### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CORIN) # 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}}" "CORIN" "corin, serine peptidase" "4" "p13-p12" "unknown" "NG_032679.1" "UD_132439616766" "" "https://www.LOVD.nl/CORIN" "" "1" "19012" "10699" "605236" "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/CORIN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-11 16:28:19" "00000" "2024-08-28 13:16:32" ## 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}}" "00025227" "CORIN" "transcript variant 1" "002" "NM_006587.3" "" "NP_006578.2" "" "" "" "-157" "4852" "3129" "47840123" "47596015" "00006" "2017-08-11 15:08:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "02773" "-" "Hypertension, diastolic, resistance to" "AD" "608622" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03684" "PEE5" "preeclampsia/eclampsia, type 5 (PEE-5)" "" "614595" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CORIN" "03684" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00112647" "" "" "" "1" "" "02198" "" "" "?" "-" "China" "" "0" "" "none" "Han Chinese" "" "00117126" "" "" "" "38" "" "00006" "{PMID:Zhang 2014:25488193}" "795 hypertensive patients" "" "" "China" "" "0" "" "" "" "25488193-cases" "00117127" "" "" "" "4" "" "00006" "{PMID:Zhang 2014:25488193}" "632 normal individuals" "" "" "China" "" "0" "" "" "" "25488193-cons" "00117128" "" "" "" "176" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "cases with hypertension" "00117129" "" "" "" "2" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "cases with hypertension" "00117130" "" "" "" "5" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "cases with hypertension" "00117131" "" "" "" "145" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "cases with hypertension" "00117132" "" "" "" "19" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "cases with hypertension" "00117133" "" "" "" "1" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "cases with hypertension" "00117134" "" "" "" "1" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "cases with hypertension" "00117135" "" "" "" "153" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "controls (no hypertension)" "00117136" "" "" "" "2" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "controls (no hypertension)" "00117137" "" "" "" "3" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "controls (no hypertension)" "00117138" "" "" "" "109" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "controls (no hypertension)" "00117139" "" "" "" "3" "" "02198" "" "" "" "" "China" "" "0" "" "" "Han Chinese" "controls (no hypertension)" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00112647" "02773" "00117126" "02773" "00117127" "00000" "00117128" "02773" "00117129" "02773" "00117130" "02773" "00117131" "02773" "00117132" "02773" "00117133" "02773" "00117134" "02773" "00117135" "00000" "00117136" "00000" "00117137" "00000" "00117138" "00000" "00117139" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 02773, 03684 ## Count = 9 "{{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}}" "0000088126" "02773" "00112647" "02198" "Unknown" ">30y" "" "" ">30" "" "" "" "" "" "" "" "0000092378" "02773" "00117126" "00006" "Unknown" "" "hypertension; systolic blood pressure >140 mmHg and/or diastolic blood pressure >90 mmHg, or history of hypertension and taking anti-hypertensive drugs" "" "" "" "" "" "" "" "" "" "0000092379" "02773" "00117128" "02198" "Unknown" ">30y" "" "" ">30y" "" "" "" "" "" "" "" "0000092380" "02773" "00117129" "02198" "Unknown" ">30y" "" "" ">30y" "" "" "" "" "" "" "" "0000092381" "02773" "00117130" "02198" "Unknown" ">30y" "" "" ">30y" "" "" "" "" "" "" "" "0000092382" "02773" "00117131" "02198" "Unknown" ">30y" "" "" ">30y" "" "" "" "" "" "" "" "0000092383" "02773" "00117132" "02198" "Unknown" ">30y" "" "" ">30y" "" "" "" "" "" "" "" "0000092384" "02773" "00117133" "02198" "Unknown" ">30y" "" "" ">30y" "" "" "" "" "" "" "" "0000092385" "02773" "00117134" "02198" "Unknown" ">30y" "" "" ">30y" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000113105" "00112647" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117586" "00117126" "1" "00006" "00006" "2017-08-11 