### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HADHA) # 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}}" "HADHA" "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit" "2" "p23" "unknown" "NG_007121.1" "UD_132118507809" "" "https://www.LOVD.nl/HADHA" "" "1" "4801" "3030" "600890" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/HADHA_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2018-10-12 10:37:00" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000183" "HADHA" "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit" "001" "NM_000182.4" "" "NP_000173.2" "" "" "" "-130" "2907" "2292" "26467594" "26413504" "00002" "2012-05-11 13:12:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00114" "GA1" "glutaricaciduria, type 1 (GA-1)" "AR" "231670" "" "autosomal recessive" "" "00008" "2013-03-06 12:48:45" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "02811" "MTPD" "mitochondrial trifunctional protein deficiency" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-12 15:39:12" "02812" "LCHADD" "LCHAD deficiency" "AR" "609016" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-12 15:41:19" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "07124" "MTPD1" "mitochondrial trifunctional protein deficiency, type 1" "AR" "609015" "" "" "" "00006" "2024-11-12 15:39:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "HADHA" "02811" "HADHA" "02812" "HADHA" "07124" ## Individuals ## Do not remove or alter this header ## ## Count = 201 "{{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}}" "00000013" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000033" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000044" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00000100" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00019870" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00181030" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00292674" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292675" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00333998" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "494" "00362264" "" "" "" "1" "" "01741" "" "" "M" "" "Germany" "" "" "" "" "" "" "00395566" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-0420" "00400216" "" "" "" "2" "" "04188" "{PMID:Khani 2020:32897397}" "2-generation family, 2 affected (sister/brother), 3 unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" ">29y" "0" "" "" "" "FamCMT2-101PatII1" "00400217" "" "" "00400216" "1" "" "04188" "{PMID:Khani 2020:32897397}" "brother" "M" "yes" "Iran" ">24y" "0" "" "" "" "FamCMT2-101PatII3" "00446811" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat98" "00447209" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MISC-305" "00452097" "" "" "" "2" "" "00006" "{PMID:Randon 2020:32706845}" "analysis 1000 healthy individuals" "F" "" "Brazil" "" "0" "" "" "" "control" "00453620" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat36" "00457467" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Netherlands" "" "0" "" "" "" "Pat1" "00457468" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat2" "00457469" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat3" "00457470" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat4" "00457471" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat5" "00457472" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat6" "00457473" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat7" "00457474" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat8" "00457475" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat9" "00457476" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat10" "00457477" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat11" "00457478" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat12" "00457479" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat13" "00457480" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat14" "00457481" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat15" "00457482" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat16" "00457483" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat17" "00457484" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat18" "00457485" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat19" "00457486" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat20" "00457487" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat21" "00457488" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat22" "00457489" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat23" "00457490" "" "" "" "1" "" "00006" "{PMID:IJlst 1994:7811722}" "" "" "" "" "" "0" "" "" "" "Pat24" "00457491" "" "" "" "1" "" "00006" "{PMID:Ibdah 1998:9739053}, {PMID:Spiekerkoetter 2004:14694500}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "PatA;Pat10" "00457492" "" "" "" "1" "" "00006" "{PMID:Ibdah 1998:9739053}, {PMID:Spiekerkoetter 2004:14694500}" "" "" "" "United States" "" "0" "" "" "" "PatB;Pat9" "00457493" "" "" "" "1" "" "00006" "{PMID:IJlst 1997:9266371}" "" "" "" "" "" "0" "" "" "" "Pat1" "00457494" "" "" "" "1" "" "00006" "{PMID:IJlst 1997:9266371}" "" "" "" "" "" "0" "" "" "" "Pat2" "00457495" "" "" "" "1" "" "00006" "{PMID:Brackett 1995:7738175}, {PMID:Ushikubo 1996:8651282}" "" "" "" "United States" "" "0" "" "" "" "patient;Pat2" "00457496" "" "" "" "1" "" "00006" "{PMID:Liewluck 2013:23868323}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00457497" "" "" "" "1" "" "00006" "{PMID:Isaacs 1996:8865274}, {PMID:Spiekerkoetter 2004:14694500}, {PMID:Gillingham 2005:16040264}" "2-generation family, 1 affected, unaffected heterozygous carrier father, carrier mother acute fatty liver of pregnancy" "M" "" "United States" "" "0" "" "" "" "patient;Pat11;Pat14" "00457498" "" "" "" "2" "" "00006" "{PMID:Yang 2022:34878152}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "" "China" "03y" "0" "" "" "" "FamPatII2" "00457499" "" "" "00457498" "1" "" "00006" "{PMID:Yang 2022:34878152}" "brother" "M" "" "China" "00y07m" "0" "" "" "" "FamPatII3" "00457500" "" "" "" "1" "" "00006" "{PMID:Sims 1995:7846063}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (mother acute fatty liver of pregnancy)" "" "" "United States" "" "0" "" "" "" "FamAPatII1" "00457501" "" "" "" "1" "" "00006" "{PMID:Sims 1995:7846063}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (mother acute fatty liver of pregnancy)" "" "" "United States" "" "0" "" "" "" "FamCPatII1" "00457502" "" "" "" "1" "" "00006" "{PMID:Sims 1995:7846063}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (mother acute fatty liver of pregnancy)" "" "" "United States" "" "0" "" "" "" "FamBPatII1" "00457503" "" "" "" "1" "" "00006" "{PMID:Zhang 2023:37549033}, {PMID:Chen 2024:38379183}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00457505" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat1" "00457506" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat2" "00457507" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat3" "00457508" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat4" "00457509" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat5" "00457510" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat6" "00457511" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat7" "00457512" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat8" "00457513" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat9" "00457514" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat10" "00457515" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat11" "00457516" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat12" "00457517" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat13" "00457518" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat14" "00457519" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat15" "00457520" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat16" "00457521" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat17" "00457522" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat18" "00457523" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat19" "00457524" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat20" "00457525" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat21" "00457526" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat22" "00457527" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat23" "00457528" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat24" "00457529" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat25" "00457530" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat26" "00457531" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat27" "00457532" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat28" "00457533" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat29" "00457534" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat30" "00457535" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat31" "00457536" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat32" "00457537" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat33" "00457538" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat34" "00457539" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat35" "00457540" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat36" "00457541" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat37" "00457542" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat38" "00457543" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat39" "00457544" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat40" "00457545" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat41" "00457546" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat42" "00457547" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat43" "00457548" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat44" "00457549" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat45" "00457550" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat46" "00457554" "" "" "" "1" "" "00006" "{PMID:Boutron 2011:21549624}" "" "" "" "France" "" "0" "" "" "" "Pat50" "00457570" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat13" "00457576" "" "" "" "1" "" "00006" "{PMID:Kang 2018:29519241}" "" "" "" "Korea" "" "0" "" "" "" "Pat5" "00457594" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2008:18485779}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Jordan" "00y00m03d" "0" "" "" "" "patient" "00457595" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2004:14630990}" "" "" "" "" "" "0" "" "" "" "Pat1" "00457596" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2004:14630990}" "" "" "" "" "" "0" "" "" "" "Pat9" "00457597" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2004:14630990}" "" "" "" "" "" "0" "" "" "" "patient" "00457598" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2004:14630990}" "" "" "" "" "" "0" "" "" "" "patient" "00457599" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2004:14630990}" "" "" "" "" "" "0" "" "" "" "patient" "00457600" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2004:14630990}" "" "" "" "" "" "0" "" "" "" "patient" "00457601" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2002:12442268}" "mother pregnancy HELLP syndrome" "" "" "United States" "" "0" "" "" "Bengali" "PatB" "00457602" "" "" "" "1" "" "00006" "{PMID:Spiekerkoetter 2002:12442268}" "" "M" "no" "United States" "" "0" "" "" "Hispanic" "PatA" "00457603" "" "" "" "1" "" "00006" "{PMID:Sperk 2010:20659813}" "" "M" "" "Germany" "" "0" "" "" "" "Pat1" "00457604" "" "" "" "1" "" "00006" "{PMID:Sperk 2010:20659813}" "" "M" "" "Germany" "" "0" "" "" "" "Pat2" "00457605" "" "" "" "1" "" "00006" "{PMID:Sperk 2010:20659813}" "" "M" "" "Germany" "" "0" "" "" "" "Pat3" "00457606" "" "" "" "1" "" "00006" "{PMID:Sperk 2010:20659813}" "" "F" "" "Germany" "" "0" "" "" "" "Pat4" "00457609" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat1" "00457610" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat2" "00457611" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat3" "00457612" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat4" "00457613" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat5" "00457614" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat6" "00457615" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat7" "00457616" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat8" "00457617" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat9" "00457618" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat10" "00457619" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat11" "00457620" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat12" "00457621" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat13" "00457622" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat14" "00457623" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat15" "00457624" "" "" "" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat16" "00457625" "" "" "" "3" "" "00006" "{PMID:Grunert 2021:33638202}" "family, 3 affected sibs" "F" "" "Germany" "" "0" "" "" "" "FamPat17" "00457626" "" "" "00457625" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "sib" "F" "" "Germany" "" "0" "" "" "" "FamPat18" "00457627" "" "" "00457625" "1" "" "00006" "{PMID:Grunert 2021:33638202}" "sib" "F" "" "Germany" "" "0" "" "" "" "FamPat19" "00457628" "" "" "" "2" "" "00006" "{PMID:Choi 2007:17143551}" "family, premature female monozygotic twin pair" "F" "" "Korea" "1d" "0" "" "" "" "FamPat1" "00457629" "" "" "00457628" "1" "" "00006" "{PMID:Choi 2007:17143551}" "twin" "F" "" "Korea" "26d" "0" "" "" "" "FamPat2" "00457632" "" "" "" "1" "" "00006" "{PMID:Scheuerman 2009:19433283}" "" "F" "" "Israel" "01y04m" "0" "" "" "" "patient" "00457652" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat16" "00457653" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat17" "00457654" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat18" "00457655" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat19" "00457656" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat20" "00457675" "" "" "" "1" "" "00006" "{PMID:De Biase 2017:27117294}" "" "M" "" "United States" "" "0" "" "" "" "Pat1" "00457676" "" "" "" "1" "" "00006" "{PMID:De Biase 2017:27117294}" "" "F" "" "United States" "" "0" "" "" "" "Pat2" "00457677" "" "" "" "1" "" "00006" "{PMID:De Biase 2017:27117294}" "" "M" "" "United States" "" "0" "" "" "" "Pat3" "00457678" "" "" "" "1" "" "00006" "{PMID:De Biase 2017:27117294}" "" "F" "" "United States" "" "0" "" "" "" "Pat4" "00457679" "" "" "" "1" "" "00006" "{PMID:De Biase 2017:27117294}" "" "M" "" "United States" "" "0" "" "" "" "Pat5" "00457682" "" "" "" "2" "" "00006" "{PMID:Bursle 2018:29124685}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Australia" "" "0" "" "" "" "patient" "00457684" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat1" "00457685" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat2" "00457686" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat3" "00457687" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat4" "00457688" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat5" "00457689" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat6" "00457690" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat7" "00457691" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat8" "00457692" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}, {PMID:Gillingham 2005:16040264}" "" "F" "" "United States" "" "0" "" "" "" "Pat9;Pat(4/8)" "00457693" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}, {PMID:Gillingham 2005:16040264}" "" "F" "" "United States" "" "0" "" "" "" "Pat10;Pat(4/8)" "00457694" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat11" "00457695" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat12" "00457696" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat13" "00457697" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}, {PMID:Gillingham 2005:16040264}" "" "" "" "United States" "" "0" "" "" "" "Pat14:Pat13" "00457698" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat15" "00457699" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}, {PMID:Gillingham 2005:16040264}" "" "F" "" "United States" "" "0" "" "" "" "Pat16;Pat12" "00457700" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat17" "00457701" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat18" "00457702" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat19" "00457703" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat20" "00457704" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat21" "00457705" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat22" "00457706" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat23" "00457707" "" "" "" "1" "" "00006" "{PMID:Ibdah 1999:10352164}" "" "" "" "United States" "" "0" "" "" "" "Pat24" "00457708" "" "" "" "1" "" "00006" "{PMID:Hintz 2002:11855930}, {PMID:Gillingham 2005:16040264}" "" "F" "" "United States" "" "0" "" "" "" "Pat1;Pat5" "00457709" "" "" "" "1" "" "00006" "{PMID:Hintz 2002:11855930}" "" "M" "" "United States" "" "0" "" "" "" "Pat2" "00457710" "" "" "" "1" "" "00006" "{PMID:Gillingham 2005:16040264}" "" "M" "" "United States" "" "0" "" "" "" "Pat2" "00457711" "" "" "" "2" "" "00006" "{PMID:Gillingham 2005:16040264}" "family, 2 affected sibs" "F" "" "United States" "" "0" "" "" "" "Pat9" "00457712" "" "" "00457711" "1" "" "00006" "{PMID:Gillingham 2005:16040264}" "sib" "M" "" "United States" "" "0" "" "" "" "Pat10" "00457713" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat1" "00457714" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat2" "00457716" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat4" "00457717" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat5" "00457718" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat6" "00457719" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat7" "00457720" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat8" "00457721" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat9" "00457722" "" "" "" "1" "" "00006" "{PMID:Diebold 2019:30682426}" "phenotype-based NGS screening 403 individuals" "" "" "Germany" "" "0" "" "" "" "Pat10" "00457725" "" "" "" "1" "" "00006" "{PMID:Knowles 2019:28301411}" "" "M" "" "Canada" "" "0" "" "" "" "patient" "00457726" "" "" "" "1" "" "00006" "{PMID:Bo 2017:28515471}" "" "F" "" "Japan" "6d" "0" "" "" "" "Pat1" "00457727" "" "" "" "1" "" "00006" "{PMID:Bo 2017:28515471}" "" "F" "" "Japan" "44d" "0" "" "" "" "Pat2" "00457728" "" "" "" "1" "" "00006" "{PMID:Bo 2017:28515471}" "" "M" "" "Japan" "13d" "0" "" "" "" "Pat3" "00457733" "" "" "" "1" "" "00006" "{PMID:Vieira Neto 2024:39088276}" "" "F" "" "United States" "" "0" "" "" "" "FB864" "00457734" "" "" "" "1" "" "00006" "{PMID:Vieira Neto 2024:39088276}" "" "M" "" "United States" "" "0" "" "" "" "FB847" "00457735" "" "" "" "1" "" "00006" "{PMID:Vieira Neto 2024:39088276}" "" "M" "" "United States" "" "0" "" "" "" "FB822" "00457736" "" "" "" "1" "" "00006" "{PMID:Vieira Neto 2024:39088276}" "" "F" "" "United