### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CD36) # 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}}" "CD36" "CD36 molecule (thrombospondin receptor)" "7" "q11.2" "unknown" "NC_000007.13" "UD_132118378538" "" "https://www.LOVD.nl/CD36" "" "1" "1663" "948" "173510" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-14 09:29:49" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00004704" "CD36" "transcript variant 2" "001" "NM_001001547.2" "" "NP_001001547.1" "" "" "" "-375" "1692" "1419" "80231504" "80303736" "" "0000-00-00 00:00:00" "" "" "00026039" "CD36" "transcript variant 1" "005" "NM_001001548.2" "" "NP_001001548.1" "" "" "RefSeq select" "-414" "4313" "1419" "80267832" "80308593" "00006" "2025-12-14 09:29:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00309" "MLRS" "malaria, susceptibility to" "" "611162" "" "" "" "00006" "2014-01-24 11:34:13" "00006" "2021-12-14 08:45:33" "02758" "-" "deficiency, platelet glycoprotein IV" "AR" "608404" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02995" "CHDS7" "heart, coronary, disease, susceptibility to, type 7 (CHDS-7)" "" "610938" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06994" "GINGF" "fibromatosis, gingival" "" "" "" "" "" "00006" "2023-01-05 14:47:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CD36" "00309" "CD36" "02758" "CD36" "02995" ## 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}}" "00294502" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00428663" "" "" "" "3" "" "00006" "{PMID:Machado 2022:35665929}, {DOI:Machado 2022:10.1002/JPER.22-0219}" "3-generation family, 3 affected (2F, M), edentulous carrier grandfather" "F;M" "no" "Brazil" "" "0" "" "" "" "FamB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00294502" "00198" "00428663" "06994" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00309, 02758, 02995, 06994 ## Count = 1 "{{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}}" "0000319568" "06994" "00428663" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "gingival fibromatosis" "" ## 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}}" "0000295670" "00294502" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000430075" "00428663" "1" "00006" "00006" "2023-01-05 15:48:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 31 "{{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}}" "0000249117" "0" "10" "7" "80290369" "80290369" "subst" "0.968772" "02325" "CD36_000004" "g.80290369A>G" "" "" "" "CD36(NM_001001548.3):c.282-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80661053A>G" "" "benign" "" "0000255376" "0" "70" "7" "80292304" "80292304" "subst" "0.00011826" "01943" "CD36_000006" "g.80292304A>G" "" "" "" "CD36(NM_001001548.2):c.430-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80662988A>G" "" "likely pathogenic" "" "0000268059" "0" "90" "7" "80285955" "80285955" "subst" "0.000158782" "02329" "CD36_000001" "g.80285955C>T" "" "" "" "CD36(NM_001001548.3):c.220C>T (p.Q74*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80656639C>T" "" "pathogenic" "" "0000272870" "0" "90" "7" "80302110" "80302110" "del" "0.000392295" "01943" "CD36_000008" "g.80302110del" "" "" "" "CD36(NM_001001547.3):c.1150delG (p.A384Qfs*19), CD36(NM_001001548.2):c.1150delG (p.A384Qfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80672794del" "" "pathogenic" "" "0000272872" "0" "90" "7" "80303459" "80303463" "del" "0" "01943" "CD36_000010" "g.80303459_80303463del" "" "" "" "CD36(NM_001001548.2):c.1415_1419delAATAA (p.K472Nfs*80)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80674143_80674147del" "" "pathogenic" "" "0000272873" "0" "90" "7" "80286003" "80286003" "subst" "0.00113259" "01943" "CD36_000002" "g.80286003C>T" "" "" "" "CD36(NM_001001548.2):c.268C>T (p.P90S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80656687C>T" "" "pathogenic" "" "0000272874" "0" "50" "7" "80286010" "80286010" "subst" "0.000110012" "01943" "CD36_000003" "g.80286010C>G" "" "" "" "CD36(NM_001001548.2):c.275C>G (p.T92R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80656694C>G" "" "VUS" "" "0000272875" "0" "30" "7" "80290473" "80290473" "subst" "2.03527E-5" "01943" "CD36_000005" "g.80290473C>G" "" "" "" "CD36(NM_001001548.2):c.376C>G (p.L126V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80661157C>G" "" "likely benign" "" "0000338787" "0" "50" "7" "80292305" "80292305" "subst" "0.000114171" "02327" "CD36_000012" "g.80292305G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80662989G>C" "" "VUS" "" "0000348692" "0" "90" "7" "80290477" "80290477" "subst" "6.51291E-5" "02327" "CD36_000011" "g.80290477C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80661161C>G" "" "pathogenic" "" "0000532707" "0" "90" "7" "80292323" "80292326" "dup" "0" "01943" "CD36_000013" "g.80292323_80292326dup" "" "" "" "CD36(NM_001001548.2):c.447_450dupTCAA (p.N151Sfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80663007_80663010dup" "" "pathogenic" "" "0000532708" "0" "50" "7" "80293761" "80293761" "subst" "0.000297243" "02327" "CD36_000014" "g.80293761G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80664445G>A" "" "VUS" "" "0000532709" "0" "50" "7" "80302116" "80302116" "subst" "0.000543585" "01943" "CD36_000015" "g.80302116C>T" "" "" "" "CD36(NM_001001547.3):c.1156C>T (p.R386W), CD36(NM_001001548.2):c.1156C>T (p.R386W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80672800C>T" "" "VUS" "" "0000532710" "0" "30" "7" "80302686" "80302686" "subst" "6.54477E-5" "02326" "CD36_000016" "g.80302686G>A" "" "" "" "CD36(NM_001001548.2):c.1215G>A (p.L405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80673370G>A" "" "likely benign" "" "0000532711" "0" "70" "7" "80302729" "80302729" "dup" "0" "01943" "CD36_000017" "g.80302729dup" "" "" "" "CD36(NM_001001548.2):c.1254+4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80673413dup" "" "likely pathogenic" "" "0000611207" "0" "70" "7" "80303329" "80303335" "dup" "0" "02327" "CD36_000019" "g.80303329_80303335dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80674013_80674019dup" "" "likely pathogenic" "" "0000621926" "0" "70" "7" "80303298" "80303298" "subst" "2.85945E-5" "01943" "CD36_000018" "g.80303298G>A" "" "" "" "CD36(NM_001001548.2):c.1255-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80673982G>A" "" "likely pathogenic" "" "0000652359" "1" "90" "7" "80286003" "80286003" "subst" "0.00113259" "03575" "CD36_000002" "g.80286003C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs75326924}" "Germline" "" "rs75326924" "0" "" "" "g.80656687C>T" "" "pathogenic" "" "0000690075" "0" "50" "7" "80286013" "80286013" "subst" "0" "01943" "CD36_000020" "g.80286013A>G" "" "" "" "CD36(NM_001001548.2):c.278A>G (p.Y93C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690076" "0" "50" "7" "80303298" "80303298" "subst" "2.85945E-5" "01943" "CD36_000021" "g.80303298G>C" "" "" "" "CD36(NM_001001548.2):c.1255-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721558" "0" "50" "7" "80299332" "80299332" "subst" "2.44445E-5" "02327" "CD36_000022" "g.80299332T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721559" "0" "90" "7" "80301278" "80301282" "dup" "0" "01943" "CD36_000023" "g.80301278_80301282dup" "" "" "" "CD36(NM_001001548.2):c.1047_1051dupAAGTC (p.P351Qfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721560" "0" "90" "7" "80301310" "80301310" "subst" "0.000203634" "01943" "CD36_000024" "g.80301310T>G" "" "" "" "CD36(NM_001001548.2):c.1079T>G (p.L360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721561" "0" "50" "7" "80301310" "80301310" "subst" "0.000203634" "02327" "CD36_000024" "g.80301310T>G" "" "" "" "CD36(NM_001001548.2):c.1079T>G (p.L360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803256" "0" "30" "7" "80302686" "80302686" "subst" "6.54477E-5" "01943" "CD36_000016" "g.80302686G>A" "" "" "" "CD36(NM_001001548.2):c.1215G>A (p.L405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860914" "0" "90" "7" "80302110" "80302110" "del" "0.000392295" "02326" "CD36_000008" "g.80302110del" "" "" "" "CD36(NM_001001547.3):c.1150delG (p.A384Qfs*19), CD36(NM_001001548.2):c.1150delG (p.A384Qfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887983" "0" "70" "7" "80302116" "80302116" "subst" "0.000543585" "02326" "CD36_000015" "g.80302116C>T" "" "" "" "CD36(NM_001001547.3):c.1156C>T (p.R386W), CD36(NM_001001548.2):c.1156C>T (p.R386W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000909803" "21" "70" "7" "80302093" "80302093" "subst" "0.000577585" "00006" "CD36_000025" "g.80302093G>T" "" "{PMID:Machado 2022:35665929}, {DOI:Machado 2022:10.1002/JPER.22-0219}" "" "" "edentulous carrier grandfather; candidate disease gene" "Germline" "" "" "0" "" "" "g.80672777G>T" "" "VUS (!)" "" "0000924759" "0" "30" "7" "80300354" "80300354" "subst" "3.66023E-5" "02326" "CD36_000026" "g.80300354G>C" "" "" "" "CD36(NM_001001547.3):c.880G>C (p.V294L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948948" "0" "30" "7" "80300493" "80300493" "subst" "0.000102657" "02326" "CD36_000027" "g.80300493C>A" "" "" "" "CD36(NM_001001547.3):c.1006+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036540" "0" "50" "7" "80299326" "80299326" "subst" "8.14525E-5" "01804" "CD36_000028" "g.80299326C>A" "" "" "" "CD36(NM_001001548.2):c.806C>A (p.(Ser269Tyr))" "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 CD36 ## Count = 61 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000249117" "00004704" "10" "282" "-10" "282" "-10" "c.282-10A>G" "r.(=)" "p.(=)" "" "" "0000249117" "00026039" "10" "282" "-10" "282" "-10" "c.282-10A>G" "r.(=)" "p.(=)" "" "" "0000255376" "00004704" "70" "430" "-2" "430" "-2" "c.430-2A>G" "r.spl?" "p.?" "" "" "0000255376" "00026039" "70" "430" "-2" "430" "-2" "c.430-2A>G" "r.spl?" "p.?" "" "" "0000268059" "00004704" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74Ter)" "" "" "0000268059" "00026039" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74Ter)" "" "" "0000272870" "00004704" "90" "1150" "0" "1150" "0" "c.1150del" "r.(?)" "p.(Ala384GlnfsTer19)" "" "" "0000272870" "00026039" "90" "1150" "0" "1150" "0" "c.1150del" "r.(?)" "p.(Ala384GlnfsTer19)" "" "" "0000272872" "00004704" "90" "1415" "0" "1419" "0" "c.1415_1419del" "r.(?)" "p.(Lys472SerfsTer35)" "" "" "0000272872" "00026039" "90" "1415" "0" "1419" "0" "c.1415_1419del" "r.(?)" "p.(Lys472AsnfsTer80)" "" "" "0000272873" "00004704" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Pro90Ser)" "" "" "0000272873" "00026039" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Pro90Ser)" "" "" "0000272874" "00004704" "50" "275" "0" "275" "0" "c.275C>G" "r.(?)" "p.(Thr92Arg)" "" "" "0000272874" "00026039" "50" "275" "0" "275" "0" "c.275C>G" "r.(?)" "p.(Thr92Arg)" "" "" "0000272875" "00004704" "30" "376" "0" "376" "0" "c.376C>G" "r.(?)" "p.(Leu126Val)" "" "" "0000272875" "00026039" "30" "376" "0" "376" "0" "c.376C>G" "r.(?)" "p.(Leu126Val)" "" "" "0000338787" "00004704" "50" "430" "-1" "430" "-1" "c.430-1G>C" "r.spl?" "p.?" "" "" "0000338787" "00026039" "50" "430" "-1" "430" "-1" "c.430-1G>C" "r.spl?" "p.?" "" "" "0000348692" "00004704" "90" "380" "0" "380" "0" "c.380C>G" "r.(?)" "p.(Ser127Ter)" "" "" "0000348692" "00026039" "90" "380" "0" "380" "0" "c.380C>G" "r.(?)" "p.(Ser127Ter)" "" "" "0000532707" "00004704" "90" "447" "0" "450" "0" "c.447_450dup" "r.(?)" "p.(Asn151SerfsTer14)" "" "" "0000532707" "00026039" "90" "447" "0" "450" "0" "c.447_450dup" "r.