### LOVD-version 3000-25c ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX6) # 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}}" "PEX6" "peroxisomal biogenesis factor 6" "6" "p22-p11" "unknown" "NG_008370.1" "UD_132085251456" "" "https://www.LOVD.nl/PEX6" "" "1" "8859" "5190" "601498" "1" "1" "1" "1" " This database is one of the dbPEX gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PEX6_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00001" "2006-05-05 00:00:00" "00006" "2020-09-10 16:27:15" "00006" "2021-01-21 10:49:27" ## 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}}" "00015987" "PEX6" "peroxisomal biogenesis factor 6" "001" "NM_000287.3" "" "NP_000278.3" "" "" "" "-93" "3405" "2943" "42946981" "42931611" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "03757" "PBD4A" "peroxisome biogenesis disorder, type 4A (PBD4A, Zellweger)" "AR" "614862" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-08 18:23:54" "03758" "PBD-4B" "peroxisome biogenesis disorder, type 4B (PBD-4B)" "" "614863" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-09-25 13:40:09" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2020-09-04 17:15:58" "05167" "HMLR1" "Heimler syndrome, type 1 (HMLR1)" "AR" "234580" "" "" "" "00008" "2016-05-25 15:33:09" "00006" "2020-09-09 15:56:18" "05236" "HMLR2" "syndrome, Heimler, type 2 (HMLR2)" "AR" "616617" "" "" "" "00006" "2017-03-17 10:18:32" "00006" "2020-09-08 18:23:23" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05667" "WS" "syndrome, Waardenburg (WS)" "" "" "" "" "" "00008" "2019-10-30 16:28:42" "00006" "2020-10-26 17:39:19" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PEX6" "03757" "PEX6" "03758" "PEX6" "05236" ## Individuals ## Do not remove or alter this header ## ## Count = 172 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00050127" "" "" "" "2" "00088" "article in revision at \"Human Mutation\"" "" "" "yes" "Egypt" "" "0" "" "" "" "" "00051496" "" "" "" "1" "01400" "F131" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00051497" "" "" "" "1" "01400" "F131" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00065273" "" "" "" "2" "01604" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" ">21y" "0" "" "" "" "Fam5PatII2" "00065274" "" "" "00065273" "1" "01604" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "F" "no" "United Kingdom (Great Britain)" ">16y" "0" "" "" "" "Fam5PatII3" "00065275" "" "" "" "2" "01604" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "2-generation family, twin sisters, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" ">21y" "0" "" "" "" "Fam6PatII1" "00065276" "" "" "00065275" "1" "01604" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "F" "no" "United Kingdom (Great Britain)" ">21y" "0" "" "" "" "Fam6PatII2" "00080829" "" "" "" "1" "01758" "Trujillano et al., submitted" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00208599" "" "" "" "3" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam301" "00282363" "" "" "" "1" "00004" "{PMID:Nobukuni 1996:8659547}, {PMID:Lalwani 1998:9856573}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283299" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00283301" "" "" "" "1" "00004" "{PMID:Xiong 2015:25525159}" "" "" "" "Japan" "" "0" "" "" "" "" "00283302" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00283305" "" "" "" "1" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat713" "00283306" "" "" "" "1" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat720" "00283307" "" "" "" "1" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat609" "00283308" "" "" "" "3" "02015" "{PMID:Raas-Rothschild 2002:11873320}" "2-generation family, 3 affected, parents and son; son" "M" "" "Israel" "" "0" "" "" "Algeria/Ashkenazi Jewish;Yemenite Jewish" "FamPatII1" "00283309" "" "" "" "1" "00004" "{PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283310" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00283311" "" "" "" "1" "02015" "{PMID:Zhang 1999:10408779}" "" "" "" "Japan" "" "0" "" "" "" "C-05" "00283312" "" "" "" "1" "02015" "{PMID:Zhang 1999:10408779}" "" "" "" "Japan" "" "0" "" "" "" "C-14" "00283313" "" "" "" "1" "00004" "{PMID:Yahraus 1996:8670792}" "" "" "" "" "" "0" "" "" "" "PBD106" "00283314" "" "" "" "1" "02015" "{PMID:Matsumoto 2001:11355018}" "" "" "" "Japan" "" "0" "" "" "" "PBD6-01" "00283317" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00283321" "" "" "" "1" "00006" "{PMID:Krause 2009:19142205}" "" "" "" "" "" "0" "" "" "" "" "00283323" "" "" "00283308" "1" "02015" "{PMID:Raas-Rothschild 2002:11873320}" "mother" "F" "" "Israel" "" "0" "" "" "Algeria/Ashkenazi Jewish" "PatII1m" "00283324" "" "" "" "1" "00006" "{PMID:Krause 2009:19142205}" "" "" "" "" "" "0" "" "" "" "" "00283332" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00283334" "" "" "" "1" "00004" "{PMID:Grunert 2014:24459294}" "" "" "" "" "" "0" "" "" "" "" "00283335" "" "" "00283308" "1" "02015" "{PMID:Raas-Rothschild 2002:11873320}" "father" "M" "" "Israel" "" "0" "" "" "Yemenite Jewish" "PatII1f" "00283338" "" "" "" "1" "02015" "{PMID:Zhang 1999:10408779}" "" "" "" "Japan" "" "0" "" "" "" "C-03" "00283339" "" "" "" "1" "00004" "{PMID:Najmabadi 2011:21937992}" "" "" "" "" "" "0" "" "" "" "" "00283346" "" "" "" "1" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283348" "" "" "" "1" "02015" "{PMID:Zhang 1999:10408779}" "" "" "" "Japan" "" "0" "" "" "" "C-10" "00283351" "" "" "" "1" "00004" "{PMID:Fukuda 1996:8940266}" "" "F" "" "Japan" "" "0" "" "" "" "Pat2" "00283352" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283353" "" "" "" "1" "00004" "{PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283354" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00283355" "" "" "" "1" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat710" "00283356" "" "" "" "1" "02015" "{PMID:Zhang 1999:10408779}" "" "" "" "Japan" "" "0" "" "" "" "C-09" "00283361" "" "" "" "1" "02015" "{PMID:Zhang 1999:10408779}" "" "" "" "Japan" "" "0" "" "" "" "C-15" "00283362" "" "" "" "1" "00004" "{PMID:Matsumoto 2001:11355018}, {PMID:Levesque 2012:22894767}" "" "" "" "" "" "0" "" "" "" "" "00283363" "" "" "" "1" "02015" "{PMID:Zhang 1999:10408779}" "" "" "" "Japan" "" "0" "" "" "" "C-07" "00283364" "" "" "" "1" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00283365" "" "" "" "1" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283367" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00283368" "" "" "" "1" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00283372" "" "" "" "1" "00004" "{PMID:Al-Gazali 2010:20437613}" "" "" "" "" "" "0" "" "" "" "" "00283374" "" "" "" "1" "02015" "{PMID:Zhang 1999:10408779}" "" "" "" "Japan" "" "0" "" "" "" "C-02" "00283376" "" "" "" "1" "02015" "{PMID:Fukuda 1996:8940266}" "" "" "yes" "Japan" "" "0" "" "" "" "Pat1/GM04340" "00283377" "" "" "" "1" "00004" "{PMID:Grunert 2014:24459294}" "" "" "" "" "" "0" "" "" "" "" "00283378" "" "" "" "1" "02015" "{PMID:Zhang 1999:10408779}" "" "" "" "Japan" "" "0" "" "" "" "C-12" "00283379" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00283380" "" "" "" "1" "00006" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "controls" "00283381" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00283382" "" "" "" "1" "00004" "{PMID:Zhang 1999:10408779}" "" "" "" "Japan" "" "0" "" "" "" "C-13" "00283384" "" "" "" "1" "02015" "{PMID:Imamura 2000:11004248}" "" "" "" "Japan" "" "0" "" "" "" "C-11" "00283385" "" "" "" "1" "00004" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00283386" "" "" "" "1" "00006" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "controls" "00289433" "" "" "" "1" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00294108" "" "" "" "138" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294109" "" "" "" "1" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294110" "" "" "" "10" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305102" "" "" "" "2" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309298" "" "" "" "3" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00310099" "" "" "" "1" "00006" "{PMID:Konkolova 2015:26094004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "white" "patient" "00310104" "" "" "" "1" "00006" "{PMID:Falkenberg 2017:29220678}" "" "" "" "" "" "0" "" "" "" "Pat1" "00310105" "" "" "" "2" "00006" "{PMID:Falkenberg 2017:29220678}" "2-generation family, 1 affected, unaffected heterozygous carrier mother/half-brother" "" "" "" "" "0" "" "" "" "Pat2" "00310106" "" "" "" "1" "00006" "{PMID:Falkenberg 2017:29220678}" "" "" "" "" "" "0" "" "" "" "Pat3" "00310107" "" "" "" "1" "00006" "{PMID:Falkenberg 2017:29220678}" "" "" "" "" "" "0" "" "" "" "Pat4" "00310108" "" "" "" "1" "00006" "{PMID:Falkenberg 2017:29220678}" "" "" "" "" "" "0" "" "" "" "Pat5" "00310109" "" "" "" "1" "00006" "{PMID:Falkenberg 2017:29220678}" "" "" "" "" "" "0" "" "" "" "Pat6" "00310110" "" "" "" "1" "00006" "{PMID:Falkenberg 2017:29220678}" "" "" "" "" "" "0" "" "" "" "Pat7" "00310111" "" "" "" "1" "00006" "{PMID:Falkenberg 2017:29220678}" "mother Pat2" "F" "" "" "" "0" "" "" "" "Pat2m" "00310113" "" "" "" "1" "02015" "{PMID:Krause 2009:19142205}" "" "" "" "" "" "0" "" "" "" "" "00310114" "" "" "" "1" "02015" "{PMID:Krause 2009:19142205}" "" "" "" "" "" "0" "" "" "" "" "00310115" "" "" "" "1" "02015" "{PMID:Krause 2009:19142205}" "" "" "" "" "" "0" "" "" "" "" "00310116" "" "" "" "1" "02015" "{PMID:Krause 2009:19142205}" "" "" "" "" "" "0" "" "" "" "" "00310117" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310118" "" "" "" "1" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310120" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310121" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310122" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310123" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310124" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310127" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310129" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310130" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310131" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310132" "" "" "" "1" "02015" "" "" "" "" "" "" "0" "" "" "" "patient" "00310133" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310134" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310136" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310137" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310138" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310139" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "patient" "00310140" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310141" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310142" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310143" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310144" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310145" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310146" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "controls" "00310147" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "Pat666" "00310148" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "Pat718" "00310149" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "Pat636" "00310150" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "Pat675" "00310151" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "controls" "00310152" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "controls" "00310153" "" "" "" "1" "02015" "{PMID:Krause 2006:17041890}" "" "F" "" "Germany" "" "0" "" "" "" "PBD-HR4" "00310154" "" "" "" "1" "02015" "{PMID:Krause 2006:17041890}" "" "M" "" "Romania" "" "0" "" "" "" "PBD-HR5" "00310155" "" "" "" "1" "00006" "{PMID:Krause 2009:19142205}" "" "" "" "" "" "0" "" "" "" "" "00310156" "" "" "" "1" "02015" "{PMID:Krause 2006:17041890}" "" "F" "" "Turkey" "" "0" "" "" "" "PBD-HR6" "00310157" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310158" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310159" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310160" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310161" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310162" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310163" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310164" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310165" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310166" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310167" "" "" "" "2" "02015" "{PMID:Ebberink 2010:19877282}" "2 cases" "" "" "" "" "0" "" "" "" "" "00310168" "" "" "" "2" "02015" "{PMID:Ebberink 2010:19877282}" "2 cases" "" "" "" "" "0" "" "" "" "" "00310169" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310170" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310171" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310172" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310173" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310174" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310175" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310176" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310177" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310178" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310179" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310180" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310181" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310182" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310183" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310184" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310185" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310186" "" "" "" "1" "02015" "{PMID:Ebberink 2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310187" "" "" "" "2" "02015" "{PMID:Ebberink 2010:19877282}" "2 patients" "" "" "" "" "0" "" "" "" "" "00310188" 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2010:19877282}" "" "" "" "" "" "0" "" "" "" "" "00310205" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310206" "" "" "" "1" "02015" "" "" "" "" "United States" "" "0" "" "" "" "" "00310636" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat672" "00310644" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat704" "00310645" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat636" "00310655" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310656" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310657" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310658" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310659" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310660" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310661" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310662" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310663" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310664" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310665" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00327400" "" "" "" "1" "03980" "Doucette 