### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NCF4) # 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}}" "NCF4" "neutrophil cytosolic factor 4, 40kDa" "22" "q13.1" "unknown" "LRG_159" "UD_132119001044" "" "https://www.LOVD.nl/NCF4" "" "1" "7662" "4689" "601488" "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/NCF4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-12 18:31:18" "00000" "2023-11-27 17:35:39" ## 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}}" "00014350" "NCF4" "transcript variant 1" "002" "NM_000631.4" "" "NP_000622.2" "" "" "" "-184" "1214" "1020" "37257030" "37274059" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03498" "CGD3" "granulomatous disease, chronic, autosomal recessive cytochrome b-positive, type 3" "AR" "613960" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05349" "CGD" "granulomatous disease, chronic" "" "" "" "" "" "00006" "2017-11-24 16:14:58" "00006" "2023-02-13 16:42:42" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NCF4" "03498" "NCF4" "05349" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00415365" "" "" "" "1" "" "00006" "{PMID:Matute 2009:19692703}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "" "patient" "00415366" "" "" "" "1" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamA" "00415367" "" "" "" "7" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamB" "00415368" "" "" "" "2" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "" "Portugal" "" "0" "" "" "" "FamC" "00415369" "" "" "" "1" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Australia" "" "0" "" "" "" "FamD" "00415370" "" "" "" "1" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamE" "00415371" "" "" "" "1" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamF" "00415372" "" "" "" "1" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, 1 affected/3 unaffected homozygous, unaffected heterozygous carrier parents/relatives" "M" "" "Colombia" "" "0" "" "" "" "FamG" "00415373" "" "" "" "1" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Argentina" "" "0" "" "" "" "FamH" "00415374" "" "" "" "2" "" "00006" "{PMID:van de Geer 2018:29969437}" "3 generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Kuwait" "" "0" "" "" "" "FamI" "00415375" "" "" "" "1" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Portugal" "" "0" "" "" "" "FamJ" "00415376" "" "" "" "1" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Russia" "" "0" "" "" "" "FamK" "00415377" "" "" "" "1" "" "00006" "{PMID:van de Geer 2018:29969437}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Chile" "" "0" "" "" "" "FamL" "00415378" "" "" "" "1" "" "00006" "{PMID:Wright 2019:31027832}" "" "M" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00415365" "05349" "00415366" "05349" "00415367" "05349" "00415368" "05349" "00415369" "05349" "00415370" "05349" "00415371" "05349" "00415372" "05349" "00415373" "05349" "00415374" "05349" "00415375" "05349" "00415376" "05349" "00415377" "05349" "00415378" "05349" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03498, 05349 ## Count = 13 "{{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}}" "0000307161" "05349" "00415366" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307162" "05349" "00415367" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307163" "05349" "00415368" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307164" "05349" "00415369" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307165" "05349" "00415370" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307166" "05349" "00415371" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307167" "05349" "00415372" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307168" "05349" "00415373" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307169" "05349" "00415374" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307170" "05349" "00415375" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307171" "05349" "00415376" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307172" "05349" "00415377" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "CGD3" "chronic granulomatous