### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBXO38) # 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}}" "FBXO38" "F-box protein 38" "5" "q33.1" "unknown" "NC_000005.9" "UD_132612417155" "" "https://www.LOVD.nl/FBXO38" "" "1" "28844" "81545" "608533" "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/FBXO38_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-20 21:45:10" "00000" "2025-05-05 21:14:00" ## 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}}" "00007813" "FBXO38" "transcript variant 1" "002" "NM_030793.3" "" "NP_110420.3" "" "" "" "-120" "4031" "3342" "147763546" "147822399" "" "0000-00-00 00:00:00" "" "" "00025696" "FBXO38" "transcript variant 1" "001" "NM_030793.4" "" "NP_110420.3" "" "" "" "-168" "4031" "3342" "147763498" "147822399" "00006" "2022-02-20 21:45:50" "" "" ## 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" "02618" "COPD" "pulmonary disease, obstructive, chronic, susceptibility to (COPD)" "" "606963" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "04012" "HMN2D" "neuropathy, motor, distal, hereditary, type 2D (HMN-2D)" "AD" "615575" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FBXO38" "04012" ## 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}}" "00293777" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00403692" "" "" "" "1" "" "00006" "{PMID:Saferali 2019:31269066}" "RNA sequencing 376 cases COPD" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00293777" "00198" "00403692" "02618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02618, 04012 ## Count = 0 ## 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}}" "0000294945" "00293777" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000404931" "00403692" "1" "00006" "00006" "2022-02-20 21:36:42" "" "" "RT-PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000404931" "FBXO38" ## 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 = 41 "{{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}}" "0000246329" "0" "10" "5" "147778631" "147778631" "subst" "0.0274035" "02330" "FBXO38_000006" "g.147778631A>G" "" "" "" "FBXO38(NM_030793.5):c.198A>G (p.L66=), FBXO38(NM_205836.3):c.198A>G (p.(Leu66=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148399068A>G" "" "benign" "" "0000246364" "0" "10" "5" "147788798" "147788798" "subst" "0.230407" "02330" "FBXO38_000003" "g.147788798A>G" "" "" "" "FBXO38(NM_030793.5):c.962+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148409235A>G" "" "benign" "" "0000246398" "0" "50" "5" "147821625" "147821625" "subst" "0" "02330" "FBXO38_000010" "g.147821625A>G" "" "" "" "FBXO38(NM_030793.5):c.3257A>G (p.K1086R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148442062A>G" "" "VUS" "" "0000276679" "0" "10" "5" "147803557" "147803557" "subst" "0.36077" "02330" "FBXO38_000013" "g.147803557G>T" "" "" "" "FBXO38(NM_030793.5):c.1619-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148423994G>T" "" "benign" "" "0000276680" "0" "10" "5" "147805120" "147805120" "subst" "0.26813" "02330" "FBXO38_000004" "g.147805120T>C" "" "" "" "FBXO38(NM_030793.5):c.1774T>C (p.S592P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148425557T>C" "" "benign" "" "0000276681" "0" "10" "5" "147812971" "147812971" "subst" "0" "02330" "FBXO38_000008" "g.147812971T>C" "" "" "" "FBXO38(NM_030793.5):c.2429-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148433408T>C" "" "benign" "" "0000276682" "0" "10" "5" "147819366" "147819366" "subst" "0.361037" "02330" "FBXO38_000005" "g.147819366T>C" "" "" "" "FBXO38(NM_030793.5):c.2945+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148439803T>C" "" "benign" "" "0000276683" "0" "10" "5" "147819364" "147819364" "subst" "0" "02330" "FBXO38_000009" "g.147819364C>T" "" "" "" "FBXO38(NM_030793.5):c.2945+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148439801C>T" "" "benign" "" "0000276684" "0" "50" "5" "147821690" "147821690" "subst" "0.000642972" "02330" "FBXO38_000011" "g.147821690G>A" "" "" "" "FBXO38(NM_030793.5):c.3322G>A (p.V1108I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148442127G>A" "" "VUS" "" "0000276685" "0" "10" "5" "147785815" "147785815" "del" "0" "02330" "FBXO38_000002" "g.147785815del" "" "" "" "FBXO38(NM_030793.5):c.731-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148406252del" "" "benign" "" "0000276687" "0" "10" "5" "147774426" "147774426" "subst" "0.00285043" "02330" "FBXO38_000001" "g.147774426T>C" "" "" "" "FBXO38(NM_030793.5):c.87T>C (p.Y29=), FBXO38(NM_205836.2):c.87T>C (p.Y29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148394863T>C" "" "benign" "" "0000524743" "0" "10" "5" "147785815" "147785815" "dup" "0" "02330" "FBXO38_000012" "g.147785815dup" "" "" "" "FBXO38(NM_030793.5):c.731-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148406252dup" "" "benign" "" "0000524744" "0" "30" "5" "147807198" "147807198" "subst" "0.00123646" "02330" "FBXO38_000014" "g.147807198C>T" "" "" "" "FBXO38(NM_030793.5):c.2341C>T (p.P781S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148427635C>T" "" "likely benign" "" "0000524745" "0" "10" "5" "147813013" "147813013" "subst" "0.00774105" "02330" "FBXO38_000015" "g.147813013G>A" "" "" "" "FBXO38(NM_030793.5):c.2455G>A (p.A819T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148433450G>A" "" "benign" "" "0000524746" "0" "30" "5" "147818056" "147818056" "subst" "0.00098337" "02330" "FBXO38_000016" "g.147818056C>A" "" "" "" "FBXO38(NM_030793.5):c.2794C>A (p.Q932K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148438493C>A" "" "likely benign" "" "0000524747" "0" "30" "5" "147818058" "147818058" "subst" "0" "02330" "FBXO38_000017" "g.147818058G>A" "" "" "" "FBXO38(NM_030793.5):c.2796G>A (p.Q932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148438495G>A" "" "likely benign" "" "0000651634" "1" "50" "5" "147788749" "147788749" "subst" "0.00038594" "03575" "FBXO38_000018" "g.147788749C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs142117467}" "Germline" "" "rs142117467" "0" "" "" "g.148409186C>A" "" "VUS" "" "0000655321" "0" "50" "5" "147782045" "147782045" "subst" "7.33275E-5" "02330" "FBXO38_000019" "g.147782045A>G" "" "" "" "FBXO38(NM_030793.5):c.561A>G (p.I187M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148402482A>G" "" "VUS" "" "0000655322" "0" "10" "5" "147785815" "147785815" "dup" "0" "02326" "FBXO38_000012" "g.147785815dup" "" "" "" "FBXO38(NM_030793.5):c.731-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148406252dup" "" "benign" "" "0000677430" "0" "30" "5" "147818056" "147818056" "subst" "0.00098337" "02326" "FBXO38_000016" "g.147818056C>A" "" "" "" "FBXO38(NM_030793.5):c.2794C>A (p.Q932K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689454" "0" "50" "5" "147774350" "147774350" "subst" "8.2478E-5" "01943" "FBXO38_000020" "g.147774350G>A" "" "" "" "FBXO38(NM_205836.2):c.11G>A (p.R4Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689455" "0" "30" "5" "147774426" "147774426" "subst" "0.00285043" "01943" "FBXO38_000001" "g.147774426T>C" "" "" "" "FBXO38(NM_030793.5):c.87T>C (p.Y29=), FBXO38(NM_205836.2):c.87T>C (p.Y29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689456" "0" "50" "5" "147807259" "147807259" "subst" "8.13517E-6" "02330" "FBXO38_000021" "g.147807259G>A" "" "" "" "FBXO38(NM_205836.3):c.2402G>A (p.R801Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801956" "0" "50" "5" "147784367" "147784367" "subst" "8.41652E-5" "02330" "FBXO38_000022" "g.147784367G>A" "" "" "" "FBXO38(NM_205836.3):c.712G>A (p.V238I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801957" "0" "30" "5" "147820769" "147820769" "subst" "0.000191505" "02326" "FBXO38_000023" "g.147820769C>T" "" "" "" "FBXO38(NM_030793.5):c.3132C>T (p.F1044=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000840900" "0" "70" "5" "147790860" "147790860" "subst" "0" "00006" "FBXO38_000024" "g.147790860C>G" "" "{PMID:Saferali 2019:31269066}" "" "" "variant associates with protection against COPD" "Germline" "" "rs7730971" "0" "" "" "" "" "association" "" "0000850826" "0" "10" "5" "147784235" "147784235" "subst" "0" "02330" "FBXO38_000025" "g.147784235A>T" "" "" "" "FBXO38(NM_205836.3):c.593-13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850827" "0" "50" "5" "147784367" "147784367" "subst" "8.41652E-5" "02327" "FBXO38_000022" "g.147784367G>A" "" "" "" "FBXO38(NM_205836.3):c.712G>A (p.V238I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850828" "0" "10" "5" "147807365" "147807370" "del" "0" "02330" "FBXO38_000026" "g.147807365_147807370del" "" "" "" "FBXO38(NM_205836.3):c.2508_2513delGAGTGG (p.S839_G840del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850829" "0" "10" "5" "147813321" "147813323" "del" "0" "02330" "FBXO38_000028" "g.147813321_147813323del" "" "" "" "FBXO38(NM_205836.3):c.2857+21_2857+23delTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859811" "0" "50" "5" "147813280" "147813280" "subst" "2.47551E-5" "02327" "FBXO38_000027" "g.147813280C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886668" "0" "50" "5" "147807426" "147807426" "subst" "0" "02330" "FBXO38_000029" "g.147807426G>A" "" "" "" "FBXO38(NM_205836.3):c.2569G>A (p.V857M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912259" "0" "50" "5" "147796726" "147796726" "subst" "0.000101739" "02330" "FBXO38_000030" "g.147796726G>A" "" "" "" "FBXO38(NM_205836.3):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963520" "0" "10" "5" "147795712" "147795712" "dup" "0" "02329" "FBXO38_000031" "g.147795712dup" "" "" "" "FBXO38(NM_205836.3):c.1407+79dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963521" "0" "30" "5" "147806954" "147806954" "subst" "4.07262E-6" "02330" "FBXO38_000032" "g.147806954T>C" "" "" "" "FBXO38(NM_205836.3):c.2097T>C (p.D699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963522" "0" "30" "5" "147820104" "147820104" "subst" "1.25851E-5" "02330" "FBXO38_000033" "g.147820104A>G" "" "" "" "FBXO38(NM_205836.3):c.3274+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976638" "0" "30" "5" "147820727" "147820727" "subst" "2.84481E-5" "02326" "FBXO38_000034" "g.147820727C>T" "" "" "" "FBXO38(NM_030793.5):c.3090C>T (p.F1030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994769" "0" "30" "5" "147796726" "147796726" "subst" "0.000101739" "02327" "FBXO38_000030" "g.147796726G>A" "" "" "" "FBXO38(NM_205836.3):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994770" "0" "30" "5" "147813099" "147813099" "dup" "0" "02330" "FBXO38_000035" "g.147813099dup" "" "" "" "FBXO38(NM_205836.3):c.2754+12dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034994" "0" "30" "5" "147778631" "147778631" "subst" "0.0274035" "01804" "FBXO38_000006" "g.147778631A>G" "" "" "" "FBXO38(NM_030793.5):c.198A>G (p.L66=), FBXO38(NM_205836.3):c.198A>G (p.(Leu66=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034995" "0" "30" "5" "147817926" "147817926" "subst" "0.000227744" "02330" "FBXO38_000036" "g.147817926G>C" "" "" "" "FBXO38(NM_205836.3):c.2889G>C (p.K963N)" "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 FBXO38 ## Count = 82 "{{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}}" "0000246329" "00025696" "10" "198" "0" "198" "0" "c.198A>G" "r.