States" "19y" "0" "" "" "" "FB944" "00457737" "" "" "" "1" "" "00006" "{PMID:Vieira Neto 2024:39088276}" "" "F" "" "United States" "19y" "0" "" "" "" "FB942" "00457952" "" "" "" "1" "" "00006" "{PMID:Sander 2005:15896654}" "" "" "" "Germany" "" "0" "" "" "" "Pat1" "00457953" "" "" "" "1" "" "00006" "{PMID:Sander 2005:15896654}" "" "" "" "Germany" "" "0" "" "" "" "Pat2" "00457954" "" "" "" "1" "" "00006" "{PMID:Sander 2005:15896654}" "" "" "" "Germany" "" "0" "" "" "" "Pat3" "00457955" "" "" "" "1" "" "00006" "{PMID:Sander 2005:15896654}" "" "" "" "Germany" "" "0" "" "" "" "Pat4" "00457957" "" "" "" "1" "" "00006" "{PMID:Sander 2005:15896654}" "" "" "" "Germany" "" "0" "" "" "" "Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 200 "{{individualid}}" "{{diseaseid}}" "00000013" "00138" "00000013" "05378" "00000044" "00114" "00019870" "00139" "00181030" "02812" "00292674" "00198" "00292675" "00198" "00333998" "04214" "00362264" "02811" "00395566" "04214" "00400216" "00199" "00400217" "00199" "00446811" "04173" "00447209" "00198" "00452097" "00000" "00453620" "02554" "00457467" "02811" "00457468" "02811" "00457469" "02811" "00457470" "02811" "00457471" "02811" "00457472" "02811" "00457473" "02811" "00457474" "02811" "00457475" "02811" "00457476" "02811" "00457477" "02811" "00457478" "02811" "00457479" "02811" "00457480" "02811" "00457481" "02811" "00457482" "02811" "00457483" "02811" "00457484" "02811" "00457485" "02811" "00457486" "02811" "00457487" "02811" "00457488" "02811" "00457489" "02811" "00457490" "02811" "00457491" "02811" "00457492" "02811" "00457493" "02811" "00457494" "02811" "00457495" "02811" "00457496" "02811" "00457497" "02811" "00457498" "02811" "00457499" "02811" "00457500" "02811" "00457501" "02811" "00457502" "02811" "00457503" "02811" "00457505" "02811" "00457506" "02811" "00457507" "02811" "00457508" "02811" "00457509" "02811" "00457510" "02811" "00457511" "02811" "00457512" "02811" "00457513" "02811" "00457514" "02811" "00457515" "02811" "00457516" "02811" "00457517" "02811" "00457518" "02811" "00457519" "02811" "00457520" "02811" "00457521" "02811" "00457522" "02811" "00457523" "02811" "00457524" "02811" "00457525" "02811" "00457526" "02811" "00457527" "02811" "00457528" "02811" "00457529" "02811" "00457530" "02811" "00457531" "02811" "00457532" "02811" "00457533" "02811" "00457534" "02811" "00457535" "02811" "00457536" "02811" "00457537" "02811" "00457538" "02811" "00457539" "02811" "00457540" "02811" "00457541" "02811" "00457542" "02811" "00457543" "02811" "00457544" "02811" "00457545" "02811" "00457546" "02811" "00457547" "02811" "00457548" "02811" "00457549" "02811" "00457550" "02811" "00457554" "02811" "00457570" "00198" "00457576" "00198" "00457594" "02811" "00457595" "02811" "00457596" "02811" "00457597" "02811" "00457598" "02811" "00457599" "02811" "00457600" "02811" "00457601" "00198" "00457602" "02811" "00457603" "00198" "00457604" "00198" "00457605" "00198" "00457606" "00198" "00457609" "00198" "00457610" "00198" "00457611" "00198" "00457612" "00198" "00457613" "00198" "00457614" "00198" "00457615" "00198" "00457616" "00198" "00457617" "00198" "00457618" "00198" "00457619" "00198" "00457620" "00198" "00457621" "00198" "00457622" "00198" "00457623" "00198" "00457624" "00198" "00457625" "00198" "00457626" "00198" "00457627" "00198" "00457628" "02811" "00457629" "02811" "00457632" "02811" "00457652" "00198" "00457653" "00198" "00457654" "00198" "00457655" "00198" "00457656" "00198" "00457675" "02812" "00457676" "02812" "00457677" "02812" "00457678" "02812" "00457679" "02811" "00457682" "04172" "00457684" "02812" "00457685" "02812" "00457686" "02812" "00457687" "02812" "00457688" "02812" "00457689" "02812" "00457690" "02812" "00457691" "02812" "00457692" "02812" "00457693" "02812" "00457694" "02812" "00457695" "02812" "00457696" "02812" "00457697" "02812" "00457698" "02812" "00457699" "02812" "00457700" "02812" "00457701" "02812" "00457702" "02812" "00457703" "02812" "00457704" "02812" "00457705" "02812" "00457706" "02812" "00457707" "02812" "00457708" "02811" "00457709" "02811" "00457710" "02811" "00457711" "02811" "00457712" "02811" "00457713" "00198" "00457714" "00198" "00457716" "00198" "00457717" "00198" "00457718" "00198" "00457719" "00198" "00457720" "00198" "00457721" "00198" "00457722" "00198" "00457725" "05113" "00457726" "02811" "00457727" "02811" "00457728" "02811" "00457733" "02811" "00457734" "02811" "00457735" "02811" "00457736" "02811" "00457737" "02811" "00457952" "00198" "00457953" "00198" "00457954" "00198" "00457955" "00198" "00457957" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00114, 00138, 00139, 00198, 00199, 02554, 02811, 02812, 04172, 04173, 04214, 05113, 05378, 07124 ## Count = 182 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{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}}" "0000017600" "00139" "00019870" "00705" "Unknown" "?" "feeding problems, epilepsy, IQ 50, small dysplastic low-set ears, a bulbous nasal tip a large mouth and a simean crease of his right hand" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143402" "02812" "00181030" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000252183" "04214" "00333998" "00000" "Familial, autosomal recessive" "20y" "clinical category IB" "" "" "" "" "" "" "" "" "" "" "" "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated retinal dystrophy" "" "0000257675" "02811" "00362264" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000288764" "04214" "00395566" "00000" "Familial, autosomal recessive" "" "myopia, photophobia, rod-cone dystrophy, long-chain dicarboxylic aciduria, long chain 3 hydroxyacyl coa dehydrogenase deficiency" "" "" "" "" "" "" "" "" "" "" "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency" "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency" "" "0000293256" "00199" "00400216" "04188" "Familial, autosomal recessive" "28y" "Distal muscle weakness (HP:0002460), Distal lower limb amyotrophy (HP:0008944), Pes cavus (HP:0001761), Hammertoe (HP:0001765), Impaired vibratory sensation (HP:0002495), Reduced tendon reflexes (HP:0001315), No abnormal cranial nerve morphology (-HP:0001291), Difficulty running (HP:0009046), Difficulty walking (HP:0002355), Exercise intolerance (HP:0003546), Gait imbalance (HP:0002141), No abnormality of higher mental function (-HP:0011446), Motor axonal neuropathy (HP:0007002), No decreased nerve conduction velocity (-HP:0000762), EMG: neuropathic changes (HP:0003445), No abnormal brainstem MRI signal intensity (HP:0012747)" "" "" "" "" "Lower limb muscle weakness (HP:0007340)" "" "" "" "" "" "CMT2" "CMT" "" "0000293257" "00199" "00400217" "04188" "Familial, autosomal recessive" "24y" "Distal muscle weakness (HP:0002460), Distal lower limb amyotrophy (HP:0008944), Pes cavus (HP:0001761), Hammertoe (HP:0001765), Impaired vibratory sensation (HP:0002495), Reduced tendon reflexes (HP:0001315), No abnormal cranial nerve morphology (-HP:0001291), Difficulty running (HP:0009046), Difficulty walking (HP:0002355), Exercise intolerance (HP:0003546), Gait imbalance (HP:0002141), No abnormality of higher mental function (-HP:0011446), Motor axonal neuropathy (HP:0007002), Decreased nerve conduction velocity (HP:0000762), EMG: neuropathic changes (HP:0003445), No abnormal brainstem MRI signal intensity (-HP:0012747)" "" "" "" "" "Lower limb muscle weakness (HP:0007340)" "" "" "" "" "" "CMT2" "CMT" "" "0000336015" "04173" "00446811" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336408" "00198" "00447209" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000342277" "02554" "00453620" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "5y" "" "" "" "" "" "" "" "LCHADD" "inborn error of metabolism" "" "0000345931" "02811" "00457467" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345932" "02811" "00457468" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345933" "02811" "00457469" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345934" "02811" "00457470" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345935" "02811" "00457471" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345936" "02811" "00457472" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345937" "02811" "00457473" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345938" "02811" "00457474" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345939" "02811" "00457475" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345940" "02811" "00457476" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345941" "02811" "00457477" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345942" "02811" "00457478" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345943" "02811" "00457479" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345944" "02811" "00457480" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345945" "02811" "00457481" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345946" "02811" "00457482" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345947" "02811" "00457483" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345948" "02811" "00457484" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345949" "02811" "00457485" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345950" "02811" "00457486" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345951" "02811" "00457487" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345952" "02811" "00457488" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345953" "02811" "00457489" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345954" "02811" "00457490" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345955" "02811" "00457491" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345956" "02811" "00457492" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345957" "02811" "00457493" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345958" "02811" "00457494" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345959" "02811" "00457495" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345960" "02811" "00457496" "00006" "Familial, autosomal recessive" "53y" "see paper; ..., recurrent rhabdomyolysis; normal developmental milestones, athletic, worked as railroad conductor; ankle reflexes markedly diminished" "" "" "" "" "recurrent rhabdomyolysis" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345961" "02811" "00457497" "00006" "Familial, autosomal recessive" "" "see paper; ..., 35w-delivered by emergent cesarean section for fetal distress, required brief respiratory support; 4m-viral upper respiratory infection with vomiting, irritability, decreased oral intake, rapidly lethargic, developed coma with hypoglycemia/metabolic acidosis" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345962" "02811" "00457498" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., 3y-deceased (fever half a day; sleepiness, diminished speech, progressive disturbance of consciousness for 1 day; respiratory weakness for 30 min); 39w+2-birth, weight 3,990 g; weakness in both lower limbs, poor swallowing function" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345963" "02811" "00457499" "00006" "Familial, autosomal recessive" "00y07m" "see paper; ..., 7m-deceased (sudden death fever,diarrhea); 38w+3-birth,weight 3,070 g; autopsy upper respiratory tract infection, liver/cardiac cell fat modification" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345964" "02811" "00457500" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345965" "02811" "00457501" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345966" "02811" "00457502" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345967" "02811" "00457503" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, irritability, anorexia, poor reactions" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345969" "02811" "00457505" "00006" "Familial, autosomal recessive" "" "late-onset neuromyopathic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345970" "02811" "00457506" "00006" "Familial, autosomal recessive" "" "severe neonatal form; abnormalities third trimester pregnancy ; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345971" "02811" "00457507" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345972" "02811" "00457508" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345973" "02811" "00457509" "00006" "Familial, autosomal recessive" "" "severe neonatal form; abnormalities third trimester pregnancy ; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345974" "02811" "00457510" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345975" "02811" "00457511" "00006" "Familial, autosomal recessive" "" "late-onset neuromyopathic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345976" "02811" "00457512" "00006" "Familial, autosomal recessive" "" "late-onset neuromyopathic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345977" "02811" "00457513" "00006" "Familial, autosomal recessive" "" "late-onset neuromyopathic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345978" "02811" "00457514" "00006" "Familial, autosomal recessive" "" "late-onset neuromyopathic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345979" "02811" "00457515" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345980" "02811" "00457516" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345981" "02811" "00457517" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345982" "02811" "00457518" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345983" "02811" "00457519" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345984" "02811" "00457520" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345985" "02811" "00457521" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345986" "02811" "00457522" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345987" "02811" "00457523" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345988" "02811" "00457524" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345989" "02811" "00457525" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345990" "02811" "00457526" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345991" "02811" "00457527" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345992" "02811" "00457528" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345993" "02811" "00457529" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345994" "02811" "00457530" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345995" "02811" "00457531" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345996" "02811" "00457532" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345997" "02811" "00457533" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345998" "02811" "00457534" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000345999" "02811" "00457535" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346000" "02811" "00457536" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346001" "02811" "00457537" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346002" "02811" "00457538" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346003" "02811" "00457539" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346004" "02811" "00457540" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346005" "02811" "00457541" "00006" "Familial, autosomal recessive" "" "severe neonatal form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346006" "02811" "00457542" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346007" "02811" "00457543" "00006" "Familial, autosomal recessive" "" "severe neonatal form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346008" "02811" "00457544" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; abnormalities third trimester pregnancy ; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346009" "02811" "00457545" "00006" "Familial, autosomal recessive" "" "severe neonatal form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346010" "02811" "00457546" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346011" "02811" "00457547" "00006" "Familial, autosomal recessive" "" "severe neonatal form; abnormalities third trimester pregnancy ; died" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346012" "02811" "00457548" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346013" "02811" "00457549" "00006" "Familial, autosomal recessive" "" "infantile hepatic form; alive" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346014" "02811" "00457550" "00006" "Familial, autosomal recessive" "" "severe neonatal form; died" "" "" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346018" "02811" "00457554" "00006" "Familial, autosomal recessive" "" "severe neonatal form; died" "" "" "" "" "" "" "" "" "" "" "MTPD2" "mitochondrial trifunctional protein deficiency" "" "0000346034" "00198" "00457570" "00006" "Familial, autosomal recessive" "" "newborn screening; family history of sibling who died (49d) of lactic acidemia during neonatal period" "" "" "" "26d" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346040" "00198" "00457576" "00006" "Familial, autosomal recessive" "" "severe cardiomyopathy at first day of life. Died of lactic acidosis at 4 days old" "" "" "" "1d" "" "" "" "" "" "" "MTPD2" "fatty acid oxidation disorder" "" "0000346058" "02811" "00457594" "00006" "Familial, autosomal recessive" "00y00m03d" "see paper; ..., 3d-deceased; 31w-severe intrauterine cardiac insufficiency, growth retardation; birth-31w Caesarian section" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346059" "02811" "00457595" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346060" "02811" "00457596" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346061" "00198" "00457601" "00006" "Familial, autosomal recessive" "" "see paper; ..., infancy suddenly died during infection, signs of cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346062" "02811" "00457602" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased neonatal (cardiomyopath); soon after birth hypoglycemia, lactic acidosis" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346063" "00198" "00457603" "00006" "Familial, autosomal recessive" "" "deceased; infancy-onset; no cardiomyopathy, no myopathy; no neuropathy; no retinopathy; hypoglycemia" "" "" "3m" "" "" "" "" "" "" "" "LCHADD" "newborn screening,suspected disorder TFP complex" "" "0000346064" "00198" "00457604" "00006" "Familial, autosomal recessive" "" "neonatal onset; infancy-onset; no cardiomyopathy, no myopathy; no neuropathy; no retinopathy; hypoglycemia" "" "" "1d" "" "" "" "" "" "" "" "LCHADD" "newborn screening,suspected disorder TFP complex" "" "0000346065" "00198" "00457605" "00006" "Familial, autosomal recessive" "" "asymptomatic; no cardiomyopathy, no myopathy; no neuropathy; no retinopathy; no hypoglycemia" "" "" "" "" "" "" "" "" "" "" "LCHADD" "newborn screening,suspected disorder TFP complex" "" "0000346066" "00198" "00457606" "00006" "Familial, autosomal recessive" "" "asymptomatic; no cardiomyopathy, no myopathy; no neuropathy; no retinopathy; no hypoglycemia" "" "" "" "" "" "" "" "" "" "" "MTPD1" "newborn