### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX7) # 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}}" "PEX7" "peroxisomal biogenesis factor 7" "6" "q21-q22.2" "unknown" "NG_008462.1" "UD_132118881600" "" "https://www.LOVD.nl/PEX7" "" "1" "8860" "5191" "601757" "1" "1" "1" "1" " This database is one of the dbPEX gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PEX7_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00001" "2006-05-05 00:00:00" "00006" "2020-09-10 16:27:46" "00000" "2021-09-17 14:40:49" ## 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}}" "00015988" "PEX7" "peroxisomal biogenesis factor 7" "001" "NM_000288.3" "" "NP_000279.1" "" "" "" "-102" "1380" "972" "137143702" "137235072" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "2016-10-22 17:54:40" "01709" "RCDP-1" "chondrodysplasia punctata, rhizomelic, type 1 (RCDP-1)" "" "215100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "02048" "Refsum" "Refsum disease (deficiency, phytanic acid oxidase)" "" "266500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" "03771" "PBD9B" "peroxisome biogenesis disorder, type 9B (PBD9B)" "AR" "614879" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-09 16:01:07" "04213" "COD" "dystrophy, cone (COD)" "" "" "" "" "" "00006" "2015-02-27 19:22:18" "" "" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2020-09-04 17:15:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PEX7" "00139" "PEX7" "01709" "PEX7" "02048" "PEX7" "03771" ## Individuals ## Do not remove or alter this header ## ## Count = 170 "{{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}}" "00132076" "" "" "" "1" "" "01396" "" "" "M" "?" "? (unknown)" "" "0" "" "" "" "1" "00293990" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00310209" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310210" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310211" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310212" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310213" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310214" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310215" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310216" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310217" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310218" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310219" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310220" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310221" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310222" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310223" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310224" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310225" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310226" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD070" "00310227" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD073" "00310228" "" "" "" "1" "" "02015" "{PMID:Braverman 1997:9090381}, {PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD075" "00310229" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD076" "00310230" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD077" "00310231" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD079" "00310232" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD081" "00310233" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD082" "00310234" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD123" "00310235" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD124" "00310236" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD125" "00310237" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD126" "00310238" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD128" "00310239" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD129" "00310240" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD130" "00310241" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD134" "00310242" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD140" "00310243" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD141" "00310244" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD142" "00310245" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD146" "00310246" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD147" "00310247" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD148" "00310248" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD410" "00310249" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD411" "00310250" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD412" "00310251" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD414" "00310252" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD415" "00310253" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD416" "00310254" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD417" "00310255" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD418" "00310256" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD420" "00310257" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD421" "00310258" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD422" "00310259" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD424" "00310260" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD425" "00310261" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD427" "00310262" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310263" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD435" "00310264" "" "" "" "1" "" "02015" "{PMID:van den Brink 2003:12522768}" "" "" "" "" "" "0" "" "" "" "Pat1" "00310265" "" "" "" "1" "" "02015" "{PMID:van den Brink 2003:12522768}" "" "" "" "" "" "0" "" "" "" "Pat2" "00310266" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310267" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310268" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD137" "00310269" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD426" "00310270" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD432" "00310271" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310272" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310273" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310274" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310275" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310276" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310277" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310278" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310279" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310280" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310281" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310282" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310283" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310284" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310285" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310286" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310287" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310288" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310289" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310290" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310291" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310292" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310293" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310294" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310295" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310296" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310297" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310298" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310299" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310300" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310301" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310302" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310303" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310304" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310305" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310306" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00310307" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310308" "" "" "" "1" "" "02015" "{PMID:Braverman 2000:10673331}" "" "" "" "" "" "0" "" "" "" "" "00310309" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310310" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310311" "" "" "" "1" "" "03773" "" "" "" "" "" "" "0" "" "" "" "" "00310312" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310313" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310314" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310315" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310316" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310317" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310318" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310319" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310320" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310321" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD071" "00310322" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD072" "00310323" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD074" "00310324" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD078" "00310325" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD080" "00310326" "" "" "" "1" "" "02015" "{PMID:Braverman 1997:9090381}, {PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD122" "00310327" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD127" "00310328" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD132" "00310329" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD135" "00310330" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD136" "00310331" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD138" "00310332" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD139" "00310333" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD143" "00310334" "" "" "" "1" "" "02015" "{PMID:Braverman 1997:9090381}, {PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD145" "00310335" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD413" "00310336" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD419" "00310337" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD423" "00310338" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD429" "00310339" "" "" "" "1" "" "02015" "{PMID:Braverman 