### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EPOR) # 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}}" "EPOR" "erythropoietin receptor" "19" "p13.3-p13.2" "unknown" "NG_021395.1" "UD_132118448300" "" "https://www.LOVD.nl/EPOR" "Erythrocytosis " "1" "3416" "2057" "133171" "1" "1" "1" "1" "Establishment 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/EPOR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2019-04-20 15:58:15" "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}}" "00007181" "EPOR" "transcript variant 1" "001" "NM_000121.3" "" "NP_000112.1" "" "" "" "-135" "2306" "1527" "11495018" "11487881" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01322" "ECYT1" "erythrocytosis, familial, type 1 (ECYT-1)" "" "133100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02294" "VMCM" "venous malformations, multiple cutaneous and mucosal (VMCM)" "AD" "600195" "" "" "" "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}}" "EPOR" "01322" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00025513" "" "" "" "5" "" "00006" "{PMID:de la Chapelle 1993:8506290}, {PMID:Juvonen 1991:1954391}" "extensive 5-generation family, >30 affecteds" "" "" "" "" "0" "" "" "Europe, north, Laplander" "" "00230960" "" "" "" "16" "" "01678" "{PMID:Arcasoy MO 2002:11929803}" "family, 16 affected" "F" "no" "United States" "" "0" "" "" "" "" "00230961" "" "" "" "5" "" "01678" "{PMID:S Perrotta 2010:20700488}" "family, 5 affected" "M" "" "(Italy)" "" "0" "" "" "" "" "00230962" "" "" "" "1" "" "01678" "{PMID:Rives S 2007:17488692}" "" "" "" "" "" "0" "" "" "" "" "00230963" "" "" "" "1" "" "01678" "{PMID:Furukawa 1997:9359528}" "" "" "" "Japan" "" "0" "" "" "" "" "00230964" "" "" "" "4" "" "01678" "{PMID:Kralovics 1998:9649565}" "family, 4 affected" "M" "" "(United States)" "58y" "0" "" "" "" "" "00230965" "" "" "" "1" "" "01678" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00230966" "" "" "" "4" "" "01678" "{PMID:Kralovics 1977:9292543}; {PMID:Arcasoy 1977:9192789}" "family, 4 affected" "F" "" "Czech Republic" "" "0" "" "" "" "" "00230967" "" "" "" "6" "" "01678" "{PMID:Kralovics 1977:9292543}; {PMID:Arcasoy 1997:9192789}" "family, 6 affected" "F" "" "United States" "" "0" "" "" "" "" "00230968" "" "" "" "2" "" "01678" "{PMID:O\'Rourke 2011:21437635}" "family, 2 affected" "M" "" "(Australia)" "" "0" "" "" "" "" "00230969" "" "" "" "4" "" "01678" "{PMID:Al-Sheikh 2008:18492694}" "family, 4 affected" "M" "" "(France)" "" "0" "" "" "" "" "00230970" "" "" "" "2" "" "01678" "{PMID:Al-Sheikh 2008:18492694}" "family, 2 affected" "F" "" "(France)" "" "0" "" "" "" "" "00230971" "" "" "" "3" "" "01678" "{PMID:Al-Sheikh 2008:18492694}" "family, 3 affected" "F" "" "(France)" "" "0" "" "" "" "" "00230972" "" "" "" "3" "" "01678" "{PMID:Le Couedic 1996:8608241}; {PMID:Al-Sheikh 2008:18492694}" "family, 3 affected" "" "" "(France)" "" "0" "" "" "" "" "00230973" "" "" "" "1" "" "01678" "{PMID:Le Couedic 1996:8608241}; {PMID:Al-Sheikh 2008:18492694}" "" "" "" "(France)" "" "0" "" "" "" "" "00230974" "" "" "" "1" "" "01678" "{PMID:Al-Sheikh 2008:18492694}" "" "M" "" "(France)" "" "0" "" "" "" "" "00230975" "" "" "" "1" "" "01678" "{PMID:Sokol L 1994 :8174675}" "" "M" "" "(United States)" "" "0" "" "" "" "" "00230976" "" "" "" "1" "" "01678" "{PMID:Kralovics R 1997:9394420}" "The mutated allele of the affected grandmother was not passed to either of