### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HEATR2)
# 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}}"
"HEATR2" "HEAT repeat containing 2" "7" "p22.3" "unknown" "NC_000007.13" "UD_132437224115" "" "http://www.LOVD.nl/DNAAF5" "" "1" "26013" "54919" "614864" "1" "1" "1" "1" "Alias HEATR2.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from HEATR2 to DNAAF5" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-02-09 17:44:41" "00000" "2025-11-01 13:22:20"
## 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}}"
"00009234" "HEATR2" "HEAT repeat containing 2" "001" "NM_017802.3" "" "NP_060272.3" "" "" "" "-20" "3394" "2568" "766338" "826116" "" "0000-00-00 00:00:00" "" ""
## 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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20"
"03767" "CILD18" "dyskinesia, ciliary, primary, 18 (CILD-18)" "AR" "614874" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"HEATR2" "00332"
"HEATR2" "03767"
## Individuals ## Do not remove or alter this header ##
## Count = 6
"{{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}}"
"00003298" "" "" "" "1" "" "00552" "" "" "" "" "" "" "0" "" "" "" ""
"00294501" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00305169" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00462356" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" ""
"00462357" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" ""
"00462358" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00294501" "00198"
"00305169" "00198"
"00462356" "00332"
"00462357" "00332"
"00462358" "00332"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00332, 03767
## Count = 3
"{{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}}"
"0000349855" "00332" "00462356" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" ""
"0000349856" "00332" "00462357" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" ""
"0000349857" "00332" "00462358" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" ""
## Screenings ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000003218" "00003298" "1" "00552" "00552" "2013-11-05 19:26:29" "" "" "SEQ-NG-I" "DNA" "" ""
"0000295669" "00294501" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306298" "00305169" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000463988" "00462356" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD"
"0000463989" "00462357" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD"
"0000463990" "00462358" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000003218" "HEATR2"
## 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 = 94
"{{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}}"
"0000021765" "3" "75" "7" "825153" "825153" "subst" "0" "00552" "HEATR2_000001" "g.825153G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.785516G>C" "" "likely pathogenic" ""
"0000249904" "0" "10" "7" "618938" "618938" "subst" "0.369751" "02329" "PRKAR1B_000011" "g.618938A>G" "" "" "" "PRKAR1B(NM_001164761.1):c.846T>C (p.I282=), PRKAR1B(NM_001164762.2):c.846T>C (p.I282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.579301A>G" "" "benign" ""
"0000250293" "0" "30" "7" "590124" "590124" "subst" "3.22035E-5" "02329" "PRKAR1B_000001" "g.590124A>G" "" "" "" "PRKAR1B(NM_001164761.2):c.1089T>C (p.S363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.550487A>G" "" "likely benign" ""
"0000250441" "0" "30" "7" "635777" "635777" "subst" "0.00156211" "02329" "PRKAR1B_000013" "g.635777A>G" "" "" "" "PRKAR1B(NM_001164761.1):c.708+6T>C, PRKAR1B(NM_001164761.2):c.708+6T>C, PRKAR1B(NM_001164762.2):c.708+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.596140A>G" "" "likely benign" ""
"0000253128" "0" "10" "7" "618938" "618938" "subst" "0.369751" "01943" "PRKAR1B_000011" "g.618938A>G" "" "" "" "PRKAR1B(NM_001164761.1):c.846T>C (p.I282=), PRKAR1B(NM_001164762.2):c.846T>C (p.I282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.579301A>G" "" "benign" ""
"0000267441" "0" "10" "7" "780980" "780980" "subst" "0.803202" "02325" "HEATR2_000002" "g.780980T>G" "" "" "" "DNAAF5(NM_017802.4):c.906-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.741343T>G" "" "benign" ""
