### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CFHR1) # 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}}" "CFHR1" "complement factor H-related 1" "1" "q32" "unknown" "NC_000001.10" "UD_132085325572" "" "https://www.LOVD.nl/CFHR1" "" "1" "4888" "3078" "134371" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CFHR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-03-03 08:52:05" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005035" "CFHR1" "complement factor H-related 1" "001" "NM_002113.2" "" "NP_002104.2" "" "" "" "-114" "1183" "993" "196788861" "196801319" "" "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" "00395" "ARMD1" "macular degeneration, age-related, type 1 (ARMD-1)" "AD" "603075" "" "" "" "00006" "2014-06-02 08:48:10" "00006" "2021-12-10 21:51:32" "01838" "AHUS1" "hemolytic-uremic syndrome, atypical, type 1 (AHUS1)" "AD;AR" "235400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-03-10 15:25:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CFHR1" "00395" "CFHR1" "01838" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00414340" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP7" "00414457" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP124" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00414340" "00198" "00414457" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00395, 01838 ## Count = 2 "{{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}}" "0000306175" "00198" "00414340" "00000" "Familial, autosomal dominant" "9y" "" "" "" "" "" "" "" "" "" "Hemolytic Uremic syndrome susceptibility to 1" "" "" "0000306292" "00198" "00414457" "00000" "Familial, autosomal dominant" "7y" "" "" "" "" "" "" "" "" "" "Hemolytic Uremic syndrome susceptibility to 1" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000415620" "00414340" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415737" "00414457" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000415620" "CFHR1" "0000415737" "CFHR1" ## 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 = 34 "{{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}}" "0000250995" "0" "10" "1" "196801078" "196801078" "subst" "0.43772" "02326" "CFHR1_000004" "g.196801078A>T" "" "" "" "CFHR1(NM_002113.2):c.942A>T (p.R314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196831948A>T" "" "benign" "" "0000252009" "0" "30" "1" "196801143" "196801143" "subst" "4.75581E-5" "02326" "CFHR1_000005" "g.196801143A>G" "" "" "" "CFHR1(NM_002113.2):c.*14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196832013A>G" "" "likely benign" "" "0000270045" "0" "10" "1" "196799691" "196799691" "subst" "0.12099" "02326" "CFHR1_000001" "g.196799691G>A" "" "" "" "CFHR1(NM_002113.2):c.669G>A (p.P223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196830561G>A" "" "benign" "" "0000270046" "0" "10" "1" "196801005" "196801005" "subst" "0" "02326" "CFHR1_000002" "g.196801005T>C" "" "" "" "CFHR1(NM_002113.2):c.869T>C (p.L290S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196831875T>C" "" "benign" "" "0000270047" "0" "10" "1" "196801023" "196801023" "subst" "8.61111E-6" "02326" "CFHR1_000003" "g.196801023C>T" "" "" "" "CFHR1(NM_002113.2):c.887C>T (p.A296V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196831893C>T" "" "benign" "" "0000340680" "0" "10" "1" "196801042" "196801042" "subst" "0.458022" "02327" "CFHR1_000010" "g.196801042G>T" "" "" "" "CFHR1(NM_002113.2):c.906G>T (p.R302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196831912G>T" "" "benign" "" "0000340682" "0" "10" "1" "196801078" "196801078" "subst" "0.43772" "02327" "CFHR1_000004" "g.196801078A>T" "" "" "" "CFHR1(NM_002113.2):c.942A>T (p.R314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196831948A>T" "" "benign" "" "0000340905" "0" "10" "1" "196799691" "196799691" "subst" "0.12099" "02327" "CFHR1_000001" "g.196799691G>A" "" "" "" "CFHR1(NM_002113.2):c.669G>A (p.P223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196830561G>A" "" "benign" "" "0000340994" "0" "10" "1" "196797357" "196797357" "subst" "0.158583" "02327" "CFHR1_000009" "g.196797357A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196828227A>G" "" "benign" "" "0000345187" "0" "10" "1" "196797292" "196797292" "subst" "0.11306" "02327" "CFHR1_000008" "g.196797292G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196828162G>C" "" "benign" "" "0000346383" "0" "10" "1" "196797238" "196797238" "subst" "0.295322" "02327" "CFHR1_000006" "g.196797238C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196828108C>T" "" "benign" "" "0000346923" "0" "10" "1" "196797244" "196797244" "subst" "0.232349" "02327" "CFHR1_000007" "g.196797244C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196828114C>G" "" "benign" "" "0000504573" "0" "30" "1" "196794653" "196794653" "subst" "0.00279286" "02327" "CFHR1_000011" "g.196794653T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196825523T>C" "" "likely benign" "" "0000504574" "0" "50" "1" "196795998" "196796002" "del" "0" "01804" "CFHR1_000012" "g.196795998_196796002del" "" "" "" "CFHR1(NM_002113.2):c.293_297del (p.(Glu98ValfsTer9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196826868_196826872del" "" "VUS" "" "0000504575" "0" "30" "1" "196797195" "196797195" "subst" "0" "02326" "CFHR1_000013" "g.196797195C>T" "" "" "" "CFHR1(NM_002113.2):c.431-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196828065C>T" "" "likely benign" "" "0000504576" "0" "30" "1" "196797216" "196797216" "subst" "0.00634668" "02327" "CFHR1_000014" "g.196797216T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196828086T>C" "" "likely benign" "" "0000504577" "0" "30" "1" "196799746" "196799746" "subst" "0.00709079" "02327" "CFHR1_000015" "g.196799746C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196830616C>G" "" "likely benign" "" "0000504578" "0" "10" "1" "196801042" "196801042" "subst" "0.458022" "02326" "CFHR1_000010" "g.196801042G>T" "" "" "" "CFHR1(NM_002113.2):c.906G>T (p.R302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196831912G>T" "" "benign" "" "0000605036" "0" "50" "1" "196794765" "196794765" "subst" "5.17188E-5" "02325" "CFHR1_000016" "g.196794765A>G" "" "" "" "CFHR1(NM_002113.2):c.217A>G (p.T73A), CFHR1(NM_002113.3):c.217A>G (p.T73A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196825635A>G" "" "VUS" "" "0000605037" "0" "30" "1" "196801013" "196801013" "subst" "4.30571E-6" "01943" "CFHR1_000018" "g.196801013G>A" "" "" "" "CFHR1(NM_002113.2):c.877G>A (p.G293S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196831883G>A" "" "likely benign" "" "0000620459" "0" "30" "1" "196797287" "196797287" "subst" "1.61535E-5" "02326" "CFHR1_000017" "g.196797287G>A" "" "" "" "CFHR1(NM_002113.2):c.518G>A (p.R173H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196828157G>A" "" "likely benign" "" "0000675578" "0" "30" "1" "196799636" "196799636" "subst" "0.00044745" "02326" "CFHR1_000019" "g.196799636C>T" "" "" "" "CFHR1(NM_002113.2):c.614C>T (p.T205M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687966" "0" "30" "1" "196797234" "196797234" "subst" "5.32621E-5" "01943" "CFHR1_000020" "g.196797234T>G" "" "" "" "CFHR1(NM_002113.2):c.465T>G (p.N155K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798976" "0" "30" "1" "196794765" "196794765" "subst" "5.17188E-5" "01943" "CFHR1_000016" "g.196794765A>G" "" "" "" "CFHR1(NM_002113.2):c.217A>G (p.T73A), CFHR1(NM_002113.3):c.217A>G (p.T73A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848443" "0" "50" "1" "196799627" "196799627" "subst" "0" "02327" "CFHR1_000022" "g.196799627T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857194" "0" "70" "1" "196801089" "196801089" "subst" "3.44721E-5" "02327" "CFHR1_000023" "g.196801089G>A" "" "" "" "CFHR1(NM_002113.3):c.953G>A (p.(Trp318*), p.W318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000873446" "3" "70" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "107" "{PMID:Sun 2018:30076350}" "" "CFHR1(NM_002113.2)and CFHR3(NM_021023.5):whole genes deletion" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000873616" "3" "70" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "224" "{PMID:Sun 2018:30076350}" "" "CFHR1(NM_002113.2):CDS2-6 deletion;CFHR3(NM_021023.5):Whole gene duplication" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000883007" "0" "50" "1" "196801089" "196801089" "subst" "3.44721E-5" "02325" "CFHR1_000023" "g.196801089G>A" "" "" "" "CFHR1(NM_002113.3):c.953G>A (p.