### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CECR1)
# 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}}"
"CECR1" "cat eye syndrome chromosome region, candidate 1" "22" "q11.2" "unknown" "NC_000022.10" "UD_132437357856" "" "https://www.LOVD.nl/ADA2" "" "1" "1839" "51816" "607575" "1" "1" "1" "1" "NOTE: gene symbol was recently changed from CECR1 to ADA2 (adenosine deaminase 2).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-10 16:35:44" "00000" "2025-07-08 13:22:38"
## 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}}"
"00004931" "CECR1" "transcript variant 1" "002" "NM_017424.2" "" "NP_059120.2" "" "" "" "-212" "3715" "1536" "17690779" "17660194" "" "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}}"
"01559" "SNDNS" "Sneddon syndrome (livedo reticularis and cerebrovascular accidents)" "AR" "182410" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02674" "CVID1" "immunodeficiency, variable, common, type 1 (CVID-1)" "AR" "607594" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04401" "VAIHS" "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" "AR" "615688" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32"
"05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"CECR1" "01559"
"CECR1" "04401"
## Individuals ## Do not remove or alter this header ##
## Count = 10
"{{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}}"
"00210900" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA174"
"00210930" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA204"
"00210965" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA239"
"00210967" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA241"
"00210968" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA242"
"00210969" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA243"
"00210970" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA244"
"00211019" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA293"
"00211054" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA328"
"00451669" "" "" "" "1" "" "03256" "{DOI:Balažiová 2024:10.36290/vnl.2024.048}" "" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "Pat3"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 10
"{{individualid}}" "{{diseaseid}}"
"00210900" "05484"
"00210930" "05484"
"00210965" "05484"
"00210967" "05484"
"00210968" "05484"
"00210969" "05484"
"00210970" "05484"
"00211019" "05484"
"00211054" "05484"
"00451669" "02674"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 01559, 02674, 04401, 05484
## Count = 10
"{{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}}"
"0000159462" "05484" "00210900" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia"
"0000159492" "05484" "00210930" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia"
"0000159527" "05484" "00210965" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia"
"0000159529" "05484" "00210967" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia"
"0000159530" "05484" "00210968" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia"
"0000159531" "05484" "00210969" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia"
"0000159532" "05484" "00210970" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia"
"0000159581" "05484" "00211019" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia"
"0000159616" "05484" "00211054" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia"
"0000340330" "02674" "00451669" "03256" "Familial" "" "Young male patient presenting with immunodeficient and haematological disorders" "00y01m" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 10
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000211978" "00210900" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000212008" "00210930" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000212043" "00210965" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000212045" "00210967" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000212046" "00210968" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000212047" "00210969" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000212048" "00210970" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000212097" "00211019" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000212132" "00211054" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000453273" "00451669" "1" "03256" "03256" "2024-06-26 15:09:18" "00006" "2024-06-27 15:00:51" "SEQ" "DNA" "blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{geneid}}"
