "" "rs373153165" "0" "" "" "g.15561970C>A" "" "VUS" "" "0000667118" "0" "50" "X" "15582298" "15582298" "subst" "0.0164082" "03128" "ACE2_000002" "g.15582298T>C" "" "" "" "" "" "Germline" "" "rs41303171" "0" "" "" "g.15564175T>C" "" "VUS" "" "0000667119" "0" "50" "X" "15582235" "15582235" "subst" "0.000115487" "03128" "ACE2_000026" "g.15582235T>C" "" "" "" "" "" "Germline" "" "rs372923812" "0" "" "" "g.15564112T>C" "" "VUS" "" "0000667120" "0" "50" "X" "15584478" "15584478" "subst" "0.0000112634" "03128" "ACE2_000028" "g.15584478C>T" "" "" "" "" "" "Germline" "" "rs753705431" "0" "" "" "g.15566355C>T" "" "VUS" "" "0000667121" "0" "50" "X" "15584420" "15584420" "del" "0" "03128" "ACE2_000027" "g.15584420del" "" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.15566298del" "" "VUS" "" "0000667122" "0" "50" "X" "15590348" "15590348" "subst" "0.000242333" "03128" "ACE2_000029" "g.15590348G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15572225G>C" "" "VUS" "" "0000667123" "0" "50" "X" "15591514" "15591514" "subst" "0" "03128" "ACE2_000024" "g.15591514A>G" "" "" "" "" "" "Germline" "" "rs775181355" "0" "" "" "g.15573391A>G" "" "VUS" "" "0000667124" "0" "50" "X" "15591539" "15591539" "subst" "0" "03128" "ACE2_000030" "g.15591539A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15573416A>G" "" "VUS" "" "0000667125" "0" "50" "X" "15596320" "15596320" "subst" "0.0000112149" "03128" "ACE2_000031" "g.15596320T>C" "" "" "" "" "" "Germline" "" "rs1365935088" "0" "" "" "g.15578197T>C" "" "VUS" "" "0000667126" "0" "50" "X" "15596380" "15596380" "subst" "0" "03128" "ACE2_000033" "g.15596380C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15578257C>A" "" "VUS" "" "0000667127" "0" "50" "X" "15599428" "15599428" "subst" "0.0000282889" "03128" "ACE2_000035" "g.15599428T>C" "" "" "" "" "" "Germline" "" "rs143936283" "0" "" "" "g.15581305T>C" "" "VUS" "" "0000667128" "0" "50" "X" "15599363" "15599363" "subst" "0" "03128" "ACE2_000034" "g.15599363G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15581240G>C" "" "VUS" "" "0000667129" "0" "50" "X" "15607532" "15607532" "subst" "0.00136254" "03128" "ACE2_000006" "g.15607532C>T" "" "" "" "" "" "Germline" "" "rs148771870" "0" "" "" "g.15589409C>T" "" "VUS" "" "0000667130" "0" "50" "X" "15605887" "15605887" "subst" "0" "03128" "ACE2_000036" "g.15605887G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15587764G>C" "" "VUS" "" "0000667131" "0" "50" "X" "15610405" "15610405" "del" "0" "03128" "ACE2_000038" "g.15610405del" "" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.15592283del" "" "VUS" "" "0000667132" "0" "50" "X" "15609885" "15609885" "del" "0" "03128" "ACE2_000037" "g.15609885del" "" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.15591763del" "" "VUS" "" "0000667133" "0" "50" "X" "15613038" "15613038" "subst" "0.0000112435" "03128" "ACE2_000040" "g.15613038G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15594915G>A" "" "VUS" "" "0000667134" "0" "50" "X" "15613008" "15613008" "subst" "0.0000113086" "03128" "ACE2_000039" "g.15613008T>G" "" "" "" "" "" "Germline" "" "rs1395878099" "0" "" "" "g.15594885T>G" "" "VUS" "" "0000667135" "0" "50" "X" "15619013" "15619013" "subst" "0.0000755054" "03128" "ACE2_000042" "g.15619013G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15600890G>A" "" "VUS" "" "0000667136" "0" "50" "X" "15613119" "15613119" "subst" "0" "03128" "ACE2_000041" "g.15613119G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15594996G>A" "" "VUS" "" "0000667137" "0" "50" "X" "15596343" "15596343" "subst" "0.0000392729" "03128" "ACE2_000032" "g.15596343G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15578220G>T" "" "VUS" "" "0000667138" "0" "50" "X" "15618958" "15618958" "subst" "0.00394089" "03128" "ACE2_000001" "g.15618958T>C" "" "" "" "" "" "Germline" "" "rs4646116" "0" "" "" "g.15600835T>C" "" "VUS" "" "0000682301" "0" "30" "X" "15582235" "15582235" "subst" "0.000115487" "01943" "ACE2_000026" "g.15582235T>C" "" "" "" "ACE2(NM_021804.2):c.2221A>G (p.I741V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682302" "0" "50" "X" "15582328" "15582328" "subst" "0.0000203969" "01943" "ACE2_000043" "g.15582328G>A" "" "" "" "ACE2(NM_021804.2):c.2128C>T (p.R710C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810189" "0" "50" "X" "15603635" "15603635" "subst" "0" "01943" "ACE2_000044" "g.15603635T>G" "" "" "" "ACE2(NM_021804.2):c.863A>C (p.K288T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810191" "0" "30" "X" "15618941" "15618941" "subst" "0" "01804" "ACE2_000045" "g.15618941A>G" "" "" "" "ACE2(NM_021804.2):c.94T>C (p.(Phe32Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856482" "0" "30" "X" "15589919" "15589919" "subst" "0" "01943" "ACE2_000047" "g.15589919G>C" "" "" "" "ACE2(NM_021804.2):c.1665C>G (p.F555L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856483" "0" "30" "X" "15596345" "15596345" "subst" "0.0000673227" "01943" "ACE2_000048" "g.15596345T>C" "" "" "" "ACE2(NM_021804.2):c.1164A>G (p.Q388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867234" "0" "50" "X" "15591517" "15591517" "subst" "0" "01943" "ACE2_000004" "g.15591517T>C" "" "" "" "ACE2(NM_021804.2):c.1514A>G (p.H505R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867235" "0" "30" "X" "15603609" "15603609" "subst" "0.00000599905" "01943" "ACE2_000049" "g.15603609T>A" "" "" "" "ACE2(NM_021804.2):c.889A>T (p.M297L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ACE2 ## Count = 54 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000001805" "00000324" "30" "1443" "-97" "1443" "-97" "c.1443-97dup" "r.(=)" "p.(=)" "11i" "0000002805" "00000324" "30" "1443" "-94" "1443" "-94" "c.1443-94del" "r.(=)" "p.(=)" "11i" "0000002806" "00000324" "30" "1297" "68" "1297" "69" "c.1297+68_1297+69insCTTAT" "r.?)" "p.(=)" "10i" "0000006389" "00000324" "30" "2115" "-268" "2115" "-268" "c.2115-268A>G" "r.(?)" "p.(=)" "17i" "0000006390" "00000324" "30" "584" "-71" "584" "-71" "c.584-71A>G" "r.(?)" "p.(=)" "5i" "0000008449" "00000324" "30" "2115" "-268" "2115" "-268" "c.2115-268A>G" "r.(?)" "p.(=)" "17i" "0000008451" "00000324" "30" "584" "-71" "584" "-71" "c.584-71A>G" "r.(?)" "p.(=)" "5i" "0000010809" "00000324" "30" "1443" "-94" "1443" "-94" "c.1443-94del" "r.(=)" "p.(=)" "11i" "0000010810" "00000324" "30" "1443" "-97" "1443" "-96" "c.1443-97_1443-96del" "r.(?)" "p.(=)" "11i" "0000010811" "00000324" "30" "1297" "68" "1297" "69" "c.1297+68_1297+69insCTTAT" "r.(?)" "p.(=)" "10i" "0000081761" "00000324" "50" "77" "0" "77" "0" "c.77A>G" "r.(?)" "p.(Lys26Arg)" "2" "0000081762" "00000324" "50" "149" "0" "149" "0" "c.149A>T" "r.(?)" "p.(Tyr50Phe)" "2" "0000081763" "00000324" "30" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Gly211Arg)" "6" "0000081764" "00000324" "50" "1514" "0" "1514" "0" "c.1514A>G" "r.(?)" "p.(His505Arg)" "12" "0000081765" "00000324" "30" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Asn720Asp)" "18" "0000081766" "00000324" "30" "2247" "0" "2247" "0" "c.2247G>A" "r.(?)" "p.(Val749=)" "18" "0000261779" "00000324" "30" "1840" "0" "1840" "0" "c.1840G>T" "r.(?)" "p.(Ala614Ser)" "" "0000261780" "00000324" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Cys)" "" "0000333249" "00000324" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Cys)" "" "0000333250" "00000324" "50" "584" "-7" "584" "-7" "c.584-7C>A" "r.(=)" "p.(=)" "" "0000333251" "00000324" "50" "584" "-8" "584" "-8" "c.584-8dup" "r.(=)" "p.(=)" "" "0000333254" "00000324" "30" "77" "0" "77" "0" "c.77A>G" "r.(?)" "p.(Lys26Arg)" "" "0000575065" "00000324" "30" "1840" "0" "1840" "0" "c.1840G>T" "r.(?)" "p.