"0000299081" "0" "30" "7" "590205" "590205" "subst" "0.00162551" "02329" "PRKAR1B_000005" "g.590205C>T" "" "" "" "PRKAR1B(NM_001164761.2):c.1008G>A (p.A336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.550568C>T" "" "likely benign" ""
"0000299082" "0" "30" "7" "590195" "590195" "subst" "0.000305199" "02329" "PRKAR1B_000004" "g.590195C>T" "" "" "" "PRKAR1B(NM_001164760.1):c.1018G>A (p.(Val340Met)), PRKAR1B(NM_001164761.2):c.1018G>A (p.V340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.550558C>T" "" "likely benign" ""
"0000299083" "0" "30" "7" "590184" "590184" "subst" "4.40972E-5" "02329" "PRKAR1B_000003" "g.590184C>A" "" "" "" "PRKAR1B(NM_001164761.2):c.1029G>T (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.550547C>A" "" "likely benign" ""
"0000299084" "0" "10" "7" "590148" "590148" "subst" "0.018881" "02329" "PRKAR1B_000002" "g.590148G>A" "" "" "" "PRKAR1B(NM_001164761.1):c.1065C>T (p.F355=), PRKAR1B(NM_001164761.2):c.1065C>T (p.F355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.550511G>A" "" "benign" ""
"0000299085" "0" "30" "7" "751026" "751026" "subst" "0" "02329" "PRKAR1B_000019" "g.751026G>A" "" "" "" "PRKAR1B(NM_001164761.2):c.117C>T (p.C39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.711389G>A" "" "likely benign" ""
"0000299086" "0" "30" "7" "751025" "751025" "subst" "0.00679407" "02329" "PRKAR1B_000018" "g.751025T>C" "" "" "" "PRKAR1B(NM_001164761.2):c.118A>G (p.I40V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.711388T>C" "" "likely benign" ""
"0000299087" "0" "30" "7" "750978" "750978" "subst" "1.21914E-5" "02329" "PRKAR1B_000017" "g.750978C>T" "" "" "" "PRKAR1B(NM_001164761.2):c.165G>A (p.E55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.711341C>T" "" "likely benign" ""
"0000299088" "0" "30" "7" "720366" "720366" "subst" "0.00159024" "02329" "PRKAR1B_000016" "g.720366G>A" "" "" "" "PRKAR1B(NM_001164761.2):c.178-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.680729G>A" "" "likely benign" ""
"0000299089" "0" "50" "7" "720299" "720299" "subst" "0" "02329" "PRKAR1B_000015" "g.720299T>A" "" "" "" "PRKAR1B(NM_001164761.2):c.242A>T (p.E81V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.680662T>A" "" "VUS" ""
"0000299090" "0" "30" "7" "635849" "635849" "subst" "0.00160518" "02329" "PRKAR1B_000014" "g.635849G>A" "" "" "" "PRKAR1B(NM_001164761.1):c.642C>T (p.T214=), PRKAR1B(NM_001164761.2):c.642C>T (p.T214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.596212G>A" "" "likely benign" ""
"0000299091" "0" "10" "7" "624221" "624221" "subst" "0.677109" "02329" "PRKAR1B_000012" "g.624221T>G" "" "" "" "PRKAR1B(NM_001164761.1):c.709-16A>C, PRKAR1B(NM_001164761.2):c.709-16A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.584584T>G" "" "benign" ""
"0000299092" "0" "10" "7" "591125" "591125" "subst" "0.536312" "02329" "PRKAR1B_000009" "g.591125C>G" "" "" "" "PRKAR1B(NM_001164761.1):c.892-18G>C, PRKAR1B(NM_001164761.2):c.892-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.551488C>G" "" "benign" ""
"0000299093" "0" "30" "7" "591066" "591066" "subst" "0.0026234" "02329" "PRKAR1B_000008" "g.591066C>T" "" "" "" "PRKAR1B(NM_001164761.2):c.933G>A (p.E311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.551429C>T" "" "likely benign" ""
"0000299094" "0" "10" "7" "590247" "590247" "subst" "0.0214768" "02329" "PRKAR1B_000007" "g.590247T>G" "" "" "" "PRKAR1B(NM_001164761.1):c.974-8A>C, PRKAR1B(NM_001164762.2):c.974-8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.550610T>G" "" "benign" ""
"0000299095" "0" "10" "7" "590229" "590229" "subst" "0.0208704" "02329" "PRKAR1B_000006" "g.590229T>C" "" "" "" "PRKAR1B(NM_001164761.1):c.984A>G (p.A328=), PRKAR1B(NM_001164761.2):c.984A>G (p.A328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.550592T>C" "" "benign" ""
"0000306377" "0" "10" "7" "590148" "590148" "subst" "0.018881" "01943" "PRKAR1B_000002" "g.590148G>A" "" "" "" "PRKAR1B(NM_001164761.1):c.1065C>T (p.F355=), PRKAR1B(NM_001164761.2):c.1065C>T (p.F355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.550511G>A" "" "benign" ""