"0000211978" "CECR1"
"0000212008" "CECR1"
"0000212043" "CECR1"
"0000212045" "CECR1"
"0000212046" "CECR1"
"0000212047" "CECR1"
"0000212048" "CECR1"
"0000212097" "CECR1"
"0000212132" "CECR1"
"0000453273" "CECR1"
## 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 = 88
"{{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}}"
"0000251053" "0" "10" "22" "17662793" "17662793" "subst" "0.256393" "02326" "CECR1_000003" "g.17662793A>G" "" "" "" "ADA2(NM_001282225.2):c.1359T>C (p.Y453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17181903A>G" "" "benign" ""
"0000251646" "0" "10" "22" "17662699" "17662699" "subst" "0.256253" "02326" "CECR1_000002" "g.17662699A>G" "" "" "" "ADA2(NM_001282225.2):c.1442+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17181809A>G" "" "benign" ""
"0000251647" "0" "10" "22" "17669142" "17669142" "subst" "0" "02326" "CECR1_000005" "g.17669142A>G" "" "" "" "ADA2(NM_001282225.2):c.1081+87T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17188252A>G" "" "benign" ""
"0000268092" "0" "90" "22" "17687997" "17687997" "subst" "0.000503545" "02329" "CECR1_000013" "g.17687997C>T" "" "" "" "ADA2(NM_001282225.2):c.506G>A (p.R169Q), ADA2(NM_001282226.1):c.506G>A (p.R169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17207107C>T" "" "pathogenic" ""
"0000269958" "0" "30" "22" "17669265" "17669265" "subst" "0.0021046" "02326" "CECR1_000008" "g.17669265C>T" "" "" "" "ADA2(NM_001282225.2):c.1045G>A (p.(Val349Ile), p.V349I), ADA2(NM_001282226.1):c.1045G>A (p.V349I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17188375C>T" "" "likely benign" ""
"0000269959" "0" "30" "22" "17669218" "17669218" "subst" "6.10804E-5" "02326" "CECR1_000007" "g.17669218C>T" "" "" "" "ADA2(NM_001282225.2):c.1081+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17188328C>T" "" "likely benign" ""
"0000269960" "0" "30" "22" "17669211" "17669211" "subst" "0.00306723" "02326" "CECR1_000006" "g.17669211C>T" "" "" "" "ADA2(NM_001282225.2):c.1081+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17188321C>T" "" "likely benign" ""
"0000269961" "0" "10" "22" "17662917" "17662917" "subst" "0.246882" "02326" "CECR1_000004" "g.17662917G>C" "" "" "" "ADA2(NM_001282225.2):c.1240-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17182027G>C" "" "benign" ""
"0000269962" "0" "70" "22" "17690428" "17690428" "subst" "0" "02326" "CECR1_000015" "g.17690428C>T" "" "" "" "ADA2(NM_001282225.2):c.140G>A (p.G47E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17209538C>T" "" "likely pathogenic" ""
"0000269963" "0" "90" "22" "17690428" "17690428" "subst" "4.46737E-5" "02326" "CECR1_000016" "g.17690428C>A" "" "" "" "ADA2(NM_001282225.2):c.140G>T (p.(Gly47Val), p.G47V), ADA2(NM_001282226.1):c.140G>T (p.G47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17209538C>A" "" "pathogenic" ""
"0000269964" "0" "70" "22" "17688118" "17688118" "subst" "0" "02326" "CECR1_000014" "g.17688118T>G" "" "" "" "ADA2(NM_001282225.2):c.385A>C (p.T129P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17207228T>G" "" "likely pathogenic" ""
"0000269965" "0" "90" "22" "17687997" "17687997" "subst" "0.000503545" "02326" "CECR1_000013" "g.17687997C>T" "" "" "" "ADA2(NM_001282225.2):c.506G>A (p.R169Q), ADA2(NM_001282226.1):c.506G>A (p.R169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17207107C>T" "" "pathogenic" ""
"0000269966" "0" "30" "22" "17670877" "17670877" "subst" "0.00174208" "02326" "CECR1_000010" "g.17670877C>T" "" "" "" "ADA2(NM_001282225.2):c.927G>A (p.M309I), ADA2(NM_001282226.1):c.927G>A (p.M309I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17189987C>T" "" "likely benign" ""
"0000269967" "0" "90" "22" "17669339" "17669339" "subst" "0.000118112" "02326" "CECR1_000009" "g.17669339T>C" "" "" "" "ADA2(NM_001282225.2):c.973-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17188449T>C" "" "pathogenic" ""