her two affected children or to her one healthy child; thus, the disease phenotype was not linked to the C6148T mutation in this family." "F" "" "(United States)" "" "0" "" "" "" "" "00230977" "" "" "" "3" "" "01678" "{PMID:Rives S 2007 :17488692}" "family, 3 affected" "F" "" "(Spain)" "" "0" "" "" "" "" "00230978" "" "" "" "2" "" "01678" "{PMID:Kralovics R 1997:9292543}" "family, 2 affected" "M" "" "Czech Republic" "" "0" "" "" "" "" "00230979" "" "" "" "4" "" "01678" "{PMID:Sokol L 1995:7795221}" "family, 4 affected" "M" "" "(United States)" "" "0" "" "" "" "" "00230980" "" "" "" "7" "" "01678" "{PMID:Watowich SS 1999:10498627}" "family, 7 affected" "F" "" "Sweden" "" "0" "" "" "" "" "00230982" "" "" "" "3" "" "01678" "{GenBankJQ821734.1}" "family, 3 affected" "M" "no" "Spain" "" "0" "" "" "" "" "00230983" "" "" "" "3" "" "01678" "" "family, 3 affected" "M" "no" "Spain" "" "0" "" "" "" "" "00464534" "" "" "" "1" "" "04817" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "" "no" "Italy" "" "0" "" "" "" "Pat8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00025513" "01322" "00230960" "01322" "00230961" "01322" "00230962" "01322" "00230963" "01322" "00230964" "01322" "00230965" "01322" "00230966" "01322" "00230967" "01322" "00230968" "01322" "00230969" "01322" "00230970" "01322" "00230971" "01322" "00230972" "01322" "00230973" "01322" "00230974" "01322" "00230975" "01322" "00230976" "01322" "00230977" "01322" "00230978" "01322" "00230979" "01322" "00230980" "01322" "00230982" "01322" "00230983" "01322" "00464534" "02294" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01322, 02294 ## Count = 25 "{{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}}" "0000021630" "01322" "00025513" "00006" "Familial, autosomal dominant" "" "sport performance; incl. Eero Mäntyranta, olympic skying champion" "" "" "" "" "" "" "" "" "" "0000173444" "01322" "00230960" "01678" "Familial, autosomal dominant" "" "PFCP, congenital erythrocytosis" "" "15y" "" "" "" "" "" "ECYT-1" "primary familial congenital polycythemia" "0000173445" "01322" "00230961" "01678" "Familial, autosomal dominant" "" "" "14y" "7y" "" "" "" "" "" "ECYT-1" "erythrocytosis" "0000173446" "01322" "00230962" "01678" "Isolated (sporadic)" "" "sporadic congenital primary erythrocytosis, neonatal polyglobuly" "" "5y" "" "" "" "" "" "ECYT-1" "erythrocytosis" "0000173447" "01322" "00230963" "01678" "Familial, autosomal dominant" "" "PFCP, congenital erythrocytosis" "" "" "" "" "" "" "" "ECYT-1" "primary familial congenital polycythemia" "0000173448" "01322" "00230964" "01678" "Familial, autosomal dominant" "" "The propositus had extensive coronary artery disease and died of acute cerebral hemorrhage 2r after the diagnosis of PFCP." "" "56y" "" "" "" "" "" "ECYT-1" "erythrocytosis" "0000173449" "01322" "00230965" "01678" "-" "" "PFCP, congenital erythrocytosis" "" "73y" "" "" "" "" "" "ECYT-1" "primary familial congenital polycythemia" "0000173450" "01322" "00230966" "01678" "Familial, autosomal dominant" "" "Her father and three other paternal relatives were also affected; three of them had coronary disease, congenital erythrocytosis" "" "8y" "" "" "" "" "" "ECYT-1" "erythrocytosis" "0000173451" "01322" "00230967" "01678" "Familial, autosomal dominant" "" "The proband (III-3), who was first evaluated at 15 years of age because of persistent headaches, had a hemoglobin level of 20.7 g/dL and