disease" "0000307173" "05349" "00415378" "00006" "Unknown" "04y" "see paper; ..., early onset granulomatous colitis" "" "" "" "" "" "" "" "" "granulomatous colitis" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000416646" "00415365" "1" "00006" "00006" "2022-08-12 18:39:04" "00006" "2022-08-12 18:46:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000416647" "00415366" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416648" "00415367" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416649" "00415368" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416650" "00415369" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416651" "00415370" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416652" "00415371" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416653" "00415372" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416654" "00415373" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416655" "00415374" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416656" "00415375" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416657" "00415376" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416658" "00415377" "1" "00006" "00006" "2022-08-12 19:43:00" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000416659" "00415378" "1" "00006" "00006" "2022-08-12 19:55:51" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000416646" "NCF4" ## 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 = 75 "{{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}}" "0000249271" "0" "10" "22" "37267767" "37267767" "subst" "0.72048" "02325" "NCF4_000005" "g.37267767A>G" "" "" "" "NCF4(NM_013416.4):c.528+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36871725A>G" "" "benign" "" "0000252347" "0" "30" "22" "37266453" "37266453" "subst" "0.00316847" "02326" "NCF4_000003" "g.37266453A>G" "" "" "" "NCF4(NM_013416.3):c.343-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36870411A>G" "" "likely benign" "" "0000256190" "0" "50" "22" "37261045" "37261045" "subst" "0" "01943" "NCF4_000002" "g.37261045A>G" "" "" "" "NCF4(NM_013416.3):c.202A>G (p.K68E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36865003A>G" "" "VUS" "" "0000296336" "0" "10" "22" "37268257" "37268257" "subst" "0" "02325" "NCF4_000006" "g.37268257C>T" "" "" "" "NCF4(NM_013416.4):c.529-112C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36872215C>T" "" "benign" "" "0000296337" "0" "10" "22" "37271802" "37271802" "subst" "0.0951944" "02325" "NCF4_000007" "g.37271802C>T" "" "" "" "NCF4(NM_013416.4):c.735C>T (p.Y245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36875760C>T" "" "benign" "" "0000296338" "0" "10" "22" "37271882" "37271882" "subst" "0.831502" "02325" "NCF4_000008" "g.37271882T>C" "" "" "" "NCF4(NM_013416.4):c.815T>C (p.L272P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36875840T>C" "" "benign" "" "0000296339" "0" "10" "22" "37273742" "37273742" "subst" "0.0957187" "02325" "NCF4_000009" "g.37273742G>A" "" "" "" "NCF4(NM_000631.5):c.897G>A (p.S299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36877700G>A" "" "benign" "" "0000302923" "0" "30" "22" "37260081" "37260081" "subst" "0.000121819" "01943" "NCF4_000001" "g.37260081G>A" "" "" "" "NCF4(NM_013416.3):c.33-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36864039G>A" "" "likely benign" "" "0000302924" "0" "10" "22" "37267701" "37267701" "subst" "0.00182287" "01943" "NCF4_000004" "g.37267701G>A" "" "" "" "NCF4(NM_013416.3):c.478G>A (p.V160M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36871659G>A" "" "benign" "" "0000571921" "0" "50" "22" "37257241" "37257241" "subst" "2.73261E-5" "01943" "NCF4_000010" "g.37257241G>A" "" "" "" "NCF4(NM_013416.3):c.28G>A (p.E10K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36861199G>A" "" "VUS" "" "0000571922" "0" "30" "22" "37261021" "37261021" "subst" "7.31143E-5" "02326" "NCF4_000011" "g.37261021C>T" "" "" "" "NCF4(NM_013416.3):c.178C>T (p.R60C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36864979C>T" "" "likely