### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DCAF17) # 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}}" "DCAF17" "DDB1 and CUL4 associated factor 17" "2" "q31.1" "unknown" "NG_013038.2" "UD_132118279407" "" "https://www.LOVD.nl/DCAF17" "" "1" "25784" "80067" "612515" "1" "1" "1" "1" "Alias C2orf37.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DCAF17_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-16 13:29:02" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006145" "DCAF17" "transcript variant 1" "001" "NM_025000.3" "" "NP_079276.2" "" "" "" "-327" "5501" "1563" "172290761" "172341562" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00873" "WDSKS" "Woodhouse-Sakati syndrome (WDSKS)" "AR" "241080" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03256" "HYPTSV" "hypotrichosis and recurrent skin vesicles" "AR" "613102" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-07-14 11:04:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DCAF17" "00139" "DCAF17" "00873" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00108616" "" "" "" "1" "" "01240" "" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00324498" "" "" "" "6" "" "00006" "{PMID:Alazami 2008:19026396}" "5-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1" "00324499" "" "" "" "1" "" "00006" "{PMID:Alazami 2008:19026396}" "family" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam2" "00324500" "" "" "" "1" "" "00006" "{PMID:Alazami 2008:19026396}" "family" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam3" "00324501" "" "" "" "1" "" "00006" "{PMID:Alazami 2008:19026396}" "family" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam4" "00324502" "" "" "" "1" "" "00006" "{PMID:Alazami 2008:19026396}" "family" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam5" "00324503" "" "" "" "1" "" "00006" "{PMID:Alazami 2008:19026396}" "family" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam6" "00324504" "" "" "" "1" "" "00006" "{PMID:Alazami 2008:19026396}" "family" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam7" "00324505" "" "" "" "1" "" "00006" "{PMID:Medica 2007:17710875}, {PMID:Alazami 2008:19026396}" "isolated case" "" "" "Slovenia" "" "0" "" "" "Eastern Europe" "patient" "00324506" "" "" "" "1" "" "00006" "{PMID:Koshy 2008:18049083}, {PMID:Alazami 2008:19026396}" "family, 3 affected, unaffected parents" "" "" "India" "" "0" "" "" "" "family" "00324507" "" "" "" "1" "" "00006" "{PMID:Schneider 2008:18175354]}, {PMID:Alazami 2008:19026396}" "family, 2 affected, unaffected parents" "" "" "" "" "0" "" "" "Middle East" "family" "00324508" "" "" "" "1" "" "00006" "{PMID:Alazami 2010:20507343}" "" "M" "yes" "Turkey" "" "0" "" "" "" "FamIPat1" "00324509" "" "" "" "1" "" "00006" "{PMID:Alazami 2010:20507343}" "" "F" "" "Canada" "" "0" "" "" "Italy" "FamIIPat1" "00324510" "" "" "" "3" "" "00006" "{PMID:Alazami 2010:20507343}" "family, 3 affected, unaffected parents" "M" "yes" "France" "" "0" "" "" "gypsy" "FamIIIPat1" "00324511" "" "" "00324510" "1" "" "00006" "{PMID:Alazami 2010:20507343}" "sister" "F" "yes" "France" "" "0" "" "" "gypsy" "FamIIIPat2" "00324512" "" "" "00324510" "1" "" "00006" "{PMID:Alazami 2010:20507343}" "sister" "F" "yes" "France" "" "0" "" "" "gypsy" "FamIIIPat3" "00324513" "" "" "" "2" "" "00006" "{PMID:Alazami 2010:20507343}" "family, affected brother/sister" "M" "" "Italy" "" "0" "" "" "" "FamIVPat1" "00324514" "" "" "00324513" "1" "" "00006" "{PMID:Alazami 2010:20507343}" "sister" "F" "" "Italy" "" "0" "" "" "" "FamIVPat2" "00361610" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG1396" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00108616" "03256" "00324498" "00198" "00324499" "00198" "00324500" "00198" "00324501" "00198" "00324502" "00198" "00324503" "00198" "00324504" "00198" "00324505" "00198" "00324506" "00198" "00324507" "00198" "00324508" "00198" "00324509" "00198" "00324510" "00198" "00324511" "00198" "00324512" "00198" "00324513" "00198" "00324514" "00198" "00361610" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00873, 