### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CSF2RA) # 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}}" "CSF2RA" "colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)" "X" "p22.32 and Yp11.3" "unknown" "NC_000023.10" "UD_134408258216" "" "https://www.LOVD.nl/CSF2RA" "" "1" "2435" "1438" "306250" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. 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" "https://databases.lovd.nl/shared/refseq/CSF2RA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2021-10-20 14:51:06" "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}}" "00025644" "CSF2RA" "transcript variant 2" "006" "NM_172245.2" "" "NP_758448.1" "" "" "" "-170" "1659" "1203" "1337693" "1378828" "00006" "2021-10-20 14:45:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "04181" "SMDP4" "surfactant metabolism dysfunction, pulmonary, type 4 (SMDP4)" "" "300770" "" "" "" "00006" "2015-02-08 17:19:49" "00006" "2021-10-20 14:44:21" "04182" "SMDP" "surfactant metabolism dysfunction, pulmonary (SMDP)" "" "" "" "" "" "00006" "2015-02-08 17:20:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CSF2RA" "04181" "CSF2RA" "04182" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00173251" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173252" "" "" "" "91" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173438" "" "" "" "7" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173501" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173663" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00173251" "00187" "00173252" "00187" "00173438" "00187" "00173501" "00187" "00173663" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 04181, 04182 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000138115" "00187" "00173251" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138116" "00187" "00173252" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138302" "00187" "00173438" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138365" "00187" "00173501" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138527" "00187" "00173663" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000174134" "00173251" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174135" "00173252" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174321" "00173438" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174384" "00173501" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174546" "00173663" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000174134" "CXorf22" "0000174135" "CXorf22" "0000174321" "PNMA5" "0000174384" "BCORL1" "0000174546" "HNRNPH2" ## 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 = 48 "{{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}}" "0000251873" "0" "30" "X" "1428477" "1428477" "subst" "0" "02326" "CSF2RA_000005" "g.1428477A>T" "" "" "" "CSF2RA(NM_172246.3):c.1129A>T (p.I377F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000251977" "0" "30" "X" "1407415" "1407415" "subst" "0.00281749" "02326" "CSF2RA_000001" "g.1407415A>G" "" "" "" "CSF2RA(NM_001161530.1):c.223A>G (p.S75G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000267145" "0" "10" "X" "1407797" "1407798" "del" "0.549154" "02325" "CSF2RA_000002" "g.1407797_1407798del" "" "" "" "CSF2RA(NM_001161529.2):c.473+16_473+17delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000270605" "0" "10" "X" "1424328" "1424329" "del" "0" "02326" "CSF2RA_000004" "g.1424328_1424329del" "" "" "" "CSF2RA(NM_001161529.1):c.1044-11_1044-10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000270606" "0" "30" "X" "1409247" "1409247" "subst" "0.0051354" "02326" "CSF2RA_000003" "g.1409247G>A" "" "" "" "CSF2RA(NM_001161529.1):c.491G>A (p.R164Q), CSF2RA(NM_001161530.1):c.491G>A (p.R164Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000400908" "1" "30" "X" "1422856" "1422856" "subst" "0.000268332" "00124" "CSF2RA_000007" "g.1422856G>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V329V" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000400909" "1" "30" "X" "1422868" "1422868" "subst" "0.373445" "00124" "CSF2RA_000008" "g.1422868G>A" "91/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V333V" "recurrent, found 91 times" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000400956" "1" "50" "X" "1401646" "1401646" "subst" "0.0767173" "00124" "CSF2RA_000006" "g.1401646C>G" "7/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A17G" "recurrent, found 7 times" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000400985" "1" "50" "X" "1424340" "1424340" "subst" "0" "00124" "CSF2RA_000009" "g.1424340T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "F349L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000401050" "1" "50" "X" "1407415" "1407415" "subst" "0.00281749" "00124" "CSF2RA_000001" "g.1407415A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S75G" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000573930" "0" "30" "X" "1407471" "1407471" "subst" "0.00160186" "02326" "CSF2RA_000010" "g.1407471A>G" "" "" "" "CSF2RA(NM_001161529.1):c.279A>G (p.T93=), CSF2RA(NM_001161530.1):c.279A>G (p.T93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000573988" "0" "30" "X" "1424428" "1424428" "subst" "0.000211415" "02326" "CSF2RA_000011" "g.1424428G>A" "" "" "" "CSF2RA(NM_001161530.1):c.1227+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000659109" "0" "30" "X" "1404795" "1404795" "subst" "8.13134E-6" "02326" "CSF2RA_000012" "g.1404795C>G" "" "" "" "CSF2RA(NM_001161530.1):c.201C>G (p.N67K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000659110" "0" "30" "X" "1407492" "1407492" "subst" "0.000886309" "02326" "CSF2RA_000013" "g.1407492T>C" "" "" "" "CSF2RA(NM_001161530.1):c.300T>C (p.T100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682138" "0" "50" "X" "1404725" "1404725" "subst" "7.31814E-5" "01943" "CSF2RA_000014" "g.1404725C>T" "" "" "" "CSF2RA(NM_001161529.1):c.131C>T (p.T44M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682139" "0" "90" "X" "1407738" "1407738" "del" "0" "01943" "CSF2RA_000015" "g.1407738del" "" "" "" "CSF2RA(NM_006140.4):c.430delG (p.A144Pfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682140" "0" "30" "X" "1409305" "1409305" "subst" "0.000727755" "01943" "CSF2RA_000016" "g.1409305G>C" "" "" "" "CSF2RA(NM_001161529.1):c.549G>C (p.L183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682150" "0" "30" "X" "1413208" "1413208" "subst" "0.000800956" "02326" "CSF2RA_000017" "g.1413208G>A" "" "" "" "CSF2RA(NM_001161530.1):c.647-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682151" "0" "30" "X" "1413214" "1413214" "subst" "0.00076434" "01943" "CSF2RA_000018" "g.1413214G>A" "" "" "" "CSF2RA(NM_001161529.1):c.647-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682152" "0" "30" "X" "1422249" "1422249" "subst" "0" "01943" "CSF2RA_000019" "g.1422249C>A" "" "" "" "CSF2RA(NM_001161530.1):c.1042C>A (p.L348I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693392" "0" "30" "X" "1407423" "1407423" "subst" "1.21969E-5" "01943" "CSF2RA_000020" "g.1407423C>T" "" "" "" "CSF2RA(NM_001161529.1):c.231C>T (p.N77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693393" "0" "30" "X" "1407471" "1407471" "subst" "0.00160186" "01943" "CSF2RA_000010" "g.1407471A>G" "" "" "" "CSF2RA(NM_001161529.1):c.279A>G (p.T93=), CSF2RA(NM_001161530.1):c.279A>G (p.T93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693394" "0" "30" "X" "1407526" "1407526" "subst" "0.000272398" "01943" "CSF2RA_000021" "g.1407526C>T" "" "" "" "CSF2RA(NM_001161529.1):c.334C>T (p.P112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728493" "0" "30" "X" "1404785" "1404785" "subst" "0.000536668" "01943" "CSF2RA_000022" "g.1404785A>G" "" "" "" "CSF2RA(NM_001161529.1):c.191A>G (p.D64G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728494" "0" "30" "X" "1404797" "1404797" "subst" "0" "01943" "CSF2RA_000023" "g.1404797G>A" "" "" "" "CSF2RA(NM_001161529.1):c.203G>A (p.R68K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728495" "0" "30" "X" "1409247" "1409247" "subst" "0.0051354" "01943" "CSF2RA_000003" "g.1409247G>A" "" "" "" "CSF2RA(NM_001161529.1):c.491G>A (p.R164Q), CSF2RA(NM_001161530.1):c.491G>A (p.R164Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728500" "0" "30" "X" "1424542" "1424542" "subst" "8.5792E-6" "01943" "CSF2RA_000024" "g.1424542C>T" "" "" "" "CSF2RA(NM_001161531.1):c.1147C>T (p.R383W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728501" "0" "30" "X" "1428407" "1428407" "subst" "0.000211415" "01943" "CSF2RA_000025" "g.1428407C>T" "" "" "" "CSF2RA(NM_172246.2):c.1059C>T (p.S353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809977" "0" "30" "X" "1413250" "1413250" "subst" "0.000544795" "01943" "CSF2RA_000026" "g.1413250G>A" "" "" "" "CSF2RA(NM_001161529.1):c.676G>A (p.V226I), CSF2RA(NM_006140.5):c.676G>A (p.V226I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809978" "0" "50" "X" "1413330" "1413330" "subst" "2.03512E-5" "02325" "CSF2RA_000027" "g.1413330G>C" "" "" "" "CSF2RA(NM_006140.6):c.756G>C (p.Q252H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809979" "0" "30" "X" "1414314" "1414314" "subst" "4.06779E-6" "01943" "CSF2RA_000028" "g.1414314T>C" "" "" "" "CSF2RA(NM_001161529.1):c.781-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856388" "0" "30" "X" "1413255" "1413255" "subst" "0.000191085" "01943" "CSF2RA_000031" "g.1413255T>C" "" "" "" "CSF2RA(NM_001161529.1):c.681T>C (p.R227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856389" "0" "30" "X" "1422866" "1422866" "subst" "0.000390301" "01943" "CSF2RA_000032" "g.1422866G>A" "" "" "" "CSF2RA(NM_001161529.1):c.997G>A (p.V333M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856390" "0" "50" "X" "1422903" "1422903" "subst" "0.000134167" "01943" "CSF2RA_000033" "g.1422903T>C" "" "" "" "CSF2RA(NM_001161529.1):c.1034T>C (p.L345P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867098" "0" "30" "X" "1407424" "1407424" "subst" "1.21969E-5" "01943" "CSF2RA_000029" "g.1407424G>A" "" "" "" "CSF2RA(NM_001161529.1):c.232G>A (p.E78K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867099" "0" "30" "X" "1407745" "1407745" "subst" "3.25256E-5" "01943" "CSF2RA_000030" "g.1407745G>A" "" "" "" "CSF2RA(NM_001161529.1):c.437G>A (p.R146H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867108" "0" "30" "X" "1424378" "1424378" "subst" "0" "01943" "CSF2RA_000034" "g.1424378G>A" "" "" "" "CSF2RA(NM_172247.2):c.986G>A (p.R329K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867109" "0" "30" "X" "1424523" "1424523" "subst" "0" "01943" "CSF2RA_000035" "g.1424523G>A" "" "" "" "CSF2RA(NM_001161531.1):c.1128G>A (p.M376I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895956" "0" "50" "X" "1407412" "1407412" "subst" "0" "02325" "CSF2RA_000036" "g.1407412C>G" "" "" "" "CSF2RA(NM_006140.6):c.220C>G (p.L74V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895957" "0" "30" "X" "1407736" "1407736" "subst" "0.000178891" "02326" "CSF2RA_000037" "g.1407736C>T" "" "" "" "CSF2RA(NM_006140.5):c.428C>T (p.T143M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895958" "0" "30" "X" "1413250" "1413250" "subst" "0" "02326" "CSF2RA_000038" "g.1413250G>T" "" "" "" "CSF2RA(NM_006140.5):c.676G>T (p.V226L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895959" "0" "30" "X" "1424437" "1424437" "subst" "0.0046186" "02326" "CSF2RA_000039" "g.1424437G>A" "" "" "" "CSF2RA(NM_006140.5):c.1125+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927268" "0" "10" "X" "1407733" "1407733" "subst" "0.00324844" "02326" "CSF2RA_000040" "g.1407733C>T" "" "" "" "CSF2RA(NM_006140.5):c.425C>T (p.P142L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931347" "0" "30" "X" "1409286" "1409286" "subst" "0.00021548" "02326" "CSF2RA_000041" "g.1409286G>C" "" "" "" "CSF2RA(NM_006140.5):c.530G>C (p.G177A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931348" "0" "30" "X" "1413250" "1413250" "subst" "0.000544795" "02326" "CSF2RA_000026" "g.1413250G>A" "" "" "" "CSF2RA(NM_001161529.1):c.676G>A (p.V226I), CSF2RA(NM_006140.5):c.676G>A (p.V226I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951691" "0" "50" "X" "1413266" "1413266" "subst" "0.000256135" "02325" "CSF2RA_000042" "g.1413266C>T" "" "" "" "CSF2RA(NM_006140.6):c.692C>T (p.T231M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044139" "0" "50" "X" "1407701" "1407701" "subst" "0.000264268" "01804" "CSF2RA_000043" "g.1407701G>A" "" "" "" "CSF2RA(NM_172245.4):c.393G>A (p.(Ala131=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044140" "0" "50" "X" "1407744" "1407744" "subst" "0.00012197" "01804" "CSF2RA_000044" "g.1407744C>T" "" "" "" "CSF2RA(NM_172245.4):c.436C>T (p.(Arg146Cys))" "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 CSF2RA ## Count = 48 "{{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}}" "0000251873" "00025644" "30" "1308" "0" "1308" "0" "c.*105A>T" "r.(=)" "p.