### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KNG1) # 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}}" "KNG1" "kininogen 1" "3" "q21-qter" "unknown" "NG_016009.1" "UD_132084527530" "" "https://www.LOVD.nl/KNG1" "" "1" "6383" "3827" "612358" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KNG1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-07-07 09:18:33" "00006" "2025-05-27 16:18:36" ## 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}}" "00010735" "KNG1" "transcript variant 1" "003" "NM_001102416.2" "" "NP_001095886.1" "" "" "" "-234" "2498" "1935" "186435098" "186460683" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01787" "-" "high molecular weight kininogen deficiency" "AR" "228960" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-07-07 09:16:38" "06943" "HAE6" "angioedema, hereditary, type 6" "AD" "619363" "" "" "" "00006" "2022-07-07 09:17:42" "" "" "06944" "HAE" "angioedema, hereditary" "" "" "" "" "" "00006" "2022-07-07 09:18:20" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KNG1" "01787" "KNG1" "06943" "KNG1" "06944" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00050226" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050274" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050324" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00229898" "" "" "" "1" "" "03256" "" "" "F" "" "France" "" "" "" "" "" "" "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" "00361888" "" "" "" "6" "" "03256" "{PMID:Bork 2019:31087670} {DOI:Bork 2019:10.1111/all.13869}" "" "" "no" "Germany" "" "0" "" "" "" "" "00361889" "" "" "" "1" "" "03256" "{DOI:Loules 2020:10.1111/all.13869}" "" "" "" "" "" "0" "" "" "" "" "00361890" "" "" "" "1" "" "03256" "{DOI:Loules 2020:10.3390/jcm9113402}" "" "" "" "" "" "0" "" "" "" "" "00412958" "" "" "" "1" "" "03256" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "F" "no" "Switzerland" "" "0" "" "" "" "Pat5" "00417864" "" "" "" "1" "" "03256" "" "" "" "" "" "" "0" "" "" "" "" "00418368" "" "" "" "1" "" "03256" "" "" "" "" "" "" "0" "" "" "" "" "00428671" "" "" "" "3" "" "03256" "{DOI:Adenaeuer 2023:10.1016/j.jtha.2022.11.011}" "" "" "" "Italy" "" "0" "" "" "" "" "00428672" "" "" "" "1" "" "03256" "{DOI:Nazir 2019:10.15406/htij.2019.07.00197}" "" "F" "" "Oman" "" "0" "" "" "" "" "00428673" "" "" "" "4" "" "03256" "{DOI:Hayashi 1990:10.1182/blood.V75.6.1296.1296}" "Undetectable plasma antigenic HK" "F" "likely" "Japan" "" "0" "" "" "" "" "00428741" "" "" "" "3" "" "03256" "{DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "F" "" "Germany" "" "0" "" "" "" "" "00430150" "" "" "" "4" "" "03256" "{DOI:Fukushima 2022:10.2169/internalmedicine.53.0737 }" "Homozygous proband with his three heterozygous children" "M" "" "Japan" "" "0" "" "" "" "" "00430159" "" "" "" "1" "" "03256" "{DOI:Jeung 2020:10.3343/alm.2020.40.3.264}" "" "M" "" "Korea" "" "0" "" "" "" "" "00430175" "" "" "" "4" "" "03256" "{DOI:Krijanovski 2003:0.1182/blood-2002-11-\r\n3329}" "Proband homozygous carrier presenting with a markedly prolonged APTT with a normal\r\nprothrombin time, thrombin time, and clottable fibrinogen. \r\nNo antigenic HK detected" "M" "yes" "France" "" "0" "" "" "" "" "00430176" "" "" "" "1" "" "03256" "{PMID:Ishimaru 1999:10071463}" "" "F" "" "Japan" "" "0" "" "" "" "" "00430224" "" "" "" "7" "" "03256" "{DOI:Yang 2020:10.1007/s11239-020-02088-6}" "" "M" "yes" "China" "" "0" "" "" "" "" "00430225" "" "" "" "6" "" "03256" "{DOI:Shigekiyo 2007:10.1182/blood-2006-12-060616}" "" "F" "yes" "Japan" "" "0" "" "" "" "" "00444351" "" "" "" "1" "" "03256" "" "" "" "" "Brazil" "" "0" "" "" "" "" "00448054" "" "" "" "1" "" "03256" "{DOI:Dias de Castro 2024:10.1016/j.anai.2024.01.027}" "" "" "no" "Portugal" "" "0" "" "" "" "" "00448164" "" "" "" "1" "" "03256" "{DOI:Houlihan 2010:10.1016/j.ajhg.2010.02.016} {DOI:Morange 2011:10.1182/blood-2010-11-319053} {DOI:Li 2023:10.1016/j.jtha.2023.03.042}" "" "" "" "" "" "0" "" "" "" "" "00453459" "" "" "" "6" "" "03256" "{DOI:Chen 2024:10.3760/cma.j.cn511374-20230901-00105}" "" "F" "" "China" "" "0" "" "" "" "" "00460181" "" "" "" "1" "" "03256" "{DOI:Lv 