### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACE) # 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}}" "ACE" "angiotensin I converting enzyme (peptidyl-dipeptidase A) 1" "17" "q23.3" "unknown" "NC_000017.10" "UD_132084462416" "" "https://www.LOVD.nl/ACE" "" "1" "2707" "1636" "106180" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/ACE_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2025-11-19 08:35:57" "00006" "2025-11-19 08:34:18" ## 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}}" "00001958" "ACE" "transcript variant 1" "001" "NM_000789.3" "" "NP_000780.1" "" "" "" "-34" "4935" "3921" "61554422" "61575741" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00254" "RTD" "dysgenesis, renal tubular (RTD)" "AR" "267430" "" "" "" "00006" "2013-10-20 21:21:05" "00006" "2021-12-10 21:51:32" "00255" "MVCD3" "microvascular complications of diabetes, susceptibility, type 3" "" "612624" "" "" "" "00006" "2013-10-20 21:22:41" "00006" "2025-11-19 08:36:54" "00256" "ICH" "hemorrhage, intracerebral, susceptibility to (ICH)" "" "614519" "" "" "" "00006" "2013-10-20 21:24:24" "00006" "2016-07-05 08:24:40" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "02963" "HAE3" "angioedema, hereditary, type 3" "AD" "610618" "" "" "" "00006" "2014-09-25 23:29:40" "03256" "2025-04-09 18:11:52" "06943" "HAE6" "angioedema, hereditary, type 6" "AD" "619363" "" "" "" "00006" "2022-07-07 09:17:42" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ACE" "00254" "ACE" "00255" "ACE" "00256" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00003990" "" "" "" "1" "" "00155" "{PMID:Uematsu 2009:18478260}" "" "" "?" "Japan" "" "" "" "" "" "" "00003991" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Cote D\'Ivoire (Ivory Coast)" "" "" "" "" "" "" "00003992" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Norway" "" "" "" "" "" "" "00003993" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Tunisia" "" "" "" "" "" "" "00003994" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Cote D\'Ivoire (Ivory Coast)" "" "" "" "" "" "" "00003995" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Italy" "" "" "" "" "" "" "00003996" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Italy" "" "" "" "" "" "" "00003997" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Spain" "" "" "" "" "" "" "00003998" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "" "" "" "" "" "North Africa" "" "00003999" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "United Kingdom (Great Britain)" "" "" "" "" "" "" "00004000" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Pakistan" "" "" "" "" "" "" "00004001" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Turkey" "" "" "" "" "" "" "00004002" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "" "" "" "" "" "Europe" "" "00004003" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Turkey" "" "" "" "" "" "" "00004004" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Finland" "" "" "" "" "" "" "00004005" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Cote D\'Ivoire (Ivory Coast)" "" "" "" "" "" "" "00004006" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Finland" "" "" "" "" "" "" "00004007" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Finland" "" "" "" "" "" "" "00004008" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Denmark" "" "" "" "" "" "" "00004009" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "United Kingdom (Great Britain)" "" "" "" "" "" "" "00004010" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "France" "" "" "" "" "" "" "00004012" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Switzerland" "" "" "" "" "" "" "00004013" "" "" "" "1" "" "00155" "{PMID:Danilov 2010:20454656}" "" "" "?" "Portugal" "" "" "" "" "" "" "00004014" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "France" "" "" "" "" "" "" "00004015" "" "" "" "1" "" "00155" "" "" "" "?" "France;Italy" "" "" "" "" "" "" "00004017" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "France;Canada" "" "" "" "" "" "" "00004018" "" "" "" "1" "" "00155" "{PMID:Gribouval 2005:16116425}" "" "" "?" "Turkey" "" "" "" "" "" "" "00004019" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "Australia" "" "" "" "" "" "" "00004020" "" "" "" "1" "" "00155" "{PMID:Gribouval 2005:16116425}" "" "" "?" "" "" "" "" "" "Europe" "" "00004040" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "United States" "" "" "" "" "" "" "00004041" "" "" "" "1" "" "00155" "{PMID:Gibrouval 2012:22095942}" "" "" "?" "France" "" "" "" "" "" "" "00080802" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00361887" "" "" "" "3" "" "03256" "{PMID:Loules 2020:33114181}, {DOI:Loules 2020:10.3390/jcm9113402}" "3-generation family, 4 carriers (4 males), 3 affected individuals\r\nThe son of the proband had only one attack during his lifetime, he is carrier of KNG1 c.1720C>G variant, but not of the ACE c.1459C>T variant." "M" "" "Italy" "" "0" "" "" "" "family" "00362248" "" "" "" "2" "" "03256" "" "" "F" "no" "France" "" "0" "" "" "" "" "00374102" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" "" "00427971" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, affected fetus (died 38w)" "" "" "Australia" "" "0" "" "" "" "A009" "00469574" "" "" "" "1" "" "04922" "" "" "" "" "(Oman)" "" "" "" "" "Omani" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00003990" "00254" "00003991" "00254" "00003992" "00254" "00003993" "00254" "00003994" "00254" "00003995" "00254" "00003996" "00254" "00003997" "00254" "00003998" "00254" "00003999" "00254" "00004000" "00254" "00004001" "00254" "00004002" "00254" "00004003" "00254" "00004004" "00254" "00004005" "00254" "00004006" "00254" "00004007" "00254" "00004008" "00254" "00004009" "00254" "00004010" "00254" "00004012" "00254" "00004013" "00254" "00004014" "00254" "00004015" "00254" "00004017" "00254" "00004018" "00254" "00004019" "00254" "00004020" "00254" "00004040" "00254" "00004041" "00254" "00080802" "00254" "00361887" "06943" "00362248" "02963" "00374102" "00198" "00427971" "00198" "00469574" "00259" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00254, 00255, 00256, 00259, 02963, 06943 ## Count = 36 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000002785" "00254" "00003990" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002786" "00254" "00003991" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002787" "00254" "00003992" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002788" "00254" "00003993" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002789" "00254" "00003994" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002790" "00254" "00003995" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002791" "00254" "00003996" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002792" "00254" "00003997" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002793" "00254" "00003998" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002794" "00254" "00003999" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002795" "00254" "00004000" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002796" "00254" "00004001" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002797" "00254" "00004002" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002798" "00254" "00004003" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002799" "00254" "00004004" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002800" "00254" "00004005" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002801" "00254" "00004006" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002802" "00254" "00004007" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002803" "00254" "00004008" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002804" "00254" "00004009" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002805" "00254" "00004010" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002806" "00254" "00004012" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002808" "00254" "00004013" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002809" "00254" "00004014" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002810" "00254" "00004015" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002812" "00254" "00004017" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002813" "00254" "00004018" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002814" "00254" "00004019" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002815" "00254" "00004020" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002835" "00254" "00004040" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000002836" "00254" "00004041" "00155" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060371" "00254" "00080802" "01758" "Familial, autosomal