### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CPN1) # 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}}" "CPN1" "carboxypeptidase N, polypeptide 1" "10" "q24.2" "unknown" "NG_012060.1" "UD_132118332654" "" "https://www.LOVD.nl/CPN1" "" "1" "2312" "1369" "603103" "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/CPN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-11-30 13:50:00" "03256" "2025-06-05 16:12:56" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005605" "CPN1" "carboxypeptidase N, polypeptide 1" "001" "NM_001308.2" "" "NP_001299.1" "" "" "" "-260" "1496" "1377" "101841642" "101802065" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01177" "HAE1;HAE2" "angioedema, hereditary, type 1" "AD;AR" "106100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-03-13 09:32:51" "01691" "CPN1D" "carboxypeptidase N deficiency (CPN1D)" "AR" "212070" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-11-30 13:51:21" "02963" "HAE3" "angioedema, hereditary, type 3" "AD" "610618" "" "" "" "00006" "2014-09-25 23:29:40" "03256" "2025-04-09 18:11:52" "05979" "FCAS1" "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1" "AD" "" "" "" "" "03256" "2021-10-22 11:16:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CPN1" "01691" "CPN1" "05979" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00269572" "" "" "" "1" "" "00006" "{PMID:Cao 2003:12560874}, {PMID:Mathews 1980:7437116}" "2-generation family, 1 affected" "M" "" "United States" "" "0" "" "" "" "Patient" "00359618" "" "" "" "2" "" "03256" "{DOI:Loules 2020:10.3390/jcm911340}" "" "F" "" "Hungary" "" "0" "" "" "" "" "00361851" "" "" "" "1" "" "03256" "" "" "" "" "" "" "0" "" "" "" "" "00361942" "" "" "" "1" "" "03256" "" "" "" "" "" "" "0" "" "" "" "" "00361943" "" "" "" "1" "" "03256" "" "" "" "" "" "" "0" "" "" "" "" "00361992" "" "" "" "1" "" "03256" "" "" "" "" "France" "" "0" "" "" "" "" "00362269" "" "" "" "3" "" "03256" "{DOI:Vincent 2024:10.1016/j.jacig.2024.100223}" "One French family with 3 compound heterozygous carriers in cis has been shown as presenting a Carboxypeptidase N deficiency" "F" "no" "France" "" "0" "" "" "" "" "00362270" "" "" "" "3" "" "03256" "{DOI:Vincent 2024:10.1016/j.jacig.2024.100223}" "A French family with compound heterozygous female proband has been shown as presenting a carboxypeptidase N deficiency with a decreased circulating kallikrein activity." "F" "no" "France" "" "0" "" "" "" "" "00382956" "" "" "" "1" "" "03256" "" "" "F" "no" "France" "" "0" "" "" "" "" "00398669" "" "" "" "1" "" "03256" "{DOI:Germenis 2018:0000-0002-3315-6947}" "" "F" "" "Bulgaria" "" "0" "" "" "" "" "00464644" "" "" "" "3" "" "03256" "{DOI:Hida 2025:10.1016/j.alit.2025.01.002}" "Single family with 3 affected heterozygous carriers" "F" "no" "Japan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00269572" "01691" "00359618" "02963" "00361851" "01691" "00361942" "01691" "00361943" "01691" "00361992" "01691" "00362269" "01691" "00362270" "01691" "00382956" "02963" "00398669" "01177" "00464644" "01691" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01177, 01691, 02963, 05979 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000207398" "01691" "00269572" "00006" "Familial, autosomal recessive" "65y" "see paper; ..., angioedema occurring once weekly, attacks lasted 24h and most often involved face and tongue, but sometimes large regions of pruritic red swellings on trunk or limbs" "54y" "" "" "" "" "" "" "" "carboxypeptidase N deficiency" "0000254891" "02963" "00359618" "03256" "Familial" "" "Proband presenting with a HAE with normal C1 inhibitor and non identified type" "" "" "" "" "" "" "" "" "" "0000257243" "02963" "00361851" "03256" "Familial" "" "no record of a clinical phenotype for the proband carrying c.759+1G>A variant" "" "" "" "" "" "" "" "" "" "0000257333" "01691" "00361942" "03256" "Unknown" "" "no information on the proband clinical phenotype" "" "" "" "" "" "" "" "" "" "0000257335" "01691" "00361943" "03256" "Unknown" "" "no record of a clinical phenotype for the c.1150_1154dup