2021, submitted" "single child to unaffected parents (father was unavailable for examination)" "M" "yes" "Canada" "" "0" "Yes" "" "Middle Eastern" "M73 II-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 171 "{{individualid}}" "{{diseaseid}}" "00050127" "05079" "00051496" "03758" "00051497" "03758" "00065273" "05167" "00065274" "05167" "00065275" "05167" "00065276" "05167" "00080829" "03757" "00208599" "05489" "00282363" "05667" "00283299" "05079" "00283301" "05079" "00283302" "05079" "00283305" "05079" "00283306" "05079" "00283307" "05079" "00283308" "05079" "00283309" "05079" "00283310" "05079" "00283311" "05079" "00283312" "05079" "00283313" "05079" "00283314" "05079" "00283317" "05079" "00283321" "05079" "00283323" "05079" "00283324" "05079" "00283332" "05079" "00283334" "00198" "00283335" "05079" "00283338" "05079" "00283339" "05079" "00283346" "05079" "00283348" "05079" "00283351" "05079" "00283352" "05079" "00283353" "05079" "00283354" "05079" "00283355" "05079" "00283356" "05079" "00283361" "05079" "00283362" "00198" "00283363" "05079" "00283364" "05079" "00283367" "05079" "00283372" "05079" "00283374" "05079" "00283376" "05079" "00283377" "00198" "00283378" "05079" "00283379" "05079" "00283380" "00000" "00283381" "05079" "00283382" "05079" "00283384" "05079" "00283385" "05079" "00283386" "00000" "00289433" "00198" "00294108" "00198" "00294109" "00198" "00294110" "00198" "00305102" "00198" "00309298" "04214" "00310099" "05079" "00310104" "05079" "00310105" "05079" "00310106" "05079" "00310107" "05079" "00310108" "05079" "00310109" "05079" "00310110" "05079" "00310111" "00000" "00310113" "05079" "00310114" "05079" "00310115" "05079" "00310116" "05079" "00310117" "05079" "00310118" "05079" "00310120" "05079" "00310121" "05079" "00310122" "05079" "00310123" "05079" "00310124" "00000" "00310127" "05079" "00310129" "05079" "00310130" "05079" "00310131" "05079" "00310132" "05079" "00310133" "05079" "00310134" "05079" "00310136" "05079" "00310137" "05079" "00310138" "05079" "00310139" "05079" "00310140" "05079" "00310141" "05079" "00310142" "00000" "00310143" "00000" "00310144" "00000" "00310145" "05079" "00310146" "00000" "00310147" "05079" "00310148" "05079" "00310149" "05079" "00310150" "05079" "00310151" "00000" "00310152" "00000" "00310153" "05079" "00310154" "05079" "00310155" "05079" "00310156" "05079" "00310157" "05079" "00310158" "05079" "00310159" "05079" "00310160" "05079" "00310161" "05079" "00310162" "05079" "00310163" "05079" "00310164" "05079" "00310165" "05079" "00310166" "05079" "00310167" "05079" "00310168" "05079" "00310169" "05079" "00310170" "05079" "00310171" "05079" "00310172" "05079" "00310173" "05079" "00310174" "05079" "00310175" "05079" "00310176" "05079" "00310177" "05079" "00310178" "05079" "00310179" "05079" "00310180" "05079" "00310181" "05079" "00310182" "05079" "00310183" "05079" "00310184" "05079" "00310185" "05079" "00310186" "05079" "00310187" "05079" "00310188" "05079" "00310189" "05079" "00310190" "05079" "00310191" "05079" "00310192" "05079" "00310193" "05079" "00310194" "05079" "00310195" "05079" "00310196" "05079" "00310197" "05079" "00310198" "05079" "00310205" "05079" "00310206" "05079" "00310636" "05079" "00310644" "05079" "00310645" "05079" "00310655" "05079" "00310656" "05079" "00310657" "05079" "00310658" "05079" "00310659" "05079" "00310660" "05079" "00310661" "05079" "00310662" "05079" "00310663" "05079" "00310664" "05079" "00310665" "05079" "00327400" "05400" "00327400" "05412" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 03757, 03758, 04214, 05079, 05167, 05236, 05400, 05412, 05489, 05667 ## Count = 143 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038132" "03758" "00051496" "01400" "Unknown" "" "PBD-4B (Moderate)" "" "" "" "" "" "" "" "" "" "" "" "0000038133" "03758" "00051497" "01400" "Unknown" "" "PBD-4B (moderate)" "" "" "" "" "" "" "" "" "" "" "" "0000060398" "03757" "00080829" "01758" "Familial, autosomal recessive" "" "Peroxisomebiogenesis disorder 4A (OMIM:614862)" "" "" "" "" "" "" "" "" "" "" "" "0000079446" "05167" "00065273" "01604" "Familial, autosomal recessive" "21y" "Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)" "" "01y" "" "" "" "" "" "" "" "" "" "0000079447" "05167" "00065274" "01604" "Familial, autosomal recessive" "16y" "Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), severe sensorineural hearing impairment (HP:0008625), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)" "" "00y00m" "" "" "" "" "" "" "" "" "" "0000079448" "05167" "00065275" "01604" "Familial, autosomal recessive" "21y" "Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754)" "" "03y" "" "" "" "" "" "" "" "" "" "0000079449" "05167" "00065276" "01604" "Familial, autosomal recessive" "21y" "Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754)" "" "03y" "" "" "" "" "" "" "" "" "" "0000216680" "00198" "00283314" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Neonatal adrenoleukodystrophy" "" "0000216683" "00198" "00283334" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000216684" "00198" "00283362" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Neonatal adrenoleukodystrophy" "" "0000216685" "00198" "00283377" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Tetralogy of Fallot" "" "0000218065" "05079" "00283308" "00008" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218066" "05079" "00283313" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4" "peroxisome biogenesis disorder" "" "0000218067" "05079" "00283323" "00008" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218068" "05079" "00283335" "00008" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218069" "05079" "00283339" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218070" "05079" "00283346" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4A" "peroxisome biogenesis disorder" "" "0000218073" "05079" "00283364" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4A" "peroxisome biogenesis disorder" "" "0000218076" "05079" "00283384" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218896" "05079" "00283299" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218898" "05079" "00283301" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218899" "05079" "00283302" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218902" "05079" "00283305" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218903" "05079" "00283306" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218904" "05079" "00283307" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218905" "05079" "00283309" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218906" "05079" "00283310" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218907" "05079" "00283311" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218908" "05079" "00283312" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218911" "05079" "00283317" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218915" "05079" "00283321" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218917" "05079" "00283324" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218922" "05079" "00283332" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218926" "05079" "00283338" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218934" "05079" "00283348" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218937" "05079" "00283351" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218938" "05079" "00283352" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218939" "05079" "00283353" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218940" "05079" "00283354" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218941" "05079" "00283355" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218942" "05079" "00283356" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218945" "05079" "00283361" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218946" "05079" "00283363" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218948" "05079" "00283367" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218952" "05079" "00283372" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218954" "05079" "00283374" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218955" "05079" "00283376" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218956" "05079" "00283378" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218957" "05079" "00283379" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218958" "05079" "00283381" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218959" "05079" "00283382" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type C" "Zellweger syndrome" "" "0000218961" "05079" "00283385" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219351" "05667" "00282363" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 2A" "Waardenburg syndrome" "" "0000223045" "00198" "00289433" "01807" "Unknown" "" "Muscular hypotonia (HP:0001252); Multicystic kidney dysplasia (HP:0000003); Syndactyly (HP:0001159); Seizures (HP:0001250); Failure to thrive (HP:0001508); Retrognathia (HP:0000278); Low-set ears (HP:0000369); Hypertelorism (HP:0000316); Joint hypermobility (HP:0001382); Rocker bottom foot (HP:0001838)" "" "" "" "" "" "" "" "" "" "" "" "0000234618" "04214" "00309298" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PBD" "" "0000235410" "05079" "00310099" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235413" "05079" "00310104" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235414" "05079" "00310105" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235415" "05079" "00310106" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235416" "05079" "00310107" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235417" "05079" "00310108" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235418" "05079" "00310109" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235419" "05079" "00310110" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235421" "05079" "00310113" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235422" "05079" "00310114" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235423" "05079" "00310115" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235424" "05079" "00310116" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235425" "05079" "00310117" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235426" "05079" "00310118" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235428" "05079" "00310120" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235429" "05079" "00310121" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235430" "05079" "00310122" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235431" "05079" "00310123" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235435" "05079" "00310127" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235437" "05079" "00310129" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235438" "05079" "00310130" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235439" "05079" "00310131" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235440" "05079" "00310132" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235441" "05079" "00310133" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235442" "05079" "00310134" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235444" "05079" "00310136" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235445" "05079" "00310137" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235446" "05079" "00310138" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235447" "05079" "00310139" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235448" "05079" "00310140" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235449" "05079" "00310141" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235450" "05079" "00310145" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235451" "05079" "00310147" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235452" "05079" "00310148" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235453" "05079" "00310149" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235454" "05079" "00310150" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235457" "05079" "00310153" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235458" "05079" "00310154" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235459" "05079" "00310155" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235460" "05079" "00310156" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235461" "05079" "00310157" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235462" "05079" "00310158" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235463" "05079" "00310159" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235464" "05079" "00310160" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235465" "05079" "00310161" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235466" "05079" "00310162" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235467" "05079" "00310163" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235468" "05079" "00310164" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235469" "05079" "00310165" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235470" "05079" "00310166" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235471" "05079" "00310167" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235472" "05079" "00310168" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235473" "05079" "00310169" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235474" "05079" "00310170" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235475" "05079" "00310171" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235476" "05079" "00310172" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235477" "05079" "00310173" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235478" "05079" "00310174" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235479" "05079" "00310175" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235480" "05079" "00310176" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235481" "05079" "00310177" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235482" "05079" "00310178" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235483" "05079" "00310179" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235484" "05079" "00310180" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235485" "05079" "00310181" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235486" "05079" "00310182" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235487" "05079" "00310183" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235488" "05079" "00310184" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235489" "05079" "00310185" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235490" "05079" "00310186" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235491" "05079" "00310187" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235492" "05079" "00310188" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235493" "05079" "00310189" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235494" "05079" "00310190" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235495" "05079" "00310191" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235496" "05079" "00310192" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235497" "05079" "00310193" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235498" "05079" "00310194" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235499" "05079" "00310195" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235500" "05079" "00310196" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235501" "05079" "00310197" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235502" "05079" "00310198" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235507" "05079" "00310205" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235508" "05079" "00310206" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235925" "05079" "00310636" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235933" "05079" "00310644" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235934" "05079" "00310645" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000245691" "05412" "00327400" "03980" "Familial, autosomal recessive" "11y" "Fundus/History: Bilateral macular schisis, vitreous veils, mild pigmentary retinopathy. Right eye developed shallow rhegmatogenous inferior retinal detachment, and was treated by scleral buckle procedure, cryotherapy with gas injection.