recessive" "" "Renal tubular dysgenesis (OMIM:267430)" "" "" "" "" "" "" "" "" "" "" "" "0000257281" "02963" "00361887" "03256" "Familial" "" "Proband and his son presenting with a classical HAE phenotype, whereas the second son experiencing a single attack following a viral infection" "" "" "" "" "" "" "" "" "" "" "" "0000257662" "02963" "00362248" "03256" "Familial" "" "Probands presenting with angioedema (normal C1 Inhibitor) associated with chronic urticaria" "" "" "" "" "" "" "" "" "" "" "" "0000269313" "00198" "00374102" "00006" "Familial, autosomal recessive" "<0d" "29w-fetus, ultrasound Oligohydramnios; autopsy Potter’s sequence, proximal tubule agenesis, poor biliary ducts, renal hypoplasia; Poor biliary ducts" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000318917" "00198" "00427971" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Renal tubular dysgenesis" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003911" "00003990" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003912" "00003991" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003913" "00003992" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003914" "00003993" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003915" "00003994" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003916" "00003995" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003917" "00003996" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003918" "00003997" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003919" "00003998" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003920" "00003999" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003921" "00004000" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003922" "00004001" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003923" "00004002" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "arraySNP" "DNA" "" "" "0000003924" "00004003" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003925" "00004004" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003926" "00004005" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003927" "00004006" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003928" "00004007" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003929" "00004008" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003930" "00004009" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003931" "00004010" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003933" "00004012" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003934" "00004013" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003935" "00004014" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003936" "00004015" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003938" "00004017" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003939" "00004018" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003940" "00004019" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003941" "00004020" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003961" "00004040" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000003962" "00004041" "1" "00155" "00006" "2011-10-24 22:40:19" "" "" "SEQ" "DNA" "" "" "0000080914" "00080802" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000363116" "00361887" "1" "03256" "03256" "2021-04-11 21:07:25" "" "" "SEQ-NG-IT" "DNA" "" "" "0000363477" "00362248" "1" "03256" "03256" "2021-04-17 10:31:00" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000375295" "00374102" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000429384" "00427971" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood, fibroblasts, urothelial cells" "duo WES" "0000471242" "00469574" "1" "04922" "04922" "2025-11-18 11:56:22" "" "" "ARMS" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{geneid}}" "0000003911" "ACE" "0000003912" "ACE" "0000003913" "ACE" "0000003914" "ACE" "0000003915" "ACE" "0000003916" "ACE" "0000003917" "ACE" "0000003918" "ACE" "0000003919" "ACE" "0000003920" "ACE" "0000003921" "ACE" "0000003922" "ACE" "0000003923" "ACE" "0000003924" "ACE" "0000003925" "ACE" "0000003926" "ACE" "0000003927" "ACE" "0000003928" "ACE" "0000003929" "ACE" "0000003930" "ACE" "0000003931" "ACE" "0000003933" "ACE" "0000003934" "ACE" "0000003935" "ACE" "0000003936" "ACE" "0000003938" "ACE" "0000003939" "ACE" "0000003940" "ACE" "0000003941" "ACE" "0000003961" "ACE" "0000003962" "ACE" "0000080914" "ACE" "0000363116" "KNG1" "0000363477" "ACE" "0000375295" "ACE" "0000471242" "ACE" ## 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 = 165 "{{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}}" "0000022735" "1" "95" "17" "61554468" "61554477" "del" "0" "00155" "ACE_000031" "g.61554468_61554477del" "" "{PMID:Uematsu 2009:18478260}" "" "13_22del10" "" "Germline" "" "" "" "" "" "g.63477107_63477116del" "" "pathogenic" "" "0000022736" "11" "95" "17" "61566074" "61566074" "subst" "1.62434E-5" "00155" "ACE_000001" "g.61566074C>T" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63488713C>T" "" "pathogenic" "" "0000022737" "11" "95" "17" "61559010" "61559010" "subst" "0" "00155" "ACE_000002" "g.61559010G>A" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63481649G>A" "" "pathogenic" "" "0000022738" "11" "95" "17" "61554493" "61554504" "del" "3.36067E-5" "00155" "ACE_000004" "g.61554493_61554504del" "" "{PMID:Gibrouval 2012:22095942}" "" "38_49del12" "" "Germline" "" "" "" "" "" "g.63477132_63477143del" "" "pathogenic" "" "0000022739" "11" "95" "17" "61554476" "61554485" "del" "0" "00155" "ACE_000005" "g.61554476_61554485del" "" "{PMID:Gibrouval 2012:22095942}" "" "21_30del10" "" "Germline" "" "" "" "" "" "g.63477115_63477124del" "" "pathogenic" "" "0000022740" "11" "95" "17" "61561721" "61561721" "del" "0" "00155" "ACE_000007" "g.61561721del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63484360del" "" "pathogenic" "" "0000022741" "11" "95" "17" "61564021" "61564022" "del" "0" "00155" "ACE_000009" "g.61564021_61564022del" "" "{PMID:Gibrouval 2012:22095942}" "" "2161_2162delTA" "" "Germline" "" "" "" "" "" "g.63486660_63486661del" "" "pathogenic" "" "0000022742" "11" "95" "17" "61573878" "61573878" "subst" "2.03285E-5" "00155" "ACE_000011" "g.61573878G>A" "" "{PMID:Gibrouval 2012:22095942}" "" "" "abnormal splicing" "Germline" "" "" "" "" "" "g.63496517G>A" "" "pathogenic" "" "0000022743" "11" "95" "17" "61554517" "61554517" "subst" "0" "00155" "ACE_000012" "g.61554517T>C" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63477156T>C" "" "pathogenic" "" "0000022744" "11" "95" "17" "61574176" "61574176" "del" "0" "00155" "ACE_000003" "g.61574176del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496815del" "" "pathogenic" "" "0000022745" "11" "95" "17" "61554502" "61554525" "del" "0" "00155" "ACE_000014" "g.61554502_61554525del" "" "{PMID:Gibrouval 2012:22095942}" "" "47_70del24" "" "Germline" "" "" "" "" "" "g.63477141_63477164del" "" "pathogenic" "" "0000022746" "11" "95" "17" "61559009" "61559009" "subst" "8.12532E-6" "00155" "ACE_000015" "g.61559009G>A" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63481648G>A" "" "pathogenic" "" "0000022747" "11" "90" "17" "61563917" "61564435" "del" "0" "00155" "ACE_000016" "g.(61562734_61563917)_(61564435_61566008)del" "" "{PMID:Gibrouval 2012:22095942}" "" "2059-?_2305+?del, del ex14-15" "" "Germline" "" "" "0" "" "" "g.