"0000306378" "0" "10" "7" "624221" "624221" "subst" "0.677109" "01943" "PRKAR1B_000012" "g.624221T>G" "" "" "" "PRKAR1B(NM_001164761.1):c.709-16A>C, PRKAR1B(NM_001164761.2):c.709-16A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.584584T>G" "" "benign" ""
"0000306379" "0" "10" "7" "618869" "618869" "subst" "0.365354" "01943" "PRKAR1B_000010" "g.618869G>A" "" "" "" "PRKAR1B(NM_001164761.1):c.891+24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.579232G>A" "" "benign" ""
"0000306380" "0" "10" "7" "591125" "591125" "subst" "0.536312" "01943" "PRKAR1B_000009" "g.591125C>G" "" "" "" "PRKAR1B(NM_001164761.1):c.892-18G>C, PRKAR1B(NM_001164761.2):c.892-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.551488C>G" "" "benign" ""
"0000306381" "0" "10" "7" "590247" "590247" "subst" "0.0214768" "01943" "PRKAR1B_000007" "g.590247T>G" "" "" "" "PRKAR1B(NM_001164761.1):c.974-8A>C, PRKAR1B(NM_001164762.2):c.974-8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.550610T>G" "" "benign" ""
"0000306382" "0" "10" "7" "590229" "590229" "subst" "0.0208704" "01943" "PRKAR1B_000006" "g.590229T>C" "" "" "" "PRKAR1B(NM_001164761.1):c.984A>G (p.A328=), PRKAR1B(NM_001164761.2):c.984A>G (p.A328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.550592T>C" "" "benign" ""
"0000532320" "0" "10" "7" "590199" "590199" "subst" "0.131101" "01943" "HEATR2_000003" "g.590199A>G" "" "" "" "PRKAR1B(NM_001164761.1):c.1014T>C (p.T338=), PRKAR1B(NM_001164761.2):c.1014T>C (p.T338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.550562A>G" "" "benign" ""
"0000532321" "0" "10" "7" "590199" "590199" "subst" "0.131101" "02329" "HEATR2_000003" "g.590199A>G" "" "" "" "PRKAR1B(NM_001164761.1):c.1014T>C (p.T338=), PRKAR1B(NM_001164761.2):c.1014T>C (p.T338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.550562A>G" "" "benign" ""
"0000532322" "0" "30" "7" "591010" "591010" "subst" "0.000188233" "02329" "HEATR2_000004" "g.591010C>T" "" "" "" "PRKAR1B(NM_001164761.2):c.973+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.551373C>T" "" "likely benign" ""
"0000532323" "0" "30" "7" "591063" "591063" "subst" "0.000887152" "02329" "HEATR2_000005" "g.591063G>A" "" "" "" "PRKAR1B(NM_001164761.2):c.936C>T (p.Y312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.551426G>A" "" "likely benign" ""
"0000532421" "0" "30" "7" "618974" "618974" "subst" "0.00274618" "01943" "HEATR2_000006" "g.618974C>T" "" "" "" "PRKAR1B(NM_001164761.1):c.810G>A (p.A270=), PRKAR1B(NM_001164761.2):c.810G>A (p.A270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.579337C>T" "" "likely benign" ""
"0000532423" "0" "30" "7" "624220" "624220" "dup" "0" "02329" "HEATR2_000007" "g.624220dup" "" "" "" "PRKAR1B(NM_001164761.2):c.709-15dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.584583dup" "" "likely benign" ""
"0000532424" "0" "30" "7" "624221" "624221" "subst" "4.53968E-5" "02329" "HEATR2_000008" "g.624221T>A" "" "" "" "PRKAR1B(NM_001164761.2):c.709-16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.584584T>A" "" "likely benign" ""
"0000532426" "0" "30" "7" "635777" "635777" "subst" "0.00156211" "01943" "PRKAR1B_000013" "g.635777A>G" "" "" "" "PRKAR1B(NM_001164761.1):c.708+6T>C, PRKAR1B(NM_001164761.2):c.708+6T>C, PRKAR1B(NM_001164762.2):c.708+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.596140A>G" "" "likely benign" ""
"0000532427" "0" "30" "7" "635849" "635849" "subst" "0.00160518" "01943" "PRKAR1B_000014" "g.635849G>A" "" "" "" "PRKAR1B(NM_001164761.1):c.642C>T (p.T214=), PRKAR1B(NM_001164761.2):c.642C>T (p.T214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.596212G>A" "" "likely benign" ""
"0000532682" "0" "30" "7" "766481" "766481" "subst" "0" "01804" "HEATR2_000009" "g.766481A>G" "" "" "" "HEATR2(NM_017802.3):c.124A>G (p.(Ser42Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.726844A>G" "" "likely benign" ""
"0000532696" "0" "30" "7" "781078" "781078" "subst" "0" "01804" "HEATR2_000010" "g.781078A>C" "" "" "" "DNAAF5(NM_017802.3):c.1000A>C (p.T334P), HEATR2(NM_017802.3):c.1000A>C (p.(Thr334Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.741441A>C" "" "likely benign" ""
