### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NPR3) # 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}}" "NPR3" "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)" "5" "p14-p13" "unknown" "NG_028162.1" "UD_132119092693" "" "https://www.LOVD.nl/NPR3" "" "1" "7945" "4883" "108962" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NPR3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-26 09:41:53" "00000" "2025-11-01 13:22:20" ## 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}}" "00025294" "NPR3" "transcript variant 1" "004" "NM_001204375.1" "" "NP_001191304.1" "" "" "" "-445" "7005" "1626" "32711438" "32791830" "00006" "2018-06-26 09:46:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00164697" "" "" "" "3" "" "02497" "" "" "M" "no" "Netherlands" "" "0" "yes" "" "white" "" "00164705" "" "" "00164697" "1" "" "02497" "" "" "M" "no" "Netherlands" "" "0" "" "" "white" "" "00164706" "" "" "" "1" "" "02497" "" "" "?" "yes" "" "" "0" "" "" "" "" "00164707" "" "" "" "1" "" "02497" "" "" "F" "yes" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00164697" "00198" "00164705" "00198" "00164706" "00198" "00164707" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 4 "{{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}}" "0000129736" "00343" "00164697" "02497" "Familial, autosomal recessive" "" "HP:0000098, HP:0001166, HP:0001724, HP:0001382" "" "" "" "" "" "" "" "" "" "" "" "0000129744" "00198" "00164705" "02497" "Familial, autosomal recessive" "" "HP:0000098, HP:0001166, HP:0001724, HP:0001382" "" "" "" "" "" "" "" "" "" "" "" "0000129745" "00198" "00164706" "02497" "Familial, autosomal recessive" "" "HP:0001382, HP:0000098, HP:0001724, HP:0001166, HP:0030084, HP:0000545" "" "" "" "" "" "" "" "" "" "" "" "0000129746" "00198" "00164707" "02497" "Familial, autosomal recessive" "" "HP:0000098, HP:0001166" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165564" "00164697" "1" "02497" "02497" "2018-06-05 11:33:30" "" "" "SEQ;SEQ-NG-I" "DNA" "" "WES" "0000165571" "00164705" "1" "02497" "02497" "2018-06-05 12:35:13" "" "" "SEQ;SEQ-NG-I" "DNA" "" "WES" "0000165573" "00164706" "1" "02497" "02497" "2018-06-05 12:59:05" "" "" "SEQ" "DNA" "" "" "0000165574" "00164707" "1" "02497" "02497" "2018-06-05 13:05:31" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000165573" "NPR3" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 54 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000330302" "0" "50" "5" "32783096" "32783096" "subst" "0.00168963" "01804" "NPR3_000001" "g.32783096G>A" "" "" "" "NPR3(NM_000908.3):c.1388G>A (p.(Arg463Gln)), NPR3(NM_001204375.2):c.1388G>A (p.R463Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32782990G>A" "" "VUS" "" "0000369288" "11" "90" "5" "32712324" "32712324" "subst" "0" "02497" "NPR3_000003" "g.32712324T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.32712218T>C" "" "pathogenic (recessive)" "" "0000369292" "21" "90" "5" "32786349" "32786349" "del" "4.83624E-6" "02497" "NPR3_000004" "g.32786349del" "" "" "" "NM_000908.3:c.1524delC" "" "CLASSIFICATION record" "yes" "rs753386861" "0" "" "" "g.32786243del" "" "pathogenic (recessive)" "" "0000369295" "0" "90" "5" "32712324" "32712324" "subst" "0" "02497" "NPR3_000003" "g.32712324T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.32712218T>C" "" "pathogenic (recessive)" "" "0000369296" "21" "90" "5" "32786349" "32786349" "del" "4.83624E-6" "02497" "NPR3_000004" "g.32786349del" "" "" "" "NM_000908.3:c.1521delC" "" "Germline" "yes" "rs753386861" "0" "" "" "g.32786243del" "" "pathogenic" "" "0000369298" "3" "90" "5" "32774842" "32774842" "subst" "0" "02497" "NPR3_000005" "g.32774842A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.32774736A>T" "" "pathogenic (recessive)" "" "0000369299" "3" "90" "5" "32712130" "32712130" "del" "0" "02497" "NPR3_000002" "g.32712130del" "" "" "" "248delT" "" "Germline" "" "" "0" "" "" "g.32712024del" "" "pathogenic (recessive)" "" "0000525536" "0" "30" "5" "32710896" "32710896" "subst" "0.0210424" "01804" "NPR3_000006" "g.32710896G>A" "" "" "" "NPR3(NM_000908.3):c.