(63485373_63486556)_(63487074_63488647)del" "" "pathogenic" "" "0000022748" "11" "95" "17" "61561848" "61561848" "subst" "0" "00155" "ACE_000017" "g.61561848T>C" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63484487T>C" "" "pathogenic" "" "0000022749" "11" "95" "17" "61574176" "61574176" "del" "0" "00155" "ACE_000003" "g.61574176del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496815del" "" "pathogenic" "" "0000022750" "11" "95" "17" "61554493" "61554498" "del" "0" "00155" "ACE_000018" "g.61554493_61554498del" "" "{PMID:Gibrouval 2012:22095942}" "" "38_43del6" "" "Germline" "" "" "" "" "" "g.63477132_63477137del" "" "pathogenic" "" "0000022751" "11" "95" "17" "61574176" "61574176" "del" "0" "00155" "ACE_000003" "g.61574176del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496815del" "" "pathogenic" "" "0000022752" "11" "95" "17" "61574176" "61574176" "del" "0" "00155" "ACE_000003" "g.61574176del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496815del" "" "pathogenic" "" "0000022753" "11" "95" "17" "61574176" "61574176" "del" "0" "00155" "ACE_000003" "g.61574176del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496815del" "" "pathogenic" "" "0000022754" "11" "95" "17" "61559009" "61559012" "dup" "0" "00155" "ACE_000020" "g.61559009_61559012dup" "" "{PMID:Gibrouval 2012:22095942}" "" "1028_1031dupGGGA" "" "Germline" "" "" "" "" "" "g.63481648_63481651dup" "" "pathogenic" "" "0000022755" "11" "95" "17" "61566422" "61566422" "subst" "2.84634E-5" "00155" "ACE_000021" "g.61566422G>A" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63489061G>A" "" "pathogenic" "" "0000022756" "11" "95" "17" "61560533" "61560533" "subst" "1.21888E-5" "00155" "ACE_000024" "g.61560533C>T" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63483172C>T" "" "pathogenic" "" "0000022757" "11" "95" "17" "61571744" "61571744" "subst" "0" "00155" "ACE_000025" "g.61571744A>G" "" "{PMID:Danilov 2010:20454656}" "" "Q1069R" "" "Germline" "" "" "" "" "" "g.63494383A>G" "" "pathogenic" "" "0000022758" "11" "95" "17" "61561784" "61561784" "del" "8.22267E-6" "00155" "ACE_000010" "g.61561784del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63484423del" "" "pathogenic" "" "0000022760" "11" "95" "17" "61557840" "61557840" "subst" "2.03125E-5" "00155" "ACE_000027" "g.61557840C>G" "" "{PMID:Gribouval 2005:16116425}" "" "" "" "Germline" "" "" "" "" "" "g.63480479C>G" "" "pathogenic" "" "0000022761" "11" "95" "17" "61554502" "61554525" "del" "0" "00155" "ACE_000014" "g.61554502_61554525del" "" "{PMID:Gibrouval 2012:22095942}" "" "47_70del24" "" "Germline" "" "" "" "" "" "g.63477141_63477164del" "" "pathogenic" "" "0000022762" "11" "95" "17" "61560027" "61560030" "del" "0" "00155" "ACE_000029" "g.61560027_61560030del" "" "{PMID:Gribouval 2005:16116425}" "" "1319_1322delTGGA" "" "Germline" "" "" "" "" "" "g.63482666_63482669del" "" "pathogenic" "" "0000022763" "11" "95" "17" "61564008" "61564009" "del" "0" "00155" "ACE_000030" "g.61564008_61564009del" "" "{PMID:Gibrouval 2012:22095942}" "" "2149_2150delAT" "" "Germline" "" "" "" "" "" "g.63486647_63486648del" "" "pathogenic" "" "0000022764" "11" "95" "17" "61557840" "61557840" "subst" "2.03125E-5" "00155" "ACE_000027" "g.61557840C>G" "" "{PMID:Gribouval 2005:16116425}" "" "" "" "Germline" "" "" "" "" "" "g.63480479C>G" "" "pathogenic" "" "0000022765" "2" "95" "17" "61574169" "61574204" "del" "0" "00155" "ACE_000032" "g.61574169_61574204del" "" "{PMID:Uematsu 2009:18478260}" "" "3508_3543del36" "" "Germline" "" "" "" "" "" "g.63496808_63496843del" "" "pathogenic" "" "0000022766" "21" "95" "17" "61566074" "61566074" "subst" "1.62434E-5" "00155" "ACE_000001" "g.61566074C>T" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63488713C>T" "" "pathogenic" "" "0000022767" "21" "95" "17" "61574176" "61574176" "del" "0" "00155" "ACE_000003" "g.61574176del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496815del" "" "pathogenic" "" "0000022768" "21" "95" "17" "61554493" "61554504" "del" "3.36067E-5" "00155" "ACE_000004" "g.61554493_61554504del" "" "{PMID:Gibrouval 2012:22095942}" "" "38_49del12" "" "Germline" "" "" "" "" "" "g.63477132_63477143del" "" "pathogenic" "" "0000022769" "21" "95" "17" "61554476" "61554485" "del" "0" "00155" "ACE_000005" "g.61554476_61554485del" "" "{PMID:Gibrouval 2012:22095942}" "" "21_30del10" "" "Germline" "" "" "" "" "" "g.63477115_63477124del" "" "pathogenic" "" "0000022770" "21" "95" "17" "61558963" "61558965" "del" "0" "00155" "ACE_000006" "g.61558963_61558965del" "" "{PMID:Gibrouval 2012:22095942}" "" "982_984delGAG" "" "Germline" "" "" "" "" "" "g.63481602_63481604del" "" "pathogenic" "" "0000022771" "21" "95" "17" "61557835" "61557835" "subst" "1.21855E-5" "00155" "ACE_000008" "g.61557835C>T" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63480474C>T" "" "pathogenic" "" "0000022772" "21" "95" "17" "61561784" "61561784" "del" "8.22267E-6" "00155" "ACE_000010" "g.61561784del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63484423del" "" "pathogenic" "" "0000022773" "21" "95" "17" "61554517" "61554517" "subst" "0" "00155" "ACE_000012" "g.61554517T>C" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63477156T>C" "" "pathogenic" "" "0000022774" "21" "95" "17" "61560855" "61560855" "subst" "3.24884E-5" "00155" "ACE_000013" "g.61560855C>T" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63483494C>T" "" "pathogenic" "" "0000022775" "21" "95" "17" "61554502" "61554525" "del" "0" "00155" "ACE_000014" "g.61554502_61554525del" "" "{PMID:Gibrouval 2012:22095942}" "" "47_70del24" "" "Germline" "" "" "" "" "" "g.63477141_63477164del" "" "pathogenic" "" "0000022776" "21" "95" "17" "61559009" "61559009" "subst" "8.12532E-6" "00155" "ACE_000015" "g.61559009G>A" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63481648G>A" "" "pathogenic" "" "0000022777" "21" "95" "17" "61557835" "61557835" "subst" "1.21855E-5" "00155" "ACE_000008" "g.61557835C>T" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63480474C>T" "" "pathogenic" "" "0000022778" "21" "95" "17" "61561848" "61561848" "subst" "0" "00155" "ACE_000017" "g.61561848T>C" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63484487T>C" "" "pathogenic" "" "0000022779" "21" "95" "17" "61574176" "61574176" "del" "0" "00155" "ACE_000003" "g.61574176del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496815del" "" "pathogenic" "" "0000022780" "21" "95" "17" "61554493" "61554498" "del" "0" "00155" "ACE_000018" "g.61554493_61554498del" "" "{PMID:Gibrouval 2012:22095942}" "" "38_43del6" "" "Germline" "" "" "" "" "" "g.63477132_63477137del" "" "pathogenic" "" "0000022781" "21" "95" "17" "61574176" "61574176" "del" "0" "00155" "ACE_000003" "g.61574176del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496815del" "" "pathogenic" "" "0000022782" "21" "95" "17" "61574176" "61574176" "del" "0" "00155" "ACE_000003" "g.61574176del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496815del" "" "pathogenic" "" "0000022783" "21" "95" "17" "61574176" "61574176" "del" "0" "00155" "ACE_000003" "g.61574176del" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496815del" "" "pathogenic" "" "0000022784" "21" "95" "17" "61556394" "61556395" "ins" "0" "00155" "ACE_000019" "g.61556394_61556395insTTAGC" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63479033_63479034insTTAGC" "" "pathogenic" "" "0000022785" "21" "95" "17" "61573867" "61573867" "subst" "0" "00155" "ACE_000022" "g.61573867C>T" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496506C>T" "" "pathogenic" "" "0000022788" "21" "95" "17" "61560533" "61560533" "subst" "1.21888E-5" "00155" "ACE_000024" "g.61560533C>T" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63483172C>T" "" "pathogenic" "" "0000022789" "21" "95" "17" "61571744" "61571744" "subst" "0" "00155" "ACE_000025" "g.61571744A>G" "" "{PMID:Danilov 2010:20454656}" "" "" "" "Germline" "" "" "" "" "" "g.63494383A>G" "" "pathogenic" "" "0000022790" "21" "95" "17" "61574281" "61574281" "subst" "4.08553E-6" "00155" "ACE_000026" "g.61574281G>C" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63496920G>C" "" "pathogenic" "" "0000022793" "21" "95" "17" "61554502" "61554525" "del" "0" "00155" "ACE_000014" "g.61554502_61554525del" "" "{PMID:Gibrouval 2012:22095942}" "" "47_70del24" "" "Germline" "" "" "" "" "" "g.63477141_63477164del" "" "pathogenic" "" "0000022794" "21" "95" "17" "61560027" "61560030" "del" "0" "00155" "ACE_000029" "g.61560027_61560030del" "" "{PMID:Gribouval 2005:16116425}" "" "1319_1322delTGGA" "" "Germline" "" "" "" "" "" "g.63482666_63482669del" "" "pathogenic" "" "0000022795" "21" "95" "17" "61554502" "61554525" "del" "0" "00155" "ACE_000014" "g.61554502_61554525del" "" "{PMID:Gibrouval 