a hematocrit of 62%, congenital erythrocytosis" "" "15y" "" "" "" "" "" "ECYT-1" "erythrocytosis" "0000173452" "01322" "00230968" "01678" "Familial, autosomal dominant" "" "PFCP, congenital erythrocytosis" "" "15y" "" "" "" "" "" "ECYT-1" "primary familial congenital polycythemia" "0000173453" "01322" "00230969" "01678" "Familial, autosomal dominant" "" "PFCP, congenital erythrocytosis" "" "48y" "" "" "" "" "" "ECYT-1" "primary familial congenital polycythemia" "0000173454" "01322" "00230970" "01678" "Familial, autosomal dominant" "" "PFCP, congenital erythrocytosis" "" "47y" "" "" "" "" "" "ECYT-1" "primary familial congenital polycythemia" "0000173455" "01322" "00230971" "01678" "Familial, autosomal dominant" "" "PFCP, congenital erythrocytosis" "" "9y" "" "" "" "" "" "" "primary familial congenital polycythemia" "0000173456" "01322" "00230972" "01678" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "polycythemia" "0000173457" "01322" "00230973" "01678" "-" "" "" "" "" "" "" "" "" "" "" "erythroleukemia" "0000173458" "01322" "00230974" "01678" "-" "" "" "" "62y" "" "" "" "" "" "" "erythrocytosis" "0000173459" "01322" "00230975" "01678" "Isolated (sporadic)" "" "" "31y" "42y" "" "" "" "" "" "" "erythrocytosis" "0000173460" "01322" "00230976" "01678" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "erythrocytosis" "0000173461" "01322" "00230977" "01678" "Familial, autosomal dominant" "" "PFCP, family’s medical history revealed previous erythrocytosis of the 40-year old mother and current erythrocytosis of the 23-year old brother;" "" "14y" "" "" "" "" "" "ECYT-1" "primary familial congenital polycythemia" "0000173462" "01322" "00230978" "01678" "Familial, autosomal dominant" "" "Diagnosed at age 14 with erythrocytosis, mild splenomegaly, mild hypertension, and normal serum EPO, which were consistent with PFCP, congenital erythrocytosis" "41y" "14y" "" "" "" "" "" "ECYT-1" "erythrocytosis" "0000173463" "01322" "00230979" "01678" "Familial, autosomal dominant" "" "PFCP, congenital erythrocytosis" "29y" "24y" "" "" "" "" "" "ECYT-1" "primary familial congenital polycythemia" "0000173464" "01322" "00230980" "01678" "Familial, autosomal dominant" "" "Affected family members were plethoric and often had additional symptoms, including hypertension, headaches, dizziness, nosebleeds, and exertional dyspnea, which were most pronounced in the males, congenital erythrocytosis" "" "" "" "" "" "" "" "ECYT-1" "congenital erythrocytosis" "0000173466" "01322" "00230982" "01678" "Familial, autosomal dominant" "" "PFCP, congenital erythrocytosis" "63y" "" "" "" "" "" "" "ECYT-1" "primary familial congenital polycythemia" "0000173467" "01322" "00230983" "01678" "Familial, autosomal dominant" "" "PFCP, congenital erythrocytosis" "45y" "" "" "" "" "" "" "ECYT-1" "primary familial congenital polycythemia" "0000350533" "02294" "00464534" "04817" "Unknown" "" "" "" "" "" "" "" "" "" "Vein of Galen aneurysmal malformation HP:0030713" "Vein of Galen aneurysmal malformation" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025517" "00025513" "1" "00006" "00006" "2014-12-13 14:06:42" "" "" "SEQ" "DNA" "" "" "0000232056" "00230960" "1" "01678" "01678" "2012-08-07 00:19:27" "01678" "2012-08-08 11:16:37" "SEQ" "DNA" "" "" "0000232057" "00230961" "1" "01678" "01678" "2012-08-07 00:41:55" "" "" "SEQ" "DNA" "" "" "0000232058" "00230962" "1" "01678" "01678" "2012-08-07 