03256 ## Count = 19 "{{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}}" "0000086094" "03256" "00108616" "01240" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243041" "00198" "00324498" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243042" "00198" "00324499" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243043" "00198" "00324500" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243044" "00198" "00324501" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243045" "00198" "00324502" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243046" "00198" "00324503" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243047" "00198" "00324504" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243048" "00198" "00324505" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243049" "00198" "00324506" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243050" "00198" "00324507" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypogonadism, alopecia, diabetes mellitus, mental retardation, extrapyramidal syndrome" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243051" "00198" "00324508" "00006" "Familial, autosomal recessive" "36y" "alopecia; hypogonadism; no deafness; cognitive impairment; dystonia; no diabetes; hypothyroidism, low IGF1, subtle white matter changes" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243052" "00198" "00324509" "00006" "Familial, autosomal recessive" "41y" "alopecia; hypogonadism; deafness; cognitive impairment; no dystonia; diabetes; peripheral neuropathy (?diabetes-related)" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243053" "00198" "00324510" "00006" "Familial, autosomal recessive" "15y" "alopecia; hypogonadism; deafness; cognitive impairment; no dystonia; no diabetes" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243054" "00198" "00324511" "00006" "Familial, autosomal recessive" "13y" "alopecia; hypogonadism; no deafness; no cognitive impairment; no dystonia; no diabetes" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243055" "00198" "00324512" "00006" "Familial, autosomal recessive" "12y" "alopecia; hypogonadism; no deafness; no cognitive impairment; no dystonia; no diabetes" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243056" "00198" "00324513" "00006" "Familial, autosomal recessive" "58y" "alopecia; hypogonadism; deafness; cognitive impairment; dystonia; diabetes" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000243057" "00198" "00324514" "00006" "Familial, autosomal recessive" "47y" "alopecia; hypogonadism; deafness; cognitive impairment; dystonia; diabetes" "" "" "" "" "" "" "" "" "WDSKS" "Woodhouse-Sakati syndrome" "" "0000257015" "00139" "00361610" "00006" "Familial, autosomal recessive" "21y" "syndromic; intellectual disability, hypogonadism, alopecia, diabetes" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000109083" "00108616" "1" "01240" "01240" "2017-07-26 16:37:44" "" "" "SEQ-NG" "RNA" "" "" "0000325689" "00324498" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325690" "00324499" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325691" "00324500" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325692" "00324501" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325693" "00324502" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325694" "00324503" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325695" "00324504" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325696" "00324505" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325697" "00324506" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325698" "00324507" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000325699" "00324508" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325700" "00324509" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325701" "00324510" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325702" "00324511" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325703" "00324512" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325704" "00324513" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000325705" "00324514" "1" "00006" "00006" "2020-12-16 