"0000273084" "0" "30" "22" "17669265" "17669265" "subst" "0.0021046" "01943" "CECR1_000008" "g.17669265C>T" "" "" "" "ADA2(NM_001282225.2):c.1045G>A (p.(Val349Ile), p.V349I), ADA2(NM_001282226.1):c.1045G>A (p.V349I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17188375C>T" "" "likely benign" ""
"0000273085" "0" "50" "22" "17684644" "17684644" "subst" "6.5128E-5" "01943" "CECR1_000012" "g.17684644G>C" "" "" "" "ADA2(NM_001282225.2):c.562C>G (p.L188V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17203754G>C" "" "VUS" ""
"0000273086" "0" "30" "22" "17670877" "17670877" "subst" "0.00174208" "01943" "CECR1_000010" "g.17670877C>T" "" "" "" "ADA2(NM_001282225.2):c.927G>A (p.M309I), ADA2(NM_001282226.1):c.927G>A (p.M309I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17189987C>T" "" "likely benign" ""
"0000342054" "0" "90" "22" "17687997" "17687997" "subst" "0.000503545" "02327" "CECR1_000013" "g.17687997C>T" "" "" "" "ADA2(NM_001282225.2):c.506G>A (p.R169Q), ADA2(NM_001282226.1):c.506G>A (p.R169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17207107C>T" "" "pathogenic" ""
"0000443613" "3" "90" "22" "17662818" "17662818" "subst" "0" "00006" "CECR1_000020" "g.17662818A>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.17181928A>T" "" "pathogenic (recessive)" ""
"0000443649" "3" "90" "22" "17662468" "17662468" "subst" "0" "00006" "CECR1_000017" "g.17662468T>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.17181578T>A" "" "pathogenic (recessive)" ""
"0000443684" "3" "90" "22" "17669238" "17669238" "subst" "2.43984E-5" "00006" "CECR1_000021" "g.17669238C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.17188348C>T" "" "pathogenic (recessive)" ""
"0000443686" "3" "90" "22" "17669238" "17669238" "subst" "2.43984E-5" "00006" "CECR1_000021" "g.17669238C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.17188348C>T" "" "pathogenic (recessive)" ""
"0000443687" "1" "90" "22" "17690430" "17690430" "del" "0" "00006" "CECR1_000023" "g.17690430del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.17690425del" "" "Germline" "" "" "0" "" "" "g.17209540del" "" "pathogenic (recessive)" ""
"0000443688" "2" "90" "22" "17662785" "17662785" "subst" "8.12176E-6" "00006" "CECR1_000019" "g.17662785T>C" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.17181895T>C" "" "pathogenic (recessive)" ""
"0000443689" "3" "90" "22" "17662752" "17662758" "del" "0" "00006" "CECR1_000018" "g.17662752_17662758del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.17662749_17662755del" "" "Germline" "" "" "0" "" "" "g.17181862_17181868del" "" "pathogenic (recessive)" ""
"0000443690" "3" "90" "22" "17662752" "17662758" "del" "0" "00006" "CECR1_000018" "g.17662752_17662758del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.17662749_17662755del" "" "Germline" "" "" "0" "" "" "g.17181862_17181868del" "" "pathogenic (recessive)" ""
"0000443740" "3" "90" "22" "17662752" "17662758" "del" "0" "00006" "CECR1_000018" "g.17662752_17662758del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.17662749_17662755del" "" "Germline" "" "" "0" "" "" "g.17181862_17181868del" "" "pathogenic (recessive)" ""
"0000443775" "3" "90" "22" "17690423" "17690423" "del" "0" "00006" "CECR1_000022" "g.17690423del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.17209533del" "" "pathogenic (recessive)" ""
"0000571244" "0" "30" "22" "17662214" "17662215" "ins" "0" "02326" "CECR1_000024" "g.17662214_17662215insT" "" "" "" "ADA2(NM_001282225.2):c.*158_*159insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17181324_17181325insT" "" "likely benign" ""
"0000571245" "0" "10" "22" "17662699" "17662699" "subst" "0.256253" "02327" "CECR1_000002" "g.17662699A>G" "" "" "" "ADA2(NM_001282225.2):c.1442+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17181809A>G" "" "benign" ""
"0000571246" "0" "30" "22" "17662766" "17662766" "subst" "4.87329E-5" "02326" "CECR1_000025" "g.17662766A>G" "" "" "" "ADA2(NM_001282225.2):c.1386T>C (p.I462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17181876A>G" "" "likely benign" ""