2025:10.1016/j.clinbiochem.2025.110877}" "Single family with a compound heterozygous affected individual" "F" "no" "China" "" "0" "" "" "" "" "00465604" "" "" "" "1" "" "03256" "{DOI:Chen 2025:10.5847/wjem.j.1920-8642.2025.060}" "Single individual; no relevant family history. Lanadelumab did not\r\nsignificantly improve the frequency and severity of HAE attacks." "F" "no" "China" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00050226" "00198" "00050274" "00198" "00050324" "00198" "00229898" "06943" "00361887" "06943" "00361888" "06943" "00361889" "06943" "00361890" "06943" "00412958" "01787" "00417864" "06944" "00418368" "00000" "00428671" "01787" "00428672" "01787" "00428673" "01787" "00428741" "01787" "00430150" "01787" "00430159" "01787" "00430175" "01787" "00430176" "01787" "00430224" "01787" "00430225" "01787" "00444351" "06943" "00448054" "06943" "00448164" "00198" "00453459" "01787" "00460181" "01787" "00465604" "06943" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01787, 06943, 06944 ## Count = 26 "{{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}}" "0000036838" "00198" "00050226" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036886" "00198" "00050274" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036936" "00198" "00050324" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000186431" "01177" "00229898" "03256" "Familial" "" "Proband presenting with a HAE-nlC1INH phenotype, with a history of recurrent facial swelling, including lips and tongue" "" "50y" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "" "" "0000257282" "02963" "00361888" "03256" "Familial" "" "Proband presenting with a HAE-KNG phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000257283" "02963" "00361889" "03256" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000257284" "02963" "00361890" "03256" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000304944" "01787" "00412958" "03256" "Familial" "" "Compound heterozygous female proband presenting with a prolonged aPTT with a low antigenic HK and LK" "" "" "" "" "" "" "" "" "72y" "" "" "0000309237" "06944" "00417864" "03256" "Unknown" "" "Proband presenting with a ACEi iatrogenic angioedema" "" "" "" "" "" "" "" "" "" "" "" "0000309736" "00000" "00418368" "03256" "Unknown" "" "healthy donor" "" "" "" "" "" "" "" "" "" "" "" "0000319576" "01787" "00428671" "03256" "Familial, autosomal recessive" "87y" "Proband presenting with a prolonged aPTT" "" "" "" "" "" "" "" "" "" "" "" "0000319577" "01787" "00428672" "03256" "Familial" "" "Proband presenting with a prolonged aPTT" "" "" "" "" "" "" "" "" "21y" "" "" "0000319578" "01787" "00428673" "03256" "Familial" "" "Proband presenting with a prolonged aPTT" "" "39y" "" "" "" "" "" "" "" "" "" "0000319639" "01787" "00428741" "03256" "Familial, autosomal recessive" "" "Compound heterozygous proband presenting with a prolonged aPTT" "" "" "" "" "" "" "" "" "19y" "" "" "0000321022" "01787" "00430150" "03256" "Familial" "" "Proband presenting with a prolonged aPTT, with a strongly reduced expression of HK and LK" "" "" "" "" "" "" "" "" "67y" "" "" "0000321030" "01787" "00430159" "03256" "Familial" "" "Compound heterozygous proband presenting with prolonged aPTT, with undectectable functional an antigenic HK" "" "" "" "" "" "" "" "" "37y" "" "" "0000321031" "01787" "00430175" "03256" "Familial" "" "Proband presenting with a markedly prolonged aPTT, with undetectable antigenic HK" "" "" "" "" "" "" "" "" "6y" "" "" "0000321032" "01787" "00430176" "03256" "Familial" "" "Homozygous proband presenting with a markedly prolonged aPTT" "" "" "" "" "" "" "" "" "" "" "" "0000321033" "01787" "00430224" "03256" "Familial" "" "Male homozygous proband and homozygous sisters presenting with a prolonged aPTT, with an absence of HK expression" "" "" "" "" "" "" "" "" "67y" "" "" "0000321034" "01787" "00430225" "03256" "Familial" "" "Female homozygous proband presenting with a prolonged aPTT" "" "35y" "" "" "" "" "" "" "" "" "" "0000333604" "06943" "00444351" "03256" "Familial" "" "Individual likely presenting with HAE