"0000532701" "0" "10" "7" "794471" "794471" "subst" "0.820269" "02325" "HEATR2_000011" "g.794471A>G" "" "" "" "DNAAF5(NM_017802.4):c.1257+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.754834A>G" "" "benign" ""
"0000532702" "0" "10" "7" "796430" "796430" "subst" "0.162887" "02325" "HEATR2_000012" "g.796430C>T" "" "" "" "DNAAF5(NM_017802.4):c.1269C>T (p.S423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.756793C>T" "" "benign" ""
"0000532703" "0" "30" "7" "796593" "796593" "subst" "0.00100707" "01943" "HEATR2_000013" "g.796593G>A" "" "" "" "DNAAF5(NM_017802.3):c.1432G>A (p.E478K), HEATR2(NM_017802.3):c.1432G>A (p.(Glu478Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.756956G>A" "" "likely benign" ""
"0000532704" "0" "30" "7" "796593" "796593" "subst" "0.00100707" "01804" "HEATR2_000013" "g.796593G>A" "" "" "" "DNAAF5(NM_017802.3):c.1432G>A (p.E478K), HEATR2(NM_017802.3):c.1432G>A (p.(Glu478Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.756956G>A" "" "likely benign" ""
"0000532714" "0" "50" "7" "810110" "810110" "subst" "4.10775E-6" "01804" "HEATR2_000014" "g.810110C>T" "" "" "" "HEATR2(NM_017802.3):c.1786C>T (p.(Pro596Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.770473C>T" "" "VUS" ""
"0000611206" "0" "30" "7" "781069" "781070" "ins" "0" "01804" "HEATR2_000018" "g.781069_781070insGG" "" "" "" "HEATR2(NM_017802.3):c.990_991insGG (p.(Ala331GlyfsTer48))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.741432_741433insGG" "" "likely benign" ""
"0000621911" "0" "30" "7" "618965" "618965" "subst" "0.000373665" "02329" "HEATR2_000015" "g.618965G>A" "" "" "" "PRKAR1B(NM_001164761.2):c.819C>T (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.579328G>A" "" "likely benign" ""
"0000621912" "0" "30" "7" "618974" "618974" "subst" "0.00274618" "02329" "HEATR2_000006" "g.618974C>T" "" "" "" "PRKAR1B(NM_001164761.1):c.810G>A (p.A270=), PRKAR1B(NM_001164761.2):c.810G>A (p.A270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.579337C>T" "" "likely benign" ""
"0000621913" "0" "30" "7" "624211" "624211" "subst" "0.000372182" "02329" "HEATR2_000016" "g.624211C>T" "" "" "" "PRKAR1B(NM_001164761.2):c.709-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.584574C>T" "" "likely benign" ""
"0000621922" "0" "50" "7" "750994" "750994" "subst" "0" "01943" "HEATR2_000017" "g.750994A>C" "" "" "" "PRKAR1B(NM_001164761.1):c.149T>G (p.L50R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.711357A>C" "" "VUS" ""
"0000621925" "0" "50" "7" "794448" "794448" "subst" "3.82244E-5" "01943" "HEATR2_000019" "g.794448T>C" "" "" "" "DNAAF5(NM_017802.3):c.1247T>C (p.V416A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.754811T>C" "" "VUS" ""
"0000652358" "1" "10" "7" "780999" "780999" "subst" "0.0118904" "03575" "HEATR2_000020" "g.780999C>A" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous; {DB:CLININrs113374052}" "Germline" "" "rs113374052" "0" "" "" "g.741362C>A" "" "benign" ""
"0000655865" "0" "10" "7" "635834" "635834" "subst" "0.00078642" "02329" "HEATR2_000021" "g.635834C>T" "" "" "" "PRKAR1B(NM_001164761.2):c.657G>A (p.T219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.596197C>T" "" "benign" ""
"0000655891" "0" "30" "7" "819747" "819747" "subst" "4.47078E-5" "01943" "HEATR2_000022" "g.819747C>T" "" "" "" "DNAAF5(NM_017802.3):c.2397C>T (p.D799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.780110C>T" "" "likely benign" ""
"0000669986" "3" "10" "7" "780999" "780999" "subst" "0.0118904" "03575" "HEATR2_000020" "g.780999C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs113374052}" "Germline" "" "rs113374052" "0" "" "" "g.741362C>A" "" "benign" ""