screening,suspected disorder TFP complex" "" "0000346069" "00198" "00457609" "00006" "Familial, autosomal recessive" "6m" "newborn screening;" "" "" "" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346070" "00198" "00457610" "00006" "Familial, autosomal recessive" "4.5y" "newborn screening; no motor neuropathy, no sensory neuropathy; walk independently" "" "" "" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346071" "00198" "00457611" "00006" "Familial, autosomal recessive" "6y" "newborn screening; no motor neuropathy, no sensory neuropathy; walk independently" "" "" "" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346072" "00198" "00457612" "00006" "Familial, autosomal recessive" "8y" "newborn screening; 3.5y-onset after prolonged illness; motor neuropathy; walk independently (transiently not possible)" "" "" "3.5y" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346073" "00198" "00457613" "00006" "Familial, autosomal recessive" "9y" "newborn screening; no motor neuropathy, no sensory neuropathy; walk independently" "" "" "" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346074" "00198" "00457614" "00006" "Familial, autosomal recessive" "18y" "newborn screening; motor neuropathy, sensory neuropathy; walk independently" "" "" "16y" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346075" "00198" "00457615" "00006" "Familial, autosomal recessive" "19.5y" "newborn screening; 14.5y-acute onset; motor neuropathy, sensory neuropathy; (transiently not possible)" "" "" "14.5y" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346076" "00198" "00457616" "00006" "Familial, autosomal recessive" "25y" "22y-acute onset; motor neuropathy, sensory neuropathy; not walking independently" "" "" "22y" "" "" "" "" "" "" "" "LCHADD" "mitochondrial trifunctional protein deficiency" "" "0000346077" "00198" "00457617" "00006" "Familial, autosomal recessive" "1y" "newborn screening;" "" "" "" "" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346078" "00198" "00457618" "00006" "Familial, autosomal recessive" "2.75y" "newborn screening; no motor neuropathy, no sensory neuropathy; walk independently" "" "" "" "" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346079" "00198" "00457619" "00006" "Familial, autosomal recessive" "4y" "newborn screening; no motor neuropathy, no sensory neuropathy; walk independently" "" "" "" "" "" "" "" "" "" "" "MTPD2" "newborn screening" "" "0000346080" "00198" "00457620" "00006" "Familial, autosomal recessive" "4.5y" "newborn screening; no motor neuropathy, no sensory neuropathy; walk independently" "" "" "" "" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346081" "00198" "00457621" "00006" "Familial, autosomal recessive" "5.5y" "newborn screening; motor neuropathy (abnormal electrophysiology, no clinical symptoms); walk independently" "" "" "3.8y" "" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346082" "00198" "00457622" "00006" "Familial, autosomal recessive" "7.5y" "newborn screening; motor neuropathy, sensory neuropathy (abnormal electrophysiology, no clinical symptoms); walk independently" "" "" "4.7y" "" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346083" "00198" "00457623" "00006" "Familial, autosomal recessive" "9y" "false negative newborn screening; onset infancy; motor neuropathy, sensory neuropathy; not walking independently" "" "" "" "" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346084" "00198" "00457624" "00006" "Familial, autosomal recessive" "9.5y" "newborn screening; motor neuropathy; walk independently" "" "" "4y" "" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346085" "00198" "00457625" "00006" "Familial, autosomal recessive" "9.75y" "false negative newborn screening; sensory neuropathy (abnormal electrophysiology, no clinical symptoms); walk independently" "" "" "9y9m" "" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346086" "00198" "00457626" "00006" "Familial, autosomal recessive" "9.75y" "false negative newborn screening; sensory neuropathy (abnormal electrophysiology, no clinical symptoms); walk independently" "" "" "9y9m" "" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346087" "00198" "00457627" "00006" "Familial, autosomal recessive" "11.5y" "false negative newborn screening; 4.75y-acute onset; sensory neuropathy; walk independently" "" "" "" "" "" "" "" "" "" "" "MTPD1" "newborn screening" "" "0000346088" "02811" "00457628" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346089" "02811" "00457629" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346092" "02811" "00457632" "00006" "Familial, autosomal recessive" "" "see paper; ..., 16m-deceased (sudden cardiac arrest); diarrhea, fever, myalgia, hypotonia, rhabdomyolysis, encephalopathy" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346111" "00198" "00457652" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., no muscular symptoms; normal muscle power during neurological exam" "" "" "4y" "" "" "" "" "" "" "" "LCHADD" "long-chain fatty acid oxidation disorder" "" "0000346112" "00198" "00457653" "00006" "Familial, autosomal recessive" "32y" "see paper; ..., muscle weakness, exercise intolerance, muscle pain; distal muscle weakness (legs), arefllexia, polyneuropathy legs" "" "" "9y9m" "" "" "" "" "" "" "" "LCHADD" "long-chain fatty acid oxidation disorder" "" "0000346113" "00198" "00457654" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., muscle weakness, exercise intolerance, muscle pain, wheelchair bound; severe muscle weakness proximal/distal limbs MRC 2-3 with atrophy and areflexia, severe polyneuropathy" "" "" "9y9m" "" "" "" "" "" "" "" "MTPD1" "long-chain fatty acid oxidation disorder" "" "0000346114" "00198" "00457655" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., muscle weakness, exercise intolerance, muscle pain, wheelchair bound; severe muscle weakness proximal (MRC3/4) and distal limbs MRC 0, severe distal atrophy/areflexia, severe polyneuropathy" "" "" "" "" "" "" "" "" "" "" "MTPD1" "long-chain fatty acid oxidation disorder" "" "0000346115" "00198" "00457656" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., muscle weakness, exercise intolerance, wheelchair bound; severe muscle weakness proximal (MRC3/4) and distal limbs MRC 1, severe distal atrophy/areflexia, severe polyneuropathy" "" "" "" "" "" "" "" "" "" "" "MTPD1" "long-chain fatty acid oxidation disorder" "" "0000346134" "02812" "00457675" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., lethargy; muscle pain; depression; cardiac episode with ventricular tachycardia; retinitis pigmentosa; mother pregnancy HELLP syndrome; sister died (9m)" "" "" "00y04m" "" "lethargy" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346135" "02812" "00457676" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., hypoglycemia; exercise-induced muscle pain; multiple hospitalizations (hypoglycemia); retinitis pigmentosa; pregnancy unremarkable" "" "" "00y06m" "" "hypoglycemia" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346136" "02812" "00457677" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., newborn screening; exercise-induced muscle pain; retinitis pigmentosa; mother pregnancy HELLP syndrome" "" "" "10y" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346137" "02812" "00457678" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., newborn screening: hypoglycemia; failure to thrive; muscle pain; retinitis pigmentosa; mother pregnancy preeclampsia" "" "" "05y" "" "hypoglycemia" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346138" "02811" "00457679" "00006" "Familial, autosomal recessive" "02y" "see paper; ..., newborn screening; hypoglycemia; failure to thrive; hypospadias; mother preganancy placenta previa" "" "" "02y" "" "hypoglycemia" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346141" "04172" "00457682" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe cardiomyopathy in infancy" "" "" "" "" "" "" "" "" "" "" "MTPD1" "cardiomyopathy" "" "0000346143" "02812" "00457684" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346144" "02812" "00457685" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346145" "02812" "00457686" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346146" "02812" "00457687" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother pregnancy HELLP syndrome" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346147" "02812" "00457688" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic/cardiac dysfunction, mother pregnancy HELLP syndrome" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346148" "02812" "00457689" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346149" "02812" "00457690" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346150" "02812" "00457691" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346151" "02812" "00457692" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic/cardiac dysfunction, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346152" "02812" "00457693" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346153" "02812" "00457694" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mild cardiomyopathy, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346154" "02812" "00457695" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346155" "02812" "00457696" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, peripheral neuropathy, myopathy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346156" "02812" "00457697" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother pregnancy HELLP syndrome" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346157" "02812" "00457698" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346158" "02812" "00457699" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346159" "02812" "00457700" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346160" "02812" "00457701" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346161" "02812" "00457702" "00006" "Familial, autosomal recessive" "" "see paper; ..., hepatic, mother acute fatty liver of pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346162" "02812" "00457703" "00006" "Familial, autosomal recessive" "" "see paper; ..., cardiac" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346163" "02812" "00457704" "00006" "Familial, autosomal recessive" "" "see paper; ..., cardiac" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346164" "02812" "00457705" "00006" "Familial, autosomal recessive" "" "see paper; ..., cardiac" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346165" "02812" "00457706" "00006" "Familial, autosomal recessive" "" "see paper; ..., neuromuscular" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346166" "02812" "00457707" "00006" "Familial, autosomal recessive" "" "see paper; ..., neuromuscular" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346167" "02811" "00457708" "00006" "Familial, autosomal recessive" "" "see papers; ... (long-term follow-up)" "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346168" "02811" "00457710" "00006" "Familial, autosomal recessive" "07y" "see paper; ... (long-term follow-up)" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346169" "02811" "00457711" "00006" "Familial, autosomal recessive" "03y" "see paper; ... (long-term follow-up)" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346170" "02811" "00457712" "00006" "Familial, autosomal recessive" "04y" "see paper; ... (long-term follow-up)" "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346171" "00198" "00457713" "00006" "Familial, autosomal recessive" "" "see paper; ..., recurrent rhabdomyolyses, myoglobinuria" "" "" "" "17y" "" "" "" "" "" "" "LCHADD" "myopathy" "" "0000346172" "00198" "00457714" "00006" "Familial, autosomal recessive" "" "see paper; ..., neuropathy (NLG N. medianus >38 m/s), distal muscle atrophy, exercice intolerance" "" "" "" "9y" "" "" "" "" "" "" "LCHADD" "neuropathy" "" "0000346174" "05113" "00457725" "00006" "Familial, autosomal recessive" "45y" "see paper; ..., 5y-rhabdomyolysis during exercise or fasting; peripheral neuropathy lower extremities, irritable bowel syndrome; 9y-progressive vision loss" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000346175" "02811" "00457726" "00006" "Familial, autosomal recessive" "" "see paper; ..., 6d-deceased; no hypoparathyroidism; no peripheral neuropathy; maternal pregnancy no complications" "" "" "2d" "" "hypotonia, coma" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346176" "02811" "00457727" "00006" "Familial, autosomal recessive" "" "see paper; ..., 44d-deceased; no hypoparathyroidism; no peripheral neuropathy; maternal pregnancy no complications" "" "" "2d" "" "cardiac failure" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346177" "02811" "00457728" "00006" "Familial, autosomal recessive" "" "see paper; ..., 13d-deceased; no hypoparathyroidism; no peripheral neuropathy; maternal pregnancy HELLP syndrome" "" "" "8d" "" "cardiac failure" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346182" "02811" "00457733" "00006" "Familial, autosomal recessive" "12y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346183" "02811" "00457734" "00006" "Familial, autosomal recessive" "27y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "MTPD1" "mitochondrial trifunctional protein deficiency" "" "0000346184" "02811" "00457735" "00006" "Familial, autosomal recessive" "12y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346185" "02811" "00457736" "00006" "Familial, autosomal recessive" "19y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346186" "02811" "00457737" "00006" "Familial, autosomal recessive" "19y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "LCHADD" "LCHAD deficiency" "" "0000346402" "00198" "00457952" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., birth 35w, Cesarean sectionweight 1900g (3 perc.); intrauterine growth retardation, pathological CTG" "" "" "" "" "" "" "" "" "" "" "asymptomatic" "newborn screening" "" "0000346403" "00198" "00457953" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., birth 37w, Cesarean sectionweight 1700g (<3 perc.); pathological CTG, placenta insufficiency" "" "" "" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346404" "00198" "00457954" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 36w, Spontaneousweight 2380g (25 perc.); placenta previa" "" "" "" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346405" "00198" "00457955" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 39w, Spontaneousweight 2480g (3 perc.); pregnancy no complications" "" "" "" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" "0000346407" "00198" "00457957" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 31w, Cesarean sectionweight 1600g (50 perc.); fetal distress, no other complications pregnancy" "" "" "" "" "" "" "" "" "" "" "LCHADD" "newborn screening" "" ## Screenings ## Do not remove or alter this header ## ## Count = 201 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000013" "00000013" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000033" "00000033" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000044" "00000044" "1" "00004" "" "2012-05-11 13:18:47" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000100" "00000100" "1" "00004" "" "2012-05-11 13:19:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000019864" "00019870" "1" "00705" "00705" "2014-09-10 09:39:11" "00006" "2014-11-07 22:40:43" "SEQ" "DNA" "" "" "0000181978" "00181030" "1" "02568" "02568" "2018-09-21 11:28:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000293842" "00292674" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293843" "00292675" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335224" "00333998" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000363493" "00362264" "1" "01741" "01741" "2021-04-19 14:27:01" "" "" "SEQ-NG" "DNA" "blood" "" "0000396804" "00395566" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000401460" "00400216" "1" "04188" "04188" "2022-01-26 12:15:57" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000401461" "00400217" "1" "04188" "04188" "2022-01-26 12:28:13" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000448386" "00446811" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448786" "00447209" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000453699" "00452097" "1" "00006" "00006" "2024-07-09 16:56:39" "" "" "SEQ" "DNA" "" "" "0000455232" "00453620" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000459087" "00457467" "1" "00006" "00006" "2024-11-13 15:08:32" "00006" "2024-11-13 15:13:13" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459088" "00457468" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459089" "00457469" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459090" "00457470" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459091" "00457471" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459092" "00457472" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459093" "00457473" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459094" "00457474" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459095" "00457475" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459096" "00457476" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459097" "00457477" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459098" "00457478" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459099" "00457479" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459100" "00457480" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459101" "00457481" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459102" "00457482" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459103" "00457483" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459104" "00457484" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459105" "00457485" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459106" "00457486" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459107" "00457487" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459108" "00457488" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459109" "00457489" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459110" "00457490" "1" "00006" "00006" "2024-11-13 15:15:07" "" "" "SEQ-NG" "DNA" "" "" "0000459111" "00457491" "1" "00006" "00006" "2024-11-13 15:34:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459112" "00457492" "1" "00006" "00006" "2024-11-13 15:37:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459113" "00457493" "1" "00006" "00006" "2024-11-13 15:48:41" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459114" "00457494" "1" "00006" "00006" "2024-11-13 15:50:44" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459115" "00457495" "1" "00006" "00006" "2024-11-13 16:01:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459116" "00457496" "1" "00006" "00006" "2024-11-13 16:18:10" "" "" "SEQ" "DNA" "" "" "0000459117" "00457497" "1" "00006" "00006" "2024-11-13 16:28:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459118" "00457498" "1" "00006" "00006" "2024-11-13 