14:19:51" "" "" "SEQ" "DNA" "" "" "0000362838" "00361610" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000109083" "DCAF17" "0000325689" "DCAF17" "0000325690" "DCAF17" "0000325691" "DCAF17" "0000325692" "DCAF17" "0000325693" "DCAF17" "0000325694" "DCAF17" "0000325695" "DCAF17" "0000325696" "DCAF17" "0000325697" "DCAF17" "0000325698" "DCAF17" "0000325699" "DCAF17" "0000325700" "DCAF17" "0000325701" "DCAF17" "0000325702" "DCAF17" "0000325703" "DCAF17" "0000325704" "DCAF17" "0000325705" "DCAF17" "0000362838" "DCAF17" ## 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 = 66 "{{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}}" "0000175147" "0" "70" "2" "172291088" "172291088" "subst" "2.49667E-5" "01240" "DCAF17_000001" "g.172291088A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.171434578A>G" "" "likely pathogenic" "" "0000247889" "0" "10" "2" "172330393" "172330393" "subst" "0.230408" "02325" "DCAF17_000014" "g.172330393A>G" "" "" "" "DCAF17(NM_025000.3):c.999A>G (p.Q333=), DCAF17(NM_025000.4):c.999A>G (p.Q333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171473883A>G" "" "benign" "" "0000249790" "0" "50" "2" "172291675" "172291675" "subst" "0.000125923" "02325" "DCAF17_000004" "g.172291675A>G" "" "" "" "DCAF17(NM_025000.4):c.209A>G (p.N70S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171435165A>G" "" "VUS" "" "0000249867" "0" "10" "2" "172330393" "172330393" "subst" "0.230408" "02329" "DCAF17_000014" "g.172330393A>G" "" "" "" "DCAF17(NM_025000.3):c.999A>G (p.Q333=), DCAF17(NM_025000.4):c.999A>G (p.Q333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171473883A>G" "" "benign" "" "0000253091" "0" "10" "2" "172330393" "172330393" "subst" "0.230408" "01943" "DCAF17_000014" "g.172330393A>G" "" "" "" "DCAF17(NM_025000.3):c.999A>G (p.Q333=), DCAF17(NM_025000.4):c.999A>G (p.Q333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171473883A>G" "" "benign" "" "0000256056" "0" "50" "2" "172325472" "172325472" "subst" "0.000223575" "01943" "DCAF17_000012" "g.172325472A>G" "" "" "" "DCAF17(NM_025000.3):c.913A>G (p.I305V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171468962A>G" "" "VUS" "" "0000267273" "0" "10" "2" "172336541" "172336541" "subst" "0.230395" "02325" "DCAF17_000015" "g.172336541C>T" "" "" "" "DCAF17(NM_025000.3):c.1267-7C>T, DCAF17(NM_025000.4):c.1267-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171480031C>T" "" "benign" "" "0000267274" "0" "10" "2" "172291616" "172291616" "subst" "0.275186" "02325" "DCAF17_000002" "g.172291616C>T" "" "" "" "DCAF17(NM_025000.3):c.150C>T (p.V50=), DCAF17(NM_025000.4):c.150C>T (p.V50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171435106C>T" "" "benign" "" "0000267275" "0" "10" "2" "172305177" "172305177" "subst" "0" "02325" "DCAF17_000007" "g.172305177C>T" "" "" "" "DCAF17(NM_025000.3):c.322-14C>T, DCAF17(NM_025000.4):c.322-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171448667C>T" "" "benign" "" "0000267276" "0" "10" "2" "172305176" "172305176" "dup" "0" "02325" "DCAF17_000006" "g.172305176dup" "" "" "" "DCAF17(NM_025000.4):c.322-15dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171448666dup" "" "benign" "" "0000267277" "0" "10" "2" "172329458" "172329458" "subst" "0" "02325" "DCAF17_000013" "g.172329458G>T" "" "" "" "DCAF17(NM_025000.4):c.982-918G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171472948G>T" "" "benign" "" "0000268648" "0" "10" "2" "172336541" "172336541" "subst" "0.230395" "02329" "DCAF17_000015" "g.172336541C>T" "" "" "" "DCAF17(NM_025000.3):c.1267-7C>T, DCAF17(NM_025000.4):c.1267-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171480031C>T" "" "benign" "" "0000268649" "0" "30" "2" "172291616" "172291616" "subst" "0.275186" "02329" "DCAF17_000002" "g.172291616C>T" "" "" "" "DCAF17(NM_025000.3):c.150C>T (p.V50=), DCAF17(NM_025000.4):c.150C>T (p.V50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171435106C>T" "" "likely benign" "" "0000268650" "0" "30" "2" "172305176" "172305176" "dup" "0" "02329" "DCAF17_000006" "g.172305176dup" "" "" "" "DCAF17(NM_025000.4):c.322-15dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171448666dup" "" "likely benign" "" "0000268651" "0" "30" "2" "172305177" "172305177" "subst" "0" "02329" "DCAF17_000007" "g.172305177C>T" "" "" "" "DCAF17(NM_025000.3):c.322-14C>T, DCAF17(NM_025000.4):c.322-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171448667C>T" "" "likely benign" "" "0000270680" "0" "30" "2" "172305177" "172305177" "subst" "0" "02326" "DCAF17_000007" "g.172305177C>T" "" "" "" "DCAF17(NM_025000.3):c.322-14C>T, DCAF17(NM_025000.4):c.322-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171448667C>T" "" "likely benign" "" "0000274753" "0" "10" "2" "172336541" "172336541" "subst" "0.230395" "01943" "DCAF17_000015" "g.172336541C>T" "" "" "" "DCAF17(NM_025000.3):c.1267-7C>T, DCAF17(NM_025000.4):c.1267-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171480031C>T" "" "benign" "" "0000274754" "0" "30" "2" "172336706" "172336706" "subst" "2.44854E-5" "01943" "DCAF17_000016" "g.172336706G>A" "" "" "" "DCAF17(NM_025000.3):c.1422+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171480196G>A" "" "likely benign" "" "0000274755" "0" "10" "2" "172291616" "172291616" "subst" "0.275186" "01943" "DCAF17_000002" "g.172291616C>T" "" "" "" "DCAF17(NM_025000.3):c.150C>T (p.V50=), DCAF17(NM_025000.4):c.150C>T (p.V50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171435106C>T" "" "benign" "" "0000274756" "0" "50" "2" "172291650" "172291650" "subst" "0.000593019" "01943" "DCAF17_000003" "g.172291650G>A" "" "" "" "DCAF17(NM_025000.3):c.184G>A (p.E62K, p.(Glu62Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171435140G>A" "" "VUS" "" "0000274757" "0" "10" "2" "172305177" "172305177" "subst" "0" "01943" "DCAF17_000007" "g.172305177C>T" "" "" "" "DCAF17(NM_025000.3):c.322-14C>T, DCAF17(NM_025000.4):c.322-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171448667C>T" "" "benign" "" "0000274758" "0" "30" "2" "172305177" "172305177" "delins" "0" "01943" "DCAF17_000008" "g.172305177delinsTT" "" "" "" "DCAF17(NM_025000.3):c.322-14delCinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171448667delinsTT" "" "likely benign" "" "0000274759" "0" "90" "2" "172309724" "172309724" "subst" "8.20789E-6" "01943" "DCAF17_000009" "g.172309724G>A" "" "" "" "DCAF17(NM_025000.3):c.627+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171453214G>A" "" "pathogenic" "" "0000274760" "0" "30" "2" "172314576" "172314576" "subst" "2.43986E-5" "01943" "DCAF17_000010" "g.172314576C>T" "" "" "" "DCAF17(NM_025000.3):c.723C>T (p.I241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171458066C>T" "" "likely benign" "" "0000274761" "0" "30" "2" "172314941" "172314941" "subst" "0.000308725" "01943" "DCAF17_000011" "g.172314941T>C" "" "" "" "DCAF17(NM_025000.3):c.792T>C (p.T264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171458431T>C" "" "likely benign" "" "0000327518" "0" "30" "2" "172195875" "172195875" "subst" "0.00161351" "01804" "METTL8_000002" "g.172195875G>A" "" "" "" "METTL8(NM_024770.3):c.425C>T (p.(Ser142Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171339365G>A" "" "likely benign" "" "0000510248" "0" "30" "2" "172291094" "172291094" "subst" "8.36638E-6" "01804" "DCAF17_000019" "g.172291094C>T" "" "" "" "DCAF17(NM_001164821.1):c.7C>T (p.