15:41:42" "" "" "SEQ" "DNA" "" "" "0000117587" "00117127" "1" "00006" "00006" "2017-08-11 15:46:51" "" "" "SEQ" "DNA" "" "" "0000117588" "00117128" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117589" "00117129" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117590" "00117130" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117591" "00117131" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117592" "00117132" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117593" "00117133" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117594" "00117134" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117595" "00117135" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117596" "00117136" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117597" "00117137" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117598" "00117138" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" "0000117599" "00117139" "1" "02198" "02198" "2017-08-04 22:18:07" "" "" "SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000113105" "CORIN" "0000117586" "CORIN" "0000117587" "CORIN" "0000117588" "CORIN" "0000117589" "CORIN" "0000117590" "CORIN" "0000117591" "CORIN" "0000117592" "CORIN" "0000117593" "CORIN" "0000117594" "CORIN" "0000117595" "CORIN" "0000117596" "CORIN" "0000117597" "CORIN" "0000117598" "CORIN" "0000117599" "CORIN" ## 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 = 39 "{{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}}" "0000181942" "0" "30" "4" "47682244" "47682244" "subst" "0" "02198" "CORIN_000002" "g.47682244C>T" "1/401 cases hypertension" "" "" "1139G>A (Arg349His)" "found in one individual with hypertension; not in 300 control individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47680227C>T" "" "likely benign" "" "0000188554" "1" "90" "4" "47839959" "47839959" "dup" "0" "00006" "CORIN_000001" "g.47839959dup" "38/795 cases hypertension" "{PMID:Zhang 2014:25488193}" "" "102_103insA" "increased frequency in cases" "Germline" "" "" "0" "" "" "g.47837942dup" "" "pathogenic" "" "0000188555" "1" "90" "4" "47839959" "47839959" "dup" "0" "00006" "CORIN_000001" "g.47839959dup" "4/632 control individuals" "{PMID:Zhang 2014:25488193}" "" "102_103insA" "" "Germline" "" "" "0" "" "" "g.47837942dup" "" "pathogenic" "" "0000188556" "0" "30" "4" "47839929" "47839929" "subst" "0.739262" "02198" "CORIN_000003" "g.47839929C>T" "176/401 cases hypertension" "" "" "131A>G (Tyr13Cys)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47837912C>T" "" "likely benign" "" "0000188557" "0" "30" "4" "47788868" "47788868" "subst" "0.000442697" "02198" "CORIN_000004" "g.47788868C>A" "2/401 cases hypertension" "" "" "376G>T (Asp95Tyr)" "present in both normal and hypertensive individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47786851C>A" "" "likely benign" "" "0000188558" "0" "30" "4" "47685768" "47685768" "subst" "0.000452216" "02198" "CORIN_000005" "g.47685768A>C" "5/401 cases hypertension" "" "" "1094T>G (Leu334Trp)" "present in both normal and hypertensive individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47683751A>C" "" "likely benign" "" "0000188559" "0" "30" "4" "47667064" "47667064" "subst" "0.873292" "02198" "CORIN_000006" "g.47667064T>C" "145/401 cases hypertension" "" "" "1667G>A (Arg525His)" "present in both normal and hypertensive individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47665047T>C" "" "likely