benign" "" "0000571923" "0" "30" "22" "37261121" "37261121" "subst" "0.0018451" "02326" "NCF4_000012" "g.37261121G>A" "" "" "" "NCF4(NM_013416.3):c.271+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36865079G>A" "" "likely benign" "" "0000571924" "0" "30" "22" "37266453" "37266453" "subst" "0.00316847" "01943" "NCF4_000003" "g.37266453A>G" "" "" "" "NCF4(NM_013416.3):c.343-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36870411A>G" "" "likely benign" "" "0000571925" "0" "30" "22" "37266504" "37266504" "subst" "8.94091E-5" "01943" "NCF4_000013" "g.37266504G>A" "" "" "" "NCF4(NM_013416.3):c.390G>A (p.R130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36870462G>A" "" "likely benign" "" "0000571926" "0" "30" "22" "37271983" "37271983" "subst" "1.62546E-5" "01943" "NCF4_000014" "g.37271983T>C" "" "" "" "NCF4(NM_013416.3):c.916T>C (p.W306R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36875941T>C" "" "likely benign" "" "0000571927" "0" "30" "22" "37272110" "37272110" "subst" "3.29091E-5" "01943" "NCF4_000015" "g.37272110A>G" "" "" "" "NCF4(NM_013416.3):c.1043A>G (p.Y348C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36876068A>G" "" "likely benign" "" "0000571928" "0" "30" "22" "37272156" "37272156" "subst" "0.00177889" "02326" "NCF4_000016" "g.37272156G>C" "" "" "" "NCF4(NM_013416.3):c.*22+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36876114G>C" "" "likely benign" "" "0000571929" "0" "50" "22" "37273696" "37273696" "subst" "0" "01943" "NCF4_000017" "g.37273696C>T" "" "" "" "NCF4(NM_000631.5):c.851C>T (p.A284V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36877654C>T" "" "VUS" "" "0000618580" "0" "50" "22" "37260142" "37260142" "subst" "1.62425E-5" "01943" "NCF4_000018" "g.37260142G>A" "" "" "" "NCF4(NM_013416.3):c.88G>A (p.E30K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36864100G>A" "" "VUS" "" "0000618581" "0" "30" "22" "37261097" "37261097" "subst" "0.00226007" "01943" "NCF4_000019" "g.37261097C>A" "" "" "" "NCF4(NM_013416.3):c.254C>A (p.T85N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36865055C>A" "" "likely benign" "" "0000618582" "0" "30" "22" "37261121" "37261121" "subst" "0.0018451" "01943" "NCF4_000012" "g.37261121G>A" "" "" "" "NCF4(NM_013416.3):c.271+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36865079G>A" "" "likely benign" "" "0000618583" "0" "30" "22" "37271857" "37271857" "subst" "0.00010558" "01943" "NCF4_000020" "g.37271857G>A" "" "" "" "NCF4(NM_013416.3):c.790G>A (p.A264T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36875815G>A" "" "likely benign" "" "0000658945" "0" "30" "22" "37266498" "37266498" "subst" "8.53402E-5" "01943" "NCF4_000021" "g.37266498C>T" "" "" "" "NCF4(NM_013416.3):c.384C>T (p.D128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36870456C>T" "" "likely benign" "" "0000693179" "0" "50" "22" "37273752" "37273752" "subst" "1.21852E-5" "01943" "NCF4_000022" "g.37273752G>A" "" "" "" "NCF4(NM_000631.5):c.907G>A (p.V303I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728138" "0" "10" "22" "37267701" "37267701" "subst" "0.00182287" "02326" "NCF4_000004" "g.37267701G>A" "" "" "" "NCF4(NM_013416.3):c.478G>A (p.V160M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866834" "0" "30" "22" "37273751" "37273751" "subst" "0.000268064" "02326" "NCF4_000023" "g.37273751C>T" "" "" "" "NCF4(NM_000631.5):c.906C>T (p.D302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874821" "11" "90" "22" "37260986" "37260995" "dup" "0" "00006" "NCF4_000024" "g.37260986_37260995dup" "" "{PMID:Matute 2009:19692703}" "" "3957_3966dup" "" "Germline" "" "" "0" "" "" "g.36864944_36864953dup" "" "pathogenic (recessive)" "" "0000874822" "21" "90" "22" "37263476" "37263476" "subst" "2.84278E-5" "00006" "NCF4_000025" "g.37263476G>A" "" "{PMID:Matute 2009:19692703}" "" "6447G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000874823" "3" "90" "22" "37260960" "37260960" "subst" "0.000117802" "00006" "NCF4_000036" "g.37260960G>A" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36864918G>A" "" "pathogenic (recessive)" "" "0000874824" "3" "90" "22" "37263476" "37263476" "subst" "2.84278E-5" "00006" "NCF4_000025" "g.37263476G>A" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36867434G>A" "" "pathogenic (recessive)" "" "0000874825" "3" "90" "22" "37260963" "37260977" "del" "0" "00006" "NCF4_000026" "g.37260963_37260977del" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36864921_36864935del" "" "pathogenic (recessive)" "" "0000874826" "21" "90" "22" "37260960" "37260960" "subst" "0.000117802" "00006" "NCF4_000036" "g.37260960G>A" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36864918G>A" "" "pathogenic (recessive)" "" "0000874827" "3" "90" "22" "37260960" "37260960" "subst" "0.000117802" "00006" "NCF4_000036" "g.37260960G>A" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36864918G>A" "" "pathogenic (recessive)" "" "0000874828" "3" "90" "22" "37257247" "37257247" "subst" "0" "00006" "NCF4_000030" "g.37257247T>G" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36861205T>G" "" "pathogenic (recessive)" "" "0000874829" "3" "90" "22" "37261015" "37261015" "subst" "0.00140136" "00006" "NCF4_000037" "g.37261015C>T" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36864973C>T" "" "pathogenic (recessive)" "" "0000874830" "3" "90" "22" "37266544" "37266544" "subst" "0" "00006" "NCF4_000044" "g.37266544C>A" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36870502C>A" "" "pathogenic (recessive)" "" "0000874831" "3" "90" "22" "37271783" "37271783" "subst" "0" "00006" "NCF4_000050" "g.37271783G>A" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36875741G>A" "" "pathogenic (recessive)" "" "0000874832" "11" "90" "22" "37260963" "37260977" "del" "0" "00006" "NCF4_000026" "g.37260963_37260977del" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36864921_36864935del" "" "pathogenic (recessive)" "" "0000874833" "3" "90" "22" "37260960" "37260960" "subst" "0.000117802" "00006" "NCF4_000036" "g.37260960G>A" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36864918G>A" "" "pathogenic (recessive)" "" "0000874834" "3" "90" "22" "37261015" "37261015" "subst" "0.00140136" "00006" "NCF4_000037" "g.37261015C>T" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Germline" "" "" "0" "" "" "g.36864973C>T" "" "pathogenic (recessive)" "" "0000874835" "11" "90" "22" "37272070" "37272070" "subst" "1.63191E-5" "00006" "NCF4_000052" "g.37272070G>C" "" "{PMID:van de Geer 2018:29969437}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.36876028G>C" "" "pathogenic (recessive)" "" "0000874836" "11" "90" "22" "37260963" "37260977" "del" "0" "00006" "NCF4_000026" "g.37260963_37260977del" "" "{PMID:van de Geer 2018:29969437}" "" "" "" "Uniparental disomy, paternal allele" "" "" "0" "" "" "g.36864921_36864935del" "" "pathogenic (recessive)" "" "0000874837" "11" "90" "22" "37261022" "37261022" "subst" "5.688E-5" "00006" "NCF4_000027" "g.37261022G>A" "" "{PMID:Wright 2019:31027832}" "" "174G>A (Arg60His)" "" "Germline" "" "rs36984756" "0" "" "" "" "" "pathogenic" "" "0000874838" "0" "10" "22" "37260117" "37260117" "subst" "0.00639943" "00006" "NCF4_000028" "g.37260117C>T" "" "{PMID:Roos 2021:34547651}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36864075C>T" "" "benign" "" "0000874839" "0" "10" "22" "37260123" "37260123" "subst" "0.0404356" "00006" "NCF4_000029" "g.37260123G>A" "" "{PMID:Roos 2021:34547651}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36864081G>A" "" "benign" "" "0000874840" "0" "10" "22" "37271802" "37271802" "subst" "0.0951944" "00006" "NCF4_000007" "g.37271802C>T" "" "{PMID:Roos 2021:34547651}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36875760C>T" "" "benign" "" "0000874841" "0" "10" "22" "37260141" "37260141" "subst" "4.06105E-5" "00006" "NCF4_000034" "g.37260141C>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "rs13057803" "0" "" "" "g.36864099C>T" "" "benign" "" "0000874842" "0" "10" "22" "37261097" "37261097" "subst" "0.00226007" "00006" "NCF4_000019" "g.37261097C>A" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36865055C>A" "" "benign" "" "0000874843" "0" "10" "22" "37266467" "37266467" "subst" "0" "00006" "NCF4_000043" "g.37266467G>A" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "rs9610595" "0" "" "" "g.36870425G>A" "" "benign" "" "0000874844" "0" "10" "22" "37266565" "37266565" "subst" "4.08407E-5" "00006" "NCF4_000045" "g.37266565C>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36870523C>T" "" "benign" "" "0000874845" "0" "10" "22" "37267767" "37267767" "subst" "0.72048" "00006" "NCF4_000005" "g.37267767A>G" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36871725A>G" "" "benign" "" "0000874846" "0" "10" "22" "37271714" "37271714" "subst" "0.000613387" "00006" "NCF4_000049" "g.37271714C>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36875672C>T" "" "benign" "" "0000874847" "0" "10" "22" "0" "0" "" "0" "00006" "NCF4_000000" "g.?" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}, {PMID:Lee 2006:16608528}, {DOI:Lee 2006:10.1186/1477-5751-5-5}" "" "815C>T (P272L), 815G>A (P272L)" "" "SUMMARY record" "" "" "0" "" "" "" "" "benign" "" "0000874848" "0" "10" "22" "37273756" "37273756" "subst" "0.000121851" "00006" "NCF4_000053" "g.37273756C>A" "" "{PMID:Lee 2006:16608528}, {DOI:Lee 2006:10.1186/1477-5751-5-5}" "" "" "" "SUMMARY record" "" "rs5995361" "0" "" "" "g.36877714C>A" "" "benign" "" "0000876118" "0" "10" "22" "37258503" "37258503" "subst" "0" "00006" "NCF4_000031" "g.37258503T>G" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36862461T>G" "" "benign" "" "0000876119" "0" "10" "22" "37258986" "37258986" "subst" "0" "00006" "NCF4_000032" "g.37258986C>T" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36862944C>T" "" "benign" "" "0000876120" "0" "10" "22" "37259359" "37259359" "subst" "0" "00006" "NCF4_000033" "g.37259359T>C" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36863317T>C" "" "benign" "" "0000876121" "0" "10" "22" "37260601" "37260601" "subst" "0" "00006" "NCF4_000035" "g.37260601A>G" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36864559A>G" "" "benign" "" "0000876122" "0" "10" "22" "37263706" "37263706" "subst" "0" "00006" "NCF4_000038" "g.37263706C>G" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36867664C>G" "" "benign" "" "0000876123" "0" "10" "22" "37263846" "37263846" "subst" "0" "00006" "NCF4_000039" "g.37263846T>G" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36867804T>G" "" "benign" "" "0000876124" "0" "10" "22" "37264830" "37264830" "subst" "0" "00006" "NCF4_000040" "g.37264830A>G" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36868788A>G" "" "benign" "" "0000876125" "0" "10" "22" "37265079" "37265079" "subst" "0" "00006" "NCF4_000041" "g.37265079G>A" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36869037G>A" "" "benign" "" "0000876126" "0" "10" "22" "37266118" "37266118" "subst" "0" "00006" "NCF4_000042" "g.37266118G>A" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36870076G>A" "" "benign" "" "0000876127" "0" "10" "22" "37267767" "37267767" "subst" "0.72048" "00006" "NCF4_000005" "g.37267767A>G" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36871725A>G" "" "benign" "" "0000876128" "0" "10" "22" "37269178" "37269178" "subst" "0" "00006" "NCF4_000046" "g.37269178A>G" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36873136A>G" "" "benign" "" "0000876129" "0" "10" "22" "37269507" "37269507" "subst" "0" "00006" "NCF4_000047" "g.37269507T>G" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36873465T>G" "" "benign" "" "0000876130" "0" "10" "22" "37270502" "37270502" "subst" "0" "00006" "NCF4_000048" "g.37270502A>G" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36874460A>G" "" "benign" "" "0000876131" "0" "10" "22" "37271882" "37271882" "subst" "0" "00006" "NCF4_000051" "g.37271882T>A" "" "{PMID:Roos 2010:20167518}, {DOI:Roos 2010:10.1016/j.bcmd.2010.01.009}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.36875840T>A" "" "benign" "" "0000895723" "0" "70" "22" "37260104" "37260104" "subst" "9.33927E-5" "02325" "NCF4_000054" "g.37260104C>T" "" "" "" "NCF4(NM_013416.4):c.50C>T (p.P17L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895724" "0" "50" "22" "37271715" "37271715" "subst" "4.08948E-5" "02326" "NCF4_000055" "g.37271715G>A" "" "" "" "NCF4(NM_013416.3):c.648G>A (p.T216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895725" "0" "30" "22" "37271876" "37271876" "subst" "0.00012183" "02326" "NCF4_000056" "g.37271876G>A" "" "" "" "NCF4(NM_013416.3):c.809G>A (p.R270Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931289" "0" "30" "22" "37260112" "37260112" "subst" "4.46661E-5" "02326" "NCF4_000057" "g.37260112G>A" "" "" "" "NCF4(NM_013416.3):c.58G>A (p.V20I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931290" "0" "30" "22" "37272064" "37272064" "subst" "7.33963E-5" "02326" "NCF4_000058" "g.37272064C>A" "" "" "" "NCF4(NM_013416.3):c.997C>A (p.P333T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951603" "0" "30" "22" "37266498" "37266498" "subst" "8.53402E-5" "02326" "NCF4_000021" "g.37266498C>T" "" "" "" "NCF4(NM_013416.3):c.384C>T (p.D128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951604" "0" "30" "22" "37268372" "37268372" "subst" "1.62423E-5" "02326" "NCF4_000059" "g.37268372C>T" "" "" "" "NCF4(NM_013416.3):c.532C>T (p.L178=)" "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 NCF4 ## Count = 75 "{{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}}" "0000249271" "00014350" "10" "528" "16" "528" "16" "c.528+16A>G" "r.(=)" "p.(=)" "" "0000252347" "00014350" "30" "343" "-4" "343" "-4" "c.343-4A>G" "r.spl?" "p.?" "" "0000256190" "00014350" "50" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Lys68Glu)" "" "0000296336" "00014350" "10" "529" "-112" "529" "-112" "c.529-112C>T" "r.(=)" "p.(=)" "" "0000296337" "00014350" "10" "735" "0" "735" "0" "c.735C>T" "r.(?)" "p.(Tyr245=)" "" "0000296338" "00014350" "10" "758" "57" "758" "57" "c.758+57T>C" "r.(=)" "p.(=)" "" "0000296339" "00014350" "10" "897" "0" "897" "0" "c.897G>A" "r.(?)" "p.(Ser299=)" "" "0000302923" "00014350" "30" "33" "-6" "33" "-6" "c.33-6G>A" "r.(=)" "p.(=)" "" "0000302924" "00014350" "10" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Val160Met)" "" "0000571921" "00014350" "50" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Glu10Lys)" "" "0000571922" "00014350" "30" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60Cys)" "" "0000571923" "00014350" "30" "271" "7" "271" "7" "c.271+7G>A" "r.(=)" "p.(=)" "" "0000571924" "00014350" "30" "343" "-4" "343" "-4" "c.343-4A>G" "r.spl?" "p.?" "" "0000571925" "00014350" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Arg130=)" "" "0000571926" "00014350" "30" "759" "-88" "759" "-88" "c.759-88T>C" "r.(=)" "p.(=)" "" "0000571927" "00014350" "30" "798" "0" "798" "0" "c.798A>G" "r.(?)" "p.(Leu266=)" "" "0000571928" "00014350" "30" "824" "20" "824" "20" "c.824+20G>C" "r.(=)" "p.(=)" "" "0000571929" "00014350" "50" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Ala284Val)" "" "0000618580" "00014350" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Glu30Lys)" "" "0000618581" "00014350" "30" "254" "0" "254" "0" "c.254C>A" "r.(?)" "p.(Thr85Asn)" "" "0000618582" "00014350" "30" "271" "7" "271" "7" "c.271+7G>A" "r.(=)" "p.(=)" "" "0000618583" "00014350" "30" "758" "32" "758" "32" "c.758+32G>A" "r.(=)" "p.(=)" "" "0000658945" "00014350" "30" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Asp128=)" "" "0000693179" "00014350" "50" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Ile)" "" "0000728138" "00014350" "10" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Val160Met)" "" "0000866834" "00014350" "30" "906" "0" "906" "0" "c.906C>T" "r.(?)" "p.(Asp302=)" "" "0000874821" "00014350" "90" "143" "0" "152" "0" "c.143_152dup" "r.143_152dup" "p.Lys52Argfs*79" "" "0000874822" "00014350" "90" "314" "0" "314" "0" "c.314G>A" "r.314g>a" "p.Arg105Gln" "" "0000874823" "00014350" "90" "118" "-1" "118" "-1" "c.118-1G>A" "r.[33_270del,33_341del,118_198del]" "p.?" "" "0000874824" "00014350" "90" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Gln)" "" "0000874825" "00014350" "90" "120" "0" "134" "0" "c.120_134del" "c.[120_134del,?]" "p.[Phe41_Val45del,?]" "" "0000874826" "00014350" "90" "118" "-1" "118" "-1" "c.118-1G>A" "r.[33_270del,33_341del,118_198del]" "p.?" "" "0000874827" "00014350" "90" "118" "-1" "118" "-1" "c.118-1G>A" "r.[33_270del,33_341del,118_198del]" "p.?" "" "0000874828" "00014350" "90" "32" "2" "32" "2" "c.32+2T>G" "r.spl" "p.?" "" "0000874829" "00014350" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Cys)" "" "0000874830" "00014350" "90" "430" "0" "430" "0" "c.430C>A" "r.