2002:12325024}" "" "" "" "" "" "0" "" "" "" "PBD434" "00310340" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310341" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310342" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310343" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310344" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310345" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "Switzerland" "" "0" "" "" "" "" "00310346" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "France" "" "0" "" "" "" "" "00310347" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "Spain" "" "0" "" "" "" "" "00310348" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310349" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310350" "" "" "" "1" "" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310351" "" "" "" "1" "" "02015" "{PMID:Motley 2002:11781871}" "" "" "" "" "" "0" "" "" "" "" "00310352" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Turkey" "" "0" "" "" "" "" "00310353" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00310354" "" "" "" "3" "" "00006" "{PMID:Motley 2002:11781871}" "3 patients" "" "" "Israel" "" "0" "" "" "" "" "00310355" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Italy" "" "0" "" "" "" "" "00310356" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Spain" "" "0" "" "" "" "" "00310357" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00310358" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Turkey" "" "0" "" "" "" "" "00310359" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Sweden" "" "0" "" "" "" "" "00310360" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Italy" "" "0" "" "" "" "" "00310361" "" "" "" "1" "" "00006" "{PMID:Shimozawa 1999:10083738}, {PMID:Motley 2002:11781871}" "" "F" "" "Japan" "" "0" "" "" "" "Pat1" "00310362" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Sweden" "" "0" "" "" "" "" "00310363" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Turkey" "" "0" "" "" "" "" "00310364" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Turkey" "" "0" "" "" "" "" "00310365" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Turkey" "" "0" "" "" "" "" "00310366" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Germany" "" "0" "" "" "" "" "00310367" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Germany" "" "0" "" "" "" "" "00310368" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Turkey" "" "0" "" "" "" "" "00310369" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00310370" "" "" "" "1" "" "00006" "{PMID:Motley 2002:11781871}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00310371" "" "" "" "1" "" "00006" "{PMID:Shimozawa 1999:10083738}, {PMID:Motley 2002:11781871}" "" "F" "" "Chile" "" "0" "" "" "" "Pat2" "00310372" "" "" "" "1" "" "00006" "{PMID:Purdue 1997:9090383}" "" "" "" "United States" "" "0" "" "" "" "PatRW" "00324526" "" "" "" "1" "" "03960" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Japan" ">20y" "0" "" "" "" "patient" "00326802" "" "" "" "1" "" "03849" "{PMID:Kominami 2017:29220607}, {PMID:Kominami 2017:10.1080/13816810.2017.1408846}" "" "M" "no" "Japan" ">20y" "0" "" "" "Japan" "patient" "00358947" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71472" "00380816" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 170 "{{individualid}}" "{{diseaseid}}" "00132076" "01709" "00293990" "00198" "00310209" "05079" "00310210" "05079" "00310211" "05079" "00310212" "05079" "00310213" "05079" "00310214" "05079" "00310215" "05079" "00310216" "05079" "00310217" "05079" "00310218" "05079" "00310219" "05079" "00310220" "05079" "00310221" "05079" "00310222" "05079" "00310223" "05079" "00310224" "05079" "00310225" "05079" "00310226" "05079" "00310227" "05079" "00310228" "05079" "00310229" "05079" "00310230" "05079" "00310231" "05079" "00310232" "05079" "00310233" "05079" "00310234" "05079" "00310235" "05079" "00310236" "05079" "00310237" "05079" "00310238" "05079" "00310239" "05079" "00310240" "05079" "00310241" "05079" "00310242" "05079" "00310243" "05079" "00310244" "05079" "00310245" "05079" "00310246" "05079" "00310247" "05079" "00310248" "05079" "00310249" "05079" "00310250" "05079" "00310251" "05079" "00310252" "05079" "00310253" "05079" "00310254" "05079" "00310255" "05079" "00310256" "05079" "00310257" "05079" "00310258" "05079" "00310259" "05079" "00310260" "05079" "00310261" "05079" "00310262" "05079" "00310263" "05079" "00310264" "05079" "00310265" "05079" "00310266" "05079" "00310267" "05079" "00310268" "05079" "00310269" "05079" "00310270" "05079" "00310271" "05079" "00310272" "05079" "00310273" "05079" "00310274" "05079" "00310275" "05079" "00310276" "05079" "00310277" "05079" "00310278" "05079" "00310279" "05079" "00310280" "05079" "00310281" "05079" "00310282" "05079" "00310283" "05079" "00310284" "05079" "00310285" "05079" "00310286" "05079" "00310287" "05079" "00310288" "05079" "00310289" "05079" "00310290" "05079" "00310291" "05079" "00310292" "05079" "00310293" "05079" "00310294" "05079" "00310295" "05079" "00310296" "05079" "00310297" "05079" "00310298" "05079" "00310299" "05079" "00310300" "05079" "00310301" "05079" "00310302" "05079" "00310303" "05079" "00310304" "05079" "00310305" "05079" "00310306" "05079" "00310307" "00000" "00310308" "00000" "00310309" "05079" "00310310" "05079" "00310311" "05079" "00310312" "05079" "00310313" "05079" "00310314" "05079" "00310315" "05079" "00310316" "05079" "00310317" "05079" "00310318" "05079" "00310319" "05079" "00310320" "05079" "00310321" "05079" "00310322" "05079" "00310323" "05079" "00310324" "05079" "00310325" "05079" "00310326" "05079" "00310327" "05079" "00310328" "05079" "00310329" "05079" "00310330" "05079" "00310331" "05079" "00310332" "05079" "00310333" "05079" "00310334" "05079" "00310335" "05079" "00310336" "05079" "00310337" "05079" "00310338" "05079" "00310339" "05079" "00310340" "05079" "00310341" "05079" "00310342" "05079" "00310343" "05079" "00310344" "05079" "00310345" "05079" "00310346" "05079" "00310347" "05079" "00310348" "05079" "00310349" "05079" "00310350" "05079" "00310351" "05079" "00310352" "05079" "00310353" "05079" "00310354" "05079" "00310355" "05079" "00310356" "05079" "00310357" "05079" "00310358" "05079" "00310359" "05079" "00310360" "05079" "00310361" "05079" "00310362" "05079" "00310363" "05079" "00310364" "05079" "00310365" "05079" "00310366" "05079" "00310367" "05079" "00310368" "05079" "00310369" "05079" "00310370" "05079" "00310371" "05079" "00310372" "05079" "00324526" "04213" "00326802" "04213" "00358947" "04214" "00380816" "01709" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01709, 02048, 03771, 04213, 04214, 05079 ## Count = 167 "{{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}}" "0000104260" "01709" "00132076" "01396" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235513" "05079" "00310209" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235514" "05079" "00310210" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235515" "05079" "00310211" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235516" "05079" "00310212" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235517" "05079" "00310213" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235518" "05079" "00310214" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235519" "05079" "00310215" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235520" "05079" "00310216" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235521" "05079" "00310217" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235522" "05079" "00310218" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235523" "05079" "00310219" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235524" "05079" "00310220" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235525" "05079" "00310221" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235526" "05079" "00310222" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235527" "05079" "00310223" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235528" "05079" "00310224" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger spectrum disorder" "" "0000235529" "05079" "00310225" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235530" "05079" "00310226" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235531" "05079" "00310227" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235532" "05079" "00310228" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital cataracts" "" "0000235533" "05079" "00310229" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235534" "05079" "00310230" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235535" "05079" "00310231" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235536" "05079" "00310232" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235537" "05079" "00310233" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235538" "05079" "00310234" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235539" "05079" "00310235" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235540" "05079" "00310236" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235541" "05079" "00310237" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235542" "05079" "00310238" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235543" "05079" "00310239" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235544" "05079" "00310240" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235545" "05079" "00310241" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235546" "05079" "00310242" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235547" "05079" "00310243" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235548" "05079" "00310244" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235549" "05079" "00310245" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235550" "05079" "00310246" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult Refsum disease" "" "0000235551" "05079" "00310247" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235552" "05079" "00310248" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235553" "05079" "00310249" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235554" "05079" "00310250" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235555" "05079" "00310251" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235556" "05079" "00310252" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235557" "05079" "00310253" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235558" "05079" "00310254" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235559" "05079" "00310255" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235560" "05079" "00310256" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235561" "05079" "00310257" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235562" "05079" "00310258" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235563" "05079" "00310259" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult Refsum disease variant" "" "0000235564" "05079" "00310260" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mild rhizomelic chondrodysplasia punctata" "" "0000235565" "05079" "00310261" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235566" "05079" "00310262" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235567" "05079" "00310263" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235568" "05079" "00310264" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult Refsum disease" "" "0000235569" "05079" "00310265" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult Refsum disease" "" "0000235570" "05079" "00310266" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235571" "05079" "00310267" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235572" "05079" "00310268" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235573" "05079" "00310269" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235574" "05079" "00310270" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235575" "05079" "00310271" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235576" "05079" "00310272" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235577" "05079" "00310273" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235578" "05079" "00310274" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235579" "05079" "00310275" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235580" "05079" "00310276" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235581" "05079" "00310277" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235582" "05079" "00310278" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235583" "05079" "00310279" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235584" "05079" "00310280" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235585" "05079" "00310281" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235586" "05079" "00310282" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235587" "05079" "00310283" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235588" "05079" "00310284" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235589" "05079" "00310285" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235590" "05079" "00310286" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235591" "05079" "00310287" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235592" "05079" "00310288" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235593" "05079" "00310289" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235594" "05079" "00310290" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235595" "05079" "00310291" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235596" "05079" "00310292" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235597" "05079" "00310293" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235598" "05079" "00310294" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235599" "05079" "00310295" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235600" "05079" "00310296" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235601" "05079" "00310297" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235602" "05079" "00310298" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235603" "05079" "00310299" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235604" "05079" "00310300" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235605" "05079" "00310301" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235606" "05079" "00310302" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235607" "05079" "00310303" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235608" "05079" "00310304" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235609" "05079" "00310305" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235610" "05079" "00310306" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mild rhizomelic chondrodysplasia punctata" "" "0000235611" "05079" "00310309" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235612" "05079" "00310310" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger spectrum disorder" "" "0000235613" "05079" "00310311" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger spectrum disorder" "" "0000235614" "05079" "00310312" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235615" "05079" "00310313" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235616" "05079" "00310314" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235617" "05079" "00310315" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235618" "05079" "00310316" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235619" "05079" "00310317" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235620" "05079" "00310318" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235621" "05079" "00310319" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235622" "05079" "00310320" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235623" "05079" "00310321" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235624" "05079" "00310322" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235625" "05079" "00310323" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235626" "05079" "00310324" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235627" "05079" "00310325" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235628" "05079" "00310326" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235629" "05079" "00310327" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235630" "05079" "00310328" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235631" "05079" "00310329" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235632" "05079" "00310330" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235633" "05079" "00310331" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235634" "05079" "00310332" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235635" "05079" "00310333" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235636" "05079" "00310334" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235637" "05079" "00310335" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235638" "05079" "00310336" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235639" "05079" "00310337" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235640" "05079" "00310338" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235641" "05079" "00310339" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235642" "05079" "00310340" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235643" "05079" "00310341" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235644" "05079" "00310342" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235645" "05079" "00310343" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235646" "05079" "00310344" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235647" "05079" "00310345" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mild rhizomelic chondrodysplasia punctata" "" "0000235648" "05079" "00310346" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "mild rhizomelic chondrodysplasia punctata" "" "0000235649" "05079" "00310347" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235650" "05079" "00310348" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235651" "05079" "00310349" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235652" "05079" "00310350" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235653" "05079" "00310351" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235654" "05079" "00310352" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235655" "05079" "00310353" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235656" "05079" "00310354" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235657" "05079" "00310355" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235658" "05079" "00310356" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235659" "05079" "00310357" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235660" "05079" "00310358" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235661" "05079" "00310359" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235662" "05079" "00310360" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235663" "05079" "00310361" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235664" "05079" "00310362" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235665" "05079" "00310363" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235666" "05079" "00310364" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235667" "05079" "00310365" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235668" "05079" "00310366" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235669" "05079" "00310367" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235670" "05079" "00310368" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235671" "05079" "00310369" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235672" "05079" "00310370" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235673" "05079" "00310371" "00006" "Familial, autosomal recessive" "07y" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000235674" "05079" "00310372" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "rhizomelic chondrodysplasia punctata" "" "0000243071" "04213" "00324526" "03960" "Familial, autosomal recessive" "" "see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)" "06y" "20y" "photophobia, reduiced visual acuity" "" "" "" "" "" "" "cone dystrophy" "" "0000245278" "04213" "00326802" "03849" "Familial, autosomal recessive" "20y" "photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), reduced visual acuity (HP:0007663), Dyschromatopsia (HP:0007641), Absent rod-and cone-mediated responses on ERG (HP:0007688)" "" "" "photophobia (HP:0000613)" "" "" "" "" "" "" "cone dystrophy" "" "0000254245" "04214" "00358947" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274669" "01709" "00380816" "00000" "Familial" "" "DD; short stature; bone malformation; failure to thrive (Neurological)" "" "" "" "" "" "" "" "" "Rhizomelic chondrodysplasia punctata, type 1" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 170 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000132914" "00132076" "1" "01396" "01396" "2017-10-18 