"0000571247" "0" "10" "22" "17662793" "17662793" "subst" "0.256393" "02327" "CECR1_000003" "g.17662793A>G" "" "" "" "ADA2(NM_001282225.2):c.1359T>C (p.Y453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17181903A>G" "" "benign" ""
"0000571248" "0" "10" "22" "17662917" "17662917" "subst" "0.246882" "02327" "CECR1_000004" "g.17662917G>C" "" "" "" "ADA2(NM_001282225.2):c.1240-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17182027G>C" "" "benign" ""
"0000571249" "0" "30" "22" "17669226" "17669226" "subst" "0" "01943" "CECR1_000026" "g.17669226C>T" "" "" "" "ADA2(NM_001282225.2):c.1081+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17188336C>T" "" "likely benign" ""
"0000571250" "0" "10" "22" "17669306" "17669306" "subst" "0.339272" "02327" "CECR1_000027" "g.17669306T>C" "" "" "" "ADA2(NM_001282225.2):c.1004A>G (p.H335R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17188416T>C" "" "benign" ""
"0000571251" "0" "30" "22" "17670854" "17670854" "subst" "5.68546E-5" "01943" "CECR1_000028" "g.17670854G>A" "" "" "" "ADA2(NM_001282225.2):c.950C>T (p.T317M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17189964G>A" "" "likely benign" ""
"0000571252" "0" "30" "22" "17670933" "17670933" "del" "0.000329078" "02326" "CECR1_000029" "g.17670933del" "" "" "" "ADA2(NM_001282225.2):c.882-11delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17190043del" "" "likely benign" ""
"0000571253" "0" "90" "22" "17687997" "17687997" "subst" "0.000503545" "02325" "CECR1_000013" "g.17687997C>T" "" "" "" "ADA2(NM_001282225.2):c.506G>A (p.R169Q), ADA2(NM_001282226.1):c.506G>A (p.R169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17207107C>T" "" "pathogenic" ""
"0000571254" "0" "10" "22" "17690409" "17690409" "subst" "0.433759" "02327" "CECR1_000030" "g.17690409G>A" "" "" "" "ADA2(NM_001282225.2):c.159C>T (p.N53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17209519G>A" "" "benign" ""
"0000571255" "0" "90" "22" "17690411" "17690411" "del" "0" "02327" "CECR1_000031" "g.17690411del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17209521del" "" "pathogenic" ""
"0000618445" "0" "30" "22" "17687995" "17687995" "subst" "0" "01943" "CECR1_000032" "g.17687995T>C" "" "" "" "ADA2(NM_001282225.2):c.508A>G (p.K170E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17207105T>C" "" "likely benign" ""
"0000658867" "0" "30" "22" "17690374" "17690374" "subst" "0.000674117" "02326" "CECR1_000033" "g.17690374G>A" "" "" "" "ADA2(NM_001282225.2):c.194C>T (p.T65M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17209484G>A" "" "likely benign" ""
"0000658868" "0" "90" "22" "17690428" "17690428" "subst" "4.46737E-5" "01943" "CECR1_000016" "g.17690428C>A" "" "" "" "ADA2(NM_001282225.2):c.140G>T (p.(Gly47Val), p.G47V), ADA2(NM_001282226.1):c.140G>T (p.G47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17209538C>A" "" "pathogenic" ""
"0000681771" "0" "30" "22" "17672671" "17672671" "subst" "0.000158631" "01943" "CECR1_000034" "g.17672671G>A" "" "" "" "ADA2(NM_001282226.1):c.783C>T (p.D261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000693096" "0" "90" "22" "17687997" "17687997" "subst" "0.000503545" "01943" "CECR1_000013" "g.17687997C>T" "" "" "" "ADA2(NM_001282225.2):c.506G>A (p.R169Q), ADA2(NM_001282226.1):c.506G>A (p.R169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000693097" "0" "90" "22" "17690428" "17690428" "subst" "4.46737E-5" "02327" "CECR1_000016" "g.17690428C>A" "" "" "" "ADA2(NM_001282225.2):c.140G>T (p.(Gly47Val), p.G47V), ADA2(NM_001282226.1):c.140G>T (p.G47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000728021" "0" "90" "22" "17669339" "17669339" "subst" "0.000118112" "02327" "CECR1_000009" "g.17669339T>C" "" "" "" "ADA2(NM_001282225.2):c.973-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000728022" "0" "70" "22" "17669339" "17669339" "subst" "0.000118112" "02329" "CECR1_000009" "g.17669339T>C" "" "" "" "ADA2(NM_001282225.2):c.973-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000728023" "0" "50" "22" "17684499" "17684499" "subst" "2.84292E-5" "02329" "CECR1_000011" "g.17684499T>C" "" "" "" "ADA2(NM_001282225.2):c.707A>G (p.Y236C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809464" "0" "50" "22" "17662900" "17662900" "subst" "3.66871E-5" "01943" "CECR1_000035" "g.17662900C>A" "" "" "" "ADA2(NM_001282226.1):c.1252G>T (p.V418L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809465" "0" "70" "22" "17669241" "17669241" "subst" "2.84604E-5" "02325" "CECR1_000036" "g.17669241C>T" "" "" "" "ADA2(NM_001282225.2):c.1069G>A (p.A357T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000809466" "0" "50" "22" "17669255" "17669255" "subst" "4.06319E-6" "02325" "CECR1_000037" "g.17669255G>C" "" "" "" "ADA2(NM_001282225.2):c.1055C>G (p.P352R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809467" "0" "30" "22" "17684504" "17684504" "subst" "0.000134018" "02326" "CECR1_000038" "g.17684504C>T" "" "" "" "ADA2(NM_001282225.2):c.702G>A (p.E234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809468" "0" "70" "22" "17684628" "17684628" "subst" "2.03265E-5" "02325" "CECR1_000039" "g.17684628G>A" "" "" "" "ADA2(NM_001282225.2):c.578C>T (p.P193L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000856052" "0" "50" "22" "17690296" "17690296" "subst" "4.46737E-5" "01943" "CECR1_000040" "g.17690296T>C" "" "" "" "ADA2(NM_001282226.1):c.272A>G (p.H91R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000866718" "0" "10" "22" "17690409" "17690409" "subst" "0.433759" "02325" "CECR1_000030" "g.17690409G>A" "" "" "" "ADA2(NM_001282225.2):c.159C>T (p.N53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000866719" "0" "90" "22" "17690428" "17690428" "subst" "4.46737E-5" "02325" "CECR1_000016" "g.17690428C>A" "" "" "" "ADA2(NM_001282225.2):c.140G>T (p.(Gly47Val), p.G47V), ADA2(NM_001282226.1):c.140G>T (p.G47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000895570" "0" "10" "22" "17662699" "17662699" "subst" "0.256253" "02325" "CECR1_000002" "g.17662699A>G" "" "" "" "ADA2(NM_001282225.2):c.1442+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000895571" "0" "10" "22" "17662793" "17662793" "subst" "0.256393" "02325" "CECR1_000003" "g.17662793A>G" "" "" "" "ADA2(NM_001282225.2):c.1359T>C (p.Y453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000895572" "0" "90" "22" "17662794" "17662794" "subst" "7.71555E-5" "02325" "CECR1_000041" "g.17662794T>C" "" "" "" "ADA2(NM_001282225.2):c.1358A>G (p.Y453C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000895573" "0" "10" "22" "17662917" "17662917" "subst" "0.246882" "02325" "CECR1_000004" "g.17662917G>C" "" "" "" "ADA2(NM_001282225.2):c.1240-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000895574" "0" "10" "22" "17669306" "17669306" "subst" "0.339272" "02325" "CECR1_000027" "g.17669306T>C" "" "" "" "ADA2(NM_001282225.2):c.1004A>G (p.H335R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000895575" "0" "10" "22" "17669306" "17669306" "subst" "0.339272" "02326" "CECR1_000027" "g.17669306T>C" "" "" "" "ADA2(NM_001282225.2):c.1004A>G (p.H335R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000895576" "0" "30" "22" "17670939" "17670939" "subst" "2.43918E-5" "02326" "CECR1_000042" "g.17670939G>A" "" "" "" "ADA2(NM_001282225.2):c.882-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000895577" "0" "10" "22" "17690430" "17690430" "subst" "0.153961" "02326" "CECR1_000043" "g.17690430C>G" "" "" "" "ADA2(NM_001282225.2):c.138G>C (p.L46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000895578" "0" "10" "22" "17700284" "17700284" "subst" "0" "02327" "CECR1_000044" "g.17700284C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000915482" "0" "30" "22" "17688141" "17688141" "subst" "0.000146219" "02326" "CECR1_000045" "g.17688141A>G" "" "" "" "ADA2(NM_001282225.2):c.362T>C (p.M121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000915483" "0" "10" "22" "17690409" "17690409" "subst" "0.433759" "02326" "CECR1_000030" "g.17690409G>A" "" "" "" "ADA2(NM_001282225.2):c.159C>T (p.N53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000915484" "0" "90" "22" "17690429" "17690429" "subst" "0.00010967" "02325" "CECR1_000046" "g.17690429C>T" "" "" "" "ADA2(NM_001282225.2):c.139G>A (p.G47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000931239" "0" "30" "22" "17663696" "17663722" "del" "0" "02325" "CECR1_000047" "g.17663696_17663722del" "" "" "" "ADA2(NM_001282225.2):c.1082-42_1082-16delGACCCATCCATCCCCCATGGAAGACCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000931240" "0" "30" "22" "17670854" "17670854" "subst" "5.68546E-5" "02326" "CECR1_000028" "g.17670854G>A" "" "" "" "ADA2(NM_001282225.2):c.950C>T (p.T317M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000931241" "0" "90" "22" "17670872" "17670872" "subst" "5.68509E-5" "02327" "CECR1_000048" "g.17670872A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000931242" "0" "90" "22" "17690429" "17690429" "subst" "0.00010967" "02327" "CECR1_000046" "g.17690429C>T" "" "" "" "ADA2(NM_001282225.2):c.139G>A (p.G47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000931243" "0" "30" "22" "17690430" "17690430" "subst" "0.153961" "02325" "CECR1_000043" "g.17690430C>G" "" "" "" "ADA2(NM_001282225.2):c.138G>C (p.L46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000951531" "0" "50" "22" "17690339" "17690339" "subst" "4.06081E-6" "02325" "CECR1_000049" "g.17690339T>G" "" "" "" "ADA2(NM_001282225.2):c.229A>C (p.T77P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000984080" "0" "30" "22" "17669265" "17669265" "subst" "0.0021046" "01804" "CECR1_000008" "g.17669265C>T" "" "" "" "ADA2(NM_001282225.2):c.1045G>A (p.(Val349Ile), p.V349I), ADA2(NM_001282226.1):c.1045G>A (p.V349I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000984081" "0" "10" "22" "17702674" "17702674" "del" "0" "02326" "CECR1_000050" "g.17702674del" "" "" "" "ADA2(NM_001282227.2):c.-105delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000987854" "3" "90" "22" "17663537" "17663537" "subst" "0" "00006" "CECR1_000051" "g.17663537C>T" "" "{DOI:Balažiová 2024:10.36290/vnl.2024.048}" "" "" "" "Germline" "" "" "0" "" "" "g.17182647C>T" "" "pathogenic (recessive)" ""
"0001005869" "0" "30" "22" "17662396" "17662396" "subst" "0" "01804" "CECR1_000052" "g.17662396T>A" "" "" "" "CECR1(NM_017424.2):c.1513A>T (p.(Ile505Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001005870" "0" "50" "22" "17662453" "17662455" "dup" "0" "01804" "CECR1_000053" "g.17662453_17662455dup" "" "" "" "CECR1(NM_001282225.1):c.1456_1458dupTTG (p.(Leu486dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001005871" "0" "50" "22" "17662772" "17662772" "subst" "0" "01804" "CECR1_000054" "g.17662772C>A" "" "" "" "CECR1(NM_017424.2):c.1380G>T (p.(Met460Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001005872" "0" "50" "22" "17662773" "17662773" "subst" "0" "01804" "CECR1_000055" "g.17662773A>T" "" "" "" "CECR1(NM_017424.2):c.1379T>A (p.(Met460Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001005873" "0" "30" "22" "17684517" "17684517" "subst" "0.000531993" "01804" "CECR1_000056" "g.17684517C>T" "" "" "" "CECR1(NM_017424.2):c.689G>A (p.(Arg230Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001043683" "0" "50" "22" "17670877" "17670877" "subst" "0.00174208" "02327" "CECR1_000010" "g.17670877C>T" "" "" "" "ADA2(NM_001282225.2):c.927G>A (p.M309I), ADA2(NM_001282226.1):c.927G>A (p.M309I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001043684" "0" "30" "22" "17687992" "17687992" "subst" "0.00115746" "01804" "CECR1_000057" "g.17687992G>A" "" "" "" "ADA2(NM_001282225.2):c.511C>T (p.(Arg171Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001043685" "0" "50" "22" "17690324" "17690324" "subst" "8.12196E-6" "01804" "CECR1_000058" "g.17690324G>A" "" "" "" "ADA2(NM_001282225.2):c.244C>T (p.(Pro82Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001043686" "0" "90" "22" "17690428" "17690428" "subst" "4.46737E-5" "01804" "CECR1_000016" "g.17690428C>A" "" "" "" "ADA2(NM_001282225.2):c.140G>T (p.(Gly47Val), p.G47V), ADA2(NM_001282226.1):c.140G>T (p.G47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001046802" "0" "70" "22" "17684453" "17684453" "subst" "2.44008E-5" "02326" "CECR1_000059" "g.17684453C>T" "" "" "" "ADA2(NM_001282225.2):c.753G>A (p.P251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## 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 CECR1
