### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX1) # 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}}" "PEX1" "peroxisomal biogenesis factor 1" "7" "q21.2" "unknown" "NG_008341.2" "UD_132119116638" "" "https://www.LOVD.nl/PEX1" "dbPEX " "1" "8850" "5189" "602136" "1" "1" "1" "1" " This database is one of the dbPEX gene variant database." "" "g" "https://databases.lovd.nl/shared/refseq/PEX1_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 16:25:34" "00006" "2025-10-16 10:09:06" ## 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}}" "00015982" "PEX1" "peroxisomal biogenesis factor 1" "004" "NM_000466.2" "" "NP_000457.1" "" "" "" "-96" "4286" "3852" "92157845" "92116337" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01702" "PBD1A" "peroxisome biogenesis disorder, type 1A (PBD1A, Zellweger syndrome)" "AR" "214100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-09 15:56:44" "02369" "PBD1B" "peroxisome biogenesis disorder, type 1B (PBD1B, (NALD/IRD))" "AR" "601539" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-09 15:57:01" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "PG" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2021-12-10 21:51:32" "05167" "HMLR1" "Heimler syndrome, type 1 (HMLR1)" "AR" "234580" "" "" "" "00008" "2016-05-25 15:33:09" "00006" "2021-12-10 21:51:32" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PEX1" "00139" "PEX1" "01702" "PEX1" "02369" "PEX1" "05167" ## Individuals ## Do not remove or alter this header ## ## Count = 601 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00065231" "" "" "" "2" "" "01604" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F" "" "Morocco" ">16y" "0" "" "" "" "Fam1PatII3" "00065261" "" "" "00065231" "1" "" "01604" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "M" "" "Morocco" ">12y" "0" "" "" "" "Fam1PatII4" "00065263" "" "" "" "2" "" "01604" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "no" "United States" ">31y" "0" "" "" "" "Fam2Pat1" "00065265" "" "" "00065263" "1" "" "01604" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "F" "no" "United States" ">29y" "0" "" "" "" "Fam2PatII2" "00065270" "" "" "" "1" "" "01604" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Ireland" ">19y" "0" "" "" "" "Fam3PatII1" "00065272" "" "" "" "1" "" "01604" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" ">24y" "0" "" "" "" "Fam4PatII1" "00072281" "" "" "" "5" "" "01580" "" "Parent of Heimler Syndrome patient" "F" "?" "Morocco" "" "0" "" "" "" "" "00072283" "" "" "00072281" "1" "" "01580" "" "Parent of Heimler Syndrome patient" "M" "?" "Morocco" "" "0" "" "" "" "" "00072284" "" "" "00072281" "1" "" "01580" "" "" "F" "yes" "Morocco" "" "0" "" "" "" "" "00072285" "" "" "00072281" "1" "" "01580" "" "" "M" "yes" "Morocco" "" "0" "" "" "" "" "00072286" "" "" "00072281" "1" "" "01580" "" "" "F" "yes" "Morocco" "" "0" "" "" "" "" "00081019" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00269115" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00269902" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00283619" "" "" "" "1" "" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "" "" "0" "" "" "" "Pat719" "00283620" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283621" "" "" "" "1" "" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "" "" "0" "" "" "" "Pat627" "00283622" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283623" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00283625" "" "" "" "1" "" "00004" "{PMID:Rosewich 2005:16141001}" "" "" "" "" "" "0" "" "" "" "patient" "00283630" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS23" "00283631" "" "" "" "1" "" "00004" "{PMID:Rosewich 2005:16141001}" "" "" "" "Germany" "00y04m" "0" "" "" "" "PatV,N" "00283632" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS22" "00283633" "" "" "" "1" "" "00004" "{PMID:Mohebbi 2012:22378672}" "" "" "" "" "" "0" "" "" "" "" "00283634" "" "" "" "1" "" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat616" "00283637" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS2" "00283640" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283641" "" "" "" "1" "" "00004" ", {PMID:Portsteffen 1997:9398848}" "" "" "" "" "" "0" "" "" "" "" "00283642" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS24" "00283643" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00283646" "" "" "" "1" "" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat604" "00283648" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283649" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283654" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS5" "00283656" "" "" "" "1" "" "00004" ", {PMID:Gärtner 1999:10384394}, {PMID:Waterham 2012:22871920}, {PMID:Weleber 1993:20301475}, {PMID:Bean 2013:23757202} 1998, {PMID:Portsteffen 1997:9398848}, {PMID:Steinberg 2006:17055079} 2001, 2005," "" "" "" "" "" "0" "" "" "" "" "00283657" "" "" "" "1" "" "00004" "{PMID:Reuber 1997:9398847}" "" "" "" "" "" "0" "" "" "" "PDB190" "00283660" "" "" "" "1" "" "00004" "{PMID:Rosewich 2005:16141001}" "" "" "" "Germany" "" "0" "" "" "" "PatG,D" "00283661" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283662" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283664" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283665" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS1" "00283666" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283667" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00283669" "" "" "" "1" "" "00004" ", {PMID:Bean 2013:23757202}, {PMID:Heimler 1991:2063923}, {PMID:Gärtner 1992:1301993}, {PMID:Steinberg 2006:17055079}, {PMID:Ratbi 2015:26387595}" "" "" "" "" "" "0" "" "" "" "" "00283671" "" "" "" "1" "" "00004" "{PMID:Rosewich 2005:16141001}" "" "" "" "Germany" "00y03m" "0" "" "" "" "PatK,M" "00283673" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283676" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283678" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283679" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283682" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283683" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283684" "" "" "" "1" "" "00004" "{PMID:Rosewich 2005:16141001}" "" "" "" "Germany" "00y02m" "0" "" "" "" "PatK,K" "00283685" "" "" "" "1" "" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "" "" "0" "" "" "" "Pat716" "00283686" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283689" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283694" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283696" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283697" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS25" "00283700" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283704" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283706" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283709" "" "" "" "1" "" "00004" "{PMID:Sun 2013:23247051}, , " "" "" "" "" "" "0" "" "" "" "" "00283711" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS14" "00283712" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283713" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00283718" "" "" "" "1" "" "00004" "{PMID:Sun 2013:23247051}" "" "" "" "" "" "0" "" "" "" "" "00283721" "" "" "" "1" "" "00004" "{PMID:Fromer 2014:24463507}" "" "" "" "" "" "0" "" "" "" "" "00283723" "" "" "" "1" "" "00004" "{PMID:Bean 2013:23757202}" "" "" "" "" "" "0" "" "" "" "" "00283724" "" "" "" "1" "" "00004" "{PMID:Rosewich 2005:16141001}" "" "" "" "Germany" "01y11m" "0" "" "" "" "PatG,A" "00283725" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS7" "00283727" "" "" "" "1" "" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat707" "00283728" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS30" "00283729" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00283730" "" "" "" "1" "" "00004" "{PMID:Thoms 2011:21846392}" "" "" "" "Germany" "" "0" "" "" "" "ZS15" "00283733" "" "" "" "1" "" "00004" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00289016" "" "" "" "1" "" "01848" "{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}" "" "F" "no" "Italy" "" "0" "" "" "" "Fam23P27" "00294515" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00306140" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "77" "00310375" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD045" "00310376" "" "" "" "1" "" "02015" "{PMID:Maxwell 1999:10480353}" "" "" "" "" "" "0" "" "" "" "Pat3822" "00310377" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat4307" "00310378" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat5162" "00310379" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat4936" "00310380" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat15" "00310381" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat1899" "00310382" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310383" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310384" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310385" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310386" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310387" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310388" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD036" "00310389" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD184" "00310390" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD186" "00310391" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD193" "00310392" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat4065" "00310393" "" "" "" "1" "" "02015" "{PMID:Preuss 2002:12032265}" "" "" "" "Germany" "" "0" "" "" "" "PatG003" "00310394" "" "" "" "1" "" "02015" "{PMID:Preuss 2002:12032265}" "" "" "" "Germany" "" "0" "" "" "" "PatG011" "00310395" "" "" "" "1" "" "02015" "{PMID:Walter 2001:11389485}" "" "" "" "" "" "0" "" "" "" "Pat17" "00310396" "" "" "" "1" "" "02015" "{PMID:Walter 2001:11389485}" "" "" "" "" "" "0" "" "" "" "Pat19" "00310397" "" "" "" "1" "" "02015" "{PMID:Walter 2001:11389485}" "" "" "" "" "" "0" "" "" "" "Pat23" "00310398" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310399" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310400" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310401" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310402" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD027" "00310403" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD167" "00310404" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD175" "00310405" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD191" "00310406" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD194" "00310407" "" "" "" "1" "" "02015" "{PMID:Collins 1999:10447258}" "" "" "" "" "" "0" "" "" "" "PBD195" "00310408" "" "" "" "1" "" "02015" "{PMID:Maxwell 1999:10480353}" "" "" "" "" "" "0" "" "" "" "Pat4756" "00310409" "" "" "" "1" "" "02015" "{PMID:Maxwell 1999:10480353}" "" "" "" "" "" "0" "" "" "" "Pat3488" "00310410" "" "" "" "1" "" "02015" "{PMID:Maxwell 1999:10480353}" "" "" "" "" "" "0" "" "" "" "Pat2777" "00310411" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat5203" "00310412" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat4442" "00310413" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat5291" "00310414" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat4824" "00310415" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat4397" "00310416" "" "" "" "1" "" "02015" "{PMID:Maxwell 2002:12402331}" "" "" "" "" "" "0" "" "" "" "Pat3611" "00310417" "" "" "" "1" "" "02015" "{PMID:Preuss 2002:12032265}" "" "" "" "Germany" "" "0" "" "" "" "PatG005" "00310418" "" "" "" "1" "" "02015" "{PMID:Walter 2001:11389485}" "" "" "" "" "" "0" "" "" "" "Pat10" "00310419" "" "" "" "1" "" "02015" "{PMID:Walter 2001:11389485}" "" "" "" "" "" "0" "" "" "" "Pat13" "00310420" "" "" "" "1" "" "02015" "{PMID:Walter 2001:11389485}" "" "" "" "" "" "0" "" "" "" "Pat20" "00310421" "" "" "" "1" "" "02015" "{PMID:Walter 2001:11389485}" "" "" "" "" "" "0" "" "" "" "Pat28" "00310422" "" "" "" "1" "" "02015" "{PMID:Walter 2001:11389485}" "" "" "" "" "" "0" "" "" "" "Pat30" "00310423" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310424" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310425" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310426" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310427" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310428" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310429" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310430" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310431" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310432" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310433" "" "" "" "1" "" "02015" 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"05079" "00407494" "05079" "00407495" "05079" "00407496" "05079" "00407497" "05079" "00407498" "05079" "00407499" "05079" "00407500" "05079" "00407501" "05079" "00407502" "05079" "00407503" "05079" "00407504" "05079" "00407505" "05079" "00407506" "05079" "00407507" "05079" "00407508" "05079" "00407509" "05079" "00407510" "05079" "00407511" "05079" "00407512" "05079" "00407513" "05079" "00407514" "05079" "00407515" "05079" "00407516" "05079" "00407517" "05079" "00407518" "05079" "00407519" "05079" "00407520" "05079" "00407521" "05079" "00407522" "05079" "00407523" "05079" "00407524" "05079" "00407525" "05079" "00407526" "05079" "00407527" "05079" "00407528" "05079" "00407529" "05079" "00407530" "05079" "00407531" "05079" "00407532" "05079" "00407533" "05079" "00407534" "05079" "00407535" "05079" "00407536" "05079" "00407537" "05079" "00407538" "05079" "00407539" "05079" "00407540" "05079" "00407541" "05079" "00407542" "05079" "00407543" "05079" "00407544" "05079" "00407545" "05079" "00407546" "05079" "00407547" "05079" "00407548" "05079" "00407549" "05079" "00407550" "05079" "00407551" "05079" "00407552" "05079" "00407553" "05079" "00407554" "05079" "00407555" "05079" "00407556" "05079" "00407557" "05079" "00407558" "05079" "00407559" "05079" "00407560" "05079" "00407561" "05079" "00407562" "05079" "00407563" "05079" "00407564" "05079" "00407565" "05079" "00407566" "05079" "00407567" "05079" "00407568" "05079" "00407569" "05079" "00407570" "05079" "00407571" "05079" "00407572" "05079" "00407573" "05079" "00407574" "05079" "00407575" "05079" "00407576" "05079" "00407577" "05079" "00407578" "05079" "00407579" "05079" "00407580" "05079" "00407581" "05079" "00407582" "05079" "00407583" "05079" "00407584" "05079" "00407585" "05079" "00407595" "05079" "00407596" "05079" "00407610" "05079" "00407611" "00000" "00407612" "05079" "00407613" "05079" "00407614" "05079" "00407615" "05079" "00407616" "05079" "00407617" "05079" "00407618" "05079" "00407619" "05079" "00407620" "05079" "00407621" "05079" "00407622" "05079" "00407623" "05079" "00407624" "05079" "00407625" "05079" "00407626" "05079" "00407627" "05079" "00407628" "05079" "00448503" "05400" "00462293" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01702, 02369, 04214, 05079, 05167, 05400, 05611 ## Count = 341 "{{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}}" "0000051338" "04294" "00065231" "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), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754)" "" "02y" "" "" "" "" "" "" "" "" "" "0000051367" "04294" "00065261" "01604" "Familial, autosomal recessive" "12y" "Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754)" "" "01y" "" "" "" "" "" "" "" "" "" "0000051369" "04294" "00065263" "01604" "Familial, autosomal recessive" "31y" "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), macular dystrophy (HP:0007754)" "" "01y06m" "" "" "" "" "" "" "" "" "" "0000051370" "04294" "00065265" "01604" "Familial, autosomal recessive" "29y" "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), macular dystrophy (HP:0007754)" "" "02y06m" "" "" "" "" "" "" "" "" "" "0000051376" "04294" "00065270" "01604" "Familial, autosomal recessive" "19y" "Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597)" "" "02y" "" "" "" "" "" "" "" "" "" "0000051986" "00198" "00072281" "01580" "Familial, autosomal recessive" "" "Unaffected" "" "" "" "" "" "" "" "" "" "" "" "0000051988" "00000" "00072283" "01580" "Familial, autosomal recessive" "" "Unaffected parent of Heimler Syndrome patient" "" "" "" "" "" "" "" "" "" "" "" "0000051989" "00000" "00072284" "01580" "Familial, autosomal recessive" "" "Unaffected sibling of Heimler Syndrome patient" "" "" "" "" "" "" "" "" "" "" "" "0000051990" "00000" "00072285" "01580" "Familial, autosomal recessive" "" "Unaffected sibling of Heimler Syndrome patient" "" "" "" "" "" "" "" "" "" "" "" "0000053268" "05167" "00072286" "01580" "Familial, autosomal recessive" "" "Heimler Syndrome patient; sensorineural hearing loss (HP:0000407), amelogenesis imperfecta (HP:0000705), nail abnormalities (HP:0001597)" "" "" "" "" "" "" "" "" "" "" "" "0000060588" "01702" "00081019" "01758" "Familial, autosomal recessive" "" "Peroxisome biogenesis disorder 1A (Zellweger) (OMIM:214100)" "" "" "" "" "" "" "" "" "" "" "" "0000079445" "05167" "00065272" "01604" "Familial, autosomal recessive" "24y" "Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754)" "01y06m" "" "" "" "" "" "" "" "" "" "" "0000206960" "00198" "00269115" "01164" "Unknown" "" "Large fontanelles (HP:0000239); Low-set ears (HP:0000369); Deviation of finger (HP:0004097); Depressed nasal bridge (HP:0005280); Abnormality of the face (HP:0000271); Hypertelorism (HP:0000316); Abnormality of the hand (HP:0001155); Talipes equinovarus (HP:0001762); Wide cranial sutures (HP:0010537); Muscular hypotonia (HP:0001252)" "" "" "" "" "" "" "" "" "" "" "" "0000207698" "00198" "00269902" "01807" "Unknown" "" "Neonatal death (HP:0003811)" "" "" "" "" "" "" "" "" "" "" "" "0000216746" "00198" "00283721" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Schizophrenia" "" "0000218079" "05079" "00283625" "00008" "Unknown" "" "zellweger syndrome" "" "" "" "" "" "" "" "" "type 1B" "peroxisome biogenesis disorder (NALD/IRD)" "" "0000218081" "05079" "00283630" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218082" "05079" "00283632" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218085" "05079" "00283637" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218088" "05079" "00283641" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218089" "05079" "00283654" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218090" "05079" "00283656" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218091" "05079" "00283657" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218093" "05079" "00283662" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218094" "05079" "00283665" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218098" "05079" "00283697" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218101" "05079" "00283711" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218103" "05079" "00283725" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218104" "05079" "00283728" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218105" "05079" "00283730" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "" "0000218962" "05079" "00283619" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218963" "05079" "00283621" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218964" "05079" "00283622" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218969" "05079" "00283631" "00008" "Familial, autosomal recessive" "00y04m" "4m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; no epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; no cataract; no retinitis pigmentosa; optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; raised liver enzymes; no renal cysts" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218970" "05079" "00283633" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218971" "05079" "00283634" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218972" "05079" "00283640" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218973" "05079" "00283642" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218976" "05079" "00283646" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218978" "05079" "00283648" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218979" "05079" "00283649" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218986" "05079" "00283660" "00008" "Familial, autosomal recessive" "00y04m" "large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; no external ear deformity; no sickle foot; poor sucking; no gavage feeding; hypotonia; severe psychomotor retardation; no seizures; no cataract; no retinitis pigmentosa; optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; raised liver enzymes; renal cysts" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218987" "05079" "00283661" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218989" "05079" "00283666" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218990" "05079" "00283669" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218992" "05079" "00283671" "00008" "Familial, autosomal recessive" "00y03m" "3m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; hepatomegaly; no liver fibrosis; no raised liver enzymes; calcific stipling" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218993" "05079" "00283673" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218995" "05079" "00283676" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218996" "05079" "00283678" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218998" "05079" "00283682" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000218999" "05079" "00283683" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219000" "05079" "00283684" "00008" "Familial, autosomal recessive" "00y02m" "2m-deceased; large fontanelle, wide sutures; high forehead; broad nasal bridge; hypertelorism; epicanthus; external ear deformity; sickle foot; poor sucking; gavage feeding; hypotonia; severe psychomotor retardation; seizures; hepatomegaly; liver fibrosis; raised liver enzymes; renal cysts" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219001" "05079" "00283685" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219003" "05079" "00283689" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219007" "05079" "00283694" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219009" "05079" "00283696" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219012" "05079" "00283700" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219017" "05079" "00283706" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219018" "05079" "00283709" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219024" "05079" "00283718" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219027" "05079" "00283724" "00008" "Familial, autosomal recessive" "01y11m" "1y11m-deceased; high forehead; broad nasal bridge; hypertelorism; no epicanthus; external ear deformity; sickle foot; poor sucking; no gavage feeding; hypotonia; severe psychomotor retardation; no seizures; no cataract; no retinitis pigmentosa; no optic atrophy; no nystagmus; no hepatomegaly; no liver fibrosis; no raised liver enzymes" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219029" "05079" "00283727" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219030" "05079" "00283729" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000219033" "05079" "00283733" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000227908" "04214" "00289016" "01848" "Familial, autosomal recessive" "11y" "RP, night blindness, pericentral field loss" "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000231984" "01702" "00306140" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235676" "05079" "00310375" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235677" "05079" "00310376" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235678" "05079" "00310377" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235679" "05079" "00310378" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235680" "05079" "00310379" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235681" "05079" "00310380" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235682" "05079" "00310381" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235683" "05079" "00310382" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235684" "05079" "00310383" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235685" "05079" "00310384" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235686" "05079" "00310385" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235687" "05079" "00310386" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235688" "05079" "00310387" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235689" "05079" "00310388" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235690" "05079" "00310389" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235691" "05079" "00310390" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235692" "05079" "00310391" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235693" "05079" "00310392" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235694" "05079" "00310393" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235695" "05079" "00310394" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235696" "05079" "00310395" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235697" "05079" "00310396" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235698" "05079" "00310397" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235699" "05079" "00310398" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235700" "05079" "00310399" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235701" "05079" "00310400" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235702" "05079" "00310401" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235703" "05079" "00310402" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235704" "05079" "00310403" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235705" "05079" "00310404" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235706" "05079" "00310405" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235707" "05079" "00310406" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235708" "05079" "00310407" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235709" "05079" "00310408" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235710" "05079" "00310409" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235711" "05079" "00310410" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235712" "05079" "00310411" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235713" "05079" "00310412" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235714" "05079" "00310413" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235715" "05079" "00310414" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235716" "05079" "00310415" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235717" "05079" "00310416" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235718" "05079" "00310417" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235719" "05079" "00310418" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235720" "05079" "00310419" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235721" "05079" "00310420" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235722" "05079" "00310421" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235723" "05079" "00310422" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235724" "05079" "00310423" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235725" "05079" "00310424" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235726" "05079" "00310425" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235727" "05079" "00310426" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235728" "05079" "00310427" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy / infantile Refsum disease" "" "0000235729" "05079" "00310428" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235730" "05079" "00310429" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235731" "05079" "00310430" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235732" "05079" "00310431" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235733" "05079" "00310432" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235734" "05079" "00310433" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235735" "05079" "00310434" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy / infantile Refsum disease" "" "0000235736" "05079" "00310435" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235737" "05079" "00310436" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235738" "05079" "00310437" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235739" "05079" "00310438" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235740" "05079" "00310439" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235741" "05079" "00310440" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235742" "05079" "00310441" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235743" "05079" "00310442" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235744" "05079" "00310443" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235745" "05079" "00310444" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235746" "05079" "00310445" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235747" "05079" "00310446" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235748" "05079" "00310447" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235749" "05079" "00310448" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235750" "05079" "00310449" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235751" "05079" "00310450" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235752" "05079" "00310451" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235753" "05079" "00310452" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235754" "05079" "00310453" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy / infantile Refsum disease" "" "0000235755" "05079" "00310454" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235756" "05079" "00310455" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235757" "05079" "00310456" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235758" "05079" "00310457" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235759" "05079" "00310458" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235760" "05079" "00310459" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235761" "05079" "00310460" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235762" "05079" "00310461" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235763" "05079" "00310462" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235764" "05079" "00310463" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235765" "05079" "00310464" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235766" "05079" "00310465" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235767" "05079" "00310466" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235768" "05079" "00310467" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235769" "05079" "00310468" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235770" "05079" "00310469" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235771" "05079" "00310470" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235772" "05079" "00310471" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235773" "05079" "00310472" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235774" "05079" "00310473" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy / infantile Refsum disease" "" "0000235775" "05079" "00310474" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy / infantile Refsum disease" "" "0000235776" "05079" "00310475" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235777" "05079" "00310476" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235778" "05079" "00310477" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235779" "05079" "00310478" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235780" "05079" "00310479" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235781" "05079" "00310480" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235782" "05079" "00310481" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235783" "05079" "00310482" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235784" "05079" "00310483" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235785" "05079" "00310484" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235786" "05079" "00310485" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235787" "05079" "00310486" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235788" "05079" "00310487" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235789" "05079" "00310488" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235790" "05079" "00310489" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235791" "05079" "00310490" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235792" "05079" "00310491" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235793" "05079" "00310492" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235794" "05079" "00310493" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235795" "05079" "00310494" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235796" "05079" "00310495" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235797" "05079" "00310496" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235798" "05079" "00310497" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235799" "05079" "00310498" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235800" "05079" "00310499" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235801" "05079" "00310500" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235802" "05079" "00310501" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235803" "05079" "00310502" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235804" "05079" "00310503" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235805" "05079" "00310504" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235806" "05079" "00310505" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235807" "05079" "00310506" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235808" "05079" "00310507" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235809" "05079" "00310508" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235810" "05079" "00310509" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235811" "05079" "00310510" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235812" "05079" "00310511" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235813" "05079" "00310512" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235814" "05079" "00310513" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235815" "05079" "00310518" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235816" "05079" "00310519" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235817" "05079" "00310520" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235818" "05079" "00310521" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235819" "05079" "00310522" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235820" "05079" "00310523" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235823" "05079" "00310526" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235824" "05079" "00310527" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235825" "05079" "00310528" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235826" "05079" "00310529" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235827" "05079" "00310530" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235828" "05079" "00310531" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235829" "05079" "00310532" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235830" "05079" "00310533" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235831" "05079" "00310534" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235832" "05079" "00310535" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235833" "05079" "00310536" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235834" "05079" "00310537" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235835" "05079" "00310538" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235836" "05079" "00310539" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235837" "05079" "00310540" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235838" "05079" "00310541" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235839" "05079" "00310542" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235840" "05079" "00310543" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235841" "05079" "00310544" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235842" "05079" "00310545" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235843" "05079" "00310546" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235844" "05079" "00310547" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235845" "05079" "00310548" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235846" "05079" "00310549" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235847" "05079" "00310550" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235848" "05079" "00310551" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235849" "05079" "00310552" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235850" "05079" "00310553" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235851" "05079" "00310554" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235852" "05079" "00310555" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235853" "05079" "00310556" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235854" "05079" "00310557" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235855" "05079" "00310558" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235856" "05079" "00310559" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235857" "05079" "00310560" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235858" "05079" "00310561" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235859" "05079" "00310562" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235860" "05079" "00310563" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235861" "05079" "00310564" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235862" "05079" "00310565" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235863" "05079" "00310566" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235864" "05079" "00310567" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235865" "05079" "00310568" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235866" "05079" "00310569" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235867" "05079" "00310570" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235868" "05079" "00310571" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235869" "05079" "00310572" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235870" "05079" "00310573" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235871" "05079" "00310574" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235872" "05079" "00310575" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235873" "05079" "00310577" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235874" "05079" "00310578" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235875" "05079" "00310579" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235876" "05079" "00310580" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235877" "05079" "00310581" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235878" "05079" "00310582" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235879" "05079" "00310583" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235880" "05079" "00310584" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235881" "05079" "00310585" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235882" "05079" "00310586" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235883" "05079" "00310587" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235884" "05079" "00310588" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235885" "05079" "00310589" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235886" "05079" "00310590" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235887" "05079" "00310591" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235888" "05079" "00310592" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235889" "05079" "00310593" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235890" "05079" "00310594" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235891" "05079" "00310595" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235892" "05079" "00310596" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235893" "05079" "00310597" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235894" "05079" "00310598" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235895" "05079" "00310599" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235896" "05079" "00310600" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235897" "05079" "00310601" "02015" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235905" "05079" "00310616" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235906" "05079" "00310617" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235907" "05079" "00310618" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235912" "05079" "00310623" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235913" "05079" "00310624" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235914" "05079" "00310625" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235915" "05079" "00310626" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235916" "05079" "00310627" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235917" "05079" "00310628" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235918" "05079" "00310629" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235919" "05079" "00310630" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235920" "05079" "00310631" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235921" "05079" "00310632" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235922" "05079" "00310633" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235923" "05079" "00310634" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235924" "05079" "00310635" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235925" "05079" "00310636" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235926" "05079" "00310637" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235927" "05079" "00310638" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235928" "05079" "00310639" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235929" "05079" "00310640" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235930" "05079" "00310641" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235931" "05079" "00310642" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235932" "05079" "00310643" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000249928" "04214" "00331736" "00000" "Familial, autosomal recessive" "" "Early retinitis pigmentosa, congenital deafness, neonatal jaundice, intrahepatic biliary dysgenesis, encephalopathy, intellectual disability, hiperprolactinemia, gynecomastia" "" "" "" "" "" "" "" "" "" "Zellweger syndrome spectrum disorder" "" "0000252290" "04214" "00334105" "00000" "Familial, autosomal recessive" "8m" "clinical category IB8" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000252291" "04214" "00334106" "00000" "Familial, autosomal recessive" "8y" "clinical category IB8" "" "" "" "" "" "" "" "" "" "Zellweger Spectrum" "" "0000253464" "00198" "00335518" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000254254" "04214" "00358956" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000269152" "04214" "00373943" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000269950" "00198" "00374740" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000270640" "04214" "00375426" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000282110" "04214" "00388570" "00000" "Isolated (sporadic)" "" "Pretest syndrome" "" "49y" "" "" "" "" "" "" "Heimler syndrome" "Usher syndrome" "" "0000288815" "04214" "00395617" "00000" "Familial, autosomal recessive" "" "posterior subcapsular cataract, rod-cone dystrophy, hearing impairment, obesity, intellectual disability, psychosis, self-harm" "" "" "" "" "" "" "" "" "peroxisome biogenesis disorder" "Alstrom-like syndrome" "" "0000292215" "05079" "00399126" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292216" "05079" "00399127" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292217" "05079" "00399128" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292220" "05079" "00399131" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292221" "05079" "00399132" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292222" "05079" "00399133" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292223" "05079" "00399134" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292225" "05079" "00399136" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292227" "05079" "00399138" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292228" "05079" "00399139" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292229" "05079" "00399140" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292230" "05079" "00399141" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292231" "05079" "00399142" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292232" "05079" "00399143" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000292233" "05079" "00399144" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PBD1" "Zellweger spectrum disorder" "" "0000296557" "05611" "00403877" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299469" "05079" "00407082" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PBD1A" "Zellweger syndrome" "" "0000299470" "05079" "00407083" "00006" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000337686" "05400" "00448503" "04656" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Moderately severe hearing loss" "" "0000349792" "00198" "00462293" "00006" "Familial, autosomal recessive" "" "34gw-polymicrogyria and heterotopias both cerebra/cerebellar hemispheres" "" "" "" "" "" "" "" "" "" "cerebral anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 601 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065383" "00065231" "1" "01604" "01604" "2016-05-23 16:16:26" "01604" "2016-05-25 12:32:37" "PCRq;SEQ;SEQ-NG-I" "DNA" "" "" "0000065412" "00065261" "1" "01604" "01604" "2016-05-24 15:25:56" "01604" "2016-05-25 12:33:11" "PCRq;SEQ;SEQ-NG" "DNA" "" "" "0000065414" "00065263" "1" "01604" "01604" "2016-05-24 15:40:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065415" "00065265" "1" "01604" "01604" "2016-05-24 15:57:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065421" "00065270" "1" "01604" "01604" "2016-05-25 11:32:57" "" "" "-;SEQ;SEQ-NG" "DNA" "" "" "0000065423" "00065272" "1" "01604" "01604" "2016-05-25 11:50:41" "" "" "arraySEQ;SEQ;SEQ-NG" "DNA" "" "" "0000072436" "00072281" "1" "01580" "01580" "2016-06-03 14:00:26" "" "" "SEQ" "DNA" "" "" "0000072438" "00072283" "1" "01580" "01580" "2016-06-03 14:11:11" "" "" "SEQ" "DNA" "" "" "0000072439" "00072284" "1" "01580" "01580" "2016-06-03 14:16:19" "" "" "SEQ" "DNA" "" "" "0000072440" "00072285" "1" "01580" "01580" "2016-06-03 14:20:42" "" "" "SEQ" "DNA" "" "" "0000072441" "00072286" "1" "01580" "01580" "2016-06-03 14:25:59" "00006" "2016-06-11 19:57:51" "SEQ;SEQ-NG" "DNA" "" "" "0000081131" "00081019" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000270246" "00269115" "1" "01164" "01164" "2019-11-06 14:42:11" "" "" "SEQ-NG-S" "DNA" "" "" "0000271055" "00269902" "1" "01807" "01807" "2019-12-10 12:32:15" "" "" "SEQ" "DNA" "" "" "0000284769" "00283619" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284770" "00283620" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284771" "00283621" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284772" "00283622" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284773" "00283623" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284775" "00283625" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284780" "00283630" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 19:17:00" "SEQ" "DNA" "" "" "0000284781" "00283631" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 09:32:29" "SEQ" "DNA" "" "" "0000284782" "00283632" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 19:38:47" "SEQ" "DNA" "" "" "0000284783" "00283633" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284784" "00283634" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284787" "00283637" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284790" "00283640" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284791" "00283641" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284792" "00283642" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 19:35:25" "SEQ" "DNA" "" "" "0000284793" "00283643" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284796" "00283646" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284798" "00283648" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284799" "00283649" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284804" "00283654" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 19:30:45" "SEQ" "DNA" "" "" "0000284806" "00283656" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284807" "00283657" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 12:18:06" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284810" "00283660" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 09:35:50" "SEQ" "DNA" "" "" "0000284811" "00283661" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284812" "00283662" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284814" "00283664" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284815" "00283665" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284816" "00283666" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284817" "00283667" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284819" "00283669" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284821" "00283671" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 09:47:29" "SEQ" "DNA" "" "" "0000284823" "00283673" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284826" "00283676" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284828" "00283678" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284829" "00283679" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284832" "00283682" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284833" "00283683" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284834" "00283684" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 09:54:50" "SEQ" "DNA" "" "" "0000284835" "00283685" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284836" "00283686" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 15:35:32" "SEQ" "DNA" "" "" "0000284839" "00283689" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284844" "00283694" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284846" "00283696" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284847" "00283697" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 19:26:46" "SEQ" "DNA" "" "" "0000284850" "00283700" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284854" "00283704" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284856" "00283706" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284859" "00283709" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284861" "00283711" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 19:24:27" "SEQ" "DNA" "" "" "0000284862" "00283712" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284863" "00283713" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284868" "00283718" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284871" "00283721" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284873" "00283723" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284874" "00283724" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 09:50:03" "SEQ" "DNA" "" "" "0000284875" "00283725" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 19:14:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284877" "00283727" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284878" "00283728" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 19:22:07" "SEQ" "DNA" "" "" "0000284879" "00283729" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284880" "00283730" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-04-06 19:12:02" "SEQ" "DNA" "" "" "0000284883" "00283733" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000290184" "00289016" "1" "01848" "01848" "2020-02-25 09:35:58" "01848" "2020-02-25 09:40:49" "SEQ-NG" "DNA" "" "" "0000295683" "00294515" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000307271" "00306140" "1" "03695" "03695" "2020-07-08 21:48:38" "" "" "SEQ-NG" "DNA" "" "" "0000311527" "00310375" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311528" "00310376" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311529" "00310377" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311530" "00310378" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311531" "00310379" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311532" "00310380" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311533" "00310381" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311534" "00310382" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311535" "00310383" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311536" "00310384" "1" "02015" "00006" "2006-10-24 