"0000678138" "0" "10" "7" "591096" "591096" "subst" "0.0037445" "01943" "HEATR2_000023" "g.591096G>A" "" "" "" "PRKAR1B(NM_001164761.1):c.903C>T (p.S301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000678178" "0" "50" "7" "766742" "766742" "subst" "0" "01804" "HEATR2_000024" "g.766742G>C" "" "" "" "HEATR2(NM_017802.3):c.385G>C (p.(Val129Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000690049" "0" "30" "7" "645866" "645866" "subst" "0.000780209" "01943" "HEATR2_000025" "g.645866T>G" "" "" "" "PRKAR1B(NM_001164761.1):c.513A>C (p.G171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690068" "0" "30" "7" "751128" "751128" "subst" "1.22135E-5" "01943" "HEATR2_000026" "g.751128G>A" "" "" "" "PRKAR1B(NM_001164761.1):c.15C>T (p.P5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690080" "0" "50" "7" "819719" "819719" "subst" "0" "02325" "HEATR2_000027" "g.819719T>C" "" "" "" "DNAAF5(NM_017802.4):c.2369T>C (p.L790P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721503" "0" "30" "7" "591102" "591102" "subst" "0.000776681" "02329" "HEATR2_000028" "g.591102G>A" "" "" "" "PRKAR1B(NM_001164761.2):c.897C>T (p.T299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721555" "0" "30" "7" "781074" "781074" "subst" "0.000461443" "01943" "HEATR2_000029" "g.781074T>C" "" "" "" "DNAAF5(NM_017802.3):c.996T>C (p.P332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721556" "0" "30" "7" "781078" "781078" "subst" "0" "01943" "HEATR2_000010" "g.781078A>C" "" "" "" "DNAAF5(NM_017802.3):c.1000A>C (p.T334P), HEATR2(NM_017802.3):c.1000A>C (p.(Thr334Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721557" "0" "30" "7" "781083" "781083" "subst" "0" "01943" "HEATR2_000030" "g.781083A>C" "" "" "" "DNAAF5(NM_017802.3):c.1005A>C (p.P335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803231" "0" "50" "7" "720261" "720261" "subst" "8.59894E-5" "01943" "HEATR2_000031" "g.720261G>A" "" "" "" "PRKAR1B(NM_001164760.2):c.280C>T (p.(Arg94Cys)), PRKAR1B(NM_001164761.1):c.280C>T (p.R94C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803253" "0" "50" "7" "780456" "780456" "subst" "0.000626454" "01943" "HEATR2_000032" "g.780456G>A" "" "" "" "DNAAF5(NM_017802.3):c.781G>A (p.V261I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803254" "0" "30" "7" "794409" "794409" "subst" "0.000307334" "01943" "HEATR2_000033" "g.794409G>A" "" "" "" "DNAAF5(NM_017802.3):c.1208G>A (p.R403Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860900" "0" "30" "7" "751029" "751029" "subst" "0" "01943" "HEATR2_000034" "g.751029G>C" "" "" "" "PRKAR1B(NM_001164761.1):c.114C>G (p.L38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860901" "0" "50" "7" "751166" "751166" "subst" "0" "01943" "HEATR2_000035" "g.751166T>C" "" "" "" "PRKAR1B(NM_001164761.1):c.-22-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000887963" "0" "30" "7" "720290" "720290" "subst" "0.000196056" "02325" "HEATR2_000036" "g.720290G>A" "" "" "" "PRKAR1B(NM_001164761.2):c.251C>T (p.P84L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887979" "0" "50" "7" "769437" "769437" "subst" "1.2189E-5" "02325" "HEATR2_000037" "g.769437G>A" "" "" "" "DNAAF5(NM_017802.4):c.733G>A (p.D245N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000964621" "0" "50" "7" "590198" "590198" "subst" "2.64971E-5" "02325" "HEATR2_000038" "g.590198C>T" "" "" "" "PRKAR1B(NM_001164761.2):c.1015G>A (p.V339I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977798" "0" "30" "7" "635796" "635796" "subst" "0.000167839" "01804" "HEATR2_000039" "g.635796C>T" "" "" "" "PRKAR1B(NM_001164760.2):c.695G>A (p.(Arg232Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977849" "0" "30" "7" "749026" "749027" "del" "0" "01804" "HEATR2_000040" "g.749026_749027del" "" "" "" "PRKAR1B(NM_001164760.2):c.177+1956_177+1957del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977857" "0" "50" "7" "766779" "766779" "subst" "0" "01804" "HEATR2_000041" "g.766779T>G" "" "" "" "DNAAF5(NM_017802.4):c.422T>G (p.(Leu141Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977858" "0" "30" "7" "766907" "766907" "subst" "0.000619579" "01804" "HEATR2_000042" "g.766907C>A" "" "" "" "DNAAF5(NM_017802.4):c.550C>A (p.(Arg184Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977859" "0" "50" "7" "780513" "780513" "subst" "0" "01804" "HEATR2_000043" "g.780513T>C" "" "" "" "DNAAF5(NM_017802.4):c.838T>C (p.(Tyr280His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977860" "0" "50" "7" "794456" "794456" "subst" "4.28533E-6" "01804" "HEATR2_000044" "g.794456A>G" "" "" "" "DNAAF5(NM_017802.4):c.1255A>G (p.