\r\n\r\nOcular Coherence Tomography: Bilateral parafoveal thinning of the outer retina layers. Central splitting between the inner nuclear and the outer plexiform layer. \r\n\r\nElectroretinogram (ERG): Small residual cone flicker (6.2 microV in OD, and 7.1 microV in OS) with no measurable responses to ISCE standard seriesd ERG in ffERG" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 172 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050072" "00050127" "1" "00088" "00088" "2015-09-23 15:48:27" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000051441" "00051496" "1" "01400" "01400" "2015-09-30 10:15:51" "" "" "SEQ-NG" "DNA" "" "" "0000051442" "00051497" "1" "01400" "01400" "2015-09-30 10:37:03" "" "" "SEQ-NG" "DNA" "" "" "0000065424" "00065273" "1" "01604" "01604" "2016-05-25 12:18:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065425" "00065274" "1" "01604" "01604" "2016-05-25 12:36:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065426" "00065275" "1" "01604" "01604" "2016-05-25 12:45:23" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065427" "00065276" "1" "01604" "01604" "2016-05-25 12:55:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080941" "00080829" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000209648" "00208599" "1" "03131" "03131" "2018-12-11 17:20:48" "" "" "SEQ-NG-I" "DNA" "Blood" "gene panel" "0000283513" "00282363" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284449" "00283299" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284451" "00283301" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284452" "00283302" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284455" "00283305" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284456" "00283306" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284457" "00283307" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284458" "00283308" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 09:42:35" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284459" "00283309" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284460" "00283310" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284461" "00283311" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:33:10" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284462" "00283312" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:27:55" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284463" "00283313" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 18:35:32" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284464" "00283314" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:47:37" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284467" "00283317" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284471" "00283321" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284473" "00283323" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 09:54:28" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284474" "00283324" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284482" "00283332" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284484" "00283334" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284485" "00283335" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 09:50:08" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284488" "00283338" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:30:24" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284489" "00283339" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284496" "00283346" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284498" "00283348" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:22:43" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284501" "00283351" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284502" "00283352" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284503" "00283353" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284504" "00283354" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284505" "00283355" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284506" "00283356" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:19:52" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284511" "00283361" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:16:13" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284512" "00283362" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284513" "00283363" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:13:02" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284514" "00283364" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284515" "00283365" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284517" "00283367" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284518" "00283368" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284522" "00283372" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284524" "00283374" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:10:42" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284526" "00283376" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 18:47:54" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284527" "00283377" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284528" "00283378" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:06:51" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284529" "00283379" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284530" "00283380" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284531" "00283381" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284532" "00283382" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 19:02:42" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284534" "00283384" "1" "02015" "00008" "2020-02-05 13:36:16" "00006" "2020-09-08 21:37:50" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284535" "00283385" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000284536" "00283386" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-09-09 12:03:05" "SEQ" "DNA" "" "" "0000290603" "00289433" "1" "01807" "01807" "2020-03-09 11:34:24" "" "" "SEQ" "DNA" "" "" "0000295276" "00294108" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295277" "00294109" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295278" "00294110" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306231" "00305102" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310443" "00309298" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000311247" "00310099" "1" "00006" "00006" "2020-09-08 16:27:06" "" "" "SEQ" "DNA" "" "" "0000311252" "00310104" "1" "00006" "00006" "2020-09-08 22:15:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311253" "00310105" "1" "00006" "00006" "2020-09-08 22:15:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311254" "00310106" "1" "00006" "00006" "2020-09-08 22:15:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311255" "00310107" "1" "00006" "00006" "2020-09-08 22:15:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311256" "00310108" "1" "00006" "00006" "2020-09-08 22:15:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311257" "00310109" "1" "00006" "00006" "2020-09-08 22:15:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311258" "00310110" "1" "00006" "00006" "2020-09-08 22:15:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311259" "00310111" "1" "00006" "00006" "2020-09-08 22:38:50" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311262" "00310113" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311263" "00310114" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311264" "00310115" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311265" "00310116" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311266" "00310117" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311267" "00310118" "1" "02015" "00006" "2010-02-11 12:23:20" "" "" "SEQ" "DNA" "" "" "0000311269" "00310120" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311270" "00310121" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311271" "00310122" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311272" "00310123" "1" "02015" "00006" "2010-02-11 12:23:20" "" "" "SEQ" "DNA" "" "" "0000311273" "00310124" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311276" "00310127" "1" "02015" "00006" "2008-11-20 18:06:00" "" "" "SEQ" "DNA" "" "" "0000311278" "00310129" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311279" "00310130" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311280" "00310131" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311281" "00310132" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311282" "00310133" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311283" "00310134" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "SEQ" "DNA" "" "" "0000311285" "00310136" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "SEQ" "DNA" "" "" "0000311286" "00310137" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311287" "00310138" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "SEQ" "DNA" "" "" "0000311288" "00310139" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311289" "00310140" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311290" "00310141" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "SEQ" "DNA" "" "" "0000311291" "00310142" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "SEQ" "DNA" "" "" "0000311292" "00310143" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "SEQ" "DNA" "" "" "0000311293" "00310144" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "SEQ" "DNA" "" "" "0000311294" "00310145" "1" "02015" "00006" "2006-10-30 15:58:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311295" "00310146" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "SEQ" "DNA" "" "" "0000311296" "00310147" "1" "02015" "00006" "2006-10-30 19:23:00" "" "" "SEQ" "DNA" "" "" "0000311297" "00310148" "1" "02015" "00006" "2006-10-30 19:28:00" "" "" "SEQ" "DNA" "" "" "0000311298" "00310149" "1" "02015" "00006" "2006-10-30 19:29:00" "" "" "SEQ" "DNA" "" "" "0000311299" "00310150" "1" "02015" "00006" "2006-10-30 19:33:00" "" "" "SEQ" "DNA" "" "" "0000311300" "00310151" "1" "02015" "00006" "2010-02-09 15:29:30" "" "" "SEQ" "DNA" "" "" "0000311301" "00310152" "1" "02015" "00006" "2010-02-11 12:23:20" "" "" "SEQ" "DNA" "" "" "0000311302" "00310153" "1" "02015" "00006" "2006-10-23 19:18:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311303" "00310154" "1" "02015" "00006" "2006-10-23 19:21:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311304" "00310155" "1" "00006" "00006" "2010-02-11 12:39:55" "00006" "2020-09-09 11:05:15" "SEQ" "DNA" "" "" "0000311305" "00310156" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311306" "00310157" "1" "02015" "00006" "2010-02-09 15:29:30" "" "" "SEQ" "DNA" "" "" "0000311307" "00310158" "1" "02015" "00006" "2010-02-09 15:29:30" "" "" "SEQ" "DNA" "" "" "0000311308" "00310159" "1" "02015" "00006" "2010-02-09 15:29:30" "" "" "SEQ" "DNA" "" "" "0000311309" "00310160" "1" "02015" "00006" "2010-02-11 12:23:20" "" "" "SEQ" "DNA" "" "" "0000311310" "00310161" "1" "02015" "00006" "2010-02-11 12:23:20" "" "" "SEQ" "DNA" "" "" "0000311311" "00310162" "1" "02015" "00006" "2010-02-11 12:23:20" "" "" "SEQ" "DNA" "" "" "0000311312" "00310163" "1" "02015" "00006" "2010-02-11 12:23:20" "" "" "SEQ" "DNA" "" "" "0000311313" "00310164" "1" "02015" "00006" "2010-02-11 12:39:55" "" "" "SEQ" "DNA" "" "" "0000311314" "00310165" "1" "02015" "00006" "2010-02-11 12:39:55" "" "" "SEQ" "DNA" "" "" "0000311315" "00310166" "1" "02015" "00006" "2010-02-11 12:39:55" "" "" "SEQ" "DNA" "" "" "0000311316" "00310167" "1" "02015" "00006" "2010-02-11 12:44:25" "" "" "SEQ" "DNA" "" "" "0000311317" "00310168" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311318" "00310169" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311319" "00310170" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311320" "00310171" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311321" "00310172" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311322" "00310173" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311323" "00310174" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311324" "00310175" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311325" "00310176" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311326" "00310177" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311327" "00310178" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311328" "00310179" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311329" "00310180" "1" "02015" "00006" "2010-02-11 