(Pro3Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171434584C>T" "" "likely benign" "" "0000510250" "0" "30" "2" "172305188" "172305188" "dup" "0" "02329" "DCAF17_000021" "g.172305188dup" "" "" "" "DCAF17(NM_025000.4):c.322-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171448678dup" "" "likely benign" "" "0000510253" "0" "30" "2" "172325498" "172325498" "subst" "0.0106655" "02329" "DCAF17_000024" "g.172325498G>A" "" "" "" "DCAF17(NM_025000.4):c.939G>A (p.Q313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171468988G>A" "" "likely benign" "" "0000510254" "0" "30" "2" "172330424" "172330424" "subst" "0.000589815" "02329" "DCAF17_000025" "g.172330424T>C" "" "" "" "DCAF17(NM_025000.3):c.1030T>C (p.W344R), DCAF17(NM_025000.4):c.1030T>C (p.W344R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171473914T>C" "" "likely benign" "" "0000510255" "0" "50" "2" "172330448" "172330448" "subst" "0" "01943" "DCAF17_000026" "g.172330448T>C" "" "" "" "DCAF17(NM_025000.3):c.1054T>C (p.S352P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171473938T>C" "" "VUS" "" "0000510256" "0" "30" "2" "172330477" "172330477" "subst" "7.32786E-5" "01943" "DCAF17_000027" "g.172330477T>C" "" "" "" "DCAF17(NM_025000.3):c.1083T>C (p.N361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171473967T>C" "" "likely benign" "" "0000510257" "0" "50" "2" "172330478" "172330478" "subst" "0" "01943" "DCAF17_000028" "g.172330478C>T" "" "" "" "DCAF17(NM_025000.3):c.1084C>T (p.Q362*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171473968C>T" "" "VUS" "" "0000620774" "0" "50" "2" "172314567" "172314567" "subst" "0" "01943" "DCAF17_000029" "g.172314567C>G" "" "" "" "DCAF17(NM_025000.3):c.714C>G (p.F238L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171458057C>G" "" "VUS" "" "0000676114" "0" "50" "2" "172314497" "172314497" "subst" "0" "01943" "DCAF17_000030" "g.172314497C>T" "" "" "" "DCAF17(NM_025000.3):c.644C>T (p.T215I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676115" "0" "30" "2" "172314577" "172314577" "subst" "0.000744266" "01943" "DCAF17_000031" "g.172314577G>A" "" "" "" "DCAF17(NM_025000.3):c.724G>A (p.A242T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708827" "3" "90" "2" "172305305" "172305305" "del" "0" "00006" "DCAF17_000017" "g.172305305del" "" "{PMID:Alazami 2008:19026396}" "" "436delC" "not in 274 control chromosomes" "Germline" "yes" "" "0" "" "" "g.171448795del" "" "pathogenic (recessive)" "" "0000708828" "3" "90" "2" "172305305" "172305305" "del" "0" "00006" "DCAF17_000017" "g.172305305del" "" "{PMID:Alazami 2008:19026396}" "" "436delC" "not in 274 control chromosomes" "Germline" "" "" "0" "" "" "g.171448795del" "" "pathogenic (recessive)" "" "0000708829" "3" "90" "2" "172305305" "172305305" "del" "0" "00006" "DCAF17_000017" "g.172305305del" "" "{PMID:Alazami 2008:19026396}" "" "436delC" "not in 274 control chromosomes" "Germline" "" "" "0" "" "" "g.171448795del" "" "pathogenic (recessive)" "" "0000708830" "3" "90" "2" "172305305" "172305305" "del" "0" "00006" "DCAF17_000017" "g.172305305del" "" "{PMID:Alazami 2008:19026396}" "" "436delC" "not in 274 control chromosomes" "Germline" "" "" "0" "" "" "g.171448795del" "" "pathogenic (recessive)" "" "0000708831" "3" "90" "2" "172305305" "172305305" "del" "0" "00006" "DCAF17_000017" "g.172305305del" "" "{PMID:Alazami 2008:19026396}" "" "436delC" "not in 274 control chromosomes" "Germline" "" "" "0" "" "" "g.171448795del" "" "pathogenic (recessive)" "" "0000708832" "3" "90" "2" "172305305" "172305305" "del" "0" "00006" "DCAF17_000017" "g.172305305del" "" "{PMID:Alazami 2008:19026396}" "" "436delC" "not in 274 control chromosomes" "Germline" "" "" "0" "" "" "g.171448795del" "" "pathogenic (recessive)" "" "0000708833" "3" "90" "2" "172305305" "172305305" "del" "0" "00006" "DCAF17_000017" "g.172305305del" "" "{PMID:Alazami 