variant" "" "" "" "" "" "" "" "" "" "0000257385" "01691" "00361992" "03256" "Familial" "" "Proband presenting with a CPN deficiency clinical phenotype, i.e. association of chronic urticaria and angioedema" "" "" "" "" "" "" "" "" "" "0000257680" "01691" "00362269" "03256" "Familial" "" "Proband presenting with chronic spontaneous urticaria and angioedema" "" "" "" "" "" "" "" "" "" "0000257681" "02963" "00362270" "03256" "Familial" "" "Probands presenting with chronic spontaneous urticaria and angioedema" "" "" "" "" "" "" "" "" "" "0000276811" "02963" "00382956" "03256" "Familial" "" "Proband in a family with carboxypeptidase N deficiency and presenting with urticaria and angioedema" "" "" "" "" "" "" "" "" "" "0000291751" "01177" "00398669" "03256" "Familial" "" "Proband presenting with a PLG-HAE with normal C1-INH function" "" "" "" "" "" "" "" "" "" "0000350632" "01691" "00464644" "03256" "Familial" "" "Female proband presenting with a HAE-CPN phenotype" "" "36y" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000270728" "00269572" "1" "00006" "00006" "2019-11-30 13:58:45" "" "" "SEQ" "DNA" "" "" "0000360848" "00359618" "1" "03256" "03256" "2021-04-02 10:26:50" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000363080" "00361851" "1" "03256" "03256" "2021-04-11 15:58:57" "" "" "SEQ" "DNA" "" "" "0000363170" "00361942" "1" "03256" "03256" "2021-04-13 09:38:33" "" "" "?" "DNA" "" "" "0000363172" "00361943" "1" "03256" "03256" "2021-04-13 09:45:23" "" "" "?" "DNA" "" "" "0000363220" "00361992" "1" "03256" "03256" "2021-04-13 11:47:47" "" "" "SEQ" "DNA" "" "" "0000363498" "00362269" "1" "03256" "03256" "2021-04-20 10:32:56" "" "" "SEQ" "DNA" "blood" "" "0000363499" "00362270" "1" "03256" "03256" "2021-04-20 11:49:26" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000384178" "00382956" "1" "03256" "03256" "2021-09-15 11:56:43" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000399910" "00398669" "1" "03256" "03256" "2022-01-09 19:16:55" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000466290" "00464644" "1" "03256" "03256" "2025-04-07 17:42:38" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000270728" "CPN1" "0000360848" "SERPING1" "0000363080" "CPN1" "0000363170" "CPN1" "0000363172" "CPN1" "0000363220" "CPN1" "0000363498" "CPN1" "0000363499" "KLKB1" "0000384178" "CPN1" "0000399910" "CPN1" "0000466290" "CPN1" ## 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 = 17 "{{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}}" "0000538862" "0" "10" "10" "101841153" "101841153" "subst" "0.869684" "02325" "CPN1_000001" "g.101841153A>G" "" "" "" "CPN1(NM_001308.3):c.223+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100081396A>G" "" "benign" "" "0000604531" "1" "97" "10" "101841210" "101841210" "dup" "0" "00006" "CPN1_000002" "g.101841210dup" "" "{PMID:Cao 2003:12560874}" "" "385fsInsG" "" "Germline" "" "" "0" "" "" "g.100081453dup" "" "pathogenic (recessive)" "" "0000604532" "2" "90" "10" "101829514" "101829514" "subst" "0.0423289" "00006" "CPN1_000003" "g.101829514C>T" "3.4E-03" "{PMID:Cao 2003:12560874}" "" "746G>A" "Controversy: introduced in ClinVar as pathogenic by OMIM and as benign by Mendelics, Sao Paulo Brazil" "Germline" "" "rs61751507" "0" "" "" "g.100069757C>T" "{CV-SCV:000006623.5}" "pathogenic (recessive)" "" "0000604533" "0" "30" "10" "101841154" "101841154" "subst" "0" "00006" "CPN1_000004" "g.101841154A>G" "0.051 in controls" "{PMID:Cao 2003:12560874}" "" "IVS1+6T>C" "variant found in 13 controls" "Germline" "" "" "0" "" "" "g.100081397A>G" "" "likely benign" "" "0000763329" "0" "50" "10" "101808526" "101808526" "subst" "0" "03256" "CPN1_000005" "g.101808526C>T" "" "{DOI:Loules 2020:10.3390/jcm9113402}" "" "" "nlC1-INH-HAE association. Variant c.1219G>A in combination with other alleles: BDKRB1, c.844C>T; SERPING1, c.*57C>G; PLAUR, c.2039T>C;p.(Met268Val); MASP1, c.2039T>C;p.(Val680Ala); MPO, c.1571G>A;p.(Arg524His); TLR4, c.842G>A;p.