with HAE-nlC1-INH phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000337243" "06980" "00448054" "03256" "Familial" "" "A proband presenting with a HAE-nC1-INH phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000342123" "01787" "00453459" "03256" "Familial" "" "Proband presenting with a prolonged aPTT" "" "" "" "" "" "" "" "" "" "" "" "0000347909" "01787" "00460181" "03256" "Familial" "" "Proband presenting with a significant prolongation of the APTT without any bleeding disorder" "" "54y" "" "" "" "" "" "" "" "" "" "0000351150" "06943" "00465604" "03256" "Familial" "" "Recurrent angioedema of the facial skin since the age of 31 years not accompanied by abdominal pain or\r\nbloating" "31y" "33y" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050171" "00050226" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050219" "00050274" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050269" "00050324" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000230991" "00229898" "1" "03256" "03256" "2019-04-11 16:05:23" "03256" "2023-12-21 17:15:17" "SEQ" "DNA" "blood" "" "0000363116" "00361887" "1" "03256" "03256" "2021-04-11 21:07:25" "" "" "SEQ-NG-IT" "DNA" "" "" "0000363117" "00361888" "1" "03256" "03256" "2021-04-11 21:26:34" "" "" "SEQ-NG" "DNA" "" "" "0000363118" "00361889" "1" "03256" "03256" "2021-04-11 21:35:58" "" "" "SEQ-NG-IT" "DNA" "" "" "0000363119" "00361890" "1" "03256" "03256" "2021-04-11 21:41:30" "" "" "SEQ-NG-IT" "DNA" "" "" "0000414229" "00412958" "1" "03256" "03256" "2022-07-06 19:37:09" "" "" "SEQ-NG" "DNA" "blood" "" "0000419159" "00417864" "1" "03256" "03256" "2022-09-27 11:08:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000419663" "00418368" "1" "03256" "03256" "2022-09-29 11:15:38" "" "" "?" "DNA" "" "" "0000430084" "00428671" "1" "03256" "03256" "2023-01-06 13:24:48" "" "" "SEQ" "DNA" "blood" "" "0000430085" "00428672" "1" "03256" "03256" "2023-01-06 13:42:20" "" "" "SEQ" "DNA" "blood" "" "0000430086" "00428673" "1" "03256" "03256" "2023-01-06 14:06:00" "" "" "SEQ" "DNA" "blood" "" "0000430153" "00428741" "1" "03256" "03256" "2023-01-09 16:24:39" "" "" "SEQ" "DNA" "blood" "" "0000431563" "00430150" "1" "03256" "03256" "2023-01-13 15:07:38" "" "" "SEQ" "DNA" "blood" "" "0000431572" "00430159" "1" "03256" "03256" "2023-01-13 17:47:26" "" "" "SEQ" "DNA" "blood" "" "0000431588" "00430159" "1" "03256" "03256" "2023-01-13 17:54:10" "" "" "SEQ" "DNA" "blood" "" "0000431589" "00430175" "1" "03256" "03256" "2023-01-13 18:16:33" "" "" "SEQ" "DNA" "blood" "" "0000431590" "00430176" "1" "03256" "03256" "2023-01-13 18:47:41" "" "" "SEQ" "DNA" "blood" "" "0000431638" "00430224" "1" "03256" "03256" "2023-01-15 14:46:03" "" "" "SEQ" "DNA" "blood" "" "0000431639" "00430225" "1" "03256" "03256" "2023-01-15 15:16:00" "" "" "SEQ" "DNA" "blood" "" "0000445919" "00444351" "1" "03256" "03256" "2023-12-22 11:54:48" "" "" "?" "DNA" "blood" "" "0000449627" "00448054" "1" "03256" "03256" "2024-02-13 08:20:03" "" "" "SEQ" "DNA" "blood" "" "0000449739" "00448164" "1" "00006" "00006" "2024-02-22 13:20:26" "" "" "SEQ" "DNA" "" "" "0000455073" "00453459" "1" "03256" "03256" "2024-09-02 14:45:45" "" "" "SEQ" "DNA" "blood" "" "0000461812" "00460181" "1" "03256" "03256" "2025-01-20 19:27:55" "" "" "SEQ" "DNA" "blood" "" "0000467252" "00465604" "1" "03256" "03256" "2025-05-25 09:54:24" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{geneid}}" "0000050171" "KNG1" "0000050219" "KNG1" "0000050269" "KNG1" "0000230991" "KNG1" "0000230991" "SERPING1" "0000363116" "KNG1" "0000363117" "KNG1" "0000363118" "KNG1" "0000363119" "KNG1" "0000414229" "KNG1" "0000419159" "KNG1" "0000419663" "KNG1" "0000430084" "KNG1" "0000430085" "KNG1" "0000430086" "KNG1" "0000430153" "KNG1" "0000431563" "KNG1" "0000431572" "KNG1" "0000431588" "KNG1" "0000431589" "KNG1" "0000431590" "KNG1" "0000431638" "KNG1" "0000431639" "KNG1" "0000445919" "KNG1" "0000449627" "KNG1" "0000449739" "KNG1" "0000455073" "KNG1" "0000461812" "KNG1" "0000467252" "KNG1" ## 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 = 37 "{{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}}" "0000079123" "3" "90" "3" "186461524" "186461524" "subst" "0.0292653" "00006" "KNG1_000001" "g.186461524C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.186743735C>T" "" "pathogenic" "" "0000079171" "3" "90" "3" "186461524" "186461524" "subst" "0.0292653" "00006" "KNG1_000001" "g.186461524C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.186743735C>T" "" "pathogenic" "" "0000079221" "3" "90" "3" "186461524" "186461524" "subst" "0.0292653" "00006" "KNG1_000001" "g.186461524C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.186743735C>T" "" "pathogenic" "" "0000763542" "11" "90" "3" "186459905" "186459905" "subst" "0" "03256" "KNG1_000005" "g.186459905C>G" "0.000003181" "{PMID:Loules 2020:33114181} {DOI:Loules 2020:10.3390/jcm9113402}" "" "" "Incomplete penetrance: 1 family, 2 patients had recurrent attacks, also heterozygous for a ACE gene c.1459C>T;p.(Arg487Cys) variant, a third patient, had only one attack during his lifetime and did not carry the ACE variant.\r\nIntroduced as pathogenic in ClinVar; Angioedema, Hereditary, 6; HAE6" "Germline" "yes" "rs1369253342" "0" "" "" "g.186742116C>G" "{CV-SCV:001712269.1}" "pathogenic (recessive)" "ACMG" "0000763544" "0" "70" "3" "186459321" "186459321" "subst" "0" "03256" "KNG1_000004" "g.186459321T>A" "6.860E-7" "{PMID:Bork 2019:31087670} {DOI:Bork 2019:10.1111/all.13869} {DOI:Dickeson 2023:10.1182/blood.2023022254}" "" "" "c.1136T>A introduced as Class 4 variant (ACMG classification).\r\np.(Met379Lys) variant changes the N-terminal cleavage site of bradykinin from HK and Lys-bradykinin from LK. This might lead to a functionally active but abnormal bradykinin or Lys-bradykinin in HAE-KNG1, with putative change of the inactivation process by enzymes, e.g. aminopeptidase P, angiotensin-I converting enzyme, and others, possibly resulting in a prolonged half-life time and a higher than normal activity of this mutant peptide ligand.\r\nIt has been demonstrated that the Met379Lys substitution increases HK and LK susceptibility to cleavage by plasmin, resulting in release of Lys-bradykinin (kallidin). This is the second example of a mutation that could cause HAE independently of plasma kallikrein, and the first described that involves Lys-bradykinin production.\r\nIntroduced as pathogenic in ClinVar by OMIM; angioedema, hereditary, 6; HAE6" "Germline" "yes" "rs752411996" "0" "" "" "g.186741532T>A" "{CV-SCV:001712268.1}" "pathogenic" "ACMG" "0000763545" "0" "50" "3" "186435247" "186435247" "subst" "0" "03256" "KNG1_000002" "g.186435247T>A" "" "{DOI:Loules 2020:10.3390/jcm9113402}" "" "" "" "Germline" "" "rs1579107719" "0" "" "" "g.186717458T>A" "{CV:VCV000827589.1}" "VUS" "" "0000763546" "0" "50" "3" "186442906" "186442906" "subst" "0" "03256" "KNG1_000003" "g.186442906G>A" "0.0 (0/10680; ALFA Project)" "{DOI:Loules 2020:10.3390/jcm9113402}" "" "" "" "Germline" "" "rs1579116763" "0" "" "" "g.186725117G>A" "{CV:VCV000827590.1}" "VUS" "" "0000871834" "1" "70" "3" "186459350" "186459350" "subst" "1.23691E-5" "03256" "KNG1_000006" "g.186459350C>T" "0.000006211" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805} {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[1038+1G>A];[1165C>T]" "compound variant c.[1038+1G>A](;)[1165C>T]\r\nc.1165C>T has been introduced as pathogenic in ClinVar by University Medical Center Mainz Germany" "Germline" "" "rs752411996" "0" "" "" "g.186741561C>T" "{CV:VCV001803726.1}" "pathogenic (recessive)" "" "0000871835" "2" "70" "3" "186456996" "186456996" "subst" "1.62592E-5" "03256" "KNG1_000007" "g.186456996G>A" "0.000009311" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805} {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[1038+1G>A](;)[1165C>T]" "compound variants c.[1038+1G>A](;)[1165C>T] abolished expression of both HK and LK\r\nThe female compound heterozygous proband has been originally described as being prekallikrein (PK) deficient due to low PK activity (7%)\r\nVariant c.1038+1G>A introduced in ClinVar as pathogenic by Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Germany" "Germline" "" "rs377594184" "0" "" "" "g.186739207G>A" "{CV-SCV:004031440.1}" "pathogenic (recessive)" "" "0000879095" "0" "30" "3" "186461524" "186461524" "subst" "0.0292653" "03256" "KNG1_000001" "g.186461524C>T" "0.03019 (gnomAD)" "{DOI:Mathey 2022:10.3389/fgene.2022.914376} {DOI:Zhang 2023:10.1016/j.ebiom.2023.104694}" "" "NM_000893.4:c.1234C>T" "The stop variant c.