(Ser419Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000977861" "0" "30" "7" "796607" "796607" "subst" "0.000478915" "01804" "HEATR2_000045" "g.796607C>G" "" "" "" "DNAAF5(NM_017802.4):c.1446C>G (p.(Ala482=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000977864" "0" "30" "7" "803606" "803606" "subst" "0" "01804" "HEATR2_000046" "g.803606A>G" "" "" "" "DNAAF5(NM_017802.4):c.1778A>G (p.(Gln593Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996589" "0" "50" "7" "590195" "590195" "subst" "0.000305199" "01804" "PRKAR1B_000004" "g.590195C>T" "" "" "" "PRKAR1B(NM_001164760.1):c.1018G>A (p.(Val340Met)), PRKAR1B(NM_001164761.2):c.1018G>A (p.V340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000996622" "0" "30" "7" "647061" "647061" "subst" "0" "01804" "HEATR2_000047" "g.647061T>C" "" "" "" "PRKAR1B(NM_001164760.1):c.469A>G (p.(Thr157Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996628" "0" "30" "7" "716891" "716891" "subst" "2.8425E-5" "01804" "HEATR2_000048" "g.716891C>T" "" "" "" "PRKAR1B(NM_001164760.1):c.415G>A (p.(Ala139Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996629" "0" "30" "7" "720282" "720282" "subst" "3.69316E-5" "01804" "HEATR2_000049" "g.720282G>C" "" "" "" "PRKAR1B(NM_001164760.1):c.259C>G (p.(Pro87Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996630" "0" "30" "7" "720308" "720308" "subst" "2.44541E-5" "01804" "HEATR2_000050" "g.720308T>C" "" "" "" "PRKAR1B(NM_001164760.1):c.233A>G (p.(His78Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001027632" "0" "30" "7" "780463" "780463" "subst" "0.000126055" "00006" "HEATR2_000051" "g.780463G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs201059622" "0" "" "" "g.740826G>A" "" "likely benign" ""
"0001027633" "0" "30" "7" "794332" "794332" "subst" "2.03168E-5" "00006" "HEATR2_000052" "g.794332G>T" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs151119269" "0" "" "" "g.754695G>T" "" "likely benign" ""
"0001027634" "0" "50" "7" "796453" "796453" "subst" "0" "00006" "HEATR2_000053" "g.796453T>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.756816T>C" "" "VUS" ""
"0001036486" "0" "30" "7" "677329" "677329" "subst" "0" "01804" "HEATR2_000054" "g.677329G>A" "" "" "" "PRKAR1B(NM_001164760.2):c.441-30240C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001036534" "0" "30" "7" "760025" "760025" "subst" "0" "01804" "HEATR2_000055" "g.760025T>A" "" "" "" "PRKAR1B(NM_001164760.2):c.-23+6822A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001036536" "0" "50" "7" "794212" "794223" "del" "0" "01804" "HEATR2_000056" "g.794212_794223del" "" "" "" "DNAAF5(NM_017802.4):c.1025-14_1025-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001036537" "0" "30" "7" "794216" "794216" "subst" "0" "01804" "HEATR2_000057" "g.794216T>G" "" "" "" "DNAAF5(NM_017802.4):c.1025-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001036541" "0" "50" "7" "803570" "803570" "subst" "4.13726E-6" "02327" "HEATR2_000058" "g.803570C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001052558" "0" "50" "7" "590177" "590177" "subst" "0" "01804" "HEATR2_000059" "g.590177T>C" "" "" "" "PRKAR1B(NM_001164760.2):c.1036A>G (p.(Lys346Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001052559" "0" "50" "7" "618916" "618916" "subst" "0" "01804" "HEATR2_000060" "g.618916C>T" "" "" "" "PRKAR1B(NM_001164760.2):c.868G>A (p.(Asp290Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001052560" "0" "30" "7" "720261" "720261" "subst" "8.59894E-5" "01804" "HEATR2_000031" "g.720261G>A" "" "" "" "PRKAR1B(NM_001164760.2):c.280C>T (p.(Arg94Cys)), PRKAR1B(NM_001164761.1):c.280C>T (p.R94C)" "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 HEATR2
## Count = 94
"{{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}}"
"0000021765" "00009234" "75" "2432" "-1" "2432" "-1" "c.2432-1G>C" "r.spl?" "p.?" "12i"
"0000249904" "00009234" "10" "-147420" "0" "-147420" "0" "c.-147420A>G" "r.(?)" "p.(=)" ""
"0000250293" "00009234" "30" "-176234" "0" "-176234" "0" "c.-176234A>G" "r.(?)" "p.(=)" ""
"0000250441" "00009234" "30" "-130581" "0" "-130581" "0" "c.-130581A>G" "r.(?)" "p.(=)" ""
"0000253128" "00009234" "10" "-147420" "0" "-147420" "0" "c.-147420A>G" "r.(?)" "p.(=)" ""