(Cys281Tyr)" "Germline" "" "rs1589470177" "0" "" "" "g.100048769C>T" "{CV:VCV000827594.1}" "VUS" "" "0000763383" "2" "90" "10" "101829514" "101829514" "subst" "0.0423289" "03256" "CPN1_000003" "g.101829514C>T" "3.4E-3" "{DOI:Cao 2003:10.1007/s100380300003}" "" "746G>A" "Gly178 is a highly conserved residue in different species and many carboxypeptidases in human.\r\np.(Gly178Asp) is predicted as possibly damaging (PolyPhen) and deleterious (SIFT).\r\nCPN deficiency is manifested as urticaria and angioedema when homozygous or compound heterozygous carrier of pathogenic/likely pathogenic CPN1 variant.\r\nEarly expression of CPN1, CPM and Crry in mouse embryo, before C3, suggest that complement regulation will be functional before complement activation can occur. Full expression of CPN during pregnancy makes bradykinin clearance important.\r\nControversy: introduced in ClinVar as pathogenic by OMIM and as benign by Mendelics, Sao Paulo Brazil" "Germline" "" "rs61751507" "0" "" "" "g.100069757C>T" "{CV-SCV:000027198}" "pathogenic (recessive)" "" "0000763498" "11" "70" "10" "101824944" "101824944" "subst" "3.68747E-5" "03256" "CPN1_000007" "g.101824944C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100065187C>T" "{CV:VCV001031968.1}" "pathogenic" "ACMG" "0000763621" "0" "70" "10" "101823483" "101823483" "subst" "2.03446E-5" "03256" "CPN1_000008" "g.101823483C>T" "" "" "" "" "single record" "Germline/De novo (untested)" "" "" "0" "" "" "g.100063726C>T" "{CV:VCV001031969.1}" "pathogenic" "" "0000763679" "0" "50" "10" "101808591" "101808595" "dup" "0" "03256" "CPN1_000009" "g.101808591_101808595dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.100048834_100048838dup" "" "pathogenic" "ACMG" "0000763688" "1" "99" "10" "101829514" "101829514" "subst" "0.0423289" "03256" "CPN1_000003" "g.101829514C>T" "3.4E-03" "{DOI:Vincent 2024:10.1016/j.jacig.2024.100223}" "" "c.[533G>A];[734C>T]" "Both variants are predicted to be deleterious (SIFT), damaging (ClinPred) and probably damaging (PolyPhen), polymorphic for p.(Gly178Asp) or disease-causing for p.(Thr245Met) according to MutationTaster (Table 3). The observations of both variations meet the ACMG criteria PS3, PS4, PM1, PM2, PP3, PP4, PP5, and BP6 specifically for p.(Gly178Asp), along with a pathogenic (recessive) characterization as evaluated by InterVar.\r\nControversy: introduced in ClinVar as pathogenic by OMIM and as benign by Mendelics, Sao Paulo Brazil" "Germline" "yes" "rs61751507" "0" "" "" "g.100069757C>T" "{CV-SCV:000027198}" "pathogenic (recessive)" "ACMG" "0000763690" "2" "77" "10" "101824970" "101824970" "subst" "7.73855E-5" "03256" "CPN1_000010" "g.101824970G>A" "0.00002" "{DOI:Vincent 2024:10.1016/j.jacig.2024.100223}" "" "986C>T" "Thr245 is a conserved residue among species and with CPM.\r\np.(Thr245Met) meets ACMG criteria PS3, PS4, PM1, PM3, PP3, PP4, PP5\r\nInformations from MoBiDic (https://mobidetails.iurc.montp.inserm.fr/MD/vars/CPN1): Predicted as damaging (0.001 SIFT), probably damaging (1.00 Polyphen2), damaging (0.753 ClinPred) and tolerated (2.72 FATHMM)\r\nProband also carrier of a rs3788853 (XPNPEP2 NM_003399.5:c.-2399C>A; NC_000023.10:g.128870791C>A) identified as a risk marker for HAE-FXII and ACEi angioedema" "Germline" "yes" "rs371070915" "0" "" "" "g.100065161G>A" "" "pathogenic (recessive)" "ACMG" "0000764195" "3" "99" "10" "101829514" "101829514" "subst" "0.0423289" "03256" "CPN1_000003" "g.101829514C>T" "3.4-03" "{DOI:Vincent 2024:10.1016/j.jacig.2024.100223}" "" "c.[533G>A];[533G>A]" "c.533G>A variant has been introduced in ClinVar as pathogenic by OMIM, Baltimore MD, and as benign by Mendelics, Sao Paulo Brazil and by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, MA." "Germline" "yes" "rs61751507" "0" "" "" "g.100069757C>T" "{CV-SCV:000538730.1}" "likely pathogenic (recessive)" "ACMG" "0000764199" "2" "77" "10" "101825122" "101825122" "subst" "3.25335E-5" "03256" "CPN1_000011" "g.101825122T>C" "5.8E-05" "{DOI:Vincent 2024:10.1016/j.jacig.2024.100223}" "" "c.[533G>A];[582A>G]" "c.582A>G variant predicted to affect splicing by activation of an exonic cryptic acceptor site (HSF 3.0).\r\nThe combination of both variants c.