17:08:55" "" "" "SEQ;SEQ-NG" "DNA" "" "wes" "0000459119" "00457499" "1" "00006" "00006" "2024-11-13 17:15:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459120" "00457500" "1" "00006" "00006" "2024-11-13 17:28:44" "" "" "SEQ" "DNA" "" "" "0000459121" "00457501" "1" "00006" "00006" "2024-11-13 17:28:44" "" "" "SEQ" "DNA" "" "" "0000459122" "00457502" "1" "00006" "00006" "2024-11-13 17:28:44" "" "" "SEQ" "DNA" "" "" "0000459123" "00457503" "1" "00006" "00006" "2024-11-13 19:03:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459125" "00457505" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459126" "00457506" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459127" "00457507" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459128" "00457508" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459129" "00457509" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459130" "00457510" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459131" "00457511" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459132" "00457512" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459133" "00457513" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459134" "00457514" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459135" "00457515" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459136" "00457516" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459137" "00457517" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459138" "00457518" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459139" "00457519" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459140" "00457520" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459141" "00457521" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459142" "00457522" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459143" "00457523" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459144" "00457524" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459145" "00457525" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459146" "00457526" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459147" "00457527" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459148" "00457528" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459149" "00457529" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459150" "00457530" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459151" "00457531" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459152" "00457532" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459153" "00457533" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459154" "00457534" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459155" "00457535" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459156" "00457536" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459157" "00457537" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459158" "00457538" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459159" "00457539" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459160" "00457540" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459161" "00457541" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459162" "00457542" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459163" "00457543" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459164" "00457544" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459165" "00457545" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459166" "00457546" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459167" "00457547" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459168" "00457548" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459169" "00457549" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459170" "00457550" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459174" "00457554" "1" "00006" "00006" "2024-11-13 21:02:29" "" "" "SEQ" "DNA" "" "" "0000459190" "00457570" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459196" "00457576" "1" "00006" "00006" "2024-11-14 16:02:37" "" "" "SEQ" "DNA" "" "dried blood spot sample" "0000459214" "00457594" "1" "00006" "00006" "2024-11-14 21:42:18" "" "" "SEQ" "DNA" "" "" "0000459215" "00457595" "1" "00006" "00006" "2024-11-14 21:54:09" "" "" "SEQ" "DNA" "" "" "0000459216" "00457596" "1" "00006" "00006" "2024-11-14 21:58:26" "" "" "SEQ" "DNA" "" "" "0000459217" "00457597" "1" "00006" "00006" "2024-11-14 22:07:18" "" "" "SEQ" "DNA" "" "" "0000459218" "00457598" "1" "00006" "00006" "2024-11-14 22:11:06" "" "" "SEQ" "DNA" "" "" "0000459219" "00457599" "1" "00006" "00006" "2024-11-14 22:13:34" "" "" "SEQ" "DNA" "" "" "0000459220" "00457600" "1" "00006" "00006" "2024-11-14 22:17:25" "" "" "SEQ" "DNA" "" "" "0000459221" "00457601" "1" "00006" "00006" "2024-11-14 22:26:14" "" "" "SEQ" "DNA" "" "" "0000459222" "00457602" "1" "00006" "00006" "2024-11-14 22:35:09" "" "" "SEQ" "DNA" "" "" "0000459223" "00457603" "1" "00006" "00006" "2024-11-15 09:52:47" "" "" "SEQ" "DNA" "" "" "0000459224" "00457604" "1" "00006" "00006" "2024-11-15 09:52:47" "" "" "SEQ" "DNA" "" "" "0000459225" "00457605" "1" "00006" "00006" "2024-11-15 09:52:47" "" "" "SEQ" "DNA" "" "" "0000459226" "00457606" "1" "00006" "00006" "2024-11-15 09:52:47" "" "" "SEQ" "DNA" "" "" "0000459229" "00457609" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459230" "00457610" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459231" "00457611" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459232" "00457612" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459233" "00457613" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459234" "00457614" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459235" "00457615" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459236" "00457616" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459237" "00457617" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459238" "00457618" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459239" "00457619" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459240" "00457620" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459241" "00457621" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459242" "00457622" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459243" "00457623" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459244" "00457624" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459245" "00457625" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459246" "00457626" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459247" "00457627" "1" "00006" "00006" "2024-11-15 11:14:56" "" "" "SEQ" "DNA" "" "" "0000459248" "00457628" "1" "00006" "00006" "2024-11-15 12:05:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459249" "00457629" "1" "00006" "00006" "2024-11-15 12:05:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459252" "00457632" "1" "00006" "00006" "2024-11-15 12:12:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000459272" "00457652" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459273" "00457653" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459274" "00457654" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459275" "00457655" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459276" "00457656" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459295" "00457675" "1" "00006" "00006" "2024-11-15 21:17:55" "" "" "SEQ" "DNA" "" "" "0000459296" "00457676" "1" "00006" "00006" "2024-11-15 21:21:10" "" "" "SEQ" "DNA" "" "" "0000459297" "00457677" "1" "00006" "00006" "2024-11-15 22:27:25" "" "" "SEQ" "DNA" "" "" "0000459298" "00457678" "1" "00006" "00006" "2024-11-15 22:30:42" "" "" "SEQ" "DNA" "" "" "0000459299" "00457679" "1" "00006" "00006" "2024-11-15 22:34:16" "" "" "SEQ" "DNA" "" "" "0000459302" "00457682" "1" "00006" "00006" "2024-11-16 09:32:18" "" "" "SEQ-NG" "DNA" "" "WES" "0000459304" "00457684" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459305" "00457685" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459306" "00457686" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459307" "00457687" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459308" "00457688" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459309" "00457689" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459310" "00457690" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459311" "00457691" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459312" "00457692" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459313" "00457693" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459314" "00457694" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459315" "00457695" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459316" "00457696" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459317" "00457697" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459318" "00457698" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459319" "00457699" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459320" "00457700" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459321" "00457701" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459322" "00457702" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459323" "00457703" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459324" "00457704" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459325" "00457705" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459326" "00457706" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459327" "00457707" "1" "00006" "00006" "2024-11-16 11:23:45" "" "" "SEQ" "DNA" "" "" "0000459328" "00457708" "1" "00006" "00006" "2024-11-16 11:43:27" "" "" "SEQ" "DNA" "" "" "0000459329" "00457709" "1" "00006" "00006" "2024-11-16 11:45:41" "" "" "SEQ" "DNA" "" "" "0000459330" "00457710" "1" "00006" "00006" "2024-11-16 10:12:52" "00006" "2024-11-16 11:50:23" "SEQ" "DNA" "" "" "0000459331" "00457711" "1" "00006" "00006" "2024-11-16 10:12:52" "" "" "SEQ" "DNA" "" "" "0000459332" "00457712" "1" "00006" "00006" "2024-11-16 10:12:52" "" "" "SEQ" "DNA" "" "" "0000459333" "00457713" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459334" "00457714" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459336" "00457716" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459337" "00457717" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459338" "00457718" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459339" "00457719" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459340" "00457720" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459341" "00457721" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459342" "00457722" "1" "00006" "00006" "2024-11-16 12:42:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000459345" "00457725" "1" "00006" "00006" "2024-11-16 16:00:56" "" "" "SEQ" "DNA" "" "" "0000459346" "00457726" "1" "00006" "00006" "2024-11-16 17:08:42" "" "" "SEQ" "DNA" "" "" "0000459347" "00457727" "1" "00006" "00006" "2024-11-16 17:08:42" "" "" "SEQ" "DNA" "" "" "0000459348" "00457728" "1" "00006" "00006" "2024-11-16 17:08:42" "" "" "SEQ" "DNA" "" "" "0000459353" "00457733" "1" "00006" "00006" "2024-11-16 19:53:05" "" "" "SEQ" "DNA" "" "" "0000459354" "00457734" "1" "00006" "00006" "2024-11-16 19:53:05" "" "" "SEQ" "DNA" "" "" "0000459355" "00457735" "1" "00006" "00006" "2024-11-16 19:53:05" "" "" "SEQ" "DNA" "" "" "0000459356" "00457736" "1" "00006" "00006" "2024-11-16 19:53:05" "" "" "SEQ" "DNA" "" "" "0000459357" "00457737" "1" "00006" "00006" "2024-11-16 19:53:05" "" "" "SEQ" "DNA" "" "" "0000459572" "00457952" "1" "00006" "00006" "2024-11-22 14:42:36" "" "" "SEQ" "DNA" "" "" "0000459573" "00457953" "1" "00006" "00006" "2024-11-22 14:42:36" "" "" "SEQ" "DNA" "" "" "0000459574" "00457954" "1" "00006" "00006" "2024-11-22 14:42:36" "" "" "SEQ" "DNA" "" "" "0000459575" "00457955" "1" "00006" "00006" "2024-11-22 14:42:36" "" "" "SEQ" "DNA" "" "" "0000459577" "00457957" "1" "00006" "00006" "2024-11-22 14:42:36" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 234 "{{screeningid}}" "{{geneid}}" "0000000013" "AGL" "0000000013" "ATP7B" "0000000013" "COL7A1" "0000000013" "HADHA" "0000000013" "MEFV" "0000000013" "NHLRC1" "0000000013" "PAH" "0000000013" "SMPD1" "0000000033" "ATP7B" "0000000033" "CDH23" "0000000033" "CYP21A2" "0000000033" "DPYD" "0000000033" "ETFB" "0000000033" "GAA" "0000000033" "HADHA" "0000000033" "HESX1" "0000000033" "NHLRC1" "0000000033" "PHEX" "0000000033" "SERPINA1" "0000000033" "USH2A" "0000000044" "ASS1" "0000000044" "ATP7B" "0000000044" "DPYD" "0000000044" "ETFB" "0000000044" "GCDH" "0000000044" "GLB1" "0000000044" "HADHA" "0000000044" "HGSNAT" "0000000044" "IGHMBP2" "0000000044" "KCNQ2" "0000000044" "MKS1" "0000000044" "MYO5A" "0000000100" "ADAMTS13" "0000000100" "ATP7B" "0000000100" "CFTR" "0000000100" "ETFB" "0000000100" "HADHA" "0000000100" "HESX1" "0000000100" "HGSNAT" "0000000100" "LAMA2" "0000000100" "NHLRC1" "0000000100" "NPHS1" "0000000100" "PKHD1" "0000000100" "SERPINA1" "0000019864" "HADHA" "0000019864" "MED13L" "0000181978" "HADHA" "0000335224" "HADHA" "0000363493" "HADHA" "0000396804" "HADHA" "0000401460" "HADHA" "0000401461" "HADHA" "0000453699" "HADHA" "0000459087" "HADHA" "0000459088" "HADHA" "0000459089" "HADHA" "0000459090" "HADHA" "0000459091" "HADHA" "0000459092" "HADHA" "0000459093" "HADHA" "0000459094" "HADHA" "0000459095" "HADHA" "0000459096" "HADHA" "0000459097" "HADHA" "0000459098" "HADHA" "0000459099" "HADHA" "0000459100" "HADHA" "0000459101" "HADHA" "0000459102" "HADHA" "0000459103" "HADHA" "0000459104" "HADHA" "0000459105" "HADHA" "0000459106" "HADHA" "0000459107" "HADHA" "0000459108" "HADHA" "0000459109" "HADHA" "0000459110" "HADHA" "0000459111" "HADHA" "0000459112" "HADHA" "0000459113" "HADHA" "0000459114" "HADHA" "0000459115" "HADHA" "0000459116" "HADHA" "0000459117" "HADHA" "0000459120" "HADHA" "0000459121" "HADHA" "0000459122" "HADHA" "0000459125" "HADHA" "0000459126" "HADHA" "0000459127" "HADHA" "0000459128" "HADHA" "0000459129" "HADHA" "0000459130" "HADHA" "0000459131" "HADHA" "0000459132" "HADHA" "0000459133" "HADHA" "0000459134" "HADHA" "0000459135" "HADHA" "0000459136" "HADHA" "0000459137" "HADHA" "0000459138" "HADHA" "0000459139" "HADHA" "0000459140" "HADHA" "0000459141" "HADHA" "0000459142" "HADHA" "0000459143" "HADHA" "0000459144" "HADHA" "0000459145" "HADHA" "0000459146" "HADHA" "0000459147" "HADHA" "0000459148" "HADHA" "0000459149" "HADHA" "0000459150" "HADHA" "0000459151" "HADHA" "0000459152" "HADHA" "0000459153" "HADHA" "0000459154" "HADHA" "0000459155" "HADHA" "0000459156" "HADHA" "0000459157" "HADHA" "0000459158" "HADHA" "0000459159" "HADHA" "0000459160" "HADHA" "0000459161" "HADHA" "0000459162" "HADHA" "0000459163" "HADHA" "0000459164" "HADHA" "0000459165" "HADHA" "0000459166" "HADHA" "0000459167" "HADHA" "0000459168" "HADHA" "0000459169" "HADHA" "0000459170" "HADHB" "0000459174" "HADHB" "0000459190" "HADHA" "0000459196" "HADHA" "0000459214" "HADHA" "0000459215" "HADHA" "0000459216" "HADHA" "0000459217" "HADHA" "0000459218" "HADHA" "0000459219" "HADHA" "0000459220" "HADHA" "0000459221" "HADHA" "0000459222" "HADHA" "0000459223" "HADHA" "0000459224" "HADHA" "0000459225" "HADHA" "0000459226" "HADHA" "0000459229" "HADHA" "0000459230" "HADHA" "0000459231" "HADHA" "0000459232" "HADHA" "0000459233" "HADHA" "0000459234" "HADHA" "0000459235" "HADHA" "0000459236" "HADHA" "0000459237" "HADHA" "0000459238" "HADHA" "0000459239" "HADHB" "0000459240" "HADHA" "0000459241" "HADHA" "0000459242" "HADHA" "0000459243" "HADHA" "0000459244" "HADHA" "0000459245" "HADHA" "0000459246" "HADHA" "0000459247" "HADHA" "0000459248" "HADHA" "0000459249" "HADHA" "0000459252" "HADHA" "0000459272" "HADHA" "0000459273" "HADHA" "0000459274" "HADHA" "0000459275" "HADHA" "0000459276" "HADHA" "0000459295" "HADHA" "0000459296" "HADHA" "0000459297" "HADHA" "0000459298" "HADHA" "0000459299" "HADHA" "0000459304" "HADHA" "0000459305" "HADHA" "0000459306" "HADHA" "0000459307" "HADHA" "0000459308" "HADHA" "0000459309" "HADHA" "0000459310" "HADHA" "0000459311" "HADHA" "0000459312" "HADHA" "0000459313" "HADHA" "0000459314" "HADHA" "0000459315" "HADHA" "0000459316" "HADHA" "0000459317" "HADHA" "0000459318" "HADHA" "0000459319" "HADHA" "0000459320" "HADHA" "0000459321" "HADHA" "0000459322" "HADHA" "0000459323" "HADHA" "0000459324" "HADHA" "0000459325" "HADHA" "0000459326" "HADHA" "0000459327" "HADHA" "0000459328" "HADHA" "0000459329" "HADHA" "0000459330" "HADHA" "0000459331" "HADHA" "0000459332" "HADHA" "0000459333" "HADHA" "0000459334" "HADHA" "0000459336" "HADHA" "0000459337" "HADHA" "0000459338" "HADHA" "0000459339" "HADHA" "0000459340" "HADHA" "0000459341" "HADHA" "0000459342" "HADHA" "0000459345" "HADHA" "0000459346" "HADHA" "0000459347" "HADHA" "0000459348" "HADHA" "0000459348" "HADHB" "0000459353" "HADHA" "0000459354" "HADHA" "0000459355" "HADHA" "0000459356" "HADHA" "0000459357" "HADHA" "0000459572" "HADHA" "0000459573" "HADHA" "0000459574" "HADHA" "0000459575" "HADHA" "0000459577" "HADHA" ## 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 = 298 "{{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}}" "0000000854" "0" "50" "2" "26432662" "26432662" "subst" "0.00606292" "00002" "HADHA_000001" "g.26432662G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.26209793G>T" "" "VUS" "" "0000000856" "0" "50" "2" "26432662" "26432662" "subst" "0.00606292" "00002" "HADHA_000001" "g.26432662G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.26209793G>T" "" "VUS" "" "0000000857" "0" "50" "2" "26432662" "26432662" "subst" "0.00606292" "00002" "HADHA_000001" "g.26432662G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.26209793G>T" "" "VUS" "" "0000000858" "0" "50" "2" "26432662" "26432662" "subst" "0.00606292" "00002" "HADHA_000001" "g.26432662G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.26209793G>T" "" "VUS" "" "0000040326" "0" "30" "2" "26457124" "26457124" "subst" "0" "00705" "HADHA_000002" "g.26457124C>T" "" "{PMID:Gilissen 2014:24896178}" "" "Val138Val" "" "De novo" "?" "" "0" "" "" "g.26234256C>T" "" "likely benign" "" "0000281223" "0" "30" "2" "26467465" "26467465" "subst" "0.00250065" "02325" "HADHA_000003" "g.26467465C>A" "" "" "" "HADHA(NM_000182.5):c.-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26244597C>A" "" "likely benign" "" "0000405766" "11" "90" "2" "26418053" "26418053" "subst" "0.00126711" "02568" "HADHA_000005" "g.26418053C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic" "" "0000405769" "21" "90" "2" "26415264" "26415267" "del" "0" "02568" "HADHA_000004" "g.26415264_26415267del" "" "" "" "1915_1918delTATC" "" "Germline" "" "" "0" "" "" "g.26192395_26192398del" "" "pathogenic" "" "0000515464" "0" "30" "2" "26410302" "26410302" "subst" "4.83947E-5" "01804" "HADHA_000007" "g.26410302G>A" "" "" "" "GAREML(NM_001168241.1):c.1801G>A (p.(Ala601Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26187433G>A" "" "likely benign" "" "0000515466" "0" "50" "2" "26410998" "26410998" "subst" "0" "01804" "HADHA_000009" "g.26410998C>T" "" "" "" "GAREML(NM_001168241.1):c.2497C>T (p.