19:22:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000295158" "00293990" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311358" "00310209" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311359" "00310210" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311360" "00310211" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311361" "00310212" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311362" "00310213" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311363" "00310214" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311364" "00310215" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311365" "00310216" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311366" "00310217" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311367" "00310218" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311368" "00310219" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311369" "00310220" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311370" "00310221" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311371" "00310222" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311372" "00310223" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311373" "00310224" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311374" "00310225" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311375" "00310226" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311376" "00310227" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311377" "00310228" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311378" "00310229" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311379" "00310230" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "ASO;SEQ" "DNA" "" "" "0000311380" "00310231" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311381" "00310232" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311382" "00310233" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311383" "00310234" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311384" "00310235" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311385" "00310236" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311386" "00310237" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311387" "00310238" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "ASO" "DNA" "" "" "0000311388" "00310239" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "ASO" "DNA" "" "" "0000311389" "00310240" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311390" "00310241" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311391" "00310242" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311392" "00310243" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311393" "00310244" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311394" "00310245" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311395" "00310246" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311396" "00310247" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311397" "00310248" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311398" "00310249" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311399" "00310250" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311400" "00310251" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311401" "00310252" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311402" "00310253" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311403" "00310254" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311404" "00310255" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311405" "00310256" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311406" "00310257" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311407" "00310258" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311408" "00310259" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311409" "00310260" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311410" "00310261" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311411" "00310262" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311412" "00310263" "1" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311413" "00310264" "1" "02015" "00006" "2006-06-20 19:01:00" "" "" "SEQ" "DNA" "" "" "0000311414" "00310265" "1" "02015" "00006" "2006-06-20 19:21:00" "" "" "SEQ" "DNA" "" "" "0000311415" "00310266" "1" "02015" "00006" "2006-10-19 11:44:00" "" "" "SEQ" "DNA" "" "" "0000311416" "00310267" "1" "02015" "00006" "2006-10-19 11:46:00" "" "" "SEQ" "DNA" "" "" "0000311417" "00310268" "1" "02015" "00006" "2006-10-19 12:06:00" "" "" "ASO;SEQ" "DNA" "" "" "0000311418" "00310269" "1" "02015" "00006" "2006-10-19 12:21:00" "" "" "SEQ" "DNA" "" "" "0000311419" "00310270" "1" "02015" "00006" "2006-10-19 12:30:00" "" "" "SEQ" "DNA" "" "" "0000311420" "00310271" "1" "02015" "00006" "2006-10-19 13:08:00" "" "" "SEQ" "DNA" "" "" "0000311421" "00310272" "1" "02015" "00006" "2006-10-19 13:24:00" "" "" "SEQ" "DNA" "" "" "0000311422" "00310273" "1" "02015" "00006" "2006-10-19 14:15:00" "" "" "SEQ" "DNA" "" "" "0000311423" "00310274" "1" "02015" "00006" "2006-10-19 14:17:00" "" "" "SEQ" "DNA" "" "" "0000311424" "00310275" "1" "02015" "00006" "2006-10-19 14:20:00" "" "" "SEQ" "DNA" "" "" "0000311425" "00310276" "1" "02015" "00006" "2006-10-19 14:20:00" "" "" "SEQ" "DNA" "" "" "0000311426" "00310277" "1" "02015" "00006" "2006-10-19 14:21:00" "" "" "SEQ" "DNA" "" "" "0000311427" "00310278" "1" "02015" "00006" "2006-10-19 14:21:00" "" "" "SEQ" "DNA" "" "" "0000311428" "00310279" "1" "02015" "00006" "2006-10-19 14:22:00" "" "" "SEQ" "DNA" "" "" "0000311429" "00310280" "1" "02015" "00006" "2006-10-19 14:22:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311430" "00310281" "1" "02015" "00006" "2006-10-19 14:25:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311431" "00310282" "1" "02015" "00006" "2006-10-19 14:25:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311432" "00310283" "1" "02015" "00006" "2006-10-19 14:25:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311433" "00310284" "1" "02015" "00006" "2006-10-19 14:26:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311434" "00310285" "1" "02015" "00006" "2006-10-19 14:26:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311435" "00310286" "1" "02015" "00006" "2006-10-19 14:26:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311436" "00310287" "1" "02015" "00006" "2006-10-19 14:27:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311437" "00310288" "1" "02015" "00006" "2006-10-19 14:28:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311438" "00310289" "1" "02015" "00006" "2006-10-19 14:28:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311439" "00310290" "1" "02015" "00006" "2006-10-19 14:28:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311440" "00310291" "1" "02015" "00006" "2006-10-19 14:29:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311441" "00310292" "1" "02015" "00006" "2006-10-19 14:29:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311442" "00310293" "1" "02015" "00006" "2006-10-19 14:30:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311443" "00310294" "1" "02015" "00006" "2006-10-19 14:30:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311444" "00310295" "0" "02015" "00006" "2006-10-19 14:30:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311445" "00310296" "0" "02015" "00006" "2006-10-19 14:31:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311446" "00310297" "0" "02015" "00006" "2006-10-19 14:31:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311447" "00310298" "0" "02015" "00006" "2006-10-19 14:31:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311448" "00310299" "0" "02015" "00006" "2006-10-19 14:32:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311449" "00310300" "0" "02015" "00006" "2006-10-19 14:32:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311450" "00310301" "0" "02015" "00006" "2006-10-19 14:33:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311451" "00310302" "0" "02015" "00006" "2006-10-19 14:33:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311452" "00310303" "0" "02015" "00006" "2006-10-19 14:34:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311453" "00310304" "0" "02015" "00006" "2006-10-19 14:34:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311454" "00310305" "0" "02015" "00006" "2006-10-19 14:34:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311455" "00310306" "0" "02015" "00006" "2006-10-19 14:39:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311456" "00310307" "0" "02015" "00006" "2006-10-19 16:48:00" "" "" "SEQ" "DNA" "" "" "0000311457" "00310308" "0" "02015" "00006" "2006-10-19 17:06:00" "" "" "SEQ" "DNA" "" "" "0000311458" "00310309" "0" "02015" "00006" "2008-12-11 17:14:00" "" "" "SEQ" "DNA" "" "" "0000311459" "00310310" "0" "02015" "00006" "2008-12-16 13:15:00" "" "" "SEQ" "DNA" "" "" "0000311460" "00310311" "0" "03773" "00006" "2009-06-12 14:30:38" "" "" "SEQ" "DNA" "" "" "0000311461" "00310312" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311462" "00310313" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311463" "00310314" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311464" "00310315" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311465" "00310316" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311466" "00310317" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311467" "00310318" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311468" "00310319" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311469" "00310320" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311470" "00310321" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311471" "00310322" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311472" "00310323" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311473" "00310324" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311474" "00310325" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311475" "00310326" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311476" "00310327" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311477" "00310328" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311478" "00310329" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311479" "00310330" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311480" "00310331" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311481" "00310332" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311482" "00310333" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311483" "00310334" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311484" "00310335" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311485" "00310336" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311486" "00310337" "0" "02015" "00006" "2006-05-05 10:07:00" "" "" "SEQ" "DNA" "" "" "0000311487" "00310338" "0" "02015" "00006" "2006-10-19 12:27:00" "" "" "SEQ" "DNA" "" "" "0000311488" "00310339" "0" "02015" "00006" "2006-10-19 