[533G>A];[582A>G] occurs at a frequency of 1.09E-07. The observations for c.582A>G meet the ACMG criteria PS3, PS4, PM2, PM3, PP3, and PP4, along with a characterization as pathogenic (recessive) as evaluated by InterVar." "Germline" "yes" "rs190183597" "0" "" "" "g.100065365T>C" "" "pathogenic (recessive)" "ACMG" "0000798618" "0" "30" "10" "101802262" "101802262" "subst" "0.0355395" "03256" "CPN1_000012" "g.101802262G>A" "" "" "" "" "Polymorphic variant" "Germline" "" "rs61733667" "0" "" "" "g.1000042505G>A" "" "likely benign" "" "0000832576" "0" "70" "10" "101816850" "101816850" "subst" "0" "03256" "CPN1_000013" "g.101816850A>G" "" "{DOI:Germenis 2018:0000-0002-3315-6947}" "" "" "Compound heterozygous carrier : [NM_000301.3 c.988A>G, p.(Lys330Glu)](;)[NM_001308.2 c.931T>C; p.(Cys311Arg)].\r\nc.931T>C variant is an unpublished variant, predicted as deleterious.\r\nDisruption of Cys271-Cys311 bridge, one of the two intra-chain disulfide bonds, in p.(Cys311Arg) variant product, disorganises the catalytic subunit, with expected alteration of enzymatic activity." "Germline/De novo (untested)" "" "" "0" "" "" "g.100057093A>G" "" "likely pathogenic" "" "0000922212" "2" "77" "10" "101824970" "101824970" "subst" "7.73855E-5" "03779" "CPN1_000010" "g.101824970G>A" "" "{DOI:Vincent 2024:10.1016/j.jacig.2024.100223}" "" "" "" "CLASSIFICATION record" "yes" "rs371070915" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0001030224" "0" "99" "10" "101824970" "101824970" "subst" "7.73855E-5" "03256" "CPN1_000010" "g.101824970G>A" "0.00002" "{DOI:Hida 2025:10.1016/j.alit.2025.01.002}" "" "" "The variant c.734C>T is present in the proband\'s symptomatic mother but absent in the proband\'s asymptomatic brother.\r\nAdditional variants in HAE-nCINH-related genes included PLG:NM_000301:c.476C>T:p.(Pro159Leu) and KNG1:NM_001102416:c.1410T>A:p.(Gly470Gly, with allele frequencies 0.007 and 0.003, respectively, suggesting that the PLG and KNG1 variants are benign." "Germline" "yes" "rs371070915" "0" "" "" "g.100065161G>A" "" "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 CPN1 ## Count = 17 "{{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}}" "0000538862" "00005605" "10" "223" "7" "223" "7" "c.223+7T>C" "r.(=)" "p.(=)" "1i" "0000604531" "00005605" "97" "173" "0" "173" "0" "c.173dup" "r.(?)" "p.(His59Thrfs*107)" "1" "0000604532" "00005605" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Gly178Asp)" "3" "0000604533" "00005605" "30" "223" "6" "223" "6" "c.223+6T>C" "r.(=)" "p.(=)" "1i" "0000763329" "00005605" "50" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Glu407Lys)" "8" "0000763383" "00005605" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Gly178Asp)" "3" "0000763498" "00005605" "70" "759" "1" "759" "1" "c.759+1G>A" "r.spl?" "p.?" "4i" "0000763621" "00005605" "70" "760" "-1" "760" "-1" "c.760-1G>A" "r.spl?" "p.?" "4i" "0000763679" "00005605" "50" "1150" "0" "1154" "0" "c.1150_1154dup" "r.(?)" "p.(Tyr385*)" "8" "0000763688" "00005605" "99" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Gly178Asp)" "3" "0000763690" "00005605" "77" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "4" "0000764195" "00005605" "99" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Gly178Asp)" "3" "0000764199" "00005605" "77" "582" "0" "582" "0" "c.582A>G" "r.(=)" "p.(Glu194=)" "4" "0000798618" "00005605" "30" "1299" "0" "1299" "0" "c.1299C>T" "r.(=)" "p.(=)" "9" "0000832576" "00005605" "70" "931" "0" "931" "0" "c.931T>C" "r.(?)" "p.(Cys311Arg)" "6" "0000922212" "00005605" "77" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "4" "0001030224" "00005605" "99" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Thr245Met)" "4" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000270728" "0000604531" "0000270728" "0000604532" "0000270728" "0000604533" "0000360848" "0000763329" "0000363080" "0000763498" "0000363170" "0000763621" "0000363172" "0000763679" "0000363220" "0000763688" "0000363220" "0000763690" "0000363498" "0000764199" "0000363499" "0000764195" "0000384178" "0000798618" "0000399910" "0000832576" "0000466290" "0001030224"