(Arg833Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26188129C>T" "" "VUS" "" "0000515467" "0" "50" "2" "26414235" "26414235" "subst" "1.2183E-5" "02325" "HADHA_000010" "g.26414235C>T" "" "" "" "HADHA(NM_000182.5):c.2176G>A (p.A726T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26191366C>T" "" "VUS" "" "0000515468" "0" "50" "2" "26414378" "26414378" "subst" "0" "01804" "HADHA_000011" "g.26414378C>A" "" "" "" "HADHA(NM_000182.4):c.2120G>T (p.(Gly707Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26191509C>A" "" "VUS" "" "0000515469" "0" "30" "2" "26414386" "26414386" "subst" "6.50354E-5" "02325" "HADHA_000012" "g.26414386G>A" "" "" "" "HADHA(NM_000182.5):c.2112C>T (p.A704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26191517G>A" "" "likely benign" "" "0000515470" "0" "30" "2" "26415198" "26415198" "subst" "0.00414609" "01943" "HADHA_000013" "g.26415198G>A" "" "" "" "HADHA(NM_000182.4):c.1981C>T (p.L661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26192329G>A" "" "likely benign" "" "0000515471" "0" "30" "2" "26415218" "26415218" "subst" "0" "01804" "HADHA_000014" "g.26415218C>T" "" "" "" "HADHA(NM_000182.4):c.1961G>A (p.(Ser654Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26192349C>T" "" "likely benign" "" "0000515473" "0" "30" "2" "26426977" "26426977" "subst" "3.24863E-5" "01804" "HADHA_000015" "g.26426977C>T" "" "" "" "HADHA(NM_000182.4):c.1174G>A (p.(Ala392Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26204108C>T" "" "likely benign" "" "0000515474" "0" "50" "2" "26457222" "26457222" "subst" "1.62506E-5" "02325" "HADHA_000016" "g.26457222T>C" "" "" "" "HADHA(NM_000182.5):c.316A>G (p.(Met106Val), p.M106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26234354T>C" "" "VUS" "" "0000607862" "0" "30" "2" "26415267" "26415267" "subst" "3.24855E-5" "02327" "HADHA_000017" "g.26415267T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26192398T>C" "" "likely benign" "" "0000607863" "0" "30" "2" "26424010" "26424010" "subst" "0" "02327" "HADHA_000019" "g.26424010T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26201141T>G" "" "likely benign" "" "0000607864" "0" "30" "2" "26426939" "26426939" "subst" "0.000479172" "02327" "HADHA_000020" "g.26426939C>G" "" "" "" "HADHA(NM_000182.4):c.1212G>C (p.V404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26204070C>G" "" "likely benign" "" "0000607865" "0" "50" "2" "26453084" "26453084" "subst" "0.000856797" "02327" "HADHA_000022" "g.26453084C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26230216C>G" "" "VUS" "" "0000621011" "0" "30" "2" "26417952" "26417952" "subst" "2.03061E-5" "01943" "HADHA_000018" "g.26417952G>C" "" "" "" "HADHA(NM_000182.4):c.1620+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26195083G>C" "" "likely benign" "" "0000621012" "0" "50" "2" "26427022" "26427022" "subst" "2.03074E-5" "01943" "HADHA_000021" "g.26427022C>T" "" "" "" "HADHA(NM_000182.4):c.1129G>A (p.A377T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26204153C>T" "" "VUS" "" "0000650531" "1" "50" "2" "26414385" "26414385" "subst" "0.000223581" "03575" "HADHA_000023" "g.26414385C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs146406360}" "Germline" "" "rs146406360" "0" "" "" "g.26191516C>T" "" "VUS" "" "0000650532" "1" "50" "2" "26420574" "26420574" "subst" "0.000129995" "03575" "HADHA_000024" "g.26420574T>C" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs145422395}" "Germline" "" "rs145422395" "0" "" "" "g.26197705T>C" "" "VUS" "" "0000676599" "0" "50" "2" "26424067" "26424067" "subst" "4.0621E-6" "02325" "HADHA_000025" "g.26424067A>G" "" "" "" "HADHA(NM_000182.5):c.1343T>C (p.V448A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718704" "0" "30" "2" "26426939" "26426939" "subst" "0.000479172" "01943" "HADHA_000020" "g.26426939C>G" "" "" "" "HADHA(NM_000182.4):c.1212G>C (p.V404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718705" "0" "50" "2" "26438044" "26438044" "subst" "4.06626E-6" "02325" "HADHA_000026" "g.26438044C>T" "" "" "" "HADHA(NM_000182.5):c.677G>A (p.G226E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000733233" "1" "70" "2" "26418053" "26418053" "subst" "0.00126711" "00000" "HADHA_000005" "g.26418053C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "likely pathogenic" "" "0000733650" "2" "70" "2" "26427019" "26427019" "subst" "0" "00000" "HADHA_000027" "g.26427019G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.26204150G>A" "" "likely pathogenic" "" "0000764187" "0" "70" "2" "26414130" "26414130" "subst" "0" "01741" "HADHA_000028" "g.26414130A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000800543" "0" "50" "2" "26424085" "26424085" "subst" "8.12486E-6" "02325" "HADHA_000029" "g.26424085T>A" "" "" "" "HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000828483" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00000" "HADHA_000005" "g.26418053C>G" "" "{PMID:Perea-Romero 2021:34448047}" "" "HADHA, c.1528G>C, p.Glu510Gln, homozygous" "" "Unknown" "?" "" "0" "" "" "g.26195184C>G" "" "pathogenic" "ACMG" "0000834716" "3" "90" "2" "26435459" "26435459" "subst" "1.62479E-5" "04188" "HADHA_000030" "g.26435459C>T" "" "{PMID:Khani 2020:32897397}" "" "" "" "Germline" "yes" "rs752317877" "0" "" "" "g.26212590C>T" "" "pathogenic (recessive)" "" "0000834717" "3" "90" "2" "26435459" "26435459" "subst" "1.62479E-5" "04188" "HADHA_000030" "g.26435459C>T" "" "{PMID:Khani 2020:32897397}" "" "" "" "Germline" "yes" "rs752317877" "0" "" "" "g.26212590C>T" "" "pathogenic (recessive)" "" "0000849835" "0" "30" "2" "26462021" "26462021" "subst" "0.0010166" "02326" "HADHA_000031" "g.26462021A>C" "" "" "" "HADHA(NM_000182.5):c.68-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858469" "0" "50" "2" "26424085" "26424085" "subst" "8.12486E-6" "01943" "HADHA_000029" "g.26424085T>A" "" "" "" "HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885106" "0" "90" "2" "26417450" "26417450" "subst" "2.03051E-5" "02327" "HADHA_000032" "g.26417450G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911667" "0" "10" "2" "26414336" "26414336" "subst" "0.00489363" "02326" "HADHA_000033" "g.26414336A>G" "" "" "" "HADHA(NM_000182.5):c.2146+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911668" "0" "30" "2" "26416647" "26416647" "subst" "0.000966592" "02325" "HADHA_000034" "g.26416647C>T" "" "" "" "HADHA(NM_000182.5):c.1690-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911669" "0" "10" "2" "26417950" "26417950" "subst" "0.00462561" "02325" "HADHA_000035" "g.26417950C>G" "" "" "" "HADHA(NM_000182.5):c.1620+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000957929" "0" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic" "" "0000958272" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.26195184C>G" "100085" "pathogenic (recessive)" "ACMG" "0000975175" "0" "50" "2" "26414465" "26414465" "subst" "4.06345E-5" "01804" "HADHA_000036" "g.26414465A>G" "" "" "" "HADHA(NM_000182.5):c.2033T>C (p.(Val678Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975176" "0" "30" "2" "26461966" "26461966" "subst" "0" "01804" "HADHA_000037" "g.26461966T>G" "" "" "" "HADHA(NM_000182.5):c.109+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000988454" "1" "90" "2" "26418053" "26418053" "subst" "0" "00006" "HADHA_000038" "g.26418053C>T" "2/1000 control individuals" "{PMID:Randon 2020:32706845}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>T" "" "pathogenic (recessive)" "" "0001007265" "1" "70" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "likely pathogenic" "" "0001007385" "2" "90" "2" "26415264" "26415267" "del" "0" "00006" "HADHA_000004" "g.26415264_26415267del" "" "{PMID:Navarrete 2019:30626930}" "" "1915_1918delTATC" "" "Germline" "" "" "0" "" "" "g.26192395_26192398del" "" "pathogenic" "" "0001016836" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C (E474Q)" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016837" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016838" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016839" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016840" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016841" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016842" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016843" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016844" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016845" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016846" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016847" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016848" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016849" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016850" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016851" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016852" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016853" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016854" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016855" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016856" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016857" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016858" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016859" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1994:7811722}" "" "G1528C" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016860" "3" "90" "2" "26437385" "26437385" "subst" "0" "00006" "HADHA_000040" "g.26437385A>T" "" "{PMID:Ibdah 1998:9739053}" "" "" "" "Germline" "" "" "0" "" "" "g.26214516A>T" "" "pathogenic (recessive)" "" "0001016861" "1" "90" "2" "26437316" "26437316" "subst" "8.13782E-6" "00006" "HADHA_000041" "g.26437316A>T" "" "{PMID:Ibdah 1998:9739053}" "" "" "" "Germline" "" "" "0" "" "" "g.26214447A>T" "" "pathogenic (recessive)" "" "0001016862" "2" "90" "2" "26437359" "26437359" "subst" "0" "00006" "HADHA_000042" "g.26437359G>A" "" "{PMID:Ibdah 1998:9739053}" "" "" "mRNA r.871c>u (Arg291*) allele not detectable" "Germline" "" "" "0" "" "" "g.26214490G>A" "" "pathogenic (recessive)" "" "0001016863" "1" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1997:9266371}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016864" "1" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:IJlst 1997:9266371}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016865" "2" "90" "2" "26432709" "26432709" "subst" "0" "00006" "HADHA_000043" "g.26432709A>G" "" "{PMID:IJlst 1997:9266371}" "" "T1025C" "" "Germline" "" "" "0" "" "" "g.26209840A>G" "" "pathogenic (recessive)" "" "0001016866" "2" "90" "2" "26414369" "26414370" "ins" "0" "00006" "HADHA_000044" "g.26414369_26414370insG" "" "{PMID:IJlst 1997:9266371}" "" "C2129ins" "variant might also be c.2132dup" "Germline" "" "" "0" "" "" "g.26191500_26191501insG" "" "pathogenic (recessive)" "" "0001016867" "11" "90" "2" "26461801" "26461801" "subst" "0" "00006" "HADHA_000045" "g.26461801C>T" "" "{PMID:Brackett 1995:7738175}, {PMID:Ushikubo 1996:8651282}" "" "" "" "Germline" "" "" "0" "" "" "g.26238933C>T" "" "pathogenic (recessive)" "" "0001016868" "21" "90" "2" "26461799" "26461799" "subst" "4.8744E-5" "00006" "HADHA_000046" "g.26461799T>C" "" "{PMID:Brackett 1995:7738175}, {PMID:Ushikubo 1996:8651282}" "" "" "" "Germline" "" "" "0" "" "" "g.26238931T>C" "" "pathogenic (recessive)" "" "0001016869" "1" "90" "2" "26461799" "26461799" "subst" "4.8744E-5" "00006" "HADHA_000046" "g.26461799T>C" "" "{PMID:Liewluck 2013:23868323}" "" "" "" "Germline" "" "" "0" "" "" "g.26238931T>C" "" "pathogenic (recessive)" "" "0001016870" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Liewluck 2013:23868323}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016871" "11" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Isaacs 1996:8865274}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016872" "21" "90" "2" "26417450" "26417450" "subst" "2.03051E-5" "00006" "HADHA_000032" "g.26417450G>A" "" "{PMID:Isaacs 1996:8865274}" "" "C1678T (R524Stop)" "significantly reduced RNA expression of this allele" "Germline" "" "" "0" "" "" "g.26194581G>A" "" "pathogenic (recessive)" "" "0001016873" "11" "90" "2" "26438018" "26438018" "subst" "0" "00006" "HADHA_000047" "g.26438018G>A" "" "{PMID:Yang 2022:34878152}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26215149G>A" "" "pathogenic (recessive)" "" "0001016874" "21" "90" "2" "26414391" "26414391" "subst" "4.06468E-6" "00006" "HADHA_000048" "g.26414391C>T" "" "{PMID:Yang 2022:34878152}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26191522C>T" "" "pathogenic (recessive)" "" "0001016875" "11" "90" "2" "26438018" "26438018" "subst" "0" "00006" "HADHA_000047" "g.26438018G>A" "" "{PMID:Yang 2022:34878152}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001016876" "21" "90" "2" "26414391" "26414391" "subst" "4.06468E-6" "00006" "HADHA_000048" "g.26414391C>T" "" "{PMID:Yang 2022:34878152}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001016877" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sims 1995:7846063}" "" "" "" "Germline" "" "" "0" "" "" "g.26191522C>T" "" "pathogenic (recessive)" "" "0001016878" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sims 1995:7846063}" "" "" "" "Germline" "" "" "0" "" "" "g.26191522C>T" "" "pathogenic (recessive)" "" "0001016879" "21" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sims 1995:7846063}" "" "" "" "Germline" "" "" "0" "" "" "g.26191522C>T" "" "pathogenic (recessive)" "" "0001016880" "11" "90" "2" "26427019" "26427019" "subst" "0" "00006" "HADHA_000027" "g.26427019G>A" "" "{PMID:Sims 1995:7846063}" "" "(Q342Stop)" "" "Germline" "" "" "0" "" "" "g.26204150G>A" "" "pathogenic (recessive)" "" "0001016881" "11" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Chen 2024:38379183}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001016882" "21" "90" "2" "26438017" "26438018" "dup" "0" "00006" "HADHA_000049" "g.26438017_26438018dup" "" "{PMID:Chen 2024:38379183}" "" "703_704dupCG" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.26215148_26215149dup" "" "pathogenic (recessive)" "ACMG" "0001016885" "1" "90" "2" "26461846" "26461846" "dup" "0" "00006" "HADHA_000103" "g.26461846dup" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26238978dup" "" "pathogenic (recessive)" "" "0001016886" "3" "90" "2" "26459762" "26459766" "del" "0" "00006" "HADHA_000099" "g.26459762_26459766del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26236894_26236898del" "" "pathogenic (recessive)" "" "0001016887" "1" "90" "2" "26459762" "26459766" "del" "0" "00006" "HADHA_000099" "g.26459762_26459766del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26236894_26236898del" "" "pathogenic (recessive)" "" "0001016888" "1" "90" "2" "26459762" "26459766" "del" "0" "00006" "HADHA_000099" "g.26459762_26459766del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26236894_26236898del" "" "pathogenic (recessive)" "" "0001016889" "1" "90" "2" "26459762" "26459766" "del" "0" "00006" "HADHA_000099" "g.26459762_26459766del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26236894_26236898del" "" "pathogenic (recessive)" "" "0001016890" "3" "90" "2" "26457096" "26457096" "subst" "0" "00006" "HADHA_000096" "g.26457096C>T" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26234228C>T" "" "pathogenic (recessive)" "" "0001016891" "3" "90" "2" "26453058" "26453058" "subst" "1.62438E-5" "00006" "HADHA_000091" "g.26453058A>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26230190A>G" "" "pathogenic (recessive)" "" "0001016892" "3" "90" "2" "26438018" "26438018" "subst" "0" "00006" "HADHA_000047" "g.26438018G>A" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26215149G>A" "" "pathogenic (recessive)" "" "0001016893" "3" "90" "2" "26438018" "26438018" "subst" "0" "00006" "HADHA_000047" "g.26438018G>A" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26215149G>A" "" "pathogenic (recessive)" "" "0001016894" "1" "90" "2" "26437316" "26437316" "subst" "8.13782E-6" "00006" "HADHA_000041" "g.26437316A>T" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26214447A>T" "" "pathogenic (recessive)" "" "0001016895" "1" "90" "2" "26437311" "26437311" "subst" "0" "00006" "HADHA_000089" "g.26437311C>T" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26214442C>T" "" "pathogenic (recessive)" "" "0001016896" "1" "90" "2" "26437306" "26437306" "subst" "0" "00006" "HADHA_000088" "g.26437306A>C" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26214437A>C" "" "pathogenic (recessive)" "" "0001016897" "1" "90" "2" "26432675" "26432676" "delins" "0" "00006" "HADHA_000086" "g.26432675_26432676delinsA" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26209806_26209807delinsA" "" "pathogenic (recessive)" "" "0001016898" "1" "90" "2" "26426956" "26426956" "subst" "0" "00006" "HADHA_000084" "g.26426956G>A" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26204087G>A" "" "pathogenic (recessive)" "" "0001016899" "1" "90" "2" "26424030" "26424030" "del" "0" "00006" "HADHA_000083" "g.26424030del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26201161del" "" "pathogenic (recessive)" "" "0001016900" "1" "90" "2" "26420607" "26420607" "subst" "0" "00006" "HADHA_000080" "g.26420607C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26197738C>G" "" "pathogenic (recessive)" "" "0001016901" "1" "90" "2" "26420606" "26420606" "subst" "0" "00006" "HADHA_000079" "g.26420606G>A" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26197737G>A" "" "pathogenic (recessive)" "" "0001016902" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016903" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016904" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016905" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016906" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016907" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016908" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016909" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016910" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016911" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016912" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016913" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016914" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016915" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016916" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016917" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016918" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016919" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016920" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016921" "1" "90" "2" "26418049" "26418049" "dup" "0" "00006" "HADHA_000078" "g.26418049dup" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195180dup" "" "pathogenic (recessive)" "" "0001016922" "1" "90" "2" "26417466" "26417468" "del" "0" "00006" "HADHA_000076" "g.26417466_26417468del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26194597_26194599del" "" "pathogenic (recessive)" "" "0001016923" "3" "90" "2" "26417450" "26417450" "subst" "2.03051E-5" "00006" "HADHA_000032" "g.26417450G>A" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26194581G>A" "" "pathogenic (recessive)" "" "0001016924" "1" "90" "2" "26415215" "26415215" "del" "0" "00006" "HADHA_000074" "g.26415215del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26192346del" "" "pathogenic (recessive)" "" "0001016925" "1" "90" "2" "26415215" "26415215" "del" "0" "00006" "HADHA_000074" "g.26415215del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26192346del" "" "pathogenic (recessive)" "" "0001016926" "1" "90" "2" "26415189" "26415207" "del" "0" "00006" "HADHA_000073" "g.26415189_26415207del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26192320_26192338del" "" "pathogenic (recessive)" "" "0001016927" "3" "90" "2" "26415188" "26415189" "del" "0" "00006" "HADHA_000072" "g.26415188_26415189del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26192319_26192320del" "" "pathogenic (recessive)" "" "0001016928" "1" "90" "2" "26414341" "26414353" "del" "0" "00006" "HADHA_000065" "g.26414341_26414353del" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26191472_26191484del" "" "pathogenic (recessive)" "" "0001016929" "1" "90" "2" "26414184" "26414187" "dup" "0" "00006" "HADHA_000064" "g.26414184_26414187dup" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26191315_26191318dup" "" "pathogenic (recessive)" "" "0001016937" "2" "90" "2" "26437316" "26437316" "subst" "8.13782E-6" "00006" "HADHA_000041" "g.26437316A>T" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26214447A>T" "" "pathogenic (recessive)" "" "0001016938" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016939" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016940" "2" "90" "2" "26414435" "26414435" "subst" "0" "00006" "HADHA_000067" "g.26414435C>T" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26191566C>T" "" "pathogenic (recessive)" "" "0001016941" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016942" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016943" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016944" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016945" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016946" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016947" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016948" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016949" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016950" "2" "90" "2" "26417450" "26417450" "subst" "2.03051E-5" "00006" "HADHA_000032" "g.26417450G>A" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26194581G>A" "" "pathogenic (recessive)" "" "0001016951" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016952" "2" "90" "2" "26414471" "26414471" "subst" "8.12724E-6" "00006" "HADHA_000069" "g.26414471C>T" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26191602C>T" "" "pathogenic (recessive)" "" "0001016953" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016954" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016955" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001016956" "2" "90" "2" "26502160" "26502160" "subst" "0" "00006" "HADHB_000026" "g.26502160A>G" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26279292A>G" "" "pathogenic (recessive)" "" "0001016957" "2" "90" "2" "26507792" "26507792" "subst" "0" "00006" "HADHA_000105" "g.26507792G>A" "" "{PMID:Boutron 2011:21549624}" "" "" "" "Germline" "" "" "0" "" "" "g.26284924G>A" "" "pathogenic (recessive)" "" "0001017112" "3" "90" "2" "26417437" "26417437" "subst" "0" "00006" "HADHA_000058" "g.26417437A>C" "" "{PMID:Kang 2018:29519241}" "" "" "" "Germline" "" "" "0" "" "" "g.26194568A>C" "" "pathogenic (recessive)" "" "0001017118" "3" "90" "2" "26416537" "26416538" "del" "3.24865E-5" "00006" "HADHA_000057" "g.26416537_26416538del" "" "{PMID:Kang 2018:29519241}" "" "1793_1974del (H598Rfs*33)" "" "Germline" "" "" "0" "" "" "g.26193668_26193669del" "" "pathogenic (recessive)" "" "0001017163" "3" "90" "2" "26437359" "26437359" "subst" "0" "00006" "HADHA_000042" "g.26437359G>A" "" "{PMID:Spiekerkoetter 2008:18485779}" "" "R256X" "" "Germline" "" "" "0" "" "" "g.26214490G>A" "" "pathogenic (recessive)" "" "0001017164" "3" "90" "2" "26453164" "26453164" "subst" "0" "00006" "HADHA_000050" "g.26453164T>C" "" "{PMID:Spiekerkoetter 2004:14630990}" "" "IVS6-2A>G" "" "Germline" "" "" "0" "" "" "g.26230296T>C" "" "pathogenic (recessive)" "" "0001017165" "1" "90" "2" "26415178" "26415178" "subst" "0" "00006" "HADHA_000051" "g.26415178C>T" "" "{PMID:Spiekerkoetter 2004:14630990}" "" "IVS18+1G>A" "" "Germline" "" "" "0" "" "" "g.26192309C>T" "" "pathogenic (recessive)" "" "0001017166" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Spiekerkoetter 2004:14630990}" "" "E474Q" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017167" "1" "90" "2" "26416536" "26416536" "subst" "0" "00006" "HADHA_000052" "g.26416536C>T" "" "{PMID:Spiekerkoetter 2004:14630990}" "" "V563M" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.26193667C>T" "" "pathogenic (recessive)" "" "0001017168" "0" "90" "2" "26414396" "26414396" "subst" "0" "00006" "HADHA_000053" "g.26414396T>C" "" "{PMID:Spiekerkoetter 2004:14630990}" "" "D665G" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.26191527T>C" "" "pathogenic (recessive)" "" "0001017169" "1" "90" "2" "26424176" "26424176" "subst" "0" "00006" "HADHA_000054" "g.26424176C>R" "" "{PMID:Spiekerkoetter 2004:14630990}" "" "V376L" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.26201307C>R" "" "pathogenic (recessive)" "" "0001017170" "1" "90" "2" "26462001" "26462001" "subst" "0" "00006" "HADHA_000055" "g.26462001G>T" "" "{PMID:Spiekerkoetter 2004:14630990}" "" "Y-13ter" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.26239133G>T" "" "pathogenic (recessive)" "" "0001017171" "21" "90" "2" "26457149" "26457149" "subst" "0" "00006" "HADHA_000056" "g.26457149A>G" "" "{PMID:Spiekerkoetter 2002:12442268}" "" "L94P" "" "Germline" "" "" "0" "" "" "g.26234281A>G" "" "pathogenic (recessive)" "" "0001017172" "21" "90" "2" "26457149" "26457149" "subst" "0" "00006" "HADHA_000056" "g.26457149A>G" "" "{PMID:Spiekerkoetter 2002:12442268}" "" "" "" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.26234281A>G" "" "pathogenic (recessive)" "" "0001017173" "21" "90" "2" "26416537" "26416538" "del" "3.24865E-5" "00006" "HADHA_000057" "g.26416537_26416538del" "" "{PMID:Spiekerkoetter 2002:12442268}" "" "1793-94delAT" "" "Germline" "" "" "0" "" "" "g.26193668_26193669del" "" "pathogenic (recessive)" "" "0001017174" "21" "90" "2" "26416537" "26416538" "del" "3.24865E-5" "00006" "HADHA_000057" "g.26416537_26416538del" "" "{PMID:Spiekerkoetter 2002:12442268}" "" "1793-94delAT" "" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.26193668_26193669del" "" "pathogenic (recessive)" "" "0001017175" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sperk 2010:20659813}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017176" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sperk 2010:20659813}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017177" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sperk 2010:20659813}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017178" "1" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sperk 2010:20659813}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017181" "2" "90" "2" "26461825" "26461825" "subst" "8.12374E-6" "00006" "HADHA_000102" "g.26461825G>A" "" "{PMID:Sperk 2010:20659813}" "" "" "" "Germline" "" "" "0" "" "" "g.26238957G>A" "" "pathogenic (recessive)" "" "0001017182" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017183" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017184" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017185" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017186" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017187" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017188" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017189" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017190" "3" "90" "2" "26453134" "26453134" "subst" "0" "00006" "HADHA_000092" "g.26453134A>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26230266A>G" "" "pathogenic (recessive)" "" "0001017191" "1" "90" "2" "26461797" "26461802" "delins" "0" "00006" "HADHA_000101" "g.26461797_26461802delinsAT" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26238929_26238934delinsAT" "" "pathogenic (recessive)" "" "0001017193" "1" "90" "2" "26461797" "26461800" "del" "0" "00006" "HADHA_000100" "g.26461797_26461800del" "" "{PMID:Grunert 2021:33638202}" "" "180+2_180+5delTATC" "" "Germline" "" "" "0" "" "" "g.26238929_26238932del" "" "pathogenic (recessive)" "" "0001017194" "1" "90" "2" "26418088" "26418088" "subst" "4.06161E-6" "00006" "HADHA_000059" "g.26418088T>C" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195219T>C" "" "pathogenic (recessive)" "" "0001017195" "1" "90" "2" "26459762" "26459766" "del" "0" "00006" "HADHA_000099" "g.26459762_26459766del" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26236894_26236898del" "" "pathogenic (recessive)" "" "0001017196" "1" "90" "2" "26438018" "26438018" "subst" "0" "00006" "HADHA_000047" "g.26438018G>A" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26215149G>A" "" "pathogenic (recessive)" "" "0001017197" "1" "90" "2" "26426956" "26426956" "subst" "0" "00006" "HADHA_000084" "g.26426956G>A" "" "{PMID:Grunert 2021:33638202}" "" "R363*" "" "Germline" "" "" "0" "" "" "g.26204087G>A" "" "pathogenic (recessive)" "" "0001017198" "1" "90" "2" "26416503" "26416503" "subst" "8.12196E-6" "00006" "HADHA_000075" "g.26416503G>C" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26193634G>C" "" "pathogenic (recessive)" "" "0001017199" "1" "90" "2" "26416503" "26416503" "subst" "8.12196E-6" "00006" "HADHA_000075" "g.26416503G>C" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26193634G>C" "" "pathogenic (recessive)" "" "0001017200" "1" "90" "2" "26416503" "26416503" "subst" "8.12196E-6" "00006" "HADHA_000075" "g.26416503G>C" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26193634G>C" "" "pathogenic (recessive)" "" "0001017201" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017202" "2" "90" "2" "26507038" "26507038" "subst" "2.03047E-5" "00006" "HADHA_000104" "g.26507038A>T" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26284170A>T" "" "pathogenic (recessive)" "" "0001017203" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017204" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017205" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017206" "2" "90" "2" "26435459" "26435459" "subst" "1.62479E-5" "00006" "HADHA_000030" "g.26435459C>T" "" "{PMID:Grunert 2021:33638202}" "" "995G>A" "" "Germline" "" "" "0" "" "" "g.26212590C>T" "" "pathogenic (recessive)" "" "0001017207" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017208" "2" "90" "2" "26414130" "26414130" "subst" "0" "00006" "HADHA_000028" "g.26414130A>C" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26191261A>C" "" "pathogenic (recessive)" "" "0001017209" "2" "90" "2" "26414130" "26414130" "subst" "0" "00006" "HADHA_000028" "g.26414130A>C" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26191261A>C" "" "pathogenic (recessive)" "" "0001017210" "2" "90" "2" "26414130" "26414130" "subst" "0" "00006" "HADHA_000028" "g.26414130A>C" "" "{PMID:Grunert 2021:33638202}" "" "" "" "Germline" "" "" "0" "" "" "g.26191261A>C" "" "pathogenic (recessive)" "" "0001017211" "3" "90" "2" "26417437" "26417437" "subst" "0" "00006" "HADHA_000058" "g.26417437A>C" "" "{PMID:Choi 2007:17143551}" "" "" "" "Germline" "" "" "0" "" "" "g.26194568A>C" "" "pathogenic (recessive)" "" "0001017212" "3" "90" "2" "26417437" "26417437" "subst" "0" "00006" "HADHA_000058" "g.26417437A>C" "" "{PMID:Choi 2007:17143551}" "" "" "" "Germline" "" "" "0" "" "" "g.26194568A>C" "" "pathogenic (recessive)" "" "0001017217" "3" "90" "2" "26438018" "26438018" "subst" "0" "00006" "HADHA_000047" "g.26438018G>A" "" "{PMID:Scheuerman 2009:19433283}" "" "" "" "Germline" "" "" "0" "" "" "g.26215149G>A" "" "pathogenic (recessive)" "" "0001017238" "1" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017239" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017240" "3" "90" "2" "26414471" "26414471" "subst" "8.12724E-6" "00006" "HADHA_000070" "g.26414471C>A" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.26191602C>A" "" "pathogenic (recessive)" "" "0001017241" "1" "90" "2" "26455045" "26455045" "subst" "0" "00006" "HADHA_000093" "g.26455045G>C" "" "{PMID:Diekman 2014:24305961}" "" "546C>G" "" "Germline" "" "" "0" "" "" "g.26232177G>C" "" "pathogenic (recessive)" "" "0001017242" "1" "90" "2" "26455045" "26455045" "subst" "0" "00006" "HADHA_000093" "g.26455045G>C" "" "{PMID:Diekman 2014:24305961}" "" "546C>G" "" "Germline" "" "" "0" "" "" "g.26232177G>C" "" "pathogenic (recessive)" "" "0001017246" "2" "90" "2" "26416619" "26416619" "subst" "0" "00006" "HADHA_000060" "g.26416619A>G" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.26193750A>G" "" "pathogenic (recessive)" "" "0001017247" "2" "90" "2" "26420646" "26424074" "del" "0" "00006" "HADHA_000081" "g.26420646_26424074del" "" "{PMID:Diekman 2014:24305961}" "" "1336-1393del57nt" "" "Germline" "" "" "0" "" "" "g.26197777_26201205del" "" "pathogenic (recessive)" "" "0001017248" "2" "90" "2" "26420646" "26424074" "del" "0" "00006" "HADHA_000081" "g.26420646_26424074del" "" "{PMID:Diekman 2014:24305961}" "" "1336-1393del57nt" "" "Germline" "" "" "0" "" "" "g.26197777_26201205del" "" "pathogenic (recessive)" "" "0001017281" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:De Biase 2017:27117294}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017282" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:De Biase 2017:27117294}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017283" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:De Biase 2017:27117294}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017284" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:De Biase 2017:27117294}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017285" "1" "90" "2" "26432709" "26432709" "subst" "0" "00006" "HADHA_000043" "g.26432709A>G" "" "{PMID:De Biase 2017:27117294}" "" "" "" "Germline" "" "" "0" "" "" "g.26209840A>G" "" "pathogenic (recessive)" "" "0001017286" "2" "90" "2" "26418088" "26418088" "subst" "4.06161E-6" "00006" "HADHA_000059" "g.26418088T>C" "" "{PMID:De Biase 2017:27117294}" "" "" "" "Germline" "" "" "0" "" "" "g.26195219T>C" "" "pathogenic (recessive)" "" "0001017291" "21" "90" "2" "26416619" "26416619" "subst" "0" "00006" "HADHA_000060" "g.26416619A>G" "" "{PMID:Bursle 2018:29124685}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26193750A>G" "" "pathogenic (recessive)" "" "0001017292" "11" "90" "2" "26457092" "26457092" "subst" "0" "00006" "HADHA_000061" "g.26457092C>A" "" "{PMID:Bursle 2018:29124685}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26234224C>A" "" "pathogenic (recessive)" "" "0001017294" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017295" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017296" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017297" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017298" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017299" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017300" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017301" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017302" "21" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017303" "10" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017304" "10" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017305" "10" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017306" "21" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017307" "21" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017308" "21" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017309" "21" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017310" "10" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017311" "10" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017312" "10" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Ibdah 1999:10352164}" "" "Glu474Gln" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017313" "10" "90" "2" "26461801" "26461801" "subst" "0" "00006" "HADHA_000045" "g.26461801C>T" "" "{PMID:Ibdah 1999:10352164}" "" "IVS3G+1A" "" "Germline" "" "" "0" "" "" "g.26238933C>T" "" "pathogenic (recessive)" "" "0001017314" "3" "90" "2" "26453164" "26453164" "subst" "0" "00006" "HADHA_000050" "g.26453164T>C" "" "{PMID:Ibdah 1999:10352164}" "" "IVS6A-2G" "" "Germline" "" "" "0" "" "" "g.26230296T>C" "" "pathogenic (recessive)" "" "0001017315" "21" "90" "2" "26414472" "26414472" "subst" "1.62546E-5" "00006" "HADHA_000071" "g.26414472G>A" "" "{PMID:Ibdah 1999:10352164}" "" "Arg640Cys" "" "Germline" "" "" "0" "" "" "g.26191603G>A" "" "pathogenic (recessive)" "" "0001017316" "3" "90" "2" "26437385" "26437385" "subst" "0" "00006" "HADHA_000040" "g.26437385A>T" "" "{PMID:Ibdah 1999:10352164}" "" "Val246Asp" "" "Germline" "" "" "0" "" "" "g.26214516A>T" "" "pathogenic (recessive)" "" "0001017317" "21" "90" "2" "26437316" "26437316" "subst" "8.13782E-6" "00006" "HADHA_000041" "g.26437316A>T" "" "{PMID:Ibdah 1999:10352164}" "" "Ile269Asn" "" "Germline" "" "" "0" "" "" "g.26214447A>T" "" "pathogenic (recessive)" "" "0001017318" "10" "90" "2" "26459762" "26459766" "del" "0" "00006" "HADHA_000099" "g.26459762_26459766del" "" "{PMID:Ibdah 1999:10352164}" "" "Asp67Ter (del271-275)" "" "Germline" "" "" "0" "" "" "g.26236894_26236898del" "" "pathogenic (recessive)" "" "0001017319" "21" "90" "2" "26459762" "26459766" "del" "0" "00006" "HADHA_000099" "g.26459762_26459766del" "" "{PMID:Ibdah 1999:10352164}" "" "Asp67Ter (del271-275)" "" "Germline" "" "" "0" "" "" "g.26236894_26236898del" "" "pathogenic (recessive)" "" "0001017320" "21" "90" "2" "26457225" "26457225" "subst" "4.06299E-6" "00006" "HADHA_000098" "g.26457225T>A" "" "{PMID:Ibdah 1999:10352164}" "" "IVS4A-2T" "" "Germline" "" "" "0" "" "" "g.26234357T>A" "" "pathogenic (recessive)" "" "0001017321" "21" "90" "2" "26455119" "26455122" "delins" "0" "00006" "HADHA_000094" "g.26455119_26455122delinsTATT" "" "{PMID:Ibdah 1999:10352164}" "" "Ala125Ter (TACC479-482AATA)" "" "Germline" "" "" "0" "" "" "g.26232251_26232254delinsTATT" "" "pathogenic (recessive)" "" "0001017322" "10" "90" "2" "26437359" "26437359" "subst" "0" "00006" "HADHA_000042" "g.26437359G>A" "" "{PMID:Ibdah 1999:10352164}" "" "Arg255Ter" "" "Germline" "" "" "0" "" "" "g.26214490G>A" "" "pathogenic (recessive)" "" "0001017323" "10" "90" "2" "26427019" "26427019" "subst" "0" "00006" "HADHA_000027" "g.26427019G>A" "" "{PMID:Ibdah 1999:10352164}" "" "Gln342Ter" "" "Germline" "" "" "0" "" "" "g.26204150G>A" "" "pathogenic (recessive)" "" "0001017324" "10" "90" "2" "26427060" "26427066" "del" "0" "00006" "HADHA_000085" "g.26427060_26427066del" "" "{PMID:Ibdah 