*1404C>T identified by Mathey 2022 is located in exon 11, and downstream of both the bradykinin sequence and its cleavage sites. \r\nExon 11 of KNG1 encodes the unique light chain of LK, whose exact function has yet to be determined.\r\nThe consequences of the stop variant p.(Arg412Ter) are unclear.\r\nAdditionally, the variant c.*1404C>T has been shown as a risk allele that increases the stability of KNG1 mRNA, leading to increased susceptibility to HBV infection.\r\nConsidered benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge MA" "Germline" "" "rs76438938" "0" "" "" "g.186743735C>T" "{CV:VCV000403021.3}" "benign" "" "0000879791" "0" "10" "3" "186445048" "186445048" "subst" "0.000479305" "03256" "KNG1_000008" "g.186445048G>A" "0.0004597" "" "" "" "p.(Arg196Gln) variant in the cystatin kininogen-type 2 (151-254)\r\nIntroduced as likely benign with the following ACMG criteria PM1, PM1, BP1, BP2" "Unknown" "" "rs144123648" "" "" "" "g.186727259G>A" "" "likely benign (!)" "" "0000909812" "3" "90" "3" "186438006" "186438006" "subst" "0" "03256" "KNG1_000009" "g.186438006T>A" "" "{DOI:Adenaeuer 2023:10.1016/j.jtha.2022.11.011}" "" "c.[306+2T>A];[306+2T>A]" "His daughter and his son display a normal aPTT.\r\nLaboratory analyses show normal or increased levels of the intrinsic pathway factors, and decreased PK and HK.\r\nIntroduced in ClinVar as pathogenic by Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Germany" "Germline" "" "" "0" "" "" "g.186720217T>A" "{CV-SCV:004031439.1}" "pathogenic (recessive)" "" "0000909814" "3" "90" "3" "186445047" "186445047" "subst" "1.2186E-5" "03256" "KNG1_000010" "g.186445047C>T" "0.00001061 (gnomAD)" "{DOI:Nazir 2019:10.15406/htij.2019.07.00197} {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[c.586C>T];[c.586C>T]" "Intrinsic coagulation factors were within the reference range except for a borderline decreased FXI:C and PK:C, and a strongly decreased HK:C, indicating total HK deficiency.\r\nc.586C>T variant affects HK and LK expression.\r\nConsidered pathogenic by Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Germany" "Germline" "" "rs121918131" "0" "" "" "g.186727258C>T" "{CV:VCV000000572.1}" "pathogenic (recessive)" "" "0000909816" "3" "90" "3" "186445047" "186445047" "subst" "1.2186E-5" "03256" "KNG1_000010" "g.186445047C>T" "0.00001061 (gnomAD)" "{DOI:Hayashi 1990:10.1182/blood.V75.6.1296.1296} {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[c.586C>T];[c.586C>T]" "Proband sample displays normal levels of intrinsic coagulation factors, except for a slightly decreased FXI:C and PK:C, and a strongly decreased HK:C, indicating total HK deficiency.\r\nc.586C>T variant affects HK and LK expression." "Germline" "" "rs121918131" "0" "" "" "g.186727258C>T" "{CV:VCV000000572.1}" "pathogenic (recessive)" "" "0000909926" "21" "90" "3" "186456996" "186456996" "subst" "1.62592E-5" "03256" "KNG1_000007" "g.186456996G>A" "0.000009311" "{DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[718C>T];[1038+1G>A]" "A German kindred with a female symptomatic carrier of compound variants c.[718C>T];[1038+1G>A], with abolished expression of HK and LK, and her asymptomatic parents" "Germline" "" "rs377594184" "0" "" "" "g.186739207G>A" "{CV-SCV:004031440.1}" "pathogenic (recessive)" "" "0000916772" "11" "90" "3" "186449379" "186449379" "subst" "4.06355E-6" "03256" "KNG1_000011" "g.186449379C>T" "0.000006206" "{DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[718C>T];[1038+1G>A]" "A German kindred with a female symptomatic carrier of compound variants c.