### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IL7R) # 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}}" "IL7R" "interleukin 7 receptor" "5" "p13" "unknown" "NC_000005.9" "UD_134408440972" "" "https://www.LOVD.nl/IL7R" "" "1" "6024" "3575" "146661" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/IL7R_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-17 16:09:28" "00000" "2024-08-28 13:16:32" ## 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}}" "00009945" "IL7R" "interleukin 7 receptor" "001" "NM_002185.3" "" "NP_002176.2" "" "" "" "-103" "4497" "1380" "35856977" "35879705" "" "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" "2024-11-23 09:38:12" "02806" "IMD104" "immunodeficiency, type 104, severe combined" "AR" "608971" "brain" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-10-17 16:05:54" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IL7R" "02806" "IL7R" "05292" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00293841" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295208" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334299" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334848" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00433132" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "United States" "" "0" "" "" "Europe" "Pat112,1" "00433134" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "" "" "0" "" "" "Africa-E" "Pat114,1" "00437021" "" "" "" "1" "" "04535" "" "" "F" "" "China" "" "0" "" "" "" "" "00437939" "" "" "" "1" "" "04535" "" "" "F" "" "China" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00293841" "00198" "00295208" "00198" "00334299" "05793" "00334848" "05793" "00433132" "05292" "00433134" "05292" "00437021" "02806" "00437939" "02806" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02806, 05292, 05793 ## Count = 6 "{{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}}" "0000253109" "05793" "00334299" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253245" "05793" "00334848" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000323658" "05292" "00433132" "00006" "Familial, autosomal recessive" "2y" "severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323660" "05292" "00433134" "00006" "Familial, autosomal recessive" "5y" "severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000326941" "02806" "00437021" "04535" "Unknown" "" "Hepatosplenomegaly" "" "" "" "" "" "" "" "" "" "" "" "0000327844" "02806" "00437939" "04535" "Familial, autosomal recessive" "" "Hepatosplenomegaly" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295009" "00293841" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296376" "00295208" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335526" "00334299" "1" "04011" "04011" "2021-02-27 06:15:53" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336077" "00334848" "1" "04011" "04011" "2021-03-02 03:07:30" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000434563" "00433132" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "" "0000434565" "00433134" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000438506" "00437021" "1" "04535" "04535" "2023-10-12 04:57:03" "" "" "SEQ-NG" "DNA" "" "" "0000439423" "00437939" "1" "04535" "04535" "2023-10-17 07:00:18" "" "" "SEQ-NG" "DNA" "Peripheral Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000438506" "IL7R" "0000439423" "IL7R" ## 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 = 49 "{{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}}" "0000249070" "0" "10" "5" "35875593" "35875593" "subst" "0.48847" "02325" "IL7R_000009" "g.35875593A>T" "" "" "" "IL7R(NM_002185.5):c.801-21A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35875491A>T" "" "benign" "" "0000251136" "0" "10" "5" "35876251" "35876251" "subst" "0.010277" "02326" "IL7R_000011" "g.35876251A>C" "" "" "" "IL7R(NM_002185.2):c.1043A>C (p.N348T), IL7R(NM_002185.3):c.1043A>C (p.