2012:22095942}" "" "47_70del24" "" "Germline" "" "" "" "" "" "g.63477141_63477164del" "" "pathogenic" "" "0000022796" "21" "95" "17" "61556394" "61556395" "ins" "0" "00155" "ACE_000019" "g.61556394_61556395insTTAGC" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63479033_63479034insTTAGC" "" "pathogenic" "" "0000022833" "0" "55" "17" "0" "0" "" "0" "00006" "ACE_000000" "g.?" "" "" "" "" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000022838" "10" "55" "17" "0" "0" "" "0" "00155" "ACE_000000" "g.?" "" "" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000022839" "21" "95" "17" "61558979" "61558979" "subst" "1.21897E-5" "00155" "ACE_000023" "g.61558979T>A" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63481618T>A" "" "pathogenic" "" "0000022840" "10" "55" "17" "0" "0" "" "0" "00155" "ACE_000000" "g.?" "" "" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000022841" "21" "95" "17" "61557818" "61557818" "subst" "1.2187E-5" "00155" "ACE_000028" "g.61557818G>A" "" "{PMID:Gibrouval 2012:22095942}" "" "" "" "Germline" "" "" "" "" "" "g.63480457G>A" "" "pathogenic" "" "0000048396" "1" "90" "17" "61565904" "61565905" "ins" "0" "00006" "ACE_000033" "g.61565904_61565905ins[X62855.1:g.1465_1752]" "" "{PMID:Rigat 1992:1313972}, {OMIM106180:0001}" "" "I allele" "ACE-I allele of insertion (I)/deletion (D) polymorphism; insertion in ClinVar described based on AF118569.1 (correct is insAF118569:g.14106_14394)" "Germline" "yes" "rs1799752" "0" "" "" "g.63488543_63488544ins[X62855.1:g.1465_1752]" "" "benign (!)" "" "0000129995" "11" "90" "17" "61557835" "61557835" "subst" "1.21855E-5" "01758" "ACE_000008" "g.61557835C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.63480474C>T" "" "pathogenic" "ACMG" "0000129996" "21" "70" "17" "61560920" "61560920" "subst" "0" "01758" "ACE_000034" "g.61560920G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.63483559G>A" "" "likely pathogenic" "ACMG" "0000249227" "0" "10" "17" "61565998" "61565998" "subst" "0.500224" "02325" "ACE_000050" "g.61565998A>C" "" "" "" "ACE(NM_000789.4):c.2306-11A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63488637A>C" "" "benign" "" "0000251168" "0" "10" "17" "61557773" "61557773" "subst" "0.0107257" "02326" "ACE_000039" "g.61557773A>G" "" "" "" "ACE(NM_000789.4):c.731A>G (p.Y244C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63480412A>G" "" "benign" "" "0000258893" "0" "10" "17" "61559923" "61559923" "subst" "0.456219" "02325" "ACE_000044" "g.61559923C>T" "" "" "" "ACE(NM_000789.4):c.1215C>T (p.P405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63482562C>T" "" "benign" "" "0000258894" "0" "10" "17" "61562493" "61562493" "dup" "0" "02325" "ACE_000048" "g.61562493dup" "" "" "" "ACE(NM_000789.4):c.1922-104dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63485132dup" "" "benign" "" "0000258895" "0" "10" "17" "61565990" "61565990" "subst" "0.500167" "02325" "ACE_000049" "g.61565990G>C" "" "" "" "ACE(NM_000789.4):c.2306-19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63488629G>C" "" "benign" "" "0000258896" "0" "10" "17" "61566031" "61566031" "subst" "0.531452" "02325" "ACE_000051" "g.61566031G>A" "" "" "" "ACE(NM_000789.4):c.2328G>A (p.T776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63488670G>A" "" "benign" "" "0000258897" "0" "10" "17" "61573761" "61573761" "subst" "0.52042" "02325" "ACE_000054" "g.61573761T>C" "" "" "" "ACE(NM_000789.4):c.3387T>C (p.F1129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63496400T>C" "" "benign" "" "0000258898" "0" "10" "17" "61574492" "61574492" "subst" "0.519718" "02325" "ACE_000056" "g.61574492G>A" "" "" "" "ACE(NM_000789.4):c.3692-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63497131G>A" "" "benign" "" "0000258899" "0" "10" "17" "61562309" "61562309" "subst" "0.493513" "02325" "ACE_000046" "g.61562309C>T" "" "" "" "ACE(NM_152830.3):c.81C>T (p.P27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63484948C>T" "" "benign" "" "0000260487" "0" "10" "17" "61554669" "61554669" "subst" "0" "02326" "ACE_000036" "g.61554669G>A" "" "" "" "ACE(NM_000789.4):c.214G>A (p.D72N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63477308G>A" "" "benign" "" "0000260488" "0" "10" "17" "61554686" "61554686" "subst" "0.00850352" "02326" "ACE_000037" "g.61554686G>A" "" "" "" "ACE(NM_000789.4):c.231G>A (p.A77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63477325G>A" "" "benign" "" "0000260489" "0" "10" "17" "61574642" "61574642" "subst" "0.00407729" "02326" "ACE_000057" "g.61574642G>A" "" "" "" "ACE(NM_000789.4):c.3836G>A (p.R1279Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63497281G>A" "" "benign" "" "0000260490" "0" "10" "17" "61557920" "61557920" "subst" "0.00404195" "02326" "ACE_000040" "g.61557920C>T" "" "" "" "ACE(NM_000789.4):c.847+31C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63480559C>T" "" "benign" "" "0000261773" "0" "30" "17" "61560917" "61560917" "subst" "0" "01943" "ACE_000045" "g.61560917C>A" "" "" "" "ACE(NM_000789.3):c.1584C>A (p.I528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63483556C>A" "" "likely benign" "" "0000261774" "0" "10" "17" "61571755" "61571755" "subst" "0.000650264" "01943" "ACE_000052" "g.61571755C>A" "" "" "" "ACE(NM_000789.3):c.3304C>A (p.P1102T), ACE(NM_000789.4):c.3304C>A (p.P1102T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63494394C>A" "" "benign" "" "0000261775" "0" "50" "17" "61571831" "61571831" "subst" "0" "01943" "ACE_000053" "g.61571831G>A" "" "" "" "ACE(NM_000789.3):c.3380G>A (p.R1127K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63494470G>A" "" "VUS" "" "0000261776" "0" "50" "17" "61574311" "61574311" "subst" "0.000476641" "01943" "ACE_000055" "g.61574311T>C" "" "" "" "ACE(NM_000789.3):c.3656T>C (p.L1219P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63496950T>C" "" "VUS" "" "0000261777" "0" "10" "17" "61574675" "61574675" "subst" "0.00139164" "01943" "ACE_000058" "g.61574675G>A" "" "" "" "ACE(NM_000789.3):c.3869G>A (p.R1290Q), ACE(NM_000789.4):c.3869G>A (p.R1290Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63497314G>A" "" "benign" "" "0000261778" "0" "30" "17" "61558941" "61558941" "subst" "0.000573829" "01943" "ACE_000041" "g.61558941G>A" "" "" "" "ACE(NM_000789.3):c.960G>A (p.T320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63481580G>A" "" "likely benign" "" "0000325550" "0" "50" "17" "61554505" "61554510" "dup" "0" "01804" "ACE_000035" "g.61554505_61554510dup" "" "" "" "ACE(NM_000789.3):c.38_39insGCTGCC (p.(Leu13_Leu14insLeuPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63477144_63477149dup" "" "VUS" "" "0000562605" "0" "50" "17" "61556415" "61556415" "subst" "0.000321619" "01804" "ACE_000060" "g.61556415G>C" "" "" "" "ACE(NM_000789.3):c.465G>C (p.(Lys155Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63479054G>C" "" "VUS" "" "0000562608" "0" "50" "17" "61557841" "61557841" "subst" "0.000329078" "01804" "ACE_000062" "g.61557841G>A" "" "" "" "ACE(NM_000789.3):c.799G>A (p.(Gly267Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63480480G>A" "" "VUS" "" "0000562609" "0" "30" "17" "61558951" "61558951" "subst" "0.00196447" "01804" "ACE_000063" "g.61558951C>T" "" "" "" "ACE(NM_000789.3):c.970C>T (p.(Arg324Trp)), ACE(NM_000789.4):c.970C>T (p.R324W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63481590C>T" "" "likely benign" "" "0000562610" "0" "30" "17" "61559819" "61559819" "subst" "0.00247383" "01804" "ACE_000064" "g.61559819C>T" "" "" "" "ACE(NM_000789.3):c.1119-8C>T (p.(=)), ACE(NM_000789.4):c.1119-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63482458C>T" "" "likely benign" "" "0000562611" "0" "30" "17" "61560049" "61560049" "subst" "0.0017687" "01804" "ACE_000065" "g.61560049G>C" "" "" "" "ACE(NM_000789.3):c.1341G>C (p.(=)), ACE(NM_000789.4):c.1341G>C (p.T447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63482688G>C" "" "likely benign" "" "0000562612" "0" "30" "17" "61560890" "61560890" "subst" "1.21858E-5" "01943" "ACE_000066" "g.61560890T>C" "" "" "" "ACE(NM_000789.3):c.1557T>C (p.F519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63483529T>C" "" "likely benign" "" "0000562613" "0" "10" "17" "61562493" "61562493" "dup" "0" "02326" "ACE_000048" "g.61562493dup" "" "" "" "ACE(NM_000789.4):c.1922-104dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63485132dup" "" "benign" "" "0000562614" "0" "10" "17" "61564052" "61564052" "subst" "0.500012" "02325" "ACE_000067" "g.61564052A>G" "" "" "" "ACE(NM_000789.4):c.2193A>G (p.A731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63486691A>G" "" "benign" "" "0000562615" "0" "30" "17" "61568577" "61568577" "subst" "0.00393298" "01804" "ACE_000068" "g.61568577C>T" "" "" "" "ACE(NM_000789.3):c.2747C>T (p.T916M, p.