### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CD40) # 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}}" "CD40" "CD40 molecule, TNF receptor superfamily member 5" "20" "q12-q13.2" "unknown" "LRG_40" "UD_132084569466" "" "http://www.LOVD.nl/CD40" "" "1" "11919" "958" "109535" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/CD40_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-07-27 14:51:48" "00006" "2025-01-31 19:36:59" ## 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}}" "00004707" "CD40" "transcript variant 1" "001" "NM_001250.4" "" "NP_001241.1" "" "" "" "-77" "1539" "834" "44746906" "44758384" "" "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}}" "02611" "HIGM3" "immunodeficiency, with hyper IgM, type 3 (HIGM-3)" "AR" "606843" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CD40" "02611" ## Individuals ## Do not remove or alter this header ## ## Count = 67 "{{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}}" "00046596" "" "" "" "1" "" "01363" "" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00119104" "" "" "" "1" "" "00454" "{PMID:Luce 2018:30342905} {PMID:Luce 2021:34149409}" "" "M" "?" "Argentina" "" "0" "" "" "" "#435" "00141301" "" "" "" "1" "" "00454" "" "" "M" "" "Argentina" "" "0" "" "" "" "#171" "00141315" "" "" "" "1" "" "00454" "" "" "M" "" "Argentina" "" "0" "" "" "" "#430" "00144681" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#125" "00144684" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#64LP" "00266430" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "" "" "" "" "#626" "00266435" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "no" "Argentina" "" "" "" "" "" "#378" "00274472" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047} {PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#153" "00274480" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047} {PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#186" "00274498" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047} {PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#67" "00274505" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047}" "" "M" "" "Argentina" "" "0" "" "" "" "#616" "00362954" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#853" "00362968" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#273" "00362976" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#294" "00363002" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "del-dup" "M" "" "Argentina" "" "0" "" "" "" "#477" "00363006" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#507" "00363046" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#676" "00363061" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#644" "00363104" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#800" "00462133" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#874" "00462134" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#69LP" "00462135" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#832" "00462136" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#52LP" "00462137" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#94" "00462138" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#554" "00462139" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#263" "00462140" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#184LP" "00462141" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#879" "00462142" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#137" "00462143" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#229LP" "00462144" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#658" "00462145" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#864" "00462146" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#15LP" "00462147" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#915" "00462148" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#431" "00462149" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#467" "00462150" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#195LP" "00462151" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#564" "00462152" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#47LP" "00462153" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#169LP" "00462154" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#238LP" "00462155" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#68LP" "00462156" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#677" "00462157" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#747" "00462158" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#432" "00462159" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#34LP" "00462160" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#545" "00462161" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#66LP" "00462162" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#516" "00462163" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#823" "00462164" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#72LP" "00462165" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#212LP" "00462166" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#81LP" "00462167" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#182LP" "00462168" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#912" "00462169" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#888" "00462170" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#39LP" "00462171" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#228" "00462172" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#132" "00462173" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#420" "00462174" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#283" "00462175" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#184" "00462176" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#48LP" "00462177" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#584" "00462178" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#523" "00462179" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#13LP" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 67 "{{individualid}}" "{{diseaseid}}" "00046596" "02611" "00119104" "05324" "00141301" "05324" "00141315" "05324" "00144681" "05324" "00144684" "05324" "00266430" "05324" "00266435" "05324" "00274472" "05378" "00274480" "05378" "00274498" "05378" "00274505" "05378" "00362954" "05121" "00362968" "05121" "00362976" "05121" "00363002" "05121" "00363006" "05121" "00363046" "05121" "00363061" "05121" "00363104" "05121" "00462133" "05378" "00462134" "05378" "00462135" "05378" "00462136" "05378" "00462137" "05378" "00462138" "05378" "00462139" "05378" "00462140" "05378" "00462141" "05378" "00462142" "05378" "00462143" "05378" "00462144" "05378" "00462145" "05378" "00462146" "05378" "00462147" "05378" "00462148" "05378" "00462149" "05378" "00462150" "05378" "00462151" "05378" "00462152" "05378" "00462153" "05378" "00462154" "05378" "00462155" "05378" "00462156" "05378" "00462157" "05378" "00462158" "05378" "00462159" "05378" "00462160" "05378" "00462161" "05378" "00462162" "05378" "00462163" "05378" "00462164" "05378" "00462165" "05378" "00462166" "05378" "00462167" "05378" "00462168" "05378" "00462169" "05378" "00462170" "05378" "00462171" "05378" "00462172" "05378" "00462173" "05378" "00462174" "05378" "00462175" "05378" "00462176" "05378" "00462177" "05378" "00462178" "05378" "00462179" "05378" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02611, 05121, 05324, 05378 ## Count = 65 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000094103" "05324" "00119104" "00454" "Familial, X-linked" "18y" "" "2y" "" "" "" "" "" "" "" "DMD" "0000114049" "05324" "00141301" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "0000114063" "05324" "00141315" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "0000117417" "05324" "00144681" "00454" "Familial" "" "" "" "" "" "" "" "" "" "" "" "0000117624" "05324" "00144684" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000204175" "05324" "00266435" "00454" "Familial, X-linked recessive" "14y" "HP:0001252 (lower limbs, onset 6m), HP:0002540" "00y06m" "" "" "" "" "" "" "DMD" "DMD" "0000209411" "05378" "00274472" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "DMD" "DMD" "0000209419" "05378" "00274480" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "DMD" "DMD" "0000209437" "05378" "00274498" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "?" "BMD" "0000209444" "05378" "00274505" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "DMD" "DMD" "0000258320" "05121" "00362954" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "0000258334" "05121" "00362968" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "0000258342" "05121" "00362976" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "0000258368" "05121" "00363002" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "0000258372" "05121" "00363006" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "0000258412" "05121" "00363046" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "0000258427" "05121" "00363061" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "0000258470" "05121" "00363104" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "0000349633" "05378" "00462133" "00454" "Unknown" "" "9y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349634" "05378" "00462134" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349635" "05378" "00462135" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349636" "05378" "00462136" "00454" "Unknown" "" "11y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349637" "05378" "00462137" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349638" "05378" "00462138" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349639" "05378" "00462139" "00454" "Unknown" "" "8y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349640" "05378" "00462140" "00454" "Unknown" "" "11y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349641" "05378" "00462141" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349642" "05378" "00462142" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349643" "05378" "00462143" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349644" "05378" "00462144" "00454" "Unknown" "" "11y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349645" "05378" "00462145" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349646" "05378" "00462146" "00454" "Unknown" "" "11y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349647" "05378" "00462147" "00454" "Unknown" "" "10y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349648" "05378" "00462148" "00454" "Unknown" "" "9y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349649" "05378" "00462149" "00454" "Unknown" "" "6y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349650" "05378" "00462150" "00454" "Unknown" "" "10y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349651" "05378" "00462151" "00454" "Unknown" "" "6y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349652" "05378" "00462152" "00454" "Unknown" "" "6y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349653" "05378" "00462153" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349654" "05378" "00462154" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349655" "05378" "00462155" "00454" "Unknown" "" "11y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349656" "05378" "00462156" "00454" "Unknown" "" "7y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349657" "05378" "00462157" "00454" "Unknown" "" "10y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349658" "05378" "00462158" "00454" "Unknown" "" "23y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349659" "05378" "00462159" "00454" "Unknown" "" "17y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349660" "05378" "00462160" "00454" "Unknown" "" "19y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349661" "05378" "00462161" "00454" "Unknown" "" "17y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349662" "05378" "00462162" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349663" "05378" "00462163" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349664" "05378" "00462164" "00454" "Unknown" "" "17y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349665" "05378" "00462165" "00454" "Unknown" "" "19y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349666" "05378" "00462166" "00454" "Unknown" "" "20y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349667" "05378" "00462167" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349668" "05378" "00462168" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349669" "05378" "00462169" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349670" "05378" "00462170" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349671" "05378" "00462171" "00454" "Unknown" "" "20y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349672" "05378" "00462172" "00454" "Unknown" "" "15y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349673" "05378" "00462173" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349674" "05378" "00462174" "00454" "Unknown" "" "19y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349675" "05378" "00462175" "00454" "Unknown" "" "18y-loss ambulation" "" "" "" "" "" "" "" "" "BMD/DMD" "0000349676" "05378" "00462176" "00454" "Unknown" "" "20y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD." "BMD/DMD" "0000349677" "05378" "00462177" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349678" "05378" "00462178" "00454" "Unknown" "" "18y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "0000349679" "05378" "00462179" "00454" "Unknown" "" "17y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "DMD" "BMD/DMD" ## Screenings ## Do not remove or alter this header ## ## Count = 67 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000046705" "00046596" "1" "01363" "01363" "2015-07-20 17:22:09" "" "" "PCR;SEQ" "DNA" "" "" "0000119573" "00119104" "1" "00454" "00454" "2017-09-07 20:20:23" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000142141" "00141301" "1" "00454" "00454" "2007-10-03 17:42:33" "00006" "2013-02-01 19:44:09" "PCRm" "DNA" "" "" "0000142155" "00141315" "1" "00454" "00454" "2007-10-03 17:39:48" "00006" "2019-10-25 14:41:22" "MLPA;PCRm" "DNA" "" "" "0000145538" "00144681" "1" "00454" "00454" "2017-12-21 20:58:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000145541" "00144684" "1" "00454" "00454" "2017-12-21 21:08:35" "" "" "SEQ-NG" "DNA" "blood" "" "0000267557" "00266430" "1" "00454" "00454" "2019-10-25 18:30:35" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000267562" "00266435" "1" "00454" "00454" "2019-10-25 19:43:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000275632" "00274472" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000275640" "00274480" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000275658" "00274498" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000275665" "00274505" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000364182" "00362954" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "SEQ-NG-I" "DNA" "BLOOD" "" "0000364196" "00362968" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364204" "00362976" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364230" "00363002" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364234" "00363006" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364274" "00363046" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA; PCR" "DNA" "BLOOD" "" "0000364289" "00363061" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364332" "00363104" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000463765" "00462133" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463766" "00462134" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463767" "00462135" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463768" "00462136" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463769" "00462137" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463770" "00462138" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463771" "00462139" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463772" "00462140" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463773" "00462141" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463774" "00462142" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463775" "00462143" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463776" "00462144" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463777" "00462145" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463778" "00462146" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463779" "00462147" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463780" "00462148" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463781" "00462149" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463782" "00462150" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463783" "00462151" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463784" "00462152" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463785" "00462153" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463786" "00462154" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463787" "00462155" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463788" "00462156" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463789" "00462157" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463790" "00462158" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463791" "00462159" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463792" "00462160" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463793" "00462161" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463794" "00462162" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463795" "00462163" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463796" "00462164" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463797" "00462165" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463798" "00462166" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463799" "00462167" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463800" "00462168" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463801" "00462169" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463802" "00462170" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463803" "00462171" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463804" "00462172" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463805" "00462173" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463806" "00462174" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463807" "00462175" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463808" "00462176" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463809" "00462177" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463810" "00462178" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463811" "00462179" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{geneid}}" "0000046705" "CD40" "0000119573" "DMD" "0000142141" "DMD" "0000142155" "DMD" "0000145538" "DMD" "0000145541" "DMD" "0000267557" "DMD" "0000267562" "DMD" "0000275632" "DMD" "0000275640" "DMD" "0000275658" "DMD" "0000275665" "DMD" "0000364182" "DMD" "0000364196" "DMD" "0000364204" "DMD" "0000364230" "DMD" "0000364234" "DMD" "0000364274" "DMD" "0000364289" "DMD" "0000364332" "DMD" "0000463765" "DMD" "0000463766" "DMD" "0000463767" "DMD" "0000463768" "DMD" "0000463769" "DMD" "0000463770" "DMD" "0000463771" "DMD" "0000463772" "DMD" "0000463773" "DMD" "0000463774" "DMD" "0000463775" "DMD" "0000463776" "DMD" "0000463777" "DMD" "0000463778" "DMD" "0000463779" "DMD" "0000463780" "DMD" "0000463781" "DMD" "0000463782" "DMD" "0000463783" "DMD" "0000463784" "DMD" "0000463785" "DMD" "0000463786" "DMD" "0000463787" "DMD" "0000463788" "DMD" "0000463789" "DMD" "0000463790" "DMD" "0000463791" "DMD" "0000463792" "DMD" "0000463793" "DMD" "0000463794" "DMD" "0000463795" "DMD" "0000463796" "DMD" "0000463797" "DMD" "0000463798" "DMD" "0000463799" "DMD" "0000463800" "DMD" "0000463801" "DMD" "0000463802" "DMD" "0000463803" "DMD" "0000463804" "DMD" "0000463805" "DMD" "0000463806" "DMD" "0000463807" "DMD" "0000463808" "DMD" "0000463809" "DMD" "0000463810" "DMD" "0000463811" "DMD" ## 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 = 76 "{{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}}" "0000074842" "3" "70" "20" "44750516" "44750516" "subst" "0" "01363" "CD40_000001" "g.44750516T>G" "" "" "" "3534T>G" "" "Germline" "" "" "0" "" "" "g.46121877T>G" "" "likely pathogenic" "" "0000266573" "0" "10" "20" "44746982" "44746982" "subst" "0.747861" "02325" "CD40_000002" "g.44746982T>C" "" "" "" "CD40(NM_001250.4):c.