(Asn348Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35876149A>C" "" "benign" "" "0000251351" "0" "10" "5" "35873568" "35873568" "subst" "0.00762841" "02326" "IL7R_000006" "g.35873568A>C" "" "" "" "IL7R(NM_002185.2):c.538-14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35873466A>C" "" "benign" "" "0000281528" "0" "10" "5" "35861068" "35861068" "subst" "0.61892" "02325" "IL7R_000004" "g.35861068T>C" "" "" "" "IL7R(NM_002185.2):c.197T>C (p.I66T), IL7R(NM_002185.5):c.197T>C (p.I66T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35860966T>C" "" "benign" "" "0000281529" "0" "10" "5" "35871190" "35871190" "subst" "0.639773" "02325" "IL7R_000005" "g.35871190G>A" "" "" "" "IL7R(NM_002185.2):c.412G>A (p.V138I), IL7R(NM_002185.5):c.412G>A (p.V138I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35871088G>A" "" "benign" "" "0000281530" "0" "10" "5" "35874575" "35874575" "subst" "0.232924" "02325" "IL7R_000008" "g.35874575C>T" "" "" "" "IL7R(NM_002185.5):c.731C>T (p.T244I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35874473C>T" "" "benign" "" "0000281531" "0" "10" "5" "35857177" "35857177" "subst" "0.627239" "02325" "IL7R_000001" "g.35857177G>C" "" "" "" "IL7R(NM_002185.5):c.82+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35857075G>C" "" "benign" "" "0000285278" "0" "30" "5" "35876449" "35876449" "subst" "0.0103862" "02326" "IL7R_000014" "g.35876449C>T" "" "" "" "IL7R(NM_002185.2):c.1241C>T (p.T414M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35876347C>T" "" "likely benign" "" "0000285279" "0" "30" "5" "35861068" "35861068" "subst" "0.61892" "02326" "IL7R_000004" "g.35861068T>C" "" "" "" "IL7R(NM_002185.2):c.197T>C (p.I66T), IL7R(NM_002185.5):c.197T>C (p.I66T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35860966T>C" "" "likely benign" "" "0000285280" "0" "10" "5" "35871190" "35871190" "subst" "0.639773" "02326" "IL7R_000005" "g.35871190G>A" "" "" "" "IL7R(NM_002185.2):c.412G>A (p.V138I), IL7R(NM_002185.5):c.412G>A (p.V138I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35871088G>A" "" "benign" "" "0000285281" "0" "30" "5" "35873605" "35873605" "subst" "0.00921785" "02326" "IL7R_000007" "g.35873605G>A" "" "" "" "IL7R(NM_002185.2):c.561G>A (p.K187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35873503G>A" "" "likely benign" "" "0000285283" "0" "90" "5" "35875690" "35875690" "subst" "0" "02326" "IL7R_000010" "g.35875690G>A" "" "" "" "IL7R(NM_002185.2):c.876+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35875588G>A" "" "pathogenic" "" "0000289601" "0" "30" "5" "35876279" "35876279" "subst" "2.84854E-5" "01943" "IL7R_000012" "g.35876279T>C" "" "" "" "IL7R(NM_002185.2):c.1071T>C (p.T357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35876177T>C" "" "likely benign" "" "0000289602" "0" "70" "5" "35861003" "35861003" "subst" "4.06643E-6" "01943" "IL7R_000003" "g.35861003C>A" "" "" "" "IL7R(NM_002185.2):c.132C>A (p.S44R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35860901C>A" "" "likely pathogenic" "" "0000330308" "0" "50" "5" "35876300" "35876300" "subst" "0.00227463" "01804" "IL7R_000013" "g.35876300T>G" "" "" "" "IL7R(NM_002185.2):c.1092T>G (p.D364E), IL7R(NM_002185.3):c.1092T>G (p.(Asp364Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35876198T>G" "" "VUS" "" "0000525560" "0" "10" "5" "35857308" "35857309" "ins" "0" "02326" "IL7R_000015" "g.35857308_35857309insC" "" "" "" "IL7R(NM_002185.2):c.82+147_82+148insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35857206_35857207insC" "" "benign" "" "0000609697" "0" "30" "5" "35861024" "35861024" "subst" "0.00393249" "01804" "IL7R_000016" "g.35861024G>A" "" "" "" "IL7R(NM_002185.2):c.153G>A (p.S51=), IL7R(NM_002185.3):c.153G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35860922G>A" "" "likely benign" "" "0000609698" "0" "30" "5" "35876251" "35876251" "subst" "0.010277" "01804" "IL7R_000011" "g.35876251A>C" "" "" "" "IL7R(NM_002185.2):c.1043A>C (p.N348T), IL7R(NM_002185.3):c.1043A>C (p.