(Thr916Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63491216C>T" "" "likely benign" "" "0000562616" "0" "30" "17" "61570836" "61570836" "subst" "0.000211406" "01943" "ACE_000069" "g.61570836G>C" "" "" "" "ACE(NM_000789.3):c.2952G>C (p.V984=), ACE(NM_000789.4):c.2952G>C (p.V984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63493475G>C" "" "likely benign" "" "0000562617" "0" "50" "17" "61570891" "61570891" "subst" "0" "01804" "ACE_000070" "g.61570891C>A" "" "" "" "ACE(NM_000789.3):c.3007C>A (p.(Pro1003Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63493530C>A" "" "VUS" "" "0000562618" "0" "30" "17" "61573821" "61573821" "subst" "2.03103E-5" "01943" "ACE_000071" "g.61573821G>A" "" "" "" "ACE(NM_000789.3):c.3447G>A (p.T1149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63496460G>A" "" "likely benign" "" "0000562623" "0" "30" "17" "61574575" "61574575" "subst" "0" "01804" "ACE_000076" "g.61574575G>A" "" "" "" "ACE(NM_000789.3):c.3769G>A (p.(Val1257Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63497214G>A" "" "likely benign" "" "0000692432" "0" "30" "17" "61574355" "61574355" "subst" "0" "01943" "ACE_000079" "g.61574355A>C" "" "" "" "ACE(NM_000789.3):c.3691+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726597" "0" "30" "17" "61554500" "61554500" "subst" "0.00101035" "01943" "ACE_000080" "g.61554500G>C" "" "" "" "ACE(NM_000789.3):c.45G>C (p.P15=), ACE(NM_000789.4):c.45G>C (p.P15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726598" "0" "30" "17" "61559079" "61559079" "subst" "0.000146365" "02326" "ACE_000081" "g.61559079C>T" "" "" "" "ACE(NM_000789.4):c.1098C>T (p.F366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726599" "0" "90" "17" "61561770" "61561770" "del" "0" "02329" "ACE_000077" "g.61561770del" "" "" "" "ACE(NM_000789.4):c.1789delC (p.Q597Sfs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726600" "0" "50" "17" "61562654" "61562654" "subst" "0.000913854" "01943" "ACE_000082" "g.61562654C>G" "" "" "" "ACE(NM_000789.3):c.1979C>G (p.S660C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726601" "0" "50" "17" "61564080" "61564080" "subst" "1.62588E-5" "02326" "ACE_000083" "g.61564080T>C" "" "" "" "ACE(NM_000789.4):c.2217+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726602" "0" "30" "17" "61568577" "61568577" "subst" "0.00393298" "01943" "ACE_000068" "g.61568577C>T" "" "" "" "ACE(NM_000789.3):c.2747C>T (p.T916M, p.(Thr916Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726603" "0" "70" "17" "61571365" "61571370" "del" "0" "02329" "ACE_000078" "g.61571365_61571370del" "" "" "" "ACE(NM_000789.4):c.3219_3224delCTGGAG (p.W1074_R1075del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726604" "0" "30" "17" "61573863" "61573863" "subst" "0.000422754" "02326" "ACE_000084" "g.61573863C>T" "" "" "" "ACE(NM_000789.4):c.3489C>T (p.A1163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763543" "11" "50" "17" "61560506" "61560506" "subst" "0.000243643" "03256" "ACE_000085" "g.61560506C>T" "" "{PMID:Loules 2020:33114181}, {DOI:Loules 2020:10.3390/jcm9113402}" "" "" "variant present in 2 affecteds carrying KNG1 variant, absent in one and present in one asymptomatic individual" "Germline" "" "" "0" "" "" "g.63483145C>T" "{CV:VCV000888834.1}" "likely pathogenic" "" "0000764161" "0" "30" "17" "61570937" "61570937" "subst" "0.000365583" "03256" "ACE_000086" "g.61570937T>C" "0.000362 (91/251382, GnomAD_exome); 0.000421 (51/121236, ExAC); 0.001322 (166/125568, TOPMED)" "" "" "" "In the family, c.3053T>C variant is combined with other alleles recognized as pathogenic or likely pathogenic. Variant not submitted for publication. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease." "Germline" "yes" "rs4976" "0" "" "" "g.63493576T>C" "{CV:VCV000888967.1}" "VUS" "" "0000786636" "11" "90" "17" "61573878" "61573878" "subst" "0" "00006" "ACE_000087" "g.61573878G>C" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline" "" "" "0" "" "" "g.63496517G>C" "" "pathogenic" "" "0000786675" "11" "90" "17" "61573878" "61573878" "subst" "0" "00006" "ACE_000087" "g.61573878G>C" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Uniparental disomy, paternal allele" "" "" "0" "" "" "g.63496517G>C" "" "pathogenic" "" "0000808189" "0" "30" "17" "61555453" "61555453" "subst" "0.000171418" "01943" "ACE_000088" "g.61555453G>T" "" "" "" "ACE(NM_000789.3):c.411G>T (p.R137=), ACE(NM_000789.4):c.411G>T (p.R137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808190" "0" "90" "17" "61558474" "61558474" "subst" "0" "01943" "ACE_000089" "g.61558474G>A" "" "" "" "ACE(NM_000789.3):c.870G>A (p.W290*), ACE(NM_000789.4):c.870G>A (p.W290*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808191" "0" "90" "17" "61558474" "61558474" "subst" "0" "02326" "ACE_000089" "g.61558474G>A" "" "" "" "ACE(NM_000789.3):c.870G>A (p.W290*), ACE(NM_000789.4):c.870G>A (p.W290*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808192" "0" "30" "17" "61562229" "61562229" "subst" "0.000289802" "02326" "ACE_000090" "g.61562229A>G" "" "" "" "ACE(NM_152830.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808193" "0" "30" "17" "61566095" "61566095" "subst" "0.00213184" "02326" "ACE_000091" "g.61566095A>G" "" "" "" "ACE(NM_000789.4):c.2392A>G (p.I798V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808194" "0" "30" "17" "61566444" "61566444" "subst" "9.78202E-5" "02326" "ACE_000092" "g.61566444C>T" "" "" "" "ACE(NM_000789.4):c.2592C>T (p.Y864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808195" "0" "90" "17" "61568346" "61568347" "dup" "0" "01943" "ACE_000093" "g.61568346_61568347dup" "" "" "" "ACE(NM_000789.3):c.2673_2674dupCT (p.Y892Sfs*21), ACE(NM_000789.4):c.2673_2674dupCT (p.Y892Sfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808196" "0" "90" "17" "61568346" "61568347" "dup" "0" "02326" "ACE_000093" "g.61568346_61568347dup" "" "" "" "ACE(NM_000789.3):c.2673_2674dupCT (p.Y892Sfs*21), ACE(NM_000789.4):c.2673_2674dupCT (p.Y892Sfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808197" "0" "30" "17" "61573738" "61573738" "subst" "0.000954873" "02326" "ACE_000094" "g.61573738G>T" "" "" "" "ACE(NM_000789.4):c.3381-17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855042" "0" "30" "17" "61554500" "61554500" "subst" "0.00101035" "02326" "ACE_000080" "g.61554500G>C" "" "" "" "ACE(NM_000789.3):c.45G>C (p.P15=), ACE(NM_000789.4):c.45G>C (p.P15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855043" "0" "10" "17" "61556429" "61556429" "subst" "0.00148389" "02326" "ACE_000061" "g.61556429A>G" "" "" "" "ACE(NM_000789.4):c.479A>G (p.N160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855044" "0" "10" "17" "61557689" "61557689" "subst" "0.00186499" "02326" "ACE_000095" "g.61557689C>T" "" "" "" "ACE(NM_000789.4):c.656-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855045" "0" "30" "17" "61558565" "61558565" "subst" "0.000310255" "02326" "ACE_000096" "g.61558565A>G" "" "" "" "ACE(NM_000789.4):c.945+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855046" "0" "10" "17" "61561756" "61561756" "subst" "0.00362698" "02326" "ACE_000098" "g.61561756A>G" "" "" "" "ACE(NM_000789.4):c.1775A>G (p.D592G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855047" "0" "10" "17" "61566085" "61566085" "subst" "0.00177044" "02326" "ACE_000099" "g.61566085G>A" "" "" "" "ACE(NM_000789.4):c.2382G>A (p.A794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855048" "0" "10" "17" "61566402" "61566402" "subst" "0.00148681" "02326" "ACE_000100" "g.61566402C>G" "" "" "" "ACE(NM_000789.4):c.2550C>G (p.L850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855049" "0" "30" "17" "61573743" "61573743" "subst" "0.000215347" "02326" "ACE_000101" "g.61573743G>A" "" "" "" "ACE(NM_000789.4):c.3381-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865407" "0" "30" "17" "61561197" "61561197" "subst" "0.000113731" "02326" "ACE_000097" "g.61561197C>G" "" "" "" "ACE(NM_000789.4):c.1587-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865408" "0" "30" "17" "61571755" "61571755" "subst" "0.000650264" "02326" "ACE_000052" "g.61571755C>A" "" "" "" "ACE(NM_000789.3):c.3304C>A (p.P1102T), ACE(NM_000789.4):c.3304C>A (p.P1102T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894144" "0" "30" "17" "61555453" "61555453" "subst" "0.000171418" "02326" "ACE_000088" "g.61555453G>T" "" "" "" "ACE(NM_000789.3):c.411G>T (p.R137=), ACE(NM_000789.4):c.411G>T (p.R137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894145" "0" "30" "17" "61557822" "61557822" "subst" "0.00199032" "02326" "ACE_000102" "g.61557822C>T" "" "" "" "ACE(NM_000789.4):c.780C>T (p.R260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894146" "0" "90" "17" "61557835" "61557835" "subst" "1.21855E-5" "02326" "ACE_000008" "g.61557835C>T" "" "" "" "ACE(NM_000789.4):c.793C>T (p.R265*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894147" "0" "30" "17" "61557901" "61557901" "subst" "0.00152382" "02326" "ACE_000103" "g.61557901G>A" "" "" "" "ACE(NM_000789.4):c.847+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894148" "0" "30" "17" "61558951" "61558951" "subst" "0.00196447" "02326" "ACE_000063" "g.61558951C>T" "" "" "" "ACE(NM_000789.3):c.970C>T (p.