(=)" "" "0000251977" "00025644" "30" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Ser75Gly)" "" "0000267145" "00025644" "10" "473" "16" "473" "17" "c.473+16_473+17del" "r.(=)" "p.(=)" "" "0000270605" "00025644" "10" "1044" "-11" "1044" "-10" "c.1044-11_1044-10del" "r.(=)" "p.(=)" "" "0000270606" "00025644" "30" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164Gln)" "" "0000400908" "00025644" "30" "987" "0" "987" "0" "c.987G>C" "r.(?)" "p.(=)" "" "0000400909" "00025644" "30" "999" "0" "999" "0" "c.999G>A" "r.(?)" "p.(=)" "" "0000400956" "00025644" "50" "50" "0" "50" "0" "c.50C>G" "r.(?)" "p.(Ala17Gly)" "" "0000400985" "00025644" "50" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Phe349Leu)" "" "0000401050" "00025644" "50" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Ser75Gly)" "" "0000573930" "00025644" "30" "279" "0" "279" "0" "c.279A>G" "r.(?)" "p.(Thr93=)" "" "0000573988" "00025644" "30" "1125" "8" "1125" "8" "c.1125+8G>A" "r.(=)" "p.(=)" "" "0000659109" "00025644" "30" "201" "0" "201" "0" "c.201C>G" "r.(?)" "p.(Asn67Lys)" "" "0000659110" "00025644" "30" "300" "0" "300" "0" "c.300T>C" "r.(?)" "p.(Thr100=)" "" "0000682138" "00025644" "50" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Thr44Met)" "" "0000682139" "00025644" "90" "430" "0" "430" "0" "c.430del" "r.(?)" "p.(Ala144ProfsTer43)" "" "0000682140" "00025644" "30" "549" "0" "549" "0" "c.549G>C" "r.(?)" "p.(Leu183=)" "" "0000682150" "00025644" "30" "647" "-13" "647" "-13" "c.647-13G>A" "r.(=)" "p.(=)" "" "0000682151" "00025644" "30" "647" "-7" "647" "-7" "c.647-7G>A" "r.(=)" "p.(=)" "" "0000682152" "00025644" "30" "947" "-567" "947" "-567" "c.947-567C>A" "r.(=)" "p.(=)" "" "0000693392" "00025644" "30" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(Asn77=)" "" "0000693393" "00025644" "30" "279" "0" "279" "0" "c.279A>G" "r.(?)" "p.(Thr93=)" "" "0000693394" "00025644" "30" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Pro112Ser)" "" "0000728493" "00025644" "30" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Asp64Gly)" "" "0000728494" "00025644" "30" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Arg68Lys)" "" "0000728495" "00025644" "30" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164Gln)" "" "0000728500" "00025644" "30" "1125" "122" "1125" "122" "c.1125+122C>T" "r.(=)" "p.(=)" "" "0000728501" "00025644" "30" "1238" "0" "1238" "0" "c.*35C>T" "r.(=)" "p.(=)" "" "0000809977" "00025644" "30" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Val226Ile)" "" "0000809978" "00025644" "50" "756" "0" "756" "0" "c.756G>C" "r.(?)" "p.(Gln252His)" "" "0000809979" "00025644" "30" "781" "-6" "781" "-6" "c.781-6T>C" "r.(=)" "p.(=)" "" "0000856388" "00025644" "30" "681" "0" "681" "0" "c.681T>C" "r.(?)" "p.(Arg227=)" "" "0000856389" "00025644" "30" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Val333Met)" "" "0000856390" "00025644" "50" "1034" "0" "1034" "0" "c.1034T>C" "r.(?)" "p.(Leu345Pro)" "" "0000867098" "00025644" "30" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Glu78Lys)" "" "0000867099" "00025644" "30" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" "0000867108" "00025644" "30" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(Gln361=)" "" "0000867109" "00025644" "30" "1125" "103" "1125" "103" "c.1125+103G>A" "r.(=)" "p.(=)" "" "0000895956" "00025644" "50" "220" "0" "220" "0" "c.220C>G" "r.(?)" "p.(Leu74Val)" "" "0000895957" "00025644" "30" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Thr143Met)" "" "0000895958" "00025644" "30" "676" "0" "676" "0" "c.676G>T" "r.(?)" "p.(Val226Leu)" "" "0000895959" "00025644" "30" "1125" "17" "1125" "17" "c.1125+17G>A" "r.(=)" "p.(=)" "" "0000927268" "00025644" "10" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Pro142Leu)" "" "0000931347" "00025644" "30" "530" "0" "530" "0" "c.530G>C" "r.(?)" "p.(Gly177Ala)" "" "0000931348" "00025644" "30" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Val226Ile)" "" "0000951691" "00025644" "50" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Thr231Met)" "" "0001044139" "00025644" "50" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(=)" "" "0001044140" "00025644" "50" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000174134" "0000400908" "0000174135" "0000400909" "0000174321" "0000400956" "0000174384" "0000400985" "0000174546" "0000401050"