[718C>T];[1038+1G>A], with abolished expression of HK and LK, and her asymptomatic heterozygous parents" "Germline" "" "rs761496908" "0" "" "" "g.186731590C>T" "{CV-SCV:004031437.1}" "pathogenic (recessive)" "" "0000916773" "3" "90" "3" "186443008" "186443009" "dup" "0" "03256" "KNG1_000013" "g.186443008_186443009dup" "" "{DOI:Fukushima 2014:10.2169/internalmedicine.53.0737 } {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[523_524dup];[523_524dup]" "Proband homozygous carrier of c.[523_524dup];[523_524dup] variants does not express both HK and LK proteins\r\nHK activity is also reduced in the plasma of proband\'s three heterozygous children" "Germline" "yes" "" "0" "" "" "g.186725219_186725220dup" "" "pathogenic" "" "0000916802" "1" "90" "3" "186442973" "186442973" "del" "0" "03256" "KNG1_000012" "g.186442973del" "" "{DOI:Jeung 2020:10.3343/alm.2020.40.3.264} {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[488del];[1165C>T]" "Compound c.[488del];[1165C>T] variants abolish expression of HK and LK and function of HK" "Germline" "" "" "0" "" "" "g.186725184del" "" "pathogenic" "" "0000916803" "2" "90" "3" "186459350" "186459350" "subst" "1.23691E-5" "03256" "KNG1_000006" "g.186459350C>T" "0.000006211" "{DOI:Jeung 2020:10.3343/alm.2020.40.3.264} {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[488delG];[1165C>T]" "Compound c.[488delG];[1165C>T] variants abolish expression of Hk and LK and function of HK\r\nc.1165C>T has been introduced as pathogenic in ClinVar by University Medical Center Mainz Germany" "Germline" "" "rs752411996" "0" "" "" "g.186741561C>T" "{CV:VCV001803726.1}" "pathogenic (recessive)" "" "0000916804" "3" "90" "3" "186459678" "186459678" "del" "0" "03256" "KNG1_000016" "g.186459678del" "" "{DOI:Krijanovski 2003:10.1182/blood-2002-11-\r\n3329} {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[1493del];[1493del]" "Homozygous c.[1493del];[1493del] variants abolish HK expression. The KNG1 gene was present in the proband to direct the expression of LK of apparent normal size.\r\nHeterozygous carriers exhibit reduced antigenic HK. \r\nTruncation or frameshift at or before position 480 of the mature HK prevents biosynthesis, processing, and/or HK secretion" "Germline" "" "rs797044429" "0" "" "" "g.186741889del" "{CV:VCV000000573.1}" "pathogenic" "" "0000916805" "3" "90" "3" "186445047" "186445047" "subst" "1.2186E-5" "03256" "KNG1_000010" "g.186445047C>T" "0.00001061 (gnomAD)" "{PMID:Ishimaru 1999:10071463} {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[586C>T];[586C>T]" "Proband plasma presenting with a complete deficit of HK and LK" "Germline" "" "rs121918131" "" "" "" "g.186727258C>T" "{CV:VCV000000572.1}" "pathogenic" "" "0000916858" "3" "90" "3" "186459641" "186459641" "subst" "0" "03256" "KNG1_000015" "g.186459641C>T" "" "{DOI:Yang 2020:10.1007/s11239-020-02088-6} {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[1456C>T];[1456C>T]" "Male homozygous proband and his two homozygous sisters are presenting with a prolonged aPTT and a decreased HK expression" "Germline" "yes" "" "0" "" "" "g.186741852C>T" "" "pathogenic (recessive)" "" "0000916859" "3" "90" "3" "186459401" "186459401" "dup" "0" "03256" "KNG1_000014" "g.186459401dup" "" "{DOI:Shigekiyo 2007:10.1182/blood-2006-12-060616} {DOI:Adenaeuer 2022:10.1016/j.jtha.2022.11.011}" "" "c.[1216dup];[1216dup]" "A family with 1 homozygous symptomatic proband and 5 heterozygous asymptomatic carriers" "Germline" "" "rs797044430" "" "" "" "g.186741612dup" "{CV:VCV000000575.1}" "pathogenic (recessive)" "" "0000923884" "0" "30" "3" "186459496" "186459496" "subst" "0.000898279" "02326" "KNG1_000017" "g.186459496A>C" "" "" "" "KNG1(NM_001102416.3):c.1311A>C (p.R437S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923885" "0" "30" "3" "186459828" "186459828" "subst" "4.06775E-6" "02326" "KNG1_000018" "g.186459828T>C" "" "" "" "KNG1(NM_001102416.2):c.1643T>C (p.(Ile548Thr)), KNG1(NM_001102416.3):c.1643T>C (p.I548T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928747" "0" "30" "3" "186445048" "186445048" "subst" "0.000479305" "02326" "KNG1_000008" "g.186445048G>A" "" "" "" "KNG1(NM_001102416.3):c.587G>A (p.R196Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000954007" "0" "90" "3" "186459321" "186459321" "subst" "0" "03256" "KNG1_000004" "g.186459321T>A" "6.860E-7" "{DOI:Hardy 2023:10.1186/s13223-023-00845-9}" "" "" "This variant (class 4 ACMG) changes the N-terminal cleavage site of bradykinin from both high molecular weight (HMWK) and low molecular weight (LMWK) kininogens.The patient\'s kininogen immunoblot shows a majority of uncleaved kininogen, with a molecular weight of 120 KDa, and a minority of cleaved kininogen at 45 KDa.