(Arg324Trp)), ACE(NM_000789.4):c.970C>T (p.R324W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894149" "0" "30" "17" "61559819" "61559819" "subst" "0.00247383" "02326" "ACE_000064" "g.61559819C>T" "" "" "" "ACE(NM_000789.3):c.1119-8C>T (p.(=)), ACE(NM_000789.4):c.1119-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894150" "0" "30" "17" "61560033" "61560033" "subst" "0.0012686" "02326" "ACE_000104" "g.61560033G>A" "" "" "" "ACE(NM_000789.4):c.1325G>A (p.R442H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894151" "0" "30" "17" "61560049" "61560049" "subst" "0.0017687" "02326" "ACE_000065" "g.61560049G>C" "" "" "" "ACE(NM_000789.3):c.1341G>C (p.(=)), ACE(NM_000789.4):c.1341G>C (p.T447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894152" "0" "30" "17" "61566370" "61566370" "subst" "0.000723136" "02326" "ACE_000105" "g.61566370C>A" "" "" "" "ACE(NM_000789.4):c.2518C>A (p.R840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894153" "0" "30" "17" "61568617" "61568617" "subst" "0.00214838" "02326" "ACE_000106" "g.61568617C>T" "" "" "" "ACE(NM_000789.4):c.2787C>T (p.T929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894154" "0" "30" "17" "61568704" "61568704" "subst" "4.47074E-5" "02326" "ACE_000107" "g.61568704C>T" "" "" "" "ACE(NM_000789.4):c.2874C>T (p.H958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894155" "0" "30" "17" "61570816" "61570816" "subst" "0.000244085" "02326" "ACE_000108" "g.61570816G>A" "" "" "" "ACE(NM_000789.4):c.2932G>A (p.(Val978Met), p.V978M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894156" "0" "30" "17" "61570836" "61570836" "subst" "0.000211406" "02326" "ACE_000069" "g.61570836G>C" "" "" "" "ACE(NM_000789.3):c.2952G>C (p.V984=), ACE(NM_000789.4):c.2952G>C (p.V984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894157" "0" "30" "17" "61571446" "61571446" "subst" "0.000276817" "02326" "ACE_000109" "g.61571446G>A" "" "" "" "ACE(NM_000789.4):c.3281+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894158" "0" "30" "17" "61574215" "61574215" "subst" "0.000730016" "02326" "ACE_000110" "g.61574215C>T" "" "" "" "ACE(NM_000789.4):c.3560C>T (p.T1187M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894159" "0" "30" "17" "61574607" "61574607" "subst" "0.00177683" "02326" "ACE_000111" "g.61574607C>T" "" "" "" "ACE(NM_000789.4):c.3801C>T (p.I1267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894160" "0" "10" "17" "61574675" "61574675" "subst" "0.00139164" "02326" "ACE_000058" "g.61574675G>A" "" "" "" "ACE(NM_000789.3):c.3869G>A (p.R1290Q), ACE(NM_000789.4):c.3869G>A (p.R1290Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000908857" "3" "70" "17" "61561337" "61561337" "subst" "0" "00006" "ACE_000112" "g.61561337G>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, cryptic splice donor; transcripts cycloheximide insensitive, cycloheximide sensitive" "Germline" "" "" "0" "" "" "g.63483976G>C" "" "pathogenic (recessive)" "" "0000914943" "0" "30" "17" "61559809" "61559809" "subst" "2.87829E-5" "02326" "ACE_000113" "g.61559809G>A" "" "" "" "ACE(NM_000789.4):c.1119-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914944" "0" "90" "17" "61560920" "61560920" "subst" "0" "02329" "ACE_000034" "g.61560920G>A" "" "" "" "ACE(NM_000789.4):c.1586+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926618" "0" "50" "17" "61559084" "61559084" "subst" "1.22004E-5" "02325" "ACE_000114" "g.61559084A>G" "" "" "" "ACE(NM_000789.4):c.1103A>G (p.N368S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926619" "0" "30" "17" "61561304" "61561304" "subst" "0.000764551" "02326" "ACE_000115" "g.61561304C>T" "" "" "" "ACE(NM_000789.4):c.1681C>T (p.R561W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926620" "0" "30" "17" "61568310" "61568310" "subst" "1.21837E-5" "02325" "ACE_000116" "g.61568310T>C" "" "" "" "ACE(NM_000789.4):c.2642-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951009" "0" "30" "17" "61555391" "61555391" "subst" "0.000137084" "02326" "ACE_000117" "g.61555391C>T" "" "" "" "ACE(NM_000789.4):c.349C>T (p.L117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951010" "0" "30" "17" "61564046" "61564046" "subst" "0.00158401" "02326" "ACE_000118" "g.61564046G>T" "" "" "" "ACE(NM_000789.4):c.2187G>T (p.R729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969156" "0" "70" "17" "61560844" "61560844" "del" "0" "02326" "ACE_000119" "g.61560844del" "" "" "" "ACE(NM_000789.4):c.1511delC (p.P504Lfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982700" "0" "30" "17" "61570983" "61570983" "subst" "4.07538E-6" "02326" "ACE_000120" "g.61570983C>T" "" "" "" "ACE(NM_000789.4):c.3099C>T (p.H1033=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015598" "0" "90" "17" "61554493" "61554498" "del" "0" "02326" "ACE_000018" "g.61554493_61554498del" "" "" "" "ACE(NM_000789.4):c.38_43delTGCTGC (p.L13_L14del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042069" "0" "50" "17" "61554507" "61554512" "del" "0" "01804" "ACE_000121" "g.61554507_61554512del" "" "" "" "ACE(NM_000789.4):c.52_57del (p.(Leu21_Leu22del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042070" "0" "50" "17" "61558487" "61558487" "subst" "0" "01804" "ACE_000122" "g.61558487G>T" "" "" "" "ACE(NM_000789.4):c.883G>T (p.(Asp295Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042071" "0" "50" "17" "61570816" "61570816" "subst" "0.000244085" "01804" "ACE_000108" "g.61570816G>A" "" "" "" "ACE(NM_000789.4):c.2932G>A (p.(Val978Met), p.V978M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042072" "0" "30" "17" "61570992" "61570992" "subst" "0.00077914" "01804" "ACE_000123" "g.61570992C>A" "" "" "" "ACE(NM_000789.4):c.3108C>A (p.(Asn1036Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056134" "0" "50" "17" "61561341" "61561341" "subst" "4.1587E-6" "01804" "ACE_000124" "g.61561341T>G" "" "" "" "ACE(NM_000789.4):c.1709+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056135" "0" "50" "17" "61562301" "61562301" "subst" "0" "01804" "ACE_000125" "g.61562301C>T" "" "" "" "ACE(NM_001178057.2):c.73C>T (p.(Leu25=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059379" "0" "90" "17" "61560921" "61560924" "del" "0" "04922" "ACE_000126" "g.61560921_61560924del" "" "" "" "hg38 63483559GTATT>G" "novel, extremely rare ACE gene splice donor variant with estimated SpliceAI score >0.95, indicating very high confidence for splicing disruption. This canonical GT splice site variant is predicted to cause exon skipping, intron retention, or cryptic splice site activation, leading to reduced or absent ACE protein through nonsense-mediated decay." "Germline/De novo (untested)" "?" "" "0" "" "" "g.63483560_63483563del" "" "likely pathogenic" "" ## 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 ACE ## Count = 165 "{{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}}" "0000022735" "00001958" "95" "13" "0" "22" "0" "c.13_22del" "r.(?)" "p.(Ser5Glyfs*136)" "1" "0000022736" "00001958" "95" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791*)" "16" "0000022737" "00001958" "95" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Trp343*)" "7" "0000022738" "00001958" "95" "38" "0" "49" "0" "c.38_49del" "r.