### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EGLN1) # 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}}" "EGLN1" "egl nine homolog 1 (C. elegans)" "1" "q42.1" "unknown" "NG_015865.1" "UD_132118916794" "" "https://www.LOVD.nl/EGLN1" "Erythrocytosis " "1" "1232" "54583" "606425" "1" "1" "1" "1" "Aliases PHD2, HPH2, SM20, ECYT3, HPH-2, HIFPH2, ZMYND6, C1orf12, HIF-PH2.\r\nEstablishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/EGLN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2019-02-17 17:31:53" "00000" "2022-11-01 13:01:21" ## 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}}" "00006934" "EGLN1" "egl nine homolog 1 (C. elegans)" "001" "NM_022051.2" "" "NP_071334.1" "" "" "" "-3156" "3941" "1281" "231560790" "231499497" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "02879" "ECYT3" "erythrocytosis, familial, type 3 (ECYT-3)" "AD" "609820" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04461" "HALAH" "hemoglobin, high altitude adaptation (HALAH)" "AD" "609070" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05576" "ECYT" "erythrocytosis (ECYT)" "" "" "" "" "" "00006" "2019-02-17 20:56:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EGLN1" "02879" "EGLN1" "04461" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00225506" "" "" "" "3" "" "01678" "{PMID:Percy 2006:16407130}" "" "M" "" "(United Kingdom (Great Britain))" "61y" "0" "" "" "" "" "00225507" "" "" "" "1" "" "01678" "{PMID:Percy 2006:16407130}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00225508" "" "" "" "3" "" "01678" "{PMID:Al-Sheikh 2008:17933562}" "" "M" "" "(France)" "" "0" "" "" "" "" "00225509" "" "" "" "1" "" "01678" "{PMID:Al-Sheikh M 2008:17933562}" "" "M" "" "(France)" "" "0" "" "" "" "" "00225510" "" "" "" "1" "" "01678" "{PMID:Al-Sheikh 2008:17933562}" "" "F" "" "(France)" "" "0" "" "" "" "" "00225511" "" "" "" "1" "" "01678" "{PMID:Ladroue 2008:19092153}" "" "M" "" "(France)" "" "0" "" "" "" "" "00225512" "" "" "" "1" "" "01678" "{PMID:Ladroue 2012:21933857}" "" "M" "" "(France)" "" "0" "" "" "" "" "00225513" "" "" "" "1" "" "01678" "{PMID:Ladroue 2012:21933857}" "" "M" "" "(France)" "" "0" "" "" "" "" "00225514" "" "" "" "1" "" "01678" "{PMID:Ladroue 2012:21933857}" "" "M" "" "(France)" "" "0" "" "" "" "" "00225515" "" "" "" "2" "" "01678" "{PMID:Ladroue 2012:21933857}" "" "M" "" "(France)" "" "0" "" "" "" "" "00225516" "" "" "" "2" "" "01678" "{PMID:Albiero 2011:21275967}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00225517" "" "" "" "2" "" "01678" "{PMID:Albiero 2011:21275967}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00225518" "" "" "" "1" "" "01678" "{PMID:Ladroue 2012:21933857}" "" "M" "" "(France)" "" "0" "" "" "" "" "00225519" "" "" "" "10" "" "01678" "{PMID:Astuti 2011:20959442}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00225520" "" "" "" "1" "" "01678" "{PMID:Albiero 2012:21828119}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00225521" "" "" "" "3" "" "01678" "{PMID:Albiero 2012:21828119}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00225522" "" "" "" "1" "" "01678" "{PMID:Albiero 2012:21828119}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00225523" "" "" "" "1" "" "01678" "{PMID:Astuti 2011:20959442}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00225524" "" "" "" "1" "" "01678" "{PMID:Astuti 2011:20959442}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00225525" "" "" "" "1" "" "01678" "" "" "M" "" "(Belgium)" "" "0" "" "" "" "" "00289749" "" "" "" "4" "" "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 = 21 "{{individualid}}" "{{diseaseid}}" "00225506" "05576" "00225507" "05576" "00225508" "05576" "00225509" "05576" "00225510" "05576" "00225511" "05576" "00225512" "05576" "00225513" "05576" "00225514" "05576" "00225515" "05576" "00225516" "05576" "00225517" "05576" "00225518" "05576" "00225519" "05576" "00225520" "05576" "00225521" "05576" "00225522" "05576" "00225523" "05576" "00225524" "05576" "00225525" "05576" "00289749" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02879, 04461, 05576 ## Count = 20 "{{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}}" "0000170620" "05576" "00225506" "01678" "Familial, autosomal dominant" "" "Familial Erythrocytosis" "" "45y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170621" "05576" "00225507" "01678" "Unknown" "29y" "Erythrocytosis" "" "38y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170622" "05576" "00225508" "01678" "Familial, autosomal dominant" "" "Erythrocytosis" "" "54y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170623" "05576" "00225509" "01678" "Unknown" "" "Erythrocytosis" "" "22y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170624" "05576" "00225510" "01678" "Unknown" "" "Erythrocytosis" "" "25y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170625" "05576" "00225511" "01678" "Unknown" "30y" "Congenital erythrocytosis with paraganglioma" "" "43y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170626" "05576" "00225512" "01678" "Unknown" "" "Congenital Erythrocytosis" "" "22y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170627" "05576" "00225513" "01678" "Unknown" "" "Congenital Erythrocytosis" "" "25y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170628" "05576" "00225514" "01678" "Unknown" "" "Congenital Erythrocytosis" "" "17y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170629" "05576" "00225515" "01678" "Familial, autosomal dominant" "" "Congenital Erythrocytosis" "" "26y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170630" "05576" "00225516" "01678" "Familial, autosomal dominant" "" "referred for Polycythaemia vera, congenital erythrocytosis" "" "65y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170631" "05576" "00225517" "01678" "Familial, autosomal dominant" "" "Congenital Erythrocytosis" "" "40y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170632" "05576" "00225518" "01678" "Unknown" "" "" "" "42y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170633" "05576" "00225519" "01678" "Familial, autosomal dominant" "" "Phaeochromocytoma" "" "" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170634" "05576" "00225520" "01678" "Familial, autosomal dominant" "61y" "clinical manifestations mainly driven by acquired JAK2 lesion; congenital erythrocytosis" "" "80y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170635" "05576" "00225521" "01678" "Familial, autosomal dominant" "" "congenital erythrocytosis; erythrocytosis observed in father, uncle, first cousin" "" "29y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170636" "05576" "00225522" "01678" "Unknown" "" "Sporadic IE" "" "60y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170637" "05576" "00225523" "01678" "Unknown" "" "Phaeochromocytoma and renal cell carcinoma." "" "55y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170638" "05576" "00225524" "01678" "Unknown" "" "Sporadic