## Count = 88
"{{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}}"
"0000251053" "00004931" "10" "1359" "0" "1359" "0" "c.1359T>C" "r.(?)" "p.(Tyr453=)" ""
"0000251646" "00004931" "10" "1442" "11" "1442" "11" "c.1442+11T>C" "r.(=)" "p.(=)" ""
"0000251647" "00004931" "10" "1081" "87" "1081" "87" "c.1081+87T>C" "r.(=)" "p.(=)" ""
"0000268092" "00004931" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" ""
"0000269958" "00004931" "30" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Val349Ile)" ""
"0000269959" "00004931" "30" "1081" "11" "1081" "11" "c.1081+11G>A" "r.(=)" "p.(=)" ""
"0000269960" "00004931" "30" "1081" "18" "1081" "18" "c.1081+18G>A" "r.(=)" "p.(=)" ""
"0000269961" "00004931" "10" "1240" "-5" "1240" "-5" "c.1240-5C>G" "r.spl?" "p.?" ""
"0000269962" "00004931" "70" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Gly47Glu)" ""
"0000269963" "00004931" "90" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Gly47Val)" ""
"0000269964" "00004931" "70" "385" "0" "385" "0" "c.385A>C" "r.(?)" "p.(Thr129Pro)" ""
"0000269965" "00004931" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" ""
"0000269966" "00004931" "30" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Met309Ile)" ""
"0000269967" "00004931" "90" "973" "-2" "973" "-2" "c.973-2A>G" "r.spl?" "p.?" ""
"0000273084" "00004931" "30" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Val349Ile)" ""
"0000273085" "00004931" "50" "562" "0" "562" "0" "c.562C>G" "r.(?)" "p.(Leu188Val)" ""
"0000273086" "00004931" "30" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Met309Ile)" ""
"0000342054" "00004931" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" ""
"0000443613" "00004931" "90" "1334" "0" "1334" "0" "c.1334T>A" "r.(?)" "p.(Met445Lys)" ""
"0000443649" "00004931" "90" "1443" "-2" "1443" "-2" "c.1443-2A>T" "r.spl" "p.?" ""
"0000443684" "00004931" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Arg)" ""
"0000443686" "00004931" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Arg)" ""
"0000443687" "00004931" "90" "144" "0" "144" "0" "c.144del" "r.(?)" "p.(Arg49Glyfs*4)" ""
"0000443688" "00004931" "90" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Tyr456Cys)" ""
"0000443689" "00004931" "90" "1397" "0" "1403" "0" "c.1397_1403del" "r.(?)" "p.(Lys466Thrfs*2)" ""
"0000443690" "00004931" "90" "1397" "0" "1403" "0" "c.1397_1403del" "r.(?)" "p.(Lys466Thrfs*2)" ""
"0000443740" "00004931" "90" "1397" "0" "1403" "0" "c.1397_1403del" "r.(?)" "p.(Lys466Thrfs*2)" ""
"0000443775" "00004931" "90" "145" "0" "145" "0" "c.145del" "r.(?)" "p.(Arg49Glyfs*4)" ""
"0000571244" "00004931" "30" "1694" "0" "1695" "0" "c.*158_*159insA" "r.(=)" "p.(=)" ""
"0000571245" "00004931" "10" "1442" "11" "1442" "11" "c.1442+11T>C" "r.(=)" "p.(=)" ""
"0000571246" "00004931" "30" "1386" "0" "1386" "0" "c.1386T>C" "r.(?)" "p.(Ile462=)" ""
"0000571247" "00004931" "10" "1359" "0" "1359" "0" "c.1359T>C" "r.(?)" "p.(Tyr453=)" ""
"0000571248" "00004931" "10" "1240" "-5" "1240" "-5" "c.1240-5C>G" "r.spl?" "p.?" ""
"0000571249" "00004931" "30" "1081" "3" "1081" "3" "c.1081+3G>A" "r.spl?" "p.?" ""
"0000571250" "00004931" "10" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" ""
"0000571251" "00004931" "30" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Thr317Met)" ""
"0000571252" "00004931" "30" "882" "-11" "882" "-11" "c.882-11del" "r.(=)" "p.(=)" ""
"0000571253" "00004931" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" ""
"0000571254" "00004931" "10" "159" "0" "159" "0" "c.159=" "r.(=)" "p.(Asn53=)" ""
"0000571255" "00004931" "90" "158" "0" "158" "0" "c.158del" "r.(?)" "p.(Asn53IlefsTer12)" ""
"0000618445" "00004931" "30" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Lys170Glu)" ""
"0000658867" "00004931" "30" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Thr65Met)" ""
"0000658868" "00004931" "90" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Gly47Val)" ""
"0000681771" "00004931" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(Asp261=)" ""
"0000693096" "00004931" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" ""
"0000693097" "00004931" "90" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Gly47Val)" ""
