### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOBOX) # 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}}" "NOBOX" "NOBOX oogenesis homeobox" "7" "q35" "unknown" "NG_028979.1" "UD_132118417926" "" "https://www.LOVD.nl/NOBOX" "" "1" "22448" "135935" "610934" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NOBOX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-10 13:00:42" "00006" "2026-04-23 10:38:24" ## 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}}" "00014662" "NOBOX" "NOBOX oogenesis homeobox" "001" "NM_001080413.3" "" "NP_001073882.3" "" "" "" "1" "2076" "2076" "144107320" "144094333" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03040" "POF5" "ovarian failure, premature, type 5 (POF5)" "AD" "611548" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-12-01 17:15:41" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NOBOX" "03040" "NOBOX" "04187" ## Individuals ## Do not remove or alter this header ## ## Count = 123 "{{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}}" "00101241" "" "" "" "1" "" "01666" "{PMID:Li 2017:27836978}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "" "00294348" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324127" "" "" "" "2" "" "03948" "{PMID:Sassi 2021:34480423}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Belgium" "" "0" "" "" "white" "FamPatIV1" "00324129" "" "" "00324127" "1" "" "03948" "{PMID:Sassi 2021:34480423}" "sister" "F" "no" "Belgium" "" "0" "" "" "white" "FamPatIV2" "00402737" "" "" "" "1" "" "03948" "" "" "F" "no" "Belgium" "" "0" "" "" "Italy" "patient" "00477045" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "patient" "F" "" "Guinea" "" "0" "" "" "" "Pat1" "00477046" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "patient" "F" "" "Senegal" "" "0" "" "" "" "Pat2" "00477047" "" "" "" "2" "" "00006" "{PMID:Bouilly 2011:21837770}" "family, 2 affected sister" "F" "" "Congo" "" "0" "" "" "" "Pat3" "00477048" "" "" "00477047" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "sister" "F" "" "Congo" "" "0" "" "" "" "Pat4" "00477049" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "patient" "F" "" "Mali" "" "0" "" "" "" "Pat5" "00477050" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "patient" "F" "" "" "" "0" "" "" "French Caribbean" "Pat6" "00477051" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "patient" "F" "" "" "" "0" "" "" "Congo;France" "Pat7" "00477052" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat8" "00477053" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat9" "00477054" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat10" "00477055" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat11" "00477056" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat12" "00477057" "" "" "" "22" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477058" "" "" "" "3" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477059" "" "" "" "55" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477060" "" "" "" "3" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477061" "" "" "" "58" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477062" "" "" "" "2" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477063" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477064" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477065" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477066" "" "" "" "56" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477067" "" "" "" "33" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477068" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477069" "" "" "" "1" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477070" "" "" "" "8" "" "00006" "{PMID:Bouilly 2011:21837770}" "analysis 178 primary ovarian insufficiency cases" "" "" "" "" "0" "" "" "" "" "00477071" "" "" "" "27" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477072" "" "" "" "1" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477073" "" "" "" "41" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477074" "" "" "" "1" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477075" "" "" "" "1" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477076" "" "" "" "41" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477077" "" "" "" "41" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477078" "" "" "" "1" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477079" "" "" "" "27" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477080" "" "" "" "39" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477081" "" "" "" "26" "" "00006" "{PMID:Qin 2007:17701902}" "analysis 96 primary ovarian failure cases" "F" "" "United States" "" "0" "" "" "" "" "00477082" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "Senegal" "" "0" "" "" "" "Pat1" "00477083" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "Benin" "" "0" "" "" "" "Pat2" "00477084" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "Cote D\'Ivoire (Ivory Coast)" "" "0" "" "" "" "Pat3" "00477085" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "Mali" "" "0" "" "" "" "Pat4" "00477086" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "France" "" "0" "" "" "white" "Pat5" "00477087" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "Haiti" "" "0" "" "" "" "Pat6" "00477088" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "" "" "0" "" "" "" "Pat7" "00477089" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "France" "" "0" "" "" "white" "Pat8" "00477090" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "France" "" "0" "" "" "white" "Pat9" "00477091" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "France" "" "0" "" "" "white" "Pat10" "00477092" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "Mali" "" "0" "" "" "" "Pat11" "00477093" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "Haiti" "" "0" "" "" "" "Pat12" "00477094" "" "" "" "1" "" "00006" "{PMID:Bouilly 2015:25514101}" "analysis 213 unrelated primary ovarian insufficiency cases" "F" "" "France" "" "0" "" "" "" "" "00477095" "" "" "" "2" "" "00006" "{PMID:Franca 2017:29067606}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Brazil" "" "0" "" "" "" "FamPatII3/4" "00477096" "" "" "" "1" "" "00006" "{PMID:Jolly 2019:31042289}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "BAB6985" "00477097" "" "" "" "1" "" "00006" "{PMID:Li 2017:27836978}" "" "F" "" "China" "" "0" "" "" "" "patient" "00477098" "" "" "" "1" "" "00006" "{PMID:Li 2017:27836978}" "" "F" "" "China" "" "0" "" "" "" "patient" "00477099" "" "" "" "1" "" "00006" "{PMID:Li 2017:27836978}" "" "F" "" "China" "" "0" "" "" "" "patient" "00477100" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477101" "" "" "" "13" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477102" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477103" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477104" "" "" "" "3" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477105" "" "" "" "29" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477106" "" "" "" "34" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477107" "" "" "" "4" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477108" "" "" "" "12" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477109" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477110" "" "" "" "3" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477111" "" "" "" "2" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477112" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477113" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477114" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477115" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477116" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477117" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477118" "" "" "" "4" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477119" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477120" "" "" "" "2" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477121" "" "" "" "25" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477122" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477123" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477124" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477125" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477126" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477127" "" "" "" "2" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477128" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477129" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477130" "" "" "" "3" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477131" "" "" "" "3" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477132" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477133" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477134" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477135" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477136" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477137" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477138" "" "" "" "1" "" "00006" "{PMID:Jordan 2024:37921973}" "analysis 810 cases POF" "F" "" "" "" "0" "" "" "" "" "00477148" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "Pat3" "00477150" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "Pat5" "00477153" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "Pat8" "00477154" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "Pat9" "00477155" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "Pat10" "00477157" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "Pat12" "00477159" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "Pat14" "00477160" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477161" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477162" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477163" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477164" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477165" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477166" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477167" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477168" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477169" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477170" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477171" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477172" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477173" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477174" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477175" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" "00477176" "" "" "" "1" "" "00006" "{PMID:Eskenazi 