### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PROKR2) # 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}}" "PROKR2" "prokineticin receptor 2" "20" "p12.3" "unknown" "NG_008132.1" "UD_132118330883" "" "http://www.LOVD.nl/PROKR2" "" "1" "15836" "128674" "607123" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PROKR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-21 15:28:45" "00000" "2025-05-05 21:14:00" ## 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}}" "00016883" "PROKR2" "prokineticin receptor 2" "001" "NM_144773.2" "" "NP_658986.1" "" "" "" "1" "1155" "1155" "5295015" "5282686" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01877" "HH3" "hypogonadotropic hypogonadism, type 3 with/without anosmia (HH-3)" "AD" "244200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05198" "KAL" "Kallmann syndrome (KAL)" "" "" "" "" "" "00006" "2016-10-21 14:34:27" "" "" "05284" "ANI" "anosmia, isolated (ANI)" "" "" "" "" "" "00006" "2017-06-16 19:42:14" "" "" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PROKR2" "01877" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00081730" "" "" "" "1" "" "00006" "{PMID:Hanchate 2012:22927827}, {DOI:Hanchate 2012:10.1371/journal.pgen.1002896}" "targeted sequencing in 386 Kallmann syndrome patients, 1 affected" "M" "" "France" "" "0" "" "" "" "" "00081731" "" "" "" "1" "" "00006" "{PMID:Hanchate 2012:22927827}, {DOI:Hanchate 2012:10.1371/journal.pgen.1002896}" "targeted sequencing in 386 Kallmann syndrome patients, 1 affected" "M" "" "France" "" "0" "" "" "" "" "00104946" "" "" "" "2" "" "02034" "" "" "F;M" "no" "Israel" "" "0" "" "" "Jewish" "" "00231463" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat89" "00231485" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat143" "00231498" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat168" "00231500" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat171" "00231502" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat173" "00231540" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat277" "00292955" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292956" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295187" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00081730" "05198" "00081731" "05198" "00104946" "05284" "00231463" "05597" "00231485" "05597" "00231498" "05597" "00231500" "05597" "00231502" "05597" "00231540" "05597" "00292955" "00198" "00292956" "00198" "00295187" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01877, 05198, 05284, 05597 ## Count = 9 "{{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}}" "0000061373" "05198" "00081730" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061374" "05198" "00081731" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082949" "05284" "00104946" "02034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173854" "05597" "00231463" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173876" "05597" "00231485" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173889" "05597" "00231498" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173891" "05597" "00231500" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173893" "05597" "00231502" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173931" "05597" "00231540" "00006" "Unknown" "" "Syndromic" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081859" "00081730" "1" "00006" "00006" "2016-10-21 15:10:40" "" "" "SEQ" "DNA" "" "" "0000081860" "00081731" "1" "00006" "00006" "2016-10-21 15:10:40" "" "" "SEQ" "DNA" "" "" "0000105421" "00104946" "1" "02034" "02034" "2017-06-13 05:30:58" "" "" "SEQ-NG-IT" "DNA" "" "" "0000232562" "00231463" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232584" "00231485" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232597" "00231498" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232599" "00231500" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232601" "00231502" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232639" "00231540" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000294123" "00292955" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294124" "00292956" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296355" "00295187" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000081859" "PROKR2" "0000081859" "SEMA3A" "0000081860" "PROKR2" "0000081860" "SEMA3A" "0000232562" "PROKR2" "0000232584" "PROKR2" "0000232597" "PROKR2" "0000232599" "PROKR2" "0000232601" "PROKR2" "0000232639" "PROKR2" ## 