benign" "" "0000188560" "0" "90" "4" "47663873" "47663873" "subst" "0" "02198" "CORIN_000007" "g.47663873C>A" "19/750 cases hypertension" "" "" "1683G>T (Arg530Ser)" "preferentially in hypertensive individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47661856C>A" "" "pathogenic" "" "0000188561" "0" "30" "4" "47605630" "47605630" "subst" "0.000146349" "02198" "CORIN_000008" "g.47605630G>A" "1/401 cases hypertension" "" "" "2689C>T (Pro866Ser)" "not in 300 control individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47603613G>A" "" "likely benign" "" "0000188562" "0" "90" "4" "47605455" "47605455" "subst" "5.30543E-5" "02198" "CORIN_000009" "g.47605455G>A" "1/401 cases hypertension" "" "" "2864C>T (Thr924Met)" "not in 300 control individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47603438G>A" "" "pathogenic" "" "0000188563" "0" "30" "4" "47839929" "47839929" "subst" "0.739262" "02198" "CORIN_000003" "g.47839929C>T" "153/300 in normal individuals" "" "" "131A>G (Tyr13Cys)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47837912C>T" "" "likely benign" "" "0000188564" "0" "30" "4" "47788868" "47788868" "subst" "0.000442697" "02198" "CORIN_000004" "g.47788868C>A" "2/300 normal individuals" "" "" "376G>T (Asp95Tyr)" "present in both normal and hypertensive individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47786851C>A" "" "likely benign" "" "0000188565" "0" "30" "4" "47685768" "47685768" "subst" "0.000452216" "02198" "CORIN_000005" "g.47685768A>C" "3/300 in normal individuals" "" "" "1094T>G (Leu334Trp)" "present in both normal and hypertensive individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47683751A>C" "" "likely benign" "" "0000188566" "0" "30" "4" "47667064" "47667064" "subst" "0.873292" "02198" "CORIN_000006" "g.47667064T>C" "109/300 normal individuals" "" "" "1667G>A (Arg525His)" "present in both normal and hypertensive individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47665047T>C" "" "likely benign" "" "0000188567" "0" "90" "4" "47663873" "47663873" "subst" "0" "02198" "CORIN_000007" "g.47663873C>A" "3/639 normal individuals" "" "" "1683G>T (Arg530Ser)" "preferentially in hypertensive individuals" "Germline/De novo (untested)" "" "" "0" "" "" "g.47661856C>A" "" "pathogenic" "" "0000267084" "0" "10" "4" "47667064" "47667064" "subst" "0.873292" "02325" "CORIN_000006" "g.47667064T>C" "" "" "" "CORIN(NM_006587.4):c.1574A>G (p.H525R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47665047T>C" "" "benign" "" "0000522603" "0" "50" "4" "47602331" "47602331" "subst" "0" "01943" "CORIN_000010" "g.47602331A>G" "" "" "" "CORIN(NM_006587.3):c.2846T>C (p.I949T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47600314A>G" "" "VUS" "" "0000522604" "0" "30" "4" "47645151" "47645151" "subst" "0" "01943" "CORIN_000011" "g.47645151C>A" "" "" "" "CORIN(NM_001278586.1):c.1969G>T (p.V657F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47643134C>A" "" "likely benign" "" "0000522607" "0" "10" "4" "47682174" "47682174" "subst" "0.504549" "02325" "CORIN_000014" "g.47682174A>G" "" "" "" "CORIN(NM_006587.4):c.1116T>C (p.S372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47680157A>G" "" "benign" "" "0000522608" "0" "10" "4" "47746614" "47746615" "del" "0" "01943" "CORIN_000015" "g.47746614_47746615del" "" "" "" "CORIN(NM_006587.3):c.618-4_618-3delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47744597_47744598del" "" "benign" "" "0000689302" "0" "50" "4" "47643965" "47643965" "subst" "4.07169E-5" "01943" "CORIN_000018" "g.47643965G>A" "" "" "" "CORIN(NM_006587.3):c.2170C>T (p.Q724*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689303" "0" "50" "4" "47645099" "47645099" "subst" "0.000272134" "01943" "CORIN_000019" "g.47645099C>T" "" "" "" "CORIN(NM_001278586.1):c.2021G>A (p.W674*), CORIN(NM_001278586.2):c.2021G>A (p.