18:53:26" "" "" "SEQ" "DNA" "" "" "0000311537" "00310385" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311538" "00310386" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311539" "00310387" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311540" "00310388" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311541" "00310389" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311542" "00310390" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311543" "00310391" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311544" "00310392" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311545" "00310393" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311546" "00310394" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311547" "00310395" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311548" "00310396" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311549" "00310397" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311550" "00310398" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311551" "00310399" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311552" "00310400" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311553" "00310401" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311554" "00310402" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311555" "00310403" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311556" "00310404" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311557" "00310405" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311558" "00310406" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311559" "00310407" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311560" "00310408" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311561" "00310409" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311562" "00310410" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311563" "00310411" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311564" "00310412" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311565" "00310413" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311566" "00310414" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311567" "00310415" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311568" "00310416" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311569" "00310417" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311570" "00310418" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311571" "00310419" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311572" "00310420" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311573" "00310421" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311574" "00310422" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311575" "00310423" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311576" "00310424" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311577" "00310425" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311578" "00310426" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311579" "00310427" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311580" "00310428" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311581" "00310429" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311582" "00310430" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311583" "00310431" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311584" "00310432" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311585" "00310433" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311586" "00310434" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311587" "00310435" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" 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"0000311610" "00310458" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311611" "00310459" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311612" "00310460" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311613" "00310461" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311614" "00310462" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311615" "00310463" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311616" "00310464" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311617" "00310465" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311618" "00310466" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311619" "00310467" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311620" "00310468" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311621" "00310469" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311622" "00310470" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311623" "00310471" "1" "02015" "00006" "2006-10-24 19:11:12" "" "" "SEQ" "DNA" "" "" "0000311624" "00310472" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311625" "00310473" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311626" "00310474" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311627" "00310475" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311628" "00310476" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311629" "00310477" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311630" "00310478" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311631" "00310479" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311632" "00310480" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311633" "00310481" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311634" "00310482" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311635" "00310483" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311636" "00310484" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311637" "00310485" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311638" "00310486" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311639" "00310487" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311640" "00310488" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311641" "00310489" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311642" "00310490" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311643" "00310491" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311644" "00310492" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311645" "00310493" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311646" "00310494" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311647" "00310495" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311648" "00310496" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311649" "00310497" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311650" "00310498" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311651" "00310499" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311652" "00310500" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311653" "00310501" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311654" "00310502" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311655" "00310503" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311656" "00310504" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311657" "00310505" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311658" "00310506" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311659" "00310507" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311660" "00310508" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311661" "00310509" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311662" "00310510" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "ASO" "DNA" "" "" "0000311663" "00310511" "1" "02015" "00006" "2006-05-05 09:57:06" "" "" "SEQ" "DNA" "" "" "0000311664" "00310512" "1" "02015" "00006" "2010-10-04 16:42:05" "00006" "2022-04-06 12:14:09" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311665" "00310513" "1" "02015" "00006" "2006-10-20 17:56:11" "" "" "SEQ" "DNA" "" "" "0000311666" "00310514" "1" "02015" "00006" "2006-10-20 18:12:24" "" "" "SEQ" "DNA" "" "" "0000311667" "00310515" "1" "02015" "00006" "2006-10-20 18:16:03" "" "" "SEQ" "DNA" "" "" "0000311668" "00310516" "1" "02015" "00006" "2006-10-20 18:17:40" "" "" "SEQ" "DNA" "" "" "0000311669" "00310517" "1" "02015" "00006" "2006-10-20 18:19:09" "" "" "SEQ" "DNA" "" "" "0000311670" "00310518" "1" "02015" "00006" "2006-10-21 14:41:00" "" "" "SEQ" "DNA" "" "" "0000311671" "00310519" "1" "02015" "00006" "2006-10-21 14:44:58" "" "" "SEQ" "DNA" "" "" "0000311672" "00310520" "1" "02015" "00006" "2006-10-21 14:50:36" "" "" "SEQ" "DNA" "" "" "0000311673" "00310521" "1" "02015" "00006" "2006-10-21 15:30:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311674" "00310522" "1" "02015" "00006" "2006-10-21 15:33:33" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311675" "00310523" "1" "02015" "00006" "2006-10-21 15:48:10" "" "" "SEQ" "DNA" "" "" "0000311678" "00310526" "1" "02015" "00006" "2006-10-21 16:03:51" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311679" "00310527" "1" "02015" "00006" "2006-10-21 16:05:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311680" "00310528" "1" "02015" "00006" "2007-11-20 11:56:54" "" "" "SEQ" "DNA" "" "" "0000311681" "00310529" "1" "02015" "00006" "2008-10-24 17:54:00" "" "" "SEQ" "DNA" "" "" "0000311682" "00310530" "1" "02015" "00006" "2008-10-24 17:55:33" "" "" "SEQ" "DNA" "" "" "0000311683" "00310531" "1" "02015" "00006" "2008-10-24 17:57:21" "" "" "SEQ" "DNA" "" "" "0000311684" "00310532" "1" "02015" "00006" "2008-10-24 18:07:20" "" "" "SEQ" "DNA" "" "" "0000311685" "00310533" "1" "02015" "00006" "2008-10-24 18:11:25" "" "" "SEQ" "DNA" "" "" "0000311686" "00310534" "1" "02015" "00006" "2008-10-24 18:18:14" "" "" "SEQ" "DNA" "" "" "0000311687" "00310535" "1" "02015" "00006" "2008-10-24 18:39:16" "" "" "SEQ" "DNA" "" "" "0000311688" "00310536" "1" "02015" "00006" "2008-11-20 14:24:43" "" "" "PCR;SEQ" "DNA" "" "" "0000311689" "00310537" "1" "02015" "00006" "2008-11-20 14:25:53" "" "" "PCR;SEQ" "DNA" "" "" "0000311690" "00310538" "1" "02015" "00006" "2008-11-20 14:26:44" "" "" "PCR;SEQ" "DNA" "" "" "0000311691" "00310539" "1" "02015" "00006" "2008-11-20 14:27:37" "" "" "PCR;SEQ" "DNA" "" "" "0000311692" "00310540" "1" "02015" "00006" "2008-11-20 14:28:32" "" "" "PCR;SEQ" "DNA" "" "" "0000311693" "00310541" "1" "02015" "00006" "2008-11-20 14:30:19" "" "" "PCR;SEQ" "DNA" "" "" "0000311694" "00310542" "1" "02015" "00006" "2008-11-20 14:33:59" "" "" "PCR;SEQ" "DNA" "" "" "0000311695" "00310543" "1" "02015" "00006" "2008-11-20 14:37:29" "" "" "PCR;SEQ" "DNA" "" "" "0000311696" "00310544" "1" "02015" "00006" "2008-11-20 17:50:05" "" "" "SEQ" "DNA" "" "" "0000311697" "00310545" "1" "02015" "00006" "2008-11-20 17:51:24" "" "" "SEQ" "DNA" "" "" "0000311698" "00310546" "1" "02015" "00006" "2008-11-20 17:52:51" "" "" "SEQ" "DNA" "" "" "0000311699" "00310547" "1" "02015" "00006" "2008-11-20 17:53:54" "" "" "SEQ" "DNA" "" "" "0000311700" "00310548" "1" "02015" "00006" "2008-11-20 17:54:46" "" "" "SEQ" "DNA" "" "" "0000311701" "00310549" "1" "02015" "00006" "2008-11-20 17:56:43" "" "" "SEQ" "DNA" "" "" "0000311702" "00310550" "1" "02015" "00006" "2008-11-20 17:57:29" "" "" "SEQ" "DNA" "" "" "0000311703" "00310551" "1" "02015" "00006" "2008-11-20 17:58:42" "" "" "SEQ" "DNA" "" "" "0000311704" "00310552" "1" "02015" "00006" "2008-11-20 18:01:56" "" "" "SEQ" "DNA" "" "" "0000311705" "00310553" "1" "02015" "00006" "2008-11-20 18:03:12" "" "" "SEQ" "DNA" "" "" "0000311706" "00310554" "1" "02015" "00006" "2008-11-20 18:09:37" "" "" "SEQ" "DNA" "" "" "0000311707" "00310555" "1" "02015" "00006" "2009-06-12 13:50:29" "" "" "SEQ" "DNA" "" "" "0000311708" "00310556" "1" "02015" "00006" "2009-06-12 14:14:41" "" "" "SEQ" "DNA" "" "" "0000311709" "00310557" "1" "02015" "00006" "2009-06-12 14:21:21" "" "" "SEQ" "DNA" "" "" "0000311710" "00310558" "1" "02015" "00006" "2009-06-12 14:27:19" "" "" "SEQ" "DNA" "" "" "0000311711" "00310559" "1" "02015" "00006" "2009-06-12 14:41:12" "" "" "SEQ" "DNA" "" "" "0000311712" "00310560" "1" "02015" "00006" "2009-06-12 14:44:41" "" "" "SEQ" "DNA" "" "" "0000311713" "00310561" "1" "02015" "00006" "2009-06-12 14:46:26" "" "" "SEQ" "DNA" "" "" "0000311714" "00310562" "1" "02015" "00006" "2011-11-23 17:40:13" "" "" "SEQ" "DNA" "" "" "0000311715" "00310563" "1" "02015" "00006" "2012-05-02 15:31:36" "" "" "SEQ" "DNA" "" "" "0000311716" "00310564" "1" "02015" "00006" "2012-05-02 15:40:46" "" "" "SEQ" "DNA" "" "" "0000311717" "00310565" "1" "02015" "00006" "2012-05-02 15:49:37" "" "" "SEQ" "DNA" "" "" "0000311718" "00310566" "1" "02015" "00006" "2012-05-03 08:50:47" "" "" "SEQ" "DNA" "" "" "0000311719" "00310567" "1" "02015" "00006" "2012-05-03 08:56:19" "" "" "SEQ" "DNA" "" "" "0000311720" "00310568" "1" "02015" "00006" "2012-05-03 09:02:42" "" "" "SEQ" "DNA" "" "" "0000311721" "00310569" "1" "02015" "00006" "2012-05-03 09:06:46" "" "" "SEQ" "DNA" "" "" "0000311722" "00310570" "1" "02015" "00006" "2012-05-03 09:14:26" "" "" "SEQ" "DNA" "" "" "0000311723" "00310571" "1" "02015" "00006" "2012-05-03 09:17:33" "" "" "SEQ" "DNA" "" "" "0000311724" "00310572" "1" "02015" "00006" "2012-05-03 09:21:18" "" "" "SEQ" "DNA" "" "" "0000311725" "00310573" "1" "02015" "00006" "2012-05-03 09:31:51" "" "" "SEQ" "DNA" "" "" "0000311726" "00310574" "1" "02015" "00006" "2012-05-03 09:32:59" "" "" "SEQ" "DNA" "" "" "0000311727" "00310575" "1" "02015" "00006" "2012-05-03 09:34:00" "" "" "SEQ" "DNA" "" "" "0000311728" "00310576" "1" "02015" "00006" "2012-05-03 09:35:22" "" "" "SEQ" "DNA" "" "" "0000311729" "00310577" "1" "02015" "00006" "2012-05-03 09:45:23" "" "" "SEQ" "DNA" "" "" "0000311730" "00310578" "1" "02015" "00006" "2012-05-03 09:51:37" "" "" "SEQ" "DNA" "" "" "0000311731" "00310579" "1" "02015" "00006" "2012-05-03 09:56:16" "" "" "SEQ" "DNA" "" "" 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"2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408773" "00407525" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408774" "00407526" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408775" "00407527" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408776" "00407528" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408777" "00407529" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408778" "00407530" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408779" "00407531" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408780" "00407532" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408781" "00407533" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408782" "00407534" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408783" "00407535" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408784" "00407536" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408785" "00407537" "1" "00006" "00006" "2022-04-06 17:41:58" "" "" "SEQ" "DNA" "" "" "0000408786" "00407538" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408787" "00407539" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408788" "00407540" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408789" "00407541" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408790" "00407542" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408791" "00407543" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408792" "00407544" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408793" "00407545" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408794" "00407546" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408795" "00407547" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408796" "00407548" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408797" "00407549" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408798" "00407550" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408799" "00407551" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408800" "00407552" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408801" "00407553" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408802" "00407554" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408803" "00407555" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408804" "00407556" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408805" "00407557" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408806" "00407558" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408807" "00407559" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408808" "00407560" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408809" "00407561" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408810" "00407562" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408811" "00407563" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408812" "00407564" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408813" "00407565" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408814" "00407566" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408815" "00407567" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408816" "00407568" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408817" "00407569" "1" "00006" "00006" "2022-04-06 17:47:25" "" "" "SEQ" "DNA" "" "" "0000408818" "00407570" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408819" "00407571" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408820" "00407572" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408821" "00407573" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408822" "00407574" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408823" "00407575" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408824" "00407576" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408825" "00407577" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408826" "00407578" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408827" "00407579" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408828" "00407580" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408829" "00407581" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408830" "00407582" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408831" "00407583" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408832" "00407584" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408833" "00407585" "1" "00006" "00006" "2022-04-06 17:49:36" "" "" "SEQ" "DNA" "" "" "0000408843" "00407595" "1" "00006" "00006" "2022-04-06 19:44:55" "" "" "SEQ" "DNA" "" "" "0000408844" "00407596" "1" "00006" "00006" "2022-04-06 19:49:55" "" "" "SEQ" "DNA" "" "" "0000408858" "00407610" "1" "00006" "00006" "2022-04-06 21:10:00" "" "" "SEQ" "DNA" "" "" "0000408859" "00407611" "1" "00006" "00006" "2022-04-06 21:16:58" "" "" "SEQ" "DNA" "" "" "0000408860" "00407612" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408861" "00407613" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408862" "00407614" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408863" "00407615" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408864" "00407616" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408865" "00407617" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408866" "00407618" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408867" "00407619" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408868" "00407620" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408869" "00407621" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408870" "00407622" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408871" "00407623" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408872" "00407624" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408873" "00407625" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408874" "00407626" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408875" "00407627" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000408876" "00407628" "1" "00006" "00006" "2022-04-06 22:03:00" "" "" "SEQ" "DNA" "" "" "0000450084" "00448503" "1" "04656" "04656" "2024-03-18 08:02:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000463925" "00462293" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 564 "{{screeningid}}" "{{geneid}}" "0000065383" "PEX1" "0000065412" "PEX1" "0000065414" "PEX1" "0000065415" "PEX1" "0000065421" "PEX1" "0000065423" "PEX1" "0000072436" "PEX1" "0000072438" "PEX1" "0000072439" "PEX1" "0000072440" "PEX1" "0000072441" "PEX1" "0000081131" "PEX1" "0000284769" "PEX1" "0000284770" "PEX1" "0000284771" "PEX1" "0000284772" "PEX1" "0000284773" "PEX1" "0000284775" "PEX1" "0000284780" "PEX1" "0000284781" "PEX1" "0000284782" "PEX1" "0000284783" "PEX1" "0000284784" "PEX1" "0000284787" "PEX1" "0000284790" "PEX1" "0000284791" "PEX1" "0000284792" "PEX1" "0000284793" "PEX1" "0000284796" "PEX1" "0000284798" "PEX1" "0000284799" "PEX1" "0000284804" "PEX1" "0000284806" "PEX1" "0000284807" "PEX1" "0000284810" "PEX1" "0000284811" "PEX1" "0000284812" "PEX1" "0000284814" "PEX1" "0000284815" "PEX1" "0000284816" "PEX1" "0000284817" "PEX1" "0000284819" "PEX1" "0000284821" "PEX1" "0000284823" "PEX1" "0000284826" "PEX1" "0000284828" "PEX1" "0000284829" "PEX1" "0000284832" "PEX1" "0000284833" "PEX1" "0000284834" "PEX1" "0000284835" "PEX1" "0000284836" "PEX1" "0000284839" "PEX1" "0000284844" "PEX1" "0000284846" "PEX1" "0000284847" "PEX1" "0000284850" "PEX1" "0000284854" "PEX1" "0000284856" "PEX1" "0000284859" "PEX1" "0000284861" "PEX1" "0000284862" "PEX1" "0000284863" "PEX1" "0000284868" "PEX1" "0000284871" "PEX1" "0000284873" "PEX1" "0000284874" "PEX1" "0000284875" "PEX1" "0000284877" "PEX1" "0000284878" "PEX1" "0000284879" "PEX1" "0000284880" "PEX1" "0000284883" "PEX1" "0000300751" "ARHGEF18" "0000307271" "PEX1" "0000311527" "PEX1" "0000311528" "PEX1" "0000311529" "PEX1" "0000311530" "PEX1" "0000311531" "PEX1" "0000311532" "PEX1" "0000311533" "PEX1" "0000311534" "PEX1" "0000311535" "PEX1" "0000311536" "PEX1" "0000311537" "PEX1" "0000311538" "PEX1" "0000311539" "PEX1" "0000311540" "PEX1" "0000311541" "PEX1" "0000311542" "PEX1" "0000311543" "PEX1" "0000311544" "PEX1" "0000311545" "PEX1" "0000311546" "PEX1" "0000311547" "PEX1" "0000311548" "PEX1" "0000311549" "PEX1" "0000311550" "PEX1" "0000311551" "PEX1" "0000311552" "PEX1" "0000311553" "PEX1" "0000311554" "PEX1" "0000311555" "PEX1" "0000311556" "PEX1" "0000311557" "PEX1" "0000311558" "PEX1" "0000311559" "PEX1" "0000311560" "PEX1" "0000311561" "PEX1" "0000311562" "PEX1" "0000311563" "PEX1" "0000311564" "PEX1" "0000311565" "PEX1" "0000311566" "PEX1" "0000311567" "PEX1" "0000311568" "PEX1" "0000311569" "PEX1" "0000311570" "PEX1" "0000311571" "PEX1" "0000311572" "PEX1" "0000311573" "PEX1" "0000311574" "PEX1" "0000311575" "PEX1" "0000311576" "PEX1" "0000311577" "PEX1" "0000311578" "PEX1" "0000311579" "PEX1" "0000311580" "PEX1" "0000311581" "PEX1" "0000311582" "PEX1" "0000311583" "PEX1" "0000311584" "PEX1" "0000311585" "PEX1" "0000311586" "PEX1" "0000311587" "PEX1" "0000311588" "PEX1" "0000311589" "PEX1" "0000311590" "PEX1" "0000311591" "PEX1" "0000311592" "PEX1" "0000311593" "PEX1" "0000311594" "PEX1" "0000311595" "PEX1" "0000311596" "PEX1" "0000311597" "PEX1" "0000311598" "PEX1" "0000311599" "PEX1" "0000311600" "PEX1" "0000311601" "PEX1" "0000311602" "PEX1" "0000311603" "PEX1" "0000311604" "PEX1" "0000311605" "PEX1" "0000311606" "PEX1" "0000311607" "PEX1" "0000311608" "PEX1" "0000311609" "PEX1" "0000311610" "PEX1" "0000311611" "PEX1" "0000311612" "PEX1" "0000311613" "PEX1" "0000311614" "PEX1" "0000311615" "PEX1" "0000311616" "PEX1" "0000311617" "PEX1" "0000311618" "PEX1" "0000311619" "PEX1" "0000311620" "PEX1" "0000311621" "PEX1" "0000311622" "PEX1" "0000311623" "PEX1" "0000311624" "PEX1" "0000311625" "PEX1" "0000311626" "PEX1" "0000311627" "PEX1" "0000311628" "PEX1" "0000311629" "PEX1" "0000311630" "PEX1" "0000311631" "PEX1" "0000311632" "PEX1" "0000311633" "PEX1" "0000311634" "PEX1" "0000311635" "PEX1" "0000311636" "PEX1" "0000311637" "PEX1" "0000311638" "PEX1" "0000311639" "PEX1" "0000311640" "PEX1" "0000311641" "PEX1" "0000311642" "PEX1" "0000311643" "PEX1" "0000311644" "PEX1" "0000311645" "PEX1" "0000311646" "PEX1" "0000311647" "PEX1" "0000311648" "PEX1" "0000311649" "PEX1" "0000311650" "PEX1" "0000311651" "PEX1" "0000311652" "PEX1" "0000311653" "PEX1" "0000311654" "PEX1" "0000311655" "PEX1" "0000311656" "PEX1" "0000311657" "PEX1" "0000311658" "PEX1" "0000311659" "PEX1" "0000311660" "PEX1" "0000311661" "PEX1" "0000311662" "PEX1" "0000311663" "PEX1" "0000311664" "PEX1" "0000311665" "PEX1" "0000311666" "PEX1" "0000311667" "PEX1" "0000311668" "PEX1" "0000311669" "PEX1" "0000311670" "PEX1" "0000311671" "PEX1" "0000311672" "PEX1" "0000311673" "PEX1" "0000311674" "PEX1" "0000311675" "PEX1" "0000311678" "PEX1" "0000311679" "PEX1" "0000311680" "PEX1" "0000311681" "PEX1" "0000311682" "PEX1" "0000311683" "PEX1" "0000311684" "PEX1" "0000311685" "PEX1" "0000311686" "PEX1" "0000311687" "PEX1" "0000311688" "PEX1" "0000311689" "PEX1" "0000311690" "PEX1" "0000311691" "PEX1" "0000311692" "PEX1" "0000311693" "PEX1" "0000311694" "PEX1" "0000311695" "PEX1" "0000311696" "PEX1" "0000311697" "PEX1" "0000311698" "PEX1" "0000311699" "PEX1" "0000311700" "PEX1" "0000311701" "PEX1" "0000311702" "PEX1" "0000311703" "PEX1" "0000311704" "PEX1" "0000311705" "PEX1" "0000311706" "PEX1" "0000311707" "PEX1" "0000311708" "PEX1" "0000311709" "PEX1" "0000311710" "PEX1" "0000311711" "PEX1" "0000311712" "PEX1" "0000311713" "PEX1" "0000311714" "PEX1" "0000311715" "PEX1" "0000311716" "PEX1" "0000311717" "PEX1" "0000311718" "PEX1" "0000311719" "PEX1" "0000311720" "PEX1" "0000311721" "PEX1" "0000311722" "PEX1" "0000311723" "PEX1" "0000311724" "PEX1" "0000311725" "PEX1" "0000311726" "PEX1" "0000311727" "PEX1" "0000311728" "PEX1" "0000311729" "PEX1" "0000311730" "PEX1" "0000311731" "PEX1" "0000311732" "PEX1" "0000311733" "PEX1" "0000311734" "PEX1" "0000311735" "PEX1" "0000311736" "PEX1" "0000311737" "PEX1" "0000311738" "PEX1" "0000311739" "PEX1" "0000311740" "PEX1" "0000311741" "PEX1" "0000311742" "PEX1" "0000311743" "PEX1" "0000311744" "PEX1" "0000311745" "PEX1" "0000311746" "PEX1" "0000311747" "PEX1" "0000311748" "PEX1" "0000311749" "PEX1" "0000311750" "PEX1" "0000311751" "PEX1" "0000311752" "PEX1" "0000311753" "PEX1" "0000311768" "PEX1" "0000311769" "PEX1" "0000311770" "PEX1" "0000311775" "PEX1" "0000311776" "PEX1" "0000311777" "PEX1" "0000311778" "PEX1" "0000311779" "PEX1" "0000311780" "PEX1" "0000311781" "PEX1" "0000311782" "PEX1" "0000311783" "PEX1" "0000311784" "PEX1" "0000311785" "PEX1" "0000311786" "PEX1" "0000311787" "PEX1" "0000311788" "PEX1" "0000311789" "PEX1" "0000311790" "PEX1" "0000311791" "PEX1" "0000311792" "PEX1" "0000311793" "PEX1" "0000311794" "PEX1" "0000311795" "PEX1" "0000311804" "PEX1" "0000311805" "PEX1" "0000311806" "PEX1" "0000332955" "PEX1" "0000335331" "PEX1" "0000335332" "PEX1" "0000375175" "PEX1" "0000375934" "GALC" "0000389812" "PEX1" "0000396855" "PEX1" "0000400371" "PEX1" "0000400372" "PEX1" "0000400373" "PEX1" "0000400376" "PEX1" "0000400377" "PEX1" "0000400378" "PEX1" "0000400379" "PEX1" "0000400381" "PEX1" "0000400383" "PEX1" "0000400384" "PEX1" "0000400385" "PEX1" "0000400386" "PEX1" "0000400387" "PEX1" "0000400388" "PEX1" "0000400389" "PEX1" "0000408329" "PEX1" "0000408330" "PEX1" "0000408338" "PEX1" "0000408339" "PEX1" "0000408340" "PEX1" "0000408341" "PEX1" "0000408342" "PEX1" "0000408343" "PEX1" "0000408344" "PEX1" "0000408345" "PEX1" "0000408346" "PEX1" "0000408347" "PEX1" "0000408348" "PEX1" "0000408349" "PEX1" "0000408350" "PEX1" "0000408351" "PEX1" "0000408352" "PEX1" "0000408353" "PEX1" "0000408354" "PEX1" "0000408355" "PEX1" "0000408356" "PEX1" "0000408357" "PEX1" "0000408358" "PEX1" "0000408359" "PEX1" "0000408360" "PEX1" "0000408361" "PEX1" "0000408362" "PEX1" "0000408363" "PEX1" "0000408364" "PEX1" "0000408365" "PEX1" "0000408366" "PEX1" "0000408367" "PEX1" "0000408368" "PEX1" "0000408369" "PEX1" "0000408370" "PEX1" "0000408637" "PEX1" "0000408638" "PEX1" "0000408639" "PEX1" "0000408640" "PEX1" "0000408642" "PEX1" "0000408643" "PEX1" "0000408644" "PEX1" "0000408645" "PEX1" "0000408646" "PEX1" "0000408647" "PEX1" "0000408682" "PEX1" "0000408683" "PEX1" "0000408684" "PEX1" "0000408685" "PEX1" "0000408686" "PEX1" "0000408687" "PEX1" "0000408688" "PEX1" "0000408689" "PEX1" "0000408690" "PEX1" "0000408691" "PEX1" "0000408692" "PEX1" "0000408693" "PEX1" "0000408694" "PEX1" "0000408695" "PEX1" "0000408696" "PEX1" "0000408697" "PEX1" "0000408698" "PEX1" "0000408699" "PEX1" "0000408700" "PEX1" "0000408701" "PEX1" "0000408702" "PEX1" "0000408703" "PEX1" "0000408704" "PEX1" "0000408705" "PEX1" "0000408706" "PEX1" "0000408707" "PEX1" "0000408708" "PEX1" "0000408709" "PEX1" "0000408710" "PEX1" "0000408711" "PEX1" "0000408712" "PEX1" "0000408713" "PEX1" "0000408714" "PEX1" "0000408715" "PEX1" "0000408716" "PEX1" "0000408717" "PEX1" "0000408718" "PEX1" "0000408719" "PEX1" "0000408720" "PEX1" "0000408721" "PEX1" "0000408722" "PEX1" "0000408723" "PEX1" "0000408724" "PEX1" "0000408725" "PEX1" "0000408726" "PEX1" "0000408727" "PEX1" "0000408728" "PEX1" "0000408729" "PEX1" "0000408730" "PEX1" "0000408731" "PEX1" "0000408732" "PEX1" "0000408733" "PEX1" "0000408734" "PEX1" "0000408735" "PEX1" "0000408736" "PEX1" "0000408737" "PEX1" "0000408738" "PEX1" "0000408739" "PEX1" "0000408740" "PEX1" "0000408741" "PEX1" "0000408742" "PEX1" "0000408743" "PEX1" "0000408744" "PEX1" "0000408745" "PEX1" "0000408746" "PEX1" "0000408747" "PEX1" "0000408748" "PEX1" "0000408749" "PEX1" "0000408750" "PEX1" "0000408751" "PEX1" "0000408752" "PEX1" "0000408753" "PEX1" "0000408754" "PEX1" "0000408755" "PEX1" "0000408756" "PEX1" "0000408757" "PEX1" "0000408758" "PEX1" "0000408759" "PEX1" "0000408760" "PEX1" "0000408761" "PEX1" "0000408762" "PEX1" "0000408763" "PEX1" "0000408764" "PEX1" "0000408765" "PEX1" "0000408766" "PEX1" "0000408767" "PEX1" "0000408768" "PEX1" "0000408769" "PEX1" "0000408770" "PEX1" "0000408771" "PEX1" "0000408772" "PEX1" "0000408773" "PEX1" "0000408774" "PEX1" "0000408775" "PEX1" "0000408776" "PEX1" "0000408777" "PEX1" "0000408778" "PEX1" "0000408779" "PEX1" "0000408780" "PEX1" "0000408781" "PEX1" "0000408782" "PEX1" "0000408783" "PEX1" "0000408784" "PEX1" "0000408785" "PEX1" "0000408786" "PEX1" "0000408787" "PEX1" "0000408788" "PEX1" "0000408789" "PEX1" "0000408790" "PEX1" "0000408791" "PEX1" "0000408792" "PEX1" "0000408793" "PEX1" "0000408794" "PEX1" "0000408795" "PEX1" "0000408796" "PEX1" "0000408797" "PEX1" "0000408798" "PEX1" "0000408799" "PEX1" "0000408800" "PEX1" "0000408801" "PEX1" "0000408802" "PEX1" "0000408803" "PEX1" "0000408804" "PEX1" "0000408805" "PEX1" "0000408806" "PEX1" "0000408807" "PEX1" "0000408808" "PEX1" "0000408809" "PEX1" "0000408810" "PEX1" "0000408811" "PEX1" "0000408812" "PEX1" "0000408813" "PEX1" "0000408814" "PEX1" "0000408815" "PEX1" "0000408816" "PEX1" "0000408817" "PEX1" "0000408818" "PEX1" "0000408819" "PEX1" "0000408820" "PEX1" "0000408821" "PEX1" "0000408822" "PEX1" "0000408823" "PEX1" "0000408824" "PEX1" "0000408825" "PEX1" "0000408826" "PEX1" "0000408827" "PEX1" "0000408828" "PEX1" "0000408829" "PEX1" "0000408830" "PEX1" "0000408831" "PEX1" "0000408832" "PEX1" "0000408833" "PEX1" "0000408860" "PEX1" "0000408861" "PEX1" "0000408862" "PEX1" "0000408863" "PEX1" "0000408864" "PEX1" "0000408865" "PEX1" "0000408866" "PEX1" "0000408867" "PEX1" "0000408868" "PEX1" "0000408869" "PEX1" "0000408870" "PEX1" "0000408871" "PEX1" "0000408872" "PEX1" "0000408873" "PEX1" "0000408874" "PEX1" "0000408875" "PEX1" "0000408876" "PEX1" "0000450084" "PEX1" ## 