2021:34095689}" "analysis 269 cases POI" "F" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 123 "{{individualid}}" "{{diseaseid}}" "00101241" "04187" "00294348" "00198" "00324127" "04187" "00324129" "04187" "00402737" "03040" "00477045" "04187" "00477046" "04187" "00477047" "04187" "00477048" "04187" "00477049" "04187" "00477050" "04187" "00477051" "04187" "00477052" "04187" "00477053" "04187" "00477054" "04187" "00477055" "04187" "00477056" "04187" "00477057" "04187" "00477058" "04187" "00477059" "04187" "00477060" "04187" "00477061" "04187" "00477062" "04187" "00477063" "04187" "00477064" "04187" "00477065" "04187" "00477066" "04187" "00477067" "04187" "00477068" "04187" "00477069" "04187" "00477070" "04187" "00477071" "04187" "00477072" "04187" "00477073" "04187" "00477074" "04187" "00477075" "04187" "00477076" "04187" "00477077" "04187" "00477078" "04187" "00477079" "04187" "00477080" "04187" "00477081" "04187" "00477082" "04187" "00477083" "04187" "00477084" "04187" "00477085" "04187" "00477086" "04187" "00477087" "04187" "00477088" "04187" "00477089" "04187" "00477090" "04187" "00477091" "04187" "00477092" "04187" "00477093" "04187" "00477094" "04187" "00477095" "04187" "00477096" "04187" "00477097" "04187" "00477098" "04187" "00477099" "04187" "00477100" "04187" "00477101" "04187" "00477102" "04187" "00477103" "04187" "00477104" "04187" "00477105" "04187" "00477106" "04187" "00477107" "04187" "00477108" "04187" "00477109" "04187" "00477110" "04187" "00477111" "04187" "00477112" "04187" "00477113" "04187" "00477114" "04187" "00477115" "04187" "00477116" "04187" "00477117" "04187" "00477118" "04187" "00477119" "04187" "00477120" "04187" "00477121" "04187" "00477122" "04187" "00477123" "04187" "00477124" "04187" "00477125" "04187" "00477126" "04187" "00477127" "04187" "00477128" "04187" "00477129" "04187" "00477130" "04187" "00477131" "04187" "00477132" "04187" "00477133" "04187" "00477134" "04187" "00477135" "04187" "00477136" "04187" "00477137" "04187" "00477138" "04187" "00477148" "04187" "00477150" "04187" "00477153" "04187" "00477154" "04187" "00477155" "04187" "00477157" "04187" "00477159" "04187" "00477160" "04187" "00477161" "04187" "00477162" "04187" "00477163" "04187" "00477164" "04187" "00477165" "04187" "00477166" "04187" "00477167" "04187" "00477168" "04187" "00477169" "04187" "00477170" "04187" "00477171" "04187" "00477172" "04187" "00477173" "04187" "00477174" "04187" "00477175" "04187" "00477176" "04187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03040, 04187 ## Count = 94 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000079483" "04187" "00101241" "01666" "Unknown" "" ". The serum FSH level of the patient who carried DelG\r\nmutation was 51.07 IU/l; LH = 27.69 IU/l; E2 (estradiol) = 82.64 pmol/l;\r\ntestosterone (T) = 1.94 nmol/l; prolactin = 15.85 ng/ml." "" "" "" "" "" "" "" "" "" "" "" "0000242708" "04187" "00324127" "03948" "Familial, autosomal recessive" "32y" "primary amenorrhea and delayed puberty" "" "17y" "17y" "" "" "" "" "" "premature ovarian insufficiency" "hypergonadotropic hypogonadism" "" "0000242711" "04187" "00324129" "03948" "Familial, autosomal recessive" "32y" "primary amenorrhea and delayed puberty" "" "17y" "17y" "" "" "" "" "" "premature ovarian insufficiency" "hypergonadotropic hypogonadism" "" "0000295555" "03040" "00402737" "03948" "Unknown" "" "premature ovarian insufficiency; 20y-hypergonadotrophic hypogonadism, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "premature ovarian failure" "" "0000361683" "04187" "00477045" "00006" "Unknown" "" "primary amenorrhea, absent puberty" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361684" "04187" "00477046" "00006" "Unknown" "" "21y-secondary amenorrhea, normal puberty" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361685" "04187" "00477047" "00006" "Unknown" "" "primary amenorrhea, delayed puberty" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361686" "04187" "00477048" "00006" "Unknown" "" "23y-secondary amenorrhea, normal puberty" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361687" "04187" "00477049" "00006" "Unknown" "" "16y-secondary amenorrhea, , normal puberty" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361688" "04187" "00477050" "00006" "Unknown" "" "primary amenorrhea, delayed puberty" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361689" "04187" "00477051" "00006" "Unknown" "" "normal puberty, 28y-secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361690" "04187" "00477052" "00006" "Unknown" "" "normal puberty, 34y-secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361691" "04187" "00477053" "00006" "Unknown" "" "normal puberty, 27y-secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361692" "04187" "00477054" "00006" "Unknown" "" "normal puberty, 26y-secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361693" "04187" "00477055" "00006" "Unknown" "" "normal puberty, 36y-secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361694" "04187" "00477056" "00006" "Unknown" "" "normal puberty, 37y-secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361695" "04187" "00477082" "00006" "Unknown" "28y" "see paper; ..., normal puberty, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361696" "04187" "00477083" "00006" "Unknown" "36y" "see paper; ..., normal puberty, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361697" "04187" "00477084" "00006" "Unknown" "38y" "see paper; ..., normal puberty, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361698" "04187" "00477085" "00006" "Unknown" "34y" "see paper; ..., normal puberty, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361699" "04187" "00477086" "00006" "Unknown" "39y" "see paper; ..., normal puberty, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361700" "04187" "00477087" "00006" "Unknown" "16y" "see paper; ..., no puberty, primary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361701" "04187" "00477088" "00006" "Unknown" "15y" "see paper; ..., no puberty, primary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361702" "04187" "00477089" "00006" "Unknown" "40y" "see paper; ..., normal puberty, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361703" "04187" "00477090" "00006" "Unknown" "37y" "see paper; ..., normal puberty, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361704" "04187" "00477091" "00006" "Unknown" "28y" "see paper; ..., normal puberty, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361705" "04187" "00477092" "00006" "Unknown" "29y" "see paper; ..., normal puberty, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361706" "04187" "00477093" "00006" "Unknown" "38y" "see paper; ..., normal puberty, secondary amenorrhea" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361707" "04187" "00477095" "00006" "Familial, autosomal recessive" "" "see paper; ..., premature ovarian failure" "" "" "" "" "" "" "" "" "POF5" "premature ovarian failure" "" "0000361708" "04187" "00477074" "00006" "Unknown" "" "see paper; ..., mild phenotype, normal puberty, 11y-menarche, two healthy children, 32y-menopause" "" "" "" "" "" "" "" "" "POF5" "" "" "0000361709" "04187" "00477097" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary amenorrhea, elevatedserum FSH level (51.07 IU/?)" "" "" "" "" "" "" "" "" "POF5" "primary ovarian insufficiency" "" "0000361710" "04187" "00477100" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361711" "04187" "00477101" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361712" "04187" "00477102" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361713" "04187" "00477103" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361714" "04187" "00477104" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361715" "04187" "00477105" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361716" "04187" "00477106" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361717" "04187" "00477107" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361718" "04187" "00477108" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361719" "04187" "00477109" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361720" "04187" "00477110" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361721" "04187" "00477111" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361722" "04187" "00477112" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361723" "04187" "00477113" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361724" "04187" "00477114" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361725" "04187" "00477115" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361726" "04187" "00477116" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361727" "04187" "00477117" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361728" "04187" "00477118" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361729" "04187" "00477119" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361730" "04187" "00477120" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361731" "04187" "00477121" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361732" "04187" "00477122" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361733" "04187" "00477123" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361734" "04187" "00477124" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361735" "04187" "00477125" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361736" "04187" "00477126" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361737" "04187" "00477127" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361738" "04187" "00477128" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361739" "04187" "00477129" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361740" "04187" "00477130" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361741" "04187" "00477131" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361742" "04187" "00477132" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361743" "04187" "00477133" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361744" "04187" "00477134" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361745" "04187" "00477135" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361746" "04187" "00477136" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361747" "04187" "00477137" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361748" "04187" "00477138" "00006" "Unknown" "" "primary