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 = 62 "{{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}}" "0000132550" "0" "90" "20" "5283039" "5283039" "subst" "0.00379025" "00006" "PROKR2_000001" "g.5283039G>A" "" "{PMID:Hanchate 2012:22927827}, {DOI:Hanchate 2012:10.1371/journal.pgen.1002896}" "" "R268C" "" "Germline" "" "" "0" "" "" "g.5302393G>A" "" "pathogenic" "" "0000132553" "0" "90" "20" "5283039" "5283039" "subst" "0.00379025" "00006" "PROKR2_000001" "g.5283039G>A" "" "{PMID:Hanchate 2012:22927827}, {DOI:Hanchate 2012:10.1371/journal.pgen.1002896}" "" "R268C" "" "Germline" "" "" "0" "" "" "g.5302393G>A" "" "pathogenic" "" "0000170841" "0" "90" "20" "5283323" "5283323" "subst" "0.00228246" "02034" "PROKR2_000002" "g.5283323A>C" "" "" "" "" "" "Germline" "yes" "rs74315416" "0" "" "" "g.5302677A>C" "" "pathogenic" "" "0000297377" "0" "10" "20" "5283256" "5283256" "subst" "0.746881" "02325" "PROKR2_000004" "g.5283256C>G" "" "" "" "PROKR2(NM_144773.4):c.585G>C (p.T195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5302610C>G" "" "benign" "" "0000306446" "0" "30" "20" "5283319" "5283319" "subst" "1.21838E-5" "01943" "PROKR2_000005" "g.5283319G>A" "" "" "" "PROKR2(NM_144773.3):c.522C>T (p.I174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5302673G>A" "" "likely benign" "" "0000306447" "0" "30" "20" "5283237" "5283237" "subst" "0.000198978" "01943" "PROKR2_000003" "g.5283237T>C" "" "" "" "PROKR2(NM_144773.3):c.604A>G (p.S202G), PROKR2(NM_144773.4):c.604A>G (p.(Ser202Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5302591T>C" "" "likely benign" "" "0000340230" "0" "10" "20" "5283256" "5283256" "subst" "0.746881" "02327" "PROKR2_000004" "g.5283256C>G" "" "" "" "PROKR2(NM_144773.4):c.585G>C (p.T195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5302610C>G" "" "benign" "" "0000340231" "0" "10" "20" "5283316" "5283316" "subst" "0.113159" "02327" "PROKR2_000008" "g.5283316G>C" "" "" "" "PROKR2(NM_144773.4):c.525C>G (p.A175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5302670G>C" "" "benign" "" "0000340232" "0" "10" "20" "5283376" "5283376" "subst" "0.396802" "02327" "PROKR2_000009" "g.5283376G>A" "" "" "" "PROKR2(NM_144773.4):c.465C>T (p.L155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5302730G>A" "" "benign" "" "0000340233" "0" "10" "20" "5295063" "5295063" "subst" "0.0276445" "02327" "PROKR2_000014" "g.5295063G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5314417G>A" "" "benign" "" "0000341232" "0" "50" "20" "5283287" "5283287" "subst" "8.1217E-6" "02327" "PROKR2_000007" "g.5283287G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5302641G>A" "" "VUS" "" "0000342495" "0" "50" "20" "5283032" "5283032" "subst" "0.000105607" "02327" "PROKR2_000006" "g.5283032C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5302386C>T" "" "VUS" "" "0000346234" "0" "50" "20" "5294808" "5294808" "subst" "2.43637E-5" "02327" "PROKR2_000012" "g.5294808C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5314162C>T" "" "VUS" "" "0000346406" "0" "90" "20" "5294959" "5294959" "del" "0" "02327" "PROKR2_000013" "g.5294959del" "" "" "" "PROKR2(NM_144773.3):c.58delC (p.H20Mfs*24), PROKR2(NM_144773.4):c.58del (p.