-1T>C, CD40(NM_001250.6):c.-1T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46118343T>C" "" "benign" "" "0000269876" "0" "10" "20" "44746982" "44746982" "subst" "0.747861" "02326" "CD40_000002" "g.44746982T>C" "" "" "" "CD40(NM_001250.4):c.-1T>C, CD40(NM_001250.6):c.-1T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46118343T>C" "" "benign" "" "0000269877" "0" "10" "20" "44751363" "44751363" "subst" "0.0101092" "02326" "CD40_000003" "g.44751363C>T" "" "" "" "CD40(NM_001250.4):c.371C>T (p.S124L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46122724C>T" "" "benign" "" "0000269878" "0" "10" "20" "44756823" "44756823" "subst" "0.0104316" "02326" "CD40_000005" "g.44756823C>T" "" "" "" "CD40(NM_152854.4):c.544C>T (p.R182W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46128184C>T" "" "benign" "" "0000269879" "0" "10" "20" "44755376" "44755376" "subst" "0.0114816" "02326" "CD40_000004" "g.44755376G>C" "" "" "" "CD40(NM_001250.4):c.559+36G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46126737G>C" "" "benign" "" "0000269880" "0" "30" "20" "44757524" "44757524" "subst" "0.021737" "02326" "CD40_000006" "g.44757524C>G" "" "" "" "CD40(NM_001250.4):c.679C>G (p.P227A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46128885C>G" "" "likely benign" "" "0000658774" "0" "30" "20" "44750464" "44750464" "subst" "0" "01943" "CD40_000007" "g.44750464T>A" "" "" "" "CD40(NM_001302753.1):c.57T>A (p.H19Q), CD40(NM_001302753.2):c.57T>A (p.H19Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46121825T>A" "" "likely benign" "" "0000658775" "0" "30" "20" "44750464" "44750464" "subst" "0" "02326" "CD40_000007" "g.44750464T>A" "" "" "" "CD40(NM_001302753.1):c.57T>A (p.H19Q), CD40(NM_001302753.2):c.57T>A (p.H19Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46121825T>A" "" "likely benign" "" "0000855855" "0" "50" "20" "44750888" "44750888" "subst" "0.000174626" "01943" "CD40_000008" "g.44750888T>C" "" "" "" "CD40(NM_001302753.1):c.147T>C (p.S49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001023598" "3" "30" "20" "44746982" "44746982" "=" "0" "00454" "CD40_000009" "g.44746982=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.46118343=" "" "benign" "" "0001023599" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023600" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023601" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023602" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023603" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023604" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023605" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023606" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023607" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023608" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023609" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023610" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023611" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023612" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023613" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023614" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023615" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023616" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023617" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023618" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023619" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023620" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023621" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023622" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023623" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023624" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023625" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023626" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023627" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023628" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023629" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023630" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023631" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023632" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023633" "3" "30" "20" "44746982" "44746982" "=" "0" "00454" "CD40_000009" "g.44746982=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.46118343=" "" "benign" "" "0001023634" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023635" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023636" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023637" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023638" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023639" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023640" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023641" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023642" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023643" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023644" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023645" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023646" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023647" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023648" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023649" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023650" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023651" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023652" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023653" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023654" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023655" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023656" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023657" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023658" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023659" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023660" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023661" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023662" "1" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "benign" "" "0001023663" "3" "30" "20" "44746982" "44746982" "subst" "0.747861" "00454" "CD40_000002" "g.44746982T>C" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs1883832" "0" "" "" "g.46118343T>C" "" "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 CD40 ## Count = 76 "{{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}}" "0000074842" "00004707" "70" "109" "0" "109" "0" "c.109T>G" "r.