01:55:30" "" "" "SEQ" "DNA" "" "" "0000232059" "00230963" "1" "01678" "01678" "2012-08-08 11:30:56" "" "" "SEQ" "DNA" "" "" "0000232060" "00230964" "1" "01678" "01678" "2012-08-08 12:11:38" "01678" "2012-08-10 12:31:15" "SEQ" "DNA" "" "" "0000232061" "00230965" "1" "01678" "01678" "2012-08-08 13:25:25" "" "" "SEQ" "DNA" "" "" "0000232062" "00230966" "1" "01678" "01678" "2012-08-08 16:25:41" "01678" "2012-08-10 12:38:43" "SEQ" "DNA" "" "" "0000232063" "00230967" "1" "01678" "01678" "2012-08-08 16:47:10" "01678" "2012-08-10 12:44:18" "SEQ" "DNA" "" "" "0000232064" "00230968" "1" "01678" "01678" "2012-08-08 17:03:51" "" "" "SEQ" "DNA" "" "" "0000232065" "00230969" "1" "01678" "01678" "2012-08-09 14:05:01" "01678" "2012-08-09 14:05:41" "SEQ" "DNA" "" "" "0000232066" "00230970" "1" "01678" "01678" "2012-08-09 14:11:06" "" "" "SEQ" "DNA" "" "" "0000232067" "00230971" "1" "01678" "01678" "2012-08-09 14:17:36" "" "" "SEQ" "DNA" "" "" "0000232068" "00230972" "1" "01678" "01678" "2012-08-09 17:03:00" "" "" "SEQ" "DNA" "" "" "0000232069" "00230973" "1" "01678" "01678" "2012-08-09 17:09:43" "" "" "SEQ" "DNA" "" "" "0000232070" "00230974" "1" "01678" "01678" "2012-08-09 17:19:23" "01678" "2012-08-09 17:38:18" "SEQ" "DNA" "" "" "0000232071" "00230975" "1" "01678" "01678" "2012-08-09 18:21:52" "" "" "SEQ" "DNA" "" "" "0000232072" "00230976" "1" "01678" "01678" "2012-08-09 18:30:47" "" "" "SEQ" "DNA" "" "" "0000232073" "00230977" "1" "01678" "01678" "2012-08-09 19:03:09" "01678" "2012-08-10 12:21:29" "SEQ" "DNA" "" "" "0000232074" "00230978" "1" "01678" "01678" "2012-08-10 13:20:49" "" "" "SEQ" "DNA" "" "" "0000232075" "00230979" "1" "01678" "01678" "2012-08-10 13:44:57" "" "" "SEQ" "DNA" "" "" "0000232076" "00230980" "1" "01678" "01678" "2012-08-11 02:03:01" "" "" "SEQ" "DNA" "" "" "0000232078" "00230982" "1" "01678" "01678" "2012-08-04 22:01:48" "01678" "2012-08-07 00:45:17" "SEQ" "DNA" "" "" "0000232079" "00230983" "1" "01678" "01678" "2012-08-05 13:37:17" "" "" "SEQ" "DNA" "" "" "0000466172" "00464534" "1" "04817" "04817" "2025-03-25 12:17:50" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000025517" "EPOR" "0000232056" "EPOR" "0000232057" "EPOR" "0000232058" "EPOR" "0000232059" "EPOR" "0000232060" "EPOR" "0000232061" "EPOR" "0000232062" "EPOR" "0000232063" "EPOR" "0000232064" "EPOR" "0000232065" "EPOR" "0000232066" "EPOR" "0000232067" "EPOR" "0000232068" "EPOR" "0000232069" "EPOR" "0000232070" "EPOR" "0000232071" "EPOR" "0000232072" "EPOR" "0000232073" "EPOR" "0000232074" "EPOR" "0000232075" "EPOR" "0000232076" "EPOR" "0000232078" "EPOR" "0000232079" "EPOR" "0000466172" "EPOR" ## 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 = 27 "{{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}}" "0000048420" "1" "90" "19" "11488871" "11488871" "subst" "0" "00006" "EPOR_000005" "g.11488871C>T" "" "{PMID:de la Chapelle 1993:08506290}, {OMIM133171:0001}" "NcoI-" "6002G>A" "" "Germline" "yes" "rs121918116" "0" "" "" "g.11378195C>T" "" "pathogenic" "" "0000474368" "21" "99" "19" "11488992" "11488992" "subst" "0" "01678" "EPOR_000002" "g.11488992C>A" "" "{PMID:Arcasoy MO 2002:11929803}" "Tru9I+" "" "Introduces a premature termination codon at position 399 that would result in deletion of 110 amino acid residues at the C-terminus of the receptor." "Germline" "" "" "0" "" "" "g.11378316C>A" "" "pathogenic" "" "0000474369" "11" "99" "19" "11488938" "11488938" "subst" "0" "01678" "EPOR_000003" "g.11488938C>A" "" "{PMID:S