(His20MetfsTer24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5314313del" "" "pathogenic" "" "0000475048" "21" "50" "20" "5283323" "5283323" "subst" "0.00228246" "00006" "PROKR2_000002" "g.5283323A>C" "" "{PMID:Eggers 2016:27899157}" "" "" "father negative" "Germline" "" "" "0" "" "46,XY" "g.5302677A>C" "" "VUS" "" "0000475049" "1" "50" "20" "5283278" "5283278" "subst" "1.21831E-5" "00006" "PROKR2_000016" "g.5283278G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.5302632G>A" "" "VUS" "" "0000475050" "1" "50" "20" "5294865" "5294865" "subst" "0.00450736" "00006" "PROKR2_000017" "g.5294865C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.5314219C>T" "" "VUS" "" "0000475051" "1" "50" "20" "5282787" "5282787" "subst" "0" "00006" "PROKR2_000015" "g.5282787A>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.5302141A>C" "" "VUS" "" "0000475052" "1" "50" "20" "5283278" "5283278" "subst" "1.21831E-5" "00006" "PROKR2_000016" "g.5283278G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.5302632G>A" "" "VUS" "" "0000475053" "1" "50" "20" "5283278" "5283278" "subst" "1.21831E-5" "00006" "PROKR2_000016" "g.5283278G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.5302632G>A" "" "VUS" "" "0000569997" "0" "90" "20" "5282973" "5282973" "subst" "0.000142129" "01804" "PROKR2_000019" "g.5282973G>A" "" "" "" "PROKR2(NM_144773.2):c.868C>T (p.(Pro290Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5302327G>A" "" "pathogenic" "" "0000570000" "0" "10" "20" "5283256" "5283256" "subst" "0.746881" "02330" "PROKR2_000004" "g.5283256C>G" "" "" "" "PROKR2(NM_144773.4):c.585G>C (p.T195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5302610C>G" "" "benign" "" "0000570001" "0" "10" "20" "5283316" "5283316" "subst" "0.113159" "02330" "PROKR2_000008" "g.5283316G>C" "" "" "" "PROKR2(NM_144773.4):c.525C>G (p.A175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5302670G>C" "" "benign" "" "0000570003" "0" "10" "20" "5283376" "5283376" "subst" "0.396802" "02330" "PROKR2_000009" "g.5283376G>A" "" "" "" "PROKR2(NM_144773.4):c.465C>T (p.L155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5302730G>A" "" "benign" "" "0000570005" "0" "10" "20" "5294865" "5294865" "subst" "0.00450736" "02330" "PROKR2_000017" "g.5294865C>T" "" "" "" "PROKR2(NM_144773.2):c.151G>A (p.(Ala51Thr)), PROKR2(NM_144773.3):c.151G>A (p.A51T), PROKR2(NM_144773.4):c.151G>A (p.A51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5314219C>T" "" "benign" "" "0000570006" "0" "30" "20" "5294865" "5294865" "subst" "0.00450736" "01804" "PROKR2_000017" "g.5294865C>T" "" "" "" "PROKR2(NM_144773.2):c.151G>A (p.(Ala51Thr)), PROKR2(NM_144773.3):c.151G>A (p.A51T), PROKR2(NM_144773.4):c.151G>A (p.A51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5314219C>T" "" "likely benign" "" "0000570007" "0" "30" "20" "5294865" "5294865" "subst" "0.00450736" "02327" "PROKR2_000017" "g.5294865C>T" "" "" "" "PROKR2(NM_144773.2):c.151G>A (p.(Ala51Thr)), PROKR2(NM_144773.3):c.151G>A (p.A51T), PROKR2(NM_144773.4):c.151G>A (p.A51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5314219C>T" "" "likely benign" "" "0000618218" "0" "10" "20" "5283039" "5283039" "subst" "0.00379025" "02325" "PROKR2_000001" "g.5283039G>A" "" "" "" "PROKR2(NM_144773.4):c.802C>T (p.R268C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5302393G>A" "" "benign" "" "0000650812" "1" "70" "20" "5283278" "5283278" "subst" "1.21831E-5" "03575" "PROKR2_000016" "g.5283278G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs376239580}" "Germline" "" "rs376239580" "0" "" "" "g.5302632G>A" "" "likely pathogenic" "" "0000650813" "1" "90" "20" "5294673" "5294673" "subst" "3.65467E-5" "03575" "PROKR2_000021" "g.5294673C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs138672528}" "Germline" "" "rs138672528" "0" "" "" "g.5314027C>T" "" "pathogenic" "" "0000653044" "1" "30" "20" "5294762" "5294762" "subst" "0.000328907" "03575" "PROKR2_000011" "g.5294762C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs74315418.1}" "Germline" "" "rs74315418" "0" "" "" "g.5314116C>A" "" "likely benign" "" "0000658780" "0" "50" "20" "5294679" "5294679" "subst" "0.000113698" "01943" "PROKR2_000022" "g.5294679A>G" "" "" "" "PROKR2(NM_144773.3):c.337T>C (p.Y113H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5314033A>G" "" "VUS" "" "0000681648" "0" "50" "20" "5283094" "5283094" "subst" "8.12216E-6" "02325" "PROKR2_000020" "g.5283094C>G" "" "" "" "PROKR2(NM_144773.4):c.747G>C (p.E249D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681650" "0" "50" "20" "5294763" "5294763" "subst" "0.00059285" "01943" "PROKR2_000023" "g.5294763G>A" "" "" "" "PROKR2(NM_144773.3):c.253C>T (p.R85C), PROKR2(NM_144773.4):c.253C>T (p.