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 = 932 "{{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}}" "0000097087" "3" "90" "7" "92118624" "92118624" "subst" "0" "01604" "PEX1_000279" "g.92118624C>T" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "variant not in 500 control chromosomes" "Germline" "yes" "" "0" "" "" "g.92489310C>T" "" "pathogenic" "" "0000097090" "3" "70" "7" "92118624" "92118624" "subst" "0" "01604" "PEX1_000279" "g.92118624C>T" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "" "" "0" "" "" "g.92489310C>T" "" "likely pathogenic" "" "0000097091" "2" "90" "7" "92132467" "92132467" "subst" "4.06521E-6" "01604" "PEX1_000282" "g.92132467A>C" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92503153A>C" "" "pathogenic" "" "0000097092" "1" "90" "7" "92132486" "92132486" "dup" "0" "01604" "PEX1_000002" "g.92132486dup" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "2097dupT" "" "Germline" "yes" "" "0" "" "" "g.92503172dup" "" "pathogenic" "" "0000097093" "2" "90" "7" "92132467" "92132467" "subst" "4.06521E-6" "01604" "PEX1_000282" "g.92132467A>C" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92503153A>C" "" "pathogenic" "" "0000097094" "1" "90" "7" "92132486" "92132486" "dup" "0" "01604" "PEX1_000002" "g.92132486dup" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92503172dup" "" "pathogenic" "" "0000097102" "2" "90" "7" "92136369" "92136369" "subst" "4.06154E-6" "01604" "PEX1_000284" "g.92136369C>G" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "" "" "0" "" "" "g.92507055C>G" "" "pathogenic" "" "0000097103" "1" "90" "7" "92146589" "92146589" "subst" "1.62617E-5" "01604" "PEX1_000054" "g.92146589C>A" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "" "" "0" "" "" "g.92517275C>A" "" "pathogenic" "" "0000097104" "1" "90" "7" "92132486" "92132486" "dup" "0" "01604" "PEX1_000002" "g.92132486dup" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic" "" "0000097105" "2" "90" "7" "92136369" "92136369" "subst" "4.06154E-6" "01604" "PEX1_000284" "g.92136369C>G" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "" "Germline" "" "" "0" "" "" "g.92507055C>G" "" "pathogenic" "" "0000115996" "1" "70" "7" "92122334" "92122334" "subst" "0" "01580" "PEX1_000280" "g.92122334A>G" "" "Submitted for publication" "" "" "" "Unknown" "yes" "" "0" "" "" "g.92493020A>G" "" "likely pathogenic" "" "0000115997" "0" "70" "7" "92122334" "92122334" "subst" "0" "01580" "PEX1_000280" "g.92122334A>G" "" "Submitted for publication" "" "" "" "Germline" "yes" "" "0" "" "" "g.92493020A>G" "" "likely pathogenic" "" "0000115998" "1" "70" "7" "92122334" "92122334" "subst" "0" "01580" "PEX1_000280" "g.92122334A>G" "" "Submitted for publication" "" "" "" "Germline" "yes" "" "0" "" "" "g.92493020A>G" "" "likely pathogenic" "" "0000115999" "1" "70" "7" "92122334" "92122334" "subst" "0" "01580" "PEX1_000280" "g.92122334A>G" "" "Submitted for publication" "" "" "" "Germline" "yes" "" "0" "" "" "g.92493020A>G" "" "likely pathogenic" "" "0000116002" "3" "70" "7" "92122334" "92122334" "subst" "0" "01580" "PEX1_000280" "g.92122334A>G" "" "Submitted for publication" "" "" "" "Germline" "yes" "" "0" "" "" "g.92493020A>G" "" "likely pathogenic" "" "0000130217" "3" "70" "7" "92123852" "92123852" "subst" "0" "01758" "PEX1_000281" "g.92123852G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.92494538G>A" "" "likely pathogenic" "ACMG" "0000164213" "0" "90" "7" "92132486" "92132486" "dup" "0" "00006" "PEX1_000002" "g.92132486dup" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "cDNA expression cloning in PEX1 defective fibroblatst showed no complementation (0.00)" "In vitro (cloned)" "-" "" "0" "" "" "g.92503172dup" "" "NA" "" "0000164214" "0" "90" "7" "92132467" "92132467" "subst" "4.06521E-6" "00006" "PEX1_000282" "g.92132467A>C" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "cDNA expression cloning in PEX1 defective fibroblatst showed reduced complementation (0.58)" "In vitro (cloned)" "" "" "0" "" "" "g.92503153A>C" "" "NA" "" "0000164215" "0" "90" "7" "92118624" "92118624" "subst" "0" "00006" "PEX1_000279" "g.92118624C>T" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "cDNA expression cloning in PEX1 defective fibroblasts showed reduced complementation (0.3)" "In vitro (cloned)" "" "" "0" "" "" "g.92489310C>T" "" "NA" "" "0000164216" "0" "90" "7" "92136369" "92136369" "subst" "2.43692E-5" "00006" "PEX1_000286" "g.92136369C>T" "" "{PMID:Ratbi 2015:26387595}, {DOI:Ratbi 2015:10.1016/j.ajhg.2015.08.011}" "" "" "cDNA expression cloning in PEX1 defective fibroblasts showed reduced complementation (0.25)" "In vitro (cloned)" "" "" "0" "" "" "g.92507055C>T" "" "NA" "" "0000246550" "0" "10" "7" "92129173" "92129173" "del" "0" "02330" "PEX1_000298" "g.92129173del" "" "" "" "PEX1(NM_000466.3):c.2584-10delT, PEX1(NM_001282678.1):c.1960-10delT, PEX1(NM_001282678.2):c.1960-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499859del" "" "benign" "" "0000246559" "0" "10" "7" "92136447" "92136447" "subst" "0.0117983" "02330" "PEX1_000132" "g.92136447A>G" "" "" "" "PEX1(NM_001282678.1):c.1047-7T>C, PEX1(NM_001282678.2):c.1047-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92507133A>G" "" "benign" "" "0000246592" "0" "10" "7" "92122372" "92122372" "subst" "0" "02330" "PEX1_000124" "g.92122372A>G" "" "" "" "PEX1(NM_001282678.2):c.2478T>C (p.H826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92493058A>G" "" "benign" "" "0000246599" "0" "10" "7" "92116813" "92116813" "subst" "0.002059" "02330" "PEX1_000121" "g.92116813A>T" "" "" "" "PEX1(NM_001282678.2):c.3186T>A (p.S1062R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92487499A>T" "" "benign" "" "0000246628" "0" "10" "7" "92120569" "92120569" "subst" "4.07352E-6" "02330" "PEX1_000123" "g.92120569A>G" "" "" "" "PEX1(NM_001282678.2):c.2814+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92491255A>G" "" "benign" "" "0000246630" "0" "10" "7" "92129172" "92129172" "subst" "0" "02330" "PEX1_000128" "g.92129172A>T" "" "" "" "PEX1(NM_001282678.2):c.1960-20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499858A>T" "" "benign" "" "0000246643" "0" "30" "7" "92140253" "92140253" "subst" "0.000153188" "02330" "PEX1_000133" "g.92140253A>G" "" "" "" "PEX1(NM_001282678.2):c.963+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92510939A>G" "" "likely benign" "" "0000246653" "0" "50" "7" "92123671" "92123671" "subst" "6.51031E-5" "02330" "PEX1_000041" "g.92123671A>G" "" "" "" "PEX1(NM_000466.3):c.2966T>C (p.I989T), PEX1(NM_001282678.1):c.2342T>C (p.I781T), PEX1(NM_001282678.2):c.2342T>C (p.I781T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92494357A>G" "" "VUS" "" "0000247929" "0" "10" "7" "92129173" "92129173" "del" "0" "02325" "PEX1_000298" "g.92129173del" "" "" "" "PEX1(NM_000466.3):c.2584-10delT, PEX1(NM_001282678.1):c.1960-10delT, PEX1(NM_001282678.2):c.1960-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499859del" "" "benign" "" "0000253190" "0" "10" "7" "92129173" "92129173" "del" "0" "01943" "PEX1_000298" "g.92129173del" "" "" "" "PEX1(NM_000466.3):c.2584-10delT, PEX1(NM_001282678.1):c.1960-10delT, PEX1(NM_001282678.2):c.1960-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499859del" "" "benign" "" "0000254170" "0" "30" "7" "92136447" "92136447" "subst" "0.0117983" "01943" "PEX1_000132" "g.92136447A>G" "" "" "" "PEX1(NM_001282678.1):c.1047-7T>C, PEX1(NM_001282678.2):c.1047-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92507133A>G" "" "likely benign" "" "0000254992" "0" "30" "7" "92140339" "92140339" "subst" "4.08851E-6" "01943" "PEX1_000134" "g.92140339A>G" "" "" "" "PEX1(NM_001282678.1):c.882T>C (p.S294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92511025A>G" "" "likely benign" "" "0000255034" "0" "30" "7" "92120808" "92120808" "subst" "0.000492623" "01943" "PEX1_000289" "g.92120808A>G" "" "" "" "PEX1(NM_001282678.1):c.2592T>C (p.S864=), PEX1(NM_001282678.2):c.2592T>C (p.S864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92491494A>G" "" "likely benign" "" "0000293665" "0" "10" "7" "92147374" "92147374" "subst" "0.0580649" "02330" "PEX1_000136" "g.92147374C>T" "" "" "" "PEX1(NM_001282678.2):c.-152-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92518060C>T" "" "benign" "" "0000293666" "0" "10" "7" "92147580" "92147580" "subst" "0.0335943" "02330" "PEX1_000138" "g.92147580C>G" "" "" "" "PEX1(NM_001282678.2):c.-267-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92518266C>G" "" "benign" "" "0000293667" "0" "30" "7" "92157600" "92157600" "subst" "0.000538221" "02330" "PEX1_000119" "g.92157600G>A" "" "" "" "PEX1(NM_001282678.2):c.-531+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92528286G>A" "" "likely benign" "" "0000293668" "0" "30" "7" "92135670" "92135670" "subst" "0.000895197" "02330" "PEX1_000107" "g.92135670T>A" "" "" "" "PEX1(NM_001282678.2):c.1180-12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92506356T>A" "" "likely benign" "" "0000293669" "0" "10" "7" "92147192" "92147192" "subst" "0.000542802" "02330" "PEX1_000113" "g.92147192G>A" "" "" "" "PEX1(NM_000466.2):c.637C>T (p.(Leu213Phe)), PEX1(NM_001282678.1):c.13C>T (p.L5F), PEX1(NM_001282678.2):c.13C>T (p.L5F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92517878G>A" "" "benign" "" "0000293670" "0" "30" "7" "92140266" "92140266" "subst" "0.00206245" "02330" "PEX1_000109" "g.92140266T>C" "" "" "" "PEX1(NM_000466.3):c.1579A>G (p.T527A), PEX1(NM_001282678.1):c.955A>G (p.T319A), PEX1(NM_001282678.2):c.955A>G (p.T319A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92510952T>C" "" "likely benign" "" "0000293671" "0" "50" "7" "92131201" "92131201" "subst" "0" "02330" "PEX1_000301" "g.92131201T>A" "" "" "" "PEX1(NM_001282678.2):c.1792+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92501887T>A" "" "VUS" "" "0000293672" "0" "30" "7" "92130962" "92130962" "subst" "0.00236094" "02330" "PEX1_000129" "g.92130962G>A" "" "" "" "PEX1(NM_001282678.1):c.1818C>T (p.F606=), PEX1(NM_001282678.2):c.1818C>T (p.F606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92501648G>A" "" "likely benign" "" "0000293674" "0" "10" "7" "92129172" "92129173" "del" "0" "02330" "PEX1_000299" "g.92129172_92129173del" "" "" "" "PEX1(NM_001282678.1):c.1960-11_1960-10delTT, PEX1(NM_001282678.2):c.1960-11_1960-10delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499858_92499859del" "" "benign" "" "0000293675" "0" "10" "7" "92129173" "92129173" "dup" "0" "02330" "PEX1_000297" "g.92129173dup" "" "" "" "PEX1(NM_001282678.1):c.1960-10dupT, PEX1(NM_001282678.2):c.1960-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499859dup" "" "benign" "" "0000293678" "0" "10" "7" "92132493" "92132493" "subst" "0.0271386" "02330" "PEX1_000037" "g.92132493T>C" "" "" "" "PEX1(NM_000466.3):c.2088A>G (p.I696M), PEX1(NM_001282678.2):c.1464A>G (p.I488M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92503179T>C" "" "benign" "" "0000293679" "0" "10" "7" "92129015" "92129015" "subst" "0.00234177" "02330" "PEX1_000126" "g.92129015T>C" "" "" "" "PEX1(NM_001282678.1):c.2094+3A>G, PEX1(NM_001282678.2):c.2094+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499701T>C" "" "benign" "" "0000293681" "0" "10" "7" "92123826" "92123826" "subst" "0.00172688" "02330" "PEX1_000291" "g.92123826C>T" "" "" "" "PEX1(NM_001282678.1):c.2277G>A (p.Q759=), PEX1(NM_001282678.2):c.2277G>A (p.Q759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92494512C>T" "" "benign" "" "0000293682" "0" "10" "7" "92131289" "92131289" "subst" "0.921118" "02330" "PEX1_000038" "g.92131289G>T" "" "" "" "PEX1(NM_000466.3):c.2331C>A (p.G777=), PEX1(NM_001282678.1):c.1707C>A (p.G569=), PEX1(NM_001282678.2):c.1707C>A (p.G569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92501975G>T" "" "benign" "" "0000293683" "0" "10" "7" "92119238" "92119239" "del" "0.0270119" "02330" "PEX1_000288" "g.92119238_92119239del" "" "" "" "PEX1(NM_001282678.2):c.2815-14_2815-13delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92489924_92489925del" "" "benign" "" "0000293684" "0" "10" "7" "92148336" "92148336" "subst" "0.00223858" "02330" "PEX1_000118" "g.92148336G>C" "" "" "" "PEX1(NM_000466.2):c.330C>G (p.P110=), PEX1(NM_000466.3):c.330C>G (p.P110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92519022G>C" "" "benign" "" "0000293685" "0" "10" "7" "92147584" "92147584" "subst" "0.88229" "02330" "PEX1_000117" "g.92147584C>T" "" "" "" "PEX1(NM_000466.3):c.358-15G>A, PEX1(NM_001282678.1):c.-267-15G>A, PEX1(NM_001282678.2):c.-267-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92518270C>T" "" "benign" "" "0000293686" "0" "30" "7" "92147527" "92147527" "subst" "4.0621E-6" "02330" "PEX1_000116" "g.92147527T>C" "" "" "" "PEX1(NM_000466.3):c.400A>G (p.I134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92518213T>C" "" "likely benign" "" "0000293687" "0" "10" "7" "92146687" "92146687" "subst" "0.00174266" "02330" "PEX1_000135" "g.92146687G>T" "" "" "" "PEX1(NM_001282678.1):c.518C>A (p.A173D), PEX1(NM_001282678.2):c.518C>A (p.A173D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92517373G>T" "" "benign" "" "0000293688" "0" "10" "7" "92140324" "92140324" "subst" "0.00171771" "02330" "PEX1_000110" "g.92140324C>G" "" "" "" "PEX1(NM_001282678.1):c.897G>C (p.W299C), PEX1(NM_001282678.2):c.897G>C (p.W299C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92511010C>G" "" "benign" "" "0000296890" "0" "30" "7" "92140266" "92140266" "subst" "0.00206245" "02325" "PEX1_000109" "g.92140266T>C" "" "" "" "PEX1(NM_000466.3):c.1579A>G (p.T527A), PEX1(NM_001282678.1):c.955A>G (p.T319A), PEX1(NM_001282678.2):c.955A>G (p.T319A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92510952T>C" "" "likely benign" "" "0000296891" "0" "50" "7" "92129061" "92129061" "subst" "8.12401E-6" "02325" "PEX1_000293" "g.92129061C>T" "" "" "" "PEX1(NM_000466.2):c.2675G>A (p.(Gly892Glu)), PEX1(NM_001282678.1):c.2051G>A (p.G684E), PEX1(NM_001282678.2):c.2051G>A (p.G684E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499747C>T" "" "VUS" "" "0000296892" "0" "10" "7" "92132493" "92132493" "subst" "0.0271386" "02325" "PEX1_000037" "g.92132493T>C" "" "" "" "PEX1(NM_000466.3):c.2088A>G (p.I696M), PEX1(NM_001282678.2):c.1464A>G (p.I488M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92503179T>C" "" "benign" "" "0000296894" "0" "50" "7" "92126067" "92126067" "subst" "4.0704E-6" "02325" "PEX1_000292" "g.92126067T>A" "" "" "" "PEX1(NM_001282678.2):c.2119A>T (p.I707F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92496753T>A" "" "VUS" "" "0000296895" "0" "10" "7" "92131289" "92131289" "subst" "0.921118" "02325" "PEX1_000038" "g.92131289G>T" "" "" "" "PEX1(NM_000466.3):c.2331C>A (p.G777=), PEX1(NM_001282678.1):c.1707C>A (p.G569=), PEX1(NM_001282678.2):c.1707C>A (p.G569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92501975G>T" "" "benign" "" "0000296896" "0" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02325" "PEX1_000009" "g.92130876C>T" "" "" "" "PEX1(NM_000466.2):c.2528G>A (p.G843D), PEX1(NM_000466.3):c.2528G>A (p.G843D, p.(Gly843Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic" "" "0000296897" "0" "10" "7" "92147584" "92147584" "subst" "0.88229" "02325" "PEX1_000117" "g.92147584C>T" "" "" "" "PEX1(NM_000466.3):c.358-15G>A, PEX1(NM_001282678.1):c.-267-15G>A, PEX1(NM_001282678.2):c.-267-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92518270C>T" "" "benign" "" "0000300720" "0" "30" "7" "92132493" "92132493" "subst" "0.0271386" "02326" "PEX1_000037" "g.92132493T>C" "" "" "" "PEX1(NM_000466.3):c.2088A>G (p.I696M), PEX1(NM_001282678.2):c.1464A>G (p.I488M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92503179T>C" "" "likely benign" "" "0000300721" "0" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02326" "PEX1_000009" "g.92130876C>T" "" "" "" "PEX1(NM_000466.2):c.2528G>A (p.G843D), PEX1(NM_000466.3):c.2528G>A (p.G843D, p.(Gly843Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic" "" "0000300722" "0" "10" "7" "92119238" "92119239" "del" "0.0270119" "02326" "PEX1_000288" "g.92119238_92119239del" "" "" "" "PEX1(NM_001282678.2):c.2815-14_2815-13delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92489924_92489925del" "" "benign" "" "0000305457" "0" "10" "7" "92147359" "92147359" "subst" "0.00504036" "01943" "PEX1_000114" "g.92147359G>A" "" "" "" "PEX1(NM_001282678.1):c.-152-3C>T, PEX1(NM_001282678.2):c.-152-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92518045G>A" "" "benign" "" "0000305458" "0" "30" "7" "92140266" "92140266" "subst" "0.00206245" "01943" "PEX1_000109" "g.92140266T>C" "" "" "" "PEX1(NM_000466.3):c.1579A>G (p.T527A), PEX1(NM_001282678.1):c.955A>G (p.T319A), PEX1(NM_001282678.2):c.955A>G (p.T319A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92510952T>C" "" "likely benign" "" "0000305459" "0" "30" "7" "92131349" "92131349" "subst" "0.000724201" "01943" "PEX1_000104" "g.92131349C>G" "" "" "" "PEX1(NM_000466.2):c.2271G>C (p.(Leu757Phe)), PEX1(NM_001282678.1):c.1647G>C (p.L549F), PEX1(NM_001282678.2):c.1647G>C (p.L549F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92502035C>G" "" "likely benign" "" "0000305460" "0" "30" "7" "92130962" "92130962" "subst" "0.00236094" "01943" "PEX1_000129" "g.92130962G>A" "" "" "" "PEX1(NM_001282678.1):c.1818C>T (p.F606=), PEX1(NM_001282678.2):c.1818C>T (p.F606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92501648G>A" "" "likely benign" "" "0000305461" "0" "30" "7" "92130933" "92130933" "subst" "1.62537E-5" "01943" "PEX1_000300" "g.92130933G>A" "" "" "" "PEX1(NM_001282678.1):c.1847C>T (p.A616V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92501619G>A" "" "likely benign" "" "0000305462" "0" "30" "7" "92129161" "92129161" "subst" "0" "01943" "PEX1_000296" "g.92129161C>A" "" "" "" "PEX1(NM_001282678.1):c.1960-10_1960-9delTGinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499847C>A" "" "likely benign" "" "0000305464" "0" "10" "7" "92129172" "92129173" "del" "0" "01943" "PEX1_000299" "g.92129172_92129173del" "" "" "" "PEX1(NM_001282678.1):c.1960-11_1960-10delTT, PEX1(NM_001282678.2):c.1960-11_1960-10delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499858_92499859del" "" "benign" "" "0000305465" "0" "30" "7" "92129173" "92129173" "dup" "0" "01943" "PEX1_000297" "g.92129173dup" "" "" "" "PEX1(NM_001282678.1):c.1960-10dupT, PEX1(NM_001282678.2):c.1960-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499859dup" "" "likely benign" "" "0000305466" "0" "30" "7" "92129157" "92129157" "del" "0" "01943" "PEX1_000294" "g.92129157del" "" "" "" "PEX1(NM_001282678.1):c.1960-5delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499843del" "" "likely benign" "" "0000305467" "0" "50" "7" "92129061" "92129061" "subst" "8.12401E-6" "01943" "PEX1_000293" "g.92129061C>T" "" "" "" "PEX1(NM_000466.2):c.2675G>A (p.(Gly892Glu)), PEX1(NM_001282678.1):c.2051G>A (p.G684E), PEX1(NM_001282678.2):c.2051G>A (p.G684E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499747C>T" "" "VUS" "" "0000305469" "0" "30" "7" "92123826" "92123826" "subst" "0.00172688" "01943" "PEX1_000291" "g.92123826C>T" "" "" "" "PEX1(NM_001282678.1):c.2277G>A (p.Q759=), PEX1(NM_001282678.2):c.2277G>A (p.Q759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92494512C>T" "" "likely benign" "" "0000305470" "0" "50" "7" "92122404" "92122404" "subst" "8.13974E-6" "01943" "PEX1_000125" "g.92122404G>C" "" "" "" "PEX1(NM_001282678.1):c.2446C>G (p.L816V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92493090G>C" "" "VUS" "" "0000305471" "0" "50" "7" "92119161" "92119161" "subst" "0.000304952" "01943" "PEX1_000122" "g.92119161T>C" "" "" "" "PEX1(NM_001282678.1):c.2879A>G (p.D960G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92489847T>C" "" "VUS" "" "0000305472" "0" "30" "7" "92116849" "92116849" "subst" "0" "01943" "PEX1_000287" "g.92116849T>A" "" "" "" "PEX1(NM_001282678.1):c.3150A>T (p.E1050D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92487535T>A" "" "likely benign" "" "0000305473" "0" "30" "7" "92148336" "92148336" "subst" "0.00223858" "01943" "PEX1_000118" "g.92148336G>C" "" "" "" "PEX1(NM_000466.2):c.330C>G (p.P110=), PEX1(NM_000466.3):c.330C>G (p.P110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92519022G>C" "" "likely benign" "" "0000305474" "0" "30" "7" "92147474" "92147474" "subst" "1.62488E-5" "01943" "PEX1_000137" "g.92147474C>T" "" "" "" "PEX1(NM_000466.2):c.453G>A (p.T151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92518160C>T" "" "likely benign" "" "0000305475" "0" "30" "7" "92147459" "92147459" "subst" "0.000544322" "01943" "PEX1_000115" "g.92147459T>C" "" "" "" "PEX1(NM_000466.2):c.468A>G (p.Q156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92518145T>C" "" "likely benign" "" "0000305476" "0" "30" "7" "92140324" "92140324" "subst" "0.00171771" "01943" "PEX1_000110" "g.92140324C>G" "" "" "" "PEX1(NM_001282678.1):c.897G>C (p.W299C), PEX1(NM_001282678.2):c.897G>C (p.W299C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92511010C>G" "" "likely benign" "" "0000331679" "0" "50" "7" "92129061" "92129061" "subst" "8.12401E-6" "01804" "PEX1_000293" "g.92129061C>T" "" "" "" "PEX1(NM_000466.2):c.2675G>A (p.(Gly892Glu)), PEX1(NM_001282678.1):c.2051G>A (p.G684E), PEX1(NM_001282678.2):c.2051G>A (p.G684E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92499747C>T" "" "VUS" "" "0000331681" "0" "50" "7" "92130946" "92130946" "subst" "0.00010971" "01804" "PEX1_000155" "g.92130946C>T" "" "" "" "PEX1(NM_000466.2):c.2458G>A (p.(Gly820Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92501632C>T" "" "VUS" "" "0000331682" "0" "50" "7" "92131371" "92131371" "subst" "1.22516E-5" "01804" "PEX1_000156" "g.92131371C>A" "" "" "" "PEX1(NM_000466.2):c.2249G>T (p.(Cys750Phe)), PEX1(NM_001282678.1):c.1625G>T (p.C542F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92502057C>A" "" "VUS" "" "0000331683" "0" "90" "7" "92132486" "92132486" "dup" "0" "01804" "PEX1_000002" "g.92132486dup" "" "" "" "PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92503172dup" "" "pathogenic" "" "0000331685" "0" "50" "7" "92143197" "92143197" "subst" "0.000252287" "01804" "PEX1_000111" "g.92143197G>A" "" "" "" "PEX1(NM_000466.2):c.1324C>T (p.(Pro442Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92513883G>A" "" "VUS" "" "0000331687" "0" "30" "7" "92146909" "92146909" "subst" "2.44077E-5" "01804" "PEX1_000167" "g.92146909T>G" "" "" "" "PEX1(NM_000466.2):c.920A>C (p.(His307Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92517595T>G" "" "likely benign" "" "0000331689" "0" "50" "7" "92147143" "92147143" "subst" "2.12562E-5" "01804" "PEX1_000170" "g.92147143T>C" "" "" "" "PEX1(NM_000466.2):c.686A>G (p.(Asn229Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92517829T>C" "" "VUS" "" "0000331690" "0" "30" "7" "92147192" "92147192" "subst" "0.000542802" "01804" "PEX1_000113" "g.92147192G>A" "" "" "" "PEX1(NM_000466.2):c.637C>T (p.(Leu213Phe)), PEX1(NM_001282678.1):c.13C>T (p.L5F), PEX1(NM_001282678.2):c.13C>T (p.L5F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92517878G>A" "" "likely benign" "" "0000331691" "0" "50" "7" "92147202" "92147202" "subst" "0.000198429" "01804" "PEX1_000172" "g.92147202C>T" "" "" "" "PEX1(NM_000466.2):c.627G>A (p.(Met209Ile)), PEX1(NM_001282678.1):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92517888C>T" "" "VUS" "" "0000341663" "0" "70" "7" "92122437" "92122437" "subst" "0" "02327" "PEX1_000120" "g.92122437G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92493123G>A" "" "likely pathogenic" "" "0000346297" "0" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02327" "PEX1_000009" "g.92130876C>T" "" "" "" "PEX1(NM_000466.2):c.2528G>A (p.G843D), PEX1(NM_000466.3):c.2528G>A (p.G843D, p.(Gly843Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic" "" "0000532999" "0" "30" "7" "92118618" "92118618" "subst" "9.77278E-5" "01943" "PEX1_000139" "g.92118618A>T" "" "" "" "PEX1(NM_001282678.1):c.3132T>A (p.N1044K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92489304A>T" "" "likely benign" "" "0000533000" "0" "10" "7" "92118654" "92118654" "subst" "0.00119269" "02330" "PEX1_000140" "g.92118654G>A" "" "" "" "PEX1(NM_000466.3):c.3720C>T (p.H1240=), PEX1(NM_001282678.2):c.3096C>T (p.H1032=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92489340G>A" "" "benign" "" "0000533001" "0" "50" "7" "92118735" "92118735" "subst" "0" "02330" "PEX1_000141" "g.92118735C>G" "" "" "" "PEX1(NM_001282678.2):c.3015G>C (p.E1005D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92489421C>G" "" "VUS" "" "0000533002" "0" "50" "7" "92118740" "92118740" "subst" "0" "02330" "PEX1_000142" "g.92118740T>C" "" "" "" "PEX1(NM_001282678.2):c.3013-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92489426T>C" "" "VUS" "" "0000533004" "0" "30" "7" "92120598" "92120598" "subst" "0.000374127" "02330" "PEX1_000144" "g.92120598G>A" "" "" "" "PEX1(NM_001282678.1):c.2802C>T (p.T934=), PEX1(NM_001282678.2):c.2802C>T (p.T934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92491284G>A" "" "likely benign" "" "0000533005" "0" "50" "7" "92120605" "92120610" "del" "0" "01943" "PEX1_000145" "g.92120605_92120610del" "" "" "" "PEX1(NM_001282678.1):c.2795_2800delATGGAA (p.N932_G933del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92491291_92491296del" "" "VUS" "" "0000533006" "0" "50" "7" "92120605" "92120610" "del" "0" "02327" "PEX1_000145" "g.92120605_92120610del" "" "" "" "PEX1(NM_001282678.1):c.2795_2800delATGGAA (p.N932_G933del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92491291_92491296del" "" "VUS" "" "0000533008" "0" "30" "7" "92120808" "92120808" "subst" "0.000492623" "02330" "PEX1_000289" "g.92120808A>G" "" "" "" "PEX1(NM_001282678.1):c.2592T>C (p.S864=), PEX1(NM_001282678.2):c.2592T>C (p.S864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92491494A>G" "" "likely benign" "" "0000533009" "0" "70" "7" "92122269" "92122269" "subst" "0" "01804" "PEX1_000148" "g.92122269G>A" "" "" "" "PEX1(NM_000466.2):c.3205C>T (p.