17:10:03" "" "" "SEQ" "DNA" "" "" "0000311330" "00310181" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311331" "00310182" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311332" "00310183" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311333" "00310184" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311334" "00310185" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311335" "00310186" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311336" "00310187" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311337" "00310188" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311338" "00310189" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311339" "00310190" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311340" "00310191" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311341" "00310192" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311342" "00310193" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311343" "00310194" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311344" "00310195" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311345" "00310196" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311346" "00310197" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311347" "00310198" "1" "02015" "00006" "2010-02-12 10:49:34" "" "" "SEQ" "DNA" "" "" "0000311353" "00310205" "1" "02015" "00006" "2006-05-05 10:29:00" "" "" "SEQ" "DNA" "" "" "0000311354" "00310206" "1" "02015" "00006" "2010-02-11 12:23:20" "" "" "SEQ" "DNA" "" "" "0000311788" "00310636" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311796" "00310644" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311797" "00310645" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311807" "00310655" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311808" "00310656" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311809" "00310657" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311810" "00310658" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311811" "00310659" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311812" "00310660" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311813" "00310661" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311814" "00310662" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311815" "00310663" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311816" "00310664" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311817" "00310665" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000328612" "00327400" "1" "03980" "03980" "2021-01-20 21:57:41" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 163 "{{screeningid}}" "{{geneid}}" "0000050072" "PEX6" "0000065424" "PEX6" "0000065425" "PEX6" "0000065426" "PEX6" "0000065427" "PEX6" "0000080941" "PEX6" "0000283513" "PEX6" "0000284449" "PEX6" "0000284451" "PEX6" "0000284452" "PEX6" "0000284455" "PEX6" "0000284456" "PEX6" "0000284457" "PEX6" "0000284458" "PEX6" "0000284459" "PEX6" "0000284460" "PEX6" "0000284461" "PEX6" "0000284462" "PEX6" "0000284463" "PEX6" "0000284464" "PEX6" "0000284467" "PEX6" "0000284471" "PEX6" "0000284473" "PEX6" "0000284474" "PEX6" "0000284482" "PEX6" "0000284484" "PEX6" "0000284485" "PEX6" "0000284488" "PEX6" "0000284489" "PEX6" "0000284496" "PEX6" "0000284498" "PEX6" "0000284501" "PEX6" "0000284502" "PEX6" "0000284503" "PEX6" "0000284504" "PEX6" "0000284505" "PEX6" "0000284506" "PEX6" "0000284511" "PEX6" "0000284512" "PEX6" "0000284513" "PEX6" "0000284514" "PEX6" "0000284515" "PEX6" "0000284517" "PEX6" "0000284518" "PEX6" "0000284522" "PEX6" "0000284524" "PEX6" "0000284526" "PEX6" "0000284527" "PEX6" "0000284528" "PEX6" "0000284529" "PEX6" "0000284530" "PEX6" "0000284531" "PEX6" "0000284532" "PEX6" "0000284534" "PEX6" "0000284535" "PEX6" "0000284536" "PEX6" "0000310443" "PEX6" "0000311247" "PEX12" "0000311252" "PEX6" "0000311253" "PEX6" "0000311254" "PEX6" "0000311255" "PEX6" "0000311256" "PEX6" "0000311257" "PEX6" "0000311258" "PEX6" "0000311259" "PEX6" "0000311262" "PEX6" "0000311263" "PEX6" "0000311264" "PEX6" "0000311265" "PEX6" "0000311266" "PEX6" "0000311267" "PEX6" "0000311269" "PEX6" "0000311270" "PEX6" "0000311271" "PEX6" "0000311272" "PEX6" "0000311273" "PEX6" "0000311276" "PEX6" "0000311278" "PEX6" "0000311279" "PEX6" "0000311280" "PEX6" "0000311281" "PEX6" "0000311282" "PEX6" "0000311283" "PEX6" "0000311285" "PEX6" "0000311286" "PEX6" "0000311287" "PEX6" "0000311288" "PEX6" "0000311289" "PEX6" "0000311290" "PEX6" "0000311291" "PEX6" "0000311292" "PEX6" "0000311293" "PEX6" "0000311294" "PEX6" "0000311295" "PEX6" "0000311296" "PEX6" "0000311297" "PEX6" "0000311298" "PEX6" "0000311299" "PEX6" "0000311300" "PEX6" "0000311301" "PEX6" "0000311302" "PEX6" "0000311303" "PEX6" "0000311304" "PEX6" "0000311305" "PEX6" "0000311306" "PEX6" "0000311307" "PEX6" "0000311308" "PEX6" "0000311309" "PEX6" "0000311310" "PEX6" "0000311311" "PEX6" "0000311312" "PEX6" "0000311313" "PEX6" "0000311314" "PEX6" "0000311315" "PEX6" "0000311316" "PEX6" "0000311317" "PEX6" "0000311318" "PEX6" "0000311319" "PEX6" "0000311320" "PEX6" "0000311321" "PEX6" "0000311322" "PEX6" "0000311323" "PEX6" "0000311324" "PEX6" "0000311325" "PEX6" "0000311326" "PEX6" "0000311327" "PEX6" "0000311328" "PEX6" "0000311329" "PEX6" "0000311330" "PEX6" "0000311331" "PEX6" "0000311332" "PEX6" "0000311333" "PEX6" "0000311334" "PEX6" "0000311335" "PEX6" "0000311336" "PEX6" "0000311337" "PEX6" "0000311338" "PEX6" "0000311339" "PEX6" "0000311340" "PEX6" "0000311341" "PEX6" "0000311342" "PEX6" "0000311343" "PEX6" "0000311344" "PEX6" "0000311345" "PEX6" "0000311346" "PEX6" "0000311347" "PEX6" "0000311353" "PEX6" "0000311354" "PEX6" "0000311788" "PEX1" "0000311796" "PEX6" "0000311797" "PEX6" "0000311807" "PEX6" "0000311808" "PEX6" "0000311809" "PEX6" "0000311810" "PEX6" "0000311811" "PEX6" "0000311812" "PEX6" "0000311813" "PEX6" "0000311814" "PEX6" "0000311815" "PEX6" "0000311816" "PEX6" "0000311817" "PEX6" ## 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 = 267 "{{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}}" "0000079032" "3" "70" "6" "42937535" "42937535" "subst" "0" "00088" "PEX6_000120" "g.42937535C>A" "" "under revision" "" "" "" "Germline" "yes" "" "0" "" "" "g.42969797C>A" "" "likely pathogenic" "" "0000080490" "3" "70" "6" "42932599" "42932599" "subst" "0.00000406167" "01400" "PEX6_000121" "g.42932599G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42964861G>A" "" "likely pathogenic" "" "0000080491" "3" "70" "6" "42932599" "42932599" "subst" "0.00000406167" "01400" "PEX6_000121" "g.42932599G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42964861G>A" "" "likely pathogenic" "" "0000097106" "2" "90" "6" "42934551" "42934551" "subst" "0.0000446893" "01604" "PEX6_000123" "g.42934551G>A" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42966813G>A" "" "pathogenic" "" "0000097107" "1" "90" "6" "42946068" "42946068" "subst" "0.0000365476" "01604" "PEX6_000055" "g.42946068G>A" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42978330G>A" "" "pathogenic" "" "0000097108" "1" "90" "6" "42946068" "42946068" "subst" "0.0000365476" "01604" "PEX6_000055" "g.42946068G>A" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42978330G>A" "" "pathogenic" "" "0000097109" "2" "90" "6" "42934551" "42934551" "subst" "0.0000446893" "01604" "PEX6_000123" "g.42934551G>A" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42966813G>A" "" "pathogenic" "" "0000097110" "1" "90" "6" "42935188" "42935188" "subst" "0.00281403" "01604" "PEX6_000006" "g.42935188C>T" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42967450C>T" "" "pathogenic" "" "0000097111" "2" "90" "6" "42935149" "42935149" "del" "0.0000040996" "01604" "PEX6_000124" "g.42935149del" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42967411del" "" "pathogenic" "" "0000097112" "1" "90" "6" "42935188" "42935188" "subst" "0.00281403" "01604" "PEX6_000006" "g.42935188C>T" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42967450C>T" "" "pathogenic" "" "0000097113" "2" "90" "6" "42935149" "42935149" "del" "0.0000040996" "01604" "PEX6_000124" "g.42935149del" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42967411del" "" "pathogenic" "" "0000130027" "3" "90" "6" "42935188" "42935188" "subst" "0.00281403" "01758" "PEX6_000125" "g.42935188C>T" "" "Trujillano et al., submitted" "" "" "" "Germline" "" "" "0" "" "" "g.42967450C>T" "" "pathogenic" "ACMG" "0000164217" "0" "90" "6" "42946068" "42946068" "subst" "0.0000365476" "00006" "PEX6_000055" "g.42946068G>A" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.05)" "In vitro (cloned)" "" "" "0" "" "" "g.42978330G>A" "" "NA" "" "0000164218" "0" "90" "6" "42935188" "42935188" "subst" "0.00281403" "00006" "PEX6_000006" "g.42935188C>T" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.35)" "In vitro (cloned)" "" "" "0" "" "" "g.42967450C>T" "" "NA" "" "0000164219" "0" "90" "6" "42935149" "42935149" "del" "0.0000040996" "00006" "PEX6_000124" "g.42935149del" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "cDNA expression cloning in PEX6 defective fibroblasts showed no complementation (0.00)" "In vitro (cloned)" "" "" "0" "" "" "g.42967411del" "" "NA" "" "0000164220" "0" "90" "6" "42934551" "42934551" "subst" "0.0000446893" "00006" "PEX6_000123" "g.42934551G>A" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.25)" "In vitro (cloned)" "" "" "0" "" "" "g.42966813G>A" "" "NA" "" "0000249097" "0" "10" "6" "42942779" "42942779" "subst" "0.374172" "02325" "PEX6_000141" "g.42942779A>G" "" "" "" "PEX6(NM_000287.3):c.883-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42975041A>G" "" "benign" "" "0000255016" "0" "30" "6" "42936207" "42936207" "subst" "0.00000504022" "01943" "PEX6_000139" "g.42936207A>G" "" "" "" "PEX6(NM_000287.3):c.1509T>C (p.S503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42968469A>G" "" "likely benign" "" "0000256621" "0" "50" "6" "42935284" "42935284" "subst" "0.0000267023" "01943" "PEX6_000136" "g.42935284A>G" "" "" "" "PEX6(NM_000287.3):c.1706T>C (p.V569A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42967546A>G" "" "VUS" "" "0000281101" "0" "10" "6" "42931261" "42931261" "subst" "0.577788" "02325" "GNMT_000001" "g.42931261C>G" "" "" "" "GNMT(NM_018960.5):c.717-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42963523C>G" "" "benign" "" "0000296914" "0" "50" "6" "42935272" "42935272" "subst" "0.00128917" "02325" "PEX6_000135" "g.42935272G>A" "" "" "" "PEX6(NM_000287.3):c.1718C>T (p.T573I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42967534G>A" "" "VUS" "" "0000296916" "0" "10" "6" "42934500" "42934500" "subst" "0.478018" "02325" "PEX6_000134" "g.42934500C>T" "" "" "" "PEX6(NM_000287.3):c.1961+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42966762C>T" "" "benign" "" "0000296917" "0" "30" "6" "42933464" "42933464" "subst" "0.0550619" "02325" "PEX6_000131" "g.42933464G>A" "" "" "" "PEX6(NM_000287.3):c.2426C>T (p.A809V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42965726G>A" "" "likely benign" "" "0000296918" "0" "10" "6" "42932202" "42932202" "subst" "0.476574" "02325" "PEX6_000128" "g.42932202C>T" "" "" "" "PEX6(NM_000287.3):c.2814G>A (p.E938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42964464C>T" "" "benign" "" "0000296919" "0" "10" "6" "42932200" "42932200" "subst" "0.383546" "02325" "PEX6_000127" "g.42932200G>T" "" "" "" "PEX6(NM_000287.3):c.2816C>A (p.P939Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42964462G>T" "" "benign" "" "0000296920" "0" "10" "6" "42946490" "42946490" "subst" "0.376405" "02325" "PEX6_000146" "g.42946490C>A" "" "" "" "PEX6(NM_000287.3):c.399G>T (p.V133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42978752C>A" "" "benign" "" "0000296921" "0" "30" "6" "42946358" "42946358" "subst" "0" "02325" "PEX6_000144" "g.42946358T>G" "" "" "" "PEX6(NM_000287.3):c.531A>C (p.P177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42978620T>G" "" "likely benign" "" "0000296922" "0" "30" "6" "42946036" "42946036" "subst" "0.00152709" "02325" "PEX6_000142" "g.42946036G>C" "" "" "" "PEX6(NM_000287.3):c.853C>G (p.P285A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42978298G>C" "" "likely benign" "" "0000300726" "0" "10" "6" "42933464" "42933464" "subst" "0.0550619" "02326" "PEX6_000131" "g.42933464G>A" "" "" "" "PEX6(NM_000287.3):c.2426C>T (p.A809V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42965726G>A" "" "benign" "" "0000305494" "0" "30" "6" "42936036" "42936036" "subst" "0.000291342" "01943" "PEX6_000137" "g.42936036G>A" "" "" "" "PEX6(NM_000287.3):c.1680C>T (p.P560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42968298G>A" "" "likely benign" "" "0000305495" "0" "50" "6" "42935272" "42935272" "subst" "0.00128917" "01943" "PEX6_000135" "g.42935272G>A" "" "" "" "PEX6(NM_000287.3):c.1718C>T (p.T573I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42967534G>A" "" "VUS" "" "0000305497" "0" "90" "6" "42933782" "42933782" "subst" "0.0000162431" "01943" "PEX6_000132" "g.42933782C>T" "" "" "" "PEX6(NM_000287.3):c.2362G>A (p.V788M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42966044C>T" "" "pathogenic" "" "0000305498" "0" "30" "6" "42933454" "42933454" "subst" "0.000365458" "01943" "PEX6_000130" "g.42933454C>T" "" "" "" "PEX6(NM_000287.3):c.2436G>A (p.R812=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42965716C>T" "" "likely benign" "" "0000305499" "0" "10" "6" "42932564" "42932564" "subst" "0.00146748" "01943" "PEX6_000129" "g.42932564C>A" "" "" "" "PEX6(NM_000287.3):c.2770G>T (p.A924S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42964826C>A" "" "benign" "" "0000305500" "0" "30" "6" "42946482" "42946482" "subst" "0.0000235971" "01943" "PEX6_000145" "g.42946482G>T" "" "" "" "PEX6(NM_000287.3):c.407C>A (p.P136Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42978744G>T" "" "likely benign" "" "0000305501" "0" "10" "6" "42946076" "42946076" "subst" "0.0013726" "01943" "PEX6_000143" "g.42946076C>A" "" "" "" "PEX6(NM_000287.3):c.813G>T (p.A271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42978338C>A" "" "benign" "" "0000305502" "0" "30" "6" "42942756" "42942756" "subst" "0.0000284574" "01943" "PEX6_000140" "g.42942756G>A" "" "" "" "PEX6(NM_000287.3):c.903C>T (p.I301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42975018G>A" "" "likely benign" "" "0000331024" "0" "50" "6" "42932080" "42932080" "subst" "0.00185397" "01804" "PEX6_000126" "g.42932080G>A" "" "" "" "PEX6(NM_000287.3):c.2936C>T (p.(Ala979Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42964342G>A" "" "VUS" "" "0000331025" "0" "50" "6" "42933787" "42933787" "subst" "0.0000203037" "01804" "PEX6_000133" "g.42933787C>T" "" "" "" "PEX6(NM_000287.3):c.2357G>A (p.(Arg786Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42966049C>T" "" "VUS" "" "0000331026" "0" "50" "6" "42936070" "42936070" "subst" "0.00189458" "01804" "PEX6_000138" "g.42936070G>A" "" "" "" "PEX6(NM_000287.3):c.1646C>T (p.