1999:10352164}" "" "del-4-091" "" "Germline" "" "" "0" "" "" "g.26204191_26204197del" "" "pathogenic (recessive)" "" "0001017325" "10" "90" "2" "26417960" "26417964" "del" "0" "00006" "HADHA_000062" "g.26417960_26417964del" "" "{PMID:Ibdah 1999:10352164}" "" "del1617-+1" "" "Germline" "" "" "0" "" "" "g.26195091_26195095del" "" "pathogenic (recessive)" "" "0001017326" "21" "90" "2" "26417450" "26417450" "subst" "2.03051E-5" "00006" "HADHA_000032" "g.26417450G>A" "" "{PMID:Ibdah 1999:10352164}" "" "Arg524Ter" "" "Germline" "" "" "0" "" "" "g.26194581G>A" "" "pathogenic (recessive)" "" "0001017327" "21" "90" "2" "26415215" "26415215" "del" "0" "00006" "HADHA_000074" "g.26415215del" "" "{PMID:Ibdah 1999:10352164}" "" "Leu620Ter(delT1964)" "" "Germline" "" "" "0" "" "" "g.26192346del" "" "pathogenic (recessive)" "" "0001017328" "21" "90" "2" "26461799" "26461799" "subst" "4.8744E-5" "00006" "HADHA_000046" "g.26461799T>C" "" "{PMID:Ibdah 1999:10352164}" "" "IVS3A+3G" "" "Germline" "" "" "0" "" "" "g.26238931T>C" "" "pathogenic (recessive)" "" "0001017329" "10" "90" "2" "26414471" "26414471" "subst" "8.12724E-6" "00006" "HADHA_000069" "g.26414471C>T" "" "{PMID:Ibdah 1999:10352164}" "" "Arg640His" "" "Germline" "" "" "0" "" "" "g.26191602C>T" "" "pathogenic (recessive)" "" "0001017330" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Hintz 2002:11855930}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017331" "3" "90" "2" "26416537" "26416538" "del" "3.24865E-5" "00006" "HADHA_000057" "g.26416537_26416538del" "" "{PMID:Hintz 2002:11855930}" "" "" "" "Germline" "" "" "0" "" "" "g.26193668_26193669del" "" "pathogenic (recessive)" "" "0001017333" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Gillingham 2005:16040264}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017334" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Gillingham 2005:16040264}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017335" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Gillingham 2005:16040264}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017336" "1" "90" "2" "26461799" "26461799" "subst" "4.8744E-5" "00006" "HADHA_000046" "g.26461799T>C" "" "{PMID:Diebold 2019:30682426}" "" "" "" "Germline" "" "" "0" "" "" "g.26238931T>C" "" "pathogenic (recessive)" "" "0001017337" "1" "70" "2" "26457084" "26457084" "subst" "0" "00006" "HADHA_000095" "g.26457084C>A" "" "{PMID:Diebold 2019:30682426}" "" "" "" "Germline" "" "" "0" "" "" "g.26234216C>A" "" "likely pathogenic (recessive)" "" "0001017339" "1" "90" "2" "26437372" "26437372" "del" "0" "00006" "HADHA_000090" "g.26437372del" "" "{PMID:Diebold 2019:30682426}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26214503del" "" "pathogenic (recessive)" "" "0001017340" "1" "90" "2" "26418021" "26418022" "del" "0" "00006" "HADHA_000077" "g.26418021_26418022del" "" "{PMID:Diebold 2019:30682426}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26195152_26195153del" "" "pathogenic (recessive)" "" "0001017341" "1" "90" "2" "26414439" "26414439" "del" "0" "00006" "HADHA_000068" "g.26414439del" "" "{PMID:Diebold 2019:30682426}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26191570del" "" "pathogenic (recessive)" "" "0001017342" "1" "90" "2" "26461797" "26461802" "delins" "0" "00006" "HADHA_000101" "g.26461797_26461802delinsAT" "" "{PMID:Diebold 2019:30682426}" "" "180_180+5delGGTATCinsAT" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26238929_26238934delinsAT" "" "pathogenic (recessive)" "" "0001017343" "1" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Diebold 2019:30682426}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017344" "1" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Diebold 2019:30682426}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017345" "1" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Diebold 2019:30682426}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017348" "2" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Diebold 2019:30682426}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017349" "2" "50" "2" "26435459" "26435459" "subst" "1.62479E-5" "00006" "HADHA_000030" "g.26435459C>T" "" "{PMID:Diebold 2019:30682426}" "" "" "" "Germline" "" "" "0" "" "" "g.26212590C>T" "" "VUS" "" "0001017350" "1" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Knowles 2019:28301411}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017351" "1" "90" "2" "26424017" "26424017" "subst" "0" "00006" "HADHA_000082" "g.26424017C>T" "" "{PMID:Bo 2017:28515471}" "" "" "" "Germline" "" "" "0" "" "" "g.26201148C>T" "" "pathogenic (recessive)" "" "0001017352" "1" "90" "2" "26457177" "26457177" "subst" "4.06174E-6" "00006" "HADHA_000097" "g.26457177G>A" "" "{PMID:Bo 2017:28515471}" "" "" "" "Germline" "" "" "0" "" "" "g.26234309G>A" "" "pathogenic (recessive)" "" "0001017353" "1" "90" "2" "26461825" "26461825" "subst" "8.12374E-6" "00006" "HADHA_000102" "g.26461825G>A" "" "{PMID:Bo 2017:28515471}" "" "" "" "Germline" "" "" "0" "" "" "g.26238957G>A" "" "pathogenic (recessive)" "" "0001017355" "2" "90" "2" "26417437" "26417437" "subst" "0" "00006" "HADHA_000058" "g.26417437A>C" "" "{PMID:Bo 2017:28515471}" "" "" "" "Germline" "" "" "0" "" "" "g.26194568A>C" "" "pathogenic (recessive)" "" "0001017356" "2" "90" "2" "26417437" "26417437" "subst" "0" "00006" "HADHA_000058" "g.26417437A>C" "" "{PMID:Bo 2017:28515471}" "" "" "" "Germline" "" "" "0" "" "" "g.26194568A>C" "" "pathogenic (recessive)" "" "0001017357" "2" "90" "2" "26456748" "26471723" "del" "0" "00006" "HADHA_000063" "g.26456748_26471723del" "" "{PMID:Bo 2017:28515471}" "" "hg38" "" "Germline" "" "" "0" "" "" "g.26233880_26248855del" "" "pathogenic (recessive)" "" "0001017364" "1" "90" "2" "26435497" "26435497" "subst" "4.06306E-5" "00006" "HADHA_000087" "g.26435497T>C" "" "{PMID:Vieira Neto 2024:39088276}" "" "" "" "Germline" "" "" "0" "" "" "g.26212628T>C" "" "pathogenic (recessive)" "" "0001017365" "1" "90" "2" "26414351" "26414351" "subst" "0" "00006" "HADHA_000066" "g.26414351C>T" "" "{PMID:Vieira Neto 2024:39088276}" "" "" "" "Germline" "" "" "0" "" "" "g.26191482C>T" "" "pathogenic (recessive)" "" "0001017366" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Vieira Neto 2024:39088276}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017367" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Vieira Neto 2024:39088276}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017368" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Vieira Neto 2024:39088276}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017639" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sander 2005:15896654}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017640" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sander 2005:15896654}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017641" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sander 2005:15896654}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017642" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sander 2005:15896654}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001017643" "3" "90" "2" "26418053" "26418053" "subst" "0.00126711" "00006" "HADHA_000005" "g.26418053C>G" "" "{PMID:Sander 2005:15896654}" "" "" "" "Germline" "" "" "0" "" "" "g.26195184C>G" "" "pathogenic (recessive)" "" "0001033228" "0" "50" "2" "26424085" "26424085" "subst" "8.12486E-6" "01804" "HADHA_000029" "g.26424085T>A" "" "" "" "HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033229" "0" "50" "2" "26457222" "26457222" "subst" "1.62506E-5" "01804" "HADHA_000016" "g.26457222T>C" "" "" "" "HADHA(NM_000182.5):c.316A>G (p.(Met106Val), p.M106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HADHA ## Count = 298 "{{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}}" "0000000854" "00000183" "50" "1072" "0" "1072" "0" "c.1072C>A" "r.(?)" "p.(Gln358Lys)" "" "0000000856" "00000183" "50" "1072" "0" "1072" "0" "c.1072C>A" "r.(?)" "p.(Gln358Lys)" "" "0000000857" "00000183" "50" "1072" "0" "1072" "0" "c.1072C>A" "r.(?)" "p.(Gln358Lys)" "" "0000000858" "00000183" "50" "1072" "0" "1072" "0" "c.1072C>A" "r.(?)" "p.(Gln358Lys)" "" "0000040326" "00000183" "30" "414" "0" "414" "0" "c.414G>A" "r.(=)" "p.(=)" "4" "0000281223" "00000183" "30" "-1" "0" "-1" "0" "c.-1G>T" "r.(?)" "p.(=)" "" "0000405766" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0000405769" "00000183" "90" "1915" "0" "1918" "0" "c.1915_1918del" "r.(?)" "p.(Tyr639Argfs*4)" "" "0000515464" "00000183" "30" "6109" "0" "6109" "0" "c.*3817C>T" "r.(=)" "p.(=)" "" "0000515466" "00000183" "50" "5413" "0" "5413" "0" "c.*3121G>A" "r.(=)" "p.(=)" "" "0000515467" "00000183" "50" "2176" "0" "2176" "0" "c.2176G>A" "r.(?)" "p.(Ala726Thr)" "" "0000515468" "00000183" "50" "2120" "0" "2120" "0" "c.2120G>T" "r.(?)" "p.(Gly707Val)" "" "0000515469" "00000183" "30" "2112" "0" "2112" "0" "c.2112C>T" "r.(?)" "p.(Ala704=)" "" "0000515470" "00000183" "30" "1981" "0" "1981" "0" "c.1981C>T" "r.(?)" "p.(Leu661=)" "" "0000515471" "00000183" "30" "1961" "0" "1961" "0" "c.1961G>A" "r.(?)" "p.(Ser654Asn)" "" "0000515473" "00000183" "30" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Ala392Thr)" "" "0000515474" "00000183" "50" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Met106Val)" "" "0000607862" "00000183" "30" "1912" "0" "1912" "0" "c.1912A>G" "r.(?)" "p.(Ile638Val)" "" "0000607863" "00000183" "30" "1392" "8" "1392" "8" "c.1392+8A>C" "r.(=)" "p.(=)" "" "0000607864" "00000183" "30" "1212" "0" "1212" "0" "c.1212G>C" "r.(?)" "p.(Val404=)" "" "0000607865" "00000183" "50" "652" "0" "652" "0" "c.652G>C" "r.(?)" "p.(Val218Leu)" "" "0000621011" "00000183" "30" "1620" "9" "1620" "9" "c.1620+9C>G" "r.(=)" "p.(=)" "" "0000621012" "00000183" "50" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Ala377Thr)" "" "0000650531" "00000183" "50" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Val705Ile)" "" "0000650532" "00000183" "50" "1465" "0" "1465" "0" "c.1465A>G" "r.(?)" "p.(Lys489Glu)" "" "0000676599" "00000183" "50" "1343" "0" "1343" "0" "c.1343T>C" "r.(?)" "p.(Val448Ala)" "" "0000718704" "00000183" "30" "1212" "0" "1212" "0" "c.1212G>C" "r.(?)" "p.(Val404=)" "" "0000718705" "00000183" "50" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Gly226Glu)" "" "0000733233" "00000183" "70" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0000733650" "00000183" "70" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "" "0000764187" "00000183" "70" "2281" "0" "2281" "0" "c.2281T>G" "r.(?)" "p.(Phe761Val)" "" "0000800543" "00000183" "50" "1325" "0" "1325" "0" "c.1325A>T" "r.(?)" "p.(Asp442Val)" "" "0000828483" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0000834716" "00000183" "90" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Gly319Ser)" "" "0000834717" "00000183" "90" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Gly319Ser)" "" "0000849835" "00000183" "30" "68" "-10" "68" "-10" "c.68-10T>G" "r.(=)" "p.(=)" "" "0000858469" "00000183" "50" "1325" "0" "1325" "0" "c.1325A>T" "r.(?)" "p.(Asp442Val)" "" "0000885106" "00000183" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560*)" "" "0000911667" "00000183" "10" "2146" "16" "2146" "16" "c.2146+16T>C" "r.(=)" "p.(=)" "" "0000911668" "00000183" "30" "1690" "-6" "1690" "-6" "c.1690-6G>A" "r.(=)" "p.(=)" "" "0000911669" "00000183" "10" "1620" "11" "1620" "11" "c.1620+11G>C" "r.(=)" "p.(=)" "" "0000957929" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0000958272" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0000975175" "00000183" "50" "2033" "0" "2033" "0" "c.2033T>C" "r.(?)" "p.(Val678Ala)" "" "0000975176" "00000183" "30" "109" "4" "109" "4" "c.109+4A>C" "r.spl?" "p.?" "" "0000988454" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>A" "r.(?)" "p.(Glu510Lys)" "" "0001007265" "00000183" "70" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001007385" "00000183" "90" "1915" "0" "1918" "0" "c.1915_1918del" "r.(?)" "p.(Tyr639ArgfsTer4)" "18" "0001016836" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.1528g>c" "p.Glu510Gln" "" "0001016837" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016838" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016839" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016840" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016841" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016842" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016843" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016844" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016845" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016846" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016847" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016848" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016849" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016850" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016851" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016852" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016853" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016854" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016855" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016856" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016857" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016858" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016859" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016860" "00000183" "90" "845" "0" "845" "0" "c.845T>A" "r.845u>a" "p.Val282Asp" "" "0001016861" "00000183" "90" "914" "0" "914" "0" "c.914T>A" "r.914u>a" "p.Ile305Asn" "" "0001016862" "00000183" "90" "871" "0" "871" "0" "c.871C>T" "r.0" "p.0" "" "0001016863" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.1528g>c" "p.Glu510Gln" "" "0001016864" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016865" "00000183" "90" "1025" "0" "1025" "0" "c.1025T>C" "r.(?)" "p.(Leu342Pro)" "" "0001016866" "00000183" "90" "2128" "0" "2129" "0" "c.2128_2129insC" "r.(?)" "p.(Phe710Serfs*28)" "" "0001016867" "00000183" "90" "180" "1" "180" "1" "c.180+1G>A" "r.110_180del" "p.Thr37SerfsTer2" "" "0001016868" "00000183" "90" "180" "3" "180" "3" "c.180+3A>G" "r.110_180del" "p.Thr37SerfsTer2" "" "0001016869" "00000183" "90" "180" "3" "180" "3" "c.180+3A>G" "r.spl" "p.?" "" "0001016870" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016871" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.1528g>c" "p.Glu510Gln" "" "0001016872" "00000183" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.1678c>u" "p.Arg560*" "" "0001016873" "00000183" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Trp)" "" "0001016874" "00000183" "90" "2107" "0" "2107" "0" "c.2107G>A" "r.(?)" "p.(Gly703Arg)" "" "0001016875" "00000183" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Trp)" "" "0001016876" "00000183" "90" "2107" "0" "2107" "0" "c.2107G>A" "r.(?)" "p.(Gly703Arg)" "" "0001016877" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016878" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016879" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016880" "00000183" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "" "0001016881" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016882" "00000183" "90" "703" "0" "704" "0" "c.703_704dup" "r.(?)" "p.(Thr236Glyfs*3)" "" "0001016885" "00000183" "90" "138" "0" "138" "0" "c.138dup" "r.(?)" "p.(Gly47ArgfsTer9)" "" "0001016886" "00000183" "90" "274" "0" "278" "0" "c.274_278del" "r.(?)" "p.(Ser92LysfsTer10)" "" "0001016887" "00000183" "90" "274" "0" "278" "0" "c.274_278del" "r.(?)" "p.(Ser92LysfsTer10)" "" "0001016888" "00000183" "90" "274" "0" "278" "0" "c.274_278del" "r.(?)" "p.(Ser92LysfsTer10)" "" "0001016889" "00000183" "90" "274" "0" "278" "0" "c.274_278del" "r.(?)" "p.(Ser92LysfsTer10)" "" "0001016890" "00000183" "90" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Gly148Arg)" "" "0001016891" "00000183" "90" "676" "2" "676" "2" "c.676+2T>C" "r.[574_676del,=]" "p.[Val192AspfsTer4,=]" "" "0001016892" "00000183" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Trp)" "" "0001016893" "00000183" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Trp)" "" "0001016894" "00000183" "90" "914" "0" "914" "0" "c.914T>A" "r.(?)" "p.(Ile305Asn)" "" "0001016895" "00000183" "90" "918" "1" "918" "1" "c.918+1G>A" "r.800_918del" "p.Lys267SerfsTer7" "" "0001016896" "00000183" "90" "918" "6" "918" "6" "c.918+6T>G" "r.800_918del" "p.Lys267SerfsTer7" "" "0001016897" "00000183" "90" "1058" "0" "1059" "0" "c.1058_1059delinsT" "r.(?)" "p.(Lys353IlefsTer19)" "" "0001016898" "00000183" "90" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399Ter)" "" "0001016899" "00000183" "90" "1381" "0" "1381" "0" "c.1381del" "r.(?)" "p.(Glu461LysfsTer2)" "" "0001016900" "00000183" "90" "1432" "0" "1432" "0" "c.1432G>C" "r.(?)" "p.(Ala478Pro)" "" "0001016901" "00000183" "90" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Ala478Val)" "" "0001016902" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016903" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016904" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016905" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016906" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016907" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016908" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016909" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016910" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016911" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016912" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016913" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016914" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016915" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016916" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016917" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016918" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016919" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016920" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016921" "00000183" "90" "1533" "0" "1533" "0" "c.1533dup" "r.(?)" "p.(Ile512TyrfsTer29)" "" "0001016922" "00000183" "90" "1663" "0" "1665" "0" "c.1663_1665del" "r.(?)" "p.(Met555del)" "" "0001016923" "00000183" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560Ter)" "" "0001016924" "00000183" "90" "1967" "0" "1967" "0" "c.1967del" "r.(?)" "p.(Leu656Ter)" "" "0001016925" "00000183" "90" "1967" "0" "1967" "0" "c.1967del" "r.(?)" "p.(Leu656Ter)" "" "0001016926" "00000183" "90" "1981" "0" "1999" "0" "c.1981_1999del" "r.(?)" "p.(Leu661SerfsTer12)" "" "0001016927" "00000183" "90" "1990" "0" "1991" "0" "c.1990_1991del" "r.(?)" "p.(Lys664ValfsTer2)" "" "0001016928" "00000183" "90" "2146" "6" "2146" "18" "c.2146+6_2146+18del" "r.2146_2147ins[guugg;2146+19_2147-1]" "p.Pro717TrpfsTer7" "" "0001016929" "00000183" "90" "2225" "0" "2228" "0" "c.2225_2228dup" "r.(?)" "p.(Phe744ThrfsTer10)" "" "0001016937" "00000183" "90" "914" "0" "914" "0" "c.914T>A" "r.(?)" "p.