phaeochromocytoma" "" "" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" "0000170639" "05576" "00225525" "01678" "Unknown" "" "Idiopathic erythrocytosis" "" "45y" "" "" "" "" "" "" "ECYT-3" "erythrocytosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000226585" "00225506" "1" "01678" "01678" "2012-08-16 13:01:35" "01678" "2012-08-16 13:40:07" "SEQ" "DNA" "" "" "0000226586" "00225507" "1" "01678" "01678" "2012-08-16 13:17:36" "" "" "SEQ" "DNA" "" "" "0000226587" "00225508" "1" "01678" "01678" "2012-08-16 13:36:32" "" "" "SEQ" "DNA" "" "" "0000226588" "00225509" "1" "01678" "01678" "2012-08-16 13:48:10" "" "" "SEQ" "DNA" "" "" "0000226589" "00225510" "1" "01678" "01678" "2012-08-16 13:56:28" "" "" "SEQ" "DNA" "" "" "0000226590" "00225511" "1" "01678" "01678" "2012-08-16 16:38:13" "" "" "SEQ" "DNA" "" "" "0000226591" "00225512" "1" "01678" "01678" "2012-08-17 01:35:10" "" "" "SEQ" "DNA" "" "" "0000226592" "00225513" "1" "01678" "01678" "2012-08-17 01:40:34" "" "" "SEQ" "DNA" "" "" "0000226593" "00225514" "1" "01678" "01678" "2012-08-17 01:46:47" "01678" "2012-08-17 01:54:42" "SEQ" "DNA" "" "" "0000226594" "00225515" "1" "01678" "01678" "2012-08-17 02:18:14" "" "" "SEQ" "DNA" "" "" "0000226595" "00225516" "1" "01678" "01678" "2012-08-23 18:20:44" "" "" "SEQ" "DNA" "" "" "0000226596" "00225517" "1" "01678" "01678" "2012-08-23 18:27:20" "" "" "SEQ" "DNA" "" "" "0000226597" "00225518" "1" "01678" "01678" "2012-08-23 18:32:37" "" "" "SEQ" "DNA" "" "" "0000226598" "00225519" "1" "01678" "01678" "2012-08-23 18:57:14" "" "" "SEQ" "DNA" "" "" "0000226599" "00225520" "1" "01678" "01678" "2012-08-23 19:05:08" "01678" "2012-08-23 19:05:42" "SEQ" "DNA" "" "" "0000226600" "00225521" "1" "01678" "01678" "2012-08-23 19:12:36" "" "" "SEQ" "DNA" "" "" "0000226601" "00225522" "1" "01678" "01678" "2012-08-23 19:17:11" "" "" "SEQ" "DNA" "" "" "0000226602" "00225523" "1" "01678" "01678" "2012-08-23 19:22:23" "" "" "SEQ" "DNA" "" "" "0000226603" "00225524" "1" "01678" "01678" "2012-08-23 19:26:47" "" "" "SEQ" "DNA" "" "" "0000226604" "00225525" "1" "01678" "01678" "2013-10-08 19:09:11" "" "" "SEQ" "DNA" "" "" "0000290917" "00289749" "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 = 20 "{{screeningid}}" "{{geneid}}" "0000226585" "EGLN1" "0000226586" "EGLN1" "0000226587" "EGLN1" "0000226588" "EGLN1" "0000226589" "EGLN1" "0000226590" "EGLN1" "0000226591" "EGLN1" "0000226592" "EGLN1" "0000226593" "EGLN1" "0000226594" "EGLN1" "0000226595" "EGLN1" "0000226596" "EGLN1" "0000226597" "EGLN1" "0000226598" "EGLN1" "0000226599" "EGLN1" "0000226600" "EGLN1" "0000226601" "EGLN1" "0000226602" "EGLN1" "0000226603" "EGLN1" "0000226604" "EGLN1" ## 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 = 31 "{{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}}" "0000276003" "0" "30" "1" "231506343" "231506343" "subst" "0.00175099" "01943" "EGLN1_000022" "g.231506343G>A" "" "" "" "EGLN1(NM_022051.2):c.1113C>T (p.R371=), EGLN1(NM_022051.3):c.1113C>T (p.R371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.231370597G>A" "" "likely benign" "" "0000339066" "0" "50" "1" "231557511" "231557511" "subst" "0" "02327" "EGLN1_000024" "g.231557511A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.231421765A>G" "" "VUS" "" "0000344767" "0" "70" "1" "231488610" "231488610" "subst" "0" "02327" "SPRTN_000004" "g.231488610C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.231352864C>T" "" "likely pathogenic" "" "0000458926" "11" "99" "1" "231509787" "231509787" "subst" "0" "01678" "EGLN1_000001" "g.231509787G>C" "3/405 