Perrotta 2010:20700488}" "" "" "This genetic change resulted in the synthesis of a truncated receptor lacking the cytosolic tyrosines subjected to phosphorylation, except Y344." "Germline" "" "" "0" "" "" "g.11378262C>A" "" "pathogenic" "" "0000474370" "0" "99" "19" "11488870" "11488870" "subst" "0" "01678" "EPOR_000004" "g.11488870C>T" "" "{PMID:Rives S 2007:17488692}" "" "" "Leads to a 70 amino acid truncation of the intracellular domain of the Epo receptor" "De novo" "" "" "0" "" "" "g.11378194C>T" "" "pathogenic" "" "0000474371" "0" "99" "19" "11488887" "11488887" "subst" "0" "01678" "EPOR_000006" "g.11488887G>A" "" "{PMID:Furukawa 1997:9359528}" "" "" "EPOR protein truncated by 74 aa" "Germline" "" "" "0" "" "" "g.11378211G>A" "" "pathogenic" "" "0000474372" "0" "99" "19" "11488909" "11488909" "subst" "0" "01678" "EPOR_000007" "g.11488909G>C" "" "{PMID:Kralovics 1998:9649565}" "" "" "EPOR protein truncated by 83 amino acids" "Germline" "" "" "0" "" "" "g.11378233G>C" "" "pathogenic" "" "0000474373" "0" "79" "19" "11488952" "11488952" "subst" "0" "01678" "EPOR_000008" "g.11488952G>T" "" "GenBank JQ821735.1" "" "" "EPOR protein truncated for the last 97 amino acids" "Germline" "" "" "0" "" "" "g.11378276G>T" "" "likely pathogenic" "" "0000474374" "11" "99" "19" "11488890" "11488896" "del" "0" "01678" "EPOR_000009" "g.11488890_11488896del" "" "{PMID:Kralovics 1977:9292543}; {PMID:Arcasoy 1977:9192789}" "" "1299_1305delCCCAGCT" "EpoR peptide that is truncated by 59 amino acids" "Germline" "" "" "0" "" "" "g.11378214_11378220del" "" "pathogenic" "" "0000474375" "11" "99" "19" "11488890" "11488896" "del" "0" "01678" "EPOR_000009" "g.11488890_11488896del" "" "{PMID:Kralovics 1977:9292543}; {PMID:Arcasoy 1997:9192789}" "+(RsaI)" "1299_1305delCCCAGCT" "EpoR peptide that is truncated by 59 amino acids" "Germline" "" "" "0" "" "" "g.11378214_11378220del" "" "pathogenic" "" "0000474376" "21" "99" "19" "11488953" "11488953" "del" "0" "01678" "EPOR_000010" "g.11488953del" "" "{PMID:O\'Rourke 2011:21437635}" "" "1234delT" "" "Germline" "" "" "0" "" "" "g.11378277del" "" "pathogenic" "" "0000474377" "21" "99" "19" "11488916" "11488917" "del" "0" "01678" "EPOR_000011" "g.11488916_11488917del" "" "{PMID:Al-Sheikh 2008:18492694}" "" "1271_1272delTT" "EPOR protein shortened by 85 residues" "Germline" "" "" "0" "" "" "g.11378240_11378241del" "" "pathogenic" "" "0000474378" "0" "99" "19" "11489045" "11489046" "del" "0" "01678" "EPOR_000012" "g.11489045_11489046del" "" "{PMID:Al-Sheikh 2008:18492694}" "" "1142_1143delCC" "EpoR peptide truncated by 127 aa" "Germline" "" "" "0" "" "" "g.11378369_11378370del" "" "pathogenic" "" "0000474379" "21" "99" "19" "11488903" "11488903" "del" "0" "01678" "EPOR_000013" "g.11488903del" "" "{PMID:Al-Sheikh 2008:18492694}" "" "1285delC" "EPOR protein - introduction of 23 aa followed by a premature stop codon" "Germline" "" "" "0" "" "" "g.11378227del" "" "pathogenic" "" "0000474380" "0" "33" "19" "11488727" "11488727" "subst" "0.00641442" "01678" "EPOR_000014" "g.11488727T>C" "4/126 chromossomes" "{PMID:Le Couedic 1996:8608241}; {PMID:Al-Sheikh 2008:18492694}" "BpmI+" "" "Probable linkage between the N487S mutation and the erythroid pathology of the patients" "Unknown" "" "" "0" "" "" "g.11378051T>C" "" "likely