"0000267441" "00009234" "10" "906" "-4" "906" "-4" "c.906-4T>G" "r.spl?" "p.?" ""
"0000299081" "00009234" "30" "-176153" "0" "-176153" "0" "c.-176153C>T" "r.(?)" "p.(=)" ""
"0000299082" "00009234" "30" "-176163" "0" "-176163" "0" "c.-176163C>T" "r.(?)" "p.(=)" ""
"0000299083" "00009234" "30" "-176174" "0" "-176174" "0" "c.-176174C>A" "r.(?)" "p.(=)" ""
"0000299084" "00009234" "10" "-176210" "0" "-176210" "0" "c.-176210G>A" "r.(?)" "p.(=)" ""
"0000299085" "00009234" "30" "-15332" "0" "-15332" "0" "c.-15332G>A" "r.(?)" "p.(=)" ""
"0000299086" "00009234" "30" "-15333" "0" "-15333" "0" "c.-15333T>C" "r.(?)" "p.(=)" ""
"0000299087" "00009234" "30" "-15380" "0" "-15380" "0" "c.-15380C>T" "r.(?)" "p.(=)" ""
"0000299088" "00009234" "30" "-45992" "0" "-45992" "0" "c.-45992G>A" "r.(?)" "p.(=)" ""
"0000299089" "00009234" "50" "-46059" "0" "-46059" "0" "c.-46059T>A" "r.(?)" "p.(=)" ""
"0000299090" "00009234" "30" "-130509" "0" "-130509" "0" "c.-130509G>A" "r.(?)" "p.(=)" ""
"0000299091" "00009234" "10" "-142137" "0" "-142137" "0" "c.-142137T>G" "r.(?)" "p.(=)" ""
"0000299092" "00009234" "10" "-175233" "0" "-175233" "0" "c.-175233C>G" "r.(?)" "p.(=)" ""
"0000299093" "00009234" "30" "-175292" "0" "-175292" "0" "c.-175292C>T" "r.(?)" "p.(=)" ""
"0000299094" "00009234" "10" "-176111" "0" "-176111" "0" "c.-176111T>G" "r.(?)" "p.(=)" ""
"0000299095" "00009234" "10" "-176129" "0" "-176129" "0" "c.-176129T>C" "r.(?)" "p.(=)" ""
"0000306377" "00009234" "10" "-176210" "0" "-176210" "0" "c.-176210G>A" "r.(?)" "p.(=)" ""
"0000306378" "00009234" "10" "-142137" "0" "-142137" "0" "c.-142137T>G" "r.(?)" "p.(=)" ""
"0000306379" "00009234" "10" "-147489" "0" "-147489" "0" "c.-147489G>A" "r.(?)" "p.(=)" ""
"0000306380" "00009234" "10" "-175233" "0" "-175233" "0" "c.-175233C>G" "r.(?)" "p.(=)" ""
"0000306381" "00009234" "10" "-176111" "0" "-176111" "0" "c.-176111T>G" "r.(?)" "p.(=)" ""
"0000306382" "00009234" "10" "-176129" "0" "-176129" "0" "c.-176129T>C" "r.(?)" "p.(=)" ""
"0000532320" "00009234" "10" "-176159" "0" "-176159" "0" "c.-176159A>G" "r.(?)" "p.(=)" ""
"0000532321" "00009234" "10" "-176159" "0" "-176159" "0" "c.-176159A>G" "r.(?)" "p.(=)" ""
"0000532322" "00009234" "30" "-175348" "0" "-175348" "0" "c.-175348C>T" "r.(?)" "p.(=)" ""
"0000532323" "00009234" "30" "-175295" "0" "-175295" "0" "c.-175295G>A" "r.(?)" "p.(=)" ""
"0000532421" "00009234" "30" "-147384" "0" "-147384" "0" "c.-147384C>T" "r.(?)" "p.(=)" ""
"0000532423" "00009234" "30" "-142138" "0" "-142138" "0" "c.-142138dup" "r.(?)" "p.(=)" ""
"0000532424" "00009234" "30" "-142137" "0" "-142137" "0" "c.-142137T>A" "r.(?)" "p.(=)" ""
"0000532426" "00009234" "30" "-130581" "0" "-130581" "0" "c.-130581A>G" "r.(?)" "p.(=)" ""
"0000532427" "00009234" "30" "-130509" "0" "-130509" "0" "c.-130509G>A" "r.(?)" "p.(=)" ""
"0000532682" "00009234" "30" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Ser42Gly)" ""
"0000532696" "00009234" "30" "1000" "0" "1000" "0" "c.1000A>C" "r.(?)" "p.(Thr334Pro)" ""
"0000532701" "00009234" "10" "1257" "13" "1257" "13" "c.1257+13A>G" "r.(=)" "p.(=)" ""
"0000532702" "00009234" "10" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Ser423=)" ""
"0000532703" "00009234" "30" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Glu478Lys)" ""
"0000532704" "00009234" "30" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Glu478Lys)" ""
"0000532714" "00009234" "50" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Pro596Ser)" ""
"0000611206" "00009234" "30" "991" "0" "992" "0" "c.991_992insGG" "r.(?)" "p.(Ala331GlyfsTer48)" ""
"0000621911" "00009234" "30" "-147393" "0" "-147393" "0" "c.-147393G>A" "r.(?)" "p.(=)" ""
"0000621912" "00009234" "30" "-147384" "0" "-147384" "0" "c.-147384C>T" "r.(?)" "p.(=)" ""
"0000621913" "00009234" "30" "-142147" "0" "-142147" "0" "c.-142147C>T" "r.(?)" "p.(=)" ""
"0000621922" "00009234" "50" "-15364" "0" "-15364" "0" "c.-15364A>C" "r.(?)" "p.(=)" ""
"0000621925" "00009234" "50" "1247" "0" "1247" "0" "c.1247T>C" "r.(?)" "p.(Val416Ala)" ""
"0000652358" "00009234" "10" "921" "0" "921" "0" "c.921C>A" "r.(?)" "p.(Ser307Arg)" ""