(?)" "p.(Cys37Gly)" "2" "0000266573" "00004707" "10" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "" "0000269876" "00004707" "10" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "" "0000269877" "00004707" "10" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Ser124Leu)" "" "0000269878" "00004707" "10" "606" "0" "606" "0" "c.606C>T" "r.(?)" "p.(Phe202=)" "" "0000269879" "00004707" "10" "559" "36" "559" "36" "c.559+36G>C" "r.(=)" "p.(=)" "" "0000269880" "00004707" "30" "679" "0" "679" "0" "c.679C>G" "r.(?)" "p.(Pro227Ala)" "" "0000658774" "00004707" "30" "57" "0" "57" "0" "c.57T>A" "r.(?)" "p.(His19Gln)" "" "0000658775" "00004707" "30" "57" "0" "57" "0" "c.57T>A" "r.(?)" "p.(His19Gln)" "" "0000855855" "00004707" "50" "147" "0" "147" "0" "c.147T>C" "r.(?)" "p.(Ser49=)" "" "0001023598" "00004707" "30" "-1" "0" "-1" "0" "c.-1=" "r.(=)" "p.(=)" "1" "0001023599" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023600" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023601" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023602" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023603" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023604" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023605" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023606" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023607" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023608" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023609" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023610" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023611" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023612" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023613" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023614" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023615" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023616" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023617" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023618" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023619" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023620" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023621" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023622" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023623" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023624" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023625" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023626" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023627" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023628" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023629" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023630" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023631" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023632" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023633" "00004707" "30" "-1" "0" "-1" "0" "c.-1=" "r.(=)" "p.(=)" "1" "0001023634" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023635" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023636" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023637" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023638" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023639" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023640" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023641" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023642" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023643" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023644" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023645" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023646" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023647" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023648" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023649" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023650" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023651" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023652" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023653" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023654" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023655" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023656" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023657" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023658" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023659" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023660" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023661" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023662" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" "0001023663" "00004707" "30" "-1" "0" "-1" "0" "c.-1T>C" "r.(?)" "p.(=)" "1" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{variantid}}" "0000046705" "0000074842" "0000119573" "0001023660" "0000142141" "0001023645" "0000142155" "0001023656" "0000145538" "0001023658" "0000145541" "0001023657" "0000267557" "0001023649" "0000267562" "0001023651" "0000275632" "0001023661" "0000275640" "0001023646" "0000275658" "0001023662" "0000275665" "0001023659" "0000364182" "0001023663" "0000364196" "0001023655" "0000364204" "0001023652" "0000364230" "0001023648" "0000364234" "0001023650" "0000364274" "0001023647" "0000364289" "0001023653" "0000364332" "0001023654" "0000463765" "0001023598" "0000463766" "0001023599" "0000463767" "0001023600" "0000463768" "0001023601" "0000463769" "0001023602" "0000463770" "0001023603" "0000463771" "0001023604" "0000463772" "0001023605" "0000463773" "0001023606" "0000463774" "0001023607" "0000463775" "0001023608" "0000463776" "0001023609" "0000463777" "0001023610" "0000463778" "0001023611" "0000463779" "0001023612" "0000463780" "0001023613" "0000463781" "0001023614" "0000463782" "0001023615" "0000463783" "0001023616" "0000463784" "0001023617" "0000463785" "0001023618" "0000463786" "0001023619" "0000463787" "0001023620" "0000463788" "0001023621" "0000463789" "0001023622" "0000463790" "0001023623" "0000463791" "0001023624" "0000463792" "0001023625" "0000463793" "0001023626" "0000463794" "0001023627" "0000463795" "0001023628" "0000463796" "0001023629" "0000463797" "0001023630" "0000463798" "0001023631" "0000463799" "0001023632" "0000463800" "0001023633" "0000463801" "0001023634" "0000463802" "0001023635" "0000463803" "0001023636" "0000463804" "0001023637" "0000463805" "0001023638" "0000463806" "0001023639" "0000463807" "0001023640" "0000463808" "0001023641" "0000463809" "0001023642" "0000463810" "0001023643" "0000463811" "0001023644"