### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPP1) # 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}}" "SPP1" "secreted phosphoprotein 1" "4" "q22.1" "unknown" "NC_000004.11" "UD_136020632019" "" "https://www.LOVD.nl/SPP1" "" "1" "11255" "6696" "166490" "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/SPP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-31 16:38:40" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025977" "SPP1" "transcript variant 1" "002" "NM_001040058.1" "" "NP_001035147.1" "" "" "" "-165" "1460" "945" "88896802" "88904563" "00006" "2025-01-31 16:39:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "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 = 0 ## 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}}" "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" "00387774" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Zaboli" "M8600005" "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}}" "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" "00387774" "00139" "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 00139, 05121, 05324, 05378 ## Count = 66 "{{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" "0000281342" "00139" "00387774" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly (SD-2.5)" "" "" "" "" "" "" "" "" "intellectual disability" "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}}" "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" "" "0000389005" "00387774" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "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}}" "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" "0000389005" "SPP1" "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 = 68 "{{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}}" "0000817798" "3" "90" "4" "88902818" "88902818" "dup" "0" "00006" "SPP1_000001" "g.88902818dup" "" "{PMID:Hu 2019:29302074}" "" "NM_001251830:c.447dup" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.87981666dup" "" "likely pathogenic (recessive)" "" "0000994487" "0" "50" "4" "88901197" "88901197" "subst" "0.000797096" "01804" "SPP1_000002" "g.88901197G>A" "" "" "" "SPP1(NM_001040058.1):c.94-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001023466" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023467" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023468" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023469" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023470" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023471" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023472" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023473" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023474" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023475" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023476" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023477" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023478" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023479" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023480" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023481" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023482" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023483" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023484" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023485" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023486" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023487" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023488" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023489" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023490" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023491" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023492" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023493" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023494" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023495" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023496" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023497" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023498" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023499" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023500" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023501" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023502" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023503" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023504" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023505" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023506" "3" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023507" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023508" "3" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023509" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023510" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023511" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023512" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023513" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023514" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023515" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023516" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023517" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023518" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023519" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023520" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023521" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023522" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023523" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023524" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023525" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023526" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023527" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023528" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023529" "3" "30" "4" "88896797" "88896797" "=" "0" "00454" "SPP1_000004" "g.88896797=" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "" "0" "" "" "g.87975645=" "" "likely benign" "" "0001023530" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "likely benign" "" "0001023531" "1" "30" "4" "88896797" "88896797" "subst" "0" "00454" "SPP1_000003" "g.88896797T>G" "" "{PMID:Luce 2024:39674052}" "" "" "" "Germline" "" "rs28357094" "0" "" "" "g.87975645T>G" "" "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 SPP1 ## Count = 68 "{{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}}" "0000817798" "00025977" "90" "408" "0" "408" "0" "c.408dup" "r.(?)" "p.(Pro137Serfs*21)" "" "0000994487" "00025977" "50" "94" "-1" "94" "-1" "c.94-1G>A" "r.spl?" "p.?" "" "0001023466" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023467" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023468" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023469" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023470" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023471" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023472" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023473" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023474" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023475" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023476" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023477" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023478" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023479" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023480" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023481" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023482" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023483" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023484" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023485" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023486" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023487" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023488" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023489" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023490" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023491" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023492" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023493" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023494" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023495" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023496" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023497" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023498" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023499" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023500" "00025977" "30" "-170" "0" "-170" "0" "c.-170T>G" "r.(=)" "p.(=)" "_1" "0001023501" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023502" "00025977" "30" "-170" "0" "-170" "0" "c.-170=" "r.=" "p.=" "_1" "0001023503" "00025977" "30" "-170" 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