(Trp674Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719917" "0" "50" "4" "47605455" "47605455" "subst" "5.30543E-5" "01943" "CORIN_000009" "g.47605455G>A" "" "" "" "CORIN(NM_006587.3):c.2771C>T (p.T924M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719918" "0" "30" "4" "47839895" "47839895" "subst" "0" "01943" "CORIN_000020" "g.47839895C>T" "" "" "" "CORIN(NM_006587.3):c.63+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850616" "0" "50" "4" "47625590" "47625590" "dup" "0" "01943" "CORIN_000021" "g.47625590dup" "" "" "" "CORIN(NM_006587.3):c.2540+1dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976296" "0" "30" "4" "47645099" "47645099" "subst" "0.000272134" "01804" "CORIN_000019" "g.47645099C>T" "" "" "" "CORIN(NM_001278586.1):c.2021G>A (p.W674*), CORIN(NM_001278586.2):c.2021G>A (p.(Trp674Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976297" "0" "50" "4" "47676432" "47676432" "subst" "3.25359E-5" "01804" "CORIN_000022" "g.47676432C>T" "" "" "" "CORIN(NM_006587.4):c.1335G>A (p.(Pro445=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994298" "0" "50" "4" "47625703" "47625703" "subst" "0.000207214" "01804" "CORIN_000023" "g.47625703G>A" "" "" "" "CORIN(NM_006587.3):c.2425C>T (p.(Arg809Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994299" "0" "30" "4" "47645061" "47645061" "subst" "0.00947813" "01804" "CORIN_000024" "g.47645061G>A" "" "" "" "CORIN(NM_001278586.1):c.2059C>T (p.(His687Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994300" "0" "30" "4" "47663741" "47663741" "subst" "0.000395967" "01804" "CORIN_000025" "g.47663741A>C" "" "" "" "CORIN(NM_006587.3):c.1722T>G (p.(Asp574Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994301" "0" "50" "4" "47663844" "47663844" "subst" "1.22376E-5" "01804" "CORIN_000026" "g.47663844C>A" "" "" "" "CORIN(NM_006587.3):c.1619G>T (p.(Cys540Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994302" "0" "50" "4" "47667262" "47667263" "ins" "0" "01804" "CORIN_000027" "g.47667262_47667263insCAGAG" "" "" "" "CORIN(NM_006587.3):c.1376_1377insTCTGC (p.(Glu461fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994303" "0" "50" "4" "47667263" "47667264" "ins" "0.000154893" "01804" "CORIN_000028" "g.47667263_47667264insTCC" "" "" "" "CORIN(NM_006587.3):c.1374_1375insGGA (p.(Ile458_Thr459insGly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994304" "0" "50" "4" "47667266" "47667267" "ins" "0.00015905" "01804" "CORIN_000029" "g.47667266_47667267insGC" "" "" "" "CORIN(NM_006587.3):c.1371_1372insGC (p.(Ile458fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994305" "0" "50" "4" "47679953" "47679953" "subst" "0" "01804" "CORIN_000030" "g.47679953A>G" "" "" "" "CORIN(NM_006587.3):c.1249+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994306" "0" "50" "4" "47682191" "47682191" "subst" "8.1477E-6" "01804" "CORIN_000031" "g.47682191C>T" "" "" "" "CORIN(NM_006587.3):c.1099G>A (p.(Asp367Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994307" "0" "50" "4" "47695075" "47695075" "subst" "8.14644E-6" "01804" "CORIN_000032" "g.47695075A>T" "" "" "" "CORIN(NM_006587.3):c.825T>A (p.(Phe275Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994308" "0" "30" "4" "47765401" "47765401" "subst" "0" "01804" "CORIN_000033" "g.47765401A>C" "" "" "" "CORIN(NM_006587.3):c.612T>G (p.(Asp204Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994309" "0" "50" "4" "47765475" "47765475" "subst" "6.49736E-5" "01804" "CORIN_000034" "g.47765475G>A" "" "" "" "CORIN(NM_006587.3):c.538C>T (p.(Arg180Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 CORIN ## Count = 39 "{{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}}" "0000181942" "00025227" "30" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Arg349His)" "8" "0000188554" "00025227" "90" "8" "0" "8" "0" "c.8dup" "r.