chromosomes" "{PMID:Percy 2006:16407130}" "" "" "Pro-317 of PHD2 is two residues C-terminal to the iron- chelating residue Asp-315" "Germline" "" "" "0" "" "" "g.231374041G>C" "" "pathogenic" "" "0000458927" "0" "99" "1" "231506344" "231506344" "subst" "0" "01678" "EGLN1_000002" "g.231506344C>T" "1/400 chromosomes" "{PMID:Percy 2006:16407130}" "Tsp45I +" "PHD2 G1112A" "Residue 371 is 3 amino acids away from the His374 iron-chelating residue" "Unknown" "" "" "0" "" "" "g.231370598C>T" "" "pathogenic" "" "0000458928" "10" "99" "1" "231557029" "231557029" "del" "0" "01678" "EGLN1_000003" "g.231557029del" "2/74 patients" "{PMID:Al-Sheikh 2008:17933562}" "" "" "PHD2 protein truncated by 154 C-terminal amino acids" "Germline" "" "" "0" "" "" "g.231421283del" "" "pathogenic" "" "0000458929" "0" "99" "1" "231556795" "231556795" "dup" "0" "01678" "EGLN1_000004" "g.231556795dup" "1/74 patients" "{PMID:Al-Sheikh M 2008:17933562}" "" "840_841insA" "PHD2 protein truncated by 143 C-terminal amino acids" "Unknown" "" "" "0" "" "" "g.231421049dup" "" "pathogenic" "" "0000458930" "0" "99" "1" "231506327" "231506327" "subst" "0" "01678" "EGLN1_000005" "g.231506327G>A" "1/74 patients" "{PMID:Al-Sheikh 2008:17933562}" "" "PHD2 C 1129T" "PHD2 protein truncated by 50 C-terminal amino acids" "Unknown" "" "" "0" "" "" "g.231370581G>A" "" "pathogenic" "" "0000458931" "0" "77" "1" "231506335" "231506335" "subst" "0" "01678" "EGLN1_000006" "g.231506335T>C" "1/280 chromosomes" "{PMID:Ladroue 2008:19092153}" "" "" "affects PHD2 function and stabilizes HIF-alpha proteins" "Unknown" "" "" "0" "" "" "g.231370589T>C" "" "likely pathogenic" "" "0000458932" "0" "77" "1" "231557036" "231557036" "subst" "0" "01678" "EGLN1_000007" "g.231557036G>T" "1/34 patients" "{PMID:Ladroue 2012:21933857}" "" "" "" "Unknown" "" "" "0" "" "" "g.231421290G>T" "" "likely pathogenic" "" "0000458933" "0" "77" "1" "231556875" "231556875" "subst" "0" "01678" "EGLN1_000008" "g.231556875C>G" "1/34 patients" "{PMID:Ladroue 2012:21933857}" "" "" "" "Unknown" "" "" "0" "" "" "g.231421129C>G" "" "likely pathogenic" "" "0000458934" "0" "55" "1" "231506344" "231506344" "subst" "0" "01678" "EGLN1_000002" "g.231506344C>T" "1/400 chromosomes" "{PMID:Ladroue 2012:21933857}" "Tsp45I +" "PHD2 G1112A" "Residue 371 is 3 amino acids away from the His374 iron-chelating residue" "Unknown" "" "" "0" "" "" "g.231370598C>T" "" "VUS" "" "0000458935" "21" "99" "1" "231503339" "231503339" "subst" "0.00000812949" "01678" "EGLN1_000009" "g.231503339G>A" "2/34 patients" "{PMID:Ladroue 2012:21933857}" "" "" "mother patient carries variant in mosaic pattern" "Germline" "" "" "0" "" "" "g.231367593G>A" "" "pathogenic" "" "0000458936" "0" "13" "1" "231557164" "231557164" "subst" "0.0176471" "01678" "EGLN1_000010" "g.231557164C>G" "2/26 patients" "{PMID:Albiero 2011:21275967}" "" "" "amino acid does not directly involve catalytic domain; homozygous for JAK2V617F" "Germline" "" "" "0" "" "" "g.231421418C>G" "" "benign" "" "0000458937" "0" "13" "1" "231557164" "231557164" "subst" "0.0176471" "01678" "EGLN1_000010" "g.231557164C>G" "2/26 patients" "{PMID:Albiero 2011:21275967}" "" "" "amino acid does not directly involve catalytic domain" "Germline" "" "" "0" "" "" "g.231421418C>G" "" "benign" "" "0000458938" "0" "13" "1" "231557164" "231557164" "subst" "0.0176471" "01678" "EGLN1_000010" "g.231557164C>G" "1/157 individuals" "{PMID:Ladroue 2012:21933857}" "" "" "amino acid does not directly involve catalytic