(?)" "p.(Leu13_Leu16del)" "1" "0000022739" "00001958" "95" "21" "0" "30" "0" "c.21_30del" "r.(?)" "p.(Arg8Glyfs*134)" "1" "0000022740" "00001958" "95" "1740" "0" "1740" "0" "c.1740del" "r.(?)" "p.(Trp581Glyfs*5)" "12" "0000022741" "00001958" "95" "2162" "0" "2163" "0" "c.2162_2163del" "r.(?)" "p.(Ile721Lysfs*60)" "14" "0000022742" "00001958" "95" "3503" "1" "3503" "1" "c.3503+1G>A" "r.spl" "p.?" "23i" "0000022743" "00001958" "95" "62" "0" "62" "0" "c.62T>C" "r.(?)" "p.(Leu21Pro)" "1" "0000022744" "00001958" "95" "3521" "0" "3521" "0" "c.3521del" "r.(?)" "p.(Gly1174Alafs*12)" "24" "0000022745" "00001958" "95" "47" "0" "70" "0" "c.47_70del" "r.(?)" "p.(Leu16_Pro23del)" "1" "0000022746" "00001958" "95" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Trp343*)" "7" "0000022747" "00001958" "90" "2059" "-1" "2305" "1" "c.(2058+1_2059-1)_(2305+1_2306-1)del" "r.?" "p.(fs*)" "13i_15i" "0000022748" "00001958" "95" "1867" "0" "1867" "0" "c.1867T>C" "r.(?)" "p.(Trp623Arg)" "12" "0000022749" "00001958" "95" "3521" "0" "3521" "0" "c.3521del" "r.(?)" "p.(Gly1174Alafs*12)" "24" "0000022750" "00001958" "95" "38" "0" "43" "0" "c.38_43del" "r.(?)" "p.(Leu13_Leu14del)" "1" "0000022751" "00001958" "95" "3521" "0" "3521" "0" "c.3521del" "r.(?)" "p.(Gly1174Alafs*12)" "24" "0000022752" "00001958" "95" "3521" "0" "3521" "0" "c.3521del" "r.(?)" "p.(Gly1174Alafs*12)" "24" "0000022753" "00001958" "95" "3521" "0" "3521" "0" "c.3521del" "r.(?)" "p.(Gly1174Alafs*12)" "24" "0000022754" "00001958" "95" "1028" "0" "1031" "0" "c.1028_1031dup" "r.(?)" "p.(Ser346Argfs*47)" "7" "0000022755" "00001958" "95" "2570" "0" "2570" "0" "c.2570G>A" "r.(?)" "p.(Arg857His)" "17" "0000022756" "00001958" "95" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496*)" "9" "0000022757" "00001958" "95" "3293" "0" "3293" "0" "c.3293A>G" "r.(?)" "p.(Gln1098Arg)" "22" "0000022758" "00001958" "95" "1803" "0" "1803" "0" "c.1803del" "r.(?)" "p.(Lys601Asnfs*40)" "12" "0000022760" "00001958" "95" "798" "0" "798" "0" "c.798C>G" "r.(?)" "p.(Tyr266*)" "5" "0000022761" "00001958" "95" "47" "0" "70" "0" "c.47_70del" "r.(?)" "p.(Leu16_Pro23del)" "1" "0000022762" "00001958" "95" "1319" "0" "1322" "0" "c.1319_1322del" "r.(?)" "p.(Leu440Profs*15)" "8" "0000022763" "00001958" "95" "2149" "0" "2150" "0" "c.2149_2150del" "r.(?)" "p.(Ile717Glnfs*64)" "14" "0000022764" "00001958" "95" "798" "0" "798" "0" "c.798C>G" "r.(?)" "p.(Tyr266*)" "5" "0000022765" "00001958" "95" "3514" "0" "3549" "0" "c.3514_3549del" "r.(?)" "p.(Lys1172_Met1183del)" "24" "0000022766" "00001958" "95" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791*)" "16" "0000022767" "00001958" "95" "3521" "0" "3521" "0" "c.3521del" "r.(?)" "p.(Gly1174Alafs*12)" "24" "0000022768" "00001958" "95" "38" "0" "49" "0" "c.38_49del" "r.(?)" "p.(Leu13_Leu16del)" "1" "0000022769" "00001958" "95" "21" "0" "30" "0" "c.21_30del" "r.(?)" "p.(Arg8Glyfs*134)" "1" "0000022770" "00001958" "95" "982" "0" "984" "0" "c.982_984del" "r.(?)" "p.(Glu328del)" "7" "0000022771" "00001958" "95" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265*)" "5" "0000022772" "00001958" "95" "1803" "0" "1803" "0" "c.1803del" "r.(?)" "p.(Lys601Asnfs*40)" "12" "0000022773" "00001958" "95" "62" "0" "62" "0" "c.62T>C" "r.(?)" "p.(Leu21Pro)" "1" "0000022774" "00001958" "95" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508*)" "10" "0000022775" "00001958" "95" "47" "0" "70" "0" "c.47_70del" "r.(?)" "p.(Leu16_Pro23del)" "1" "0000022776" "00001958" "95" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Trp343*)" "7" "0000022777" "00001958" "95" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265*)" "5" "0000022778" "00001958" "95" "1867" "0" "1867" "0" "c.1867T>C" "r.(?)" "p.(Trp623Arg)" "12" "0000022779" "00001958" "95" "3521" "0" "3521" "0" "c.3521del" "r.(?)" "p.(Gly1174Alafs*12)" "24" "0000022780" "00001958" "95" "38" "0" "43" "0" "c.38_43del" "r.(?)" "p.(Leu13_Leu14del)" "1" "0000022781" "00001958" "95" "3521" "0" "3521" "0" "c.3521del" "r.(?)" "p.(Gly1174Alafs*12)" "24" "0000022782" "00001958" "95" "3521" "0" "3521" "0" "c.3521del" "r.(?)" "p.(Gly1174Alafs*12)" "24" "0000022783" "00001958" "95" "3521" "0" "3521" "0" "c.3521del" "r.(?)" "p.(Gly1174Alafs*12)" "24" "0000022784" "00001958" "95" "444" "0" "445" "0" "c.444_445insTTAGC" "r.(?)" "p.(Arg149Leufs*54)" "3" "0000022785" "00001958" "95" "3493" "0" "3493" "0" "c.3493C>T" "r.(?)" "p.(Gln1165*)" "23" "0000022788" "00001958" "95" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496*)" "9" "0000022789" "00001958" "95" "3293" "0" "3293" "0" "c.3293A>G" "r.(?)" "p.(Gln1098Arg)" "22" "0000022790" "00001958" "95" "3626" "0" "3626" "0" "c.3626G>C" "r.(?)" "p.(Arg1209Pro)" "24" "0000022793" "00001958" "95" "47" "0" "70" "0" "c.47_70del" "r.(?)" "p.(Leu16_Pro23del)" "1" "0000022794" "00001958" "95" "1319" "0" "1322" "0" "c.1319_1322del" "r.(?)" "p.(Leu440Profs*15)" "8" "0000022795" "00001958" "95" "47" "0" "70" "0" "c.47_70del" "r.(?)" "p.(Leu16_Pro23del)" "1" "0000022796" "00001958" "95" "444" "0" "445" "0" "c.444_445insTTAGC" "r.(?)" "p.(Arg149Leufs*54)" "3" "0000022833" "00001958" "55" "0" "0" "0" "0" "c.?" "r.?" "p.?" "1_25" "0000022838" "00001958" "55" "0" "0" "0" "0" "c.?" "r.?" "p.?" "1_25" "0000022839" "00001958" "95" "998" "0" "998" "0" "c.998T>A" "r.(?)" "p.(Leu333Gln)" "7" "0000022840" "00001958" "55" "0" "0" "0" "0" "c.?" "r.?" "p.?" "1_25" "0000022841" "00001958" "95" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259His)" "5" "0000048396" "00001958" "70" "2306" "-105" "2306" "-104" "c.2306-105_2306-104ins[X62855.1:g.1465_1752]" "r.(?)" "p.(=)" "15i" "0000129995" "00001958" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265*)" "" "0000129996" "00001958" "70" "1586" "1" "1586" "1" "c.1586+1G>A" "r.spl?" "p.?" "" "0000249227" "00001958" "10" "2306" "-11" "2306" "-11" "c.2306-11A>C" "r.(=)" "p.(=)" "" "0000251168" "00001958" "10" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Tyr244Cys)" "" "0000258893" "00001958" "10" "1215" "0" "1215" "0" "c.1215C>T" "r.(?)" "p.(Pro405=)" "" "0000258894" "00001958" "10" "1922" "-104" "1922" "-104" "c.1922-104dup" "r.(=)" "p.(=)" "" "0000258895" "00001958" "10" "2306" "-19" "2306" "-19" "c.2306-19G>C" "r.(=)" "p.(=)" "" "0000258896" "00001958" "10" "2328" "0" "2328" "0" "c.2328G>A" "r.(?)" "p.(Thr776=)" "" "0000258897" "00001958" "10" "3387" "0" "3387" "0" "c.3387T>C" "r.(?)" "p.(Phe1129=)" "" "0000258898" "00001958" "10" "3692" "-6" "3692" "-6" "c.3692-6G>A" "r.(=)" "p.(=)" "" "0000258899" "00001958" "10" "1922" "-288" "1922" "-288" "c.1922-288C>T" "r.(=)" "p.(=)" "" "0000260487" "00001958" "10" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Asp72Asn)" "" "0000260488" "00001958" "10" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Ala77=)" "" "0000260489" "00001958" "10" "3836" "0" "3836" "0" "c.3836G>A" "r.(?)" "p.(Arg1279Gln)" "" "0000260490" "00001958" "10" "847" "31" "847" "31" "c.847+31C>T" "r.(=)" "p.(=)" "" "0000261773" "00001958" "30" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Ile528=)" "" "0000261774" "00001958" "10" "3304" "0" "3304" "0" "c.3304C>A" "r.(?)" "p.(Pro1102Thr)" "" "0000261775" "00001958" "50" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Arg1127Lys)" "" "0000261776" "00001958" "50" "3656" "0" "3656" "0" "c.3656T>C" "r.(?)" "p.(Leu1219Pro)" "" "0000261777" "00001958" "10" "3869" "0" "3869" "0" "c.3869G>A" "r.(?)" "p.(Arg1290Gln)" "" "0000261778" "00001958" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(Thr320=)" "" "0000325550" "00001958" "50" "50" "0" "55" "0" "c.50_55dup" "r.(?)" "p.(Pro17_Leu18dup)" "" "0000562605" "00001958" "50" "465" "0" "465" "0" "c.465G>C" "r.(?)" "p.(Lys155Asn)" "" "0000562608" "00001958" "50" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Arg)" "" "0000562609" "00001958" "30" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Trp)" "" "0000562610" "00001958" "30" "1119" "-8" "1119" "-8" "c.1119-8C>T" "r.(=)" "p.(=)" "" "0000562611" "00001958" "30" "1341" "0" "1341" "0" "c.1341G>C" "r.(?)" "p.(Thr447=)" "" "0000562612" "00001958" "30" "1557" "0" "1557" "0" "c.1557T>C" "r.(?)" "p.(Phe519=)" "" "0000562613" "00001958" "10" "1922" "-104" "1922" "-104" "c.1922-104dup" "r.(=)" "p.(=)" "" "0000562614" "00001958" "10" "2193" "0" "2193" "0" "c.2193A>G" "r.(?)" "p.(Ala731=)" "" "0000562615" "00001958" "30" "2747" "0" "2747" "0" "c.2747C>T" "r.