(?)" "p.(Ser4Valfs*23)" "1" "0000188555" "00025227" "90" "8" "0" "8" "0" "c.8dup" "r.(?)" "p.(Ser4Valfs*23)" "1" "0000188556" "00025227" "30" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Cys13Tyr)" "1" "0000188557" "00025227" "30" "283" "0" "283" "0" "c.283G>T" "r.(?)" "p.(Asp95Tyr)" "3" "0000188558" "00025227" "30" "1001" "0" "1001" "0" "c.1001T>G" "r.(?)" "p.(Leu334Trp)" "7" "0000188559" "00025227" "30" "1574" "0" "1574" "0" "c.1574A>G" "r.(?)" "p.(His525Arg)" "11" "0000188560" "00025227" "90" "1590" "0" "1590" "0" "c.1590G>T" "r.spl?" "p.(Arg530Ser)" "12" "0000188561" "00025227" "30" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Pro866Ser)" "20" "0000188562" "00025227" "90" "2771" "0" "2771" "0" "c.2771C>T" "r.(?)" "p.(Thr924Met)" "20" "0000188563" "00025227" "30" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Cys13Tyr)" "1" "0000188564" "00025227" "30" "283" "0" "283" "0" "c.283G>T" "r.(?)" "p.(Asp95Tyr)" "3" "0000188565" "00025227" "30" "1001" "0" "1001" "0" "c.1001T>G" "r.(?)" "p.(Leu334Trp)" "7" "0000188566" "00025227" "30" "1574" "0" "1574" "0" "c.1574A>G" "r.(?)" "p.(His525Arg)" "11" "0000188567" "00025227" "90" "1590" "0" "1590" "0" "c.1590G>T" "r.spl?" "p.(Arg530Ser)" "12" "0000267084" "00025227" "10" "1574" "0" "1574" "0" "c.1574A>G" "r.(?)" "p.(His525Arg)" "" "0000522603" "00025227" "50" "2846" "0" "2846" "0" "c.2846T>C" "r.(?)" "p.(Ile949Thr)" "" "0000522604" "00025227" "30" "2068" "12" "2068" "12" "c.2068+12G>T" "r.(=)" "p.(=)" "" "0000522607" "00025227" "10" "1116" "0" "1116" "0" "c.1116T>C" "r.(?)" "p.(Ser372=)" "" "0000522608" "00025227" "10" "618" "-4" "618" "-3" "c.618-4_618-3del" "r.spl?" "p.?" "" "0000689302" "00025227" "50" "2170" "0" "2170" "0" "c.2170C>T" "r.(?)" "p.(Gln724Ter)" "" "0000689303" "00025227" "50" "2068" "64" "2068" "64" "c.2068+64G>A" "r.(=)" "p.(=)" "" "0000719917" "00025227" "50" "2771" "0" "2771" "0" "c.2771C>T" "r.(?)" "p.(Thr924Met)" "" "0000719918" "00025227" "30" "63" "9" "63" "9" "c.63+9G>A" "r.(=)" "p.(=)" "" "0000850616" "00025227" "50" "2540" "1" "2540" "1" "c.2540+1dup" "r.spl?" "p.?" "" "0000976296" "00025227" "30" "2068" "64" "2068" "64" "c.2068+64G>A" "r.(=)" "p.(=)" "" "0000976297" "00025227" "50" "1335" "0" "1335" "0" "c.1335G>A" "r.(?)" "p.(=)" "" "0000994298" "00025227" "50" "2425" "0" "2425" "0" "c.2425C>T" "r.(?)" "p.(Arg809Cys)" "" "0000994299" "00025227" "30" "2068" "102" "2068" "102" "c.2068+102C>T" "r.(=)" "p.(=)" "" "0000994300" "00025227" "30" "1722" "0" "1722" "0" "c.1722T>G" "r.(?)" "p.(Asp574Glu)" "" "0000994301" "00025227" "50" "1619" "0" "1619" "0" "c.1619G>T" "r.(?)" "p.(Cys540Phe)" "" "0000994302" "00025227" "50" "1376" "0" "1377" "0" "c.1376_1377insTCTGC" "r.(?)" "p.(Glu461Hisfs*6)" "" "0000994303" "00025227" "50" "1374" "0" "1375" "0" "c.1374_1375insGGA" "r.(?)" "p.(Ile458_Thr459insGly)" "" "0000994304" "00025227" "50" "1371" "0" "1372" "0" "c.1371_1372insGC" "r.(?)" "p.(Ile458Alafs*8)" "" "0000994305" "00025227" "50" "1249" "2" "1249" "2" "c.1249+2T>C" "r.spl?" "p.?" "" "0000994306" "00025227" "50" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Asp367Asn)" "" "0000994307" "00025227" "50" "825" "0" "825" "0" "c.825T>A" "r.(?)" "p.(Phe275Leu)" "" "0000994308" "00025227" "30" "612" "0" "612" "0" "c.612T>G" "r.(?)" "p.(Asp204Glu)" "" "0000994309" "00025227" "50" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000113105" "0000181942" "0000117586" "0000188554" "0000117587" "0000188555" "0000117588" "0000188556" "0000117589" "0000188557" "0000117590" "0000188558" "0000117591" "0000188559" "0000117592" "0000188560" "0000117593" "0000188561" "0000117594" "0000188562" "0000117595" "0000188563" "0000117596" "0000188564" "0000117597" "0000188565" "0000117598" "0000188566" "0000117599" "0000188567"