(?)" "p.(Leu66=)" "" "0000246329" "00007813" "10" "198" "0" "198" "0" "c.198A>G" "r.(?)" "p.(Leu66=)" "" "0000246364" "00025696" "10" "962" "18" "962" "18" "c.962+18A>G" "r.(=)" "p.(=)" "" "0000246364" "00007813" "10" "962" "18" "962" "18" "c.962+18A>G" "r.(=)" "p.(=)" "" "0000246398" "00025696" "50" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Lys1086Arg)" "" "0000246398" "00007813" "50" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Lys1086Arg)" "" "0000276679" "00025696" "10" "1619" "-4" "1619" "-4" "c.1619-4G>T" "r.spl?" "p.?" "" "0000276679" "00007813" "10" "1619" "-4" "1619" "-4" "c.1619-4G>T" "r.spl?" "p.?" "" "0000276680" "00025696" "10" "1774" "0" "1774" "0" "c.1774T>C" "r.(?)" "p.(Ser592Pro)" "" "0000276680" "00007813" "10" "1774" "0" "1774" "0" "c.1774T>C" "r.(?)" "p.(Ser592Pro)" "" "0000276681" "00025696" "10" "2429" "-16" "2429" "-16" "c.2429-16T>C" "r.(=)" "p.(=)" "" "0000276681" "00007813" "10" "2429" "-16" "2429" "-16" "c.2429-16T>C" "r.(=)" "p.(=)" "" "0000276682" "00025696" "10" "2945" "11" "2945" "11" "c.2945+11T>C" "r.(=)" "p.(=)" "" "0000276682" "00007813" "10" "2945" "11" "2945" "11" "c.2945+11T>C" "r.(=)" "p.(=)" "" "0000276683" "00025696" "10" "2945" "9" "2945" "9" "c.2945+9C>T" "r.(=)" "p.(=)" "" "0000276683" "00007813" "10" "2945" "9" "2945" "9" "c.2945+9C>T" "r.(=)" "p.(=)" "" "0000276684" "00025696" "50" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Val1108Ile)" "" "0000276684" "00007813" "50" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Val1108Ile)" "" "0000276685" "00025696" "10" "731" "-5" "731" "-5" "c.731-5del" "r.spl?" "p.?" "" "0000276685" "00007813" "10" "731" "-5" "731" "-5" "c.731-5del" "r.spl?" "p.?" "" "0000276687" "00025696" "10" "87" "0" "87" "0" "c.87T>C" "r.(?)" "p.(Tyr29=)" "" "0000276687" "00007813" "10" "87" "0" "87" "0" "c.87T>C" "r.(?)" "p.(Tyr29=)" "" "0000524743" "00025696" "10" "731" "-5" "731" "-5" "c.731-5dup" "r.spl?" "p.?" "" "0000524743" "00007813" "10" "731" "-5" "731" "-5" "c.731-5dup" "r.spl?" "p.?" "" "0000524744" "00025696" "30" "2341" "0" "2341" "0" "c.2341C>T" "r.(?)" "p.(Pro781Ser)" "" "0000524744" "00007813" "30" "2341" "0" "2341" "0" "c.2341C>T" "r.(?)" "p.(Pro781Ser)" "" "0000524745" "00025696" "10" "2455" "0" "2455" "0" "c.2455G>A" "r.(?)" "p.(Ala819Thr)" "" "0000524745" "00007813" "10" "2455" "0" "2455" "0" "c.2455G>A" "r.(?)" "p.(Ala819Thr)" "" "0000524746" "00025696" "30" "2794" "0" "2794" "0" "c.2794C>A" "r.(?)" "p.(Gln932Lys)" "" "0000524746" "00007813" "30" "2794" "0" "2794" "0" "c.2794C>A" "r.(?)" "p.(Gln932Lys)" "" "0000524747" "00025696" "30" "2796" "0" "2796" "0" "c.2796G>A" "r.(?)" "p.(Gln932=)" "" "0000524747" "00007813" "30" "2796" "0" "2796" "0" "c.2796G>A" "r.(?)" "p.(Gln932=)" "" "0000651634" "00025696" "50" "931" "0" "931" "0" "c.931C>A" "r.(?)" "p.(Leu311Ile)" "" "0000651634" "00007813" "50" "931" "0" "931" "0" "c.931C>A" "r.(?)" "p.(Leu311Ile)" "" "0000655321" "00025696" "50" "561" "0" "561" "0" "c.561A>G" "r.(?)" "p.(Ile187Met)" "" "0000655321" "00007813" "50" "561" "0" "561" "0" "c.561A>G" "r.(?)" "p.(Ile187Met)" "" "0000655322" "00025696" "10" "731" "-5" "731" "-5" "c.731-5dup" "r.spl?" "p.?" "" "0000655322" "00007813" "10" "731" "-5" "731" "-5" "c.731-5dup" "r.spl?" "p.?" "" "0000677430" "00025696" "30" "2794" "0" "2794" "0" "c.2794C>A" "r.(?)" "p.(Gln932Lys)" "" "0000677430" "00007813" "30" "2794" "0" "2794" "0" "c.2794C>A" "r.(?)" "p.(Gln932Lys)" "" "0000689454" "00025696" "50" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4Gln)" "" "0000689454" "00007813" "50" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4Gln)" "" "0000689455" "00025696" "30" "87" "0" "87" "0" "c.87T>C" "r.