### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PROC) # 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}}" "PROC" "protein C (inactivator of coagulation factors Va and VIIIa)" "2" "q13-q14" "unknown" "LRG_599" "UD_132118243291" "" "https://www.LOVD.nl/PROC" "" "1" "9451" "5624" "612283" "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/PROC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-02 15:57:46" "00000" "2025-07-08 13:22:38" ## 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}}" "00016875" "PROC" "protein C (inactivator of coagulation factors Va and VIIIa)" "001" "NM_000312.3" "" "NP_000303.1" "" "" "" "-94" "1686" "1386" "128175996" "128186822" "" "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}}" "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" "01525" "THPH3" "thrombophilia, hereditary, due to protein C deficiency, autosomal dominant (THPH3)" "AD" "176860" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-02 15:49:14" "03118" "THPH4" "thrombophilia, hereditary, due to protein C deficiency, autosomal recessive (THPH4)" "AR" "612304" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-02 15:55:56" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PROC" "01525" "PROC" "03118" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00292243" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308692" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00375512" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "179584" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00292243" "00198" "00308692" "00000" "00375512" "01525" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01525, 03118 ## Count = 1 "{{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}}" "0000270726" "01525" "00375512" "01164" "Unknown" "" "Fertility disorder for over 1.5 years, two miscarriages, one \"biochemical\" pregnancy. Pregnancy, sinus vein thrombosis, protein C deficiency" "" "" "" "" "" "" "" "" "32y" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293411" "00292243" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309837" "00308692" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000376709" "00375512" "1" "01164" "01164" "2021-06-04 15:52:26" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000309837" "PROC" "0000376709" "PROC" ## 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 = 30 "{{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}}" "0000248980" "0" "10" "2" "128176040" "128176040" "subst" "0.380293" "02325" "PROC_000001" "g.128176040A>T" "" "" "" "PROC(NM_000312.4):c.-50A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127418464A>T" "" "benign" "" "0000256659" "0" "50" "2" "128186008" "128186008" "subst" "0" "01943" "PROC_000003" "g.128186008A>T" "" "" "" "PROC(NM_000312.3):c.872A>T (p.Y291F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127428432A>T" "" "VUS" "" "0000297370" "0" "10" "2" "128180872" "128180872" "subst" "0.678667" "02325" "PROC_000002" "g.128180872G>T" "" "" "" "PROC(NM_000312.4):c.423G>T (p.S141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127423296G>T" "" "benign" "" "0000337098" "0" "10" "2" "128176040" "128176040" "subst" "0.380293" "02327" "PROC_000001" "g.128176040A>T" "" "" "" "PROC(NM_000312.4):c.-50A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127418464A>T" "" "benign" "" "0000339363" "0" "10" "2" "128180872" "128180872" "subst" "0.678667" "02327" "PROC_000002" "g.128180872G>T" "" "" "" "PROC(NM_000312.4):c.423G>T (p.S141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127423296G>T" "" "benign" "" "0000339364" "0" "10" "2" "128184770" "128184770" "subst" "0.273373" "02327" "PROC_000006" "g.128184770T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127427194T>C" "" "benign" "" "0000341358" "0" "90" "2" "128186037" "128186037" "subst" "0" "02327" "PROC_000007" "g.128186037G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127428461G>A" "" "pathogenic" "" "0000342697" "0" "90" "2" "128186178" "128186178" "subst" "4.0623E-6" "02327" "PROC_000008" "g.128186178C>T" "" "" "" "PROC(NM_000312.4):c.1042C>T (p.R348*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127428602C>T" "" "pathogenic" "" "0000342886" "0" "70" "2" "128178913" "128178913" "subst" "8.13127E-6" "02327" "PROC_000004" "g.128178913G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127421337G>A" "" "likely pathogenic" "" "0000344277" "0" "90" "2" "128180889" "128180889" "subst" "0" "02327" "PROC_000005" "g.128180889G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127423313G>A" "" "pathogenic" "" "0000509151" "0" "90" "2" "128180969" "128180969" "subst" "0" "02327" "PROC_000009" "g.128180969C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127423393C>T" "" "pathogenic" "" "0000509152" "0" "90" "2" "128186178" "128186178" "subst" "4.0623E-6" "02325" "PROC_000008" "g.128186178C>T" "" "" "" "PROC(NM_000312.4):c.1042C>T (p.R348*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127428602C>T" "" "pathogenic" "" "0000606088" "0" "70" "2" "128183783" "128183783" "subst" "0" "02327" "PROC_000010" "g.128183783C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127426207C>T" "" "likely pathogenic" "" "0000606089" "0" "70" "2" "128183784" "128183784" "subst" "0.000101556" "02327" "PROC_000011" "g.128183784G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127426208G>A" "" "likely pathogenic" "" "0000650100" "1" "70" "2" "128185950" "128185950" "subst" "2.03333E-5" "03575" "PROC_000012" "g.128185950C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs121918154}" "Germline" "" "rs121918154" "0" "" "" "g.127428374C>T" "" "likely pathogenic" "" "0000676008" "0" "90" "2" "128185950" "128185950" "subst" "2.03333E-5" "02327" "PROC_000012" "g.128185950C>T" "" "" "" "PROC(NM_000312.4):c.814C>T (p.