-987G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32710790G>A" "" "likely benign" "" "0000525538" "0" "70" "5" "32739020" "32739020" "subst" "0" "01804" "NPR3_000008" "g.32739020G>A" "" "" "" "NPR3(NM_001204375.1):c.943G>A (p.(Ala315Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32738914G>A" "" "likely pathogenic" "" "0000525539" "0" "70" "5" "32783002" "32783002" "subst" "0" "01804" "NPR3_000009" "g.32783002A>T" "" "" "" "NPR3(NM_000908.3):c.1294A>T (p.(Ile432Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32782896A>T" "" "likely pathogenic" "" "0000525540" "0" "30" "5" "32784907" "32784907" "subst" "0.00199171" "01804" "NPR3_000010" "g.32784907G>A" "" "" "" "NPR3(NM_000908.3):c.1429G>A (p.(Gly477Ser)), NPR3(NM_001204375.2):c.1432G>A (p.G478S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32784801G>A" "" "likely benign" "" "0000609691" "0" "30" "5" "32780903" "32780903" "subst" "4.06928E-6" "01804" "NPR3_000011" "g.32780903T>C" "" "" "" "NPR3(NM_000908.3):c.1271T>C (p.(Val424Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32780797T>C" "" "likely benign" "" "0000609692" "0" "30" "5" "32784997" "32784997" "subst" "0.000276394" "01804" "NPR3_000012" "g.32784997C>T" "" "" "" "NPR3(NM_000908.3):c.1511+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32784891C>T" "" "likely benign" "" "0000677498" "0" "50" "5" "32774832" "32774832" "subst" "0" "01804" "NPR3_000013" "g.32774832G>A" "" "" "" "NPR3(NM_000908.3):c.1078G>A (p.(Gly360Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677499" "0" "30" "5" "32780930" "32780930" "subst" "2.04365E-5" "01804" "NPR3_000014" "g.32780930C>T" "" "" "" "NPR3(NM_000908.3):c.1290+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689506" "0" "30" "5" "32724855" "32724855" "subst" "4.06141E-5" "01804" "NPR3_000015" "g.32724855C>T" "" "" "" "NPR3(NM_000908.3):c.821C>T (p.(Ala274Val)), NPR3(NM_001204375.2):c.821C>T (p.A274V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720397" "0" "50" "5" "32780905" "32780905" "subst" "8.13915E-6" "01943" "NPR3_000016" "g.32780905G>A" "" "" "" "NPR3(NM_001204375.2):c.1273G>A (p.E425K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720398" "0" "50" "5" "32784907" "32784907" "subst" "0.00199171" "01943" "NPR3_000010" "g.32784907G>A" "" "" "" "NPR3(NM_000908.3):c.1429G>A (p.(Gly477Ser)), NPR3(NM_001204375.2):c.1432G>A (p.G478S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802064" "0" "50" "5" "32724855" "32724855" "subst" "4.06141E-5" "01943" "NPR3_000015" "g.32724855C>T" "" "" "" "NPR3(NM_000908.3):c.821C>T (p.(Ala274Val)), NPR3(NM_001204375.2):c.821C>T (p.A274V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802065" "0" "30" "5" "32739028" "32739028" "subst" "1.62485E-5" "02329" "NPR3_000017" "g.32739028G>A" "" "" "" "NPR3(NM_001204375.2):c.951G>A (p.S317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802066" "0" "70" "5" "32774944" "32774944" "subst" "0" "01804" "NPR3_000018" "g.32774944T>C" "" "" "" "NPR3(NM_000908.3):c.1190T>C (p.(Phe397Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802067" "0" "50" "5" "32780909" "32780909" "subst" "0" "01804" "NPR3_000019" "g.32780909C>A" "" "" "" "NPR3(NM_000908.3):c.1277C>A (p.(Ala426Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802068" "0" "50" "5" "32783096" "32783096" "subst" "0.00168963" "01943" "NPR3_000001" "g.32783096G>A" "" "" "" "NPR3(NM_000908.3):c.1388G>A (p.