benign" "" "0000474381" "0" "55" "19" "11488727" "11488727" "subst" "0.00641442" "01678" "EPOR_000014" "g.11488727T>C" "4/126 chromossomes" "{PMID:Le Couedic 1996:8608241}; {PMID:Al-Sheikh 2008:18492694}" "BpmI+" "" "Probable linkage between the N487S mutation and the erythroid pathology of the patients" "Unknown" "" "" "0" "" "" "g.11378051T>C" "" "VUS" "" "0000474382" "0" "55" "19" "11488727" "11488727" "subst" "0.00641442" "01678" "EPOR_000014" "g.11488727T>C" "4/126 chromossomes" "{PMID:Al-Sheikh 2008:18492694}" "+(BpmI)" "" "Probable linkage between the N487S mutation and the erythroid pathology of the patients" "Unknown" "" "" "0" "" "" "g.11378051T>C" "" "VUS" "" "0000474383" "0" "77" "19" "11488725" "11488725" "subst" "0.00783618" "01678" "EPOR_000015" "g.11488725G>A" "1/40 chromosomes" "{PMID:Sokol L 1994 :8174675}" "" "" "" "Unknown" "" "" "0" "" "" "g.11378049G>A" "" "likely pathogenic" "" "0000474384" "0" "55" "19" "11488725" "11488725" "subst" "0.00783618" "01678" "EPOR_000015" "g.11488725G>A" "1/40 chromosomes" "{PMID:Kralovics R 1997:9394420}" "" "" "" "Unknown" "" "" "0" "" "" "g.11378049G>A" "" "VUS" "" "0000474385" "0" "99" "19" "11488909" "11488909" "subst" "0" "01678" "EPOR_000007" "g.11488909G>C" "1/14 patients" "{PMID:Rives S 2007 :17488692}" "" "1414C→G" "EPOR protein truncated by 83 amino acids" "Germline" "" "" "0" "" "" "g.11378233G>C" "" "pathogenic" "" "0000474386" "10" "99" "19" "11488906" "11488906" "dup" "0" "01678" "EPOR_000016" "g.11488906dup" "1/27 patients" "{PMID:Kralovics R 1997:9292543}" "" "5967insT" "Truncation of the EPOR protein by 65 amino acids" "Germline" "" "" "0" "" "" "g.11378230dup" "" "pathogenic" "" "0000474387" "21" "99" "19" "11488900" "11488900" "dup" "0" "01678" "EPOR_000017" "g.11488900dup" "4/84 chromosomes" "{PMID:Sokol L 1995:7795221}" "BsmFI+" "5974insG" "Truncated EPOR protein lacking the last 64 amino acids of the C-terminal domain" "Germline" "" "" "0" "" "" "g.11378224dup" "" "pathogenic" "" "0000474388" "11" "99" "19" "11488899" "11488905" "dup" "0" "01678" "EPOR_000018" "g.11488899_11488905dup" "" "{PMID:Watowich SS 1999:10498627}" "" "duplication 5968 to 5975" "Swedish erythropoietin receptor" "Germline" "" "" "0" "" "" "g.11378223_11378229dup" "" "pathogenic" "" "0000474390" "0" "99" "19" "11488875" "11488876" "del" "0" "01678" "EPOR_000001" "g.11488875_11488876del" "" "{GenBankJQ821734.1}" "" "1311_1312delTC" "EPOR protein truncated for 77 amino acids" "Germline" "" "" "0" "" "" "g.11378199_11378200del" "" "pathogenic" "" "0000474391" "0" "99" "19" "11488875" "11488876" "del" "0" "01678" "EPOR_000001" "g.11488875_11488876del" "" "{GenBankJQ821734.1}" "" "1311_1312delTC" "EPOR protein truncated for 77 amino acids" "Germline" "" "" "0" "" "" "g.11378199_11378200del" "" "pathogenic" "" "0000894760" "0" "10" "19" "11489146" "11489146" "subst" "0.00126401" "02326" "EPOR_000019" "g.11489146C>T" "" "" "" "EPOR(NM_000121.4):c.1041G>A (p.P347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001030043" "0" "50" "19" "11488757" "11488757" "del" "0" "04817" "EPOR_000020" "g.11488757del" "" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "" "monoallelic pathogenic/ likely pathogenic variants are associated with [Erythrocytosis, familial, 1] OMIM 133100. Association with other vascular phenotypes requires further studies." "Germline" "?" "" "0" "" "" "g.11378081del" "" "VUS" "ACMG" "0001042598" "0" "50" "19" "11492715" "11492715" "subst" "0" "02327" "EPOR_000021" "g.11492715C>A" "" "" "" "" "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 EPOR ## Count = 27 "{{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}}" "0000048420" "00007181" "90" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Trp439*)" "8" "0000474368" "00007181" "99" "1195" "0" "1195" "0" "c.1195G>T" "r.