\r\nIntroduced in ClinVar as a pathogenic variant by OMIM; ascribed to hereditary angioedema type 6, HAE6" "Germline" "yes" "rs752411996" "0" "" "" "g.186741532T>A" "{CV-SCV:001712268}" "pathogenic" "ACMG" "0000954121" "0" "50" "3" "186435497" "186435497" "subst" "0.000459892" "03256" "KNG1_000019" "g.186435497T>G" "" "" "" "" "Introduced in ClinVar as VUS by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein" "Germline" "" "" "" "" "" "g.186717708T>G" "{CV-SCV:003807556.1}" "VUS" "" "0000960058" "0" "70" "3" "186445115" "186445115" "subst" "4.06197E-6" "03256" "KNG1_000020" "g.186445115C>A" "" "{DOI:Dias de Castro 2024:10.1016/j.anai.2024.01.027}" "" "" "Variant provisionally introduced; position must be confirmed by authors.\r\nVariant provisionally introduced as VUS pending a demonstration as causative for HAE-nC1-INH" "Germline" "" "" "0" "" "" "g.186727326C>A" "" "VUS (!)" "" "0000960175" "0" "70" "3" "186459927" "186459927" "subst" "0.415837" "03256" "KNG1_000021" "g.186459927T>C" "0.416246" "{DOI:Houlihan 2010:10.1016/j.ajhg.2010.02.016} {DOI:Morange 2011:10.1182/blood-2010-11-319053} {DOI:Li 2023:10.1016/j.jtha.2023.03.042}" "" "" "SNP associated with with a shortening of the activated partial thromboplastin time and increased susceptibility to venous thrombosis" "Germline" "" "rs710446" "0" "" "" "g.186742138T>C" "" "association" "" "0000993486" "0" "50" "3" "186459828" "186459828" "subst" "4.06775E-6" "01804" "KNG1_000018" "g.186459828T>C" "" "" "" "KNG1(NM_001102416.2):c.1643T>C (p.(Ile548Thr)), KNG1(NM_001102416.3):c.1643T>C (p.I548T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993487" "0" "50" "3" "186459929" "186459929" "subst" "1.21861E-5" "02325" "KNG1_000022" "g.186459929C>T" "" "" "" "KNG1(NM_001102416.3):c.1744C>T (p.Q582*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007056" "3" "90" "3" "186442945" "186442945" "subst" "0" "03256" "KNG1_000023" "g.186442945C>A" "" "{DOI:Chen 2024:10.3760/cma.j.cn511374-20230901-00105}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186725156C>A" "" "pathogenic (recessive)" "" "0001021177" "1" "90" "3" "186445079" "186445079" "subst" "7.71724E-5" "03256" "KNG1_000024" "g.186445079T>G" "" "{DOI:Lv 2025:10.1016/j.clinbiochem.2025.110877}" "" "c.[618T>G](;)[1165C>T]" "Compound heterozygous female carrier both c.618T>G and c.1165C>T.\r\nc.618T>G variant disrupts the disulfide bond between Cys206 and Cys218; c.1165C>T is a non-sense variant with truncation of the D5 domain of the protein." "Germline" "" "" "" "" "" "g.186727290T>G" "" "likely pathogenic" "ACMG" "0001021178" "2" "90" "3" "186459350" "186459350" "subst" "1.23691E-5" "03256" "KNG1_000006" "g.186459350C>T" "" "{DOI:Lv 2025:10.1016/j.clinbiochem.2025.110877}" "" "c.[618T>G](;)[1165C>T]" "Compound heterozygous female carrier both c.618T>G and c.1165C>T.\r\nc.618T>G variant disrupts the disulfide bond between Cys206 and Cys218; c.1165C>T is a non-sense variant with truncation of the D5 domain of the protein." "Germline" "" "" "" "" "" "g.186741561C>T" "" "pathogenic (recessive)" "ACMG" "0001033849" "0" "50" "3" "186459794" "186459795" "del" "0" "01804" "KNG1_000025" "g.186459794_186459795del" "" "" "" "KNG1(NM_001102416.3):c.1609_1610del (p.(Gln537Aspfs*25))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045050" "0" "90" "3" "186459589" "186459589" "subst" "5.70302E-5" "03256" "KNG1_000026" "g.186459589G>C" "" "{DOI:Chen 2025:10.5847/wjem.j.1920-8642.2025.060}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.186741800G>C" "" "pathogenic" "ACMG" ## 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 KNG1 ## Count = 37 "{{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}}" "0000079123" "00010735" "00" "3339" "0" "3339" "0" "c.