(Arg463Gln)), NPR3(NM_001204375.2):c.1388G>A (p.R463Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802069" "0" "30" "5" "32784996" "32784999" "del" "0" "01943" "NPR3_000020" "g.32784996_32784999del" "" "" "" "NPR3(NM_001204375.2):c.1514+7_1514+10delACGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802070" "0" "50" "5" "32786413" "32786413" "subst" "0.000961935" "01943" "NPR3_000021" "g.32786413C>T" "" "" "" "NPR3(NM_001204375.2):c.1588C>T (p.R530W, p.(Arg530Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850892" "0" "30" "5" "32710867" "32710867" "subst" "0.00174666" "01943" "NPR3_000022" "g.32710867G>A" "" "" "" "NPR3(NM_001363652.1):c.99G>A (p.R33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850893" "0" "10" "5" "32724856" "32724856" "subst" "0.00172624" "02329" "NPR3_000025" "g.32724856G>A" "" "" "" "NPR3(NM_001204375.2):c.822G>A (p.A274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850894" "0" "30" "5" "32739040" "32739040" "subst" "0" "01943" "NPR3_000028" "g.32739040A>T" "" "" "" "NPR3(NM_001204375.2):c.963A>T (p.T321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850895" "0" "10" "5" "32784939" "32784939" "subst" "0.00126773" "02329" "NPR3_000029" "g.32784939C>T" "" "" "" "NPR3(NM_001204375.2):c.1464C>T (p.(Val488=), p.V488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859907" "0" "10" "5" "32712831" "32712831" "subst" "0" "01943" "NPR3_000023" "g.32712831C>T" "" "" "" "NPR3(NM_001204375.2):c.769+180C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859908" "0" "10" "5" "32716535" "32716535" "subst" "0" "01943" "NPR3_000024" "g.32716535C>T" "" "" "" "NPR3(NM_001204375.2):c.769+3884C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859909" "0" "10" "5" "32725072" "32725072" "subst" "0" "01943" "NPR3_000026" "g.32725072T>C" "" "" "" "NPR3(NM_001204375.2):c.892+146T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859910" "0" "10" "5" "32738886" "32738886" "subst" "0" "01943" "NPR3_000027" "g.32738886G>A" "" "" "" "NPR3(NM_001204375.2):c.893-84G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886802" "0" "30" "5" "32712410" "32712410" "subst" "4.1062E-6" "02329" "NPR3_000030" "g.32712410C>G" "" "" "" "NPR3(NM_001204375.2):c.528C>G (p.(Arg176=), p.R176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886803" "0" "10" "5" "32724942" "32724942" "subst" "0.00182274" "02329" "NPR3_000031" "g.32724942C>A" "" "" "" "NPR3(NM_001204375.2):c.892+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886804" "0" "30" "5" "32774840" "32774840" "subst" "0.000296719" "02329" "NPR3_000032" "g.32774840C>T" "" "" "" "NPR3(NM_001204375.2):c.1086C>T (p.H362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886805" "0" "30" "5" "32784924" "32784924" "subst" "0.000361642" "02329" "NPR3_000033" "g.32784924A>G" "" "" "" "NPR3(NM_001204375.2):c.1449A>G (p.A483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912313" "0" "30" "5" "32783096" "32783096" "subst" "0.00168963" "02329" "NPR3_000001" "g.32783096G>A" "" "" "" "NPR3(NM_000908.3):c.1388G>A (p.(Arg463Gln)), NPR3(NM_001204375.2):c.1388G>A (p.R463Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912314" "0" "70" "5" "32786374" "32786374" "del" "0" "02329" "NPR3_000034" "g.32786374del" "" "" "" "NPR3(NM_001204375.2):c.1549delC (p.Q517Sfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929069" "0" "30" "5" "32783220" "32783220" "subst" "0" "02329" "NPR3_000035" "g.32783220C>T" "" "" "" "NPR3(NM_001204375.2):c.1426+86C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948546" "0" "30" "5" "32725160" "32725160" "subst" "0" "02329" "NPR3_000036" "g.32725160C>G" "" "" "" "NPR3(NM_001204375.2):c.892+234C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948547" "0" "30" "5" "32774858" "32774858" "subst" "0.000479644" "02329" "NPR3_000037" "g.32774858C>T" "" "" "" "NPR3(NM_001204375.2):c.1104C>T (p.Y368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948548" "0" "30" "5" "32780859" "32780859" "subst" "6.10213E-5" "02329" "NPR3_000038" "g.32780859C>T" "" "" "" "NPR3(NM_001204375.2):c.1227C>T (p.N409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963595" "0" "30" "5" "32724635" "32724635" "subst" "0" "02329" "NPR3_000039" "g.32724635G>A" "" "" "" "NPR3(NM_001204375.2):c.770-169G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025092" "0" "70" "5" "32712409" "32712409" "subst" "0" "02329" "NPR3_000040" "g.32712409G>T" "" "" "" "NPR3(NM_001204375.2):c.527G>T (p.R176L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025093" "0" "30" "5" "32784907" "32784907" "subst" "0.00199171" "02329" "NPR3_000010" "g.32784907G>A" "" "" "" "NPR3(NM_000908.3):c.1429G>A (p.(Gly477Ser)), NPR3(NM_001204375.2):c.1432G>A (p.G478S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035176" "0" "30" "5" "32712110" "32712110" "subst" "1.65386E-5" "02329" "NPR3_000041" "g.32712110C>A" "" "" "" "NPR3(NM_001204375.2):c.228C>A (p.I76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035177" "0" "30" "5" "32712119" "32712119" "subst" "0.00971244" "01804" "NPR3_000042" "g.32712119T>C" "" "" "" "NPR3(NM_001204375.2):c.237T>C (p.(Ala79=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035178" "0" "30" "5" "32712410" "32712410" "subst" "4.1062E-6" "01804" "NPR3_000030" "g.32712410C>G" "" "" "" "NPR3(NM_001204375.2):c.528C>G (p.(Arg176=), p.R176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035179" "0" "50" "5" "32780858" "32780858" "subst" "1.22026E-5" "01804" "NPR3_000043" "g.32780858A>G" "" "" "" "NPR3(NM_001204375.2):c.1226A>G (p.(Asn409Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051932" "0" "30" "5" "32739136" "32739136" "subst" "4.88607E-5" "01804" "NPR3_000044" "g.32739136C>T" "" "" "" "NPR3(NM_001204375.2):c.1059C>T (p.(Tyr353=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051933" "0" "50" "5" "32783134" "32783134" "subst" "0" "01804" "NPR3_000045" "g.32783134T>C" "" "" "" "NPR3(NM_001204375.2):c.1426T>C (p.(Ser476Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051934" "0" "30" "5" "32784939" "32784939" "subst" "0.00126773" "01804" "NPR3_000029" "g.32784939C>T" "" "" "" "NPR3(NM_001204375.2):c.1464C>T (p.(Val488=), p.V488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051935" "0" "30" "5" "32786413" "32786413" "subst" "0.000961935" "01804" "NPR3_000021" "g.32786413C>T" "" "" "" "NPR3(NM_001204375.2):c.1588C>T (p.R530W, p.(Arg530Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NPR3 ## Count = 54 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000330302" "00025294" "50" "1388" "0" "1388" "0" "c.1388G>A" "r.(?)" "p.(Arg463Gln)" "" "0000369288" "00025294" "90" "442" "0" "442" "0" "c.442T>C" "r.(?)" "p.(Ser148Pro)" "" "0000369292" "00025294" "90" "1524" "0" "1524" "0" "c.1524del" "r.(?)" "p.(Tyr508*)" "" "0000369295" "00025294" "00" "442" "0" "442" "0" "c.442T>C" "r.(?)" "p.(Ser148Pro)" "" "0000369296" "00025294" "00" "1524" "0" "1524" "0" "c.1524del" "r.(?)" "p.(Tyr508*)" "" "0000369298" "00025294" "00" "1088" "0" "1088" "0" "c.1088A>T" "r.(?)" "p.(Asp363Val)" "" "0000369299" "00025294" "90" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Val83Glyfs*105)" "" "0000525536" "00025294" "30" "-987" "0" "-987" "0" "c.-987G>A" "r.(?)" "p.(=)" "" "0000525538" "00025294" "70" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Ala315Thr)" "" "0000525539" "00025294" "70" "1294" "0" "1294" "0" "c.1294A>T" "r.(?)" "p.(Ile432Phe)" "" "0000525540" "00025294" "30" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Gly478Ser)" "" "0000609691" "00025294" "30" "1271" "0" "1271" "0" "c.1271T>C" "r.(?)" "p.(Val424Ala)" "" "0000609692" "00025294" "30" "1514" "8" "1514" "8" "c.1514+8C>T" "r.