(Ala549Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42968332G>A" "" "VUS" "" "0000343390" "0" "90" "6" "42933455" "42933455" "subst" "0.0000121821" "02327" "PEX6_000147" "g.42933455C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42965717C>T" "" "pathogenic" "" "0000439816" "0" "50" "6" "42932835" "42932835" "subst" "0.0227491" "03131" "PEX6_000149" "g.42932835C>T" "" "" "" "" "" "Germline" "yes" "rs141238034" "0" "" "" "g.42965097C>T" "" "VUS" "" "0000528870" "0" "10" "6" "42932080" "42932080" "subst" "0.00185397" "02327" "PEX6_000126" "g.42932080G>A" "" "" "" "PEX6(NM_000287.3):c.2936C>T (p.(Ala979Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42964342G>A" "" "benign" "" "0000528872" "0" "30" "6" "42932875" "42932875" "subst" "0.0000446737" "01943" "CNPY3_000001" "g.42932875C>T" "" "" "" "PEX6(NM_000287.3):c.2604G>A (p.V868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42965137C>T" "" "likely benign" "" "0000528873" "0" "50" "6" "42934143" "42934143" "subst" "0" "01943" "CNPY3_000002" "g.42934143C>A" "" "" "" "PEX6(NM_000287.3):c.2137G>T (p.V713L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42966405C>A" "" "VUS" "" "0000528875" "0" "10" "6" "42936070" "42936070" "subst" "0.00189458" "02327" "PEX6_000138" "g.42936070G>A" "" "" "" "PEX6(NM_000287.3):c.1646C>T (p.(Ala549Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42968332G>A" "" "benign" "" "0000528876" "0" "50" "6" "42936151" "42936151" "subst" "0.0000206729" "01943" "CNPY3_000003" "g.42936151C>G" "" "" "" "PEX6(NM_000287.3):c.1565G>C (p.R522P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42968413C>G" "" "VUS" "" "0000528877" "0" "10" "6" "42936241" "42936241" "subst" "0.00377633" "01943" "CNPY3_000004" "g.42936241G>A" "" "" "" "PEX6(NM_000287.3):c.1480-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42968503G>A" "" "benign" "" "0000528878" "0" "50" "6" "42937685" "42937685" "subst" "0.000406068" "02330" "GNMT_000002" "g.42937685C>T" "" "" "" "PEX6(NM_000287.3):c.1171G>A (p.E391K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42969947C>T" "" "VUS" "" "0000528879" "0" "90" "6" "42942633" "42942633" "del" "0" "02325" "PEX6_000148" "g.42942633del" "" "" "" "PEX6(NM_000287.3):c.1027delC (p.R343Gfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42974895del" "" "pathogenic" "" "0000528880" "0" "30" "6" "42942671" "42942671" "subst" "0" "01943" "GNMT_000003" "g.42942671G>A" "" "" "" "PEX6(NM_000287.3):c.988C>T (p.H330Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42974933G>A" "" "likely benign" "" "0000528881" "0" "30" "6" "42942734" "42942734" "subst" "0.0000162555" "01804" "GNMT_000004" "g.42942734A>C" "" "" "" "PEX6(NM_000287.3):c.925T>G (p.(Cys309Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42974996A>C" "" "likely benign" "" "0000528882" "0" "50" "6" "42946036" "42946036" "subst" "0.00152709" "01943" "PEX6_000142" "g.42946036G>C" "" "" "" "PEX6(NM_000287.3):c.853C>G (p.P285A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978298G>C" "" "VUS" "" "0000528883" "0" "50" "6" "42946204" "42946204" "subst" "0.000418403" "02330" "GNMT_000005" "g.42946204T>C" "" "" "" "PEX6(NM_000287.3):c.685A>G (p.R229G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978466T>C" "" "VUS" "" "0000528885" "0" "30" "6" "42946864" "42946864" "subst" "0.000243706" "01943" "GNMT_000007" "g.42946864G>A" "" "" "" "PEX6(NM_000287.3):c.25C>T (p.L9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42979126G>A" "" "likely benign" "" "0000610353" "0" "30" "6" "42931423" "42931423" "subst" "0.0000243944" "01943" "CNPY3_000005" "g.42931423C>T" "" "" "" "GNMT(NM_018960.5):c.867C>T (p.H289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42963685C>T" "" "likely benign" "" "0000610354" "0" "90" "6" "42946073" "42946076" "dup" "0" "02327" "GNMT_000008" "g.42946073_42946076dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978335_42978338dup" "" "pathogenic" "" "0000621710" "0" "30" "6" "42946358" "42946358" "subst" "0" "01943" "PEX6_000144" "g.42946358T>G" "" "" "" "PEX6(NM_000287.3):c.531A>C (p.P177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978620T>G" "" "likely benign" "" "0000621711" "0" "50" "6" "42946587" "42946587" "subst" "0" "01943" "GNMT_000009" "g.42946587G>A" "" "" "" "PEX6(NM_000287.3):c.302C>T (p.P101L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978849G>A" "" "VUS" "" "0000639255" "1" "99" "6" "42934396" "42934396" "subst" "0" "00004" "PEX6_000176" "g.42934396C>T" "" "{DB:DVD}, {PMID:Nobukuni 1996:8659547}, {PMID:Lalwani 1998:9856573}, {PMID:Xiong 2015:25525159}" "" "" "" "Germline" "" "" "0" "" "" "g.42966658C>T" "" "pathogenic" "" "0000640191" "3" "90" "6" "42932369" "42933263" "del" "0" "00004" "PEX6_000115" "g.(42932210_42932527)_(42933107_42933418)del" "" "{PMID:Ebberink 2010:19877282}" "" "del ex14-16" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000640193" "1" "90" "6" "42932811" "42932811" "subst" "0" "00004" "PEX6_000153" "g.42932811A>G" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "Germline" "" "" "0" "" "" "g.42965073A>G" "" "pathogenic (recessive)" "" "0000640194" "1" "99" "6" "42932816" "42932816" "subst" "0" "00004" "PEX6_000154" "g.42932816C>G" "" "{DB:DVD}, {PMID:Ebberink 2010:19877282}" "" "" "" "Germline" "" "" "0" "" "" "g.42965078C>G" "" "pathogenic" "" "0000640197" "2" "90" "6" "42932999" "42932999" "subst" "0.0000203095" "00004" "PEX6_000157" "g.42932999C>T" "" "{PMID:Yik 2009:19105186}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42965261C>T" "" "pathogenic (recessive)" "" "0000640198" "1" "90" "6" "42933000" "42933000" "subst" "0" "00004" "PEX6_000009" "g.42933000G>A" "" "{PMID:Yik 2009:19105186}, {DB:DVD}" "" "" "no variant 2nd chromosome reported" "Germline" "" "rs61753230" "0" "" "" "g.42965262G>A" "" "pathogenic (recessive)" "" "0000640199" "2" "90" "6" "42933032" "42933032" "subst" "0" "00004" "PEX6_000159" "g.42933032T>G" "" "{PMID:Yik 2009:19105186}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42965294T>G" "" "pathogenic (recessive)" "" "0000640200" "11" "97" "6" "42935275" "42935275" "subst" "0" "02015" "PEX6_000031" "g.42935275G>A" "" "{PMID:Raas-Rothschild 2002:11873320}, {DB:DVD}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000640201" "1" "90" "6" "42933096" "42933096" "subst" "0" "00004" "PEX6_000104" "g.42933096G>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "Germline" "" "" "0" "" "" "g.42965358G>A" "" "pathogenic" "" "0000640202" "1" "90" "6" "42933450" "42933450" "subst" "0.0000203042" "00004" "PEX6_000103" "g.42933450G>A" "" "{PMID:Ebberink 2010:19877282}, {DB:DVD}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "g.42965712G>A" "" "pathogenic (recessive)" "" "0000640203" "2" "90" "6" "42933455" "42933455" "subst" "0.0000121821" "02015" "PEX6_000027" "g.42933455C>T" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42965717C>T" "" "pathogenic (recessive)" "" "0000640204" "1" "90" "6" "42933456" "42933456" "subst" "0" "02015" "PEX6_000005" "g.42933456G>A" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.42965718G>A" "" "pathogenic (recessive)" "" "0000640205" "21" "90" "6" "42933473" "42933492" "delins" "0" "02015" "PEX6_000016" "g.42933473_42933492delinsA" "" "{PMID:Yahraus 1996:8670792}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42965735_42965754delinsA" "" "pathogenic (recessive)" "" "0000640206" "1" "90" "6" "42933782" "42933782" "subst" "0.0000162431" "00004" "PEX6_000001" "g.42933782C>T" "" "{PMID:Matsumoto 2001:11355018}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42966044C>T" "" "pathogenic (recessive)" "" "0000640209" "3" "90" "6" "42933858" "42933858" "subst" "0" "00004" "PEX6_000114" "g.42933858G>C" "" "{PMID:Ebberink 2010:19877282}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42966120G>C" "" "pathogenic (recessive)" "" "0000640213" "1" "90" "6" "42933464" "42933464" "subst" "0.0550619" "00006" "PEX6_000131" "g.42933464G>A" "" "{PMID:Krause 2009:19142205}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000640215" "1" "90" "6" "42934261" "42934261" "subst" "0" "02015" "PEX6_000032" "g.42934261A>G" "" "{PMID:Raas-Rothschild 2002:11873320}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42966523A>G" "" "pathogenic (recessive)" "" "0000640216" "1" "90" "6" "42933456" "42933456" "subst" "0" "00006" "PEX6_000005" "g.42933456G>A" "" "{PMID:Krause 2009:19142205}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000640224" "1" "90" "6" "42935189" "42935189" "subst" "0.0000207187" "00004" "PEX6_000018" "g.42935189G>A" "" "{PMID:Ebberink 2010:19877282}, {DB:DVD}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "g.42967451G>A" "" "pathogenic (recessive)" "" "0000640226" "1" "77" "6" "42935272" "42935272" "subst" "0.00128917" "00004" "PEX6_000135" "g.42935272G>A" "" "{DB:DVD}, {PMID:Grunert 2014:24459294}" "" "" "" "Germline" "" "" "0" "" "" "g.42967534G>A" "" "likely pathogenic" "" "0000640227" "3" "90" "6" "42935275" "42935275" "subst" "0" "02015" "PEX6_000031" "g.42935275G>A" "" "{PMID:Raas-Rothschild 2002:11873320}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42967537G>A" "" "pathogenic (recessive)" "" "0000640230" "3" "90" "6" "42936027" "42936027" "subst" "0" "02015" "PEX6_000025" "g.42936027C>T" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42968289C>T" "" "pathogenic (recessive)" "" "0000640231" "1" "99" "6" "42936115" "42936115" "subst" "0" "00004" "PEX6_000186" "g.42936115A>G" "" "{DB:DVD}, {PMID:Najmabadi 2011:21937992}" "" "" "" "Germline" "" "" "0" "" "" "g.42968377A>G" "" "pathogenic" "" "0000640238" "1" "99" "6" "42937436" "42937437" "del" "0" "00004" "PEX6_000193" "g.42937436_42937437del" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "Germline" "" "" "0" "" "" "g.42969698_42969699del" "" "pathogenic" "" "0000640240" "3" "90" "6" "42937472" "42937472" "del" "0" "02015" "PEX6_000030" "g.42937472del" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "1301delC" "" "Germline" "" "" "0" "" "" "g.42969734del" "" "pathogenic (recessive)" "" "0000640243" "1" "90" "6" "42941740" "42941740" "subst" "0" "02015" "PEX6_000076" "g.42941740C>T" "" "{PMID:Fukuda 1996:8940266}, {DB:DVD}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.42974002C>T" "" "pathogenic (recessive)" "" "0000640244" "1" "99" "6" "42941817" "42941817" "subst" "0" "00004" "PEX6_000199" "g.42941817G>A" "" "{DB:DVD}, {PMID:Ebberink 2010:19877282}, {PMID:Xiong 2015:25525159}" "" "" "" "Germline" "" "" "0" "" "" "g.42974079G>A" "" "pathogenic" "" "0000640245" "1" "99" "6" "42941825" "42941825" "subst" "0" "00004" "PEX6_000200" "g.42941825C>T" "" "{DB:DVD}, {PMID:Ebberink 2010:19877282}, {PMID:Xiong 2015:25525159}" "" "" "" "Germline" "" "" "0" "" "" "g.42974087C>T" "" "pathogenic" "" "0000640246" "3" "90" "6" "42941826" "42941826" "subst" "0" "00004" "PEX6_000201" "g.42941826T>C" "" "{PMID:Ebberink 2010:19877282}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42974088T>C" "" "pathogenic (recessive)" "" "0000640247" "1" "90" "6" "42942745" "42942745" "del" "0" "00004" "PEX6_000058" "g.42942745del" "" "{PMID:Yik 2009:19105186}, {DB:DVD}" "" "914delA" "" "Germline" "" "" "0" "" "" "g.42975007del" "" "pathogenic (recessive)" "" "0000640248" "3" "90" "6" "42942778" "42942778" "subst" "0" "00004" "PEX6_000029" "g.42942778T>C" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "IVS1-2A>G" "" "Germline" "" "" "0" "" "" "g.42975040T>C" "" "pathogenic (recessive)" "" "0000640253" "3" "90" "6" "42946073" "42946076" "dup" "0" "02015" "PEX6_000024" "g.42946073_42946076dup" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "814insCTTG" "" "Germline" "" "" "0" "" "" "g.42978335_42978338dup" "" "pathogenic (recessive)" "" "0000640254" "1" "99" "6" "42946078" "42946091" "del" "0" "00004" "PEX6_000207" "g.42946078_42946091del" "" "{DB:DVD}, {PMID:Matsumoto 2001:11355018}, {PMID:Levesque 2012:22894767}" "" "" "" "Germline" "" "" "0" "" "" "g.42978340_42978353del" "" "pathogenic" "" "0000640255" "1" "90" "6" "42946162" "42946162" "subst" "0" "02015" "PEX6_000028" "g.42946162G>A" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.42978424G>A" "" "pathogenic (recessive)" "" "0000640256" "1" "99" "6" "42946197" "42946198" "ins" "0" "00004" "PEX6_000209" "g.42946197_42946198insCT" "" "{DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42978459_42978460insCT" "" "pathogenic" "" "0000640257" "1" "99" "6" "42946199" "42946200" "ins" "0" "00004" "PEX6_000210" "g.42946199_42946200insCT" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "Germline" "" "" "0" "" "" "g.42978461_42978462insCT" "" "pathogenic" "" "0000640259" "1" "99" "6" "42946203" "42946204" "dup" "0" "00004" "PEX6_000212" "g.42946203_42946204dup" "" "{DB:DVD}, {PMID:Ebberink 2010:19877282}" "" "" "" "Germline" "" "" "0" "" "" "g.42978465_42978466dup" "" "pathogenic" "" "0000640260" "1" "77" "6" "42946228" "42946228" "subst" "0" "00004" "PEX6_000213" "g.42946228C>A" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "Germline" "" "" "0" "" "" "g.42978490C>A" "" "likely pathogenic" "" "0000640264" "1" "99" "6" "42946278" "42946278" "subst" "0.0000081584" "00004" "PEX6_000217" "g.42946278G>C" "" "{DB:DVD}, {PMID:Al-Gazali 2010:20437613}" "" "" "" "Germline" "" "" "0" "" "" "g.42978540G>C" "" "pathogenic" "" "0000640266" "3" "90" "6" "42936027" "42936027" "subst" "0" "02015" "PEX6_000025" "g.42936027C>T" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42978625del" "" "pathogenic (recessive)" "" "0000640268" "3" "90" "6" "42946379" "42946379" "dup" "0" "02015" "PEX6_000007" "g.42946379dup" "" "{PMID:Fukuda 1996:8940266}, {DB:DVD}" "" "511insT" "" "Germline" "" "" "0" "" "" "g.42978641dup" "" "pathogenic (recessive)" "" "0000640269" "1" "77" "6" "42946401" "42946401" "subst" "0.000117378" "00004" "PEX6_000222" "g.42946401C>G" "" "{DB:DVD}, {PMID:Grunert 2014:24459294}" "" "" "" "Germline" "" "" "0" "" "" "g.42978663C>G" "" "likely pathogenic" "" "0000640270" "3" "90" "6" "42946487" "42946487" "del" "0" "02015" "PEX6_000023" "g.42946487del" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "402delC" "" "Germline" "" "" "0" "" "" "g.42978751del" "" "pathogenic (recessive)" "" "0000640271" "1" "90" "6" "42946578" "42946578" "del" "0.000018316" "00004" "PEX6_000224" "g.42946578del" "" "{DB:DVD}, {PMID:Ebberink 2010:19877282}" "" "311delG" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000640272" "1" "10" "6" "42933526" "42933526" "subst" "0.090081" "00006" "PEX6_000047" "g.42933526C>T" "" "{DB:DVD}, {PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000640273" "1" "90" "6" "42946820" "42946879" "del" "0" "00004" "PEX6_000004" "g.42946820_42946879del" "" "{PMID:Ebberink 2010:19877282}" "" "[10_69del;126_217del]" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000640274" "1" "90" "6" "42946612" "42946617" "del" "0" "02015" "PEX6_000021" "g.42946612_42946617del" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42978874_42978879del" "" "pathogenic (recessive)" "" "0000640276" "3" "90" "6" "42946719" "42946719" "subst" "0" "02015" "PEX6_000020" "g.42946719A>G" "" "{PMID:Imamura 2000:11004248}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.42978981A>G" "" "pathogenic (recessive)" "" "0000640277" "1" "99" "6" "42946772" "42946777" "del" "0" "00004" "PEX6_000230" "g.42946772_42946777del" "" "{DB:DVD}, {PMID:Ebberink 2010:19877282}" "" "" "" "Germline" "" "" "0" "" "" "g.42979034_42979039del" "" "pathogenic" "" "0000640278" "1" "10" "6" "42946076" "42946076" "subst" "0.0013726" "00006" "PEX6_000143" "g.42946076C>A" "0.013" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000647289" "3" "70" "6" "42932632" "42932632" "del" "0" "01807" "PEX6_000232" "g.42932632del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42964894del" "" "likely pathogenic" "" "0000651965" "1" "10" "6" "42932835" "42932835" "subst" "0.0227491" "03575" "PEX6_000149" "g.42932835C>T" "138/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "138 heterozygous; {DB:CLININrs141238034}" "Germline" "" "rs141238034" "0" "" "" "g.42965097C>T" "" "benign" "" "0000651966" "1" "90" "6" "42937436" "42937437" "del" "0" "03575" "PEX6_000233" "g.42937436_42937437del" "1/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123303}" "Germline" "" "rs398123303" "0" "" "" "g.42969698_42969699del" "" "pathogenic" "" "0000651967" "1" "70" "6" "42946228" "42946228" "subst" "0" "03575" "PEX6_000213" "g.42946228C>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs786205580}" "Germline" "" "rs786205580" "0" "" "" "g.42978490C>A" "" "likely pathogenic" "" "0000655592" "0" "30" "6" "42897382" "42897384" "del" "0" "02325" "PTCRA_000002" "g.42897382_42897384del" "" "" "" "CNPY3(NM_001318842.1):c.74_76delTGC (p.L25del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42929644_42929646del" "" "likely benign" "" "0000655593" "0" "30" "6" "42931332" "42931332" "subst" "0.0000203051" "01943" "CNPY3_000006" "g.42931332C>T" "" "" "" "GNMT(NM_018960.5):c.776C>T (p.A259V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42963594C>T" "" "likely benign" "" "0000655594" "0" "50" "6" "42946587" "42946587" "subst" "0" "02325" "GNMT_000010" "g.42946587G>C" "" "" "" "PEX6(NM_000287.3):c.302C>G (p.P101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978849G>C" "" "VUS" "" "0000669919" "3" "10" "6" "42932835" "42932835" "subst" "0.0227491" "03575" "PEX6_000149" "g.42932835C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs141238034}" "Germline" "" "rs141238034" "0" "" "" "g.42965097C>T" "" "benign" "" "0000677780" "0" "50" "6" "42946149" "42946149" "subst" "0.0000649773" "01943" "GNMT_000011" "g.42946149G>C" "" "" "" "PEX6(NM_000287.3):c.740C>G (p.P247R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685354" "0" "90" "6" "42935275" "42935275" "subst" "0" "00004" "PEX6_000182" "g.42935275G>A" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000686583" "1" "10" "6" "42946559" "42946559" "subst" "0.00771688" "00006" "PEX6_000234" "g.42946559G>C" "" "{PMID:Konkolova 2015:26094004}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000686584" "3" "10" "6" "42946490" "42946490" "subst" "0.376405" "00006" "PEX6_000146" "g.42946490C>A" "" "{PMID:Konkolova 2015:26094004}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000686593" "11" "90" "6" "42934396" "42934396" "subst" "0" "02015" "PEX6_000034" "g.42934396C>T" "" "{PMID:Yahraus 1996:8670792}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686594" "2" "90" "6" "42946359" "42946359" "del" "0.0000376982" "02015" "PEX6_000022" "g.42946359del" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "530delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686595" "1" "90" "6" "42932811" "42932811" "subst" "0" "02015" "PEX6_000153" "g.42932811A>G" "" "{PMID:Zhang 1999:10408779}, {DB:DVD}" "" "IVS15+2T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686596" "2" "90" "6" "42946074" "42946087" "del" "0.0000121824" "02015" "PEX6_000002" "g.42946074_42946087del" "" "{PMID:Matsumoto 2001:11355018}, {DB:DVD}" "" "800-813del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686597" "1" "50" "6" "42932200" "42932200" "subst" "0.383546" "00006" "PEX6_000041" "g.42932200G>T" "" "{PMID:Matsumoto 2001:11355018}" "" "" "" "Germline" "" "rs1129187" "0" "" "" "" "" "VUS" "" "0000686598" "1" "90" "6" "42933000" "42933000" "subst" "0" "00006" "PEX6_000009" "g.42933000G>A" "" "{PMID:Falkenberg 2017:29220678}" "" "" "" "De novo" "" "rs61753230" "0" "" "" "g.42965262G>A" "" "pathogenic (!)" "" "0000686599" "21" "90" "6" "42933000" "42933000" "subst" "0" "00006" "PEX6_000009" "g.42933000G>A" "" "{PMID:Falkenberg 2017:29220678}" "" "" "" "Germline" "" "rs61753230" "0" "" "" "g.42965262G>A" "" "pathogenic (!)" "" "0000686600" "1" "90" "6" "42933000" "42933000" "subst" "0" "00006" "PEX6_000009" "g.42933000G>A" "" "{PMID:Falkenberg 2017:29220678}" "" "" "" "De novo" "" "rs61753230" "0" "" "" "g.42965262G>A" "" "pathogenic (!)" "" "0000686601" "11" "90" "6" "42933000" "42933000" "subst" "0" "00006" "PEX6_000009" "g.42933000G>A" "" "{PMID:Falkenberg 2017:29220678}" "" "" "" "Germline" "" "rs61753230" "0" "" "" "g.42965262G>A" "" "pathogenic (!)" "" "0000686602" "1" "90" "6" "42933000" "42933000" "subst" "0" "00006" "PEX6_000009" "g.42933000G>A" "" "{PMID:Falkenberg 2017:29220678}" "" "" "" "Germline" "" "rs61753230" "0" "" "" "g.42965262G>A" "" "pathogenic (!)" "" "0000686603" "1" "90" "6" "42933000" "42933000" "subst" "0" "00006" "PEX6_000009" "g.42933000G>A" "" "{PMID:Falkenberg 2017:29220678}" "" "" "" "Germline" "" "rs61753230" "0" "" "" "g.42965262G>A" "" "pathogenic (!)" "" "0000686604" "21" "90" "6" "42933000" "42933000" "subst" "0" "00006" "PEX6_000009" "g.42933000G>A" "" "{PMID:Falkenberg 2017:29220678}" "" "" "" "Germline" "" "rs61753230" "0" "" "" "g.42965262G>A" "" "pathogenic (!)" "" "0000686605" "1" "70" "6" "42931628" "42931631" "del" "0" "00006" "PEX6_000000" "g.42931628_42931631del" "" "{PMID:Falkenberg 2017:29220678}" "" "*442_445delTAAA" "variant increasing total mRNA levels 3-5x" "Germline" "" "rs144286892" "0" "" "" "g.42963890_42963893del" "" "benign (!)" "" "0000686606" "21" "70" "6" "42931628" "42931631" "del" "0" "00006" "PEX6_000000" "g.42931628_42931631del" "" "{PMID:Falkenberg 2017:29220678}" "" "*442_445delTAAA" "variant increasing total mRNA levels 3-5x" "Germline" "" "rs144286892" "0" "" "" "g.42963890_42963893del" "" "benign (!)" "" "0000686607" "1" "70" "6" "42931628" "42931631" "del" "0" "00006" "PEX6_000000" "g.42931628_42931631del" "" "{PMID:Falkenberg 2017:29220678}" "" "*442_445delTAAA" "variant increasing total mRNA levels 3-5x" "Germline" "" "rs144286892" "0" "" "" "g.42963890_42963893del" "" "benign (!)" "" "0000686608" "11" "70" "6" "42931628" "42931631" "del" "0" "00006" "PEX6_000000" "g.42931628_42931631del" "" "{PMID:Falkenberg 2017:29220678}" "" "*442_445delTAAA" "variant increasing total mRNA levels 3-5x" "Germline" "" "rs144286892" "0" "" "" "g.42963890_42963893del" "" "benign (!)" "" "0000686609" "1" "70" "6" "42931628" "42931631" "del" "0" "00006" "PEX6_000000" "g.42931628_42931631del" "" "{PMID:Falkenberg 2017:29220678}" "" "*442_445delTAAA" "variant increasing total mRNA levels 3-5x" "Germline" "" "rs144286892" "0" "" "" "g.42963890_42963893del" "" "benign (!)" "" "0000686610" "1" "70" "6" "42931628" "42931631" "del" "0" "00006" "PEX6_000000" "g.42931628_42931631del" "" "{PMID:Falkenberg 2017:29220678}" "" "*442_445delTAAA" "variant increasing total mRNA levels 3-5x" "Germline" "" "rs144286892" "0" "" "" "g.42963890_42963893del" "" "benign (!)" "" "0000686611" "21" "70" "6" "42931628" "42931631" "del" "0" "00006" "PEX6_000000" "g.42931628_42931631del" "" "{PMID:Falkenberg 2017:29220678}" "" "*442_445delTAAA" "variant increasing total mRNA levels 3-5x" "Germline" "" "rs144286892" "0" "" "" "g.42963890_42963893del" "" "benign (!)" "" "0000686612" "1" "90" "6" "42933000" "42933000" "subst" "0" "00006" "PEX6_000009" "g.42933000G>A" "" "{PMID:Falkenberg 2017:29220678}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686613" "3" "70" "6" "42931628" "42931631" "del" "0" "00006" "PEX6_000000" "g.42931628_42931631del" "" "{PMID:Falkenberg 2017:29220678}" "" "" "homozygous variant so no allelic mRNA imbalance" "Germline" "" "rs144286892" "0" "" "" "" "" "benign (!)" "" "0000686614" "3" "10" "6" "42932202" "42932202" "subst" "0.476574" "00006" "PEX6_000128" "g.42932202C>T" "" "{PMID:Falkenberg 2017:29220678}" "" "PEX6_000040" "" "Germline" "" "rs1129186" "0" "" "" "" "" "benign" "" "0000686615" "3" "10" "6" "42932200" "42932200" "subst" "0.383546" "00006" "PEX6_000041" "g.42932200G>T" "" "{PMID:Falkenberg 2017:29220678}" "" "" "" "Germline" "" "rs1129187" "0" "" "" "" "" "benign" "" "0000686617" "21" "90" "6" "42934261" "42934261" "subst" "0" "02015" "PEX6_000032" "g.42934261A>G" "" "{PMID:Raas-Rothschild 2002:11873320}, {DB:DVD}" "" "IVS10+2T>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686619" "2" "50" "6" "42933044" "42933044" "subst" "0.0000284296" "02015" "PEX6_000033" "g.42933044A>G" "" "{PMID:Raas-Rothschild 2002:11873320}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000686620" "2" "51" "6" "42933464" "42933464" "subst" "0.0550619" "02015" "PEX6_000131" "g.42933464G>A" "" "{PMID:Raas-Rothschild 2002:11873320}" "" "" "" "Germline" "" "rs35830695" "0" "" "" "" "" "VUS" "" "0000686621" "3" "90" "6" "42937452" "42937459" "del" "0.0000852875" "02015" "PEX6_000079" "g.42937452_42937459del" "" "{PMID:Krause 2009:19142205}" "" "1314_1321delGGAGGCCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686622" "3" "90" "6" "42934534" "42934534" "del" "0.0000203044" "02015" "PEX6_000090" "g.42934534del" "" "{PMID:Krause 2009:19142205}" "" "1946delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686623" "1" "90" "6" "42934309" "42934309" "subst" "0" "02015" "PEX6_000093" "g.42934309A>G" "" "{PMID:Krause 2009:19142205}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686624" "3" "90" "6" "42934160" "42934160" "subst" "0.00000406131" "02015" "PEX6_000094" "g.42934160A>C" "" "{PMID:Krause 2009:19142205}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686625" "3" "90" "6" "42933782" "42933782" "subst" "0.0000162431" "02015" "PEX6_000001" "g.42933782C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686626" "1" "90" "6" "42946074" "42946087" "del" "0.0000121824" "02015" "PEX6_000002" "g.42946074_42946087del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686628" "1" "90" "6" "42933000" "42933000" "subst" "0" "02015" "PEX6_000009" "g.42933000G>A" "" "" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686629" "1" "50" "6" "42932999" "42932999" "subst" "0.0000203095" "02015" "PEX6_000015" "g.42932999C>T" "" "" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000686630" "3" "90" "6" "42935189" "42935189" "subst" "0.0000207187" "02015" "PEX6_000018" "g.42935189G>A" "" "{Baltimore 2006:Braverman}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "" "" 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(recessive)" "" "0000687353" "0" "90" "6" "42935188" "42935188" "subst" "0.00281403" "00006" "PEX6_000006" "g.42935188C>T" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687358" "0" "10" "6" "42946679" "42946679" "subst" "0.00610167" "00006" "PEX6_000235" "g.42946679C>T" "1/116 chromosomes" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42978941C>T" "" "benign" "" "0000687359" "0" "10" "6" "42946654" "42946654" "subst" "0.0246353" "00006" "GNMT_000006" "g.42946654C>G" "0.02" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42978916C>G" "" "benign" "" "0000687360" "0" "10" "6" "42946490" "42946490" "subst" "0.376405" "00006" "PEX6_000146" "g.42946490C>A" "0.37" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42978752C>A" "" "benign" "" "0000687361" "0" "10" "6" "42946076" "42946076" "subst" "0.0013726" "00006" "PEX6_000143" "g.42946076C>A" "1/116 chromosomes" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42978338C>A" "" "benign" "" "0000687362" "0" "10" "6" "42935188" "42935188" "subst" "0.00281403" "00006" "PEX6_000006" "g.42935188C>T" "0.03" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42967450C>T" "" "benign" "" "0000687363" "0" "10" "6" "42933526" "42933526" "subst" "0.090081" "00006" "PEX6_000047" "g.42933526C>T" "0.04" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42965788C>T" "" "benign" "" "0000687364" "0" "10" "6" "42933464" "42933464" "subst" "0.0550619" "00006" "PEX6_000131" "g.42933464G>A" "0.03" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42965726G>A" "" "benign" "" "0000687365" "0" "10" "6" "42932835" "42932835" "subst" "0.0227491" "00006" "PEX6_000149" "g.42932835C>T" "0.03" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42965097C>T" "" "benign" "" "0000687366" "0" "10" "6" "42932564" "42932564" "subst" "0.00146748" "00006" "PEX6_000129" "g.42932564C>A" "1/116 chromosomes" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42964826C>A" "" "benign" "" "0000687367" "0" "10" "6" "42932202" "42932202" "subst" "0.476574" "00006" "PEX6_000128" "g.42932202C>T" "0.43" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42964464C>T" "" "benign" "" "0000687368" "0" "10" "6" "42932200" "42932200" "subst" "0.383546" "00006" "PEX6_000041" "g.42932200G>T" "0.35" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.42964462G>T" "" "benign" "" "0000689740" "0" "50" "6" "42936109" "42936109" "subst" "0.000143496" "01943" "CNPY3_000008" "g.42936109C>T" "" "" "" "PEX6(NM_000287.3):c.1607G>A (p.R536Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712566" "11" "90" "6" "42935188" "42935188" "subst" "0.00281403" "03980" "PEX6_000006" "g.42935188C>T" "" "Doucette 2021, submitted" "" "" "This variant was noted as heterozygous in this patient. The variant is previously associated with Heimler syndrome, a peroxisomal biogenesis disorder. Possible explanation for this patient, however a second variant in PEX6 is yet to be identified." "Germline" "yes" "rs34324426" "0" "" "" "" "{CVvar:198709}" "pathogenic (recessive)" "" ## 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 PEX6 ## Count = 267 "{{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}}" "0000079032" "00015987" "70" "1238" "0" "1238" "0" "c.1238G>T" "r.(?)" "p.(Gly413Val)" "5" "0000080490" "00015987" "70" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Ala912Val)" "16" "0000080491" "00015987" "70" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Ala912Val)" "16" "0000097106" "00015987" "90" "1930" "0" "1930" "0" "c.1930C>T" "r.(?)" "p.(Arg644Trp)" "12" "0000097107" "00015987" "90" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "5" "0000097108" "00015987" "90" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "5" "0000097109" "00015987" "90" "1930" "0" "1930" "0" "c.1930C>T" "r.