2008:19026396}" "" "436delC" "not in 274 control chromosomes" "Germline" "" "" "0" "" "" "g.171448795del" "" "pathogenic (recessive)" "" "0000708834" "3" "90" "2" "172291137" "172291137" "del" "0" "00006" "DCAF17_000032" "g.172291137del" "" "{PMID:Alazami 2008:19026396}" "" "50delC" "not in 210 control chromosomes" "Germline" "" "" "0" "" "" "g.171434627del" "" "pathogenic (recessive)" "" "0000708835" "3" "90" "2" "172336708" "172336708" "subst" "0" "00006" "DCAF17_000038" "g.172336708G>T" "" "{PMID:Alazami 2008:19026396}" "" "" "not in 196 control chromosomes" "Germline" "yes" "" "0" "" "" "g.171480198G>T" "" "pathogenic (recessive)" "" "0000708836" "3" "90" "2" "172330491" "172330491" "subst" "0" "00006" "DCAF17_000037" "g.172330491T>G" "" "{PMID:Alazami 2008:19026396}" "" "" "not in 250 control chromosomes" "Germline" "yes" "" "0" "" "" "g.171473981T>G" "" "pathogenic (recessive)" "" "0000708837" "3" "90" "2" "172291590" "172291592" "delins" "0" "00006" "DCAF17_000033" "g.172291590_172291592delinsAA" "" "{PMID:Alazami 2010:20507343}" "" "127-3delTAGinsAA" "" "Germline" "" "" "0" "" "" "g.171435080_171435082delinsAA" "" "pathogenic (recessive)" "" "0000708838" "3" "90" "2" "172305210" "172305210" "subst" "0" "00006" "DCAF17_000034" "g.172305210C>A" "" "{PMID:Alazami 2010:20507343}" "" "" "" "Germline" "" "" "0" "" "" "g.171448700C>A" "" "pathogenic (recessive)" "" "0000708839" "3" "90" "2" "172305256" "172305256" "subst" "0" "00006" "DCAF17_000035" "g.172305256G>A" "" "{PMID:Alazami 2010:20507343}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171448746G>A" "" "pathogenic (recessive)" "" "0000708840" "3" "90" "2" "172305256" "172305256" "subst" "0" "00006" "DCAF17_000035" "g.172305256G>A" "" "{PMID:Alazami 2010:20507343}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171448746G>A" "" "pathogenic (recessive)" "" "0000708841" "3" "90" "2" "172305256" "172305256" "subst" "0" "00006" "DCAF17_000035" "g.172305256G>A" "" "{PMID:Alazami 2010:20507343}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171448746G>A" "" "pathogenic (recessive)" "" "0000708842" "3" "90" "2" "172325465" "172325465" "subst" "8.12988E-6" "00006" "DCAF17_000036" "g.172325465G>A" "" "{PMID:Alazami 2010:20507343}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171468955G>A" "" "pathogenic (recessive)" "" "0000708843" "3" "90" "2" "172325465" "172325465" "subst" "8.12988E-6" "00006" "DCAF17_000036" "g.172325465G>A" "" "{PMID:Alazami 2010:20507343}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171468955G>A" "" "pathogenic (recessive)" "" "0000717990" "0" "90" "2" "172291666" "172291667" "del" "0" "01943" "DCAF17_000039" "g.172291666_172291667del" "" "" "" "DCAF17(NM_025000.3):c.200_201delAT (p.Y67Ffs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717991" "0" "30" "2" "172314475" "172314475" "subst" "2.84502E-5" "01943" "DCAF17_000040" "g.172314475C>T" "" "" "" "DCAF17(NM_025000.3):c.628-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717992" "0" "30" "2" "172314483" "172314483" "subst" "1.21921E-5" "01943" "DCAF17_000041" "g.172314483T>C" "" "" "" "DCAF17(NM_025000.3):c.630T>C (p.I210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763212" "3" "90" "2" "172305305" "172305305" "del" "0" "00006" "DCAF17_000017" "g.172305305del" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.171448795del" "" "pathogenic" "ACMG" "0000799840" "0" "70" "2" "172291088" "172291088" "subst" "8.32224E-6" "01943" "DCAF17_000042" "g.172291088A>T" "" "" "" "DCAF17(NM_025000.3):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799841" "0" "30" "2" "172314493" "172314493" "subst" "4.87726E-5" "01943" "DCAF17_000043" "g.172314493G>A" "" "" "" "DCAF17(NM_025000.3):c.640G>A (p.V214I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849076" "0" "50" "2" "172291674" "172291674" "subst" "1.62473E-5" "01943" "DCAF17_000044" "g.172291674A>G" "" "" "" "DCAF17(NM_025000.3):c.208A>G (p.N70D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849077" "0" "30" "2" "172305224" "172305224" "subst" "0" "01943" "DCAF17_000045" "g.172305224T>C" "" "" "" "DCAF17(NM_025000.3):c.355T>C (p.S119P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849078" "0" "50" "2" "172330424" "172330424" "subst" "0.000589815" "01943" "DCAF17_000025" "g.172330424T>C" "" "" "" "DCAF17(NM_025000.3):c.1030T>C (p.W344R), DCAF17(NM_025000.4):c.1030T>C (p.W344R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849079" "0" "70" "2" "172337506" "172337507" "del" "0" "01943" "DCAF17_000046" "g.172337506_172337507del" "" "" "" "DCAF17(NM_025000.3):c.1445_1446delTT (p.F482*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000974470" "0" "30" "2" "172271253" "172271253" "del" "0" "01804" "DCAF17_000047" "g.172271253del" "" "" "" "METTL8(NM_001321157.2):c.9-4del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991830" "0" "50" "2" "172291650" "172291650" "subst" "0.000593019" "01804" "DCAF17_000003" "g.172291650G>A" "" "" "" "DCAF17(NM_025000.3):c.184G>A (p.E62K, p.(Glu62Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032526" "0" "50" "2" "172337580" "172337580" "subst" "0.000126135" "01804" "DCAF17_000048" "g.172337580T>C" "" "" "" "DCAF17(NM_025000.4):c.1519T>C (p.(Cys507Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DCAF17 ## Count = 66 "{{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}}" "0000175147" "00006145" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000247889" "00006145" "10" "999" "0" "999" "0" "c.999A>G" "r.(?)" "p.(Gln333=)" "" "0000249790" "00006145" "50" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Asn70Ser)" "" "0000249867" "00006145" "10" "999" "0" "999" "0" "c.999A>G" "r.(?)" "p.(Gln333=)" "" "0000253091" "00006145" "10" "999" "0" "999" "0" "c.999A>G" "r.(?)" "p.(Gln333=)" "" "0000256056" "00006145" "50" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000267273" "00006145" "10" "1267" "-7" "1267" "-7" "c.1267-7C>T" "r.(=)" "p.(=)" "" "0000267274" "00006145" "10" "150" "0" "150" "0" "c.150C>T" "r.(?)" "p.(Val50=)" "" "0000267275" "00006145" "10" "322" "-14" "322" "-14" "c.322-14C>T" "r.(=)" "p.(=)" "" "0000267276" "00006145" "10" "322" "-15" "322" "-15" "c.322-15dup" "r.(=)" "p.(=)" "" "0000267277" "00006145" "10" "982" "-918" "982" "-918" "c.982-918G>T" "r.(=)" "p.(=)" "" "0000268648" "00006145" "10" "1267" "-7" "1267" "-7" "c.1267-7C>T" "r.(=)" "p.(=)" "" "0000268649" "00006145" "30" "150" "0" "150" "0" "c.150C>T" "r.(?)" "p.(Val50=)" "" "0000268650" "00006145" "30" "322" "-15" "322" "-15" "c.322-15dup" "r.(=)" "p.(=)" "" "0000268651" "00006145" "30" "322" "-14" "322" "-14" "c.322-14C>T" "r.(=)" "p.(=)" "" "0000270680" "00006145" "30" "322" "-14" "322" "-14" "c.322-14C>T" "r.(=)" "p.(=)" "" "0000274753" "00006145" "10" "1267" "-7" "1267" "-7" "c.1267-7C>T" "r.(=)" "p.(=)" "" "0000274754" "00006145" "30" "1422" "3" "1422" "3" "c.1422+3G>A" "r.spl?" "p.?" "" "0000274755" "00006145" "10" "150" "0" "150" "0" "c.150C>T" "r.(?)" "p.(Val50=)" "" "0000274756" "00006145" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0000274757" "00006145" "10" "322" "-14" "322" "-14" "c.322-14C>T" "r.(=)" "p.(=)" "" "0000274758" "00006145" "30" "322" "-14" "322" "-14" "c.322-14delinsTT" "r.(=)" "p.(=)" "" "0000274759" "00006145" "90" "627" "1" "627" "1" "c.627+1G>A" "r.spl?" "p.?" "" "0000274760" "00006145" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Ile241=)" "" "0000274761" "00006145" "30" "792" "0" "792" "0" "c.792T>C" "r.(?)" "p.(Thr264=)" "" "0000327518" "00006145" "30" "-95213" "0" "-95213" "0" "c.-95213G>A" "r.(?)" "p.(=)" "" "0000510248" "00006145" "30" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Pro3Ser)" "" "0000510250" "00006145" "30" "322" "-3" "322" "-3" "c.322-3dup" "r.spl?" "p.?" "" "0000510253" "00006145" "30" "939" "0" "939" "0" "c.939G>A" "r.