12:34:00" "" "" "SEQ" "DNA" "" "" "0000311489" "00310340" "0" "02015" "00006" "2006-10-19 13:01:00" "" "" "SEQ" "DNA" "" "" "0000311490" "00310341" "0" "02015" "00006" "2006-10-19 13:02:00" "" "" "SEQ" "DNA" "" "" "0000311491" "00310342" "0" "02015" "00006" "2006-10-19 13:04:00" "" "" "SEQ" "DNA" "" "" "0000311492" "00310343" "0" "02015" "00006" "2006-10-19 13:07:00" "" "" "SEQ" "DNA" "" "" "0000311493" "00310344" "0" "02015" "00006" "2006-10-19 13:25:00" "" "" "SEQ" "DNA" "" "" "0000311494" "00310345" "0" "02015" "00006" "2006-10-19 14:41:00" "" "" "SEQ" "DNA" "" "" "0000311495" "00310346" "0" "02015" "00006" "2006-10-19 14:43:00" "" "" "SEQ" "DNA" "" "" "0000311496" "00310347" "0" "02015" "00006" "2006-10-19 14:46:00" "" "" "SEQ" "DNA" "" "" "0000311497" "00310348" "0" "02015" "00006" "2006-10-19 15:17:00" "" "" "SEQ" "DNA" "" "" "0000311498" "00310349" "0" "02015" "00006" "2006-10-19 15:18:00" "" "" "SEQ" "DNA" "" "" "0000311499" "00310350" "0" "02015" "00006" "2006-10-19 15:21:00" "" "" "SEQ" "DNA" "" "" "0000311500" "00310351" "1" "02015" "00006" "2006-10-19 15:25:00" "00006" "2020-09-10 10:05:50" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311501" "00310352" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311502" "00310353" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311503" "00310354" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311504" "00310355" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311505" "00310356" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311506" "00310357" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311507" "00310358" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311508" "00310359" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311509" "00310360" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311510" "00310361" "1" "00006" "00006" "2020-09-10 10:04:30" "00006" "2020-09-10 10:18:34" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311511" "00310362" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311512" "00310363" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311513" "00310364" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311514" "00310365" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311515" "00310366" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311516" "00310367" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311517" "00310368" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311518" "00310369" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311519" "00310370" "1" "00006" "00006" "2020-09-10 10:04:30" "" "" "SEQ" "DNA" "" "" "0000311520" "00310371" "1" "00006" "00006" "2020-09-10 10:14:11" "00006" "2020-09-10 10:17:47" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311521" "00310372" "1" "00006" "00006" "2020-09-10 10:25:53" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000325718" "00324526" "1" "03960" "03960" "2020-12-18 10:26:14" "00006" "2021-01-05 14:19:27" "SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000328015" "00326802" "1" "03849" "03849" "2021-01-14 17:12:03" "" "" "SEQ" "DNA" "Blood" "" "0000360184" "00358947" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000382030" "00380816" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 170 "{{screeningid}}" "{{geneid}}" "0000132914" "ARSE" "0000132914" "EBP" "0000132914" "LBR" "0000132914" "PEX7" "0000311358" "PEX7" "0000311359" "PEX7" "0000311360" "PEX7" "0000311361" "PEX7" "0000311362" "PEX7" "0000311363" "PEX7" "0000311364" "PEX7" "0000311365" "PEX7" "0000311366" "PEX7" "0000311367" "PEX7" "0000311368" "PEX7" "0000311369" "PEX7" "0000311370" "PEX7" "0000311371" "PEX7" "0000311372" "PEX7" "0000311373" "PEX7" "0000311374" "PEX7" "0000311375" "PEX7" "0000311376" "PEX7" "0000311377" "PEX7" "0000311378" "PEX7" "0000311379" "PEX7" "0000311380" "PEX7" "0000311381" "PEX7" "0000311382" "PEX7" "0000311383" "PEX7" "0000311384" "PEX7" "0000311385" "PEX7" "0000311386" "PEX7" "0000311387" "PEX7" "0000311388" "PEX7" "0000311389" "PEX7" "0000311390" "PEX7" "0000311391" "PEX7" "0000311392" "PEX7" "0000311393" "PEX7" "0000311394" "PEX7" "0000311395" "PEX7" "0000311396" "PEX7" "0000311397" "PEX7" "0000311398" "PEX7" "0000311399" "PEX7" "0000311400" "PEX7" "0000311401" "PEX7" "0000311402" "PEX7" "0000311403" "PEX7" "0000311404" "PEX7" "0000311405" "PEX7" "0000311406" "PEX7" "0000311407" "PEX7" "0000311408" "PEX7" "0000311409" "PEX7" "0000311410" "PEX7" "0000311411" "PEX7" "0000311412" "PEX7" "0000311413" "PEX7" "0000311414" "PEX7" "0000311415" "PEX7" "0000311416" "PEX7" "0000311417" "PEX7" "0000311418" "PEX7" "0000311419" "PEX7" "0000311420" "PEX7" "0000311421" "PEX7" "0000311422" "PEX7" "0000311423" "PEX7" "0000311424" "PEX7" "0000311425" "PEX7" "0000311426" "PEX7" "0000311427" "PEX7" "0000311428" "PEX7" "0000311429" "PEX7" "0000311430" "PEX7" "0000311431" "PEX7" "0000311432" "PEX7" "0000311433" "PEX7" "0000311434" "PEX7" "0000311435" "PEX7" "0000311436" "PEX7" "0000311437" "PEX7" "0000311438" "PEX7" "0000311439" "PEX7" "0000311440" "PEX7" "0000311441" "PEX7" "0000311442" "PEX7" "0000311443" "PEX7" "0000311444" "PEX7" "0000311445" "PEX7" "0000311446" "PEX7" "0000311447" "PEX7" "0000311448" "PEX7" "0000311449" "PEX7" "0000311450" "PEX7" "0000311451" "PEX7" "0000311452" "PEX7" "0000311453" "PEX7" "0000311454" "PEX7" "0000311455" "PEX7" "0000311456" "PEX7" "0000311457" "PEX7" "0000311458" "PEX7" "0000311459" "PEX7" "0000311460" "PEX7" "0000311461" "PEX7" "0000311462" "PEX7" "0000311463" "PEX7" "0000311464" "PEX7" "0000311465" "PEX7" "0000311466" "PEX7" "0000311467" "PEX7" "0000311468" "PEX7" "0000311469" "PEX7" "0000311470" "PEX7" "0000311471" "PEX7" "0000311472" "PEX7" "0000311473" "PEX7" "0000311474" "PEX7" "0000311475" "PEX7" "0000311476" "PEX7" "0000311477" "PEX7" "0000311478" "PEX7" "0000311479" "PEX7" "0000311480" "PEX7" "0000311481" "PEX7" "0000311482" "PEX7" "0000311483" "PEX7" "0000311484" "PEX7" "0000311485" "PEX7" "0000311486" "PEX7" "0000311487" "PEX7" "0000311488" "PEX7" "0000311489" "PEX7" "0000311490" "PEX7" "0000311491" "PEX7" "0000311492" "PEX7" "0000311493" "PEX7" "0000311494" "PEX7" "0000311495" "PEX7" "0000311496" "PEX7" "0000311497" "PEX7" "0000311498" "PEX7" "0000311499" "PEX7" "0000311500" "PEX7" "0000311501" "PEX7" "0000311502" "PEX7" "0000311503" "PEX7" "0000311504" "PEX7" "0000311505" "PEX7" "0000311506" "PEX7" "0000311507" "PEX7" "0000311508" "PEX7" "0000311509" "PEX7" "0000311510" "PEX7" "0000311511" "PEX7" "0000311512" "PEX7" "0000311513" "PEX7" "0000311514" "PEX7" "0000311515" "PEX7" "0000311516" "PEX7" "0000311517" "PEX7" "0000311518" "PEX7" "0000311519" "PEX7" "0000311520" "PEX7" "0000311521" "PEX7" "0000325718" "POC1B" "0000328015" "POC1B" ## 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 = 276 "{{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}}" "0000222098" "11" "70" "6" "137219278" "137219278" "subst" "0.0000121936" "01396" "PEX7_000042" "g.137219278A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898140A>C" "" "likely pathogenic" "" "0000222099" "21" "70" "6" "137219351" "137219351" "subst" "0.000312919" "01396" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "likely pathogenic" "" "0000246437" "0" "10" "6" "137166790" "137166790" "subst" "0.00395604" "02330" "PEX7_000049" "g.137166790A>C" "" "" "" "PEX7(NM_000288.3):c.377A>C (p.Q126P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136845652A>C" "" "benign" "" "0000254163" "0" "30" "6" "137166790" "137166790" "subst" "0.00395604" "01943" "PEX7_000049" "g.137166790A>C" "" "" "" "PEX7(NM_000288.3):c.377A>C (p.Q126P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136845652A>C" "" "likely benign" "" "0000293693" "0" "30" "6" "137147581" "137147581" "subst" "0.0000446686" "02330" "PEX7_000047" "g.137147581C>A" "" "" "" "PEX7(NM_000288.3):c.313C>A (p.Q105K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136826443C>A" "" "likely benign" "" "0000293694" "0" "30" "6" "137187814" "137187814" "subst" "0.0000609399" "02330" "PEX7_000051" "g.137187814C>T" "" "" "" "PEX7(NM_000288.3):c.576C>T (p.I192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136866676C>T" "" "likely benign" "" "0000293695" "0" "10" "6" "137193331" "137193331" "del" "0" "02330" "PEX7_000059" "g.137193331del" "" "" "" "PEX7(NM_000288.3):c.748-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136872193del" "" "benign" "" "0000293700" "0" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02330" "PEX7_000001" "g.137219351T>A" "" "" "" "PEX7(NM_000288.3):c.875T>A (p.L292*), PEX7(NM_000288.4):c.875T>A (p.L292*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic" "" "0000296923" "0" "90" "6" "137146351" "137146351" "subst" "0" "02325" "PEX7_000045" "g.137146351G>A" "" "" "" "PEX7(NM_000288.4):c.131-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136825213G>A" "" "pathogenic" "" "0000296924" "0" "50" "6" "137143805" "137143805" "subst" "0" "02325" "PEX7_000043" "g.137143805T>G" "" "" "" "PEX7(NM_000288.4):c.2T>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136822667T>G" "" "VUS" "" "0000296925" "0" "90" "6" "137191043" "137191043" "subst" "0.0000365613" "02325" "PEX7_000006" "g.137191043G>A" "" "" "" "PEX7(NM_000288.4):c.649G>A (p.G217R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136869905G>A" "" "pathogenic" "" "0000296926" "0" "90" "6" "137191047" "137191047" "subst" "0.0000325045" "02325" "PEX7_000007" "g.137191047C>T" "" "" "" "PEX7(NM_000288.4):c.653C>T (p.A218V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136869909C>T" "" "pathogenic" "" "0000296927" "0" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02325" "PEX7_000001" "g.137219351T>A" "" "" "" "PEX7(NM_000288.3):c.875T>A (p.L292*), PEX7(NM_000288.4):c.875T>A (p.L292*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic" "" "0000296928" "0" "90" "6" "137219380" "137219380" "subst" "0.0000569397" "02325" "PEX7_000002" "g.137219380G>C" "" "" "" "PEX7(NM_000288.4):c.903+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136898242G>C" "" "pathogenic" "" "0000298850" "0" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02329" "PEX7_000001" "g.137219351T>A" "" "" "" "PEX7(NM_000288.3):c.875T>A (p.L292*), PEX7(NM_000288.4):c.875T>A (p.L292*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic" "" "0000300727" "0" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02326" "PEX7_000001" "g.137219351T>A" "" "" "" "PEX7(NM_000288.3):c.875T>A (p.L292*), PEX7(NM_000288.4):c.875T>A (p.L292*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic" "" "0000300728" "0" "70" "6" "137234595" "137234595" "subst" "0.00000406616" "02326" "PEX7_000057" "g.137234595G>A" "" "" "" "PEX7(NM_000288.4):c.904-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136913457G>A" "" "likely pathogenic" "" "0000305503" "0" "30" "6" "137146347" "137146347" "subst" "0" "01943" "PEX7_000044" "g.137146347T>G" "" "" "" "PEX7(NM_000288.3):c.131-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136825209T>G" "" "likely benign" "" "0000305504" "0" "50" "6" "137147482" "137147482" "subst" "0" "01943" "PEX7_000046" "g.137147482G>A" "" "" "" "PEX7(NM_000288.3):c.214G>A (p.D72N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136826344G>A" "" "VUS" "" "0000305505" "0" "50" "6" "137187772" "137187772" "subst" "0.0000162555" "01943" "PEX7_000050" "g.137187772G>C" "" "" "" "PEX7(NM_000288.3):c.534G>C (p.Q178H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136866634G>C" "" "VUS" "" "0000305506" "0" "90" "6" "137219351" "137219351" "subst" "0.000312919" "01943" "PEX7_000001" "g.137219351T>A" "" "" "" "PEX7(NM_000288.3):c.875T>A (p.L292*), PEX7(NM_000288.4):c.875T>A (p.L292*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic" "" "0000331243" "0" "50" "6" "137147584" "137147584" "subst" "0" "01804" "PEX7_000048" "g.137147584G>C" "" "" "" "PEX7(NM_000288.3):c.316G>C (p.