or secondary amenorrhea; elevated FSH (>25 UI/L)" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361755" "04187" "00477148" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361757" "04187" "00477150" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361760" "04187" "00477153" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361761" "04187" "00477154" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361762" "04187" "00477155" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361764" "04187" "00477157" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361766" "04187" "00477159" "00006" "Unknown" "" "primary amenorrhea" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361767" "04187" "00477160" "00006" "Unknown" "" "primary amenorrhea" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361768" "04187" "00477161" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361769" "04187" "00477162" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361770" "04187" "00477163" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361771" "04187" "00477164" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361772" "04187" "00477165" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361773" "04187" "00477166" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361774" "04187" "00477167" "00006" "Unknown" "" "primary amenorrhea" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361775" "04187" "00477168" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361776" "04187" "00477169" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361777" "04187" "00477170" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361778" "04187" "00477171" "00006" "Unknown" "" "primary amenorrhea" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361779" "04187" "00477172" "00006" "Unknown" "" "primary amenorrhea" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361780" "04187" "00477173" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361781" "04187" "00477174" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361782" "04187" "00477175" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" "0000361783" "04187" "00477176" "00006" "Unknown" "" "secondary menstrual disturbance" "" "" "" "" "" "" "" "" "" "primary ovarian insufficiency" "" ## Screenings ## Do not remove or alter this header ## ## Count = 123 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000101685" "00101241" "1" "01666" "01666" "2017-03-24 05:24:34" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000295516" "00294348" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325318" "00324127" "1" "03948" "03948" "2020-12-01 15:04:13" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000325319" "00324129" "1" "03948" "03948" "2020-12-01 15:41:25" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000403978" "00402737" "1" "03948" "03948" "2022-02-09 13:44:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000478689" "00477045" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478690" "00477046" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478691" "00477047" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478692" "00477048" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478693" "00477049" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478694" "00477050" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478695" "00477051" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478696" "00477052" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478697" "00477053" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478698" "00477054" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478699" "00477055" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478700" "00477056" "1" "00006" "00006" "2026-04-21 15:19:06" "" "" "SEQ" "DNA" "" "" "0000478701" "00477057" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478702" "00477058" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478703" "00477059" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478704" "00477060" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478705" "00477061" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478706" "00477062" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478707" "00477063" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478708" "00477064" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478709" "00477065" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478710" "00477066" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478711" "00477067" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478712" "00477068" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478713" "00477069" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478714" "00477070" "1" "00006" "00006" "2026-04-21 16:34:24" "" "" "SEQ" "DNA" "" "" "0000478715" "00477071" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478716" "00477072" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478717" "00477073" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478718" "00477074" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478719" "00477075" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478720" "00477076" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478721" "00477077" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478722" "00477078" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478723" "00477079" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478724" "00477080" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478725" "00477081" "1" "00006" "00006" "2026-04-21 16:56:40" "" "" "SEQ" "DNA" "" "" "0000478726" "00477082" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478727" "00477083" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478728" "00477084" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478729" "00477085" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478730" "00477086" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478731" "00477087" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478732" "00477088" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478733" "00477089" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478734" "00477090" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478735" "00477091" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478736" "00477092" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478737" "00477093" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478738" "00477094" "1" "00006" "00006" "2026-04-22 09:03:09" "" "" "SEQ" "DNA" "" "" "0000478739" "00477095" "1" "00006" "00006" "2026-04-22 09:11:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000478740" "00477096" "1" "00006" "00006" "2026-04-22 09:22:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000478741" "00477097" "1" "00006" "00006" "2026-04-22 09:29:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000478742" "00477098" "1" "00006" "00006" "2026-04-22 09:31:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000478743" "00477099" "1" "00006" "00006" "2026-04-22 09:33:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000478744" "00477100" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478745" "00477101" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478746" "00477102" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478747" "00477103" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478748" "00477104" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478749" "00477105" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478750" "00477106" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478751" "00477107" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478752" "00477108" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478753" "00477109" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478754" "00477110" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478755" "00477111" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478756" "00477112" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478757" "00477113" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478758" "00477114" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478759" "00477115" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478760" "00477116" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478761" "00477117" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478762" "00477118" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478763" "00477119" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478764" "00477120" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478765" "00477121" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478766" "00477122" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478767" "00477123" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478768" "00477124" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478769" "00477125" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478770" "00477126" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478771" "00477127" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478772" "00477128" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478773" "00477129" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478774" "00477130" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478775" "00477131" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478776" "00477132" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478777" "00477133" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478778" "00477134" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478779" "00477135" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478780" "00477136" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478781" "00477137" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478782" "00477138" "1" "00006" "00006" "2026-04-22 