(Gln1069Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92492955G>A" "" "likely pathogenic" "" "0000533010" "0" "30" "7" "92123588" "92123588" "subst" "0.000173562" "02330" "PEX1_000149" "g.92123588C>G" "" "" "" "PEX1(NM_001282678.2):c.2406+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92494274C>G" "" "likely benign" "" "0000533011" "0" "70" "7" "92123671" "92123671" "subst" "6.51031E-5" "02327" "PEX1_000041" "g.92123671A>G" "" "" "" "PEX1(NM_000466.3):c.2966T>C (p.I989T), PEX1(NM_001282678.1):c.2342T>C (p.I781T), PEX1(NM_001282678.2):c.2342T>C (p.I781T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92494357A>G" "" "likely pathogenic" "" "0000533012" "0" "10" "7" "92123685" "92123685" "subst" "0" "02330" "PEX1_000151" "g.92123685A>G" "" "" "" "PEX1(NM_001282678.2):c.2328T>C (p.S776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92494371A>G" "" "benign" "" "0000533013" "0" "10" "7" "92123793" "92123793" "subst" "0.000182891" "02330" "PEX1_000152" "g.92123793A>G" "" "" "" "PEX1(NM_001282678.1):c.2302+8T>C, PEX1(NM_001282678.2):c.2302+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92494479A>G" "" "benign" "" "0000533014" "0" "30" "7" "92123793" "92123793" "subst" "0.000182891" "01943" "PEX1_000152" "g.92123793A>G" "" "" "" "PEX1(NM_001282678.1):c.2302+8T>C, PEX1(NM_001282678.2):c.2302+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92494479A>G" "" "likely benign" "" "0000533015" "0" "50" "7" "92123938" "92123938" "subst" "9.36101E-5" "01943" "PEX1_000153" "g.92123938T>C" "" "" "" "PEX1(NM_001282678.1):c.2165A>G (p.Q722R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92494624T>C" "" "VUS" "" "0000533016" "0" "50" "7" "92123942" "92123942" "subst" "4.07027E-6" "01943" "PEX1_000154" "g.92123942C>T" "" "" "" "PEX1(NM_001282678.1):c.2161G>A (p.A721T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92494628C>T" "" "VUS" "" "0000533017" "0" "10" "7" "92129015" "92129015" "subst" "0.00234177" "01943" "PEX1_000126" "g.92129015T>C" "" "" "" "PEX1(NM_001282678.1):c.2094+3A>G, PEX1(NM_001282678.2):c.2094+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92499701T>C" "" "benign" "" "0000533019" "0" "10" "7" "92131289" "92131289" "subst" "0.921118" "01943" "PEX1_000038" "g.92131289G>T" "" "" "" "PEX1(NM_000466.3):c.2331C>A (p.G777=), PEX1(NM_001282678.1):c.1707C>A (p.G569=), PEX1(NM_001282678.2):c.1707C>A (p.G569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92501975G>T" "" "benign" "" "0000533020" "0" "50" "7" "92131349" "92131349" "subst" "0.000724201" "02330" "PEX1_000104" "g.92131349C>G" "" "" "" "PEX1(NM_000466.2):c.2271G>C (p.(Leu757Phe)), PEX1(NM_001282678.1):c.1647G>C (p.L549F), PEX1(NM_001282678.2):c.1647G>C (p.L549F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92502035C>G" "" "VUS" "" "0000533021" "0" "30" "7" "92131349" "92131349" "subst" "0.000724201" "01804" "PEX1_000104" "g.92131349C>G" "" "" "" "PEX1(NM_000466.2):c.2271G>C (p.(Leu757Phe)), PEX1(NM_001282678.1):c.1647G>C (p.L549F), PEX1(NM_001282678.2):c.1647G>C (p.L549F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92502035C>G" "" "likely benign" "" "0000533022" "0" "50" "7" "92132381" "92132381" "subst" "0.000284601" "02330" "PEX1_000157" "g.92132381C>T" "" "" "" "PEX1(NM_001282678.2):c.1576G>A (p.V526I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92503067C>T" "" "VUS" "" "0000533023" "0" "90" "7" "92132486" "92132486" "dup" "0" "02330" "PEX1_000002" "g.92132486dup" "" "" "" "PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92503172dup" "" "pathogenic" "" "0000533024" "0" "90" "7" "92132486" "92132486" "dup" "0" "01943" "PEX1_000002" "g.92132486dup" "" "" "" "PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92503172dup" "" "pathogenic" "" "0000533025" "0" "90" "7" "92132486" "92132486" "dup" "0" "02325" "PEX1_000002" "g.92132486dup" "" "" "" "PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92503172dup" "" "pathogenic" "" "0000533027" "0" "50" "7" "92134058" "92134058" "subst" "8.13981E-5" "01943" "PEX1_000158" "g.92134058G>A" "" "" "" "PEX1(NM_001282678.1):c.1435C>T (p.R479W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92504744G>A" "" "VUS" "" "0000533028" "0" "70" "7" "92134147" "92134147" "subst" "8.12916E-6" "02325" "PEX1_000159" "g.92134147G>A" "" "" "" "PEX1(NM_001282678.2):c.1346C>T (p.S449F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92504833G>A" "" "likely pathogenic" "" "0000533029" "0" "70" "7" "92138638" "92138638" "subst" "0" "01804" "PEX1_000026" "g.92138638C>A" "" "" "" "PEX1(NM_000466.2):c.1670+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92509324C>A" "" "likely pathogenic" "" "0000533031" "0" "30" "7" "92141021" "92141021" "subst" "0.000363678" "02330" "PEX1_000162" "g.92141021C>A" "" "" "" "PEX1(NM_000466.2):c.1360-4G>T (p.?), PEX1(NM_000466.3):c.1360-4G>T, PEX1(NM_001282678.1):c.736-4G>T, PEX1(NM_001282678.2):c.736-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92511707C>A" "" "likely benign" "" "0000533032" "0" "50" "7" "92141021" "92141021" "subst" "0.000363678" "01943" "PEX1_000162" "g.92141021C>A" "" "" "" "PEX1(NM_000466.2):c.1360-4G>T (p.?), PEX1(NM_000466.3):c.1360-4G>T, PEX1(NM_001282678.1):c.736-4G>T, PEX1(NM_001282678.2):c.736-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92511707C>A" "" "VUS" "" "0000533033" "0" "30" "7" "92141021" "92141021" "subst" "0.000363678" "01804" "PEX1_000162" "g.92141021C>A" "" "" "" "PEX1(NM_000466.2):c.1360-4G>T (p.?), PEX1(NM_000466.3):c.1360-4G>T, PEX1(NM_001282678.1):c.736-4G>T, PEX1(NM_001282678.2):c.736-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92511707C>A" "" "likely benign" "" "0000533034" "0" "30" "7" "92143240" "92143240" "subst" "0" "01943" "PEX1_000163" "g.92143240A>C" "" "" "" "PEX1(NM_001282678.1):c.657T>G (p.H219Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92513926A>C" "" "likely benign" "" "0000533035" "0" "50" "7" "92143244" "92143244" "subst" "8.15907E-6" "01943" "PEX1_000164" "g.92143244A>G" "" "" "" "PEX1(NM_001282678.1):c.653T>C (p.M218T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92513930A>G" "" "VUS" "" "0000533036" "0" "10" "7" "92146687" "92146687" "subst" "0.00174266" "01943" "PEX1_000135" "g.92146687G>T" "" "" "" "PEX1(NM_001282678.1):c.518C>A (p.A173D), PEX1(NM_001282678.2):c.518C>A (p.A173D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92517373G>T" "" "benign" "" "0000533037" "0" "30" "7" "92146890" "92146890" "subst" "0.000573595" "01943" "PEX1_000165" "g.92146890A>G" "" "" "" "PEX1(NM_001282678.1):c.315T>C (p.H105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92517576A>G" "" "likely benign" "" "0000533039" "0" "30" "7" "92146932" "92146932" "subst" "4.06716E-5" "02330" "PEX1_000168" "g.92146932G>A" "" "" "" "PEX1(NM_001282678.2):c.273C>T (p.N91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92517618G>A" "" "likely benign" "" "0000533040" "0" "10" "7" "92147017" "92147017" "subst" "0.00205917" "01943" "PEX1_000169" "g.92147017T>C" "" "" "" "PEX1(NM_000466.2):c.812A>G (p.(Asn271Ser)), PEX1(NM_001282678.1):c.188A>G (p.N63S), PEX1(NM_001282678.2):c.188A>G (p.N63S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92517703T>C" "" "benign" "" "0000533041" "0" "30" "7" "92147017" "92147017" "subst" "0.00205917" "01804" "PEX1_000169" "g.92147017T>C" "" "" "" "PEX1(NM_000466.2):c.812A>G (p.(Asn271Ser)), PEX1(NM_001282678.1):c.188A>G (p.N63S), PEX1(NM_001282678.2):c.188A>G (p.N63S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92517703T>C" "" "likely benign" "" "0000533042" "0" "30" "7" "92147184" "92147184" "subst" "0.000209772" "02330" "PEX1_000171" "g.92147184G>C" "" "" "" "PEX1(NM_001282678.2):c.21C>G (p.T7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92517870G>C" "" "likely benign" "" "0000533043" "0" "30" "7" "92147192" "92147192" "subst" "0.000542802" "01943" "PEX1_000113" "g.92147192G>A" "" "" "" "PEX1(NM_000466.2):c.637C>T (p.(Leu213Phe)), PEX1(NM_001282678.1):c.13C>T (p.L5F), PEX1(NM_001282678.2):c.13C>T (p.L5F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92517878G>A" "" "likely benign" "" "0000533044" "0" "50" "7" "92147202" "92147202" "subst" "0.000198429" "01943" "PEX1_000172" "g.92147202C>T" "" "" "" "PEX1(NM_000466.2):c.627G>A (p.(Met209Ile)), PEX1(NM_001282678.1):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92517888C>T" "" "VUS" "" "0000533045" "0" "50" "7" "92147255" "92147255" "subst" "0" "01943" "PEX1_000173" "g.92147255C>T" "" "" "" "PEX1(NM_000466.2):c.574G>A (p.A192T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92517941C>T" "" "VUS" "" "0000533047" "0" "50" "7" "92147470" "92147470" "subst" "0" "02325" "PEX1_000175" "g.92147470T>G" "" "" "" "PEX1(NM_000466.3):c.457A>C (p.I153L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92518156T>G" "" "VUS" "" "0000533048" "0" "50" "7" "92147472" "92147472" "subst" "0" "01943" "PEX1_000176" "g.92147472T>C" "" "" "" "PEX1(NM_000466.2):c.455A>G (p.Y152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92518158T>C" "" "VUS" "" "0000533049" "0" "10" "7" "92147584" "92147584" "subst" "0.88229" "01943" "PEX1_000117" "g.92147584C>T" "" "" "" "PEX1(NM_000466.3):c.358-15G>A, PEX1(NM_001282678.1):c.-267-15G>A, PEX1(NM_001282678.2):c.-267-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92518270C>T" "" "benign" "" "0000533051" "0" "50" "7" "92151466" "92151466" "subst" "0.000121836" "01943" "PEX1_000178" "g.92151466C>T" "" "" "" "PEX1(NM_000466.2):c.223G>A (p.E75K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92522152C>T" "" "VUS" "" "0000533052" "0" "30" "7" "92151542" "92151542" "subst" "4.06243E-5" "02330" "PEX1_000179" "g.92151542C>T" "" "" "" "PEX1(NM_000466.2):c.147G>A (p.V49=), PEX1(NM_000466.3):c.147G>A (p.V49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92522228C>T" "" "likely benign" "" "0000602984" "3" "70" "7" "92120615" "92120615" "subst" "0" "01164" "PEX1_000183" "g.92120615C>A" "" "" "" "" "ACMG: PVS1,PM2" "Germline" "" "" "0" "" "" "g.92491301C>A" "" "likely pathogenic" "ACMG" "0000611301" "0" "50" "7" "92123671" "92123671" "subst" "6.51031E-5" "01943" "PEX1_000041" "g.92123671A>G" "" "" "" "PEX1(NM_000466.3):c.2966T>C (p.I989T), PEX1(NM_001282678.1):c.2342T>C (p.I781T), PEX1(NM_001282678.2):c.2342T>C (p.I781T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92494357A>G" "" "VUS" "" "0000611302" "0" "90" "7" "92132486" "92132486" "dup" "0" "02327" "PEX1_000002" "g.92132486dup" "" "" "" "PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92503172dup" "" "pathogenic" "" "0000611303" "0" "50" "7" "92134198" "92134198" "subst" "8.12823E-6" "01943" "PEX1_000186" "g.92134198A>G" "" "" "" "PEX1(NM_001282678.1):c.1295T>C (p.I432T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92504884A>G" "" "VUS" "" "0000611304" "0" "90" "7" "92136399" "92136402" "del" "0" "01943" "PEX1_000093" "g.92136399_92136402del" "" "" "" "PEX1(NM_001282678.1):c.1089_1092delTCAC (p.H364Afs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92507085_92507088del" "" "pathogenic" "" "0000611305" "0" "30" "7" "92138636" "92138636" "subst" "0" "01804" "PEX1_000188" "g.92138636T>G" "" "" "" "PEX1(NM_000466.2):c.1670+7A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92509322T>G" "" "likely benign" "" "0000611306" "0" "30" "7" "92140266" "92140266" "subst" "0.00206245" "02327" "PEX1_000109" "g.92140266T>C" "" "" "" "PEX1(NM_000466.3):c.1579A>G (p.T527A), PEX1(NM_001282678.1):c.955A>G (p.T319A), PEX1(NM_001282678.2):c.955A>G (p.T319A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92510952T>C" "" "likely benign" "" "0000611307" "0" "30" "7" "92141021" "92141021" "subst" "0.000363678" "02325" "PEX1_000162" "g.92141021C>A" "" "" "" "PEX1(NM_000466.2):c.1360-4G>T (p.?), PEX1(NM_000466.3):c.1360-4G>T, PEX1(NM_001282678.1):c.736-4G>T, PEX1(NM_001282678.2):c.736-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92511707C>A" "" "likely benign" "" "0000611308" "0" "50" "7" "92147059" "92147059" "subst" "0" "02330" "PEX1_000190" "g.92147059G>A" "" "" "" "PEX1(NM_001282678.2):c.146C>T (p.S49F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92517745G>A" "" "VUS" "" "0000611309" "0" "10" "7" "92147359" "92147359" "subst" "0.00504036" "02330" "PEX1_000114" "g.92147359G>A" "" "" "" "PEX1(NM_001282678.1):c.-152-3C>T, PEX1(NM_001282678.2):c.-152-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92518045G>A" "" "benign" "" "0000611310" "0" "50" "7" "92147515" "92147515" "subst" "0" "01943" "PEX1_000191" "g.92147515A>G" "" "" "" "PEX1(NM_000466.2):c.412T>C (p.F138L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92518201A>G" "" "VUS" "" "0000611311" "0" "10" "7" "92157802" "92157802" "subst" "0" "02327" "PEX1_000036" "g.92157802G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92528488G>C" "" "benign" "" "0000621948" "0" "50" "7" "92120645" "92120645" "subst" "2.03222E-5" "02330" "PEX1_000184" "g.92120645G>A" "" "" "" "PEX1(NM_001282678.2):c.2755C>T (p.R919W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92491331G>A" "" "VUS" "" "0000621950" "0" "50" "7" "92141003" "92141003" "subst" "8.14299E-6" "01943" "PEX1_000189" "g.92141003A>C" "" "" "" "PEX1(NM_001282678.1):c.750T>G (p.S250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92511689A>C" "" "VUS" "" "0000624903" "3" "90" "7" "92147524" "92147524" "subst" "0" "01807" "PEX1_000193" "g.92147524G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.92518210G>A" "" "pathogenic" "" "0000640511" "2" "90" "7" "92118638" "92118642" "dup" "0" "00004" "PEX1_000057" "g.92118638_92118642dup" "" "{PMID:Yik 2009:19105186}" "" "3732_3736dupCATTA" "" "Germline" "" "" "0" "" "" "g.92489324_92489328dup" "" "pathogenic (recessive)" "" "0000640512" "1" "55" "7" "92118660" "92118660" "subst" "0" "00004" "PEX1_000196" "g.92118660A>G" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "Germline" "" "" "0" "" "" "g.92489346A>G" "" "VUS" "" "0000640513" "3" "90" "7" "92118664" "92118664" "subst" "4.06894E-6" "00004" "PEX1_000059" "g.92118664G>T" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.92489350G>T" "" "pathogenic (recessive)" "" "0000640514" "1" "90" "7" "92118683" "92118686" "del" "0" "00004" "PEX1_000066" "g.92118683_92118686del" "" "{PMID:Ebberink 2011:21031596}" "" "3692_3695delAGTC" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92489369_92489372del" "" "pathogenic (recessive)" "" "0000640515" "1" "99" "7" "92119149" "92119161" "del" "0" "00004" "PEX1_000199" "g.92119149_92119161del" "" "{DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.92489835_92489847del" "" "pathogenic" "" "0000640517" "1" "90" "7" "92122294" "92122294" "dup" "0" "00004" "PEX1_000033" "g.92122294dup" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "3180_3181insT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92492980dup" "" "pathogenic (recessive)" "" "0000640522" "1" "90" "7" "92122350" "92122350" "subst" "0" "00004" "PEX1_000206" "g.92122350A>C" "" "{PMID:Thoms 2011:21846392}" "" "3124A>C" "" "Germline" "" "" "0" "" "" "g.92493036A>C" "" "pathogenic (recessive)" "" "0000640523" "1" "90" "7" "92122436" "92122436" "subst" "0" "00004" "PEX1_000071" "g.92122436C>T" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "" "Germline" "" "" "0" "" "" "g.92493122C>T" "" "pathogenic (recessive)" "" "0000640524" "1" "90" "7" "92122437" "92122437" "subst" "0" "00004" "PEX1_000208" "g.92122437G>C" "" "{PMID:Thoms 2011:21846392}" "" "" "" "Germline" "" "" "0" "" "" "g.92493123G>C" "" "pathogenic (recessive)" "" "0000640525" "1" "99" "7" "92123607" "92123607" "subst" "0" "00004" "PEX1_000209" "g.92123607C>A" "" "{DB:DVD}, {PMID:Mohebbi 2012:22378672}" "" "" "" "Germline" "" "" "0" "" "" "g.92494293C>A" "" "pathogenic" "" "0000640526" "1" "90" "7" "92123620" "92123622" "del" "0" "00004" "PEX1_000048" "g.92123620_92123622del" "" "{PMID:Yik 2009:19105186}" "" "3022_3024delCCT" "" "Germline" "" "" "0" "" "" "g.92494306_92494308del" "" "pathogenic (recessive)" "" "0000640529" "3" "90" "7" "92148392" "92148392" "subst" "0" "00004" "PEX1_000265" "g.92148392C>G" "" "{PMID:Thoms 2011:21846392}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000640532" "1" "99" "7" "92123799" "92123799" "dup" "0" "00004" "PEX1_000032" "g.92123799dup" "" "{DB:DVD}, {PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "g.92494485dup" "" "pathogenic" "" "0000640533" "1" "90" "7" "92123800" "92123800" "subst" "2.03198E-5" "00004" "PEX1_000018" "g.92123800C>T" "" "{DB:DVD}, , {PMID:Portsteffen 1997:9398848}" "" "" "" "Germline" "" "" "0" "" "" "g.92494486C>T" "" "pathogenic (recessive)" "" "0000640534" "1" "90" "7" "92123812" "92123812" "del" "0" "00004" "PEX1_000007" "g.92123812del" "" "{PMID:Thoms 2011:21846392}" "" "2916delA" "" "Germline" "" "" "0" "" "" "g.92494498del" "" "pathogenic (recessive)" "" "0000640535" "1" "77" "7" "92123833" "92123833" "subst" "0" "00004" "PEX1_000218" "g.92123833A>G" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "Germline" "" "" "0" "" "" "g.92494519A>G" "" "likely pathogenic" "" "0000640538" "1" "90" "7" "92123884" "92123884" "subst" "4.46995E-5" "00004" "PEX1_000067" "g.92123884C>T" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.92494570C>T" "" "pathogenic (recessive)" "" "0000640540" "3" "90" "7" "92126051" "92126051" "del" "0" "00004" "PEX1_000223" "g.92126051del" "" "{PMID:Ebberink 2011:21031596}" "" "2760delA" "" "Germline" "" "" "0" "" "" "g.92496737del" "" "pathogenic (recessive)" "" "0000640541" "3" "90" "7" "92126080" "92126080" "del" "8.14465E-6" "00004" "PEX1_000010" "g.92126080del" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "g.92496766del" "" "pathogenic (recessive)" "" "0000640546" "1" "90" "7" "92129154" "92129154" "subst" "0" "00004" "PEX1_000229" "g.92129154T>C" "" "{PMID:Thoms 2011:21846392}" "" "Val530Argfs*34" "" "Germline" "" "" "0" "" "" "g.92499840T>C" "" "pathogenic (recessive)" "" "0000640548" "1" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00004" "PEX1_000009" "g.92130876C>T" "" "{DB:DVD}, , {PMID:Gärtner 1999:10384394}, {PMID:Waterham 2012:22871920}, {PMID:Weleber 1993:20301475}, {PMID:Bean 2013:23757202}, {PMID:Portsteffen 1997:9398848}, {PMID:Steinberg 2006:17055079}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic" "" "0000640549" "1" "90" "7" "92130930" "92130943" "dup" "0" "00004" "PEX1_000231" "g.92130930_92130943dup" "" "{PMID:Reuber 1997:9398847}" "" "ins14bp" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.92501616_92501629dup" "" "pathogenic (recessive)" "" "0000640552" "1" "90" "7" "92131233" "92131233" "subst" "0" "00004" "PEX1_000233" "g.92131233A>G" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "" "Germline" "" "" "0" "" "" "g.92501919A>G" "" "pathogenic (recessive)" "" "0000640553" "1" "90" "7" "92131237" "92131237" "subst" "1.62571E-5" "00004" "PEX1_000031" "g.92131237G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92501923G>A" "" "pathogenic (recessive)" "" "0000640554" "1" "90" "7" "92131252" "92131252" "subst" "1.62982E-5" "00004" "PEX1_000012" "g.92131252G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92501938G>A" "" "pathogenic (recessive)" "" "0000640556" "1" "99" "7" "92131390" "92131390" "subst" "0" "00004" "PEX1_000238" "g.92131390G>A" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "Germline" "" "" "0" "" "" "g.92502076G>A" "" "pathogenic" "" "0000640557" "3" "90" "7" "92132353" "92132353" "subst" "0" "00004" "PEX1_000239" "g.92132353A>G" "" "{PMID:Thoms 2011:21846392}" "" "" "" "Germline" "" "" "0" "" "" "g.92503039A>G" "" "pathogenic (recessive)" "" "0000640558" "3" "99" "7" "92147046" "92147047" "del" "3.68986E-5" "00004" "PEX1_000062" "g.92147046_92147047del" "" "{PMID:Ebberink 2011:21031596}" "" "782_783delAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000640559" "1" "77" "7" "92132405" "92132405" "subst" "0" "00004" "PEX1_000241" "g.92132405G>A" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "Germline" "" "" "0" "" "" "g.92503091G>A" "" "likely pathogenic" "" "0000640561" "1" "90" "7" "92132486" "92132486" "dup" "0" "00004" "PEX1_000002" "g.92132486dup" "" "{DB:DVD}, , {PMID:Bean 2013:23757202}, {PMID:Heimler 1991:2063923}, {PMID:Gärtner 1992:1301993}, {PMID:Steinberg 2006:17055079}" "" "" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic" "" "0000640563" "3" "90" "7" "92132496" "92132498" "del" "0" "00004" "PEX1_000243" "g.92132496_92132498del" "2/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "2083_2085delATG" "" "Germline" "" "" "0" "" "" "g.92503182_92503184del" "" "pathogenic (recessive)" "" "0000640565" "1" "90" "7" "92134084" "92134085" "del" "0" "00004" "PEX1_000049" "g.92134084_92134085del" "" "{PMID:Ebberink 2011:21031596}" "" "2034_2035delCA" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92504770_92504771del" "" "pathogenic (recessive)" "" "0000640568" "1" "90" "7" "92134141" "92134141" "subst" "0" "00004" "PEX1_000097" "g.92134141A>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92504827A>T" "" "pathogenic (recessive)" "" "0000640570" "1" "90" "7" "92134160" "92134160" "subst" "0" "00004" "PEX1_000096" "g.92134160A>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92504846A>T" "" "pathogenic (recessive)" "" "0000640571" "1" "99" "7" "92134164" "92134165" "ins" "0" "00004" "PEX1_000251" "g.92134164_92134165insTCCACACTG" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "Germline" "" "" "0" "" "" "g.92504850_92504851insTCCACACTG" "" "pathogenic" "" "0000640574" "1" "90" "7" "92135571" "92135571" "del" "0" "00004" "PEX1_000095" "g.92135571del" "" "{PMID:Ebberink 2011:21031596}" "" "1891dekG" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92506257del" "" "pathogenic (recessive)" "" "0000640575" "1" "90" "7" "92135576" "92135577" "del" "0" "00004" "PEX1_000094" "g.92135576_92135577del" "" "{PMID:Ebberink 2011:21031596}" "" "1886_1887delGT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92506262_92506263del" "" "pathogenic (recessive)" "" "0000640576" "3" "90" "7" "92118683" "92118686" "del" "0" "00004" "PEX1_000066" "g.92118683_92118686del" "2/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "3691_3694delCAGT" "" "Germline" "" "" "0" "" "" "g.92489369_92489372del" "" "pathogenic (recessive)" "" "0000640577" "1" "90" "7" "92135622" "92135622" "del" "0" "00004" "PEX1_000063" "g.92135622del" "" "{PMID:Yik 2009:19105186}" "" "1840delA" "" "Germline" "" "" "0" "" "" "g.92506308del" "" "pathogenic (recessive)" "" "0000640578" "1" "90" "7" "92136334" "92136334" "subst" "0" "00004" "PEX1_000029" "g.92136334C>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92507020C>T" "" "pathogenic (recessive)" "" "0000640581" "3" "90" "7" "92147046" "92147047" "del" "3.68986E-5" "00004" "PEX1_000062" "g.92147046_92147047del" "" "{PMID:Ebberink 2011:21031596}" "" "782_783delAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000640586" "1" "50" "7" "92140266" "92140266" "subst" "0" "00004" "PEX1_000263" "g.92140266T>C" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000640588" "3" "90" "7" "92147046" "92147047" "del" "3.68986E-5" "00004" "PEX1_000062" "g.92147046_92147047del" "" "{PMID:Ebberink 2011:21031596}" "" "782_783delAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000640589" "1" "90" "7" "92140940" "92140940" "del" "0" "00004" "PEX1_000266" "g.92140940del" "" "{PMID:Thoms 2011:21846392}" "" "1439delT" "" "Germline" "" "" "0" "" "" "g.92511626del" "" "pathogenic (recessive)" "" "0000640592" "1" "90" "7" "92141007" "92141007" "dup" "0" "00004" "PEX1_000269" "g.92141007dup" "" "{PMID:Ebberink 2011:21031596}" "" "1370insT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92511693dup" "" "pathogenic" "" "0000640596" "1" "55" "7" "92146642" "92146642" "subst" "8.12585E-6" "00004" "PEX1_000272" "g.92146642T>C" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "Germline" "" "" "0" "" "" "g.92517328T>C" "" "VUS" "" "0000640598" "1" "50" "7" "92146822" "92146822" "subst" "0" "00004" "PEX1_000325" "g.92146822A>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000640601" "1" "99" "7" "92147046" "92147047" "del" "3.68986E-5" "00004" "PEX1_000062" "g.92147046_92147047del" "" "{DB:DVD}, {PMID:Sun 2013:23247051}" "" "" "" "Germline" "" "" "0" "" "" "g.92517732_92517733del" "" "pathogenic" "" "0000640603" "1" "90" "7" "92147105" "92147105" "subst" "1.93117E-5" "00004" "PEX1_000273" "g.92147105C>T" "" "{PMID:Thoms 2011:21846392}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.92517791C>T" "" "pathogenic (recessive)" "" "0000640604" "1" "55" "7" "92147155" "92147155" "subst" "3.2144E-5" "00004" "PEX1_000271" "g.92147155A>T" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "Germline" "" "" "0" "" "" "g.92517841A>T" "" "VUS" "" "0000640605" "1" "77" "7" "92147172" "92147175" "del" "0" "00004" "PEX1_000270" "g.92147172_92147175del" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "Germline" "" "" "0" "" "" "g.92517858_92517861del" "" "likely pathogenic" "" "0000640610" "1" "99" "7" "92147354" "92147354" "subst" "0" "00004" "PEX1_000267" "g.92147354C>G" "" "{DB:DVD}, {PMID:Sun 2013:23247051}" "" "" "" "Germline" "" "" "0" "" "" "g.92518040C>G" "" "pathogenic" "" "0000640613" "1" "77" "7" "92147545" "92147545" "subst" "0" "00004" "PEX1_000268" "g.92147545G>T" "" "{DB:DVD}, {PMID:Fromer 2014:24463507}" "" "" "" "Germline" "" "" "0" "" "" "g.92518231G>T" "" "likely pathogenic" "" "0000640615" "1" "11" "7" "92148336" "92148336" "subst" "0.00223858" "00004" "PEX1_000118" "g.92148336G>C" "" "{DB:DVD}, {PMID:Bean 2013:23757202}" "" "" "" "Germline" "" "" "0" "" "" "g.92519022G>C" "" "benign" "" "0000640616" "3" "90" "7" "92148392" "92148392" "subst" "0" "00004" "PEX1_000265" "g.92148392C>G" "2/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "" "Germline" "" "" "0" "" "" "g.92519078C>G" "" "pathogenic (recessive)" "" "0000640617" "1" "90" "7" "92148393" "92148393" "subst" "0" "00004" "PEX1_000264" "g.92148393C>G" "" "{PMID:Thoms 2011:21846392}" "" "" "" "Germline" "" "" "0" "" "" "g.92519079C>G" "" "pathogenic (recessive)" "" "0000640619" "1" "90" "7" "92151419" "92151419" "del" "0" "00004" "PEX1_000060" "g.92151419del" "" "{PMID:Yik 2009:19105186}" "" "270delA" "" "Germline" "" "" "0" "" "" "g.92522105del" "" "pathogenic (recessive)" "" "0000640620" "1" "99" "7" "92151440" "92151441" "ins" "0" "00004" "PEX1_000252" "g.92151440_92151441insA" "" "{PMID:Thoms 2011:21846392}" "" "249insT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000640621" "1" "90" "7" "92147479" "92147493" "delins" "0" "00004" "PEX1_000027" "g.92147479_92147493delinsTTGC" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000640622" "1" "99" "7" "92157655" "92157657" "del" "0" "00004" "PEX1_000253" "g.92157655_92157657del" "" "{PMID:Thoms 2011:21846392}" "" "94_96del" "" "Germline" "" "" "0" "" "" "g.92528341_92528343del" "" "pathogenic (recessive)" "" "0000640625" "1" "90" "7" "92147282" "92147282" "subst" "0" "00004" "PEX1_000056" "g.92147282G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000646831" "21" "70" "7" "92132440" "92132445" "dup" "0" "01848" "PEX1_000302" "g.92132440_92132445dup" "" "" "" "2145_2146insTCTCAG" "" "Germline" "yes" "" "0" "" "" "g.92503126_92503131dup" "" "pathogenic (recessive)" "ACMG" "0000646833" "11" "70" "7" "92148392" "92148392" "subst" "0" "01848" "PEX1_000265" "g.92148392C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.92519078C>G" "" "pathogenic (recessive)" "ACMG" "0000652372" "1" "10" "7" "92131349" "92131349" "subst" "0.000724201" "03575" "PEX1_000104" "g.92131349C>G" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs142838522}" "Germline" "" "rs142838522" "0" "" "" "g.92502035C>G" "" "benign" "" "0000655908" "0" "50" "7" "92123696" "92123696" "subst" "0.000500317" "01943" "PEX1_000303" "g.92123696C>T" "" "" "" "PEX1(NM_001282678.1):c.2317G>A (p.A773T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92494382C>T" "" "VUS" "" "0000655909" "0" "30" "7" "92129172" "92129173" "dup" "0" "02330" "PEX1_000304" "g.92129172_92129173dup" "" "" "" "PEX1(NM_001282678.2):c.1960-11_1960-10dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92499858_92499859dup" "" "likely benign" "" "0000655910" "0" "90" "7" "92130876" "92130876" "subst" "0.000321005" "01943" "PEX1_000009" "g.92130876C>T" "" "" "" "PEX1(NM_000466.2):c.2528G>A (p.G843D), PEX1(NM_000466.3):c.2528G>A (p.G843D, p.