(?)" "p.(Glu399*)" "8" "0000474369" "00007181" "99" "1249" "0" "1249" "0" "c.1249G>T" "r.(?)" "p.(Glu417*)" "8" "0000474370" "00007181" "99" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "8" "0000474371" "00007181" "99" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Gln434*)" "8" "0000474372" "00007181" "99" "1278" "0" "1278" "0" "c.1278C>G" "r.(?)" "p.(Tyr426*)" "8" "0000474373" "00007181" "79" "1235" "0" "1235" "0" "c.1235C>A" "r.(?)" "p.(Ser412*)" "8" "0000474374" "00007181" "99" "1299" "0" "1305" "0" "c.1299_1305del" "r.(?)" "p.(Gln434Cysfs*17)" "8" "0000474375" "00007181" "99" "1299" "0" "1305" "0" "c.1299_1305del" "r.(?)" "p.(Gln434Cysfs*17)" "8" "0000474376" "00007181" "99" "1234" "0" "1234" "0" "c.1234del" "r.(?)" "p.(Ser412Argfs*41)" "8" "0000474377" "00007181" "99" "1271" "0" "1272" "0" "c.1271_1272del" "r.(?)" "p.(Phe424*)" "8" "0000474378" "00007181" "99" "1142" "0" "1143" "0" "c.1142_1143del" "r.(?)" "p.(Pro381Glnfs*2)" "8" "0000474379" "00007181" "99" "1285" "0" "1285" "0" "c.1285del" "r.(?)" "p.(Leu429Trpfs*24)" "8" "0000474380" "00007181" "33" "1460" "0" "1460" "0" "c.1460A>G" "r.(?)" "p.(Asn487Ser)" "8" "0000474381" "00007181" "55" "1460" "0" "1460" "0" "c.1460A>G" "r.(?)" "p.(Asn487Ser)" "8" "0000474382" "00007181" "55" "1460" "0" "1460" "0" "c.1460A>G" "r.(?)" "p.Asn487Ser" "8" "0000474383" "00007181" "77" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Pro488Ser)" "8" "0000474384" "00007181" "55" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Pro488Ser)" "8" "0000474385" "00007181" "99" "1278" "0" "1278" "0" "c.1278C>G" "r.(?)" "p.(Tyr426*)" "8" "0000474386" "00007181" "99" "1281" "0" "1281" "0" "c.1281dup" "r.(?)" "p.(Ile428Tyrfs*17)" "8" "0000474387" "00007181" "99" "1288" "0" "1288" "0" "c.1288dup" "r.(?)" "p.(Asp430Glyfs*15)" "8" "0000474388" "00007181" "99" "1283" "0" "1289" "0" "c.1283_1289dup" "r.(?)" "p.(Ser432Glyfs*15)" "8" "0000474390" "00007181" "99" "1311" "0" "1312" "0" "c.1311_1312del" "r.(?)" "p.(Pro438Metfs*6)" "8" "0000474391" "00007181" "99" "1311" "0" "1312" "0" "c.1311_1312del" "r.(?)" "p.(Pro438Metfs*6)" "8" "0000894760" "00007181" "10" "1041" "0" "1041" "0" "c.1041G>A" "r.(?)" "p.(Pro347=)" "" "0001030043" "00007181" "50" "1431" "0" "1431" "0" "c.1431del" "r.(?)" "p.(Gly479Alafs*37)" "" "0001042598" "00007181" "50" "318" "0" "318" "0" "c.318G>T" "r.(?)" "p.(Trp106Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000025517" "0000048420" "0000232056" "0000474368" "0000232057" "0000474369" "0000232058" "0000474370" "0000232059" "0000474371" "0000232060" "0000474372" "0000232061" "0000474373" "0000232062" "0000474374" "0000232063" "0000474375" "0000232064" "0000474376" "0000232065" "0000474377" "0000232066" "0000474378" "0000232067" "0000474379" "0000232068" "0000474380" "0000232069" "0000474381" "0000232070" "0000474382" "0000232071" "0000474383" "0000232072" "0000474384" "0000232073" "0000474385" "0000232074" "0000474386" "0000232075" "0000474387" "0000232076" "0000474388" "0000232078" "0000474390" "0000232079" "0000474391" "0000466172" "0001030043"