(Asn348Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35876149A>C" "" "likely benign" "" "0000621562" "0" "30" "5" "35876458" "35876458" "subst" "0" "02326" "IL7R_000017" "g.35876458C>T" "" "" "" "IL7R(NM_002185.2):c.1250C>T (p.P417L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35876356C>T" "" "likely benign" "" "0000651698" "1" "50" "5" "35876565" "35876565" "subst" "0.00031629" "03575" "IL7R_000018" "g.35876565T>C" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs141919625}" "Germline" "" "rs141919625" "0" "" "" "g.35876463T>C" "" "VUS" "" "0000653065" "1" "10" "5" "35876251" "35876251" "subst" "0.010277" "03575" "IL7R_000011" "g.35876251A>C" "11/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs41270321}" "Germline" "" "rs41270321" "0" "" "" "g.35876149A>C" "" "benign" "" "0000655372" "0" "30" "5" "35867525" "35867525" "subst" "0.000289104" "01943" "IL7R_000019" "g.35867525A>C" "" "" "" "IL7R(NM_002185.2):c.339A>C (p.E113D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35867423A>C" "" "likely benign" "" "0000655373" "0" "50" "5" "35871197" "35871197" "subst" "0.000373993" "01943" "IL7R_000020" "g.35871197G>A" "" "" "" "IL7R(NM_002185.2):c.419G>A (p.R140Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35871095G>A" "" "VUS" "" "0000720408" "0" "30" "5" "35861018" "35861018" "subst" "0" "01943" "IL7R_000021" "g.35861018T>C" "" "" "" "IL7R(NM_002185.2):c.147T>C (p.N49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720409" "0" "70" "5" "35867451" "35867451" "subst" "1.22053E-5" "01943" "IL7R_000022" "g.35867451C>T" "" "" "" "IL7R(NM_002185.2):c.265C>T (p.Q89*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720410" "0" "50" "5" "35867500" "35867500" "subst" "0.000407017" "01943" "IL7R_000023" "g.35867500G>A" "" "" "" "IL7R(NM_002185.2):c.314G>A (p.S105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720411" "0" "70" "5" "35867547" "35867547" "dup" "0" "01943" "IL7R_000024" "g.35867547dup" "" "" "" "IL7R(NM_002185.2):c.361dupA (p.I121Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000733982" "0" "70" "5" "35867500" "35867500" "subst" "0.000407017" "04011" "IL7R_000023" "g.35867500G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735020" "0" "70" "5" "35867500" "35867500" "subst" "0.000407017" "04011" "IL7R_000023" "g.35867500G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000802080" "0" "50" "5" "35871238" "35871238" "subst" "8.12902E-5" "01943" "IL7R_000025" "g.35871238C>T" "" "" "" "IL7R(NM_002185.2):c.460C>T (p.H154Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802081" "0" "30" "5" "35871287" "35871287" "subst" "0.000260235" "01943" "IL7R_000026" "g.35871287G>A" "" "" "" "IL7R(NM_002185.2):c.509G>A (p.R170H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802082" "0" "30" "5" "35876373" "35876373" "subst" "0.000223655" "01943" "IL7R_000027" "g.35876373G>C" "" "" "" "IL7R(NM_002185.2):c.1165G>C (p.D389H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850897" "0" "30" "5" "35876524" "35876524" "subst" "0.00034521" "02326" "IL7R_000030" "g.35876524C>G" "" "" "" "IL7R(NM_002185.2):c.1316C>G (p.T439S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859913" "0" "30" "5" "35876439" "35876439" "subst" "0.00091637" "02326" "IL7R_000028" "g.35876439A>G" "" "" "" "IL7R(NM_002185.2):c.1231A>G (p.T411A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859914" "0" "50" "5" "35876445" "35876445" "subst" "8.14525E-6" "01943" "IL7R_000029" "g.35876445A>T" "" "" "" "IL7R(NM_002185.2):c.1237A>T (p.S413C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886813" "0" "30" "5" "35861024" "35861024" "subst" "0.00393249" "02326" "IL7R_000016" "g.35861024G>A" "" "" "" "IL7R(NM_002185.2):c.153G>A (p.S51=), IL7R(NM_002185.3):c.153G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912320" "0" "30" "5" "35874603" "35874603" "subst" "0.000203107" "02326" "IL7R_000031" "g.35874603C>T" "" "" "" "IL7R(NM_002185.2):c.759C>T (p.V253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912321" "0" "30" "5" "35876446" "35876446" "subst" "8.1479E-6" "02326" "IL7R_000032" "g.35876446G>A" "" "" "" "IL7R(NM_002185.2):c.1238G>A (p.S413N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920315" "21" "90" "5" "35867357" "35867581" "del" "0" "00006" "IL7R_000033" "g.(?_35867357)_(35867581_?)del" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "hg19 (35867357−35867581)x1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000920317" "3" "90" "5" "35874549" "35874549" "subst" "0" "00006" "IL7R_000034" "g.35874549A>G" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35874447A>G" "" "pathogenic" "ACMG" "0000920361" "2" "90" "5" "35867546" "35867547" "dup" "0" "00006" "IL7R_000024" "g.35867546_35867547dup" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "c.361dupA" "0.74 reads (revertant mosaicism)" "Germline" "" "" "0" "" "" "g.35867445dup" "" "pathogenic" "ACMG" "0000924331" "0" "30" "5" "35857172" "35857172" "subst" "0" "02326" "IL7R_000035" "g.35857172T>G" "" "" "" "IL7R(NM_002185.2):c.82+11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924332" "0" "90" "5" "35867540" "35867540" "subst" "0" "02327" "IL7R_000036" "g.35867540C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924333" "0" "30" "5" "35876300" "35876300" "subst" "0.00227463" "02326" "IL7R_000013" "g.35876300T>G" "" "" "" "IL7R(NM_002185.2):c.1092T>G (p.D364E), IL7R(NM_002185.3):c.1092T>G (p.(Asp364Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000934129" "0" "70" "5" "35861093" "35861093" "subst" "0" "04535" "IL7R_000037" "g.35861093G>A" "" "" "" "" "" "Germline" "" "rs1580851910" "0" "" "" "g.35860991G>A" "VCV000830061.3" "likely pathogenic" "" "0000935140" "21" "90" "5" "35861093" "35861093" "subst" "0" "04535" "IL7R_000037" "g.35861093G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35860991G>A" "" "pathogenic" "" "0000935141" "11" "50" "5" "35700839" "35968226" "del" "0" "04535" "IL7R_000038" "g.(?_35700839)_(35968226_?)del" "" "" "" "35700839_35968226del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000948550" "0" "30" "5" "35877140" "35877140" "subst" "0" "02326" "IL7R_000039" "g.35877140G>A" "" "" "" "IL7R(NR_120485.3):n.1756G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995006" "0" "30" "5" "35861085" "35861085" "subst" "0.000248206" "01804" "IL7R_000040" "g.35861085G>C" "" "" "" "IL7R(NM_002185.3):c.214G>C (p.(Glu72Gln))" "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 IL7R ## Count = 49 "{{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}}" "0000249070" "00009945" "10" "801" "-21" "801" "-21" "c.801-21A>T" "r.(=)" "p.(=)" "" "0000251136" "00009945" "10" "1043" "0" "1043" "0" "c.1043A>C" "r.(?)" "p.(Asn348Thr)" "" "0000251351" "00009945" "10" "538" "-14" "538" "-14" "c.538-14A>C" "r.(=)" "p.(=)" "" "0000281528" "00009945" "10" "197" "0" "197" "0" "c.197T>C" "r.(?)" "p.(Ile66Thr)" "" "0000281529" "00009945" "10" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Val138Ile)" "" "0000281530" "00009945" "10" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Thr244Ile)" "" "0000281531" "00009945" "10" "82" "16" "82" "16" "c.82+16G>C" "r.(=)" "p.(=)" "" "0000285278" "00009945" "30" "1241" "0" "1241" "0" "c.1241C>T" "r.(?)" "p.(Thr414Met)" "" "0000285279" "00009945" "30" "197" "0" "197" "0" "c.197T>C" "r.(?)" "p.