11:28:35" "" "" "SEQ" "DNA" "" "7-gene panel" "0000478792" "00477148" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478794" "00477150" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478797" "00477153" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478798" "00477154" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478799" "00477155" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478801" "00477157" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478803" "00477159" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478804" "00477160" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478805" "00477161" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478806" "00477162" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478807" "00477163" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478808" "00477164" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478809" "00477165" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478810" "00477166" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478811" "00477167" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478812" "00477168" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478813" "00477169" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478814" "00477170" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478815" "00477171" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478816" "00477172" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478817" "00477173" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478818" "00477174" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478819" "00477175" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" "0000478820" "00477176" "1" "00006" "00006" "2026-04-23 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "18-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 93 "{{screeningid}}" "{{geneid}}" "0000101685" "NOBOX" "0000325318" "NOBOX" "0000325319" "NOBOX" "0000403978" "NOBOX" "0000478689" "NOBOX" "0000478690" "NOBOX" "0000478691" "NOBOX" "0000478692" "NOBOX" "0000478693" "NOBOX" "0000478694" "NOBOX" "0000478695" "NOBOX" "0000478696" "NOBOX" "0000478697" "NOBOX" "0000478698" "NOBOX" "0000478699" "NOBOX" "0000478700" "NOBOX" "0000478701" "NOBOX" "0000478702" "NOBOX" "0000478703" "NOBOX" "0000478704" "NOBOX" "0000478705" "NOBOX" "0000478706" "NOBOX" "0000478707" "NOBOX" "0000478708" "NOBOX" "0000478709" "NOBOX" "0000478710" "NOBOX" "0000478711" "NOBOX" "0000478712" "NOBOX" "0000478713" "NOBOX" "0000478714" "NOBOX" "0000478715" "NOBOX" "0000478716" "NOBOX" "0000478717" "NOBOX" "0000478718" "NOBOX" "0000478719" "NOBOX" "0000478720" "NOBOX" "0000478721" "NOBOX" "0000478722" "NOBOX" "0000478723" "NOBOX" "0000478724" "NOBOX" "0000478725" "NOBOX" "0000478726" "NOBOX" "0000478727" "NOBOX" "0000478728" "NOBOX" "0000478729" "NOBOX" "0000478730" "NOBOX" "0000478731" "NOBOX" "0000478732" "NOBOX" "0000478733" "NOBOX" "0000478734" "NOBOX" "0000478735" "NOBOX" "0000478736" "NOBOX" "0000478737" "NOBOX" "0000478738" "NOBOX" "0000478744" "NOBOX" "0000478745" "NOBOX" "0000478746" "NOBOX" "0000478747" "NOBOX" "0000478748" "NOBOX" "0000478749" "NOBOX" "0000478750" "NOBOX" "0000478751" "NOBOX" "0000478752" "NOBOX" "0000478753" "NOBOX" "0000478754" "NOBOX" "0000478755" "NOBOX" "0000478756" "NOBOX" "0000478757" "NOBOX" "0000478758" "NOBOX" "0000478759" "NOBOX" "0000478760" "NOBOX" "0000478761" "NOBOX" "0000478762" "NOBOX" "0000478763" "NOBOX" "0000478764" "NOBOX" "0000478765" "NOBOX" "0000478766" "NOBOX" "0000478767" "NOBOX" "0000478768" "NOBOX" "0000478769" "NOBOX" "0000478770" "NOBOX" "0000478771" "NOBOX" "0000478772" "NOBOX" "0000478773" "NOBOX" "0000478774" "NOBOX" "0000478775" "NOBOX" "0000478776" "NOBOX" "0000478777" "NOBOX" "0000478778" "NOBOX" "0000478779" "NOBOX" "0000478780" "NOBOX" "0000478781" "NOBOX" "0000478782" "NOBOX" ## 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 = 146 "{{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}}" "0000164358" "3" "90" "7" "144098161" "144098161" "del" "0" "01666" "NOBOX_000001" "g.144098161del" "" "{PMID:Li 2017:27836978}" "" "NM_001080413.2:c.567delG" "" "Germline" "?" "" "0" "" "" "g.144401068del" "" "pathogenic" "" "0000164567" "0" "90" "7" "144098161" "144098161" "del" "0" "00006" "NOBOX_000001" "g.144098161del" "" "{PMID:Li 2017:27836978}" "" "" "cDNA expression cloning in 293FT cells showed normal protein expression (truncated), reduced (0.2) GDF9 promoter activation and reduced gene expression activation of CPSF4L, MYOT,\r\nRFPL4A, UNC13C, GDF9, NLRP14 and RSPO2" "In vitro (cloned)" "-" "" "0" "" "" "g.144401068del" "" "NA" "" "0000248767" "0" "10" "7" "144095600" "144095600" "subst" "0.633938" "02325" "NOBOX_000002" "g.144095600A>G" "" "" "" "NOBOX(NM_001080413.3):c.1549T>C (p.F517L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144398507A>G" "" "benign" "" "0000249109" "0" "10" "7" "144096839" "144096839" "subst" "0.633144" "02325" "NOBOX_000003" "g.144096839A>G" "" "" "" "NOBOX(NM_001080413.3):c.1154+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399746A>G" "" "benign" "" "0000296512" "0" "10" "7" "144098992" "144098992" "subst" "0.632086" "02325" "NOBOX_000005" "g.144098992G>A" "" "" "" "NOBOX(NM_001080413.3):c.262C>T (p.L88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144401899G>A" "" "benign" "" "0000304226" "0" "50" "7" "144098963" "144098976" "del" "0" "01943" "NOBOX_000004" "g.144098963_144098976del" "" "" "" "NOBOX(NM_001080413.3):c.280_292+1delGAACTCACAAGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144401870_144401883del" "" "VUS" "" "0000341373" "0" "90" "7" "144097293" "144097293" "del" "0" "02327" "NOBOX_000006" "g.144097293del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144400200del" "" "pathogenic" "" "0000531108" "0" "30" "7" "144095499" "144095499" "subst" "1.45605E-5" "01943" "NOBOX_000007" "g.144095499C>T" "" "" "" "NOBOX(NM_001080413.3):c.1650G>A (p.T550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144398406C>T" "" "likely benign" "" "0000531109" "0" "30" "7" "144098652" "144098652" "subst" "8.04147E-5" "01943" "NOBOX_000008" "g.144098652C>T" "" "" "" "NOBOX(NM_001080413.3):c.331G>A (p.G111R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144401559C>T" "" "likely benign" "" "0000652205" "1" "90" "7" "144096940" "144096940" "subst" "0.000163281" "03575" "NOBOX_000009" "g.144096940C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201947677}" "Germline" "" "rs201947677" "0" "" "" "g.144399847C>T" "" "pathogenic" "" "0000678013" "0" "50" "7" "144107254" "144107254" "subst" "0" "02327" "NOBOX_000010" "g.144107254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708291" "11" "90" "7" "144098157" "144098157" "subst" "0" "03948" "NOBOX_000012" "g.144098157G>A" "" "{PMID:Sassi 2021:34480423}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.144401064G>A" "" "pathogenic (recessive)" "ACMG" "0000708292" "21" "90" "7" "144096092" "144096092" "del" "0" "03948" "NOBOX_000011" "g.144096092del" "" "{PMID:Sassi 2021:34480423}" "" "1421delG" "ACMG PVS1, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.144398999del" "" "pathogenic (recessive)" "ACMG" "0000839554" "0" "50" "7" "144098995" "144098995" "subst" "4.06749E-6" "03948" "NOBOX_000013" "g.144098995G>T" "0,0000289" "" "" "" "" "Germline" "?" "" "0" "" "" "g.144401902G>T" "" "VUS" "" "0000851504" "0" "50" "7" "144096925" "144096925" "subst" "0.00031372" "02325" "NOBOX_000014" "g.144096925C>T" "" "" "" "NOBOX(NM_001080413.3):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977560" "0" "70" "7" "144107242" "144107242" "subst" "0" "01804" "NOBOX_000015" "g.144107242G>A" "" "" "" "NOBOX(NM_001080413.3):c.79C>T (p.(Gln27*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996264" "0" "50" "7" "144097306" "144097306" "subst" "2.84294E-5" "01804" "NOBOX_000016" "g.144097306C>T" "" "" "" "NOBOX(NM_001080413.3):c.944G>A (p.(Arg315His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996265" "0" "50" "7" "144099032" "144099032" "subst" "0" "01804" "NOBOX_000017" "g.144099032A>T" "" "" "" "NOBOX(NM_001080413.3):c.222T>A (p.(Asp74Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014317" "0" "50" "7" "144096038" "144096038" "subst" "0.000120229" "02325" "NOBOX_000018" "g.144096038C>T" "" "" "" "NOBOX(NM_001080413.3):c.1469+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036179" "0" "30" "7" "144094418" "144094418" "subst" "0.0302428" "01804" "NOBOX_000019" "g.144094418T>C" "" "" "" "NOBOX(NM_001080413.3):c.1991A>G (p.(Lys664Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001060955" "21" "90" "7" "144096091" "144096091" "del" "0" "03948" "NOBOX_000011" "g.144096091del" "" "{PMID:Sassi 2021:34480423}" "" "1421delG" "ACMG PVS1, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.144398999del" "" "pathogenic (recessive)" "ACMG" "0001060956" "11" "90" "7" "144098157" "144098157" "subst" "0" "03948" "NOBOX_000012" "g.144098157G>A" "" "{PMID:Sassi 2021:34480423}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.144401064G>A" "" "pathogenic (recessive)" "ACMG" "0001074509" "0" "70" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.01)" "Germline/De novo (untested)" "" "" "0" "" "" "g.144401890C>A" "" "likely pathogenic (dominant)" "" "0001074510" "0" "70" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.01)" "De novo" "" "" "0" "" "" "g.144401890C>A" "" "likely pathogenic (dominant)" "" "0001074511" "1" "70" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05)" "Germline" "yes" "" "0" "" "" "g.144401541G>A" "" "likely pathogenic (dominant)" "" "0001074512" "1" "70" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05)" "Germline" "yes" "" "0" "" "" "g.144401541G>A" "" "likely pathogenic (dominant)" "" "0001074513" "0" "70" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05)" "Germline/De novo (untested)" "" "" "0" "" "" "g.144401541G>A" "" "likely pathogenic (dominant)" "" "0001074514" "0" "70" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05)" "Germline/De novo (untested)" "" "" "0" "" "" "g.144401541G>A" "" "likely pathogenic (dominant)" "" "0001074515" "0" "70" "7" "144097343" "144097343" "subst" "4.06105E-6" "00006" "NOBOX_000056" "g.144097343G>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05)" "Germline/De novo (untested)" "" "" "0" "" "" "g.144400250G>A" "" "likely