domain" "Germline" "" "" "0" "" "" "g.231421418C>G" "" "benign" "" "0000458939" "0" "13" "1" "231557164" "231557164" "subst" "0.0176471" "01678" "EGLN1_000010" "g.231557164C>G" "3/111 normal controls" "{PMID:Astuti 2011:20959442}" "" "" "amino acid does not directly involve catalytic domain" "Germline" "" "" "0" "" "" "g.231421418C>G" "" "benign" "" "0000458940" "0" "77" "1" "231557026" "231557026" "subst" "0.00000409984" "01678" "EGLN1_000011" "g.231557026G>C" "1/67patients" "{PMID:Albiero 2012:21828119}" "" "" "not in 200 control chromosomes; JAK2 exon12 547insL+I540-F547dup8" "Unknown" "" "" "0" "" "" "g.231421280G>C" "" "likely pathogenic" "" "0000458941" "10" "77" "1" "231556763" "231556763" "subst" "0" "01678" "EGLN1_000012" "g.231556763T>A" "1/67patients" "{PMID:Albiero 2012:21828119}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.231421017T>A" "" "likely pathogenic" "" "0000458942" "0" "77" "1" "231502171" "231502171" "subst" "0" "01678" "EGLN1_000013" "g.231502171T>C" "1/67patients" "{PMID:Albiero 2012:21828119}" "" "" "" "Unknown" "" "" "0" "" "" "g.231366425T>C" "" "likely pathogenic" "" "0000458943" "0" "77" "1" "231556895" "231556895" "subst" "0" "01678" "EGLN1_000014" "g.231556895G>C" "1/82 patients" "{PMID:Astuti 2011:20959442}" "" "" "Polyphen/SIFT suggest possibly damaging and intolerant" "Unknown" "" "" "0" "" "" "g.231421149G>C" "" "likely pathogenic" "" "0000458944" "0" "77" "1" "231556770" "231556770" "subst" "0" "01678" "EGLN1_000015" "g.231556770T>C" "1/22 patients" "{PMID:Astuti 2011:20959442}" "" "" "Ser289 is not involved with the active site" "Unknown" "" "" "0" "" "" "g.231421024T>C" "" "likely pathogenic" "" "0000458945" "0" "70" "1" "231556974" "231556974" "subst" "0" "01678" "EGLN1_000016" "g.231556974G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.231421228G>A" "" "likely pathogenic" "" "0000505904" "0" "30" "1" "231474181" "231474181" "subst" "0" "01943" "EGLN1_000025" "g.231474181C>A" "" "" "" "SPRTN(NM_001010984.3):c.52C>A (p.Q18K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231338435C>A" "" "likely benign" "" "0000505905" "0" "10" "1" "231502244" "231502244" "dup" "0" "01943" "EGLN1_000026" "g.231502244dup" "" "" "" "EGLN1(NM_022051.2):c.1217-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231366498dup" "" "benign" "" "0000647606" "1" "30" "1" "231499559" "231499559" "subst" "0" "03575" "EGLN1_000027" "g.231499559C>T" "4/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs77496832}" "Germline" "" "rs77496832" "0" "" "" "g.231363813C>T" "" "likely benign" "" "0000799163" "0" "50" "1" "231473430" "231473430" "subst" "0.00000846998" "01943" "EGLN1_000028" "g.231473430C>A" "" "" "" "EXOC8(NM_175876.4):c.62G>T (p.G21V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799164" "0" "90" "1" "231557146" "231557146" "subst" "0" "02327" "EGLN1_000029" "g.231557146G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848582" "0" "30" "1" "231471908" "231471908" "subst" "0.00179513" "02326" "EGLN1_000030" "g.231471908A>G" "" "" "" "EXOC8(NM_175876.5):c.1584T>C (p.H528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874619" "0" "50" "1" "231557513" "231557513" "subst" "0" "03779" "EGLN1_000031" "g.231557513T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1365297757" "0" "" "" "" "" "VUS" "" "0000883216" "0" "30" "1" "231506343" "231506343" "subst" "0.00175099" "02326" "EGLN1_000022" "g.231506343G>A" "" "" "" "EGLN1(NM_022051.2):c.1113C>T (p.R371=), EGLN1(NM_022051.3):c.1113C>T (p.R371=)" "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 EGLN1 ## Count = 31 "{{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}}" "0000276003" "00006934" "30" "1113" "0" "1113" "0" "c.1113C>T" "r.