(Val106Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136826446G>C" "" "VUS" "" "0000337184" "0" "30" "6" "137193320" "137193320" "subst" "0" "02327" "PEX7_000054" "g.137193320C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136872182C>T" "" "likely benign" "" "0000347079" "0" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02327" "PEX7_000001" "g.137219351T>A" "" "" "" "PEX7(NM_000288.3):c.875T>A (p.L292*), PEX7(NM_000288.4):c.875T>A (p.L292*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic" "" "0000527308" "0" "50" "6" "137143910" "137143910" "subst" "0.0000317108" "02330" "PEX7_000061" "g.137143910C>T" "" "" "" "PEX7(NM_000288.3):c.107C>T (p.T36I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136822772C>T" "" "VUS" "" "0000527309" "0" "90" "6" "137147466" "137147466" "subst" "0.00000406161" "01943" "PEX7_000062" "g.137147466G>A" "" "" "" "PEX7(NM_000288.3):c.198G>A (p.W66*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136826328G>A" "" "pathogenic" "" "0000527310" "0" "90" "6" "137147525" "137147525" "subst" "0" "02327" "PEX7_000063" "g.137147525G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136826387G>A" "" "pathogenic" "" "0000527311" "0" "30" "6" "137147598" "137147598" "subst" "0.000170567" "01943" "PEX7_000064" "g.137147598C>T" "" "" "" "PEX7(NM_000288.3):c.330C>T (p.H110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136826460C>T" "" "likely benign" "" "0000527312" "0" "50" "6" "137167303" "137167303" "subst" "0" "02325" "PEX7_000065" "g.137167303T>G" "" "" "" "PEX7(NM_000288.4):c.510T>G (p.C170W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136846165T>G" "" "VUS" "" "0000527313" "0" "10" "6" "137167329" "137167329" "subst" "0.00000409719" "02330" "PEX7_000066" "g.137167329T>C" "" "" "" "PEX7(NM_000288.3):c.526+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136846191T>C" "" "benign" "" "0000527314" "0" "10" "6" "137191152" "137191152" "subst" "0" "02330" "PEX7_000067" "g.137191152A>T" "" "" "" "PEX7(NM_000288.3):c.747+11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136870014A>T" "" "benign" "" "0000527315" "0" "10" "6" "137193331" "137193331" "dup" "0" "02330" "PEX7_000068" "g.137193331dup" "" "" "" "PEX7(NM_000288.3):c.748-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136872193dup" "" "benign" "" "0000527317" "0" "30" "6" "137193334" "137193334" "subst" "0" "01804" "PEX7_000069" "g.137193334A>T" "" "" "" "PEX7(NM_000288.3):c.748-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136872196A>T" "" "likely benign" "" "0000527318" "0" "30" "6" "137193335" "137193335" "subst" "0" "01804" "PEX7_000070" "g.137193335G>T" "" "" "" "PEX7(NM_000288.3):c.748-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136872197G>T" "" "likely benign" "" "0000527319" "0" "30" "6" "137193340" "137193340" "subst" "0" "01804" "PEX7_000071" "g.137193340C>T" "" "" "" "PEX7(NM_000288.3):c.752C>T (p.(Ser251Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136872202C>T" "" "likely benign" "" "0000527320" "0" "50" "6" "137219308" "137219308" "subst" "0" "02325" "PEX7_000072" "g.137219308C>T" "" "" "" "PEX7(NM_000288.3):c.832C>T (p.L278F), PEX7(NM_000288.4):c.832C>T (p.L278F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136898170C>T" "" "VUS" "" "0000527321" "0" "30" "6" "137234663" "137234663" "subst" "0.0000447285" "01943" "PEX7_000073" "g.137234663G>A" "" "" "" "PEX7(NM_000288.3):c.971G>A (p.*324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136913525G>A" "" "likely benign" "" "0000610049" "0" "10" "6" "137187853" "137187853" "subst" "0.000950725" "02330" "PEX7_000074" "g.137187853C>T" "" "" "" "PEX7(NM_000288.3):c.615C>T (p.D205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136866715C>T" "" "benign" "" "0000610050" "0" "90" "6" "137191088" "137191088" "subst" "0.00000406128" "02327" "PEX7_000075" "g.137191088C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136869950C>T" "" "pathogenic" "" "0000610051" "0" "70" "6" "137193373" "137193373" "subst" "0.0000205078" "01943" "PEX7_000010" "g.137193373C>T" "" "" "" "PEX7(NM_000288.3):c.785C>T (p.S262L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136872235C>T" "" "likely pathogenic" "" "0000610052" "0" "90" "6" "137219380" "137219380" "subst" "0.0000569397" "02327" "PEX7_000002" "g.137219380G>C" "" "" "" "PEX7(NM_000288.4):c.903+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136898242G>C" "" "pathogenic" "" "0000621641" "0" "30" "6" "137187853" "137187853" "subst" "0.000950725" "01943" "PEX7_000074" "g.137187853C>T" "" "" "" "PEX7(NM_000288.3):c.615C>T (p.D205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136866715C>T" "" "likely benign" "" "0000651847" "1" "30" "6" "137166790" "137166790" "subst" "0.00395604" "03575" "PEX7_000049" "g.137166790A>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs113268723}" "Germline" "" "rs113268723" "0" "" "" "g.136845652A>C" "" "likely benign" "" "0000655488" "0" "10" "6" "137191161" "137191165" "del" "0" "02330" "PEX7_000077" "g.137191161_137191165del" "" "" "" "PEX7(NM_000288.3):c.747+20_747+24delTTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136870023_136870027del" "" "benign" "" "0000677633" "0" "30" "6" "137147583" "137147583" "subst" "0" "01943" "PEX7_000078" "g.137147583A>G" "" "" "" "PEX7(NM_000288.3):c.315A>G (p.Q105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677634" "0" "50" "6" "137219308" "137219308" "subst" "0" "01943" "PEX7_000072" "g.137219308C>T" "" "" "" "PEX7(NM_000288.3):c.832C>T (p.L278F), PEX7(NM_000288.4):c.832C>T (p.L278F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000686733" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686734" "1" "90" "6" "137146410" "137146410" "subst" "0" "02015" "PEX7_000004" "g.137146410G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136825272G>A" "" "pathogenic (recessive)" "" "0000686735" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686736" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686737" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686738" "1" "90" "6" "137191142" "137191142" "subst" "0" "02015" "PEX7_000008" "g.137191142G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136870004G>A" "" "pathogenic (recessive)" "" "0000686739" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686740" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686741" "1" "90" "6" "137146410" "137146410" "subst" "0" "02015" "PEX7_000004" "g.137146410G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136825272G>A" "" "pathogenic (recessive)" "" "0000686742" "1" "90" "6" "137146410" "137146410" "subst" "0" "02015" "PEX7_000004" "g.137146410G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136825272G>A" "" "pathogenic (recessive)" "" "0000686743" "1" "90" "6" "137219380" "137219380" "subst" "0.0000569397" "02015" "PEX7_000002" "g.137219380G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898242G>C" "" "pathogenic (recessive)" "" "0000686744" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686745" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686746" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686747" "1" "90" "6" "137219380" "137219380" "subst" "0.0000569397" "02015" "PEX7_000002" "g.137219380G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898242G>C" "" "pathogenic (recessive)" "" "0000686748" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686749" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686750" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686751" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686752" "1" "90" "6" "137191047" "137191047" "subst" "0.0000325045" "02015" "PEX7_000007" "g.137191047C>T" "" "{PMID:Braverman 1997:9090381}, {PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136869909C>T" "" "pathogenic (recessive)" "" "0000686753" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686754" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686755" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686756" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686757" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686758" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686759" "1" "90" "6" "137143925" "137143925" "subst" "0" "02015" "PEX7_000017" "g.137143925G>T" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136822787G>T" "" "pathogenic (recessive)" "" "0000686760" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686761" "1" "90" "6" "137187856" "137187856" "subst" "0.0000121892" "02015" "PEX7_000012" "g.137187856G>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136866718G>A" "" "pathogenic (recessive)" "" "0000686762" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686763" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686764" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686765" "1" "90" "6" "137219380" "137219380" "subst" "0.0000569397" "02015" "PEX7_000002" "g.137219380G>C" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898242G>C" "" "pathogenic (recessive)" "" "0000686766" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686767" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686768" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686769" "1" "90" "6" "137219380" "137219380" "subst" "0.0000569397" "02015" "PEX7_000002" "g.137219380G>C" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898242G>C" "" "pathogenic (recessive)" "" "0000686770" "1" "90" "6" "137166758" "137166758" "subst" "0.000040618" "02015" "PEX7_000023" "g.137166758T>G" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136845620T>G" "" "pathogenic (recessive)" "" "0000686771" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686772" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686773" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686774" "1" "90" "6" "137219380" "137219380" "subst" "0.0000569397" "02015" "PEX7_000002" "g.137219380G>C" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898242G>C" "" "pathogenic (recessive)" "" "0000686775" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686776" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686777" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686778" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686779" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686780" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686781" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686782" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686783" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686784" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686785" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686786" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686787" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686788" "1" "90" "6" "137143923" "137143923" "subst" "0.0000834725" "02015" "PEX7_000011" "g.137143923C>G" "" "{PMID:van den Brink 2003:12522768}" "" "" "" "Germline" "" "" "0" "" "" "g.136822785C>G" "" "pathogenic (recessive)" "" "0000686789" "1" "90" "6" "137143923" "137143923" "subst" "0.0000834725" "02015" "PEX7_000011" "g.137143923C>G" "" "{PMID:van den Brink 2003:12522768}" "" "" "" "Germline" "" "" "0" "" "" "g.136822785C>G" "" "pathogenic (recessive)" "" "0000686790" "1" "90" "6" "137191043" "137191043" "subst" "0.0000365613" "02015" "PEX7_000006" "g.137191043G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136869905G>A" "" "pathogenic (recessive)" "" "0000686791" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686792" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686793" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686794" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Braverman 2002:12325024}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686795" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686796" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686797" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686798" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686799" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686800" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686801" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136898213T>A" "" "pathogenic (recessive)" "" "0000686802" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "02015" "PEX7_000001" "g.137219351T>A" 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"137147463" "137147464" "del" "0" "00006" "PEX7_000082" "g.137147463_137147464del" "" "{PMID:Motley 2002:11781871}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "g.136826325_136826326del" "" "pathogenic (recessive)" "" "0000686941" "3" "90" "6" "137166783" "137166809" "del" "0" "00006" "PEX7_000037" "g.137166783_137166809del" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136845645_136845671del" "" "pathogenic (recessive)" "" "0000686942" "3" "90" "6" "137166783" "137166809" "del" "0" "00006" "PEX7_000037" "g.137166783_137166809del" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136845645_136845671del" "" "pathogenic (recessive)" "" "0000686943" "3" "90" "6" "137166783" "137166809" "del" "0" "00006" "PEX7_000037" "g.137166783_137166809del" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136845645_136845671del" "" "pathogenic (recessive)" "" "0000686944" "3" "90" "6" "137166783" "137166809" "del" "0" "00006" "PEX7_000037" "g.137166783_137166809del" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136845645_136845671del" "" "pathogenic (recessive)" "" "0000686945" "3" "90" "6" "137166783" "137166809" "del" "0" "00006" "PEX7_000037" "g.137166783_137166809del" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136845645_136845671del" "" "pathogenic (recessive)" "" "0000686946" "1" "90" "6" "137219318" "137219318" "del" "0" "00006" "PEX7_000088" "g.137219318del" "" "{PMID:Motley 2002:11781871}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "g.136898180del" "" "pathogenic (recessive)" "" "0000686947" "3" "90" "6" "137143934" "137143934" "subst" "0" "00006" "PEX7_000080" "g.137143934G>C" "" "{PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "g.136822796G>C" "" "pathogenic (recessive)" "" "0000686948" "1" "90" "6" "137143936" "137143936" "subst" "0" "00006" "PEX7_000081" "g.137143936G>C" "" "{PMID:Motley 2002:11781871}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "g.136822798G>C" "" "pathogenic (recessive)" "" "0000686949" "1" "90" "6" "137191047" "137191047" "subst" "0.0000325045" "00006" "PEX7_000007" "g.137191047C>T" "" "{PMID:Shimozawa 1999:10083738}, {PMID:Motley 2002:11781871}" "" "635C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686950" "2" "90" "6" "137219351" "137219351" "subst" "0.000312919" "00006" "PEX7_000001" "g.137219351T>A" "" "{PMID:Shimozawa 1999:10083738}, {PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686951" "2" "90" "6" "137219380" "137219380" "subst" "0.0000569397" "00006" "PEX7_000002" "g.137219380G>C" "" "{PMID:Purdue 1997:9090383}, {PMID:Motley 2002:11781871}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686952" "1" "90" "6" "137219351" "137219351" "subst" "0.000312919" "00006" "PEX7_000001" "g.137219351T>A" "" "{PMID:Purdue 1997:9090383}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000710800" "0" "30" "6" "137191089" "137191089" "subst" "0.000239623" "00006" "PEX7_000089" "g.137191089G>A" "" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "" "G695A" "" "Germline" "" "rs191969418" "0" "" "" "" "" "likely benign" "" "0000711874" "0" "10" "6" "137191089" "137191089" "subst" "0.000239623" "00006" "PEX7_000089" "g.137191089G>A" "" "{PMID:Kominami 2017:29220607}, {PMID:Kominami 2017:10.1080/13816810.2017.1408846}" "" "G695A" "" "Germline" "" "rs191969418" "0" "" "" "" "" "benign" "" "0000720688" "0" "10" "6" "137166682" "137166682" "subst" "0" "02327" "PEX7_000090" "g.137166682G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720689" "0" "30" "6" "137187814" "137187814" "subst" "0.0000609399" "01943" "PEX7_000051" "g.137187814C>T" "" "" "" "PEX7(NM_000288.3):c.576C>T (p.I192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720690" "0" "30" "6" "137219298" "137219298" "subst" "0" "01943" "PEX7_000091" "g.137219298G>T" "" "" "" "PEX7(NM_000288.3):c.822G>T (p.K274N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000759970" "0" "50" "6" "137166790" "137166790" "subst" "0.00395604" "00000" "PEX7_000049" "g.137166790A>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.136845652A>C" "" "VUS" "" "0000795664" "3" "70" "6" "137219351" "137219351" "subst" "0.000312919" "00000" "PEX7_000001" "g.137219351T>A" "" "{PMID:Nair 2018:30293248}" "" "NM_000288.3:c.875T>A; p.L292X" "" "Unknown" "?" "rs1805137" "0" "" "" "g.136898213T>A" "" "likely pathogenic" "" "0000802327" "0" "30" "6" "137146412" "137146412" "subst" "0.000158386" "01804" "PEX7_000092" "g.137146412A>G" "" "" "" "PEX7(NM_000288.3):c.188+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802328" "0" "30" "6" "137147502" "137147502" "subst" "0.0000933972" "01804" "PEX7_000093" "g.137147502C>A" "" "" "" "PEX7(NM_000288.3):c.234C>A (p.(Asn78Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802329" "0" "50" "6" "137167217" "137167217" "subst" "0" "01943" "PEX7_000094" "g.137167217C>T" "" "" "" "PEX7(NM_000288.3):c.424C>T (p.P142S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PEX7 ## Count = 276 "{{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}}" "0000222098" "00015988" "70" "804" "-2" "804" "-2" "c.804-2A>C" "r.spl" "p.?" "8i" "0000222099" "00015988" "70" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000246437" "00015988" "10" "377" "0" "377" "0" "c.377A>C" "r.(?)" "p.(Gln126Pro)" "" "0000254163" "00015988" "30" "377" "0" "377" "0" "c.377A>C" "r.(?)" "p.(Gln126Pro)" "" "0000293693" "00015988" "30" "313" "0" "313" "0" "c.313C>A" "r.(?)" "p.(Gln105Lys)" "" "0000293694" "00015988" "30" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Ile192=)" "" "0000293695" "00015988" "10" "748" "-5" "748" "-5" "c.748-5del" "r.spl?" "p.?" "" "0000293700" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292Ter)" "" "0000296923" "00015988" "90" "131" "-1" "131" "-1" "c.131-1G>A" "r.spl?" "p.?" "" "0000296924" "00015988" "50" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000296925" "00015988" "90" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Gly217Arg)" "" "0000296926" "00015988" "90" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ala218Val)" "" "0000296927" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292Ter)" "" "0000296928" "00015988" "90" "903" "1" "903" "1" "c.903+1G>C" "r.spl?" "p.?" "" "0000298850" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292Ter)" "" "0000300727" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292Ter)" "" "0000300728" "00015988" "70" "904" "-1" "904" "-1" "c.904-1G>A" "r.spl?" "p.?" "" "0000305503" "00015988" "30" "131" "-5" "131" "-5" "c.131-5T>G" "r.spl?" "p.?" "" "0000305504" "00015988" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Asp72Asn)" "" "0000305505" "00015988" "50" "534" "0" "534" "0" "c.534G>C" "r.(?)" "p.(Gln178His)" "" "0000305506" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292Ter)" "" "0000331243" "00015988" "50" "316" "0" "316" "0" "c.316G>C" "r.(?)" "p.(Val106Leu)" "" "0000337184" "00015988" "30" "748" "-16" "748" "-16" "c.748-16C>T" "r.(=)" "p.(=)" "" "0000347079" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292Ter)" "" "0000527308" "00015988" "50" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Ile)" "" "0000527309" "00015988" "90" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Trp66Ter)" "" "0000527310" "00015988" "90" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Cys86Tyr)" "" "0000527311" "00015988" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(His110=)" "" "0000527312" "00015988" "50" "510" "0" "510" "0" "c.510T>G" "r.(?)" "p.(Cys170Trp)" "" "0000527313" "00015988" "10" "526" "10" "526" "10" "c.526+10T>C" "r.(=)" "p.(=)" "" "0000527314" "00015988" "10" "747" "11" "747" "11" "c.747+11A>T" "r.(=)" "p.