pathogenic (dominant)" "" "0001074516" "0" "70" "7" "144097225" "144097225" "subst" "4.06564E-6" "00006" "NOBOX_000054" "g.144097225C>G" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05)" "Germline/De novo (untested)" "" "" "0" "" "" "g.144400132C>G" "" "likely pathogenic (dominant)" "" "0001074517" "0" "70" "7" "144097225" "144097225" "subst" "4.06564E-6" "00006" "NOBOX_000054" "g.144097225C>G" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05)" "Germline/De novo (untested)" "" "" "0" "" "" "g.144400132C>G" "" "likely pathogenic (dominant)" "" "0001074518" "0" "70" "7" "144097225" "144097225" "subst" "4.06564E-6" "00006" "NOBOX_000054" "g.144097225C>G" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05)" "Germline/De novo (untested)" "" "" "0" "" "" "g.144400132C>G" "" "likely pathogenic (dominant)" "" "0001074519" "0" "70" "7" "144097225" "144097225" "subst" "4.06564E-6" "00006" "NOBOX_000054" "g.144097225C>G" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05)" "Germline/De novo (untested)" "" "" "0" "" "" "g.144400132C>G" "" "likely pathogenic (dominant)" "" "0001074520" "0" "70" "7" "144096956" "144096956" "subst" "0" "00006" "NOBOX_000051" "g.144096956C>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes; significant decrease in transactivation GDF9 reporter gene (P<0.05)" "Germline/De novo (untested)" "" "" "0" "" "" "g.144399863C>A" "" "likely pathogenic (dominant)" "" "0001074521" "1" "10" "7" "144107279" "144107279" "subst" "0.147268" "00006" "NOBOX_000076" "g.144107279A>G" "" "{PMID:Bouilly 2011:21837770}" "" "" "22/174 cases (heterozygous)" "Germline" "" "rs1208179" "0" "" "" "g.144410186A>G" "" "benign" "" "0001074522" "1" "30" "7" "144107255" "144107255" "subst" "0.00552025" "00006" "NOBOX_000075" "g.144107255A>G" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes, 3/174 cases" "Germline" "" "" "0" "" "" "g.144410162A>G" "" "likely benign" "" "0001074523" "3" "10" "7" "144098992" "144098992" "subst" "0.632086" "00006" "NOBOX_000005" "g.144098992G>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "55/174 cases (homozygous)" "Germline" "" "rs727714" "0" "" "" "g.144401899G>A" "" "benign" "" "0001074524" "3" "10" "7" "144098923" "144098923" "subst" "0" "00006" "NOBOX_000068" "g.144098923G>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "3/174 cases (homozygous)" "Germline" "" "" "0" "" "" "g.144401830G>A" "" "benign" "" "0001074525" "3" "10" "7" "144098897" "144098897" "subst" "0" "00006" "NOBOX_000067" "g.144098897A>C" "" "{PMID:Bouilly 2011:21837770}" "" "" "58/174 cases (homozygous)" "Germline" "" "rs727713" "0" "" "" "g.144401804A>C" "" "benign" "" "0001074526" "1" "30" "7" "144098761" "144098761" "subst" "0" "00006" "NOBOX_000066" "g.144098761C>T" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes, 2/178 cases" "Germline" "" "" "0" "" "" "g.144401668C>T" "" "likely benign" "" "0001074527" "1" "30" "7" "144098713" "144098713" "subst" "0" "00006" "NOBOX_000065" "g.144098713G>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "1 homozygote in 362 controls, no heterozygous controls, 1/178 cases" "Germline" "" "" "0" "" "" "g.144401620G>A" "" "likely benign" "" "0001074528" "3" "30" "7" "144098503" "144098503" "subst" "6.17782E-5" "00006" "NOBOX_000061" "g.144098503C>T" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes, 1/178 cases (homozygous)" "Germline" "" "" "0" "" "" "g.144401410C>T" "" "likely benign" "" "0001074529" "1" "30" "7" "144097287" "144097287" "subst" "0.000243677" "00006" "NOBOX_000055" "g.144097287G>A" "" "{PMID:Bouilly 2011:21837770}" "" "" "not in 724 control chromosomes, 1/178 cases" "Germline" "" "" "0" "" "" "g.144400194G>A" "" "likely benign" "" "0001074530" "3" "10" "7" "144096839" "144096839" "subst" "0.633144" "00006" "NOBOX_000003" "g.144096839A>G" "" "{PMID:Bouilly 2011:21837770}" "" "" "56/174 cases (homozygous)" "Germline" "" "rs757388" "0" "" "" "g.144399746A>G" "" "benign" "" "0001074531" "3" "10" "7" "144096456" "144096456" "subst" "0.477668" "00006" "NOBOX_000044" "g.144096456C>T" "" "{PMID:Bouilly 2011:21837770}" "" "" "33/174 cases (homozygous)" "Germline" "" "rs11769787" "0" "" "" "g.144399363C>T" "" "benign" "" "0001074532" "1" "10" "7" "144096204" "144096204" "subst" "4.2742E-6" "00006" "NOBOX_000043" "g.144096204C>T" "" "{PMID:Bouilly 2011:21837770}" "" "1306G>A (synonymous)" "52/362 heterozygous controls, 1/178 cases" "Germline" "" "" "0" "" "" "g.144399111C>T" "" "benign" "" "0001074533" "1" "10" "7" "144096162" "144096162" "subst" "0" "00006" "NOBOX_000041" "g.144096162C>T" "" "{PMID:Bouilly 2011:21837770}" "" "" "17/362 heterozygous controls, 1/178 cases" "Germline" "" "" "0" "" "" "g.144399069C>T" "" "benign" "" "0001074534" "3" "10" "7" "144096068" "144096068" "subst" "0.160032" "00006" "NOBOX_000039" "g.144096068C>T" "" "{PMID:Bouilly 2011:21837770}" "" "" "8/174 cases (homozygous)" "Germline" "" "rs2525702" "0" "" "" "g.144398975C>T" "" "benign" "" "0001074535" "1" "10" "7" "144107279" "144107279" "subst" "0.147268" "00006" "NOBOX_000076" "g.144107279A>G" "" "{PMID:Qin 2007:17701902}" "" "" "27/96 heterozygous cases" "Germline" "" "rs1208179" "0" "" "" "g.144410186A>G" "" "benign" "" "0001074536" "1" "30" "7" "144107255" "144107255" "subst" "0.00552025" "00006" "NOBOX_000075" "g.144107255A>G" "" "{PMID:Qin 2007:17701902}" "" "" "not in 278 controls, 1/96 heterozygous cases" "Germline" "" "" "0" "" "" "g.144410162A>G" "" "likely benign" "" "0001074537" "3" "10" "7" "144098992" "144098992" "subst" "0.632086" "00006" "NOBOX_000005" "g.144098992G>A" "" "{PMID:Qin 2007:17701902}" "" "" "41/96 homozygous cases" "Germline" "" "rs727714" "0" "" "" "g.144401899G>A" "" "benign" "" "0001074538" "1" "70" "7" "144096940" "144096940" "subst" "0.000163281" "00006" "NOBOX_000009" "g.144096940C>T" "" "{PMID:Qin 2007:17701902}" "" "" "not in 278 controls, 1/96 heterozygous cases; electrophoretic mobility shift assay (EMSA) confirms variant disrupts binding to NOBOX DNA-binding element" "Germline" "" "" "0" "" "" "g.144399847C>T" "" "likely pathogenic (dominant)" "" "0001074539" "1" "50" "7" "144096925" "144096925" "subst" "0.00031372" "00006" "NOBOX_000014" "g.144096925C>T" "" "{PMID:Qin 2007:17701902}" "" "" "4/278 controls, 1/96 heterozygous cases" "Germline" "" "" "0" "" "" "g.144399832C>T" "" "VUS" "" "0001074540" "3" "10" "7" "144096839" "144096839" "subst" "0.633144" "00006" "NOBOX_000003" "g.144096839A>G" "" "{PMID:Qin 2007:17701902}" "" "" "41/96 homozygous cases" "Germline" "" "rs757388" "0" "" "" "g.144399746A>G" "" "benign" "" "0001074541" "3" "10" "7" "144096597" "144096597" "subst" "0" "00006" "NOBOX_000046" "g.144096597A>T" "" "{PMID:Qin 2007:17701902}" "" "" "41/96 homozygous cases" "Germline" "" "rs11769847" "0" "" "" "g.144399504A>T" "" "benign" "" "0001074542" "1" "30" "7" "144096158" "144096158" "subst" "0.0110216" "00006" "NOBOX_000040" "g.144096158C>T" "" "{PMID:Qin 2007:17701902}" "" "" "29/278 controls, 1/96 heterozygous cases" "Germline" "" "" "0" "" "" "g.144399065C>T" "" "likely benign" "" "0001074543" "1" "10" "7" "144096068" "144096068" "subst" "0.160032" "00006" "NOBOX_000039" "g.144096068C>T" "" "{PMID:Qin 2007:17701902}" "" "" "1/96 homozygous cases, 27/96 heterozygous cases" "Germline" "" "rs2525702" "0" "" "" "g.144398975C>T" "" "benign" "" "0001074544" "3" "10" "7" "144095730" "144095730" "subst" "0" "00006" "NOBOX_000037" "g.144095730C>A" "" "{PMID:Qin 2007:17701902}" "" "" "39/96 homozygous cases" "Germline" "" "rs11979528" "0" "" "" "g.144398637C>A" "" "benign" "" "0001074545" "3" "10" "7" "144095600" "144095600" "subst" "0.633938" "00006" "NOBOX_000002" "g.144095600A>G" "" "{PMID:Qin 2007:17701902}" "" "" "26/96 homozygous cases" "Germline" "" "rs2699503" "0" "" "" "g.144398507A>G" "" "benign" "" "0001074546" "0" "90" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "pathogenic" "" "0001074547" "0" "90" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "pathogenic" "" "0001074548" "0" "90" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "pathogenic" "" "0001074549" "0" "90" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "pathogenic" "" "0001074550" "0" "90" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "pathogenic" "" "0001074551" "0" "90" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "pathogenic" "" "0001074552" "0" "90" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "pathogenic" "" "0001074553" "0" "90" "7" "144098652" "144098652" "subst" "8.04147E-5" "00006" "NOBOX_000008" "g.144098652C>T" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "" "0" "" "" "g.144401559C>T" "" "pathogenic" "" "0001074554" "0" "90" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs7800847" "0" "" "" "g.144401541G>A" "" "pathogenic" "" "0001074555" "0" "90" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs7800847" "0" "" "" "g.144401541G>A" "" "pathogenic" "" "0001074556" "0" "90" "7" "144096892" "144096892" "subst" "0.0001752" "00006" "NOBOX_000047" "g.144096892T>G" "" "{PMID:Bouilly 2015:25514101}" "" "" "total loss transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs1893066575" "0" "" "" "g.144399799T>G" "" "pathogenic" "" "0001074557" "0" "50" "7" "144094553" "144094553" "subst" "0.00111311" "00006" "NOBOX_000026" "g.144094553G>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "significant decrease (0.30) transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs1466227301" "0" "" "" "g.144397460G>A" "" "VUS" "" "0001074558" "0" "30" "7" "144101728" "144101728" "subst" "0.00145803" "00006" "NOBOX_000073" "g.144101728C>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "no effect on transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs115206969" "0" "" "" "g.144404635C>A" "" "likely benign" "" "0001074559" "0" "50" "7" "144094553" "144094553" "subst" "0.00111311" "00006" "NOBOX_000026" "g.144094553G>A" "" "{PMID:Bouilly 2015:25514101}" "" "" "significant decrease (0.30) transactivation KIT-L/GDF9 reporter" "Germline/De novo (untested)" "" "rs1466227301" "0" "" "" "g.144397460G>A" "" "VUS" "" "0001074560" "3" "90" "7" "144095660" "144095660" "del" "2.96397E-5" "00006" "NOBOX_000020" "g.144095660del" "" "" "" "1489delT" "" "Germline" "yes" "" "0" "" "" "g.144398567del" "" "pathogenic (recessive)" "" "0001074561" "3" "70" "7" "144096926" "144096926" "subst" "0" "00006" "NOBOX_000021" "g.144096926G>A" "" "{PMID:Jolly 