(?)" "p.(Arg644Trp)" "12" "0000097110" "00015987" "90" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "10" "0000097111" "00015987" "90" "1841" "0" "1841" "0" "c.1841del" "r.(?)" "p.(Leu614Argfs*5)" "11" "0000097112" "00015987" "90" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "10" "0000097113" "00015987" "90" "1841" "0" "1841" "0" "c.1841del" "r.(?)" "p.(Leu614Argfs*5)" "11" "0000130027" "00015987" "90" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "" "0000164217" "00015987" "90" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.Pro274Leu" "5" "0000164218" "00015987" "90" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.Arg601Gln" "10" "0000164219" "00015987" "90" "1841" "0" "1841" "0" "c.1841del" "r.(?)" "p.Leu614Argfs*5" "11" "0000164220" "00015987" "90" "1930" "0" "1930" "0" "c.1930C>T" "r.(?)" "p.Arg644Trp" "12" "0000249097" "00015987" "10" "883" "-3" "883" "-3" "c.883-3T>C" "r.spl?" "p.?" "" "0000255016" "00015987" "30" "1509" "0" "1509" "0" "c.1509T>C" "r.(?)" "p.(Ser503=)" "" "0000256621" "00015987" "50" "1706" "0" "1706" "0" "c.1706T>C" "r.(?)" "p.(Val569Ala)" "" "0000281101" "00015987" "10" "3755" "0" "3755" "0" "c.*812G>C" "r.(=)" "p.(=)" "" "0000296914" "00015987" "50" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Thr573Ile)" "" "0000296916" "00015987" "10" "1961" "20" "1961" "20" "c.1961+20G>A" "r.(=)" "p.(=)" "" "0000296917" "00015987" "30" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ala809Val)" "" "0000296918" "00015987" "10" "2814" "0" "2814" "0" "c.2814G>A" "r.(?)" "p.(Glu938=)" "" "0000296919" "00015987" "10" "2816" "0" "2816" "0" "c.2816C>A" "r.(?)" "p.(Pro939Gln)" "" "0000296920" "00015987" "10" "399" "0" "399" "0" "c.399G>T" "r.(?)" "p.(Val133=)" "" "0000296921" "00015987" "30" "531" "0" "531" "0" "c.531A>C" "r.(?)" "p.(Pro177=)" "" "0000296922" "00015987" "30" "853" "0" "853" "0" "c.853C>G" "r.(?)" "p.(Pro285Ala)" "" "0000300726" "00015987" "10" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ala809Val)" "" "0000305494" "00015987" "30" "1680" "0" "1680" "0" "c.1680C>T" "r.(?)" "p.(Pro560=)" "" "0000305495" "00015987" "50" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Thr573Ile)" "" "0000305497" "00015987" "90" "2362" "0" "2362" "0" "c.2362G>A" "r.(?)" "p.(Val788Met)" "" "0000305498" "00015987" "30" "2436" "0" "2436" "0" "c.2436G>A" "r.(?)" "p.(Arg812=)" "" "0000305499" "00015987" "10" "2770" "0" "2770" "0" "c.2770G>T" "r.(?)" "p.(Ala924Ser)" "" "0000305500" "00015987" "30" "407" "0" "407" "0" "c.407C>A" "r.(?)" "p.(Pro136Gln)" "" "0000305501" "00015987" "10" "813" "0" "813" "0" "c.813G>T" "r.(?)" "p.(Ala271=)" "" "0000305502" "00015987" "30" "903" "0" "903" "0" "c.903C>T" "r.(?)" "p.(Ile301=)" "" "0000331024" "00015987" "50" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Ala979Val)" "" "0000331025" "00015987" "50" "2357" "0" "2357" "0" "c.2357G>A" "r.(?)" "p.(Arg786Gln)" "" "0000331026" "00015987" "50" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Ala549Val)" "" "0000343390" "00015987" "90" "2435" "0" "2435" "0" "c.2435G>A" "r.(?)" "p.(Arg812Gln)" "" "0000439816" "00015987" "50" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Val882Ile)" "" "0000528870" "00015987" "10" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Ala979Val)" "" "0000528872" "00015987" "30" "2604" "0" "2604" "0" "c.2604G>A" "r.(?)" "p.(Val868=)" "" "0000528873" "00015987" "50" "2137" "0" "2137" "0" "c.2137G>T" "r.(?)" "p.(Val713Leu)" "" "0000528875" "00015987" "10" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Ala549Val)" "" "0000528876" "00015987" "50" "1565" "0" "1565" "0" "c.1565G>C" "r.(?)" "p.(Arg522Pro)" "" "0000528877" "00015987" "10" "1480" "-5" "1480" "-5" "c.1480-5C>T" "r.spl?" "p.?" "" "0000528878" "00015987" "50" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Glu391Lys)" "" "0000528879" "00015987" "90" "1027" "0" "1027" "0" "c.1027del" "r.(?)" "p.(Arg343GlyfsTer8)" "" "0000528880" "00015987" "30" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(His330Tyr)" "" "0000528881" "00015987" "30" "925" "0" "925" "0" "c.925T>G" "r.(?)" "p.(Cys309Gly)" "" "0000528882" "00015987" "50" "853" "0" "853" "0" "c.853C>G" "r.(?)" "p.(Pro285Ala)" "" "0000528883" "00015987" "50" "685" "0" "685" "0" "c.685A>G" "r.(?)" "p.(Arg229Gly)" "" "0000528885" "00015987" "30" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Leu9=)" "" "0000610353" "00015987" "30" "3593" "0" "3593" "0" "c.*650G>A" "r.(=)" "p.(=)" "" "0000610354" "00015987" "90" "814" "0" "817" "0" "c.814_817dup" "r.(?)" "p.(Val273AlafsTer9)" "" "0000621710" "00015987" "30" "531" "0" "531" "0" "c.531A>C" "r.(?)" "p.(Pro177=)" "" "0000621711" "00015987" "50" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Pro101Leu)" "" "0000639255" "00015987" "99" "1962" "-1" "1962" "-1" "c.1962-1G>A" "r.spl?" "p.?" "9i" "0000640191" "00015987" "90" "2472" "0" "2807" "0" "c.(2471+1_2472-1)_(2806+1_2807-1)del" "r.?" "p.?" "13i_16i" "0000640193" "00015987" "90" "2666" "2" "2666" "2" "c.2666+2T>C" "r.spl" "p.?" "15i" "0000640194" "00015987" "99" "2663" "0" "2663" "0" "c.2663G>C" "r.(?)" "p.(Arg888Pro)" "15" "0000640197" "00015987" "90" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Arg860Gln)" "14" "0000640198" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" "14" "0000640199" "00015987" "90" "2546" "0" "2546" "0" "c.2546A>C" "r.(?)" "p.(Asn849Thr)" "14" "0000640200" "00015987" "97" "1715" "0" "1715" "0" "c.1715C>T" "r.1715c>u" "p.Thr572Ile" "" "0000640201" "00015987" "90" "2482" "0" "2482" "0" "c.2482C>T" "r.(?)" "p.(Gln828*)" "14" "0000640202" "00015987" "90" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "13" "0000640203" "00015987" "90" "2435" "0" "2435" "0" "c.2435G>A" "r.2435g>a" "p.Arg812Gln" "13" "0000640204" "00015987" "90" "2434" "0" "2434" "0" "c.2434C>T" "r.2434c>u" "p.Arg812Trp" "13" "0000640205" "00015987" "90" "2398" "0" "2417" "0" "c.2398_2417delinsT" "r.(?)" "p.(Ile800Serfs*16)" "13" "0000640206" "00015987" "90" "2362" "0" "2362" "0" "c.2362G>A" "r.[2095_23623delins2094+1_2094+21]" "p.Ile699fs" "12" "0000640209" "00015987" "90" "2301" "-15" "2301" "-15" "c.2301-15C>G" "r.spl" "p.?" "11i" "0000640213" "00015987" "90" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ala809Val)" "" "0000640215" "00015987" "90" "2094" "2" "2094" "2" "c.2094+2T>C" "r.2094_2095ins[gc;2094+3_2095-1]" "p.?" "10i" "0000640216" "00015987" "90" "2434" "0" "2434" "0" "c.2434C>T" "r.(?)" "p.(Arg812Trp)" "" "0000640224" "00015987" "90" "1801" "0" "1801" "0" "c.1801C>T" "r.(?)" "p.(Arg601Trp)" "8" "0000640226" "00015987" "77" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Thr573Ile)" "8" "0000640227" "00015987" "90" "1715" "0" "1715" "0" "c.1715C>T" "r.1715c>u" "p.Thr572Ile" "8" "0000640230" "00015987" "90" "1688" "1" "1688" "1" "c.1688+1G>A" "r.[1480_1866del,1368_1866del]" "p.?" "7i" "0000640231" "00015987" "99" "1601" "0" "1601" "0" "c.1601T>C" "r.(?)" "p.(Leu534Pro)" "7" "0000640238" "00015987" "99" "1338" "0" "1339" "0" "c.1338_1339del" "r.(?)" "p.(Ala447Cysfs*17)" "5" "0000640240" "00015987" "90" "1301" "0" "1301" "0" "c.1301del" "r.1301del" "p.Ser434Phefs*16" "5" "0000640243" "00015987" "90" "1130" "1" "1130" "1" "c.1130+1G>A" "r.1047_1130del" "p.Val350_Arg377del" "3i" "0000640244" "00015987" "99" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Gln352*)" "3" "0000640245" "00015987" "99" "1047" "-1" "1047" "-1" "c.1047-1G>A" "r.spl?" "p.?" "2i" "0000640246" "00015987" "90" "1047" "-2" "1047" "-2" "c.1047-2A>G" "r.spl" "p.?" "2i" "0000640247" "00015987" "90" "914" "0" "914" "0" "c.914del" "r.(?)" "p.(Asp305Alafs*46)" "2" "0000640248" "00015987" "90" "883" "-2" "883" "-2" "c.883-2A>G" "r.[883_1046del,883_884del]" "p.?" "1i" "0000640253" "00015987" "90" "814" "0" "817" "0" "c.814_817dup" "r.814_817dup" "p.Val273Alafs*9" "1" "0000640254" "00015987" "99" "802" "0" "815" "0" "c.802_815del" "r.(?)" "p.(Asp268Cysfs*8)" "1" "0000640255" "00015987" "90" "727" "0" "727" "0" "c.727C>T" "r.727c>u" "p.Gln243*" "1" "0000640256" "00015987" "99" "691" "0" "692" "0" "c.691_692insAG" "r.(?)" "p.(Ser231*)" "1" "0000640257" "00015987" "99" "689" "0" "690" "0" "c.689_690insAG" "r.(?)" "p.(Ser231Glyfs*16)" "1" "0000640259" "00015987" "99" "689" "0" "690" "0" "c.689_690dup" "r.(?)" "p.(Ser232Hisfs*15)" "1" "0000640260" "00015987" "77" "661" "0" "661" "0" "c.661G>T" "r.(?)" "p.(Glu221*)" "1" "0000640264" "00015987" "99" "611" "0" "611" "0" "c.611C>G" "r.(?)" "p.(Ser204*)" "1" "0000640266" "00015987" "90" "1688" "1" "1688" "1" "c.1688+1G>A" "r.[1480_1866del,1368_1866del]" "p.?" "" "0000640268" "00015987" "90" "510" "0" "510" "0" "c.510dup" "r.510dup" "p.Gly171Trpfs*71" "1" "0000640269" "00015987" "77" "488" "0" "488" "0" "c.488G>C" "r.(?)" "p.(Arg163Pro)" "1" "0000640270" "00015987" "90" "402" "0" "402" "0" "c.402del" "r.402del" "p.Gly135Aspfs*23" "1" "0000640271" "00015987" "90" "311" "0" "311" "0" "c.311del" "r.(?)" "p.(Gly104Valfs*22)" "1" "0000640272" "00015987" "10" "2364" "0" "2364" "0" "c.2364G>A" "r.(?)" "p.(=)" "" "0000640273" "00015987" "90" "10" "0" "69" "0" "c.10_69del" "r.(?)" "p.(Ala4_Leu23del)" "1" "0000640274" "00015987" "90" "275" "0" "280" "0" "c.275_280del" "r.275_280del" "p.Val92_Arg93del" "1" "0000640276" "00015987" "90" "170" "0" "170" "0" "c.170T>C" "r.170u>c" "p.Leu57Pro" "1" "0000640277" "00015987" "99" "115" "0" "120" "0" "c.115_120del" "r.(?)" "p.(Ala39_Leu40del)" "1" "0000640278" "00015987" "10" "813" "0" "813" "0" "c.813G>T" "r.(=)" "p.(=)" "" "0000647289" "00015987" "70" "2702" "0" "2702" "0" "c.2702del" "r.(?)" "p.(Val901GlyfsTer2)" "" "0000651965" "00015987" "10" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Val882Ile)" "" "0000651966" "00015987" "90" "1338" "0" "1339" "0" "c.1338_1339del" "r.(?)" "p.(Ala447Cysfs*17)" "" "0000651967" "00015987" "70" "661" "0" "661" "0" "c.661G>T" "r.(?)" "p.(Glu221Ter)" "" "0000655592" "00015987" "30" "37656" "0" "37658" "0" "c.*34713_*34715del" "r.(=)" "p.(=)" "" "0000655593" "00015987" "30" "3684" "0" "3684" "0" "c.*741G>A" "r.(=)" "p.(=)" "" "0000655594" "00015987" "50" "302" "0" "302" "0" "c.302C>G" "r.(?)" "p.(Pro101Arg)" "" "0000669919" "00015987" "10" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Val882Ile)" "" "0000677780" "00015987" "50" "740" "0" "740" "0" "c.740C>G" "r.(?)" "p.(Pro247Arg)" "" "0000685354" "00015987" "90" "1715" "0" "1715" "0" "c.1715C>T" "r.(?)" "p.(Thr572Ile)" "" "0000686583" "00015987" "10" "330" "0" "330" "0" "c.330C>G" "r.(=)" "p.(=)" "" "0000686584" "00015987" "10" "399" "0" "399" "0" "c.399G>T" "r.(=)" "p.(=)" "" "0000686593" "00015987" "90" "1962" "-1" "1962" "-1" "c.1962-1G>A" "r.1962_1969del" "p.Leu655Trpfs*4" "" "0000686594" "00015987" "90" "530" "0" "530" "0" "c.530del" "r.(?)" "p.(Pro177Hisfs*29)" "" "0000686595" "00015987" "90" "2666" "2" "2666" "2" "c.2666+2T>C" "r.2589_2666del" "p.Phe864_Lys889del" "" "0000686596" "00015987" "90" "802" "0" "815" "0" "c.802_815del" "r.619_882del" "p.Val76_Gln294del" "" "0000686597" "00015987" "50" "2816" "0" "2816" "0" "c.2816C>A" "r.2816c>a" "p.Pro939Gln" "" "0000686598" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.2578c>u" "p.Arg860Trp" "" "0000686599" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.2578c>u" "p.Arg860Trp" "" "0000686600" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.2578c>u" "p.Arg860Trp" "" "0000686601" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.2578c>u" "p.Arg860Trp" "" "0000686602" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.2578c>u" "p.Arg860Trp" "" "0000686603" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.2578c>u" "p.Arg860Trp" "" "0000686604" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.2578c>u" "p.Arg860Trp" "" "0000686605" "00015987" "70" "3385" "0" "3388" "0" "c.*442_*445del" "r.*328_*462del" "p.=" "" "0000686606" "00015987" "70" "3385" "0" "3388" "0" "c.*442_*445del" "r.*328_*462del" "p.=" "" "0000686607" "00015987" "70" "3385" "0" "3388" "0" "c.*442_*445del" "r.*328_*462del" "p.=" "" "0000686608" "00015987" "70" "3385" "0" "3388" "0" "c.*442_*445del" "r.*328_*462del" "p.=" "" "0000686609" "00015987" "70" "3385" "0" "3388" "0" "c.*442_*445del" "r.*328_*462del" "p.=" "" "0000686610" "00015987" "70" "3385" "0" "3388" "0" "c.*442_*445del" "r.*328_*462del" "p.=" "" "0000686611" "00015987" "70" "3385" "0" "3388" "0" "c.*442_*445del" "r.*328_*462del" "p.=" "" "0000686612" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.2578c>u" "p.Arg860Trp" "" "0000686613" "00015987" "70" "3385" "0" "3388" "0" "c.*442_*445del" "r.*328_*462del" "p.=" "" "0000686614" "00015987" "10" "2814" "0" "2814" "0" "c.2814G>A" "r.2814g>a" "p.Glu938=" "" "0000686615" "00015987" "10" "2816" "0" "2816" "0" "c.2816C>A" "r.2816c>a" "p.Pro939Gln" "" "0000686617" "00015987" "90" "2094" "2" "2094" "2" "c.2094+2T>C" "r.2094_2095ins[gc;2094+3_2095-1]" "p.?" "" "0000686619" "00015987" "50" "2534" "0" "2534" "0" "c.2534T>C" "r.2534u>c" "p.Ile845Thr" "" "0000686620" "00015987" "51" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ala809Val)" "" "0000686621" "00015987" "90" "1314" "0" "1321" "0" "c.1314_1321del" "r.(?)" "p.(Glu439Glyfs*3)" "5" "0000686622" "00015987" "90" "1947" "0" "1947" "0" "c.1947del" "r.(?)" "p.(Ile650Serfs*10)" "9" "0000686623" "00015987" "90" "2048" "0" "2048" "0" "c.2048T>C" "r.(?)" "p.(Leu683Pro)" "10" "0000686624" "00015987" "90" "2120" "0" "2120" "0" "c.2120T>G" "r.(?)" "p.(Val707Gly)" "10" "0000686625" "00015987" "90" "2362" "0" "2362" "0" "c.2362G>A" "r.(?)" "p.(Val788Met)" "12" "0000686626" "00015987" "90" "802" "0" "815" "0" "c.802_815del" "r.(?)" "p.(Asp268Cysfs*8)" "1" "0000686628" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" "14" "0000686629" "00015987" "50" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Arg860Gln)" "14" "0000686630" "00015987" "90" "1801" "0" "1801" "0" "c.1801C>T" "r.(?)" "p.(Arg601Trp)" "8" "0000686631" "00015987" "90" "311" "0" "311" "0" "c.311del" "r.(?)" "p.(Gly104Valfs*22)" "1" "0000686632" "00015987" "10" "-55" "0" "-55" "0" "c.-55C>T" "r.(?)" "p.(=)" "1" "0000686635" "00015987" "50" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Ala549Val)" "7" "0000686637" "00015987" "90" "2362" "0" "2362" "0" "c.2362G>A" "r.2362g>a" "p.Val788Met" "12" "0000686638" "00015987" "90" "802" "0" "815" "0" "c.802_815del" "r.802_815del" "p.Asp268Cysfs*8" "1" "0000686639" "00015987" "90" "2788" "0" "2788" "0" "c.2788del" "r.2788del" "p.Val930Phefs*15" "16" "0000686640" "00015987" "90" "10" "0" "69" "0" "c.10_69del" "r.(?)" "p.(Ala4_Leu23del)" "1" "0000686641" "00015987" "90" "802" "0" "815" "0" "c.802_815del" "r.802_815del" "p.Asp268Cysfs*8" "1" "0000686642" "00015987" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" "14" "0000686644" "00015987" "90" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Ala912Val)" "16" "0000686645" "00015987" "90" "2095" "-21" "2095" "-10" "c.2095-21_2095-10del" "r.spl" "p.Ile699fs" "10" "0000686646" "00015987" "90" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "8" "0000686647" "00015987" "90" "10" "0" "69" "0" "c.10_69del" "r.