(Ile305Asn)" "" "0001016938" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016939" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016940" "00000183" "90" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Cys688Tyr)" "" "0001016941" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016942" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016943" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016944" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016945" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016946" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016947" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016948" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016949" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001016950" "00000183" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560Ter)" "" "0001016951" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "9" "0001016952" "00000183" "90" "2027" "0" "2027" "0" "c.2027G>A" "r.(?)" "p.(Arg676His)" "9" "0001016953" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "9" "0001016954" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "9" "0001016955" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "9" "0001016956" "00000183" "90" "788" "0" "788" "0" "c.788A>G" "r.(?)" "p.(Asp263Gly)" "9" "0001016957" "00000183" "90" "1191" "0" "1191" "0" "c.1191G>A" "r.(?)" "p.(Trp397Ter)" "9" "0001017112" "00000183" "90" "1689" "2" "1689" "2" "c.1689+2T>G" "r.(1621_1689del)" "p.(Asp541_Gln563del)" "" "0001017118" "00000183" "90" "1793" "0" "1794" "0" "c.1793_1794del" "r.(?)" "p.(His598ArgfsTer33)" "" "0001017163" "00000183" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291*)" "" "0001017164" "00000183" "90" "574" "-2" "574" "-2" "c.574-2A>G" "r.spl" "p.?" "6i" "0001017165" "00000183" "90" "2000" "1" "2000" "1" "c.2000+1G>A" "r.spl" "p.?" "18i" "0001017166" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017167" "00000183" "90" "1795" "0" "1795" "0" "c.1795G>A" "r.(?)" "p.(Val599Met)" "" "0001017168" "00000183" "90" "2102" "0" "2102" "0" "c.2102A>G" "r.(?)" "p.(Asp701Gly)" "" "0001017169" "00000183" "90" "1234" "0" "1234" "0" "c.1234G>Y" "r.(?)" "p.(Val412Leu)" "" "0001017170" "00000183" "90" "78" "0" "78" "0" "c.78C>A" "r.(?)" "p.(Cys26*)" "" "0001017171" "00000183" "90" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Leu130Pro)" "" "0001017172" "00000183" "90" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Leu130Pro)" "" "0001017173" "00000183" "90" "1793" "0" "1794" "0" "c.1793_1794del" "r.(?)" "p.(His598Argfs*33)" "" "0001017174" "00000183" "90" "1793" "0" "1794" "0" "c.1793_1794del" "r.(?)" "p.(His598Argfs*33)" "" "0001017175" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017176" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017177" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017178" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017181" "00000183" "90" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Ter)" "" "0001017182" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017183" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017184" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017185" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017186" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017187" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017188" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017189" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017190" "00000183" "90" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Met201Thr)" "" "0001017191" "00000183" "90" "180" "0" "180" "5" "c.180_180+5delinsAT" "r,spl" "p.?" "" "0001017193" "00000183" "90" "180" "3" "180" "6" "c.180+3_180+6del" "r.spl" "p.?" "" "0001017194" "00000183" "90" "1493" "0" "1493" "0" "c.1493A>G" "r.(?)" "p.(His498Arg)" "" "0001017195" "00000183" "90" "274" "0" "278" "0" "c.274_278del" "r.(?)" "p.(Ser92LysfsTer10)" "" "0001017196" "00000183" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Trp)" "" "0001017197" "00000183" "90" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399Ter)" "" "0001017198" "00000183" "90" "1828" "0" "1828" "0" "c.1828C>G" "r.(?)" "p.(Arg610Gly)" "" "0001017199" "00000183" "90" "1828" "0" "1828" "0" "c.1828C>G" "r.(?)" "p.(Arg610Gly)" "" "0001017200" "00000183" "90" "1828" "0" "1828" "0" "c.1828C>G" "r.(?)" "p.(Arg610Gly)" "" "0001017201" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017202" "00000183" "90" "1115" "0" "1115" "0" "c.1115A>T" "r.(?)" "p.(Asp372Val)" "" "0001017203" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017204" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017205" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017206" "00000183" "90" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Gly319Ser)" "" "0001017207" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017208" "00000183" "90" "2281" "0" "2281" "0" "c.2281T>G" "r.(?)" "p.(Phe761Val)" "" "0001017209" "00000183" "90" "2281" "0" "2281" "0" "c.2281T>G" "r.(?)" "p.(Phe761Val)" "" "0001017210" "00000183" "90" "2281" "0" "2281" "0" "c.2281T>G" "r.(?)" "p.(Phe761Val)" "" "0001017211" "00000183" "90" "1689" "2" "1689" "2" "c.1689+2T>G" "r.1621_1689del" "p.Asp541_Gln563del" "" "0001017212" "00000183" "90" "1689" "2" "1689" "2" "c.1689+2T>G" "r.1621_1689del" "p.Asp541_Gln563del" "" "0001017217" "00000183" "90" "703" "0" "703" "0" "c.703C>T" "r.703c>u" "p.Arg235Trp" "" "0001017238" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017239" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017240" "00000183" "90" "2027" "0" "2027" "0" "c.2027G>T" "r.(?)" "p.(Arg676Leu)" "" "0001017241" "00000183" "90" "556" "0" "556" "0" "c.556C>G" "r.(?)" "p.(Gln186Glu)" "" "0001017242" "00000183" "90" "556" "0" "556" "0" "c.556C>G" "r.(?)" "p.(Gln186Glu)" "" "0001017246" "00000183" "90" "1712" "0" "1712" "0" "c.1712T>C" "r.(?)" "p.(Leu571Pro)" "" "0001017247" "00000183" "90" "1336" "0" "1393" "0" "c.1336_1393del" "r.(?)" "p.(Glu446Ter)" "" "0001017248" "00000183" "90" "1336" "0" "1393" "0" "c.1336_1393del" "r.(?)" "p.(Glu446Ter)" "" "0001017281" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017282" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017283" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017284" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017285" "00000183" "90" "1025" "0" "1025" "0" "c.1025T>C" "r.(?)" "p.(Leu342Pro)" "" "0001017286" "00000183" "90" "1493" "0" "1493" "0" "c.1493A>G" "r.(?)" "p.(His498Arg)" "" "0001017291" "00000183" "90" "1712" "0" "1712" "0" "c.1712T>C" "r.(?)" "p.(Leu571Pro)" "" "0001017292" "00000183" "90" "446" "0" "446" "0" "c.446G>T" "r.(?)" "p.(Gly149Val)" "" "0001017294" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017295" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017296" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017297" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017298" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017299" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017300" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017301" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017302" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017303" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017304" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017305" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017306" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017307" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017308" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017309" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017310" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017311" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017312" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "15" "0001017313" "00000183" "90" "180" "1" "180" "1" "c.180+1G>A" "r.spl" "p.?" "3i" "0001017314" "00000183" "90" "574" "-2" "574" "-2" "c.574-2A>G" "r.spl" "p.?" "6i" "0001017315" "00000183" "90" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Arg676Cys)" "19" "0001017316" "00000183" "90" "845" "0" "845" "0" "c.845T>A" "r.(?)" "p.(Val282Asp)" "9" "0001017317" "00000183" "90" "914" "0" "914" "0" "c.914T>A" "r.(?)" "p.(Ile305Asn)" "9" "0001017318" "00000183" "90" "274" "0" "278" "0" "c.274_278del" "r.(?)" "p.(Ser92LysfsTer10)" "4" "0001017319" "00000183" "90" "274" "0" "278" "0" "c.274_278del" "r.(?)" "p.(Ser92LysfsTer10)" "4" "0001017320" "00000183" "90" "315" "-2" "315" "-2" "c.315-2A>T" "r.spl" "p.?" "4i" "0001017321" "00000183" "90" "479" "0" "482" "0" "c.479_482delinsAATA" "r.(?)" "p.(Ile160delinsLysTer)" "6" "0001017322" "00000183" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291Ter)" "9" "0001017323" "00000183" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378Ter)" "12" "0001017324" "00000183" "90" "1086" "-1" "1091" "0" "c.1086-1_1091del" "r.spl" "p.(His363LeufsTer7)" "12" "0001017325" "00000183" "90" "1620" "2" "1620" "6" "c.1620+2_1620+6del" "r.spl" "p.?" "15i" "0001017326" "00000183" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560Ter)" "16" "0001017327" "00000183" "90" "1967" "0" "1967" "0" "c.1967del" "r.(?)" "p.(Leu656Ter)" "18" "0001017328" "00000183" "90" "180" "3" "180" "3" "c.180+3A>G" "r.spl" "p.?" "3i" "0001017329" "00000183" "90" "2027" "0" "2027" "0" "c.2027G>A" "r.(?)" "p.(Arg676His)" "19" "0001017330" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017331" "00000183" "90" "1793" "0" "1794" "0" "c.1793_1794del" "r.(?)" "p.(His598Argfs*33)" "" "0001017333" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017334" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017335" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017336" "00000183" "90" "180" "3" "180" "3" "c.180+3A>G" "r.spl" "p.?" "" "0001017337" "00000183" "70" "453" "1" "453" "1" "c.453+1G>T" "r.spl" "p.?" "" "0001017339" "00000183" "90" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(Glu287LysfsTer16)" "" "0001017340" "00000183" "90" "1561" "0" "1562" "0" "c.1561_1562del" "r.(?)" "p.(Thr521GlnfsTer19)" "" "0001017341" "00000183" "90" "2059" "0" "2059" "0" "c.2059del" "r.(?)" "p.(Met687CysfsTer43)" "" "0001017342" "00000183" "90" "180" "0" "180" "5" "c.180_180+5delinsAT" "r.spl" "(p.(Val61CysfsTer6)" "" "0001017343" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017344" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017345" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017348" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017349" "00000183" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Gly319Ser)" "" "0001017350" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017351" "00000183" "90" "1392" "1" "1392" "1" "c.1392+1G>A" "r.spl" "p.?" "" "0001017352" "00000183" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121Ter)" "" "0001017353" "00000183" "90" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Ter)" "" "0001017355" "00000183" "90" "1689" "2" "1689" "2" "c.1689+2T>G" "r.spl" "p.?" "" "0001017356" "00000183" "90" "1689" "2" "1689" "2" "c.1689+2T>G" "r.spl" "p.?" "" "0001017357" "00000183" "90" "-4259" "0" "453" "337" "c.-4259_453+337del" "r.0?" "p.0?" "_1_5i" "0001017364" "00000183" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "" "0001017365" "00000183" "90" "2146" "1" "2146" "1" "c.2146+1G>A" "r.spl" "p.?" "" "0001017366" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017367" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017368" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017639" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017640" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017641" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017642" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001017643" "00000183" "90" "1528" "0" "1528" "0" "c.1528G>C" "r.(?)" "p.(Glu510Gln)" "" "0001033228" "00000183" "50" "1325" "0" "1325" "0" "c.1325A>T" "r.(?)" "p.(Asp442Val)" "" "0001033229" "00000183" "50" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Met106Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 268 "{{screeningid}}" "{{variantid}}" "0000000013" "0000000857" "0000000033" "0000000854" "0000000044" "0000000856" "0000000100" "0000000858" "0000019864" "0000040326" "0000181978" "0000405766" "0000181978" "0000405769" "0000293842" "0000650531" "0000293843" "0000650532" "0000335224" "0000733233" "0000335224" "0000733650" "0000363493" "0000764187" "0000396804" "0000828483" "0000401460" "0000834716" "0000401461" "0000834717" "0000448386" "0000957929" "0000448786" "0000958272" "0000453699" "0000988454" "0000455232" "0001007265" "0000455232" "0001007385" "0000459087" "0001016836" "0000459088" "0001016837" "0000459089" "0001016838" "0000459090" "0001016839" "0000459091" "0001016840" "0000459092" "0001016841" "0000459093" "0001016842" "0000459094" "0001016843" "0000459095" "0001016844" "0000459096" "0001016845" "0000459097" "0001016846" "0000459098" "0001016847" "0000459099" "0001016848" "0000459100" "0001016849" "0000459101" "0001016850" "0000459102" "0001016851" "0000459103" "0001016852" "0000459104" "0001016853" "0000459105" "0001016854" "0000459106" "0001016855" "0000459107" "0001016856" "0000459108" "0001016857" "0000459109" "0001016858" "0000459110" "0001016859" "0000459111" "0001016860" "0000459112" "0001016861" "0000459112" "0001016862" "0000459113" "0001016863" "0000459113" "0001016866" "0000459114" "0001016864" "0000459114" "0001016865" "0000459115" "0001016867" "0000459115" "0001016868" "0000459116" "0001016869" "0000459116" "0001016870" "0000459117" "0001016871" "0000459117" "0001016872" "0000459118" "0001016873" "0000459118" "0001016874" "0000459119" "0001016875" "0000459119" "0001016876" "0000459120" "0001016877" "0000459121" "0001016878" "0000459122" "0001016879" "0000459122" "0001016880" "0000459123" "0001016881" "0000459123" "0001016882" "0000459125" "0001016885" "0000459125" "0001016937" "0000459126" "0001016886" "0000459127" "0001016887" "0000459127" "0001016938" "0000459128" "0001016888" "0000459128" "0001016939" "0000459129" "0001016889" "0000459129" "0001016940" "0000459130" "0001016890" "0000459131" "0001016891" "0000459132" "0001016892" "0000459133" "0001016893" "0000459134" "0001016894" "0000459134" "0001016941" "0000459135" "0001016895" "0000459135" "0001016942" "0000459136" "0001016896" "0000459136" "0001016943" "0000459137" "0001016897" "0000459137" "0001016944" "0000459138" "0001016898" "0000459138" "0001016945" "0000459139" "0001016899" "0000459139" "0001016946" "0000459140" "0001016900" "0000459140" "0001016947" "0000459141" "0001016901" "0000459141" "0001016948" "0000459142" "0001016902" "0000459143" "0001016903" "0000459144" "0001016904" "0000459145" "0001016905" "0000459146" "0001016906" "0000459147" "0001016907" "0000459148" "0001016908" "0000459149" "0001016909" "0000459150" "0001016910" "0000459151" "0001016911" "0000459152" "0001016912" "0000459153" "0001016913" "0000459154" "0001016914" "0000459155" "0001016915" "0000459156" "0001016916" "0000459157" "0001016917" "0000459158" "0001016918" "0000459159" "0001016919" "0000459160" "0001016920" "0000459161" "0001016921" "0000459161" "0001016949" "0000459162" "0001016922" "0000459162" "0001016950" "0000459163" "0001016923" "0000459164" "0001016924" "0000459164" "0001016951" "0000459165" "0001016925" "0000459165" "0001016952" "0000459166" "0001016926" "0000459166" "0001016953" "0000459167" "0001016927" "0000459168" "0001016928" "0000459168" "0001016954" "0000459169" "0001016929" "0000459169" "0001016955" "0000459170" "0001016956" "0000459174" "0001016957" "0000459190" "0001017112" "0000459196" "0001017118" "0000459214" "0001017163" "0000459215" "0001017164" "0000459216" "0001017165" "0000459216" "0001017166" "0000459217" "0001017167" "0000459218" "0001017168" "0000459219" "0001017169" "0000459220" "0001017170" "0000459221" "0001017171" "0000459221" "0001017172" "0000459222" "0001017173" "0000459222" "0001017174" "0000459223" "0001017175" "0000459224" "0001017176" "0000459225" "0001017177" "0000459226" "0001017178" "0000459226" "0001017181" "0000459229" "0001017182" "0000459230" "0001017183" "0000459231" "0001017184" "0000459232" "0001017185" "0000459233" "0001017186" "0000459234" "0001017187" "0000459235" "0001017188" "0000459236" "0001017189" "0000459237" "0001017190" "0000459238" "0001017191" "0000459238" "0001017201" "0000459239" "0001017202" "0000459240" "0001017193" "0000459240" "0001017203" "0000459241" "0001017194" "0000459241" "0001017204" "0000459242" "0001017195" "0000459242" "0001017205" "0000459243" "0001017196" "0000459243" "0001017206" "0000459244" "0001017197" "0000459244" "0001017207" "0000459245" "0001017198" "0000459245" "0001017208" "0000459246" "0001017199" "0000459246" "0001017209" "0000459247" "0001017200" "0000459247" "0001017210" "0000459248" "0001017211" "0000459249" "0001017212" "0000459252" "0001017217" "0000459272" "0001017238" "0000459272" "0001017246" "0000459273" "0001017239" "0000459274" "0001017240" "0000459275" "0001017241" "0000459275" "0001017247" "0000459276" "0001017242" "0000459276" "0001017248" "0000459295" "0001017281" "0000459296" "0001017282" "0000459297" "0001017283" "0000459298" "0001017284" "0000459299" "0001017285" "0000459299" "0001017286" "0000459302" "0001017291" "0000459302" "0001017292" "0000459304" "0001017294" "0000459305" "0001017295" "0000459306" "0001017296" "0000459307" "0001017297" "0000459308" "0001017298" "0000459309" "0001017299" "0000459310" "0001017300" "0000459311" "0001017301" "0000459312" "0001017302" "0000459312" "0001017318" "0000459313" "0001017303" "0000459313" "0001017319" "0000459314" "0001017304" "0000459314" "0001017320" "0000459315" "0001017305" "0000459315" "0001017321" "0000459316" "0001017306" "0000459316" "0001017322" "0000459317" "0001017307" "0000459317" "0001017323" "0000459318" "0001017308" "0000459318" "0001017324" "0000459319" "0001017309" "0000459319" "0001017325" "0000459320" "0001017310" "0000459320" "0001017326" "0000459321" "0001017311" "0000459321" "0001017327" "0000459322" "0001017312" "0000459323" "0001017313" "0000459323" "0001017328" "0000459324" "0001017314" "0000459325" "0001017315" "0000459325" "0001017329" "0000459326" "0001017316" "0000459327" "0001017317" "0000459328" "0001017330" "0000459329" "0001017331" "0000459330" "0001017333" "0000459331" "0001017334" "0000459332" "0001017335" "0000459333" "0001017336" "0000459333" "0001017348" "0000459334" "0001017337" "0000459334" "0001017349" "0000459336" "0001017339" "0000459337" "0001017340" "0000459338" "0001017341" "0000459339" "0001017342" "0000459340" "0001017343" "0000459341" "0001017344" "0000459342" "0001017345" "0000459345" "0001017350" "0000459346" "0001017351" "0000459346" "0001017355" "0000459347" "0001017352" "0000459347" "0001017356" "0000459348" "0001017353" "0000459348" "0001017357" "0000459353" "0001017364" "0000459354" "0001017365" "0000459355" "0001017366" "0000459356" "0001017367" "0000459357" "0001017368" "0000459572" "0001017639" "0000459573" "0001017640" "0000459574" "0001017641" "0000459575" "0001017642" "0000459577" "0001017643"