(?)" "p.(Pro144Thr)" "" "0000874831" "00014350" "90" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Trp239Ter)" "" "0000874832" "00014350" "90" "120" "0" "134" "0" "c.120_134del" "c.[120_134del,?]" "p.[Phe41_Val45del,?]" "" "0000874833" "00014350" "90" "118" "-1" "118" "-1" "c.118-1G>A" "r.[33_270del,33_341del,118_198del]" "p.?" "" "0000874834" "00014350" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Cys)" "" "0000874835" "00014350" "90" "759" "-1" "759" "-1" "c.759-1G>C" "r.([758_759ins[759-37_759-2;c],758_759ins[758+1_759-2;c],758_759ins[759-16_759-2;c]])" "p.?" "" "0000874836" "00014350" "90" "120" "0" "134" "0" "c.120_134del" "c.[120_134del,?]" "p.[Phe41_Val45del,?]" "" "0000874837" "00014350" "90" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60His)" "" "0000874838" "00014350" "10" "63" "0" "63" "0" "c.63C>T" "r.(=)" "p.(Ala21=)" "" "0000874839" "00014350" "10" "69" "0" "69" "0" "c.69G>A" "r.(=)" "p.(Ser23=)" "" "0000874840" "00014350" "10" "735" "0" "735" "0" "c.735C>T" "r.(=)" "p.(Tyr245=)" "" "0000874841" "00014350" "10" "87" "0" "87" "0" "c.87C>T" "r.(?)" "p.(Ile29=)" "" "0000874842" "00014350" "10" "254" "0" "254" "0" "c.254C>A" "r.(?)" "p.(Thr85Asn)" "" "0000874843" "00014350" "10" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Ser118Asn)" "" "0000874844" "00014350" "10" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "" "0000874845" "00014350" "10" "528" "16" "528" "16" "c.528+16A>G" "r.(?)" "p.(=)" "" "0000874846" "00014350" "10" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Thr216Met)" "" "0000874847" "00014350" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000874848" "00014350" "10" "911" "0" "911" "0" "c.911C>A" "r.(?)" "p.(Ala304Glu)" "" "0000876118" "00014350" "10" "32" "1258" "32" "1258" "c.32+1258T>G" "r.(?)" "p.(=)" "" "0000876119" "00014350" "10" "33" "-1101" "33" "-1101" "c.33-1101C>T" "r.(?)" "p.(=)" "" "0000876120" "00014350" "10" "33" "-728" "33" "-728" "c.33-728T>C" "r.(?)" "p.(=)" "" "0000876121" "00014350" "10" "118" "-360" "118" "-360" "c.118-360A>G" "r.(?)" "p.(=)" "" "0000876122" "00014350" "10" "342" "202" "342" "202" "c.342+202C>G" "r.(?)" "p.(=)" "" "0000876123" "00014350" "10" "342" "342" "342" "342" "c.342+342T>G" "r.(?)" "p.(=)" "" "0000876124" "00014350" "10" "342" "1326" "342" "1326" "c.342+1326A>G" "r.(?)" "p.(=)" "" "0000876125" "00014350" "10" "343" "-1378" "343" "-1378" "c.343-1378G>A" "r.(?)" "p.(=)" "" "0000876126" "00014350" "10" "343" "-339" "343" "-339" "c.343-339G>A" "r.(?)" "p.(=)" "" "0000876127" "00014350" "10" "528" "16" "528" "16" "c.528+16A>G" "r.(?)" "p.(=)" "" "0000876128" "00014350" "10" "627" "711" "627" "711" "c.627+711A>G" "r.(?)" "p.(=)" "" "0000876129" "00014350" "10" "627" "1040" "627" "1040" "c.627+1040T>G" "r.(?)" "p.(=)" "" "0000876130" "00014350" "10" "628" "-1193" "628" "-1193" "c.628-1193A>G" "r.(?)" "p.(=)" "" "0000876131" "00014350" "10" "758" "57" "758" "57" "c.758+57T>A" "r.(?)" "p.(=)" "" "0000895723" "00014350" "70" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Pro17Leu)" "" "0000895724" "00014350" "50" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Thr216=)" "" "0000895725" "00014350" "30" "758" "51" "758" "51" "c.758+51G>A" "r.(=)" "p.(=)" "" "0000931289" "00014350" "30" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Val20Ile)" "" "0000931290" "00014350" "30" "759" "-7" "759" "-7" "c.759-7C>A" "r.(=)" "p.(=)" "" "0000951603" "00014350" "30" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Asp128=)" "" "0000951604" "00014350" "30" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000416646" "0000874821" "0000416646" "0000874822" "0000416647" "0000874823" "0000416648" "0000874824" "0000416649" "0000874825" "0000416650" "0000874826" "0000416650" "0000874835" "0000416651" "0000874827" "0000416652" "0000874828" "0000416653" "0000874829" "0000416654" "0000874830" "0000416655" "0000874831" "0000416656" "0000874832" "0000416656" "0000874836" "0000416657" "0000874833" "0000416658" "0000874834" "0000416659" "0000874837"