2019:31042289}" "" "" "" "Germline" "" "" "0" "" "" "g.144399833G>A" "" "likely pathogenic" "" "0001074562" "3" "90" "7" "144098416" "144098416" "del" "0" "00006" "NOBOX_000022" "g.144098416del" "" "{PMID:Li 2017:27836978}" "" "567delG" "" "Germline" "" "" "0" "" "" "g.144401323del" "" "pathogenic" "" "0001074563" "1" "30" "7" "144107253" "144107253" "subst" "0.000190923" "00006" "NOBOX_000023" "g.144107253C>T" "" "{PMID:Li 2017:27836978}" "" "" "" "Germline" "" "rs563911669" "0" "" "" "g.144410160C>T" "" "likely benign" "" "0001074564" "0" "30" "7" "144098633" "144098633" "subst" "3.05064E-5" "00006" "NOBOX_000024" "g.144098633C>T" "" "{PMID:Li 2017:27836978}" "" "" "" "Germline" "" "rs528754192" "0" "" "" "g.144401540C>T" "" "likely benign" "" "0001074566" "0" "50" "7" "144101767" "144101767" "subst" "4.06372E-6" "00006" "NOBOX_000074" "g.144101767G>A" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144404674G>A" "" "VUS" "" "0001074567" "0" "50" "7" "144101728" "144101728" "subst" "0.00145803" "00006" "NOBOX_000073" "g.144101728C>A" "14/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "overrepresented in POI cohort, no significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144404635C>A" "" "VUS" "" "0001074568" "0" "30" "7" "144101721" "144101721" "subst" "0.000105597" "00006" "NOBOX_000072" "g.144101721G>T" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "not overrepresented in POI cohort" "Germline" "" "" "0" "" "" "g.144404628G>T" "" "likely benign" "" "0001074569" "0" "30" "7" "144101695" "144101697" "del" "0" "00006" "NOBOX_000071" "g.144101695_144101697del" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144404602_144404604del" "" "likely benign" "" "0001074570" "0" "30" "7" "144098989" "144098989" "subst" "0.000309177" "00006" "NOBOX_000070" "g.144098989C>A" "3/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144401896C>A" "" "likely benign" "" "0001074571" "0" "50" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "32/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "overrepresented in POI cohort, significant overrepresentation African POI cohort, significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144401890C>A" "" "VUS" "" "0001074572" "0" "30" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "36/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "no significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144401541G>A" "" "likely benign" "" "0001074573" "0" "30" "7" "144098621" "144098621" "subst" "0.000487365" "00006" "NOBOX_000063" "g.144098621G>A" "4/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144401528G>A" "" "likely benign" "" "0001074574" "0" "50" "7" "144098529" "144098529" "subst" "0.00333637" "00006" "NOBOX_000062" "g.144098529C>T" "12/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "overrepresented in POI cohort, no significant overrepresentation African POI cohort, significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144401436C>T" "" "VUS" "" "0001074575" "0" "50" "7" "144098496" "144098496" "subst" "8.27328E-5" "00006" "NOBOX_000059" "g.144098496G>A" "2/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144401403G>A" "" "VUS" "" "0001074576" "0" "50" "7" "144098496" "144098496" "subst" "0.000918334" "00006" "NOBOX_000060" "g.144098496G>C" "3/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144401403G>C" "" "VUS" "" "0001074577" "0" "50" "7" "144098436" "144098436" "subst" "0" "00006" "NOBOX_000058" "g.144098436C>A" "2/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144401343C>A" "" "VUS" "" "0001074578" "0" "50" "7" "144098355" "144098355" "subst" "3.26576E-5" "00006" "NOBOX_000057" "g.144098355T>C" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144401262T>C" "" "VUS" "" "0001074579" "0" "50" "7" "144097219" "144097219" "subst" "1.62819E-5" "00006" "NOBOX_000053" "g.144097219C>T" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144400126C>T" "" "VUS" "" "0001074580" "0" "50" "7" "144097213" "144097213" "subst" "0.000154827" "00006" "NOBOX_000052" "g.144097213G>A" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144400120G>A" "" "VUS" "" "0001074581" "0" "50" "7" "144096941" "144096941" "subst" "0" "00006" "NOBOX_000050" "g.144096941G>A" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144399848G>A" "" "VUS" "" "0001074582" "1" "30" "7" "144096925" "144096925" "subst" "0.00031372" "00006" "NOBOX_000014" "g.144096925C>T" "5/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144399832C>T" "" "likely benign" "" "0001074583" "0" "50" "7" "144096929" "144096929" "subst" "1.62927E-5" "00006" "NOBOX_000048" "g.144096929A>G" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144399836A>G" "" "VUS" "" "0001074584" "0" "50" "7" "144096925" "144096925" "subst" "0.00031372" "00006" "NOBOX_000014" "g.144096925C>T" "5/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144399832C>T" "" "VUS" "" "0001074585" "0" "50" "7" "144096488" "144096488" "subst" "0" "00006" "NOBOX_000045" "g.144096488A>C" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144399395A>C" "" "VUS" "" "0001074586" "0" "50" "7" "144096182" "144096182" "subst" "0" "00006" "NOBOX_000042" "g.144096182T>A" "2/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144399089T>A" "" "VUS" "" "0001074587" "0" "50" "7" "144096158" "144096158" "subst" "0.0110216" "00006" "NOBOX_000040" "g.144096158C>T" "26/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "overrepresented in POI cohort, significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144399065C>T" "" "VUS" "" "0001074588" "0" "50" "7" "144096046" "144096046" "subst" "0" "00006" "NOBOX_000038" "g.144096046G>A" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144398953G>A" "" "VUS" "" "0001074589" "0" "50" "7" "144095665" "144095665" "subst" "8.89891E-5" "00006" "NOBOX_000036" "g.144095665G>A" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144398572G>A" "" "VUS" "" "0001074590" "0" "30" "7" "144095500" "144095500" "subst" "5.09573E-5" "00006" "NOBOX_000035" "g.144095500G>A" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144398407G>A" "" "likely benign" "" "0001074591" "0" "50" "7" "144095480" "144095481" "del" "0" "00006" "NOBOX_000034" "g.144095480_144095481del" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144398387_144398388del" "" "VUS" "" "0001074592" "0" "50" "7" "144095471" "144095471" "del" "0" "00006" "NOBOX_000033" "g.144095471del" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144398378del" "" "VUS" "" "0001074593" "0" "30" "7" "144095440" "144095440" "subst" "0.000167188" "00006" "NOBOX_000032" "g.144095440G>A" "2/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144398347G>A" "" "likely benign" "" "0001074594" "1" "50" "7" "144096158" "144096158" "subst" "0.0110216" "00006" "NOBOX_000040" "g.144096158C>T" "26/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "overrepresented in POI cohort, significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144399065C>T" "" "VUS" "" "0001074595" "0" "50" "7" "144094621" "144094621" "subst" "0" "00006" "NOBOX_000030" "g.144094621C>G" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144397528C>G" "" "VUS" "" "0001074596" "0" "50" "7" "144094614" "144094614" "subst" "0" "00006" "NOBOX_000029" "g.144094614G>A" "3/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144397521G>A" "" "VUS" "" "0001074597" "0" "30" "7" "144094583" "144094583" "subst" "0.000886815" "00006" "NOBOX_000028" "g.144094583G>A" "3/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144397490G>A" "" "likely benign" "" "0001074598" "0" "30" "7" "144094560" "144094560" "subst" "0.000542283" "00006" "NOBOX_000027" "g.144094560G>A" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144397467G>A" "" "likely benign" "" "0001074599" "0" "50" "7" "144094550" "144094550" "subst" "1.48392E-5" "00006" "NOBOX_000025" "g.144094550C>G" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144397457C>G" "" "VUS" "" "0001074600" "1" "50" "7" "144101728" "144101728" "subst" "0.00145803" "00006" "NOBOX_000073" "g.144101728C>A" "14/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "overrepresented in POI cohort, no significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144404635C>A" "" "VUS" "" "0001074601" "1" "50" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "32/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "overrepresented in POI cohort, significant overrepresentation African POI cohort, significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144401890C>A" "" "VUS" "" "0001074602" "1" "50" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "32/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "overrepresented in POI cohort, significant overrepresentation African POI cohort, significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144401890C>A" "" "VUS" "" "0001074603" "3" "50" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "32/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "overrepresented in POI cohort, significant overrepresentation African POI cohort, significant overrepresentation European POI cohort" "Germline" "" "" "0" "" "" "g.144401890C>A" "" "VUS" "" "0001074604" "3" "30" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "36/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "no significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144401541G>A" "" "likely benign" "" "0001074605" "0" "50" "7" "144096940" "144096940" "subst" "4.08203E-6" "00006" "NOBOX_000049" "g.144096940C>G" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144399847C>G" "" "VUS" "" "0001074606" "0" "30" "7" "144095414" "144095414" "subst" "4.35717E-5" "00006" "NOBOX_000031" "g.144095414A>T" "1/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144398321A>T" "" "likely benign" "" "0001074607" "0" "30" "7" "144094553" "144094553" "subst" "0.00111311" "00006" "NOBOX_000026" "g.144094553G>A" "3/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "" "Germline" "" "" "0" "" "" "g.144397460G>A" "" "likely benign" "" "0001074608" "0" "30" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "36/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "no significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144401541G>A" "" "likely