(=)" "p.(=)" "" "0000677498" "00025294" "50" "1078" "0" "1078" "0" "c.1078G>A" "r.(?)" "p.(Gly360Arg)" "" "0000677499" "00025294" "30" "1290" "8" "1290" "8" "c.1290+8C>T" "r.(=)" "p.(=)" "" "0000689506" "00025294" "30" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Ala274Val)" "" "0000720397" "00025294" "50" "1273" "0" "1273" "0" "c.1273G>A" "r.(?)" "p.(Glu425Lys)" "" "0000720398" "00025294" "50" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Gly478Ser)" "" "0000802064" "00025294" "50" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Ala274Val)" "" "0000802065" "00025294" "30" "951" "0" "951" "0" "c.951G>A" "r.(?)" "p.(Ser317=)" "" "0000802066" "00025294" "70" "1190" "0" "1190" "0" "c.1190T>C" "r.(?)" "p.(Phe397Ser)" "" "0000802067" "00025294" "50" "1277" "0" "1277" "0" "c.1277C>A" "r.(?)" "p.(Ala426Glu)" "" "0000802068" "00025294" "50" "1388" "0" "1388" "0" "c.1388G>A" "r.(?)" "p.(Arg463Gln)" "" "0000802069" "00025294" "30" "1514" "7" "1514" "10" "c.1514+7_1514+10del" "r.(=)" "p.(=)" "" "0000802070" "00025294" "50" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Trp)" "" "0000850892" "00025294" "30" "-1016" "0" "-1016" "0" "c.-1016G>A" "r.(?)" "p.(=)" "" "0000850893" "00025294" "10" "822" "0" "822" "0" "c.822G>A" "r.(?)" "p.(Ala274=)" "" "0000850894" "00025294" "30" "963" "0" "963" "0" "c.963A>T" "r.(?)" "p.(Thr321=)" "" "0000850895" "00025294" "10" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Val488=)" "" "0000859907" "00025294" "10" "769" "180" "769" "180" "c.769+180C>T" "r.(=)" "p.(=)" "" "0000859908" "00025294" "10" "769" "3884" "769" "3884" "c.769+3884C>T" "r.(=)" "p.(=)" "" "0000859909" "00025294" "10" "892" "146" "892" "146" "c.892+146T>C" "r.(=)" "p.(=)" "" "0000859910" "00025294" "10" "893" "-84" "893" "-84" "c.893-84G>A" "r.(=)" "p.(=)" "" "0000886802" "00025294" "30" "528" "0" "528" "0" "c.528C>G" "r.(?)" "p.(Arg176=)" "" "0000886803" "00025294" "10" "892" "16" "892" "16" "c.892+16C>A" "r.(=)" "p.(=)" "" "0000886804" "00025294" "30" "1086" "0" "1086" "0" "c.1086C>T" "r.(?)" "p.(His362=)" "" "0000886805" "00025294" "30" "1449" "0" "1449" "0" "c.1449A>G" "r.(?)" "p.(Ala483=)" "" "0000912313" "00025294" "30" "1388" "0" "1388" "0" "c.1388G>A" "r.(?)" "p.(Arg463Gln)" "" "0000912314" "00025294" "70" "1549" "0" "1549" "0" "c.1549del" "r.(?)" "p.(Gln517Serfs*24)" "" "0000929069" "00025294" "30" "1426" "86" "1426" "86" "c.1426+86C>T" "r.(=)" "p.(=)" "" "0000948546" "00025294" "30" "892" "234" "892" "234" "c.892+234C>G" "r.(=)" "p.(=)" "" "0000948547" "00025294" "30" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(=)" "" "0000948548" "00025294" "30" "1227" "0" "1227" "0" "c.1227C>T" "r.(?)" "p.(=)" "" "0000963595" "00025294" "30" "770" "-169" "770" "-169" "c.770-169G>A" "r.(=)" "p.(=)" "" "0001025092" "00025294" "70" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0001025093" "00025294" "30" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Gly478Ser)" "" "0001035176" "00025294" "30" "228" "0" "228" "0" "c.228C>A" "r.(?)" "p.(=)" "" "0001035177" "00025294" "30" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(=)" "" "0001035178" "00025294" "30" "528" "0" "528" "0" "c.528C>G" "r.(?)" "p.(Arg176=)" "" "0001035179" "00025294" "50" "1226" "0" "1226" "0" "c.1226A>G" "r.(?)" "p.(Asn409Ser)" "" "0001051932" "00025294" "30" "1059" "0" "1059" "0" "c.1059C>T" "r.(?)" "p.(=)" "" "0001051933" "00025294" "50" "1426" "0" "1426" "0" "c.1426T>C" "r.(?)" "p.(Ser476Pro)" "" "0001051934" "00025294" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Val488=)" "" "0001051935" "00025294" "30" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000165564" "0000369288" "0000165564" "0000369292" "0000165571" "0000369295" "0000165571" "0000369296" "0000165573" "0000369298" "0000165574" "0000369299"