(Ile66Thr)" "" "0000285280" "00009945" "10" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Val138Ile)" "" "0000285281" "00009945" "30" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Lys187=)" "" "0000285283" "00009945" "90" "876" "1" "876" "1" "c.876+1G>A" "r.spl?" "p.?" "" "0000289601" "00009945" "30" "1071" "0" "1071" "0" "c.1071T>C" "r.(?)" "p.(Thr357=)" "" "0000289602" "00009945" "70" "132" "0" "132" "0" "c.132C>A" "r.(?)" "p.(Ser44Arg)" "" "0000330308" "00009945" "50" "1092" "0" "1092" "0" "c.1092T>G" "r.(?)" "p.(Asp364Glu)" "" "0000525560" "00009945" "10" "82" "147" "82" "148" "c.82+147_82+148insC" "r.(=)" "p.(=)" "" "0000609697" "00009945" "30" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(Ser51=)" "" "0000609698" "00009945" "30" "1043" "0" "1043" "0" "c.1043A>C" "r.(?)" "p.(Asn348Thr)" "" "0000621562" "00009945" "30" "1250" "0" "1250" "0" "c.1250C>T" "r.(?)" "p.(Pro417Leu)" "" "0000651698" "00009945" "50" "1357" "0" "1357" "0" "c.1357T>C" "r.(?)" "p.(Ser453Pro)" "" "0000653065" "00009945" "10" "1043" "0" "1043" "0" "c.1043A>C" "r.(?)" "p.(Asn348Thr)" "" "0000655372" "00009945" "30" "339" "0" "339" "0" "c.339A>C" "r.(?)" "p.(Glu113Asp)" "" "0000655373" "00009945" "50" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Arg140Gln)" "" "0000720408" "00009945" "30" "147" "0" "147" "0" "c.147T>C" "r.(?)" "p.(Asn49=)" "" "0000720409" "00009945" "70" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Gln89*)" "" "0000720410" "00009945" "50" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Ser105Asn)" "" "0000720411" "00009945" "70" "361" "0" "361" "0" "c.361dup" "r.(?)" "p.(Ile121Asnfs*8)" "" "0000733982" "00009945" "50" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Ser105Asn)" "" "0000735020" "00009945" "50" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Ser105Asn)" "" "0000802080" "00009945" "50" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(His154Tyr)" "" "0000802081" "00009945" "30" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000802082" "00009945" "30" "1165" "0" "1165" "0" "c.1165G>C" "r.(?)" "p.(Asp389His)" "" "0000850897" "00009945" "30" "1316" "0" "1316" "0" "c.1316C>G" "r.(?)" "p.(Thr439Ser)" "" "0000859913" "00009945" "30" "1231" "0" "1231" "0" "c.1231A>G" "r.(?)" "p.(Thr411Ala)" "" "0000859914" "00009945" "50" "1237" "0" "1237" "0" "c.1237A>T" "r.(?)" "p.(Ser413Cys)" "" "0000886813" "00009945" "30" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(Ser51=)" "" "0000912320" "00009945" "30" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(=)" "" "0000912321" "00009945" "30" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Ser413Asn)" "" "0000920315" "00009945" "90" "222" "-51" "379" "16" "c.(?_222-51)_(379+16_?)del" "r.?" "p.?" "" "0000920317" "00009945" "90" "707" "-2" "707" "-2" "c.707-2A>G" "r.spl" "p.?" "5i" "0000920361" "00009945" "90" "361" "0" "361" "0" "c.361dup" "r.(?)" "p.(Ile121AsnfsTer8)" "3" "0000924331" "00009945" "30" "82" "11" "82" "11" "c.82+11T>G" "r.(=)" "p.(=)" "" "0000924332" "00009945" "90" "354" "0" "354" "0" "c.354C>A" "r.(?)" "p.(Cys118*)" "" "0000924333" "00009945" "30" "1092" "0" "1092" "0" "c.1092T>G" "r.(?)" "p.(Asp364Glu)" "" "0000934129" "00009945" "70" "221" "1" "221" "1" "c.221+1G>A" "r.spl" "p.?" "" "0000935140" "00009945" "90" "221" "1" "221" "1" "c.221+1G>A" "r.spl" "p.?" "" "0000935141" "00009945" "50" "0" "0" "0" "0" "c.-103_*3117{0}" "r.0" "p.0" "_1_8_" "0000948550" "00009945" "30" "1932" "0" "1932" "0" "c.*552G>A" "r.(=)" "p.(=)" "" "0000995006" "00009945" "30" "214" "0" "214" "0" "c.214G>C" "r.(?)" "p.(Glu72Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000295009" "0000651698" "0000296376" "0000653065" "0000335526" "0000733982" "0000336077" "0000735020" "0000434563" "0000920315" "0000434563" "0000920361" "0000434565" "0000920317" "0000438506" "0000934129" "0000439423" "0000935140" "0000439423" "0000935141"