(Arg85Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693002" "0" "10" "20" "5282719" "5282719" "subst" "0.00614669" "02330" "PROKR2_000024" "g.5282719G>T" "" "" "" "PROKR2(NM_144773.4):c.1122C>A (p.T374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693003" "0" "10" "20" "5282731" "5282731" "subst" "0.00619642" "02330" "PROKR2_000025" "g.5282731G>A" "" "" "" "PROKR2(NM_144773.4):c.1110C>T (p.N370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693004" "0" "30" "20" "5282850" "5282850" "subst" "0.00620883" "02330" "PROKR2_000018" "g.5282850C>T" "" "" "" "PROKR2(NM_144773.3):c.991G>A (p.V331M), PROKR2(NM_144773.4):c.991G>A (p.V331M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727741" "0" "30" "20" "5282836" "5282836" "subst" "0.000515703" "01943" "PROKR2_000026" "g.5282836C>T" "" "" "" "PROKR2(NM_144773.3):c.1005G>A (p.T335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727742" "0" "30" "20" "5294635" "5294635" "subst" "0.000138088" "01943" "PROKR2_000027" "g.5294635G>C" "" "" "" "PROKR2(NM_144773.3):c.381C>G (p.L127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727743" "0" "30" "20" "5294743" "5294743" "subst" "1.62422E-5" "01943" "PROKR2_000028" "g.5294743G>A" "" "" "" "PROKR2(NM_144773.3):c.273C>T (p.L91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727744" "0" "30" "20" "5294860" "5294860" "subst" "4.06058E-5" "02330" "PROKR2_000029" "g.5294860G>A" "" "" "" "PROKR2(NM_144773.4):c.156C>T (p.A52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727745" "0" "30" "20" "5294866" "5294866" "subst" "0.000223332" "02330" "PROKR2_000030" "g.5294866G>A" "" "" "" "PROKR2(NM_144773.4):c.150C>T (p.F50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809282" "0" "50" "20" "5294613" "5294613" "subst" "5.28E-5" "02330" "PROKR2_000031" "g.5294613G>A" "" "" "" "PROKR2(NM_144773.4):c.403C>T (p.R135C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809283" "0" "50" "20" "5294762" "5294762" "subst" "0.000710602" "01804" "PROKR2_000010" "g.5294762C>T" "" "" "" "PROKR2(NM_144773.2):c.254G>A (p.(Arg85His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809284" "0" "50" "20" "5294959" "5294959" "del" "0" "01943" "PROKR2_000013" "g.5294959del" "" "" "" "PROKR2(NM_144773.3):c.58delC (p.H20Mfs*24), PROKR2(NM_144773.4):c.58del (p.(His20MetfsTer24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866533" "0" "50" "20" "5283033" "5283033" "subst" "0" "01943" "PROKR2_000032" "g.5283033G>T" "" "" "" "PROKR2(NM_144773.3):c.808C>A (p.R270S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895370" "0" "10" "20" "5282878" "5282878" "subst" "6.90316E-5" "02330" "PROKR2_000033" "g.5282878G>A" "" "" "" "PROKR2(NM_144773.4):c.963C>T (p.I321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895371" "0" "50" "20" "5282952" "5282952" "subst" "0.000747166" "02325" "PROKR2_000034" "g.5282952C>T" "" "" "" "PROKR2(NM_144773.4):c.889G>A (p.V297I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895372" "0" "30" "20" "5283039" "5283039" "subst" "0.00379025" "02330" "PROKR2_000001" "g.5283039G>A" "" "" "" "PROKR2(NM_144773.4):c.802C>T (p.R268C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895373" "0" "50" "20" "5283192" "5283192" "subst" "0" "01804" "PROKR2_000035" "g.5283192G>A" "" "" "" "PROKR2(NM_144773.2):c.649C>T (p.(Gln217*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895375" "0" "90" "20" "5283357" "5283357" "subst" "4.06319E-6" "02327" "PROKR2_000036" "g.5283357T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915405" "0" "30" "20" "5294626" "5294626" "subst" "0.00053207" "02326" "PROKR2_000037" "g.5294626G>A" "" "" "" "PROKR2(NM_144773.3):c.390C>T (p.S130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915406" "0" "10" "20" "5294865" "5294865" "subst" "0.00450736" "02326" "PROKR2_000017" "g.5294865C>T" "" "" "" "PROKR2(NM_144773.2):c.151G>A (p.