(?)" "p.(Arg371=)" "" "0000339066" "00006934" "50" "124" "0" "124" "0" "c.124T>C" "r.(?)" "p.(Cys42Arg)" "" "0000344767" "00006934" "70" "14828" "0" "14828" "0" "c.*13547G>A" "r.(=)" "p.(=)" "" "0000458926" "00006934" "99" "950" "0" "950" "0" "c.950C>G" "r.(?)" "p.(Pro317Arg)" "2" "0000458927" "00006934" "99" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371His)" "3" "0000458928" "00006934" "99" "606" "0" "606" "0" "c.606del" "r.(?)" "p.(Met202Ilefs*72)" "1" "0000458929" "00006934" "99" "840" "0" "840" "0" "c.840dup" "r.(?)" "p.(Arg281Thrfs*4)" "1" "0000458930" "00006934" "99" "1129" "0" "1129" "0" "c.1129C>T" "r.(?)" "p.(Gln377*)" "3" "0000458931" "00006934" "77" "1121" "0" "1121" "0" "c.1121A>G" "r.(?)" "p.(His374Arg)" "3" "0000458932" "00006934" "77" "599" "0" "599" "0" "c.599C>A" "r.(?)" "p.(Pro200Gln)" "1" "0000458933" "00006934" "77" "760" "0" "760" "0" "c.760G>C" "r.(?)" "p.(Asp254His)" "1" "0000458934" "00006934" "55" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371His)" "3" "0000458935" "00006934" "99" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398*)" "4" "0000458936" "00006934" "13" "471" "0" "471" "0" "c.471G>C" "r.(?)" "p.(Gln157His)" "1" "0000458937" "00006934" "13" "471" "0" "471" "0" "c.471G>C" "r.(?)" "p.(Gln157His)" "1" "0000458938" "00006934" "13" "471" "0" "471" "0" "c.471G>C" "r.(?)" "p.(Gln157His)" "1" "0000458939" "00006934" "13" "471" "0" "471" "0" "c.471G>C" "r.(?)" "p.(Gln157His)" "1" "0000458940" "00006934" "77" "609" "0" "609" "0" "c.609C>G" "r.(?)" "p.(Asn203Lys)" "1" "0000458941" "00006934" "77" "872" "0" "872" "0" "c.872A>T" "r.(?)" "p.(Lys291Ile)" "1" "0000458942" "00006934" "77" "1267" "0" "1267" "0" "c.1267A>G" "r.(?)" "p.(Lys423Glu)" "5" "0000458943" "00006934" "77" "740" "0" "740" "0" "c.740C>G" "r.(?)" "p.(Ser247Trp)" "1" "0000458944" "00006934" "77" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Ser289Gly)" "1" "0000458945" "00006934" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.Gln221*" "1" "0000505904" "00006934" "30" "29257" "0" "29257" "0" "c.*27976G>T" "r.(=)" "p.(=)" "" "0000505905" "00006934" "10" "1217" "-10" "1217" "-10" "c.1217-10dup" "r.(=)" "p.(=)" "" "0000647606" "00006934" "30" "3879" "0" "3879" "0" "c.*2598G>A" "r.(=)" "p.(=)" "" "0000799163" "00006934" "50" "30008" "0" "30008" "0" "c.*28727G>T" "r.(=)" "p.(=)" "" "0000799164" "00006934" "90" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Tyr163*)" "" "0000848582" "00006934" "30" "31530" "0" "31530" "0" "c.*30249T>C" "r.(=)" "p.(=)" "" "0000874619" "00006934" "50" "122" "0" "122" "0" "c.122A>G" "r.(?)" "p.(Tyr41Cys)" "" "0000883216" "00006934" "30" "1113" "0" "1113" "0" "c.1113C>T" "r.(?)" "p.(Arg371=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000226585" "0000458926" "0000226586" "0000458927" "0000226587" "0000458928" "0000226588" "0000458929" "0000226589" "0000458930" "0000226590" "0000458931" "0000226591" "0000458932" "0000226592" "0000458933" "0000226593" "0000458934" "0000226594" "0000458935" "0000226595" "0000458936" "0000226596" "0000458937" "0000226597" "0000458938" "0000226598" "0000458939" "0000226599" "0000458940" "0000226600" "0000458941" "0000226601" "0000458942" "0000226602" "0000458943" "0000226603" "0000458944" "0000226604" "0000458945" "0000290917" "0000647606"