(?)" "p.(Asn151SerfsTer14)" "" "" "0000532708" "00004704" "50" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Gly217Arg)" "" "" "0000532708" "00026039" "50" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Gly217Arg)" "" "" "0000532709" "00004704" "50" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "" "0000532709" "00026039" "50" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "" "0000532710" "00004704" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Leu405=)" "" "" "0000532710" "00026039" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Leu405=)" "" "" "0000532711" "00004704" "70" "1254" "4" "1254" "4" "c.1254+4dup" "r.spl?" "p.?" "" "" "0000532711" "00026039" "70" "1254" "4" "1254" "4" "c.1254+4dup" "r.spl?" "p.?" "" "" "0000611207" "00004704" "70" "1285" "0" "1291" "0" "c.1285_1291dup" "r.(?)" "p.(Arg431AsnfsTer80)" "" "" "0000611207" "00026039" "70" "1285" "0" "1291" "0" "c.1285_1291dup" "r.(?)" "p.(Arg431AsnfsTer125)" "" "" "0000621926" "00004704" "70" "1255" "-1" "1255" "-1" "c.1255-1G>A" "r.spl?" "p.?" "" "" "0000621926" "00026039" "70" "1255" "-1" "1255" "-1" "c.1255-1G>A" "r.spl?" "p.?" "" "" "0000652359" "00004704" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Pro90Ser)" "" "" "0000652359" "00026039" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Pro90Ser)" "" "" "0000690075" "00004704" "50" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Tyr93Cys)" "" "" "0000690075" "00026039" "50" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Tyr93Cys)" "" "" "0000690076" "00004704" "50" "1255" "-1" "1255" "-1" "c.1255-1G>C" "r.spl?" "p.?" "" "" "0000690076" "00026039" "50" "1255" "-1" "1255" "-1" "c.1255-1G>C" "r.spl?" "p.?" "" "" "0000721558" "00004704" "50" "812" "0" "812" "0" "c.812T>C" "r.(?)" "p.(Ile271Thr)" "" "" "0000721558" "00026039" "50" "812" "0" "812" "0" "c.812T>C" "r.(?)" "p.(Ile271Thr)" "" "" "0000721559" "00004704" "90" "1047" "0" "1051" "0" "c.1047_1051dup" "r.(?)" "p.(Pro351Glnfs*12)" "" "" "0000721559" "00026039" "90" "1047" "0" "1051" "0" "c.1047_1051dup" "r.(?)" "p.(Pro351Glnfs*12)" "" "" "0000721560" "00004704" "90" "1079" "0" "1079" "0" "c.1079T>G" "r.(?)" "p.(Leu360*)" "" "" "0000721560" "00026039" "90" "1079" "0" "1079" "0" "c.1079T>G" "r.(?)" "p.(Leu360*)" "" "" "0000721561" "00004704" "50" "1079" "0" "1079" "0" "c.1079T>G" "r.(?)" "p.(Leu360*)" "" "" "0000721561" "00026039" "50" "1079" "0" "1079" "0" "c.1079T>G" "r.(?)" "p.(Leu360*)" "" "" "0000803256" "00004704" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Leu405=)" "" "" "0000803256" "00026039" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Leu405=)" "" "" "0000860914" "00004704" "90" "1150" "0" "1150" "0" "c.1150del" "r.(?)" "p.(Ala384GlnfsTer19)" "" "" "0000860914" "00026039" "90" "1150" "0" "1150" "0" "c.1150del" "r.(?)" "p.(Ala384GlnfsTer19)" "" "" "0000887983" "00004704" "70" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "" "0000887983" "00026039" "70" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "" "0000909803" "00004704" "70" "1133" "0" "1133" "0" "c.1133G>T" "r.(?)" "p.(Gly378Val)" "" "" "0000924759" "00004704" "30" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Val294Leu)" "" "" "0000924759" "00026039" "30" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Val294Leu)" "" "" "0000948948" "00004704" "30" "1006" "13" "1006" "13" "c.1006+13C>A" "r.(=)" "p.(=)" "" "" "0000948948" "00026039" "30" "1006" "13" "1006" "13" "c.1006+13C>A" "r.(=)" "p.(=)" "" "" "0001036540" "00004704" "50" "806" "0" "806" "0" "c.806C>A" "r.(?)" "p.(Ser269Tyr)" "" "" "0001036540" "00026039" "50" "806" "0" "806" "0" "c.806C>A" "r.(?)" "p.(Ser269Tyr)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000295670" "0000652359" "0000430075" "0000909803"