*1404C>T" "r.(=)" "p.(=)" "" "0000079171" "00010735" "00" "3339" "0" "3339" "0" "c.*1404C>T" "r.(=)" "p.(=)" "" "0000079221" "00010735" "00" "3339" "0" "3339" "0" "c.*1404C>T" "r.(=)" "p.(=)" "" "0000763542" "00010735" "90" "1720" "0" "1720" "0" "c.1720C>G" "r.(?)" "p.(Pro574Ala)" "10" "0000763544" "00010735" "70" "1136" "0" "1136" "0" "c.1136T>A" "r.(?)" "p.(Met379Lys)" "10" "0000763545" "00010735" "50" "-85" "0" "-85" "0" "c.-85T>A" "r.(=)" "p.(=)" "_1" "0000763546" "00010735" "50" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Asp141Asn)" "4" "0000871834" "00010735" "70" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389*)" "10" "0000871835" "00010735" "70" "1038" "1" "1038" "1" "c.1038+1G>A" "r.spl" "p.?" "8i" "0000879095" "00010735" "30" "3339" "0" "3339" "0" "c.*1404C>T" "r.(?)" "p.(=)" "" "0000879791" "00010735" "10" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196Gln)" "5" "0000909812" "00010735" "90" "306" "2" "306" "2" "c.306+2T>A" "r.spl" "p.?" "2i" "0000909814" "00010735" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "5" "0000909816" "00010735" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "5" "0000909926" "00010735" "90" "1038" "1" "1038" "1" "c.1038+1G>A" "r.spl" "p.?" "8i" "0000916772" "00010735" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240*)" "6" "0000916773" "00010735" "90" "523" "0" "524" "0" "c.523_524dup" "r.(?)" "p.(Leu176Profs*8)" "4" "0000916802" "00010735" "90" "488" "0" "488" "0" "c.488del" "r.(?)" "p.(Gly163Alafs*20)" "4" "0000916803" "00010735" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389*)" "10" "0000916804" "00010735" "90" "1493" "0" "1493" "0" "c.1493del" "r.(?)" "p.(Lys498Serfs*54)" "10" "0000916805" "00010735" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "5" "0000916858" "00010735" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Gln486*)" "10" "0000916859" "00010735" "90" "1216" "0" "1216" "0" "c.1216dup" "r.(?)" "p.(His406Profs*10)" "10" "0000923884" "00010735" "30" "1311" "0" "1311" "0" "c.1311A>C" "r.(?)" "p.(Arg437Ser)" "" "0000923885" "00010735" "30" "1643" "0" "1643" "0" "c.1643T>C" "r.(?)" "p.(Ile548Thr)" "" "0000928747" "00010735" "30" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196Gln)" "" "0000954007" "00010735" "90" "1136" "0" "1136" "0" "c.1136T>A" "r.(?)" "p.(Met379Lys)" "10" "0000954121" "00010735" "50" "166" "0" "166" "0" "c.166T>G" "r.(?)" "p.(Leu56Val)" "1" "0000960058" "00010735" "70" "654" "0" "654" "0" "c.654C>A" "r.(?)" "p.(Cys218*)" "5" "0000960175" "00010735" "70" "1742" "0" "1742" "0" "c.1742T>C" "r.(?)" "p.(Ile581Thr)" "17" "0000993486" "00010735" "50" "1643" "0" "1643" "0" "c.1643T>C" "r.(?)" "p.(Ile548Thr)" "" "0000993487" "00010735" "50" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Gln582*)" "" "0001007056" "00010735" "90" "460" "0" "460" "0" "c.460C>A" "r.(?)" "p.(Pro154Thr)" "4" "0001021177" "00010735" "90" "618" "0" "618" "0" "c.618T>G" "r.(?)" "p.(Cys206Trp)" "5" "0001021178" "00010735" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389*)" "10" "0001033849" "00010735" "50" "1609" "0" "1610" "0" "c.1609_1610del" "r.(?)" "p.(Gln537Aspfs*25)" "" "0001045050" "00010735" "90" "1404" "0" "1404" "0" "c.1404G>C" "r.(1404G>C)" "p.(Gln468His)" "10" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000050171" "0000079123" "0000050219" "0000079171" "0000050269" "0000079221" "0000230991" "0000954007" "0000363116" "0000763542" "0000363117" "0000763544" "0000363118" "0000763545" "0000363119" "0000763546" "0000414229" "0000871834" "0000414229" "0000871835" "0000419159" "0000879095" "0000419663" "0000879791" "0000430084" "0000909812" "0000430085" "0000909814" "0000430086" "0000909816" "0000430153" "0000909926" "0000430153" "0000916772" "0000431563" "0000916773" "0000431572" "0000916802" "0000431588" "0000916803" "0000431589" "0000916804" "0000431590" "0000916805" "0000431638" "0000916858" "0000431639" "0000916859" "0000445919" "0000954121" "0000449627" "0000960058" "0000449739" "0000960175" "0000455073" "0001007056" "0000461812" "0001021177" "0000461812" "0001021178" "0000467252" "0001045050"