(?)" "p.(Thr916Met)" "" "0000562616" "00001958" "30" "2952" "0" "2952" "0" "c.2952G>C" "r.(?)" "p.(Val984=)" "" "0000562617" "00001958" "50" "3007" "0" "3007" "0" "c.3007C>A" "r.(?)" "p.(Pro1003Thr)" "" "0000562618" "00001958" "30" "3447" "0" "3447" "0" "c.3447G>A" "r.(?)" "p.(Thr1149=)" "" "0000562623" "00001958" "30" "3769" "0" "3769" "0" "c.3769G>A" "r.(?)" "p.(Val1257Met)" "" "0000692432" "00001958" "30" "3691" "9" "3691" "9" "c.3691+9A>C" "r.(=)" "p.(=)" "" "0000726597" "00001958" "30" "45" "0" "45" "0" "c.45G>C" "r.(?)" "p.(Pro15=)" "" "0000726598" "00001958" "30" "1098" "0" "1098" "0" "c.1098C>T" "r.(?)" "p.(Phe366=)" "" "0000726599" "00001958" "90" "1789" "0" "1789" "0" "c.1789del" "r.(?)" "p.(Gln597SerfsTer44)" "" "0000726600" "00001958" "50" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ser660Cys)" "" "0000726601" "00001958" "50" "2217" "4" "2217" "4" "c.2217+4T>C" "r.spl?" "p.?" "" "0000726602" "00001958" "30" "2747" "0" "2747" "0" "c.2747C>T" "r.(?)" "p.(Thr916Met)" "" "0000726603" "00001958" "70" "3219" "0" "3224" "0" "c.3219_3224del" "r.(?)" "p.(Trp1074_Arg1075del)" "" "0000726604" "00001958" "30" "3489" "0" "3489" "0" "c.3489C>T" "r.(?)" "p.(Ala1163=)" "" "0000763543" "00001958" "50" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487Cys)" "9" "0000764161" "00001958" "30" "3053" "0" "3053" "0" "c.3053T>C" "r.(?)" "p.(Ile1018Thr)" "20" "0000786636" "00001958" "90" "3503" "1" "3503" "1" "c.3503+1G>C" "r.spl" "p.?" "" "0000786675" "00001958" "90" "3503" "1" "3503" "1" "c.3503+1G>C" "r.spl" "p.?" "" "0000808189" "00001958" "30" "411" "0" "411" "0" "c.411G>T" "r.(?)" "p.(Arg137=)" "" "0000808190" "00001958" "90" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Trp290*)" "" "0000808191" "00001958" "90" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Trp290*)" "" "0000808192" "00001958" "30" "1921" "327" "1921" "327" "c.1921+327A>G" "r.(=)" "p.(=)" "" "0000808193" "00001958" "30" "2392" "0" "2392" "0" "c.2392A>G" "r.(?)" "p.(Ile798Val)" "" "0000808194" "00001958" "30" "2592" "0" "2592" "0" "c.2592C>T" "r.(?)" "p.(Tyr864=)" "" "0000808195" "00001958" "90" "2673" "0" "2674" "0" "c.2673_2674dup" "r.(?)" "p.(Tyr892Serfs*21)" "" "0000808196" "00001958" "90" "2673" "0" "2674" "0" "c.2673_2674dup" "r.(?)" "p.(Tyr892Serfs*21)" "" "0000808197" "00001958" "30" "3381" "-17" "3381" "-17" "c.3381-17G>T" "r.(=)" "p.(=)" "" "0000855042" "00001958" "30" "45" "0" "45" "0" "c.45G>C" "r.(?)" "p.(Pro15=)" "" "0000855043" "00001958" "10" "479" "0" "479" "0" "c.479A>G" "r.(?)" "p.(Asn160Ser)" "" "0000855044" "00001958" "10" "656" "-9" "656" "-9" "c.656-9C>T" "r.(=)" "p.(=)" "" "0000855045" "00001958" "30" "945" "16" "945" "16" "c.945+16A>G" "r.(=)" "p.(=)" "" "0000855046" "00001958" "10" "1775" "0" "1775" "0" "c.1775A>G" "r.(?)" "p.(Asp592Gly)" "" "0000855047" "00001958" "10" "2382" "0" "2382" "0" "c.2382G>A" "r.(?)" "p.(Ala794=)" "" "0000855048" "00001958" "10" "2550" "0" "2550" "0" "c.2550C>G" "r.(?)" "p.(Leu850=)" "" "0000855049" "00001958" "30" "3381" "-12" "3381" "-12" "c.3381-12G>A" "r.(=)" "p.(=)" "" "0000865407" "00001958" "30" "1587" "-13" "1587" "-13" "c.1587-13C>G" "r.(=)" "p.(=)" "" "0000865408" "00001958" "30" "3304" "0" "3304" "0" "c.3304C>A" "r.(?)" "p.(Pro1102Thr)" "" "0000894144" "00001958" "30" "411" "0" "411" "0" "c.411G>T" "r.(?)" "p.(Arg137=)" "" "0000894145" "00001958" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Arg260=)" "" "0000894146" "00001958" "90" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265*)" "" "0000894147" "00001958" "30" "847" "12" "847" "12" "c.847+12G>A" "r.(=)" "p.(=)" "" "0000894148" "00001958" "30" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Trp)" "" "0000894149" "00001958" "30" "1119" "-8" "1119" "-8" "c.1119-8C>T" "r.(=)" "p.(=)" "" "0000894150" "00001958" "30" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442His)" "" "0000894151" "00001958" "30" "1341" "0" "1341" "0" "c.1341G>C" "r.(?)" "p.(Thr447=)" "" "0000894152" "00001958" "30" "2518" "0" "2518" "0" "c.2518C>A" "r.(?)" "p.(Arg840=)" "" "0000894153" "00001958" "30" "2787" "0" "2787" "0" "c.2787C>T" "r.(?)" "p.(Thr929=)" "" "0000894154" "00001958" "30" "2874" "0" "2874" "0" "c.2874C>T" "r.(?)" "p.(His958=)" "" "0000894155" "00001958" "30" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Val978Met)" "" "0000894156" "00001958" "30" "2952" "0" "2952" "0" "c.2952G>C" "r.(?)" "p.(Val984=)" "" "0000894157" "00001958" "30" "3281" "19" "3281" "19" "c.3281+19G>A" "r.(=)" "p.(=)" "" "0000894158" "00001958" "30" "3560" "0" "3560" "0" "c.3560C>T" "r.(?)" "p.(Thr1187Met)" "" "0000894159" "00001958" "30" "3801" "0" "3801" "0" "c.3801C>T" "r.(?)" "p.(Ile1267=)" "" "0000894160" "00001958" "10" "3869" "0" "3869" "0" "c.3869G>A" "r.(?)" "p.(Arg1290Gln)" "" "0000908857" "00001958" "70" "1709" "5" "1709" "5" "c.1709+5G>C" "r.[1587_1709del,1693_1709del]" "p.[Tyr530_Arg570del,Ala565Glufs*64]" "" "0000914943" "00001958" "30" "1119" "-18" "1119" "-18" "c.1119-18G>A" "r.(=)" "p.(=)" "" "0000914944" "00001958" "90" "1586" "1" "1586" "1" "c.1586+1G>A" "r.spl?" "p.?" "" "0000926618" "00001958" "50" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Asn368Ser)" "" "0000926619" "00001958" "30" "1681" "0" "1681" "0" "c.1681C>T" "r.(?)" "p.(Arg561Trp)" "" "0000926620" "00001958" "30" "2642" "-5" "2642" "-5" "c.2642-5T>C" "r.spl?" "p.?" "" "0000951009" "00001958" "30" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(=)" "" "0000951010" "00001958" "30" "2187" "0" "2187" "0" "c.2187G>T" "r.(?)" "p.(=)" "" "0000969156" "00001958" "70" "1511" "0" "1511" "0" "c.1511del" "r.(?)" "p.(Pro504Leufs*21)" "" "0000982700" "00001958" "30" "3099" "0" "3099" "0" "c.3099C>T" "r.(?)" "p.(=)" "" "0001015598" "00001958" "90" "38" "0" "43" "0" "c.38_43del" "r.(?)" "p.(Leu13_Leu14del)" "" "0001042069" "00001958" "50" "52" "0" "57" "0" "c.52_57del" "r.(?)" "p.(Leu21_Leu22del)" "" "0001042070" "00001958" "50" "883" "0" "883" "0" "c.883G>T" "r.(?)" "p.(Asp295Tyr)" "" "0001042071" "00001958" "50" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Val978Met)" "" "0001042072" "00001958" "30" "3108" "0" "3108" "0" "c.3108C>A" "r.(?)" "p.(Asn1036Lys)" "" "0001056134" "00001958" "50" "1709" "9" "1709" "9" "c.1709+9T>G" "r.(=)" "p.(=)" "" "0001056135" "00001958" "50" "1922" "-296" "1922" "-296" "c.1922-296C>T" "r.(=)" "p.(=)" "" "0001059379" "00001958" "90" "1586" "2" "1586" "5" "c.1586+2_1586+5del" "r.spl" "p.?" "10i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{variantid}}" "0000003911" "0000022735" "0000003911" "0000022765" "0000003912" "0000022736" "0000003912" "0000022766" "0000003913" "0000022737" "0000003913" "0000022767" "0000003914" "0000022738" "0000003914" "0000022768" "0000003915" "0000022739" "0000003915" "0000022769" "0000003916" "0000022740" "0000003916" "0000022770" "0000003917" "0000022741" "0000003917" "0000022771" "0000003918" "0000022742" "0000003918" "0000022772" "0000003919" "0000022743" "0000003919" "0000022773" "0000003920" "0000022744" "0000003920" "0000022774" "0000003921" "0000022745" "0000003921" "0000022775" "0000003922" "0000022746" "0000003922" "0000022776" "0000003923" "0000022747" "0000003923" "0000022777" "0000003924" "0000022748" "0000003924" "0000022778" "0000003925" "0000022749" "0000003925" "0000022779" "0000003926" "0000022750" "0000003926" "0000022780" "0000003927" "0000022751" "0000003927" "0000022781" "0000003928" "0000022752" "0000003928" "0000022782" "0000003929" "0000022753" "0000003929" "0000022783" "0000003930" "0000022754" "0000003930" "0000022784" "0000003931" "0000022755" "0000003931" "0000022785" "0000003933" "0000022756" "0000003933" "0000022788" "0000003934" "0000022757" "0000003934" "0000022789" "0000003935" "0000022758" "0000003935" "0000022790" "0000003936" "0000022760" "0000003936" "0000022833" "0000003938" "0000022761" "0000003938" "0000022793" "0000003939" "0000022762" "0000003939" "0000022794" "0000003940" "0000022763" "0000003940" "0000022795" "0000003941" "0000022764" "0000003941" "0000022796" "0000003961" "0000022838" "0000003961" "0000022839" "0000003962" "0000022840" "0000003962" "0000022841" "0000080914" "0000129995" "0000080914" "0000129996" "0000363116" "0000763543" "0000363477" "0000764161" "0000375295" "0000786636" "0000375295" "0000786675" "0000429384" "0000908857" "0000471242" "0001059379"