(Ala614Ser)" "" "0000619357" "00000324" "30" "2147" "0" "2147" "0" "c.2147G>A" "r.(?)" "p.(Arg716His)" "" "0000667117" "00000324" "50" "2353" "0" "2353" "0" "c.2353G>T" "r.(?)" "p.(Asp785Tyr)" "19" "0000667118" "00000324" "50" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Asn720Asp)" "" "0000667119" "00000324" "50" "2221" "0" "2221" "0" "c.2221A>G" "r.(?)" "p.(Ile741Val)" "" "0000667120" "00000324" "50" "2012" "0" "2012" "0" "c.2012G>A" "r.(?)" "p.(Arg671Gln)" "" "0000667121" "00000324" "50" "2069" "0" "2069" "0" "c.2069del" "r.(?)" "p.(Asn690Metfs*28)" "" "0000667122" "00000324" "50" "1640" "0" "1640" "0" "c.1640C>G" "r.(?)" "p.(Ser547Cys)" "" "0000667123" "00000324" "50" "1517" "0" "1517" "0" "c.1517T>C" "r.(?)" "p.(Val506Ala)" "" "0000667124" "00000324" "50" "1492" "0" "1492" "0" "c.1492T>C" "r.(?)" "p.(Cys498Arg)" "" "0000667125" "00000324" "50" "1189" "0" "1189" "0" "c.1189A>G" "r.(?)" "p.(Asn397Asp)" "" "0000667126" "00000324" "50" "1129" "0" "1129" "0" "c.1129G>T" "r.(?)" "p.(Gly377Trp)" "" "0000667127" "00000324" "50" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Glu329Gly)" "" "0000667128" "00000324" "50" "1051" "0" "1051" "0" "c.1051C>G" "r.(?)" "p.(Leu351Val)" "" "0000667129" "00000324" "50" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Gly211Arg)" "" "0000667130" "00000324" "50" "791" "0" "791" "0" "c.791C>G" "r.(?)" "p.(Ala264Gly)" "" "0000667131" "00000324" "50" "385" "0" "385" "0" "c.385del" "r.(?)" "p.(Thr129Leufs*20)" "" "0000667132" "00000324" "50" "533" "0" "533" "0" "c.533del" "r.(?)" "p.(Pro178Hisfs*9)" "" "0000667133" "00000324" "50" "275" "0" "275" "0" "c.275C>T" "r.(?)" "p.(Thr92Ile)" "" "0000667134" "00000324" "50" "305" "0" "305" "0" "c.305A>C" "r.(?)" "p.(Gln102Pro)" "" "0000667135" "00000324" "50" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Leu8Phe)" "" "0000667136" "00000324" "50" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Ala65Val)" "" "0000667137" "00000324" "50" "1166" "0" "1166" "0" "c.1166C>A" "r.(?)" "p.(Pro389His)" "" "0000667138" "00000324" "50" "77" "0" "77" "0" "c.77A>G" "r.(?)" "p.(Lys26Arg)" "" "0000682301" "00000324" "30" "2221" "0" "2221" "0" "c.2221A>G" "r.(?)" "p.(Ile741Val)" "" "0000682302" "00000324" "50" "2128" "0" "2128" "0" "c.2128C>T" "r.(?)" "p.(Arg710Cys)" "" "0000810189" "00000324" "50" "863" "0" "863" "0" "c.863A>C" "r.(?)" "p.(Lys288Thr)" "" "0000810191" "00000324" "30" "94" "0" "94" "0" "c.94T>C" "r.(?)" "p.(Phe32Leu)" "" "0000856482" "00000324" "30" "1665" "0" "1665" "0" "c.1665C>G" "r.(?)" "p.(Phe555Leu)" "" "0000856483" "00000324" "30" "1164" "0" "1164" "0" "c.1164A>G" "r.(?)" "p.(Gln388=)" "" "0000867234" "00000324" "50" "1514" "0" "1514" "0" "c.1514A>G" "r.(?)" "p.(His505Arg)" "" "0000867235" "00000324" "30" "889" "0" "889" "0" "c.889A>T" "r.(?)" "p.(Met297Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001805" "0000000209" "0000002805" "0000000209" "0000002806" "0000000209" "0000006389" "0000000209" "0000006390" "0000000210" "0000008449" "0000000210" "0000008451" "0000000210" "0000010809" "0000000210" "0000010810" "0000000210" "0000010811" "0000052320" "0000081761" "0000052321" "0000081762" "0000052322" "0000081763" "0000052323" "0000081764" "0000052324" "0000081765" "0000052325" "0000081766" "0000303732" "0000667117" "0000303733" "0000667118" "0000303734" "0000667119" "0000303736" "0000667121" "0000303737" "0000667120" "0000303738" "0000667122" "0000303739" "0000667123" "0000303740" "0000667124" "0000303741" "0000667125" "0000303742" "0000667126" "0000303743" "0000667127" "0000303744" "0000667128" "0000303745" "0000667129" "0000303746" "0000667130" "0000303747" "0000667132" "0000303748" "0000667131" "0000303749" "0000667134" "0000303750" "0000667133" "0000303751" "0000667135" "0000303752" "0000667136" "0000303753" "0000667138" "0000303754" "0000667137"