(?)" "p.(Gln313=)" "" "0000510254" "00006145" "30" "1030" "0" "1030" "0" "c.1030T>C" "r.(?)" "p.(Trp344Arg)" "" "0000510255" "00006145" "50" "1054" "0" "1054" "0" "c.1054T>C" "r.(?)" "p.(Ser352Pro)" "" "0000510256" "00006145" "30" "1083" "0" "1083" "0" "c.1083T>C" "r.(?)" "p.(Asn361=)" "" "0000510257" "00006145" "50" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362Ter)" "" "0000620774" "00006145" "50" "714" "0" "714" "0" "c.714C>G" "r.(?)" "p.(Phe238Leu)" "" "0000676114" "00006145" "50" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Thr215Ile)" "" "0000676115" "00006145" "30" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Ala242Thr)" "" "0000708827" "00006145" "90" "436" "0" "436" "0" "c.436del" "r.(?)" "p.(Ala147Hisfs*9)" "" "0000708828" "00006145" "90" "436" "0" "436" "0" "c.436del" "r.(?)" "p.(Ala147Hisfs*9)" "" "0000708829" "00006145" "90" "436" "0" "436" "0" "c.436del" "r.(?)" "p.(Ala147Hisfs*9)" "" "0000708830" "00006145" "90" "436" "0" "436" "0" "c.436del" "r.(?)" "p.(Ala147Hisfs*9)" "" "0000708831" "00006145" "90" "436" "0" "436" "0" "c.436del" "r.(?)" "p.(Ala147Hisfs*9)" "" "0000708832" "00006145" "90" "436" "0" "436" "0" "c.436del" "r.(?)" "p.(Ala147Hisfs*9)" "" "0000708833" "00006145" "90" "436" "0" "436" "0" "c.436del" "r.(?)" "p.(Ala147Hisfs*9)" "" "0000708834" "00006145" "90" "50" "0" "50" "0" "c.50del" "r.(?)" "p.(Ala17Glyfs*43)" "" "0000708835" "00006145" "90" "1422" "5" "1422" "5" "c.1422+5G>T" "r.spl" "p.?" "14i" "0000708836" "00006145" "90" "1091" "6" "1091" "6" "c.1091+6T>G" "r.982_1091del" "p.Ala328Serfs*6" "10i" "0000708837" "00006145" "90" "127" "-3" "127" "-1" "c.127-3_127-1delinsAA" "r.spl" "p.?" "1i" "0000708838" "00006145" "90" "341" "0" "341" "0" "c.341C>A" "r.(?)" "p.(Ser114*)" "" "0000708839" "00006145" "90" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Trp129*)" "" "0000708840" "00006145" "90" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Trp129*)" "" "0000708841" "00006145" "90" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Trp129*)" "" "0000708842" "00006145" "90" "906" "0" "906" "0" "c.906G>A" "r.(?)" "p.(Trp302*)" "" "0000708843" "00006145" "90" "906" "0" "906" "0" "c.906G>A" "r.(?)" "p.(Trp302*)" "" "0000717990" "00006145" "90" "200" "0" "201" "0" "c.200_201del" "r.(?)" "p.(Tyr67Phefs*2)" "" "0000717991" "00006145" "30" "628" "-6" "628" "-6" "c.628-6C>T" "r.(=)" "p.(=)" "" "0000717992" "00006145" "30" "630" "0" "630" "0" "c.630T>C" "r.(?)" "p.(Ile210=)" "" "0000763212" "00006145" "90" "436" "0" "436" "0" "c.436del" "r.(?)" "p.(Ala147Hisfs*9)" "" "0000799840" "00006145" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000799841" "00006145" "30" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Val214Ile)" "" "0000849076" "00006145" "50" "208" "0" "208" "0" "c.208A>G" "r.(?)" "p.(Asn70Asp)" "" "0000849077" "00006145" "30" "355" "0" "355" "0" "c.355T>C" "r.(?)" "p.(Ser119Pro)" "" "0000849078" "00006145" "50" "1030" "0" "1030" "0" "c.1030T>C" "r.(?)" "p.(Trp344Arg)" "" "0000849079" "00006145" "70" "1445" "0" "1446" "0" "c.1445_1446del" "r.(?)" "p.(Phe482*)" "" "0000974470" "00006145" "30" "-19835" "0" "-19835" "0" "c.-19835del" "r.(?)" "p.(=)" "" "0000991830" "00006145" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0001032526" "00006145" "50" "1519" "0" "1519" "0" "c.1519T>C" "r.(?)" "p.(Cys507Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000109083" "0000175147" "0000325689" "0000708827" "0000325690" "0000708828" "0000325691" "0000708829" "0000325692" "0000708830" "0000325693" "0000708831" "0000325694" "0000708832" "0000325695" "0000708833" "0000325696" "0000708834" "0000325697" "0000708835" "0000325698" "0000708836" "0000325699" "0000708837" "0000325700" "0000708838" "0000325701" "0000708839" "0000325702" "0000708840" "0000325703" "0000708841" "0000325704" "0000708842" "0000325705" "0000708843" "0000362838" "0000763212"