(Trp318*), p.W318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923034" "0" "30" "1" "196799796" "196799796" "subst" "0.0011878" "02327" "CFHR1_000025" "g.196799796A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013260" "0" "50" "1" "196799636" "196799636" "subst" "0.00044745" "02327" "CFHR1_000019" "g.196799636C>T" "" "" "" "CFHR1(NM_002113.2):c.614C>T (p.T205M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031559" "0" "50" "1" "196788993" "196788993" "del" "0" "01804" "CFHR1_000026" "g.196788993del" "" "" "" "CFHR1(NM_002113.3):c.19del (p.(Val7Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031560" "0" "50" "1" "196801089" "196801089" "subst" "3.44721E-5" "01804" "CFHR1_000023" "g.196801089G>A" "" "" "" "CFHR1(NM_002113.3):c.953G>A (p.(Trp318*), p.W318*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045626" "0" "50" "1" "196801046" "196801046" "subst" "0.000249727" "02327" "CFHR1_000027" "g.196801046T>C" "" "" "" "" "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 CFHR1 ## Count = 34 "{{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}}" "0000250995" "00005035" "10" "942" "0" "942" "0" "c.942A>T" "r.(?)" "p.(Arg314=)" "" "0000252009" "00005035" "30" "1007" "0" "1007" "0" "c.*14A>G" "r.(=)" "p.(=)" "" "0000270045" "00005035" "10" "669" "0" "669" "0" "c.669G>A" "r.(?)" "p.(Pro223=)" "" "0000270046" "00005035" "10" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Leu290Ser)" "" "0000270047" "00005035" "10" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Ala296Val)" "" "0000340680" "00005035" "10" "906" "0" "906" "0" "c.906G>T" "r.(?)" "p.(Arg302=)" "" "0000340682" "00005035" "10" "942" "0" "942" "0" "c.942A>T" "r.(?)" "p.(Arg314=)" "" "0000340905" "00005035" "10" "669" "0" "669" "0" "c.669G>A" "r.(?)" "p.(Pro223=)" "" "0000340994" "00005035" "10" "588" "0" "588" "0" "c.588A>G" "r.(?)" "p.(Thr196=)" "" "0000345187" "00005035" "10" "523" "0" "523" "0" "c.523G>C" "r.(?)" "p.(Glu175Gln)" "" "0000346383" "00005035" "10" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(His157Tyr)" "" "0000346923" "00005035" "10" "475" "0" "475" "0" "c.475C>G" "r.(?)" "p.(Leu159Val)" "" "0000504573" "00005035" "30" "105" "0" "105" "0" "c.105T>C" "r.(?)" "p.(Asp35=)" "" "0000504574" "00005035" "50" "293" "0" "297" "0" "c.293_297del" "r.(?)" "p.(Glu98ValfsTer9)" "" "0000504575" "00005035" "30" "431" "-5" "431" "-5" "c.431-5C>T" "r.spl?" "p.?" "" "0000504576" "00005035" "30" "447" "0" "447" "0" "c.447T>C" "r.(?)" "p.(Asn149=)" "" "0000504577" "00005035" "30" "724" "0" "724" "0" "c.724C>G" "r.(?)" "p.(Gln242Glu)" "" "0000504578" "00005035" "10" "906" "0" "906" "0" "c.906G>T" "r.(?)" "p.(Arg302=)" "" "0000605036" "00005035" "50" "217" "0" "217" "0" "c.217A>G" "r.(?)" "p.(Thr73Ala)" "" "0000605037" "00005035" "30" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Gly293Ser)" "" "0000620459" "00005035" "30" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173His)" "" "0000675578" "00005035" "30" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Thr205Met)" "" "0000687966" "00005035" "30" "465" "0" "465" "0" "c.465T>G" "r.(?)" "p.(Asn155Lys)" "" "0000798976" "00005035" "30" "217" "0" "217" "0" "c.217A>G" "r.(?)" "p.(Thr73Ala)" "" "0000848443" "00005035" "50" "608" "-3" "608" "-3" "c.608-3T>C" "r.spl?" "p.?" "" "0000857194" "00005035" "70" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Trp318*)" "" "0000873446" "00005035" "70" "-114" "0" "1183" "0" "c.(?_-114)_(*190_?)del" "r.0" "p.0" "" "0000873616" "00005035" "70" "" "0" "" "0" "c.(58+1_59-1)_(*190_?)" "r.(?)" "p.(?)" "" "0000883007" "00005035" "50" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Trp318*)" "" "0000923034" "00005035" "30" "774" "0" "774" "0" "c.774A>T" "r.(?)" "p.(Glu258Asp)" "" "0001013260" "00005035" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Thr205Met)" "" "0001031559" "00005035" "50" "19" "0" "19" "0" "c.19del" "r.(?)" "p.(Val7*)" "" "0001031560" "00005035" "50" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Trp318*)" "" "0001045626" "00005035" "50" "910" "0" "910" "0" "c.910T>C" "r.(?)" "p.(Tyr304His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000415620" "0000873446" "0000415737" "0000873616"