"0000655865" "00009234" "10" "-130524" "0" "-130524" "0" "c.-130524C>T" "r.(?)" "p.(=)" ""
"0000655891" "00009234" "30" "2397" "0" "2397" "0" "c.2397C>T" "r.(?)" "p.(Asp799=)" ""
"0000669986" "00009234" "10" "921" "0" "921" "0" "c.921C>A" "r.(?)" "p.(Ser307Arg)" ""
"0000678138" "00009234" "10" "-175262" "0" "-175262" "0" "c.-175262G>A" "r.(?)" "p.(=)" ""
"0000678178" "00009234" "50" "385" "0" "385" "0" "c.385G>C" "r.(?)" "p.(Val129Leu)" ""
"0000690049" "00009234" "30" "-120492" "0" "-120492" "0" "c.-120492T>G" "r.(?)" "p.(=)" ""
"0000690068" "00009234" "30" "-15230" "0" "-15230" "0" "c.-15230G>A" "r.(?)" "p.(=)" ""
"0000690080" "00009234" "50" "2369" "0" "2369" "0" "c.2369T>C" "r.(?)" "p.(Leu790Pro)" ""
"0000721503" "00009234" "30" "-175256" "0" "-175256" "0" "c.-175256G>A" "r.(?)" "p.(=)" ""
"0000721555" "00009234" "30" "996" "0" "996" "0" "c.996T>C" "r.(?)" "p.(Pro332=)" ""
"0000721556" "00009234" "30" "1000" "0" "1000" "0" "c.1000A>C" "r.(?)" "p.(Thr334Pro)" ""
"0000721557" "00009234" "30" "1005" "0" "1005" "0" "c.1005A>C" "r.(?)" "p.(Pro335=)" ""
"0000803231" "00009234" "50" "-46097" "0" "-46097" "0" "c.-46097G>A" "r.(?)" "p.(=)" ""
"0000803253" "00009234" "50" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Val261Ile)" ""
"0000803254" "00009234" "30" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Arg403Gln)" ""
"0000860900" "00009234" "30" "-15329" "0" "-15329" "0" "c.-15329G>C" "r.(?)" "p.(=)" ""
"0000860901" "00009234" "50" "-15192" "0" "-15192" "0" "c.-15192T>C" "r.(?)" "p.(=)" ""
"0000887963" "00009234" "30" "-46068" "0" "-46068" "0" "c.-46068G>A" "r.(?)" "p.(=)" ""
"0000887979" "00009234" "50" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" ""
"0000964621" "00009234" "50" "-176160" "0" "-176160" "0" "c.-176160C>T" "r.(?)" "p.(=)" ""
"0000977798" "00009234" "30" "-130562" "0" "-130562" "0" "c.-130562C>T" "r.(?)" "p.(=)" ""
"0000977849" "00009234" "30" "-17332" "0" "-17331" "0" "c.-17332_-17331del" "r.(?)" "p.(=)" ""
"0000977857" "00009234" "50" "422" "0" "422" "0" "c.422T>G" "r.(?)" "p.(Leu141Arg)" ""
"0000977858" "00009234" "30" "550" "0" "550" "0" "c.550C>A" "r.(?)" "p.(Arg184Ser)" ""
"0000977859" "00009234" "50" "838" "0" "838" "0" "c.838T>C" "r.(?)" "p.(Tyr280His)" ""
"0000977860" "00009234" "50" "1255" "0" "1255" "0" "c.1255A>G" "r.(?)" "p.(Ser419Gly)" ""
"0000977861" "00009234" "30" "1446" "0" "1446" "0" "c.1446C>G" "r.(?)" "p.(=)" ""
"0000977864" "00009234" "30" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Gln593Arg)" ""
"0000996589" "00009234" "50" "-176163" "0" "-176163" "0" "c.-176163C>T" "r.(?)" "p.(=)" ""
"0000996622" "00009234" "30" "-119297" "0" "-119297" "0" "c.-119297T>C" "r.(?)" "p.(=)" ""
"0000996628" "00009234" "30" "-49467" "0" "-49467" "0" "c.-49467C>T" "r.(?)" "p.(=)" ""
"0000996629" "00009234" "30" "-46076" "0" "-46076" "0" "c.-46076G>C" "r.(?)" "p.(=)" ""
"0000996630" "00009234" "30" "-46050" "0" "-46050" "0" "c.-46050T>C" "r.(?)" "p.(=)" ""
"0001027632" "00009234" "30" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" ""
"0001027633" "00009234" "30" "1131" "0" "1131" "0" "c.1131G>T" "r.(?)" "p.(Val377=)" ""
"0001027634" "00009234" "50" "1292" "0" "1292" "0" "c.1292T>C" "r.(?)" "p.(Val431Ala)" ""
"0001036486" "00009234" "30" "-89029" "0" "-89029" "0" "c.-89029G>A" "r.(?)" "p.(=)" ""
"0001036534" "00009234" "30" "-6333" "0" "-6333" "0" "c.-6333T>A" "r.(?)" "p.(=)" ""
"0001036536" "00009234" "50" "1025" "-14" "1025" "-3" "c.1025-14_1025-3del" "r.spl?" "p.?" ""
"0001036537" "00009234" "30" "1025" "-10" "1025" "-10" "c.1025-10T>G" "r.(=)" "p.(=)" ""
"0001036541" "00009234" "50" "1742" "0" "1742" "0" "c.1742C>T" "r.(?)" "p.(Ser581Leu)" ""
"0001052558" "00009234" "50" "-176181" "0" "-176181" "0" "c.-176181T>C" "r.(?)" "p.(=)" ""
"0001052559" "00009234" "50" "-147442" "0" "-147442" "0" "c.-147442C>T" "r.(?)" "p.(=)" ""
"0001052560" "00009234" "30" "-46097" "0" "-46097" "0" "c.-46097G>A" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{variantid}}"
"0000003218" "0000021765"
"0000295669" "0000652358"
"0000306298" "0000669986"
"0000463988" "0001027632"
"0000463989" "0001027633"
"0000463990" "0001027634"