(Ala51Thr)), PROKR2(NM_144773.3):c.151G>A (p.A51T), PROKR2(NM_144773.4):c.151G>A (p.A51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927024" "0" "30" "20" "5283151" "5283151" "subst" "0.000170586" "02330" "PROKR2_000038" "g.5283151G>A" "" "" "" "PROKR2(NM_144773.4):c.690C>T (p.V230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931184" "0" "10" "20" "5282850" "5282850" "subst" "0.00620883" "02326" "PROKR2_000018" "g.5282850C>T" "" "" "" "PROKR2(NM_144773.3):c.991G>A (p.V331M), PROKR2(NM_144773.4):c.991G>A (p.V331M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970188" "0" "50" "20" "5283294" "5283294" "subst" "0" "01804" "PROKR2_000039" "g.5283294G>A" "" "" "" "PROKR2(NM_144773.2):c.547C>T (p.(Leu183Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970189" "0" "30" "20" "5294722" "5294722" "subst" "2.43633E-5" "02330" "PROKR2_000040" "g.5294722G>A" "" "" "" "PROKR2(NM_144773.4):c.294C>T (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983852" "0" "30" "20" "5283237" "5283237" "subst" "0.000198978" "01804" "PROKR2_000003" "g.5283237T>C" "" "" "" "PROKR2(NM_144773.3):c.604A>G (p.S202G), PROKR2(NM_144773.4):c.604A>G (p.(Ser202Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983854" "0" "50" "20" "5294763" "5294763" "subst" "0.00059285" "01804" "PROKR2_000023" "g.5294763G>A" "" "" "" "PROKR2(NM_144773.3):c.253C>T (p.R85C), PROKR2(NM_144773.4):c.253C>T (p.(Arg85Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983855" "0" "90" "20" "5294959" "5294959" "del" "0" "01804" "PROKR2_000013" "g.5294959del" "" "" "" "PROKR2(NM_144773.3):c.58delC (p.H20Mfs*24), PROKR2(NM_144773.4):c.58del (p.(His20MetfsTer24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043434" "0" "50" "20" "5294673" "5294673" "subst" "3.65467E-5" "01804" "PROKR2_000021" "g.5294673C>T" "" "" "" "PROKR2(NM_144773.4):c.343G>A (p.(Val115Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043435" "0" "30" "20" "5294763" "5294763" "subst" "0.000341092" "01804" "PROKR2_000041" "g.5294763G>C" "" "" "" "PROKR2(NM_144773.4):c.253C>G (p.(Arg85Gly))" "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 PROKR2 ## Count = 62 "{{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}}" "0000132550" "00016883" "90" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "2" "0000132553" "00016883" "90" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "2" "0000170841" "00016883" "90" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Leu173Arg)" "2" "0000297377" "00016883" "10" "585" "0" "585" "0" "c.585G>C" "r.(?)" "p.(Thr195=)" "" "0000306446" "00016883" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Ile174=)" "" "0000306447" "00016883" "30" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Ser202Gly)" "" "0000340230" "00016883" "10" "585" "0" "585" "0" "c.585G>C" "r.(?)" "p.(Thr195=)" "" "0000340231" "00016883" "10" "525" "0" "525" "0" "c.525C>G" "r.(?)" "p.(Ala175=)" "" "0000340232" "00016883" "10" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(Leu155=)" "" "0000340233" "00016883" "10" "-48" "0" "-48" "0" "c.-48C>T" "r.(?)" "p.(=)" "" "0000341232" "00016883" "50" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Ala185Val)" "" "0000342495" "00016883" "50" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "" "0000346234" "00016883" "50" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Gly70Ser)" "" "0000346406" "00016883" "90" "58" "0" "58" "0" "c.58del" "r.(?)" "p.(His20MetfsTer24)" "" "0000475048" "00016883" "50" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Leu173Arg)" "" "0000475049" "00016883" "50" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Ser188Leu)" "" "0000475050" "00016883" "50" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Ala51Thr)" "" "0000475051" "00016883" "50" "1054" "0" "1054" "0" "c.1054T>G" "r.(?)" "p.(Trp352Gly)" "" "0000475052" "00016883" "50" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Ser188Leu)" "" "0000475053" "00016883" "50" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Ser188Leu)" "" "0000569997" "00016883" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Pro290Ser)" "" "0000570000" "00016883" "10" "585" "0" "585" "0" "c.585G>C" "r.