(Gly843Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92501562C>T" "" "pathogenic" "" "0000655911" "0" "30" "7" "92147359" "92147359" "subst" "0.00504036" "02326" "PEX1_000114" "g.92147359G>A" "" "" "" "PEX1(NM_001282678.1):c.-152-3C>T, PEX1(NM_001282678.2):c.-152-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92518045G>A" "" "likely benign" "" "0000663576" "1" "50" "7" "92143245" "92143245" "subst" "1.22405E-5" "00006" "PEX1_000305" "g.92143245T>C" "" "{PMID:Arno 2017:28132693}" "" "" "heterozygous variant only, does not fit phenotype" "Germline" "" "" "0" "" "" "g.92513931T>C" "" "VUS" "" "0000673865" "2" "90" "7" "92134067" "92134067" "subst" "0" "03695" "PEX1_000306" "g.92134067G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000673866" "2" "90" "7" "92147046" "92147047" "del" "3.68986E-5" "03695" "PEX1_000062" "g.92147046_92147047del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000678213" "0" "30" "7" "92120598" "92120598" "subst" "0.000374127" "01943" "PEX1_000144" "g.92120598G>A" "" "" "" "PEX1(NM_001282678.1):c.2802C>T (p.T934=), PEX1(NM_001282678.2):c.2802C>T (p.T934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678214" "0" "30" "7" "92131371" "92131371" "subst" "1.22516E-5" "01943" "PEX1_000156" "g.92131371C>A" "" "" "" "PEX1(NM_000466.2):c.2249G>T (p.(Cys750Phe)), PEX1(NM_001282678.1):c.1625G>T (p.C542F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678215" "0" "30" "7" "92136386" "92136386" "subst" "0.000320898" "01943" "PEX1_000307" "g.92136386C>T" "" "" "" "PEX1(NM_001282678.1):c.1101G>A (p.L367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678216" "0" "50" "7" "92146765" "92146765" "subst" "0" "01943" "PEX1_000308" "g.92146765G>A" "" "" "" "PEX1(NM_001282678.1):c.440C>T (p.P147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000686957" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686958" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 1999:10480353}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686959" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686960" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686961" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686962" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686963" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686964" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Steinberg 2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686965" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Steinberg 2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686966" "1" "90" "7" "92123620" "92123622" "del" "0" "02015" "PEX1_000048" "g.92123620_92123622del" "" "{PMID:Steinberg 2004:15542397}" "" "3022_3024delCCT" "" "Germline" "" "" "0" "" "" "g.92494306_92494308del" "" "pathogenic (recessive)" "" "0000686967" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Steinberg 2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686968" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Steinberg 2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686969" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Steinberg 2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686970" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686971" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686972" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686973" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686974" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686975" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Preuss 2002:12032265}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686976" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Preuss 2002:12032265}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686977" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Walter 2001:11389485}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686978" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Walter 2001:11389485}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686979" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Walter 2001:11389485}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686980" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Steinberg 2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686981" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Steinberg 2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686982" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Steinberg 2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686983" "3" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Steinberg 2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686984" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686985" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "previously described as homozygous G843D" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686986" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686987" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686988" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686989" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Collins 1999:10447258}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686990" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 1999:10480353}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686991" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 1999:10480353}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686992" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 1999:10480353}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686993" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686994" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686995" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686996" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686997" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686998" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000686999" "11" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Preuss 2002:12032265}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687000" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Walter 2001:11389485}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687001" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Walter 2001:11389485}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687002" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Walter 2001:11389485}" "" 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2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687069" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Steinberg 2004:15542397}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687070" "3" "90" "7" "92126080" "92126080" "del" "8.14465E-6" "02015" "PEX1_000010" "g.92126080del" "" "{PMID:Walter 2001:11389485}" "" "2730delA" "" "Germline" "" "" "0" "" "" "g.92496766del" "" "pathogenic (recessive)" "" "0000687071" "3" "90" "7" "92126080" "92126080" "del" "8.14465E-6" "02015" "PEX1_000010" "g.92126080del" "" "{PMID:Walter 2001:11389485}" "" "2730delA" "" "Germline" "" "" "0" "" "" "g.92496766del" "" "pathogenic (recessive)" "" "0000687072" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Maxwell 2002:12402331}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687073" "1" "90" "7" "92131252" "92131252" "subst" "1.62982E-5" "02015" "PEX1_000012" "g.92131252G>A" "" "{PMID:Maxwell 2002:12402331}" "" "" "" "Germline" "" "" "0" "" "" "g.92501938G>A" "" "pathogenic (recessive)" "" "0000687074" "1" "90" "7" "92131228" "92131228" "subst" "0" "02015" "PEX1_000013" "g.92131228G>C" "" "{PMID:Maxwell 2002:12402331}" "" "" "" "Germline" "" "" "0" "" "" "g.92501914G>C" "" "pathogenic (recessive)" "" "0000687075" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Walter 2001:11389485}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687076" "1" "90" "7" "92123645" "92123645" "subst" "8.14127E-6" "02015" "PEX1_000015" "g.92123645G>A" "" "{PMID:Maxwell 2002:12402331}" "" "" "" "Germline" "" "" "0" "" "" "g.92494331G>A" "" "pathogenic (recessive)" "" "0000687077" "1" "90" "7" "92123812" "92123812" "del" "0" "02015" "PEX1_000007" "g.92123812del" "" "{PMID:Maxwell 2002:12402331}" "" "2916delA" "" "Germline" "" "" "0" "" "" "g.92494498del" "" "pathogenic (recessive)" "" "0000687078" "1" "90" "7" "92130859" "92130867" "delins" "0" "02015" "PEX1_000016" "g.92130859_92130867delinsACCATGA" "" "{PMID:Steinberg 2004:15542397}" "" "2537_2545delATGAAGTTAinsTCATGGT" "" "Germline" "" "" "0" "" "" "g.92501545_92501553delinsACCATGA" "" "pathogenic (recessive)" "" "0000687079" "1" "90" "7" "92130988" "92132354" "" "0" "02015" "PEX1_000022" "g.(92130988_92132354)?" "" "{PMID:Preuss 2002:12032265}" "" "2227_2416del" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687080" "1" "90" "7" "92123800" "92123800" "subst" "2.03198E-5" "02015" "PEX1_000018" "g.92123800C>T" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "g.92494486C>T" "" "pathogenic (recessive)" "" "0000687081" "1" "90" "7" "92132492" "92132496" "del" "4.06699E-6" "02015" "PEX1_000019" "g.92132492_92132496del" "" "{PMID:Steinberg 2004:15542397}" "" "2085_2089delGATAA" "" "Germline" "" "" "0" "" "" "g.92503178_92503182del" "" "pathogenic (recessive)" "" "0000687082" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Preuss 2002:12032265}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687083" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Preuss 2002:12032265}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687084" "3" "90" "7" "92130988" "92132354" "" "0" "02015" "PEX1_000022" "g.(92130988_92132354)?" "" "{PMID:Preuss 2002:12032265}" "" "2227_2416del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687085" "1" "90" "7" "92134157" "92134165" "dup" "0" "02015" "PEX1_000023" "g.92134157_92134165dup" "" "{PMID:Preuss 2002:12032265}" "" "1961insCAGTGTGGA" "" "Germline" "" "" "0" "" "" "g.92504843_92504851dup" "" "pathogenic (recessive)" "" "0000687086" "1" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "{PMID:Walter 2001:11389485}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687087" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "{PMID:Walter 2001:11389485}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687088" "3" "90" "7" "92138638" "92138638" "subst" "0" "02015" "PEX1_000026" "g.92138638C>A" "" "{PMID:Walter 2001:11389485}" "" "" "" "Germline" "" "" "0" "" "" "g.92509324C>A" "" 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"g.92122294dup" "" "{PMID:Collins 1999:10447258}" "" "3180_3181insT" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.92492980dup" "" "pathogenic (recessive)" "" "0000687094" "1" "90" "7" "92122266" "92122266" "subst" "0" "02015" "PEX1_000074" "g.92122266C>G" "" "{PMID:Reuber 1997:9398847}, {PMID:Collins 1999:10447258}" "" "" "" "Germline" "" "" "0" "" "" "g.92492952C>G" "" "pathogenic (recessive)" "" "0000687095" "1" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "{PMID:Walter 2001:11389485}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687096" "1" "50" "7" "92157886" "92157886" "subst" "0" "02015" "PEX1_000035" "g.92157886A>G" "" "{PMID:Maxwell 2005:16088892}" "" "-137T>C" "associated with half normal promoter activity" "Germline" "" "" "0" "" "" "g.92528572A>G" "" "VUS" "" "0000687097" "1" "50" "7" "92157802" "92157802" "subst" "0" "02015" "PEX1_000036" "g.92157802G>C" "" "{PMID:Maxwell 2005:16088892}" "" "" "associated with increased promoter activity" "Germline" "" "" "0" "" "" "g.92528488G>C" "" "VUS" "" "0000687098" "1" "90" "7" "92132493" "92132493" "subst" "0.0271386" "02015" "PEX1_000037" "g.92132493T>C" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "g.92503179T>C" "" "pathogenic (recessive)" "" "0000687099" "1" "90" "7" "92131289" "92131289" "subst" "0.921118" "02015" "PEX1_000038" "g.92131289G>T" "" "{PMID:Maxwell 2005:16088892}" "" "" "" "Germline" "" "rs10278857" "0" "" "" "g.92501975G>T" "" "pathogenic (recessive)" "" "0000687100" "3" "90" "7" "92146729" "92146729" "dup" "0" "02015" "PEX1_000039" "g.92146729dup" "" "{PMID:Maxwell 2005:16088892}" "" "1108_1109insA" "" "Germline" "" "" "0" "" "" "g.92517415dup" "" "pathogenic (recessive)" "" "0000687101" "3" "90" "7" "92131233" "92131234" "del" "0" "02015" "PEX1_000040" "g.92131233_92131234del" "" "{PMID:Maxwell 2005:16088892}" "" "2391_2392delTC" "" "Germline" "" "" 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"0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "{PMID:Tamura 2001:11439091}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687109" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "{PMID:Tamura 2001:11439091}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687110" "1" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687111" "1" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687112" "1" "90" "7" "92123799" "92123799" "subst" "8.12757E-6" "02015" "PEX1_000014" "g.92123799A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92494485A>G" "" "pathogenic (recessive)" "" "0000687113" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687114" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687115" "1" "90" "7" "92132486" "92132486" "dup" "0" "02015" "PEX1_000002" "g.92132486dup" "" "" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000687116" "1" "90" "7" "92134084" "92134085" "del" "0" "02015" "PEX1_000049" "g.92134084_92134085del" "" "" "" "2034_2035delCA" "" "Germline" "" "" "0" "" "" "g.92504770_92504771del" "" "pathogenic (recessive)" "" "0000687117" "1" "90" "7" "92140338" "92140339" "dup" "0" "02015" "PEX1_000052" "g.92140338_92140339dup" "" "" "" "1509_1510insTA" "both mutations identified in Waterham clinical lab." 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"Germline" "" "" "0" "" "" "g.92517871_92517875del" "" "pathogenic (recessive)" "" "0000687128" "1" "90" "7" "92147046" "92147047" "del" "3.68986E-5" "02015" "PEX1_000062" "g.92147046_92147047del" "" "" "" "782_783delAA" "" "Germline" "" "" "0" "" "" "g.92517732_92517733del" "" "pathogenic (recessive)" "" "0000687129" "1" "90" "7" "92147046" "92147047" "del" "3.68986E-5" "02015" "PEX1_000062" "g.92147046_92147047del" "" "" "" "782_783delAA" "" "Germline" "" "" "0" "" "" "g.92517732_92517733del" "" "pathogenic (recessive)" "" "0000687130" "1" "90" "7" "92136396" "92136397" "del" "0" "02015" "PEX1_000055" "g.92136396_92136397del" "" "" "" "1714_1715delCA" "" "Germline" "" "" "0" "" "" "g.92507082_92507083del" "" "pathogenic (recessive)" "" "0000687131" "1" "90" "7" "92136396" "92136397" "del" "0" "02015" "PEX1_000055" "g.92136396_92136397del" "" "" "" "1714_1715delCA" "" "Germline" "" "" "0" "" "" "g.92507082_92507083del" "" "pathogenic (recessive)" "" "0000687132" "1" "90" "7" "92135622" "92135622" "del" "0" "02015" "PEX1_000063" "g.92135622del" "" "" "" "1842delA" "" "Germline" "" "" "0" "" "" "g.92506308del" "" "pathogenic (recessive)" "" "0000687133" "1" "90" "7" "92135560" "92135560" "subst" "0" "02015" "PEX1_000064" "g.92135560A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92506246A>G" "" "pathogenic (recessive)" "" "0000687134" "1" "90" "7" "92120584" "92120584" "subst" "0" "02015" "PEX1_000065" "g.92120584A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92491270A>G" "" "pathogenic (recessive)" "" "0000687135" "1" "90" "7" "92118683" "92118686" "del" "0" "02015" "PEX1_000066" "g.92118683_92118686del" "" "" "" "3693_3696delGTCA" "" "Germline" "" "" "0" "" "" "g.92489369_92489372del" "" "pathogenic (recessive)" "" "0000687136" "1" "90" "7" "92123884" "92123884" "subst" "4.46995E-5" "02015" "PEX1_000067" "g.92123884C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92494570C>T" "" "pathogenic (recessive)" "" "0000687137" "1" "90" "7" "92131222" "92131222" "dup" "0" "02015" "PEX1_000068" "g.92131222dup" "" "" "" "2397_2398insA" "" "Germline" "" "" "0" "" "" "g.92501908dup" "" "pathogenic (recessive)" "" "0000687138" "1" "90" "7" "92132482" "92132482" "dup" "0" "02015" "PEX1_000070" "g.92132482dup" "" "" "" "2098_2099insT" "" "Germline" "" "" "0" "" "" "g.92503168dup" "" "pathogenic (recessive)" "" "0000687139" "1" "90" "7" "92132482" "92132482" "dup" "0" "02015" "PEX1_000070" "g.92132482dup" "" "" "" "2098_2099insT" "" "Germline" "" "" "0" "" "" "g.92503168dup" "" "pathogenic (recessive)" "" "0000687140" "1" "90" "7" "92132482" "92132482" "dup" "0" "02015" "PEX1_000070" "g.92132482dup" "" "" "" "2098_2099insT" "" "Germline" "" "" "0" "" "" "g.92503168dup" "" "pathogenic (recessive)" "" "0000687141" "1" "90" "7" "92146590" "92146590" "subst" "4.0661E-6" "02015" "PEX1_000072" "g.92146590C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92517276C>T" "" "pathogenic (recessive)" "" "0000687142" "1" "90" "7" "92132482" "92132482" "dup" "0" "02015" "PEX1_000070" "g.92132482dup" "" "" "" "2098_2099insT" "" "Germline" "" "" "0" "" "" "g.92503168dup" "" "pathogenic (recessive)" "" "0000687143" "1" "90" "7" "92132482" "92132482" "dup" "0" "02015" "PEX1_000070" "g.92132482dup" "" "" "" "2098_2099insT" "" "Germline" "" "" "0" "" "" "g.92503168dup" "" "pathogenic (recessive)" "" "0000687144" "1" "90" "7" "92135622" "92135622" "del" "0" "02015" "PEX1_000063" "g.92135622del" "" "" "" "1842delA" "" "Germline" "" "" "0" "" "" "g.92506308del" "" "pathogenic (recessive)" "" "0000687145" "3" "90" "7" "92157748" "92157748" "subst" "2.04432E-5" "02015" "PEX1_000076" "g.92157748A>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "g.92528434A>G" "" "pathogenic (recessive)" "" "0000687146" "1" "90" "7" "92129101" "92129103" "del" "0" "02015" "PEX1_000077" "g.92129101_92129103del" "" "{PMID:Ebberink 2011:21031596}" "" "2633_2635delTGT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92499787_92499789del" "" "pathogenic (recessive)" "" "0000687147" "3" "90" "7" "92157748" "92157748" "subst" "2.04432E-5" "02015" "PEX1_000076" "g.92157748A>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "g.92528434A>G" "" "pathogenic (recessive)" "" "0000687148" "3" "90" "7" "92157748" "92157748" "subst" "2.04432E-5" "02015" "PEX1_000076" "g.92157748A>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "g.92528434A>G" "" "pathogenic (recessive)" "" "0000687149" "1" "90" "7" "92157747" "92157747" "subst" "0" "02015" "PEX1_000078" "g.92157747C>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92528433C>T" "" "pathogenic (recessive)" "" "0000687150" "1" "90" "7" "92157745" "92157745" "subst" "1.51016E-5" "02015" "PEX1_000079" "g.92157745C>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92528431C>T" "" "pathogenic (recessive)" "" "0000687151" "1" "90" "7" "92157695" "92157696" "del" "0" "02015" "PEX1_000051" "g.92157695_92157696del" "" "{PMID:Ebberink 2011:21031596}" "" "56_57delTG" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92528381_92528382del" "" "pathogenic (recessive)" "" "0000687152" "1" "90" "7" "92151561" "92151561" "subst" "0" "02015" "PEX1_000081" "g.92151561T>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92522247T>A" "" "pathogenic (recessive)" "" "0000687153" "1" "90" "7" "92151415" "92151415" "subst" "0" "02015" "PEX1_000082" "g.92151415C>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92522101C>T" "" "pathogenic (recessive)" "" "0000687154" "3" "90" "7" "92148322" "92148323" "ins" "0" "02015" "PEX1_000083" "g.92148322_92148323insAG" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "g.92519008_92519009insAG" "" "pathogenic (recessive)" "" "0000687155" "1" "90" "7" "92147260" "92147260" "subst" "0" "02015" "PEX1_000084" "g.92147260G>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92517946G>T" "" "pathogenic (recessive)" "" "0000687156" "1" "90" "7" "92147260" "92147260" "subst" "0" "02015" "PEX1_000084" "g.92147260G>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92517946G>T" "" "pathogenic (recessive)" "" "0000687157" "1" "90" "7" "92147260" "92147260" "subst" "0" "02015" "PEX1_000084" "g.92147260G>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92517946G>T" "" "pathogenic (recessive)" "" "0000687158" "1" "90" "7" "92147260" "92147260" "subst" "0" "02015" "PEX1_000084" "g.92147260G>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92517946G>T" "" "pathogenic (recessive)" "" "0000687159" "1" "90" "7" "92147213" "92147213" "subst" "0" "02015" "PEX1_000085" "g.92147213G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92517899G>A" "" "pathogenic (recessive)" "" "0000687160" "1" "90" "7" "92146636" "92146636" "del" "0" "02015" "PEX1_000086" "g.92146636del" "" "{PMID:Ebberink 2011:21031596}" "" "1193delT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92517322del" "" "pathogenic (recessive)" "" "0000687161" "1" "90" "7" "92143181" "92143181" "subst" "0" "02015" "PEX1_000087" "g.92143181A>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92513867A>G" "" "pathogenic (recessive)" "" "0000687162" "1" "90" "7" "92140966" "92140966" "subst" "0" "02015" "PEX1_000088" "g.92140966G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92511652G>A" "" "pathogenic (recessive)" "" "0000687163" "1" "90" "7" "92140963" "92140963" "subst" "0" "02015" "PEX1_000089" "g.92140963G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92511649G>A" "" "pathogenic (recessive)" "" "0000687164" "1" "90" "7" "92140346" "92140347" "del" "0" "02015" "PEX1_000090" "g.92140346_92140347del" "" "{PMID:Ebberink 2011:21031596}" "" "1501_1502delCT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92511032_92511033del" "" "pathogenic (recessive)" "" "0000687165" "1" "90" "7" "92138650" "92138650" "subst" "4.0662E-6" "02015" "PEX1_000091" "g.92138650A>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92509336A>G" "" "pathogenic (recessive)" "" "0000687166" "3" "90" "7" "92136405" "92136405" "subst" "4.06187E-6" "02015" "PEX1_000092" "g.92136405T>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "g.92507091T>G" "" "pathogenic (recessive)" "" "0000687167" "1" "90" "7" "92136399" "92136402" "del" "0" "02015" "PEX1_000093" "g.92136399_92136402del" "" "{PMID:Ebberink 2011:21031596}" "" "1713_1716delTCAC" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92507085_92507088del" "" "pathogenic (recessive)" "" "0000687168" "1" "90" "7" "92135576" "92135577" "del" "0" "02015" "PEX1_000094" "g.92135576_92135577del" "" "" "" "1886_1887delGT" "" "Germline" "" "" "0" "" "" "g.92506262_92506263del" "" "pathogenic (recessive)" "" "0000687169" "1" "90" "7" "92135571" "92135571" "del" "0" "02015" "PEX1_000095" "g.92135571del" "" "" "" "1891delG" "" "Germline" "" "" "0" "" "" "g.92506257del" "" "pathogenic (recessive)" "" "0000687170" "1" "90" "7" "92134160" "92134160" "subst" "0" "02015" "PEX1_000096" "g.92134160A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92504846A>T" "" "pathogenic (recessive)" "" "0000687171" "1" "90" "7" "92134141" "92134141" "subst" "0" "02015" "PEX1_000097" "g.92134141A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92504827A>T" "" "pathogenic (recessive)" "" "0000687172" "1" "90" "7" "92132357" "92132357" "subst" "0" "02015" "PEX1_000098" "g.92132357G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92503043G>A" "" "pathogenic (recessive)" "" "0000687173" "1" "90" "7" "92132357" "92132357" "subst" "0" "02015" "PEX1_000098" "g.92132357G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92503043G>A" "" "pathogenic (recessive)" "" "0000687174" "1" "90" "7" "92131256" "92131256" "subst" "0" "02015" "PEX1_000099" "g.92131256C>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92501942C>T" "" "pathogenic (recessive)" "" "0000687175" "3" "90" "7" "92129101" "92129103" "del" "0" "02015" "PEX1_000077" "g.92129101_92129103del" "" "{PMID:Ebberink 2011:21031596}" "" "2633_2635delTGT" "" "Germline" "" "" "0" "" "" "g.92499787_92499789del" "" "pathogenic (recessive)" "" "0000687176" "1" "90" "7" "92129100" "92129100" "subst" "0" "02015" "PEX1_000100" "g.92129100A>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92499786A>G" "" "pathogenic (recessive)" "" "0000687177" "1" "90" "7" "92129100" "92129100" "subst" "0" "02015" "PEX1_000100" "g.92129100A>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92499786A>G" "" "pathogenic (recessive)" "" "0000687178" "1" "90" "7" "92129100" "92129100" "subst" "0" "02015" "PEX1_000100" "g.92129100A>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92499786A>G" "" "pathogenic (recessive)" "" "0000687179" "1" "90" "7" "92129082" "92129082" "subst" "0" "02015" "PEX1_000101" "g.92129082G>C" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92499768G>C" "" "pathogenic (recessive)" "" "0000687180" "1" "90" "7" "92123882" "92123882" "subst" "0" "02015" "PEX1_000102" "g.92123882G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92494568G>A" "" "pathogenic (recessive)" "" "0000687181" "1" "90" "7" "92121161" "92123725" "delins" "0" "02015" "PEX1_000103" "g.92121161_92123725delinsTCTATACTAT" "" "{PMID:Ebberink 2011:21031596}" "" "[2927-15_3208-342delinsATAGTATAGA;3849+779_3849+2910del]" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92491847_92494411delinsTCTATACTAT" "" "pathogenic (recessive)" "" "0000687182" "1" "90" "7" "92121158" "92123725" "delins" "0" "02015" "PEX1_000103" "g.92121158_92123725delinsTCTATACTAT" "" "{PMID:Ebberink 2011:21031596}" "" "[2927-15_3208-342delinsATAGTATAGA;3849+779_3849+2910del]" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92491847_92494411delinsTCTATACTAT" "" "pathogenic (recessive)" "" "0000687183" "1" "90" "7" "92140338" "92140339" "dup" "0" "02015" "PEX1_000052" "g.92140338_92140339dup" "" "{PMID:Ebberink 2011:21031596}" "" "1509_1510dupTA" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92511024_92511025dup" "" "pathogenic (recessive)" "" "0000687184" "2" "90" "7" "92123812" "92123812" "del" "0" "02015" "PEX1_000007" "g.92123812del" "" "{PMID:Preuss 2002:12032265}" "" "2916delA" "" "Germline" "" "" "0" "" "" "g.92494498del" "" "pathogenic (recessive)" "" "0000687185" "2" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "{PMID:Collins 1999:10447258}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687186" "2" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "{PMID:Collins 1999:10447258}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687187" "2" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "{PMID:Collins 1999:10447258}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687188" "2" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "{PMID:Collins 1999:10447258}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687189" "2" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "{PMID:Collins 1999:10447258}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000687190" "2" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02015" "PEX1_000009" "g.92130876C>T" "" "{PMID:Collins 1999:10447258}" "" "" "" "Germline" "" "" "0" "" "" 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"g.92129061C>T" "" "" "" "PEX1(NM_000466.2):c.2675G>A (p.