benign" "" "0001074609" "0" "50" "7" "144098496" "144098496" "subst" "8.27328E-5" "00006" "NOBOX_000059" "g.144098496G>A" "2/810 cases POF" "{PMID:Jordan 2024:37921973}" "" "" "significant overrepresentation African POI cohort" "Germline" "" "" "0" "" "" "g.144401403G>A" "" "VUS" "" "0001074625" "1" "50" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs7800847" "0" "" "" "g.144401541G>A" "" "VUS" "" "0001074628" "1" "30" "7" "144101728" "144101728" "subst" "0.00145803" "00006" "NOBOX_000073" "g.144101728C>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs115206969" "0" "" "" "g.144404635C>A" "" "likely benign" "" "0001074629" "1" "50" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs7800847" "0" "" "" "g.144401541G>A" "" "VUS" "" "0001074630" "1" "30" "7" "144101728" "144101728" "subst" "0.00145803" "00006" "NOBOX_000073" "g.144101728C>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs115206969" "0" "" "" "g.144404635C>A" "" "likely benign" "" "0001074632" "1" "30" "7" "144101728" "144101728" "subst" "0.00145803" "00006" "NOBOX_000073" "g.144101728C>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs115206969" "0" "" "" "g.144404635C>A" "" "likely benign" "" "0001074634" "3" "50" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "VUS" "" "0001074635" "0" "50" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs7800847" "0" "" "" "g.144401541G>A" "" "VUS" "" "0001074636" "0" "50" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs7800847" "0" "" "" "g.144401541G>A" "" "VUS" "" "0001074637" "0" "50" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs7800847" "0" "" "" "g.144401541G>A" "" "VUS" "" "0001074638" "0" "50" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs7800847" "0" "" "" "g.144401541G>A" "" "VUS" "" "0001074639" "0" "50" "7" "144098529" "144098529" "subst" "0.00333637" "00006" "NOBOX_000062" "g.144098529C>T" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs201806397" "0" "" "" "g.144401436C>T" "" "VUS" "" "0001074640" "0" "50" "7" "144098529" "144098529" "subst" "0.00333637" "00006" "NOBOX_000062" "g.144098529C>T" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs201806397" "0" "" "" "g.144401436C>T" "" "VUS" "" "0001074641" "0" "50" "7" "144098529" "144098529" "subst" "0.00333637" "00006" "NOBOX_000062" "g.144098529C>T" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs201806397" "0" "" "" "g.144401436C>T" "" "VUS" "" "0001074642" "0" "30" "7" "144096158" "144096158" "subst" "0.0110216" "00006" "NOBOX_000040" "g.144096158C>T" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs112190116" "0" "" "" "g.144399065C>T" "" "likely benign" "" "0001074643" "0" "30" "7" "144096158" "144096158" "subst" "0.0110216" "00006" "NOBOX_000040" "g.144096158C>T" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs112190116" "0" "" "" "g.144399065C>T" "" "likely benign" "" "0001074644" "0" "30" "7" "144096158" "144096158" "subst" "0.0110216" "00006" "NOBOX_000040" "g.144096158C>T" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs112190116" "0" "" "" "g.144399065C>T" "" "likely benign" "" "0001074645" "0" "30" "7" "144096158" "144096158" "subst" "0.0110216" "00006" "NOBOX_000040" "g.144096158C>T" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs112190116" "0" "" "" "g.144399065C>T" "" "likely benign" "" "0001074646" "0" "50" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "VUS" "" "0001074647" "0" "50" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "VUS" "" "0001074648" "0" "50" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "VUS" "" "0001074649" "0" "50" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "VUS" "" "0001074650" "0" "50" "7" "144098983" "144098983" "subst" "0.00209215" "00006" "NOBOX_000069" "g.144098983C>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs77587352" "0" "" "" "g.144401890C>A" "" "VUS" "" "0001074651" "0" "50" "7" "144096940" "144096940" "subst" "4.08203E-6" "00006" "NOBOX_000049" "g.144096940C>G" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs201947677" "0" "" "" "g.144399847C>G" "" "VUS" "" "0001074690" "0" "50" "7" "144098634" "144098634" "subst" "0.0068692" "00006" "NOBOX_000064" "g.144098634G>A" "" "{PMID:Eskenazi 2021:34095689}" "" "" "" "Germline" "" "rs7800847" "0" "" "" "g.144401541G>A" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NOBOX ## Count = 146 "{{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}}" "0000164358" "00014662" "90" "822" "0" "822" "0" "c.822del" "r.(?)" "p.(Thr275Hisfs*13)" "4" "0000164567" "00014662" "90" "822" "0" "822" "0" "c.822del" "r.(?)" "p.Thr275Hisfs*13" "4" "0000248767" "00014662" "10" "1549" "0" "1549" "0" "c.1549T>C" "r.(?)" "p.(Phe517Leu)" "" "0000249109" "00014662" "10" "1154" "11" "1154" "11" "c.1154+11T>C" "r.(=)" "p.(=)" "" "0000296512" "00014662" "10" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Leu88=)" "" "0000304226" "00014662" "50" "280" "0" "292" "1" "c.280_292+1del" "r.spl?" "p.?" "" "0000341373" "00014662" "90" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Ala321ProfsTer27)" "" "0000531108" "00014662" "30" "1650" "0" "1650" "0" "c.1650G>A" "r.(?)" "p.(Thr550=)" "" "0000531109" "00014662" "30" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "" "0000652205" "00014662" "90" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355His)" "" "0000678013" "00014662" "50" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Gly23Ser)" "" "0000708291" "00014662" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276*)" "4" "0000708292" "00014662" "90" "1421" "0" "1421" "0" "c.1421del" "r.(?)" "p.(Gly474Alafs*76)" "8" "0000839554" "00014662" "50" "259" "0" "259" "0" "c.259C>A" "r.(259c>a)" "p.(Pro87Thr)" "" "0000851504" "00014662" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "" "0000977560" "00014662" "70" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Gln27*)" "" "0000996264" "00014662" "50" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315His)" "" "0000996265" "00014662" "50" "222" "0" "222" "0" "c.222T>A" "r.(?)" "p.(Asp74Glu)" "" "0001014317" "00014662" "50" "1469" "5" "1469" "5" "c.1469+5G>A" "r.spl?" "p.?" "" "0001036179" "00014662" "30" "1991" "0" "1991" "0" "c.1991A>G" "r.(?)" "p.(Lys664Arg)" "" "0001060955" "00014662" "90" "1421" "0" "1421" "0" "c.1421del" "r.(?)" "p.(Gly474Alafs*76)" "" "0001060956" "00014662" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276*)" "" "0001074509" "00014662" "70" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074510" "00014662" "70" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074511" "00014662" "70" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "4" "0001074512" "00014662" "70" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "4" "0001074513" "00014662" "70" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "4" "0001074514" "00014662" "70" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "4" "0001074515" "00014662" "70" "907" "0" "907" "0" "c.907C>T" "r.(?)" "p.(Arg303Ter)" "5" "0001074516" "00014662" "70" "1025" "0" "1025" "0" "c.1025G>C" "r.(?)" "p.(Ser342Thr)" "5" "0001074517" "00014662" "70" "1025" "0" "1025" "0" "c.1025G>C" "r.(?)" "p.(Ser342Thr)" "5" "0001074518" "00014662" "70" "1025" "0" "1025" "0" "c.1025G>C" "r.(?)" "p.(Ser342Thr)" "5" "0001074519" "00014662" "70" "1025" "0" "1025" "0" "c.1025G>C" "r.(?)" "p.(Ser342Thr)" "5" "0001074520" "00014662" "70" "1048" "0" "1048" "0" "c.1048G>T" "r.(?)" "p.(Val350Leu)" "6" "0001074521" "00014662" "10" "42" "0" "42" "0" "c.42T>C" "r.(?)" "p.(Gly14=)" "1" "0001074522" "00014662" "30" "66" "0" "66" "0" "c.66T>C" "r.(?)" "p.(Asp22=)" "1" "0001074523" "00014662" "10" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Leu88=)" "3" "0001074524" "00014662" "10" "292" "39" "292" "39" "c.292+39C>T" "r.(?)" "p.(=)" "3i" "0001074525" "00014662" "10" "292" "65" "292" "65" "c.292+65A>G" "r.(?)" "p.(=)" "3i" "0001074526" "00014662" "30" "293" "-71" "293" "-71" "c.293-71G>A" "r.(?)" "p.(=)" "3i" "0001074527" "00014662" "30" "293" "-23" "293" "-23" "c.293-23C>T" "r.(?)" "p.(=)" "3i" "0001074528" "00014662" "30" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Pro160=)" "4" "0001074529" "00014662" "30" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Ala321=)" "5" "0001074530" "00014662" "10" "1154" "11" "1154" "11" "c.1154+11T>C" "r.(?)" "p.(=)" "6i" "0001074531" "00014662" "10" "1240" "34" "1240" "34" "c.1240+34G>A" "r.(?)" "p.(=)" "7i" "0001074532" "00014662" "10" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(Arg436=)" "8" "0001074533" "00014662" "10" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(Arg450=)" "8" "0001074534" "00014662" "10" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Gly482Ser)" "8" "0001074535" "00014662" "10" "42" "0" "42" "0" "c.42T>C" "r.(?)" "p.(Gly14=)" "1" "0001074536" "00014662" "30" "66" "0" "66" "0" "c.66T>C" "r.(?)" "p.(Asp22=)" "1" "0001074537" "00014662" "10" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Leu88=)" "3" "0001074538" "00014662" "70" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355His)" "6" "0001074539" "00014662" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "6" "0001074540" "00014662" "10" "1154" "11" "1154" "11" "c.1154+11T>C" "r.(?)" "p.(=)" "6i" "0001074541" "00014662" "10" "1155" "-22" "1155" "-22" "c.1155-22G>A" "r.(?)" "p.(=)" "6i" "0001074542" "00014662" "30" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Asp452Asn)" "8" "0001074543" "00014662" "10" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Gly482Ser)" "8" "0001074544" "00014662" "10" "1470" "-51" "1470" "-51" "c.1470-51G>T" "r.(?)" "p.(=)" "8i" "0001074545" "00014662" "10" "1549" "0" "1549" "0" "c.1549T>C" "r.(?)" "p.(Phe517Leu)" "9" "0001074546" "00014662" "90" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074547" "00014662" "90" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074548" "00014662" "90" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074549" "00014662" "90" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074550" "00014662" "90" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074551" "00014662" "90" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074552" "00014662" "90" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074553" "00014662" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "3" "0001074554" "00014662" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "4" "0001074555" "00014662" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "4" "0001074556" "00014662" "90" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Lys371Thr)" "6" "0001074557" "00014662" "50" "1856" "0" "1856" "0" "c.1856C>T" "r.