(?)" "p.(Thr195=)" "" "0000570001" "00016883" "10" "525" "0" "525" "0" "c.525C>G" "r.(?)" "p.(Ala175=)" "" "0000570003" "00016883" "10" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(Leu155=)" "" "0000570005" "00016883" "10" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Ala51Thr)" "" "0000570006" "00016883" "30" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Ala51Thr)" "" "0000570007" "00016883" "30" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Ala51Thr)" "" "0000618218" "00016883" "10" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "" "0000650812" "00016883" "70" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Ser188Leu)" "" "0000650813" "00016883" "90" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Val115Met)" "" "0000653044" "00016883" "30" "254" "0" "254" "0" "c.254G>T" "r.(?)" "p.(Arg85Leu)" "" "0000658780" "00016883" "50" "337" "0" "337" "0" "c.337T>C" "r.(?)" "p.(Tyr113His)" "" "0000681648" "00016883" "50" "747" "0" "747" "0" "c.747G>C" "r.(?)" "p.(Glu249Asp)" "" "0000681650" "00016883" "50" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "" "0000693002" "00016883" "10" "1122" "0" "1122" "0" "c.1122C>A" "r.(?)" "p.(Thr374=)" "" "0000693003" "00016883" "10" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Asn370=)" "" "0000693004" "00016883" "30" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Val331Met)" "" "0000727741" "00016883" "30" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Thr335=)" "" "0000727742" "00016883" "30" "381" "0" "381" "0" "c.381C>G" "r.(?)" "p.(Leu127=)" "" "0000727743" "00016883" "30" "273" "0" "273" "0" "c.273C>T" "r.(?)" "p.(Leu91=)" "" "0000727744" "00016883" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Ala52=)" "" "0000727745" "00016883" "30" "150" "0" "150" "0" "c.150C>T" "r.(?)" "p.(Phe50=)" "" "0000809282" "00016883" "50" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Cys)" "" "0000809283" "00016883" "50" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85His)" "" "0000809284" "00016883" "50" "58" "0" "58" "0" "c.58del" "r.(?)" "p.(His20MetfsTer24)" "" "0000866533" "00016883" "50" "808" "0" "808" "0" "c.808C>A" "r.(?)" "p.(Arg270Ser)" "" "0000895370" "00016883" "10" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Ile321=)" "" "0000895371" "00016883" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Val297Ile)" "" "0000895372" "00016883" "30" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "" "0000895373" "00016883" "50" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Gln217*)" "" "0000895375" "00016883" "90" "484" "0" "484" "0" "c.484A>T" "r.(?)" "p.(Lys162*)" "" "0000915405" "00016883" "30" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Ser130=)" "" "0000915406" "00016883" "10" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Ala51Thr)" "" "0000927024" "00016883" "30" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Val230=)" "" "0000931184" "00016883" "10" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Val331Met)" "" "0000970188" "00016883" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Leu183Phe)" "" "0000970189" "00016883" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(=)" "" "0000983852" "00016883" "30" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Ser202Gly)" "" "0000983854" "00016883" "50" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "" "0000983855" "00016883" "90" "58" "0" "58" "0" "c.58del" "r.(?)" "p.(His20MetfsTer24)" "" "0001043434" "00016883" "50" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Val115Met)" "" "0001043435" "00016883" "30" "253" "0" "253" "0" "c.253C>G" "r.(?)" "p.(Arg85Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000081859" "0000132550" "0000081860" "0000132553" "0000105421" "0000170841" "0000232562" "0000475048" "0000232584" "0000475049" "0000232597" "0000475050" "0000232599" "0000475051" "0000232601" "0000475052" "0000232639" "0000475053" "0000294123" "0000650812" "0000294124" "0000650813" "0000296355" "0000653044"