(?)" "p.(Tyr29=)" "" "0000689455" "00007813" "30" "87" "0" "87" "0" "c.87T>C" "r.(?)" "p.(Tyr29=)" "" "0000689456" "00025696" "50" "2402" "0" "2402" "0" "c.2402G>A" "r.(?)" "p.(Arg801Gln)" "" "0000689456" "00007813" "50" "2402" "0" "2402" "0" "c.2402G>A" "r.(?)" "p.(Arg801Gln)" "" "0000801956" "00025696" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Val238Ile)" "" "0000801956" "00007813" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Val238Ile)" "" "0000801957" "00025696" "30" "3132" "0" "3132" "0" "c.3132C>T" "r.(?)" "p.(Phe1044=)" "" "0000801957" "00007813" "30" "3132" "0" "3132" "0" "c.3132C>T" "r.(?)" "p.(Phe1044=)" "" "0000840900" "00025696" "70" "1093" "532" "1093" "532" "c.1093+532C>G" ".1093_1094ins1093+315_1093+473" "p.fs" "" "0000840900" "00007813" "70" "1093" "532" "1093" "532" "c.1093+532C>G" "r.1093_1094ins1093+315_1093+473" "p.fs" "" "0000850826" "00025696" "10" "593" "-13" "593" "-13" "c.593-13A>T" "r.(=)" "p.(=)" "" "0000850826" "00007813" "10" "593" "-13" "593" "-13" "c.593-13A>T" "r.(=)" "p.(=)" "" "0000850827" "00025696" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Val238Ile)" "" "0000850827" "00007813" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Val238Ile)" "" "0000850828" "00025696" "10" "2428" "80" "2428" "85" "c.2428+80_2428+85del" "r.(=)" "p.(=)" "" "0000850828" "00007813" "10" "2428" "80" "2428" "85" "c.2428+80_2428+85del" "r.(=)" "p.(=)" "" "0000850829" "00025696" "10" "2632" "21" "2632" "23" "c.2632+21_2632+23del" "r.(=)" "p.(=)" "" "0000850829" "00007813" "10" "2632" "21" "2632" "23" "c.2632+21_2632+23del" "r.(=)" "p.(=)" "" "0000859811" "00025696" "50" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "" "0000859811" "00007813" "50" "2612" "0" "2612" "0" "c.2612C>G" "r.(?)" "p.(Pro871Arg)" "" "0000886668" "00025696" "50" "2428" "141" "2428" "141" "c.2428+141G>A" "r.(=)" "p.(=)" "" "0000886668" "00007813" "50" "2428" "141" "2428" "141" "c.2428+141G>A" "r.(=)" "p.(=)" "" "0000912259" "00025696" "50" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "0000912259" "00007813" "50" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "0000963520" "00025696" "10" "1407" "79" "1407" "79" "c.1407+79dup" "r.(=)" "p.(=)" "" "0000963520" "00007813" "10" "1407" "79" "1407" "79" "c.1407+79dup" "r.(=)" "p.(=)" "" "0000963521" "00025696" "30" "2097" "0" "2097" "0" "c.2097T>C" "r.(?)" "p.(=)" "" "0000963521" "00007813" "30" "2097" "0" "2097" "0" "c.2097T>C" "r.(?)" "p.(=)" "" "0000963522" "00025696" "30" "3049" "14" "3049" "14" "c.3049+14A>G" "r.(=)" "p.(=)" "" "0000963522" "00007813" "30" "3049" "14" "3049" "14" "c.3049+14A>G" "r.(=)" "p.(=)" "" "0000976638" "00025696" "30" "3090" "0" "3090" "0" "c.3090C>T" "r.(?)" "p.(=)" "" "0000976638" "00007813" "30" "3090" "0" "3090" "0" "c.3090C>T" "r.(?)" "p.(=)" "" "0000994769" "00025696" "30" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "0000994769" "00007813" "30" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "0000994770" "00025696" "30" "2529" "12" "2529" "12" "c.2529+12dup" "r.(=)" "p.(=)" "" "0000994770" "00007813" "30" "2529" "12" "2529" "12" "c.2529+12dup" "r.(=)" "p.(=)" "" "0001034994" "00025696" "30" "198" "0" "198" "0" "c.198A>G" "r.(?)" "p.(Leu66=)" "" "0001034994" "00007813" "30" "198" "0" "198" "0" "c.198A>G" "r.(?)" "p.(Leu66=)" "" "0001034995" "00025696" "30" "2664" "0" "2664" "0" "c.2664G>C" "r.(?)" "p.(Lys888Asn)" "" "0001034995" "00007813" "30" "2664" "0" "2664" "0" "c.2664G>C" "r.(?)" "p.(Lys888Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000294945" "0000651634" "0000404931" "0000840900"