(?)" "p.(Pro619Leu)" "10" "0001074558" "00014662" "30" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Arg44Leu)" "10" "0001074559" "00014662" "50" "1856" "0" "1856" "0" "c.1856C>T" "r.(?)" "p.(Pro619Leu)" "2" "0001074560" "00014662" "90" "1489" "0" "1489" "0" "c.1489del" "r.(?)" "p.(Cys497ValfsTer53)" "9" "0001074561" "00014662" "70" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360Ter)" "" "0001074562" "00014662" "90" "569" "0" "569" "0" "c.569del" "r.(?)" "p.(Gly190GlufsTer3)" "" "0001074563" "00014662" "30" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Gly23Asp)" "" "0001074564" "00014662" "30" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117Gln)" "" "0001074566" "00014662" "50" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "2" "0001074567" "00014662" "50" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Arg44Leu)" "2" "0001074568" "00014662" "30" "138" "0" "138" "0" "c.138C>A" "r.(?)" "p.(Tyr46Ter)" "2" "0001074569" "00014662" "30" "166" "0" "168" "0" "c.166_168del" "r.(?)" "p.(Phe56del)" "2" "0001074570" "00014662" "30" "265" "0" "265" "0" "c.265G>T" "r.(?)" "p.(Val89Leu)" "3" "0001074571" "00014662" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074572" "00014662" "30" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "4" "0001074573" "00014662" "30" "362" "0" "362" "0" "c.362C>T" "r.(?)" "p.(Pro121Leu)" "4" "0001074574" "00014662" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Gly152Arg)" "4" "0001074575" "00014662" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "4" "0001074576" "00014662" "50" "487" "0" "487" "0" "c.487C>G" "r.(?)" "p.(Arg163Gly)" "4" "0001074577" "00014662" "50" "547" "0" "547" "0" "c.547G>T" "r.(?)" "p.(Glu183Ter)" "4" "0001074578" "00014662" "50" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Asn210Asp)" "4" "0001074579" "00014662" "50" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344His)" "5" "0001074580" "00014662" "50" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Ala346Val)" "5" "0001074581" "00014662" "50" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355Cys)" "6" "0001074582" "00014662" "30" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "6" "0001074583" "00014662" "50" "1075" "0" "1075" "0" "c.1075T>C" "r.(?)" "p.(Trp359Arg)" "6" "0001074584" "00014662" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "6" "0001074585" "00014662" "50" "1240" "2" "1240" "2" "c.1240+2T>G" "r.spl" "p.?" "7i" "0001074586" "00014662" "50" "1330" "0" "1330" "0" "c.1330A>T" "r.(?)" "p.(Ser444Cys)" "8" "0001074587" "00014662" "50" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Asp452Asn)" "8" "0001074588" "00014662" "50" "1466" "0" "1466" "0" "c.1466C>T" "r.(?)" "p.(Thr489Ile)" "8" "0001074589" "00014662" "50" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Pro495Leu)" "9" "0001074590" "00014662" "30" "1649" "0" "1649" "0" "c.1649C>T" "r.(?)" "p.(Thr550Met)" "9" "0001074591" "00014662" "50" "1674" "0" "1675" "0" "c.1674_1675del" "r.(?)" "p.(Phe559TyrfsTer39)" "9" "0001074592" "00014662" "50" "1678" "0" "1678" "0" "c.1678del" "r.(?)" "p.(Met560CysfsTer24)" "9" "0001074593" "00014662" "30" "1709" "0" "1709" "0" "c.1709C>T" "r.(?)" "p.(Ser570Leu)" "9" "0001074594" "00014662" "50" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Asp452Asn)" "8" "0001074595" "00014662" "50" "1788" "0" "1788" "0" "c.1788G>C" "r.(?)" "p.(Trp596Cys)" "10" "0001074596" "00014662" "50" "1795" "0" "1795" "0" "c.1795C>T" "r.(?)" "p.(Pro599Ser)" "10" "0001074597" "00014662" "30" "1826" "0" "1826" "0" "c.1826C>T" "r.(?)" "p.(Pro609Leu)" "10" "0001074598" "00014662" "30" "1849" "0" "1849" "0" "c.1849C>T" "r.(?)" "p.(His617Tyr)" "10" "0001074599" "00014662" "50" "1859" "0" "1859" "0" "c.1859G>C" "r.(?)" "p.(Gly620Ala)" "10" "0001074600" "00014662" "50" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Arg44Leu)" "2" "0001074601" "00014662" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074602" "00014662" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074603" "00014662" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "3" "0001074604" "00014662" "30" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "4" "0001074605" "00014662" "50" "1064" "0" "1064" "0" "c.1064G>C" "r.(?)" "p.(Arg355Pro)" "6" "0001074606" "00014662" "30" "1735" "0" "1735" "0" "c.1735T>A" "r.(?)" "p.(Ser579Thr)" "9" "0001074607" "00014662" "30" "1856" "0" "1856" "0" "c.1856C>T" "r.(?)" "p.(Pro619Leu)" "10" "0001074608" "00014662" "30" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "4" "0001074609" "00014662" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "4" "0001074625" "00014662" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "" "0001074628" "00014662" "30" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Arg44Leu)" "" "0001074629" "00014662" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "" "0001074630" "00014662" "30" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Arg44Leu)" "" "0001074632" "00014662" "30" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Arg44Leu)" "" "0001074634" "00014662" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "" "0001074635" "00014662" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "" "0001074636" "00014662" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "" "0001074637" "00014662" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "" "0001074638" "00014662" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "" "0001074639" "00014662" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Gly152Arg)" "" "0001074640" "00014662" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Gly152Arg)" "" "0001074641" "00014662" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Gly152Arg)" "" "0001074642" "00014662" "30" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Asp452Asn)" "" "0001074643" "00014662" "30" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Asp452Asn)" "" "0001074644" "00014662" "30" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Asp452Asn)" "" "0001074645" "00014662" "30" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Asp452Asn)" "" "0001074646" "00014662" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "" "0001074647" "00014662" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "" "0001074648" "00014662" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "" "0001074649" "00014662" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "" "0001074650" "00014662" "50" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Gly91Trp)" "" "0001074651" "00014662" "50" "1064" "0" "1064" "0" "c.1064G>C" "r.(?)" "p.(Arg355Pro)" "" "0001074690" "00014662" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 131 "{{screeningid}}" "{{variantid}}" "0000101685" "0000164358" "0000295516" "0000652205" "0000325318" "0000708291" "0000325318" "0001060955" "0000325319" "0000708292" "0000325319" "0001060956" "0000403978" "0000839554" "0000478689" "0001074509" "0000478690" "0001074510" "0000478691" "0001074511" "0000478692" "0001074512" "0000478693" "0001074513" "0000478694" "0001074514" "0000478695" "0001074515" "0000478696" "0001074516" "0000478697" "0001074517" "0000478698" "0001074518" "0000478699" "0001074519" "0000478700" "0001074520" "0000478701" "0001074521" "0000478702" "0001074522" "0000478703" "0001074523" "0000478704" "0001074524" "0000478705" "0001074525" "0000478706" "0001074526" "0000478707" "0001074527" "0000478708" "0001074528" "0000478709" "0001074529" "0000478710" "0001074530" "0000478711" "0001074531" "0000478712" "0001074532" "0000478713" "0001074533" "0000478714" "0001074534" "0000478715" "0001074535" "0000478716" "0001074536" "0000478717" "0001074537" "0000478718" "0001074538" "0000478719" "0001074539" "0000478720" "0001074540" "0000478721" "0001074541" "0000478722" "0001074542" "0000478723" "0001074543" "0000478724" "0001074544" "0000478725" "0001074545" "0000478726" "0001074546" "0000478727" "0001074547" "0000478728" "0001074548" "0000478729" "0001074549" "0000478729" "0001074559" "0000478730" "0001074550" "0000478731" "0001074551" "0000478732" "0001074552" "0000478733" "0001074553" "0000478734" "0001074554" "0000478735" "0001074555" "0000478736" "0001074556" "0000478737" "0001074557" "0000478738" "0001074558" "0000478739" "0001074560" "0000478740" "0001074561" "0000478741" "0001074562" "0000478742" "0001074563" "0000478743" "0001074564" "0000478744" "0001074566" "0000478745" "0001074567" "0000478746" "0001074568" "0000478747" "0001074569" "0000478748" "0001074570" "0000478749" "0001074571" "0000478750" "0001074572" "0000478751" "0001074573" "0000478752" "0001074574" "0000478753" "0001074575" "0000478754" "0001074576" "0000478755" "0001074577" "0000478756" "0001074578" "0000478757" "0001074579" "0000478758" "0001074580" "0000478759" "0001074581" "0000478760" "0001074582" "0000478760" "0001074605" "0000478761" "0001074583" "0000478762" "0001074584" "0000478763" "0001074585" "0000478764" "0001074586" "0000478765" "0001074587" "0000478766" "0001074588" "0000478767" "0001074589" "0000478768" "0001074590" "0000478769" "0001074591" "0000478770" "0001074592" "0000478771" "0001074593" "0000478772" "0001074594" "0000478772" "0001074606" "0000478773" "0001074595" "0000478774" "0001074596" "0000478775" "0001074597" "0000478776" "0001074598" "0000478777" "0001074599" "0000478778" "0001074600" "0000478778" "0001074607" "0000478779" "0001074601" "0000478779" "0001074608" "0000478780" "0001074602" "0000478780" "0001074609" "0000478781" "0001074603" "0000478782" "0001074604" "0000478792" "0001074690" "0000478794" "0001074625" "0000478797" "0001074628" "0000478798" "0001074629" "0000478799" "0001074630" "0000478801" "0001074632" "0000478803" "0001074634" "0000478804" "0001074635" "0000478805" "0001074636" "0000478806" "0001074637" "0000478807" "0001074638" "0000478808" "0001074639" "0000478809" "0001074640" "0000478810" "0001074641" "0000478811" "0001074642" "0000478812" "0001074643" "0000478813" "0001074644" "0000478814" "0001074645" "0000478815" "0001074646" "0000478816" "0001074647" "0000478817" "0001074648" "0000478818" "0001074649" "0000478819" "0001074650" "0000478820" "0001074651"