(Gly892Glu)), PEX1(NM_001282678.1):c.2051G>A (p.G684E), PEX1(NM_001282678.2):c.2051G>A (p.G684E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721594" "0" "30" "7" "92129157" "92129157" "subst" "0" "01943" "PEX1_000313" "g.92129157G>T" "" "" "" "PEX1(NM_001282678.1):c.1960-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721595" "0" "10" "7" "92131289" "92131289" "subst" "0.921118" "02326" "PEX1_000038" "g.92131289G>T" "" "" "" "PEX1(NM_000466.3):c.2331C>A (p.G777=), PEX1(NM_001282678.1):c.1707C>A (p.G569=), PEX1(NM_001282678.2):c.1707C>A (p.G569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721596" "0" "90" "7" "92132486" "92132486" "dup" "0" "02329" "PEX1_000002" "g.92132486dup" "" "" "" "PEX1(NM_000466.3):c.2097dup (p.(Ile700TyrfsTer42)), PEX1(NM_000466.3):c.2097dupT (p.I700Yfs*42), PEX1(NM_001282678.1):c.1473dupT (p.I492Yfs*42), PE..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000730342" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00000" "PEX1_000009" "g.92130876C>T" "" "{PMID:Sanchez-Navarro 2018:29588463}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000733340" "1" "70" "7" "92147545" "92147545" "subst" "0" "00000" "PEX1_000314" "g.92147545G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.92518231G>A" "" "likely pathogenic" "" "0000733341" "1" "70" "7" "92130876" "92130876" "subst" "0.000321005" "00000" "PEX1_000009" "g.92130876C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "likely pathogenic" "" "0000733719" "2" "70" "7" "92130876" "92130876" "subst" "0.000321005" "00000" "PEX1_000009" "g.92130876C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "likely pathogenic" "" "0000733720" "2" "70" "7" "92132486" "92132486" "dup" "0" "00000" "PEX1_000002" "g.92132486dup" "" "{PMID:Stone 2017:28559085}" "" "2094_2095insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "likely pathogenic" "" "0000736277" "0" "90" "7" "92132405" "92132405" "subst" "0" "03566" "PEX1_000241" "g.92132405G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92503091G>A" "" "pathogenic" "" "0000759999" "0" "50" "7" "92120817" "92120817" "subst" "0" "00000" "PEX1_000315" "g.92120817C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.92491503C>T" "" "VUS" "" "0000786470" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00000" "PEX1_000009" "g.92130876C>T" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000787593" "3" "50" "7" "92120741" "92120741" "subst" "0.0001464" "00000" "PEX1_000147" "g.92120741C>T" "" "0" "" "" "" "Germline" "" "rs753699011" "0" "" "" "g.92491427C>T" "{CV-RCV:000597351.1}" "VUS" "" "0000788454" "0" "50" "7" "92147204" "92147204" "subst" "0" "00000" "PEX1_000316" "g.92147204T>G" "" "{PMID:Katagiri 2014:25268133}" "" "A625C" "" "Germline" "" "" "0" "" "" "g.92517890T>G" "" "VUS" "" "0000803282" "0" "30" "7" "92116761" "92116762" "del" "0" "02330" "PEX1_000317" "g.92116761_92116762del" "" "" "" "PEX1(NM_001282678.2):c.*10_*11delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803283" "0" "30" "7" "92122443" "92122443" "subst" "0.00079315" "01943" "PEX1_000318" "g.92122443C>T" "" "" "" "PEX1(NM_001282678.1):c.2407G>A (p.V803M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803284" "0" "30" "7" "92135665" "92135665" "subst" "4.06749E-6" "01943" "PEX1_000319" "g.92135665A>C" "" "" "" "PEX1(NM_001282678.1):c.1180-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000819071" "0" "70" "7" "92122397" "92122397" "subst" "0" "00000" "PEX1_000320" "g.92122397A>G" "" "{PMID:Dineiro 2020:32483926}" "" "PEX1 c.3077T>C, p.(Leu1026Pro)" "heterozygous" "Germline" "?" "" "0" "" "" "g.92493083A>G" "" "likely pathogenic" "ACMG" "0000819090" "0" "70" "7" "92140301" "92140301" "del" "0" "00000" "PEX1_000321" "g.92140301del" "" "{PMID:Dineiro 2020:32483926}" "" "PEX1 c.1548delT, p.(Leu517Cysfs*2)" "heterozygous" "Germline" "?" "" "0" "" "" "g.92510987del" "" "likely pathogenic" "ACMG" "0000828555" "0" "50" "7" "92136382" "92136382" "subst" "8.12394E-6" "00000" "PEX1_000322" "g.92136382G>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "PEX1, c.1729C>T, p.Arg577Cys, compound heterozygous" "" "Unknown" "?" "" "0" "" "" "g.92507068G>A" "" "VUS" "ACMG" "0000828556" "0" "70" "7" "92146625" "92146625" "del" "0" "00000" "PEX1_000323" "g.92146625del" "" "{PMID:Perea-Romero 2021:34448047}" "" "PEX1, c.1208delA, p.Asn403Metfs*2, compound heterozygous" "" "Unknown" "?" "" "0" "" "" "g.92517311del" "" "likely pathogenic" "ACMG" "0000833215" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Poll-The 2004:15098231}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833216" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Berendse 2016:26287655}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833217" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Poll-The 2004:15098231}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833220" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Poll-The 2004:15098231}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833221" "1" "90" "7" "92136334" "92136334" "subst" "0" "00006" "PEX1_000029" "g.92136334C>T" "" "{PMID:Berendse 2016:26287655}" "" "" "" "Germline" "" "" "0" "" "" "g.92507020C>T" "" "pathogenic (recessive)" "" "0000833222" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Poll-The 2004:15098231}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833223" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Berendse 2016:26287655}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833225" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Berendse 2016:26287655}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833227" "1" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Poll-The 2004:15098231}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833228" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Poll-The 2004:15098231}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833229" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Berendse 2016:26287655}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833230" "1" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Poll-The 2004:15098231}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833231" "2" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Poll-The 2004:15098231}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833232" "2" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Poll-The 2004:15098231}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833233" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Berendse 2016:26287655}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000833234" "2" "90" "7" "92134045" "92134045" "subst" "4.07087E-6" "00006" "PEX1_000030" "g.92134045C>A" "" "{PMID:Berendse 2016:26287655}" "" "" "" "Germline" "" "" "0" "" "" "g.92504731C>A" "" "pathogenic (recessive)" "" "0000833236" "2" "90" "7" "92129100" "92129100" "subst" "0" "00006" "PEX1_000100" "g.92129100A>G" "" "{PMID:Berendse 2016:26287655}" "" "" "" "Germline" "" "" "0" "" "" "g.92499786A>G" "" "pathogenic (recessive)" "" "0000833237" "2" "90" "7" "92132486" "92132486" "dup" "0" "00006" "PEX1_000002" "g.92132486dup" "" "{PMID:Berendse 2016:26287655}" "" "2097insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000836783" "21" "70" "7" "92140301" "92140301" "del" "0" "02494" "PEX1_000321" "g.92140301del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92510987del" "" "likely pathogenic (recessive)" "" "0000836785" "11" "70" "7" "92122397" "92122397" "subst" "0" "02494" "PEX1_000320" "g.92122397A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "" "0000841176" "3" "90" "7" "92147524" "92147524" "subst" "0" "00006" "PEX1_000193" "g.92147524G>A" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.92518210G>A" "" "pathogenic (recessive)" "" "0000845210" "1" "90" "7" "92134126" "92134126" "subst" "0" "00006" "PEX1_000046" "g.92134126A>G" "" "{PMID:Tamura 1998:9539740}, {PMID:Tamura 2001:11439091}" "" "" "" "Germline" "" "rs28939678" "0" "" "" "" "" "pathogenic (recessive)" "" "0000845211" "2" "90" "7" "0" "0" "" "0" "00006" "PEX1_000000" "g.?" "" "{PMID:Tamura 1998:9539740}, {PMID:Tamura 2001:11439091}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000845212" "3" "90" "7" "92130876" "92130876" "subst" "0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Imamura 1998:9817926}" "" "G843D" "variant temperature-sensitive" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000845213" "2" "90" "7" "92147606" "92147606" "subst" "0" "00006" "PEX1_000324" "g.92147606A>T" "" "{PMID:Tamura 2001:11439091}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000845215" "2" "90" "7" "0" "0" "" "0" "00006" "PEX1_000000" "g.?" "" "{PMID:Tamura 2001:11439091}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000845217" "2" "90" "7" "92120737" "92120737" "subst" "4.06666E-6" "00006" "PEX1_000203" "g.92120737G>C" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000845218" "2" "90" "7" "92146919" "92146920" "del" "0" "00006" "PEX1_000274" "g.92146919_92146920del" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "911_912delCT" "" "Germline" "" "" "0" "" "" "g.92517605_92517606del" "" "pathogenic (recessive)" "" "0000845228" "1" "90" "7" "92138638" "92138638" "subst" "0" "00006" "PEX1_000026" "g.92138638C>A" "2/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92509324C>A" "" "pathogenic (recessive)" "" "0000845229" "1" "90" "7" "92134045" "92134045" "subst" "4.07087E-6" "00006" "PEX1_000030" "g.92134045C>A" "2/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92504731C>A" "" "pathogenic (recessive)" "" "0000845230" "1" "90" "7" "92123800" "92123800" "subst" "2.03198E-5" "00006" "PEX1_000018" "g.92123800C>T" "3/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92494486C>T" "" "pathogenic (recessive)" "" "0000845231" "1" "90" "7" "92123799" "92123799" "subst" "8.12757E-6" "00006" "PEX1_000014" "g.92123799A>G" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92494485A>G" "" "pathogenic (recessive)" "" "0000845232" "1" "90" "7" "92122266" "92122266" "subst" "0" "00006" "PEX1_000074" "g.92122266C>G" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92492952C>G" "" "pathogenic (recessive)" "" "0000845233" "1" "90" "7" "92147479" "92147493" "delins" "0" "00006" "PEX1_000027" "g.92147479_92147493delinsTTGC" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.434_448delTTTGGGTTGATCAACinsGCAA" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92518165_92518179delinsTTGC" "" "pathogenic (recessive)" "" "0000845234" "1" "90" "7" "92147041" "92147042" "del" "0" "00006" "PEX1_000025" "g.92147041_92147042del" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.788_789delCA" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92517727_92517728del" "" "pathogenic (recessive)" "" "0000845235" "1" "90" "7" "92146925" "92146925" "del" "0" "00006" "PEX1_000011" "g.92146925del" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.904delG" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92517611del" "" "pathogenic (recessive)" "" "0000845236" "1" "90" "7" "92135596" "92135597" "ins" "0" "00006" "PEX1_000326" "g.92135596_92135597insTCCACACTC" "2/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "H623insSVC" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92506282_92506283insTCCACACTC" "" "pathogenic (recessive)" "" "0000845237" "1" "90" "7" "0" "0" "" "0" "00006" "PEX1_000000" "g.?" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.1900_2070del171bp" "combination of variants not reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000845238" "1" "90" "7" "92132492" "92132496" "del" "4.06699E-6" "00006" "PEX1_000019" "g.92132492_92132496del" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.2085_2089delGATAA" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92503178_92503182del" "" "pathogenic (recessive)" "" "0000845239" "1" "90" "7" "92132486" "92132486" "dup" "0" "00006" "PEX1_000002" "g.92132486dup" "102/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.2097_2098insT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92503172dup" "" "pathogenic (recessive)" "" "0000845240" "1" "90" "7" "92130988" "92132354" "" "0" "00006" "PEX1_000022" "g.(92130988_92132354)?" "3/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.2227_2416del190bp" "combination of variants not reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000845241" "1" "90" "7" "92130859" "92130867" "delins" "0" "00006" "PEX1_000016" "g.92130859_92130867delinsACCATGA" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.2537_2545delATGAAGTTAinsTCATGGT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92501545_92501553delinsACCATGA" "" "pathogenic (recessive)" "" "0000845242" "1" "90" "7" "92126080" "92126080" "del" "8.14465E-6" "00006" "PEX1_000010" "g.92126080del" "4/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.2730delA" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92496766del" "" "pathogenic (recessive)" "" "0000845243" "1" "90" "7" "92123909" "92123913" "del" "0" "00006" "PEX1_000020" "g.92123909_92123913del" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.2814_2818delCTTTG" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92494595_92494599del" "" "pathogenic (recessive)" "" "0000845244" "1" "90" "7" "92123812" "92123812" "del" "0" "00006" "PEX1_000007" "g.92123812del" "10/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "c.2916delA" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92494498del" "" "pathogenic (recessive)" "" "0000845245" "1" "90" "7" "92147048" "92147048" "subst" "0" "00006" "PEX1_000043" "g.92147048G>A" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92517734G>A" "" "pathogenic (recessive)" "" "0000845246" "1" "90" "7" "92135565" "92135565" "subst" "0" "00006" "PEX1_000044" "g.92135565G>A" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92506251G>A" "" "pathogenic (recessive)" "" "0000845247" "1" "90" "7" "92131252" "92131252" "subst" "1.62982E-5" "00006" "PEX1_000012" "g.92131252G>A" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92501938G>A" "" "pathogenic (recessive)" "" "0000845248" "1" "90" "7" "92131237" "92131237" "subst" "1.62571E-5" "00006" "PEX1_000031" "g.92131237G>A" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92501923G>A" "" "pathogenic (recessive)" "" "0000845249" "1" "90" "7" "92129122" "92129122" "subst" "1.22014E-5" "00006" "PEX1_000021" "g.92129122G>A" "3/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.92499808G>A" "" "pathogenic (recessive)" "" "0000845250" "1" "90" "7" "92123645" "92123645" "subst" "8.14127E-6" "00006" "PEX1_000015" "g.92123645G>A" "1/336 case chromosomes" "{PMID:Rosewich 2005:16141001}" "" "" 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"0.000321005" "00006" "PEX1_000009" "g.92130876C>T" "" "{PMID:Thoms 2011:21846392}" "" "" "" "Germline" "" "" "0" "" "" "g.92501562C>T" "" "pathogenic (recessive)" "" "0000845878" "2" "90" "7" "92129122" "92129122" "subst" "1.22014E-5" "00006" "PEX1_000021" "g.92129122G>A" "" "{PMID:Thoms 2011:21846392}" "" "" "" "Germline" "" "" "0" "" "" "g.92499808G>A" "" "pathogenic (recessive)" "" "0000851706" "0" "30" "7" "92118654" "92118654" "subst" "0.00119269" "02326" "PEX1_000140" "g.92118654G>A" "" "" "" "PEX1(NM_000466.3):c.3720C>T (p.H1240=), PEX1(NM_001282678.2):c.3096C>T (p.H1032=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851707" "0" "90" "7" "92129145" "92129145" "dup" "0" "02327" "PEX1_000328" "g.92129145dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851708" "0" "10" "7" "92129172" "92129173" "del" "0" "02325" "PEX1_000299" "g.92129172_92129173del" "" "" "" "PEX1(NM_001282678.1):c.1960-11_1960-10delTT, PEX1(NM_001282678.2):c.1960-11_1960-10delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851709" "0" "30" "7" "92131191" "92131191" "subst" "4.06676E-6" "02330" "PEX1_000329" "g.92131191T>C" "" "" "" "PEX1(NM_001282678.2):c.1792+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851710" "0" "50" "7" "92134142" "92134142" "subst" "4.87781E-5" "02330" "PEX1_000330" "g.92134142C>A" "" "" "" "PEX1(NM_001282678.2):c.1351G>T (p.V451F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851711" "0" "90" "7" "92147046" "92147047" "del" "3.68986E-5" "02327" "PEX1_000062" "g.92147046_92147047del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851712" "0" "70" "7" "92148322" "92148323" "ins" "0" "01943" "PEX1_000083" "g.92148322_92148323insAG" "" "" "" "PEX1(NM_000466.2):c.343_344insCT (p.D115Afs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000851713" "0" "50" "7" "92148343" "92148343" "subst" "4.06276E-6" "02330" "PEX1_000177" "g.92148343A>G" "" "" "" "PEX1(NM_000466.3):c.323T>C (p.V108A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851714" "0" "30" "7" "92151542" "92151542" "subst" "4.06243E-5" "01943" "PEX1_000179" "g.92151542C>T" "" "" "" "PEX1(NM_000466.2):c.147G>A (p.V49=), PEX1(NM_000466.3):c.147G>A (p.V49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851715" "0" "70" "7" "92157749" "92157749" "subst" "0" "02327" "PEX1_000331" "g.92157749T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860949" "0" "50" "7" "92119224" "92119224" "subst" "1.22305E-5" "01943" "PEX1_000327" "g.92119224C>G" "" "" "" "PEX1(NM_001282678.1):c.2816G>C (p.S939T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860950" "0" "50" "7" "92123683" "92123683" "subst" "0.000126175" "01943" "PEX1_000150" "g.92123683C>T" "" "" "" "PEX1(NM_001282678.1):c.2330G>A (p.R777H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888019" "0" "70" "7" "92123671" "92123671" "subst" "6.51031E-5" "02329" "PEX1_000041" "g.92123671A>G" "" "" "" "PEX1(NM_000466.3):c.2966T>C (p.I989T), PEX1(NM_001282678.1):c.2342T>C (p.I781T), PEX1(NM_001282678.2):c.2342T>C (p.I781T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888020" "0" "50" "7" "92123935" "92123935" "subst" "0.000520855" "02327" "PEX1_000332" "g.92123935G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888021" "0" "90" "7" "92130876" "92130876" "subst" "0.000321005" "02330" "PEX1_000009" "g.92130876C>T" "" "" "" "PEX1(NM_000466.2):c.2528G>A (p.G843D), PEX1(NM_000466.3):c.2528G>A (p.G843D, p.(Gly843Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888022" "0" "90" "7" "92147260" "92147260" "subst" "0" "02327" "PEX1_000084" "g.92147260G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000905096" "0" "90" "7" "92132486" "92132486" "dup" "0" "03779" "PEX1_000002" "g.92132486dup" "" "" "" "" "" "Unknown" "" "rs61750415" "0" "" "" "" "" "pathogenic" "" "0000905097" "0" "90" "7" "92130876" "92130876" "subst" "0.000321005" "03779" "PEX1_000009" "g.92130876C>T" "" "" "" "" "" "Unknown" "" "rs61750420" "0" "" "" "" "" "pathogenic" "" "0000912818" "0" "10" "7" "92147017" "92147017" "subst" "0.00205917" "02330" "PEX1_000169" "g.92147017T>C" "" "" "" "PEX1(NM_000466.2):c.812A>G (p.(Asn271Ser)), PEX1(NM_001282678.1):c.188A>G (p.N63S), PEX1(NM_001282678.2):c.188A>G (p.N63S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931613" "0" "50" "7" "92151568" "92151568" "subst" "0.000390558" "03779" "PEX1_000333" "g.92151568A>G" "" "" "" "" "" "Unknown" "" "rs377337949" "0" "" "" "" "" "VUS" "" "0000948961" "0" "50" "7" "92147459" "92147459" "subst" "1.21863E-5" "02330" "PEX1_000334" "g.92147459T>G" "" "" "" "PEX1(NM_000466.3):c.468A>C (p.Q156H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964709" "0" "30" "7" "92151530" "92151530" "subst" "3.24979E-5" "02330" "PEX1_000335" "g.92151530G>A" "" "" "" "PEX1(NM_000466.3):c.159C>T (p.H53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972016" "3" "50" "7" "92132422" "92132422" "subst" "0" "04656" "PEX1_000336" "g.92132422G>A" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.92503108G>A" "" "VUS" "" "0000977883" "0" "30" "7" "92122309" "92122309" "subst" "3.6608E-5" "02330" "PEX1_000337" "g.92122309T>C" "" "" "" "PEX1(NM_001282678.2):c.2541A>G (p.Q847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977884" "0" "90" "7" "92129122" "92129122" "subst" "1.22014E-5" "02330" "PEX1_000021" "g.92129122G>A" "" "" "" "PEX1(NM_001282678.2):c.1990C>T (p.R664*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977885" "0" "90" "7" "92130876" "92130876" "subst" "0.000321005" "01804" "PEX1_000009" "g.92130876C>T" "" "" "" "PEX1(NM_000466.2):c.2528G>A (p.G843D), PEX1(NM_000466.3):c.2528G>A (p.G843D, p.(Gly843Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977886" "0" "50" "7" "92131350" "92131350" "subst" "0" "01804" "PEX1_000338" "g.92131350A>G" "" "" "" "PEX1(NM_000466.3):c.2270T>C (p.(Leu757Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977887" "0" "50" "7" "92138650" "92138650" "subst" "4.0662E-6" "02330" "PEX1_000091" "g.92138650A>G" "" "" "" "PEX1(NM_001282678.2):c.1039T>C (p.S347P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977888" "0" "50" "7" "92146597" "92146597" "subst" "0" "01804" "PEX1_000339" "g.92146597T>C" "" "" "" "PEX1(NM_000466.3):c.1232A>G (p.(Lys411Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977889" "0" "50" "7" "92146822" "92146822" "subst" "0" "02330" "PEX1_000325" "g.92146822A>G" "" "" "" "PEX1(NM_001282678.2):c.383T>C (p.V128A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977890" "0" "50" "7" "92146877" "92146877" "subst" "2.84882E-5" "01804" "PEX1_000340" "g.92146877C>T" "" "" "" "PEX1(NM_000466.3):c.952G>A (p.(Asp318Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027545" "1" "70" "7" "92122269" "92122269" "subst" "0" "00006" "PEX1_000148" "g.92122269G>A" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.92492955G>A" "" "likely pathogenic (recessive)" "" "0001027568" "2" "70" "7" "92132486" "92132486" "dup" "0" "00006" "PEX1_000002" "g.92132486dup" "" "{PMID:Boissel 2017:29261186}" "" "2097_2098insT" "" "Germline" "" "" "0" "" "" "g.92503172dup" "" "likely pathogenic (recessive)" "" "0001036570" "0" "30" "7" "92123599" "92123599" "subst" "0" "01804" "PEX1_000341" "g.92123599A>G" "" "" "" "PEX1(NM_000466.3):c.3030+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PEX1 ## Count = 932 "{{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}}" "0000097087" "00015982" "90" "3750" "0" "3750" "0" "c.3750G>A" "r.(?)" "p.(Trp1250*)" "23" "0000097090" "00015982" "70" "3750" "0" "3750" "0" "c.3750G>A" "r.(?)" "p.(Trp1250*)" "23" "0000097091" "00015982" "90" "2114" "0" "2114" "0" "c.2114T>G" "r.(?)" "p.(Leu705Trp)" "13" "0000097092" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700Tyrfs*42)" "13" "0000097093" "00015982" "90" "2114" "0" "2114" "0" "c.2114T>G" "r.(?)" "p.(Leu705Trp)" "13" "0000097094" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700Tyrfs*42)" "13" "0000097102" "00015982" "90" "1742" "0" "1742" "0" "c.1742G>C" "r.(?)" "p.(Arg581Pro)" "10" "0000097103" "00015982" "90" "1239" "1" "1239" "1" "c.1239+1G>T" "r.spl" "p.?" "5i" "0000097104" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700Tyrfs*42)" "13" "0000097105" "00015982" "90" "1742" "0" "1742" "0" "c.1742G>C" "r.(?)" "p.(Arg581Pro)" "10" "0000115996" "00015982" "70" "3140" "0" "3140" "0" "c.3140T>C" "r.(?)" "p.(Leu1047Pro)" "20" "0000115997" "00015982" "70" "3140" "0" "3140" "0" "c.3140T>C" "r.(?)" "p.(Leu1047Pro)" "20" "0000115998" "00015982" "70" "3140" "0" "3140" "0" "c.3140T>C" "r.(?)" "p.(Leu1047Pro)" "20" "0000115999" "00015982" "70" "3140" "0" "3140" "0" "c.3140T>C" "r.(?)" "p.(Leu1047Pro)" "20" "0000116002" "00015982" "70" "3140" "0" "3140" "0" "c.3140T>C" "r.(?)" "p.(Leu1047Pro)" "20" "0000130217" "00015982" "70" "2875" "0" "2875" "0" "c.2875C>T" "r.(?)" "p.(Arg959*)" "" "0000164213" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.Ile700Tyrfs*42" "13" "0000164214" "00015982" "90" "2114" "0" "2114" "0" "c.2114T>G" "r.(?)" "p.Leu705Trp" "13" "0000164215" "00015982" "90" "3750" "0" "3750" "0" "c.3750G>A" "r.(?)" "p.Trp1250*" "23" "0000164216" "00015982" "90" "1742" "0" "1742" "0" "c.1742G>A" "r.(?)" "p.Arg581Gln" "10" "0000246550" "00015982" "10" "2584" "-10" "2584" "-10" "c.2584-10del" "r.(=)" "p.(=)" "" "0000246559" "00015982" "10" "1671" "-7" "1671" "-7" "c.1671-7T>C" "r.(=)" "p.(=)" "" "0000246592" "00015982" "10" "3102" "0" "3102" "0" "c.3102T>C" "r.(?)" "p.(His1034=)" "" "0000246599" "00015982" "10" "3810" "0" "3810" "0" "c.3810T>A" "r.(?)" "p.(Ser1270Arg)" "" "0000246628" "00015982" "10" "3438" "17" "3438" "17" "c.3438+17T>C" "r.(=)" "p.(=)" "" "0000246630" "00015982" "10" "2584" "-20" "2584" "-20" "c.2584-20T>A" "r.(=)" "p.(=)" "" "0000246643" "00015982" "30" "1587" "5" "1587" "5" "c.1587+5T>C" "r.spl?" "p.?" "" "0000246653" "00015982" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Ile989Thr)" "" "0000247929" "00015982" "10" "2584" "-10" "2584" "-10" "c.2584-10del" "r.(=)" "p.(=)" "" "0000253190" "00015982" "10" "2584" "-10" "2584" "-10" "c.2584-10del" "r.(=)" "p.(=)" "" "0000254170" "00015982" "30" "1671" "-7" "1671" "-7" "c.1671-7T>C" "r.(=)" "p.(=)" "" "0000254992" "00015982" "30" "1506" "0" "1506" "0" "c.1506T>C" "r.(?)" "p.(Ser502=)" "" "0000255034" "00015982" "30" "3216" "0" "3216" "0" "c.3216T>C" "r.(?)" "p.(Ser1072=)" "" "0000293665" "00015982" "10" "473" "-18" "473" "-18" "c.473-18G>A" "r.(=)" "p.(=)" "" "0000293666" "00015982" "10" "358" "-11" "358" "-11" "c.358-11G>C" "r.(=)" "p.(=)" "" "0000293667" "00015982" "30" "129" "21" "129" "21" "c.129+21C>T" "r.(=)" "p.(=)" "" "0000293668" "00015982" "30" "1804" "-12" "1804" "-12" "c.1804-12A>T" "r.(=)" "p.(=)" "" "0000293669" "00015982" "10" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Leu213Phe)" "" "0000293670" "00015982" "30" "1579" "0" "1579" "0" "c.1579A>G" "r.(?)" "p.(Thr527Ala)" "" "0000293671" "00015982" "50" "2416" "3" "2416" "3" "c.2416+3A>T" "r.spl?" "p.?" "" "0000293672" "00015982" "30" "2442" "0" "2442" "0" "c.2442C>T" "r.(?)" "p.(Phe814=)" "" "0000293674" "00015982" "10" "2584" "-11" "2584" "-10" "c.2584-11_2584-10del" "r.(=)" "p.(=)" "" "0000293675" "00015982" "10" "2584" "-10" "2584" "-10" "c.2584-10dup" "r.(=)" "p.(=)" "" "0000293678" "00015982" "10" "2088" "0" "2088" "0" "c.2088A>G" "r.(?)" "p.(Ile696Met)" "" "0000293679" "00015982" "10" "2718" "3" "2718" "3" "c.2718+3A>G" "r.spl?" "p.?" "" "0000293681" "00015982" "10" "2901" "0" "2901" "0" "c.2901G>A" "r.(?)" "p.(Gln967=)" "" "0000293682" "00015982" "10" "2331" "0" "2331" "0" "c.2331C>A" "r.(?)" "p.(Gly777=)" "" "0000293683" "00015982" "10" "3439" "-14" "3439" "-13" "c.3439-14_3439-13del" "r.(=)" "p.(=)" "" "0000293684" "00015982" "10" "330" "0" "330" "0" "c.330C>G" "r.(?)" "p.(Pro110=)" "" "0000293685" "00015982" "10" "358" "-15" "358" "-15" "c.358-15G>A" "r.(=)" "p.(=)" "" "0000293686" "00015982" "30" "400" "0" "400" "0" "c.400A>G" "r.(?)" "p.(Ile134Val)" "" "0000293687" "00015982" "10" "1142" "0" "1142" "0" "c.1142C>A" "r.(?)" "p.(Ala381Asp)" "" "0000293688" "00015982" "10" "1521" "0" "1521" "0" "c.1521G>C" "r.(?)" "p.(Trp507Cys)" "" "0000296890" "00015982" "30" "1579" "0" "1579" "0" "c.1579A>G" "r.(?)" "p.(Thr527Ala)" "" "0000296891" "00015982" "50" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Gly892Glu)" "" "0000296892" "00015982" "10" "2088" "0" "2088" "0" "c.2088A>G" "r.(?)" "p.(Ile696Met)" "" "0000296894" "00015982" "50" "2743" "0" "2743" "0" "c.2743A>T" "r.(?)" "p.(Ile915Phe)" "" "0000296895" "00015982" "10" "2331" "0" "2331" "0" "c.2331C>A" "r.(?)" "p.(Gly777=)" "" "0000296896" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000296897" "00015982" "10" "358" "-15" "358" "-15" "c.358-15G>A" "r.(=)" "p.(=)" "" "0000300720" "00015982" "30" "2088" "0" "2088" "0" "c.2088A>G" "r.(?)" "p.(Ile696Met)" "" "0000300721" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000300722" "00015982" "10" "3439" "-14" "3439" "-13" "c.3439-14_3439-13del" "r.(=)" "p.(=)" "" "0000305457" "00015982" "10" "473" "-3" "473" "-3" "c.473-3C>T" "r.spl?" "p.?" "" "0000305458" "00015982" "30" "1579" "0" "1579" "0" "c.1579A>G" "r.(?)" "p.(Thr527Ala)" "" "0000305459" "00015982" "30" "2271" "0" "2271" "0" "c.2271G>C" "r.(?)" "p.(Leu757Phe)" "" "0000305460" "00015982" "30" "2442" "0" "2442" "0" "c.2442C>T" "r.(?)" "p.