(?)" "p.(Ala4_Leu23del)" "1" "0000686648" "00015987" "90" "283" "0" "288" "0" "c.283_288del" "r.283_288del" "p.Arg95_Ala96del" "1" "0000686649" "00015987" "90" "1027" "0" "1030" "0" "c.1027_1030dup" "r.(?)" "p.(His344Profs*42)" "3" "0000686650" "00015987" "10" "0" "0" "0" "0" "-" "-" "-" "_1" "0000686651" "00015987" "10" "883" "-3" "883" "-3" "c.883-3T>C" "r.(?)" "p.(-)" "1i" "0000686652" "00015987" "10" "1961" "20" "1961" "20" "c.1961+20G>A" "r.(=)" "p.(=)" "9" "0000686653" "00015987" "90" "2362" "0" "2362" "0" "c.2362G>A" "r.(?)" "p.(Val788Met)" "12" "0000686654" "00015987" "10" "235" "0" "235" "0" "c.235G>C" "r.(?)" "p.(Ala79Pro)" "1" "0000686655" "00015987" "90" "281" "0" "281" "0" "c.281C>A" "r.(?)" "p.(Ala94Glu)" "1" "0000686656" "00015987" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Phe12Ser)" "" "0000686657" "00015987" "90" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "" "0000686658" "00015987" "90" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(Ser173Alafs*33)" "1" "0000686659" "00015987" "10" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ala809Val)" "1" "0000686660" "00015987" "10" "399" "0" "399" "0" "c.399G>T" "r.(?)" "p.(=)" "" "0000686661" "00015987" "90" "689" "0" "690" "0" "c.689_690dup" "r.(?)" "p.(Ser232Hisfs*15)" "1" "0000686662" "00015987" "90" "689" "0" "690" "0" "c.689_690dup" "r.(?)" "p.(Ser232Hisfs*15)" "1" "0000686663" "00015987" "90" "2362" "0" "2362" "0" "c.2362G>A" "r.(?)" "p.(Val788Met)" "" "0000686664" "00015987" "90" "1415" "0" "1415" "0" "c.1415dup" "r.(?)" "p.(Gly473Argfs*13)" "6" "0000686665" "00015987" "90" "115" "0" "120" "0" "c.115_120del" "r.(?)" "p.(Ala39_Leu40del)" "1" "0000686666" "00015987" "90" "224" "0" "224" "0" "c.224dup" "r.(?)" "p.(Val76Glyfs*2)" "1" "0000686667" "00015987" "90" "277" "0" "277" "0" "c.277C>G" "r.(?)" "p.(Arg93Gly)" "1" "0000686668" "00015987" "90" "557" "0" "557" "0" "c.557C>A" "r.(?)" "p.(Ala186Glu)" "1" "0000686669" "00015987" "90" "656" "0" "656" "0" "c.656del" "r.(?)" "p.(Gln219Argfs*27)" "1" "0000686670" "00015987" "90" "659" "0" "659" "0" "c.659G>T" "r.(?)" "p.(Gly220Val)" "1" "0000686671" "00015987" "90" "867" "0" "867" "0" "c.867del" "r.(?)" "p.(Glu290Serfs*61)" "1" "0000686672" "00015987" "90" "656" "0" "656" "0" "c.656A>C" "r.(?)" "p.(Gln219Pro)" "1" "0000686673" "00015987" "90" "689" "0" "690" "0" "c.689_690del" "r.(?)" "p.(Glu230Valfs*11)" "1" "0000686674" "00015987" "90" "856" "0" "856" "0" "c.856del" "r.(?)" "p.(Leu286Trpfs*65)" "1" "0000686675" "00015987" "90" "883" "0" "1131" "0" "c.(882+1_883-1)_(1130+1_1131-1)del" "r.(?)" "p.?" "1i_3i" "0000686676" "00015987" "90" "1047" "-1" "1047" "-1" "c.1047-1G>A" "r.spl" "p.?" "2i" "0000686677" "00015987" "90" "" "0" "" "0" "c.1047-2 A>G" "r.(?)" "p.?" "3" "0000686678" "00015987" "90" "1054" "0" "1054" "0" "c.1054C>T" "r.1047_1130del" "p.Val350_Arg377del" "3" "0000686679" "00015987" "90" "1131" "-1" "1131" "-1" "c.1131-1G>C" "r.spl" "p.?" "3i" "0000686680" "00015987" "90" "1198" "0" "1198" "0" "c.1198T>A" "r.(?)" "p.(Tyr400Asn)" "4" "0000686681" "00015987" "90" "1367" "1" "1367" "1" "c.1367+1del" "r.spl" "p.?" "5i" "0000686682" "00015987" "90" "1404" "0" "1404" "0" "c.1404del" "r.(?)" "p.(Arg469Glyfs*11)" "6" "0000686683" "00015987" "90" "1495" "0" "1495" "0" "c.1495del" "r.(?)" "p.(Leu499Serfs*49)" "7" "0000686684" "00015987" "90" "1532" "0" "1532" "0" "c.1532T>G" "r.(?)" "p.(Leu511Arg)" "7" "0000686685" "00015987" "90" "1553" "0" "1553" "0" "c.1553C>A" "r.(?)" "p.(Ala518Asp)" "7" "0000686686" "00015987" "90" "1689" "-1" "1689" "-1" "c.1689-1G>T" "r.spl" "p.?" "7i" "0000686687" "00015987" "90" "1711" "0" "1711" "0" "c.1711G>A" "r.(?)" "p.(Ala571Thr)" "8" "0000686688" "00015987" "90" "1793" "0" "1794" "0" "c.1793_1794del" "r.(?)" "p.(Glu598Glyfs*63)" "8" "0000686689" "00015987" "90" "1814" "0" "1814" "0" "c.1814T>G" "r.(?)" "p.(Leu605Arg)" "8" "0000686690" "00015987" "90" "1958" "0" "1958" "0" "c.1958C>G" "r.(?)" "p.(Ser653*)" "9" "0000686691" "00015987" "90" "1992" "0" "1992" "0" "c.1992G>C" "r.(?)" "p.(Glu664Asp)" "10" "0000686692" "00015987" "90" "2095" "-2" "2095" "-2" "c.2095-2A>G" "r.spl" "p.?" "10i" "0000686693" "00015987" "90" "2207" "0" "2217" "0" "c.2207_2217del" "r.(?)" "p.(Arg736Thrfs*21)" "11" "0000686694" "00015987" "90" "2225" "0" "2225" "0" "c.2225T>C" "r.(?)" "p.(Leu742Pro)" "11" "0000686695" "00015987" "90" "2301" "-5" "2301" "-5" "c.2301-5C>G" "r.spl?" "p.?" "12" "0000686696" "00015987" "90" "2300" "28" "2300" "28" "c.2300+28G>A" "r.spl" "p.?" "12" "0000686697" "00015987" "90" "2356" "0" "2356" "0" "c.2356C>T" "r.(?)" "p.(Arg786Trp)" "12" "0000686698" "00015987" "90" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814*)" "13" "0000686699" "00015987" "90" "2482" "0" "2482" "0" "c.2482C>T" "r.(?)" "p.(Gln828*)" "14" "0000686700" "00015987" "90" "2591" "0" "2591" "0" "c.2591T>C" "r.(?)" "p.(Phe864Ser)" "15" "0000686701" "00015987" "90" "2602" "0" "2603" "0" "c.2602_2603ins(350)" "r.(?)" "p.(Val868Aspfs*7)" "15" "0000686702" "00015987" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Arg876Trp)" "15" "0000686703" "00015987" "90" "2663" "0" "2663" "0" "c.2663G>C" "r.(?)" "p.?" "15" "0000686704" "00015987" "90" "2667" "-2" "2667" "-2" "c.2667-2A>G" "r.spl" "p.?" "15i" "0000686705" "00015987" "90" "2726" "0" "2726" "0" "c.2726T>A" "r.(?)" "p.(Leu909Gln)" "16" "0000686706" "00015987" "90" "2807" "-2" "2807" "-2" "c.2807-2A>G" "r.spl" "p.?" "16i" "0000686709" "00015987" "70" "2095" "-21" "2095" "-10" "c.2095-21_2095-10del" "r.spl?" "p.?" "" "0000686710" "00015987" "90" "2398" "0" "2417" "0" "c.2398_2417delinsT" "r.(?)" "p.(Ile800Serfs*16)" "" "0000686711" "00015987" "90" "882" "1" "882" "1" "c.882+1G>A" "r.spl" "p.?" "" "0000686712" "00015987" "90" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "" "0000686713" "00015987" "90" "311" "0" "311" "0" "c.311del" "r.(?)" "p.(Gly104Valfs*22)" "" "0000686714" "00015987" "90" "126" "0" "217" "0" "c.126_217del" "r.(?)" "p.(Gly44Thrfs*3)" "" "0000686715" "00015987" "90" "2398" "0" "2417" "0" "c.2398_2417delinsT" "r.(?)" "p.(Ile800Serfs*16)" "" "0000686716" "00015987" "90" "126" "0" "217" "0" "c.126_217del" "r.(?)" "p.(Gly44Thrfs*3)" "1" "0000686717" "00015987" "90" "126" "0" "217" "0" "c.126_217del" "r.(?)" "p.(Gly44Thrfs*3)" "1" "0000686720" "00015987" "90" "283" "0" "288" "0" "c.283_288del" "r.283_288del" "p.Arg95_Ala96del" "" "0000686722" "00015987" "90" "853" "0" "853" "0" "c.853C>G" "r.(?)" "p.(Pro285Ala)" "" "0000686723" "00015987" "90" "500" "0" "501" "0" "c.500_501del" "r.(?)" "p.(Cys167Serfs*74)" "" "0000686724" "00015987" "90" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Arg860Gln)" "" "0000686725" "00015987" "90" "1801" "0" "1801" "0" "c.1801C>T" "r.1801c>u" "p.Arg601Trp" "" "0000686726" "00015987" "90" "2472" "-2" "2472" "-2" "c.2472-2A>G" "r.spl" "p.?" "" "0000686727" "00015987" "90" "914" "0" "914" "0" "c.914del" "r.(?)" "p.(Asp305Alafs*46)" "" "0000686728" "00015987" "90" "1314" "0" "1320" "0" "c.1314_1320del" "r.(?)" "p.(Glu439Trpfs*9)" "" "0000687278" "00015987" "90" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "" "0000687279" "00015987" "90" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "" "0000687280" "00015987" "90" "1962" "-1" "1962" "-1" "c.1962-1G>A" "r.spl" "p.?" "" "0000687281" "00015987" "50" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Ala549Val)" "" "0000687316" "00015987" "90" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "8" "0000687317" "00015987" "90" "882" "1" "882" "1" "c.882+1G>A" "r.spl" "p.?" "1i" "0000687345" "00015987" "90" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Arg860Gln)" "14" "0000687346" "00015987" "90" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "1" "0000687353" "00015987" "90" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "" "0000687358" "00015987" "10" "210" "0" "210" "0" "c.210G>A" "r.(?)" "p.(Gly70=)" "" "0000687359" "00015987" "10" "235" "0" "235" "0" "c.235G>C" "r.(?)" "p.(Ala79Pro)" "" "0000687360" "00015987" "10" "399" "0" "399" "0" "c.399G>T" "r.(?)" "p.(Val133=)" "" "0000687361" "00015987" "10" "813" "0" "813" "0" "c.813G>T" "r.(?)" "p.(Ala271=)" "" "0000687362" "00015987" "10" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "" "0000687363" "00015987" "10" "2364" "0" "2364" "0" "c.2364G>A" "r.(?)" "p.(Val788=)" "" "0000687364" "00015987" "10" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Ala809Val)" "" "0000687365" "00015987" "10" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Val882Ile)" "" "0000687366" "00015987" "10" "2770" "0" "2770" "0" "c.2770G>T" "r.(?)" "p.(Ala924Ser)" "" "0000687367" "00015987" "10" "2814" "0" "2814" "0" "c.2814G>A" "r.(?)" "p.(Glu938=)" "" "0000687368" "00015987" "10" "2816" "0" "2816" "0" "c.2816C>A" "r.(?)" "p.(Pro939Gln)" "" "0000689740" "00015987" "50" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Arg536Gln)" "" "0000712566" "00015987" "90" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 216 "{{screeningid}}" "{{variantid}}" "0000050072" "0000079032" "0000051441" "0000080490" "0000051442" "0000080491" "0000065424" "0000097106" "0000065424" "0000097107" "0000065425" "0000097108" "0000065425" "0000097109" "0000065426" "0000097110" "0000065426" "0000097111" "0000065427" "0000097112" "0000065427" "0000097113" "0000080941" "0000130027" "0000209648" "0000439816" "0000283513" "0000639255" "0000284449" "0000640191" "0000284451" "0000640193" "0000284452" "0000640194" "0000284455" "0000640197" "0000284455" "0000687278" "0000284456" "0000640198" "0000284457" "0000640199" "0000284457" "0000687279" "0000284458" "0000640200" "0000284458" "0000686617" "0000284459" "0000640201" "0000284460" "0000640202" "0000284461" "0000640203" "0000284461" "0000686595" "0000284462" "0000640204" "0000284463" "0000640205" "0000284463" "0000686593" "0000284464" "0000640206" "0000284464" "0000686596" "0000284464" "0000686597" "0000284467" "0000640209" "0000284471" "0000640213" "0000284473" "0000640215" "0000284473" "0000686619" "0000284473" "0000686620" "0000284474" "0000640216" "0000284482" "0000640224" "0000284484" "0000640226" "0000284485" "0000640227" "0000284488" "0000640230" "0000284489" "0000640231" "0000284496" "0000640238" "0000284498" "0000640240" "0000284501" "0000640243" "0000284502" "0000640244" "0000284503" "0000640245" "0000284504" "0000640246" "0000284505" "0000640247" "0000284505" "0000687280" "0000284505" "0000687281" "0000284506" "0000640248" "0000284511" "0000640253" "0000284512" "0000640254" "0000284513" "0000640255" "0000284514" "0000640256" "0000284515" "0000640257" "0000284517" "0000640259" "0000284518" "0000640260" "0000284522" "0000640264" "0000284524" "0000640266" "0000284526" "0000640268" "0000284527" "0000640269" "0000284528" "0000640270" "0000284529" "0000640271" "0000284530" "0000640272" "0000284531" "0000640273" "0000284531" "0000686717" "0000284532" "0000640274" "0000284532" "0000686594" "0000284534" "0000640276" "0000284535" "0000640277" "0000284536" "0000640278" "0000290603" "0000647289" "0000295276" "0000651965" "0000295277" "0000651966" "0000295278" "0000651967" "0000306231" "0000669919" "0000310443" "0000685354" "0000311247" "0000686583" "0000311247" "0000686584" "0000311252" "0000686598" "0000311252" "0000686605" "0000311253" "0000686599" "0000311253" "0000686606" "0000311254" "0000686600" "0000311254" "0000686607" "0000311255" "0000686601" "0000311255" "0000686608" "0000311256" "0000686602" "0000311256" "0000686609" "0000311257" "0000686603" "0000311257" "0000686610" "0000311258" "0000686604" "0000311258" "0000686611" "0000311259" "0000686612" "0000311259" "0000686613" "0000311259" "0000686614" "0000311259" "0000686615" "0000311262" "0000686621" "0000311263" "0000686622" "0000311264" "0000686623" "0000311265" "0000686624" "0000311266" "0000686625" "0000311267" "0000686626" "0000311269" "0000686628" "0000311270" "0000686629" "0000311271" "0000686630" "0000311272" "0000686631" "0000311273" "0000686632" "0000311276" "0000686635" "0000311278" "0000686637" "0000311279" "0000686638" "0000311279" "0000686720" "0000311280" "0000686639" "0000311281" "0000686640" "0000311281" "0000686713" "0000311281" "0000686714" "0000311282" "0000686641" "0000311283" "0000686642" "0000311283" "0000686722" "0000311285" "0000686644" "0000311286" "0000686645" "0000311286" "0000686723" "0000311287" "0000686646" "0000311287" "0000686724" "0000311288" "0000686647" "0000311288" "0000686715" "0000311288" "0000686716" "0000311289" "0000686648" "0000311289" "0000686725" "0000311290" "0000686649" "0000311291" "0000686650" "0000311292" "0000686651" "0000311293" "0000686652" "0000311294" "0000686653" "0000311295" "0000686654" "0000311296" "0000686655" "0000311296" "0000686709" "0000311297" "0000686656" "0000311297" "0000686710" "0000311298" "0000686657" "0000311298" "0000686711" "0000311299" "0000686658" "0000311299" "0000686712" "0000311300" "0000686659" "0000311301" "0000686660" "0000311302" "0000686661" "0000311303" "0000686662" "0000311304" "0000686663" "0000311305" "0000686664" "0000311306" "0000686665" "0000311307" "0000686666" "0000311308" "0000686667" "0000311309" "0000686668" "0000311310" "0000686669" "0000311311" "0000686670" "0000311312" "0000686671" "0000311313" "0000686672" "0000311314" "0000686673" "0000311315" "0000686674" "0000311316" "0000686675" "0000311317" "0000686676" "0000311318" "0000686677" "0000311319" "0000686678" "0000311320" "0000686679" "0000311321" "0000686680" "0000311322" "0000686681" "0000311323" "0000686682" "0000311324" "0000686683" "0000311325" "0000686684" "0000311326" "0000686685" "0000311327" "0000686686" "0000311328" "0000686687" "0000311329" "0000686688" "0000311330" "0000686689" "0000311331" "0000686690" "0000311332" "0000686691" "0000311333" "0000686692" "0000311334" "0000686693" "0000311335" "0000686694" "0000311336" "0000686695" "0000311337" "0000686696" "0000311338" "0000686697" "0000311339" "0000686698" "0000311340" "0000686699" "0000311341" "0000686700" "0000311342" "0000686701" "0000311343" "0000686702" "0000311344" "0000686703" "0000311345" "0000686704" "0000311346" "0000686705" "0000311347" "0000686706" "0000311353" "0000686726" "0000311353" "0000686728" "0000311354" "0000686727" "0000311788" "0000687353" "0000311796" "0000687316" "0000311796" "0000687345" "0000311797" "0000687317" "0000311797" "0000687346" "0000311807" "0000687358" "0000311808" "0000687359" "0000311809" "0000687360" "0000311810" "0000687361" "0000311811" "0000687362" "0000311812" "0000687363" "0000311813" "0000687364" "0000311814" "0000687365" "0000311815" "0000687366" "0000311816" "0000687367" "0000311817" "0000687368" "0000328612" "0000712566"