(Arg272Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000676009" "0" "10" "2" "128186243" "128186243" "subst" "0.00346164" "02327" "PROC_000013" "g.128186243G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000684739" "0" "30" "2" "128183690" "128183690" "subst" "0.000698523" "00004" "PROC_000014" "g.128183690C>T" "frequency 0.027" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.127426114C>T" "" "likely benign" "" "0000717830" "0" "90" "2" "128183690" "128183690" "subst" "0.000698523" "02327" "PROC_000014" "g.128183690C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000788603" "0" "70" "2" "128183783" "128183783" "subst" "0" "01164" "PROC_000010" "g.128183783C>T" "" "PMID: 31254973, 22545135, 28607330, 21621249" "" "" "ACMG: PM1, PM5, PS4_SUP, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000799659" "0" "90" "2" "128180890" "128180890" "subst" "0" "02327" "PROC_000015" "g.128180890C>A" "" "" "" "PROC(NM_000312.4):c.441C>A (p.C147*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848943" "0" "70" "2" "128180621" "128180621" "subst" "0" "01804" "PROC_000016" "g.128180621T>C" "" "" "" "PROC(NM_000312.3):c.274T>C (p.(Cys92Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947348" "0" "50" "2" "128180687" "128180687" "subst" "1.72977E-5" "02327" "PROC_000017" "g.128180687G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947349" "0" "90" "2" "128185947" "128185947" "subst" "1.62706E-5" "02327" "PROC_000018" "g.128185947C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974268" "0" "50" "2" "128177426" "128177426" "subst" "0" "01804" "PROC_000019" "g.128177426G>A" "" "" "" "PROC(NM_001375602.1):c.91G>A (p.(Ala31Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974269" "0" "50" "2" "128178915" "128178915" "subst" "6.91124E-5" "01804" "PROC_000020" "g.128178915G>A" "" "" "" "PROC(NM_000312.4):c.127G>A (p.(Ala43Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974270" "0" "90" "2" "128185950" "128185950" "subst" "2.03333E-5" "01804" "PROC_000012" "g.128185950C>T" "" "" "" "PROC(NM_000312.4):c.814C>T (p.(Arg272Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991606" "0" "50" "2" "128184694" "128184694" "subst" "0" "01804" "PROC_000021" "g.128184694A>C" "" "" "" "PROC(NM_000312.3):c.692A>C (p.(Asp231Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045709" "0" "90" "2" "128180890" "128180890" "subst" "0" "02325" "PROC_000015" "g.128180890C>A" "" "" "" "PROC(NM_000312.4):c.441C>A (p.C147*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045710" "0" "90" "2" "128183720" "128183720" "subst" "4.06068E-6" "02325" "PROC_000022" "g.128183720C>T" "" "" "" "PROC(NM_000312.4):c.595C>T (p.R199*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PROC ## Count = 30 "{{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}}" "0000248980" "00016875" "10" "-50" "0" "-50" "0" "c.-50A>T" "r.(?)" "p.(=)" "" "0000256659" "00016875" "50" "872" "0" "872" "0" "c.872A>T" "r.(?)" "p.(Tyr291Phe)" "" "0000297370" "00016875" "10" "423" "0" "423" "0" "c.423G>T" "r.(?)" "p.(Ser141=)" "" "0000337098" "00016875" "10" "-50" "0" "-50" "0" "c.-50A>T" "r.(?)" "p.(=)" "" "0000339363" "00016875" "10" "423" "0" "423" "0" "c.423G>T" "r.(?)" "p.(Ser141=)" "" "0000339364" "00016875" "10" "768" "0" "768" "0" "c.768T>C" "r.(?)" "p.(Asp256=)" "" "0000341358" "00016875" "90" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Ala301Thr)" "" "0000342697" "00016875" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Ter)" "" "0000342886" "00016875" "70" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Arg42His)" "" "0000344277" "00016875" "90" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Cys147Tyr)" "" "0000509151" "00016875" "90" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Gln174Ter)" "" "0000509152" "00016875" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Ter)" "" "0000606088" "00016875" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0000606089" "00016875" "70" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000650100" "00016875" "70" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" "0000676008" "00016875" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" "0000676009" "00016875" "10" "1107" "0" "1107" "0" "c.1107G>A" "r.(?)" "p.(Pro369=)" "" "0000684739" "00016875" "30" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Trp)" "" "0000717830" "00016875" "90" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Trp)" "" "0000788603" "00016875" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0000799659" "00016875" "90" "441" "0" "441" "0" "c.441C>A" "r.(?)" "p.(Cys147*)" "" "0000848943" "00016875" "70" "274" "0" "274" "0" "c.274T>C" "r.(?)" "p.(Cys92Arg)" "" "0000947348" "00016875" "50" "340" "0" "340" "0" "c.340G>C" "r.(?)" "p.(Gly114Arg)" "" "0000947349" "00016875" "90" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Trp)" "" "0000974268" "00016875" "50" "-21" "-72" "-21" "-72" "c.-21-72G>A" "r.(=)" "p.(=)" "" "0000974269" "00016875" "50" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Ala43Thr)" "" "0000974270" "00016875" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" "0000991606" "00016875" "50" "692" "0" "692" "0" "c.692A>C" "r.(?)" "p.(Asp231Ala)" "" "0001045709" "00016875" "90" "441" "0" "441" "0" "c.441C>A" "r.(?)" "p.(Cys147*)" "" "0001045710" "00016875" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000293411" "0000650100" "0000309837" "0000684739" "0000376709" "0000788603"