"0000728021" "00004931" "90" "973" "-2" "973" "-2" "c.973-2A>G" "r.spl?" "p.?" ""
"0000728022" "00004931" "70" "973" "-2" "973" "-2" "c.973-2A>G" "r.spl?" "p.?" ""
"0000728023" "00004931" "50" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Tyr236Cys)" ""
"0000809464" "00004931" "50" "1252" "0" "1252" "0" "c.1252G>T" "r.(?)" "p.(Val418Leu)" ""
"0000809465" "00004931" "70" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Ala357Thr)" ""
"0000809466" "00004931" "50" "1055" "0" "1055" "0" "c.1055C>G" "r.(?)" "p.(Pro352Arg)" ""
"0000809467" "00004931" "30" "702" "0" "702" "0" "c.702G>A" "r.(?)" "p.(Glu234=)" ""
"0000809468" "00004931" "70" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Pro193Leu)" ""
"0000856052" "00004931" "50" "272" "0" "272" "0" "c.272A>G" "r.(?)" "p.(His91Arg)" ""
"0000866718" "00004931" "10" "159" "0" "159" "0" "c.159=" "r.(=)" "p.(Asn53=)" ""
"0000866719" "00004931" "90" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Gly47Val)" ""
"0000895570" "00004931" "10" "1442" "11" "1442" "11" "c.1442+11T>C" "r.(=)" "p.(=)" ""
"0000895571" "00004931" "10" "1359" "0" "1359" "0" "c.1359T>C" "r.(?)" "p.(Tyr453=)" ""
"0000895572" "00004931" "90" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Tyr453Cys)" ""
"0000895573" "00004931" "10" "1240" "-5" "1240" "-5" "c.1240-5C>G" "r.spl?" "p.?" ""
"0000895574" "00004931" "10" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" ""
"0000895575" "00004931" "10" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(His335Arg)" ""
"0000895576" "00004931" "30" "882" "-17" "882" "-17" "c.882-17C>T" "r.(=)" "p.(=)" ""
"0000895577" "00004931" "10" "138" "0" "138" "0" "c.138G>C" "r.(?)" "p.(=)" ""
"0000895578" "00004931" "10" "-9717" "0" "-9717" "0" "c.-9717G>A" "r.(?)" "p.(=)" ""
"0000915482" "00004931" "30" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Met121Thr)" ""
"0000915483" "00004931" "10" "159" "0" "159" "0" "c.159=" "r.(=)" "p.(Asn53=)" ""
"0000915484" "00004931" "90" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Arg)" ""
"0000931239" "00004931" "30" "1082" "-42" "1082" "-16" "c.1082-42_1082-16del" "r.(=)" "p.(=)" ""
"0000931240" "00004931" "30" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Thr317Met)" ""
"0000931241" "00004931" "90" "932" "0" "932" "0" "c.932T>G" "r.(?)" "p.(Leu311Arg)" ""
"0000931242" "00004931" "90" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Arg)" ""
"0000931243" "00004931" "30" "138" "0" "138" "0" "c.138G>C" "r.(?)" "p.(=)" ""
"0000951531" "00004931" "50" "229" "0" "229" "0" "c.229A>C" "r.(?)" "p.(Thr77Pro)" ""
"0000984080" "00004931" "30" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Val349Ile)" ""
"0000984081" "00004931" "10" "-12107" "0" "-12107" "0" "c.-12107del" "r.(?)" "p.(=)" ""
"0000987854" "00004931" "90" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Trp399*)" ""
"0001005869" "00004931" "30" "1513" "0" "1513" "0" "c.1513A>T" "r.(?)" "p.(Ile505Leu)" ""
"0001005870" "00004931" "50" "1456" "0" "1458" "0" "c.1456_1458dup" "r.(?)" "p.(Leu486dup)" ""
"0001005871" "00004931" "50" "1380" "0" "1380" "0" "c.1380G>T" "r.(?)" "p.(Met460Ile)" ""
"0001005872" "00004931" "50" "1379" "0" "1379" "0" "c.1379T>A" "r.(?)" "p.(Met460Lys)" ""
"0001005873" "00004931" "30" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230Gln)" ""
"0001043683" "00004931" "50" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Met309Ile)" ""
"0001043684" "00004931" "30" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" ""
"0001043685" "00004931" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Pro82Ser)" ""
"0001043686" "00004931" "90" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Gly47Val)" ""
"0001046802" "00004931" "70" "753" "0" "753" "0" "c.753G>A" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}" "{{variantid}}"
"0000211978" "0000443613"
"0000212008" "0000443649"
"0000212043" "0000443684"
"0000212045" "0000443686"
"0000212046" "0000443687"
"0000212046" "0000443688"
"0000212047" "0000443689"
"0000212048" "0000443690"
"0000212097" "0000443740"
"0000212132" "0000443775"
"0000453273" "0000987854"