(Phe814=)" "" "0000305461" "00015982" "30" "2471" "0" "2471" "0" "c.2471C>T" "r.(?)" "p.(Ala824Val)" "" "0000305462" "00015982" "30" "2584" "-9" "2584" "-9" "c.2584-9G>T" "r.(=)" "p.(=)" "" "0000305464" "00015982" "10" "2584" "-11" "2584" "-10" "c.2584-11_2584-10del" "r.(=)" "p.(=)" "" "0000305465" "00015982" "30" "2584" "-10" "2584" "-10" "c.2584-10dup" "r.(=)" "p.(=)" "" "0000305466" "00015982" "30" "2584" "-5" "2584" "-5" "c.2584-5del" "r.spl?" "p.?" "" "0000305467" "00015982" "50" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Gly892Glu)" "" "0000305469" "00015982" "30" "2901" "0" "2901" "0" "c.2901G>A" "r.(?)" "p.(Gln967=)" "" "0000305470" "00015982" "50" "3070" "0" "3070" "0" "c.3070C>G" "r.(?)" "p.(Leu1024Val)" "" "0000305471" "00015982" "50" "3503" "0" "3503" "0" "c.3503A>G" "r.(?)" "p.(Asp1168Gly)" "" "0000305472" "00015982" "30" "3774" "0" "3774" "0" "c.3774A>T" "r.(?)" "p.(Glu1258Asp)" "" "0000305473" "00015982" "30" "330" "0" "330" "0" "c.330C>G" "r.(?)" "p.(Pro110=)" "" "0000305474" "00015982" "30" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Thr151=)" "" "0000305475" "00015982" "30" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Gln156=)" "" "0000305476" "00015982" "30" "1521" "0" "1521" "0" "c.1521G>C" "r.(?)" "p.(Trp507Cys)" "" "0000331679" "00015982" "50" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Gly892Glu)" "" "0000331681" "00015982" "50" "2458" "0" "2458" "0" "c.2458G>A" "r.(?)" "p.(Gly820Arg)" "" "0000331682" "00015982" "50" "2249" "0" "2249" "0" "c.2249G>T" "r.(?)" "p.(Cys750Phe)" "" "0000331683" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "" "0000331685" "00015982" "50" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Pro442Ser)" "" "0000331687" "00015982" "30" "920" "0" "920" "0" "c.920A>C" "r.(?)" "p.(His307Pro)" "" "0000331689" "00015982" "50" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(Asn229Ser)" "" "0000331690" "00015982" "30" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Leu213Phe)" "" "0000331691" "00015982" "50" "627" "0" "627" "0" "c.627G>A" "r.(?)" "p.(Met209Ile)" "" "0000341663" "00015982" "70" "3037" "0" "3037" "0" "c.3037C>T" "r.(?)" "p.(Arg1013Cys)" "" "0000346297" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000532999" "00015982" "30" "3756" "0" "3756" "0" "c.3756T>A" "r.(?)" "p.(Asn1252Lys)" "" "0000533000" "00015982" "10" "3720" "0" "3720" "0" "c.3720C>T" "r.(?)" "p.(His1240=)" "" "0000533001" "00015982" "50" "3639" "0" "3639" "0" "c.3639G>C" "r.(?)" "p.(Glu1213Asp)" "" "0000533002" "00015982" "50" "3637" "-3" "3637" "-3" "c.3637-3A>G" "r.spl?" "p.?" "" "0000533004" "00015982" "30" "3426" "0" "3426" "0" "c.3426C>T" "r.(?)" "p.(Thr1142=)" "" "0000533005" "00015982" "50" "3419" "0" "3424" "0" "c.3419_3424del" "r.(?)" "p.(Asn1140_Gly1141del)" "" "0000533006" "00015982" "50" "3419" "0" "3424" "0" "c.3419_3424del" "r.(?)" "p.(Asn1140_Gly1141del)" "" "0000533008" "00015982" "30" "3216" "0" "3216" "0" "c.3216T>C" "r.(?)" "p.(Ser1072=)" "" "0000533009" "00015982" "70" "3205" "0" "3205" "0" "c.3205C>T" "r.(?)" "p.(Gln1069Ter)" "" "0000533010" "00015982" "30" "3030" "19" "3030" "19" "c.3030+19G>C" "r.(=)" "p.(=)" "" "0000533011" "00015982" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Ile989Thr)" "" "0000533012" "00015982" "10" "2952" "0" "2952" "0" "c.2952T>C" "r.(?)" "p.(Ser984=)" "" "0000533013" "00015982" "10" "2926" "8" "2926" "8" "c.2926+8T>C" "r.(=)" "p.(=)" "" "0000533014" "00015982" "30" "2926" "8" "2926" "8" "c.2926+8T>C" "r.(=)" "p.(=)" "" "0000533015" "00015982" "50" "2789" "0" "2789" "0" "c.2789A>G" "r.(?)" "p.(Gln930Arg)" "" "0000533016" "00015982" "50" "2785" "0" "2785" "0" "c.2785G>A" "r.(?)" "p.(Ala929Thr)" "" "0000533017" "00015982" "10" "2718" "3" "2718" "3" "c.2718+3A>G" "r.spl?" "p.?" "" "0000533019" "00015982" "10" "2331" "0" "2331" "0" "c.2331C>A" "r.(?)" "p.(Gly777=)" "" "0000533020" "00015982" "50" "2271" "0" "2271" "0" "c.2271G>C" "r.(?)" "p.(Leu757Phe)" "" "0000533021" "00015982" "30" "2271" "0" "2271" "0" "c.2271G>C" "r.(?)" "p.(Leu757Phe)" "" "0000533022" "00015982" "50" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Val734Ile)" "" "0000533023" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "" "0000533024" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "" "0000533025" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "" "0000533027" "00015982" "50" "2059" "0" "2059" "0" "c.2059C>T" "r.(?)" "p.(Arg687Trp)" "" "0000533028" "00015982" "70" "1970" "0" "1970" "0" "c.1970C>T" "r.(?)" "p.(Ser657Phe)" "" "0000533029" "00015982" "70" "1670" "5" "1670" "5" "c.1670+5G>T" "r.spl?" "p.?" "" "0000533031" "00015982" "30" "1360" "-4" "1360" "-4" "c.1360-4G>T" "r.spl?" "p.?" "" "0000533032" "00015982" "50" "1360" "-4" "1360" "-4" "c.1360-4G>T" "r.spl?" "p.?" "" "0000533033" "00015982" "30" "1360" "-4" "1360" "-4" "c.1360-4G>T" "r.spl?" "p.?" "" "0000533034" "00015982" "30" "1281" "0" "1281" "0" "c.1281T>G" "r.(?)" "p.(His427Gln)" "" "0000533035" "00015982" "50" "1277" "0" "1277" "0" "c.1277T>C" "r.(?)" "p.(Met426Thr)" "" "0000533036" "00015982" "10" "1142" "0" "1142" "0" "c.1142C>A" "r.(?)" "p.(Ala381Asp)" "" "0000533037" "00015982" "30" "939" "0" "939" "0" "c.939T>C" "r.(?)" "p.(His313=)" "" "0000533039" "00015982" "30" "897" "0" "897" "0" "c.897C>T" "r.(?)" "p.(Asn299=)" "" "0000533040" "00015982" "10" "812" "0" "812" "0" "c.812A>G" "r.(?)" "p.(Asn271Ser)" "" "0000533041" "00015982" "30" "812" "0" "812" "0" "c.812A>G" "r.(?)" "p.(Asn271Ser)" "" "0000533042" "00015982" "30" "645" "0" "645" "0" "c.645C>G" "r.(?)" "p.(Thr215=)" "" "0000533043" "00015982" "30" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Leu213Phe)" "" "0000533044" "00015982" "50" "627" "0" "627" "0" "c.627G>A" "r.(?)" "p.(Met209Ile)" "" "0000533045" "00015982" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "" "0000533047" "00015982" "50" "457" "0" "457" "0" "c.457A>C" "r.(?)" "p.(Ile153Leu)" "" "0000533048" "00015982" "50" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Tyr152Cys)" "" "0000533049" "00015982" "10" "358" "-15" "358" "-15" "c.358-15G>A" "r.(=)" "p.(=)" "" "0000533051" "00015982" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Glu75Lys)" "" "0000533052" "00015982" "30" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Val49=)" "" "0000602984" "00015982" "70" "3409" "0" "3409" "0" "c.3409G>T" "r.(?)" "p.(Glu1137*)" "" "0000611301" "00015982" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Ile989Thr)" "" "0000611302" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "" "0000611303" "00015982" "50" "1919" "0" "1919" "0" "c.1919T>C" "r.(?)" "p.(Ile640Thr)" "" "0000611304" "00015982" "90" "1713" "0" "1716" "0" "c.1713_1716del" "r.(?)" "p.(His572AlafsTer11)" "" "0000611305" "00015982" "30" "1670" "7" "1670" "7" "c.1670+7A>C" "r.(=)" "p.(=)" "" "0000611306" "00015982" "30" "1579" "0" "1579" "0" "c.1579A>G" "r.(?)" "p.(Thr527Ala)" "" "0000611307" "00015982" "30" "1360" "-4" "1360" "-4" "c.1360-4G>T" "r.spl?" "p.?" "" "0000611308" "00015982" "50" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ser257Phe)" "" "0000611309" "00015982" "10" "473" "-3" "473" "-3" "c.473-3C>T" "r.spl?" "p.?" "" "0000611310" "00015982" "50" "412" "0" "412" "0" "c.412T>C" "r.(?)" "p.(Phe138Leu)" "" "0000611311" "00015982" "10" "-53" "0" "-53" "0" "c.-53C>G" "r.(?)" "p.(=)" "" "0000621948" "00015982" "50" "3379" "0" "3379" "0" "c.3379C>T" "r.(?)" "p.(Arg1127Trp)" "" "0000621950" "00015982" "50" "1374" "0" "1374" "0" "c.1374T>G" "r.(?)" "p.(Ser458Arg)" "" "0000624903" "00015982" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Ter)" "" "0000640511" "00015982" "90" "3732" "0" "3736" "0" "c.3732_3736dup" "r.(?)" "p.(Ser1246Thrfs*37)" "23" "0000640512" "00015982" "55" "3714" "0" "3714" "0" "c.3714T>C" "r.(=)" "p.(=)" "23" "0000640513" "00015982" "90" "3710" "0" "3710" "0" "c.3710C>A" "r.(?)" "p.(Ala1237Glu)" "23" "0000640514" "00015982" "90" "3693" "0" "3696" "0" "c.3693_3696del" "r.(?)" "p.(Gln1231Hisfs*3)" "23" "0000640515" "00015982" "99" "3505" "0" "3517" "0" "c.3505_3517del" "r.(?)" "p.(Gln1169Serfs*5)" "22" "0000640517" "00015982" "90" "3180" "0" "3180" "0" "c.3180dup" "r.(?)" "p.(Gly1061Trpfs*16)" "" "0000640522" "00015982" "90" "3124" "0" "3124" "0" "c.3124T>G" "r.(?)" "p.(Phe1042Val)" "20" "0000640523" "00015982" "90" "3038" "0" "3038" "0" "c.3038G>A" "r.(?)" "p.(Arg1013His)" "20" "0000640524" "00015982" "90" "3037" "0" "3037" "0" "c.3037C>G" "r.(?)" "p.(Arg1013Gly)" "20" "0000640525" "00015982" "99" "3030" "0" "3030" "0" "c.3030G>T" "r.(?)" "p.(Gln1010His)" "19" "0000640526" "00015982" "90" "3022" "0" "3024" "0" "c.3022_3024del" "r.(?)" "p.(Pro1008del)" "19" "0000640529" "00015982" "90" "274" "0" "274" "0" "c.274G>C" "r.(?)" "p.(Val92Leu)" "" "0000640532" "00015982" "99" "2926" "2" "2926" "2" "c.2926+2dup" "r.spl?" "p.?" "18i" "0000640533" "00015982" "90" "2926" "1" "2926" "1" "c.2926+1G>A" "r.spl?" "p.?" "18i" "0000640534" "00015982" "90" "2916" "0" "2916" "0" "c.2916del" "r.(?)" "p.(Gly973Alafs*16)" "18" "0000640535" "00015982" "77" "2894" "0" "2894" "0" "c.2894T>C" "r.(?)" "p.(Leu965Pro)" "18" "0000640538" "00015982" "90" "2843" "0" "2843" "0" "c.2843G>A" "r.(?)" "p.(Arg948Gln)" "18" "0000640540" "00015982" "90" "2760" "0" "2760" "0" "c.2760del" "r.(?)" "p.(Ala921Leufs*40)" "17" "0000640541" "00015982" "90" "2730" "0" "2730" "0" "c.2730del" "r.(?)" "p.(Leu910Phefs*51)" "17" "0000640546" "00015982" "90" "2584" "-2" "2584" "-2" "c.2584-2A>G" "r.spl" "p.?" "15i" "0000640548" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000640549" "00015982" "90" "2464" "0" "2477" "0" "c.2464_2477dup" "r.2464_2477dup" "p.Leu826Phefs*70" "15" "0000640552" "00015982" "90" "2387" "0" "2387" "0" "c.2387T>C" "r.(?)" "p.(Leu796Pro)" "14" "0000640553" "00015982" "90" "2383" "0" "2383" "0" "c.2383C>T" "r.(?)" "p.(Arg795*)" "14" "0000640554" "00015982" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790*)" "14" "0000640556" "00015982" "99" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Gln744*)" "14" "0000640557" "00015982" "90" "2226" "2" "2226" "2" "c.2226+2T>C" "r.2072_2416del" "p.Ala691_Lys806delinsGlu" "13i" "0000640558" "00015982" "99" "782" "0" "783" "0" "c.782_783del" "r.(?)" "p.(Gln261Argfs*8)" "5" "0000640559" "00015982" "77" "2176" "0" "2176" "0" "c.2176C>T" "r.(?)" "p.(Gln726*)" "13" "0000640561" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700Tyrfs*42)" "13" "0000640563" "00015982" "90" "2085" "0" "2087" "0" "c.2085_2087del" "r.(?)" "p.(Met695del)" "13" "0000640565" "00015982" "90" "2034" "0" "2035" "0" "c.2034_2035del" "r.(?)" "p.(His678Glnfs*3)" "12" "0000640568" "00015982" "90" "1976" "0" "1976" "0" "c.1976T>A" "r.(?)" "p.(Val659Asp)" "12" "0000640570" "00015982" "90" "1957" "0" "1957" "0" "c.1957T>A" "r.(?)" "p.(Trp653Arg)" "12" "0000640571" "00015982" "99" "1952" "0" "1953" "0" "c.1952_1953insCAGTGTGGA" "r.(?)" "p.(Ala651_Val652insSerValGlu)" "12" "0000640574" "00015982" "90" "1891" "0" "1891" "0" "c.1891del" "r.(?)" "p.(Ala631Leufs*14)" "11" "0000640575" "00015982" "90" "1886" "0" "1887" "0" "c.1886_1887del" "r.(?)" "p.(Cys629*)" "11" "0000640576" "00015982" "90" "3693" "0" "3696" "0" "c.3693_3696del" "r.(?)" "p.(Gln1231Hisfs*3)" "23" "0000640577" "00015982" "90" "1842" "0" "1842" "0" "c.1842del" "r.(?)" "p.(Glu615Lysfs*30)" "11" "0000640578" "00015982" "90" "1777" "0" "1777" "0" "c.1777G>A" "r.(?)" "p.(Gly593Arg)" "10" "0000640581" "00015982" "90" "782" "0" "783" "0" "c.782_783del" "r.(?)" "p.(Gln261Argfs*8)" "5" "0000640586" "00015982" "50" "1579" "0" "1579" "0" "c.1579A>G" "r.(?)" "p.(Thr527Ala)" "8" "0000640588" "00015982" "90" "782" "0" "783" "0" "c.782_783del" "r.(?)" "p.(Gln261Argfs*8)" "5" "0000640589" "00015982" "90" "1439" "0" "1439" "0" "c.1439del" "r.(?)" "p.(Leu480Trpfs*2)" "7" "0000640592" "00015982" "90" "1370" "0" "1370" "0" "c.1370dup" "r.(?)" "p.(Ser458Lysfs*2)" "7" "0000640596" "00015982" "55" "1187" "0" "1187" "0" "c.1187A>G" "r.(?)" "p.(Asn396Ser)" "5" "0000640598" "00015982" "50" "1007" "0" "1007" "0" "c.1007T>C" "r.(?)" "p.(Val336Ala)" "5" "0000640601" "00015982" "99" "782" "0" "783" "0" "c.782_783del" "r.(?)" "p.(Gln261Argfs*8)" "5" "0000640603" "00015982" "90" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Ile)" "5" "0000640604" "00015982" "55" "674" "0" "674" "0" "c.674T>A" "r.(?)" "p.(Ile225Asn)" "5" "0000640605" "00015982" "77" "657" "0" "660" "0" "c.657_660del" "r.(?)" "p.(Ser220Ilefs*22)" "5" "0000640610" "00015982" "99" "475" "0" "475" "0" "c.475G>C" "r.(?)" "p.(Ala159Pro)" "5" "0000640613" "00015982" "77" "382" "0" "382" "0" "c.382C>A" "r.(?)" "p.(Gln128Lys)" "4" "0000640615" "00015982" "11" "330" "0" "330" "0" "c.330C>G" "r.(=)" "p.(=)" "3" "0000640616" "00015982" "90" "274" "0" "274" "0" "c.274G>C" "r.(?)" "p.(Val92Leu)" "3" "0000640617" "00015982" "90" "274" "-1" "274" "-1" "c.274-1G>C" "r.274_357del" "p.Val92_Leu119del" "2i" "0000640619" "00015982" "90" "270" "0" "270" "0" "c.270del" "r.(?)" "p.(Gln91Argfs*41)" "2" "0000640620" "00015982" "99" "248" "0" "249" "0" "c.248_249insT" "r.(?)" "p.(Lys83Asnfs*25)" "2" "0000640621" "00015982" "90" "434" "0" "448" "0" "c.434_448delinsGCAA" "r.(?)" "p.(Val145Glyfs*24)" "4" "0000640622" "00015982" "99" "95" "0" "97" "0" "c.95_97del" "r.(?)" "p.(Pro32del)" "1" "0000640625" "00015982" "90" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183*)" "5" "0000646831" "00015982" "70" "2140" "0" "2145" "0" "c.2140_2145dup" "r.(?)" "p.(Ser714_Gln715dup)" "" "0000646833" "00015982" "70" "274" "0" "274" "0" "c.274G>C" "r.(?)" "p.(Val92Leu)" "" "0000652372" "00015982" "10" "2271" "0" "2271" "0" "c.2271G>C" "r.(?)" "p.(Leu757Phe)" "" "0000655908" "00015982" "50" "2941" "0" "2941" "0" "c.2941G>A" "r.(?)" "p.(Ala981Thr)" "" "0000655909" "00015982" "30" "2584" "-11" "2584" "-10" "c.2584-11_2584-10dup" "r.(=)" "p.(=)" "" "0000655910" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000655911" "00015982" "30" "473" "-3" "473" "-3" "c.473-3C>T" "r.spl?" "p.?" "" "0000663576" "00015982" "50" "1276" "0" "1276" "0" "c.1276A>G" "r.(?)" "p.(Met426Val)" "" "0000673865" "00015982" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Gln684*)" "" "0000673866" "00015982" "90" "782" "0" "783" "0" "c.782_783del" "r.(?)" "p.(Gln261Argfs*8)" "" "0000678213" "00015982" "30" "3426" "0" "3426" "0" "c.3426C>T" "r.(?)" 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"p.(Gly843Asp)" "" "0000833234" "00015982" "90" "2071" "1" "2071" "1" "c.2071+1G>T" "r.spl" "p.?" "" "0000833236" "00015982" "90" "2636" "0" "2636" "0" "c.2636T>C" "r.(?)" "p.(Leu879Ser)" "" "0000833237" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "" "0000836783" "00015982" "70" "1548" "0" "1548" "0" "c.1548del" "r.(?)" "p.(Leu517Cysfs*2)" "" "0000836785" "00015982" "70" "3077" "0" "3077" "0" "c.3077T>C" "r.(?)" "p.(Leu1026Pro)" "" "0000841176" "00015982" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Ter)" "" "0000845210" "00015982" "90" "1991" "0" "1991" "0" "c.1991T>C" "r.1991u>c" "p.Leu664Pro" "" "0000845211" "00015982" "90" "1900" "-1" "2071" "1" "c.(1899+1_1900-1)_(2071+1_2072-1)?" "r.1900_2071del" "p.Gly634_His690del" "" "0000845212" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.2528g>a" "p.Gly843Asp" "" "0000845213" "00015982" "90" "358" "-37" "358" "-37" "c.358-37T>A" "r.357_358ins358-35_358-1" "p.Ala159fs" "3i" "0000845215" "00015982" "90" "1240" "-1" "1359" "1" "c.(1239+1_1240-1)_(1359+1_1360-1)?" "r.1240_1359del" "p.Ile414_Leu453del" "" "0000845217" "00015982" "90" "3287" "0" "3287" "0" "c.3287C>G" "r.(?)" "p.(Ser1096*)" "" "0000845218" "00015982" "90" "911" "0" "912" "0" "c.911_912del" "r.(?)" "p.(Ser304Cysfs*4)" "" "0000845228" "00015982" "90" "1670" "5" "1670" "5" "c.1670+5G>T" "r.spl?" "p.?" "9i" "0000845229" "00015982" "90" "2071" "1" "2071" "1" "c.2071+1G>T" "r.spl" "p.?" "12i" "0000845230" "00015982" "90" "2926" "1" "2926" "1" "c.2926+1G>A" "r.spl" "p.?" "18i" "0000845231" "00015982" "90" "2926" "2" "2926" "2" "c.2926+2T>C" "r.spl" "p.?" "18i" "0000845232" "00015982" "90" "3207" "1" "3207" "1" "c.3207+1G>C" "r.spl" "p.?" "20i" "0000845233" "00015982" "90" "434" "0" "448" "0" "c.434_448delinsGCAA" "r.(?)" "p.(Val145GlyfsTer24)" "4" "0000845234" "00015982" "90" "788" "0" "789" "0" "c.788_789del" "r.(?)" "p.(Thr263IlefsTer6)" "5" "0000845235" "00015982" "90" "904" "0" "904" "0" "c.904del" "r.(?)" "p.(Ala302GlnfsTer23)" "5" "0000845236" "00015982" "90" "1865" "0" "1866" "0" "c.1865_1866insGAGTGTGGA" "r.(?)" "p.(Ala622_His623insSerValAsp)" "11" "0000845237" "00015982" "90" "1900" "-1" "2071" "1" "c.(1899+1_1900-1)_(2071+1_2072-1)?" "r.1900_2071del" "p.Gly634_His690del" "" "0000845238" "00015982" "90" "2085" "0" "2089" "0" "c.2085_2089del" "r.(?)" "p.(Met695IlefsTer45)" "13" "0000845239" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "13" "0000845240" "00015982" "90" "2226" "1" "2417" "-1" "c.(2226+1_2417-1)?" "r.2227_2416del" "p.Glu743fs" "14" "0000845241" "00015982" "90" "2537" "0" "2545" "0" "c.2537_2545delinsTCATGGT" "r.(?)" "p.(His846LeufsTer53)" "15" "0000845242" "00015982" "90" "2730" "0" "2730" "0" "c.2730del" "r.(?)" "p.(Leu910PhefsTer51)" "17" "0000845243" "00015982" "90" "2814" "0" "2818" "0" "c.2814_2818del" "r.(?)" "p.(Phe938LeufsTer2)" "18" "0000845244" "00015982" "90" "2916" "0" "2916" "0" "c.2916del" "r.(?)" "p.(Gly973AlafsTer16)" "18" "0000845245" "00015982" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Gln261Ter)" "5" "0000845246" "00015982" "90" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Arg633Ter)" "11" "0000845247" "00015982" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Ter)" "14" "0000845248" "00015982" "90" "2383" "0" "2383" "0" "c.2383C>T" "r.(?)" "p.(Arg795Ter)" "14" "0000845249" "00015982" "90" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Arg872Ter)" "16" "0000845250" "00015982" "90" "2992" "0" "2992" "0" "c.2992C>T" "r.(?)" "p.(Arg998Ter)" "19" "0000845251" "00015982" "90" "3378" "0" "3378" "0" "c.3378C>G" "r.(?)" "p.(Tyr1126Ter)" "21" "0000845252" "00015982" "90" "1777" "0" "1777" "0" "c.1777G>A" "r.(?)" "p.(Gly593Arg)" "10" "0000845253" "00015982" "90" "1991" "0" "1991" "0" "c.1991T>C" "r.(?)" "p.(Leu664Pro)" "12" "0000845254" "00015982" "90" "2008" "0" "2008" "0" "c.2008C>A" "r.(?)" "p.(Leu670Met)" "12" "0000845255" "00015982" "90" "2392" "0" "2392" "0" "c.2392C>G" "r.(?)" "p.(Arg798Gly)" "14" "0000845256" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845257" "00015982" "90" "2846" "0" "2846" "0" "c.2846G>A" "r.(?)" "p.(Arg949Gln)" "18" "0000845258" "00015982" "90" "3850" "0" "3850" "0" "c.3850T>C" "r.(?)" "p.(Ter1284GlnextTer28)" "24" "0000845259" "00015982" "90" "1952" "0" "1960" "0" "c.1952_1960dup" "r.(?)" "p.(Trp653_Met654insThrValTrp)" "12" "0000845260" "00015982" "90" "1952" "0" "1960" "0" "c.1952_1960dup" "r.(?)" "p.(Trp653_Met654insThrValTrp)" "12" "0000845593" "00015982" "90" "788" "0" "789" "0" "c.788_789del" "r.(?)" "p.(Thr263Ilefs*6)" "" "0000845594" "00015982" "90" "911" "0" "912" "0" "c.911_912del" "r.(?)" "p.(Ser304Cysfs*4)" "" "0000845595" "00015982" "90" "1108" "0" "1108" "0" "c.1108dup" "r.(?)" "p.(Ile370Asnfs*2)" "" "0000845596" "00015982" "90" "1239" "1" "1239" "1" "c.1239+1G>T" "r.spl" "p.?" "" "0000845597" "00015982" "90" "1670" "5" "1670" "5" "c.1670+5G>T" "r.spl" "p.?" "9i" "0000845599" "00015982" "90" "1716" "0" "1717" "0" "c.1716_1717del" "r.(?)" "p.(His572Glnfs*19)" "" "0000845601" "00015982" "90" "1716" "0" "1717" "0" "c.1716_1717del" "r.(?)" "p.(His572Glnfs*19)" "" "0000845602" "00015982" "90" "1842" "0" "1842" "0" "c.1842del" "r.(?)" "p.(Glu615Lysfs*30)" "" "0000845603" "00015982" "90" "1952" "0" "1960" "0" "c.1952_1960dup" "r.(?)" "p.(Trp653_Met654insThrValTrp)" "" "0000845604" "00015982" "90" "2008" "0" "2008" "0" "c.2008C>A" "r.(?)" "p.(Leu670Met)" "" "0000845605" "00015982" "90" "2071" "1" "2071" "1" "c.2071+1G>T" "r.spl" "p.?" "" "0000845606" "00015982" "90" "2071" "1" "2071" "1" "c.2071+1G>T" "r.spl" "p.?" "" "0000845607" "00015982" "90" "2071" "1" "2071" "1" "c.2071+1G>T" "r.spl" "p.?" "" "0000845608" "00015982" "90" "2071" "1" "2071" "1" "c.2071+1G>T" "r.spl" "p.?" "" "0000845609" "00015982" "90" "2071" "1" "2071" "1" "c.2071+1G>T" "r.spl" "p.?" "" "0000845610" "00015982" "90" "2387" "0" "2387" "0" "c.2387T>C" "r.(?)" "p.(Leu796Pro)" "" "0000845611" "00015982" "90" "2392" "0" "2392" "0" "c.2392C>G" "r.(?)" "p.(Arg798Gly)" "" "0000845628" "00015982" "90" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Arg872*)" "" "0000845629" "00015982" "90" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Arg872*)" "" "0000845630" "00015982" "90" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Arg872*)" "" "0000845631" "00015982" "90" "2730" "0" "2730" "0" "c.2730del" "r.(?)" "p.(Leu910Phefs*51)" "" "0000845632" "00015982" "90" "2730" "0" "2730" "0" "c.2730del" "r.(?)" "p.(Leu910Phefs*51)" "" "0000845633" "00015982" "90" "2730" "0" "2730" "0" "c.2730del" "r.(?)" "p.(Leu910Phefs*51)" "" "0000845634" "00015982" "90" "2730" "0" "2730" "0" "c.2730del" "r.(?)" "p.(Leu910Phefs*51)" "" "0000845635" "00015982" "90" "2846" "0" "2846" "0" "c.2846G>A" "r.(?)" "p.(Arg949Gln)" "" "0000845636" "00015982" "90" "2846" "0" "2846" "0" "c.2846G>A" "r.(?)" "p.(Arg949Gln)" "" "0000845637" "00015982" "90" "2916" "0" "2916" "0" "c.2916del" "r.(?)" "p.(Gly973Alafs*16)" "" "0000845638" "00015982" "90" "2916" "0" "2916" "0" "c.2916del" "r.(?)" "p.(Gly973Alafs*16)" "" "0000845639" "00015982" "90" "2916" "0" "2916" "0" "c.2916del" "r.(?)" "p.(Gly973Alafs*16)" "" "0000845640" "00015982" "90" "2916" "0" "2916" "0" "c.2916del" "r.(?)" "p.(Gly973Alafs*16)" "" "0000845641" "00015982" "90" "2916" "0" "2916" "0" "c.2916del" "r.(?)" "p.(Gly973Alafs*16)" "" "0000845642" "00015982" "90" "2926" "1" "2926" "1" "c.2926+1G>A" "r.spl" "p.?" "" "0000845643" "00015982" "90" "3850" "0" "3850" "0" "c.3850T>C" "r.(?)" "p.(*1284Glnext*28)" "" "0000845644" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845645" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845646" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845647" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845648" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845649" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845650" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845651" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845652" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845653" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845654" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845655" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845656" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845657" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845658" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845659" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845660" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845661" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845662" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845663" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845664" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845665" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845666" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845667" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845668" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845669" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845670" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845671" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845672" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "15" "0000845673" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" 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"p.(Gly843Asp)" "" "0000845864" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000845865" "00015982" "90" "911" "0" "912" "0" "c.911_912del" "r.(?)" "p.(Ser304CysfsTer4)" "" "0000845866" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000845867" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000845868" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "" "0000845869" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "" "0000845870" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "" "0000845871" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000845872" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000845873" "00015982" "90" "3287" "0" "3287" "0" "c.3287C>G" "r.(?)" "p.(Ser1096Ter)" "" "0000845874" "00015982" "90" "2387" "0" "2387" "0" "c.2387T>C" "r.(?)" "p.(Leu796Pro)" "" "0000845875" "00015982" "90" "1952" "0" "1960" "0" "c.1952_1960dup" "r.(?)" "p.(Trp653_Met654insThrValTrp)" "" "0000845876" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000845877" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000845878" "00015982" "90" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Arg872Ter)" "" "0000851706" "00015982" "30" "3720" "0" "3720" "0" "c.3720C>T" "r.(?)" "p.(His1240=)" "" "0000851707" "00015982" "90" "2592" "0" "2592" "0" "c.2592dup" "r.(?)" "p.(Leu865Ilefs*35)" "" "0000851708" "00015982" "10" "2584" "-11" "2584" "-10" "c.2584-11_2584-10del" "r.(=)" "p.(=)" "" "0000851709" "00015982" "30" "2416" "13" "2416" "13" "c.2416+13A>G" "r.(=)" "p.(=)" "" "0000851710" "00015982" "50" "1975" "0" "1975" "0" "c.1975G>T" "r.(?)" "p.(Val659Phe)" "" "0000851711" "00015982" "90" "782" "0" "783" "0" "c.782_783del" "r.(?)" "p.(Gln261Argfs*8)" "" "0000851712" "00015982" "70" "343" "0" "344" "0" "c.343_344insCT" "r.(?)" "p.(Asp115Alafs*18)" "" "0000851713" "00015982" "50" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Val108Ala)" "" "0000851714" "00015982" "30" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Val49=)" "" "0000851715" "00015982" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000860949" "00015982" "50" "3440" "0" "3440" "0" "c.3440G>C" "r.(?)" "p.(Ser1147Thr)" "" "0000860950" "00015982" "50" "2954" "0" "2954" "0" "c.2954G>A" "r.(?)" "p.(Arg985His)" "" "0000888019" "00015982" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Ile989Thr)" "" "0000888020" "00015982" "50" "2792" "0" "2792" "0" "c.2792C>A" "r.(?)" "p.(Ala931Asp)" "" "0000888021" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000888022" "00015982" "90" "569" "0" "569" "0" "c.569C>A" "r.(?)" "p.(Ser190*)" "" "0000905096" "00015982" "90" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" "p.(Ile700TyrfsTer42)" "" "0000905097" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000912818" "00015982" "10" "812" "0" "812" "0" "c.812A>G" "r.(?)" "p.(Asn271Ser)" "" "0000931613" "00015982" "50" "130" "-9" "130" "-9" "c.130-9T>C" "r.(?)" "p.(?)" "" "0000948961" "00015982" "50" "468" "0" "468" "0" "c.468A>C" "r.(?)" "p.(Gln156His)" "" "0000964709" "00015982" "30" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(=)" "" "0000972016" "00015982" "50" "2159" "0" "2159" "0" "c.2159C>T" "r.(?)" "p.(Pro720Leu)" "13" "0000977883" "00015982" "30" "3165" "0" "3165" "0" "c.3165A>G" "r.(?)" "p.(=)" "" "0000977884" "00015982" "90" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Arg872*)" "" "0000977885" "00015982" "90" "2528" "0" "2528" "0" "c.2528G>A" "r.(?)" "p.(Gly843Asp)" "" "0000977886" "00015982" "50" "2270" "0" "2270" "0" "c.2270T>C" "r.(?)" "p.(Leu757Ser)" "" "0000977887" "00015982" "50" "1663" "0" "1663" "0" "c.1663T>C" "r.(?)" "p.(Ser555Pro)" "" "0000977888" "00015982" "50" "1232" "0" "1232" "0" "c.1232A>G" "r.(?)" "p.(Lys411Arg)" "" "0000977889" "00015982" "50" "1007" "0" "1007" "0" "c.1007T>C" "r.(?)" "p.(Val336Ala)" "" "0000977890" "00015982" "50" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Asp318Asn)" "" "0001027545" "00015982" "70" "3205" "0" "3205" "0" "c.3205C>T" "r.(?)" "p.(Gln1069Ter)" "" "0001027568" "00015982" "70" "2097" "0" "2097" "0" "c.2097dup" "r.(?)" 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