(=)" "" "0000527315" "00015988" "10" "748" "-5" "748" "-5" "c.748-5dup" "r.spl?" "p.?" "" "0000527317" "00015988" "30" "748" "-2" "748" "-2" "c.748-2A>T" "r.spl?" "p.?" "" "0000527318" "00015988" "30" "748" "-1" "748" "-1" "c.748-1G>T" "r.spl?" "p.?" "" "0000527319" "00015988" "30" "752" "0" "752" "0" "c.752C>T" "r.(?)" "p.(Ser251Leu)" "" "0000527320" "00015988" "50" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Leu278Phe)" "" "0000527321" "00015988" "30" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Ter324=)" "" "0000610049" "00015988" "10" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Asp205=)" "" "0000610050" "00015988" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Ter)" "" "0000610051" "00015988" "70" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ser262Leu)" "" "0000610052" "00015988" "90" "903" "1" "903" "1" "c.903+1G>C" "r.spl?" "p.?" "" "0000621641" "00015988" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Asp205=)" "" "0000651847" "00015988" "30" "377" "0" "377" "0" "c.377A>C" "r.(?)" "p.(Gln126Pro)" "" "0000655488" "00015988" "10" "747" "20" "747" "24" "c.747+20_747+24del" "r.(=)" "p.(=)" "" "0000677633" "00015988" "30" "315" "0" "315" "0" "c.315A>G" "r.(?)" "p.(Gln105=)" "" "0000677634" "00015988" "50" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Leu278Phe)" "" "0000686733" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686734" "00015988" "90" "188" "1" "188" "1" "c.188+1G>A" "r.spl" "p.?" "2i" "0000686735" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686736" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686737" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686738" "00015988" "90" "747" "1" "747" "1" "c.747+1G>A" "r.spl" "p.?" "7i" "0000686739" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686740" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686741" "00015988" "90" "188" "1" "188" "1" "c.188+1G>A" "r.spl" "p.?" "2i" "0000686742" "00015988" "90" "188" "1" "188" "1" "c.188+1G>A" "r.spl" "p.?" "2i" "0000686743" "00015988" "90" "903" "1" "903" "1" "c.903+1G>C" "r.spl" "p.?" "9i" "0000686744" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686745" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686746" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686747" "00015988" "90" "903" "1" "903" "1" "c.903+1G>C" "r.spl" "p.?" "9i" "0000686748" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686749" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686750" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686751" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686752" "00015988" "90" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ala218Val)" "7" "0000686753" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686754" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686755" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686756" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686757" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "9" "0000686758" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" 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"p.(His110Arg)" "3" "0000686919" "00015988" "90" "-45" "0" "-45" "0" "c.-45C>T" "r.(?)" "p.0?" "1" "0000686920" "00015988" "90" "854" "0" "854" "0" "c.854A>G" "r.(?)" "p.(His285Arg)" "9" "0000686921" "00015988" "90" "773" "0" "773" "0" "c.773T>C" "r.(?)" "p.(Leu258Pro)" "8" "0000686922" "00015988" "90" "45" "0" "52" "0" "c.45_52del" "r.(?)" "p.(Gly16Argfs*37)" "1" "0000686923" "00015988" "90" "13" "0" "19" "0" "c.13_19dup" "r.(?)" "p.(Gly7Valfs*51)" "1" "0000686924" "00015988" "90" "40" "0" "40" "0" "c.40A>C" "r.(?)" "p.(Thr14Pro)" "1" "0000686925" "00015988" "90" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Gly217Arg)" "7" "0000686926" "00015988" "90" "903" "1" "903" "1" "c.903+1G>C" "r.804_903del" "p.?" "9i" "0000686927" "00015988" "90" "903" "1" "903" "1" "c.903+1G>C" "r.804_903del" "p.?" "9i" "0000686928" "00015988" "90" "854" "0" "854" "0" "c.854A>G" "r.854a>g" "p.His285Arg" "9" "0000686929" "00015988" "50" "119" "0" "119" "0" "c.119A>G" "r.(?)" "p.(Tyr40Cys)" "" "0000686930" "00015988" "90" "209" "0" "209" "0" "c.209T>G" "r.(?)" "p.(Leu70Trp)" "" "0000686931" "00015988" "90" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Cys86Tyr)" "" "0000686932" "00015988" "90" "283" "0" "283" "0" "c.283T>G" "r.(?)" "p.(Trp95Gly)" "" "0000686933" "00015988" "90" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Asp134Asn)" "" "0000686934" "00015988" "90" "721" "0" "721" "0" "c.721A>T" "r.(?)" "p.(His241Leu)" "" "0000686935" "00015988" "90" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ser262Leu)" "" "0000686936" "00015988" "90" "60" "0" "60" "0" "c.60C>A" "r.(?)" "p.(Tyr20*)" "" "0000686937" "00015988" "90" "345" "0" "345" "0" "c.345T>G" "r.(?)" "p.(Tyr115*)" "" "0000686938" "00015988" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Gln126*)" "" "0000686939" "00015988" "90" "694" "0" "694" "0" "c.694C>T" "r.694c>u" "p.Arg232*" "" "0000686940" "00015988" "90" "195" "0" "196" "0" "c.195_196del" "r.(?)" "p.(Asp65Glufs*3)" "" "0000686941" "00015988" "90" "370" "0" "396" "0" "c.370_396del" "r.(?)" "p.(Gly124_Ser132del)" "" "0000686942" "00015988" "90" "370" "0" "396" "0" "c.370_396del" "r.(?)" "p.(Gly124_Ser132del)" "" "0000686943" "00015988" "90" "370" "0" "396" "0" "c.370_396del" "r.(?)" "p.(Gly124_Ser132del)" "" "0000686944" "00015988" "90" "370" "0" "396" "0" "c.370_396del" "r.(?)" "p.(Gly124_Ser132del)" "" "0000686945" "00015988" "90" "370" "0" "396" "0" "c.370_396del" "r.(?)" "p.(Gly124_Ser132del)" "" "0000686946" "00015988" "90" "842" "0" "842" "0" "c.842del" "r.(?)" "p.(Thr281Lysfs*12)" "" "0000686947" "00015988" "90" "130" "1" "130" "1" "c.130+1G>C" "r.spl" "p.?" "" "0000686948" "00015988" "90" "130" "3" "130" "3" "c.130+3G>C" "r.spl" "p.?" "" "0000686949" "00015988" "90" "653" "0" "653" "0" "c.653C>T" "r.653c>u" "p.Ala218Val" "" "0000686950" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.875u>a" "p.Leu292*" "" "0000686951" "00015988" "90" "903" "1" "903" "1" "c.903+1G>C" "r.804_903del" "p.?" "" "0000686952" "00015988" "90" "875" "0" "875" "0" "c.875T>A" "r.875u>a" "p.Leu292*" "" "0000710800" "00015988" "30" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "7" "0000711874" "00015988" "10" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "" "0000720688" "00015988" "10" "340" "-71" "340" "-71" "c.340-71G>A" "r.(=)" "p.(=)" "" "0000720689" "00015988" "30" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Ile192=)" "" "0000720690" "00015988" "30" "822" "0" "822" "0" "c.822G>T" "r.(?)" "p.(Lys274Asn)" "" "0000759970" "00015988" "50" "377" "0" "377" "0" "c.377A>C" "r.(?)" "p.(Gln126Pro)" "" "0000795664" "00015988" "70" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Leu292*)" "" "0000802327" "00015988" "30" "188" "3" "188" "3" "c.188+3A>G" "r.spl?" "p.?" "" "0000802328" "00015988" "30" "234" "0" "234" "0" "c.234C>A" "r.(?)" "p.(Asn78Lys)" "" "0000802329" "00015988" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Pro142Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 227 "{{screeningid}}" "{{variantid}}" "0000132914" "0000222098" "0000132914" "0000222099" "0000295158" "0000651847" "0000311358" "0000686733" "0000311358" "0000686876" "0000311359" "0000686734" "0000311359" "0000686877" "0000311360" "0000686735" "0000311360" "0000686878" "0000311361" "0000686736" "0000311362" "0000686737" "0000311362" "0000686879" "0000311363" "0000686738" "0000311363" "0000686880" "0000311364" "0000686739" "0000311364" "0000686881" "0000311365" "0000686740" "0000311365" "0000686882" "0000311366" "0000686741" "0000311366" "0000686883" "0000311367" "0000686742" "0000311367" "0000686884" "0000311368" "0000686743" "0000311368" "0000686885" "0000311369" "0000686744" "0000311369" "0000686886" "0000311370" "0000686745" "0000311370" "0000686887" "0000311371" "0000686746" "0000311371" "0000686888" "0000311372" "0000686747" "0000311372" "0000686889" "0000311373" "0000686748" "0000311374" "0000686749" "0000311374" "0000686890" "0000311375" "0000686750" "0000311375" "0000686891" "0000311376" "0000686751" "0000311376" "0000686892" "0000311377" "0000686752" "0000311377" "0000686893" "0000311378" "0000686753" "0000311378" "0000686894" "0000311379" "0000686754" "0000311379" "0000686895" "0000311380" "0000686755" "0000311380" "0000686896" "0000311381" "0000686756" "0000311381" "0000686897" "0000311382" "0000686757" "0000311382" "0000686898" "0000311383" "0000686758" "0000311383" "0000686899" "0000311384" "0000686759" "0000311385" "0000686760" "0000311385" "0000686900" "0000311386" "0000686761" "0000311386" "0000686901" "0000311387" "0000686762" "0000311387" "0000686902" "0000311388" "0000686763" "0000311388" "0000686903" "0000311389" "0000686764" "0000311389" "0000686904" "0000311390" "0000686765" "0000311390" "0000686905" "0000311391" "0000686766" "0000311391" "0000686906" "0000311392" "0000686767" "0000311393" "0000686768" "0000311394" "0000686769" "0000311394" "0000686907" "0000311394" "0000686929" "0000311395" "0000686770" "0000311395" "0000686908" "0000311396" "0000686771" "0000311396" "0000686909" "0000311397" "0000686772" "0000311398" "0000686773" "0000311399" "0000686774" "0000311399" "0000686910" "0000311400" "0000686775" "0000311400" "0000686911" "0000311401" "0000686776" "0000311401" "0000686912" "0000311402" "0000686777" "0000311402" "0000686913" "0000311403" "0000686778" "0000311403" "0000686914" "0000311404" "0000686779" "0000311404" "0000686915" "0000311405" "0000686780" "0000311405" "0000686916" "0000311406" "0000686781" "0000311406" "0000686917" "0000311407" "0000686782" "0000311407" "0000686918" "0000311408" "0000686783" "0000311408" "0000686919" "0000311409" "0000686784" "0000311409" "0000686920" "0000311410" "0000686785" "0000311411" "0000686786" "0000311411" "0000686921" "0000311412" "0000686787" "0000311412" "0000686922" "0000311413" "0000686788" "0000311413" "0000686923" "0000311414" "0000686789" "0000311414" "0000686924" "0000311415" "0000686790" "0000311416" "0000686791" "0000311417" "0000686792" "0000311417" "0000686925" "0000311418" "0000686793" "0000311418" "0000686926" "0000311419" "0000686794" "0000311419" "0000686927" "0000311420" "0000686795" "0000311421" "0000686796" "0000311422" "0000686797" "0000311423" "0000686798" "0000311424" "0000686799" "0000311425" "0000686800" "0000311426" "0000686801" "0000311427" "0000686802" "0000311428" "0000686803" "0000311429" "0000686804" "0000311430" "0000686805" "0000311431" "0000686806" "0000311432" "0000686807" "0000311433" "0000686808" "0000311434" "0000686809" "0000311435" "0000686810" "0000311436" "0000686811" "0000311437" "0000686812" "0000311438" "0000686813" "0000311439" "0000686814" "0000311440" "0000686815" "0000311441" "0000686816" "0000311442" "0000686817" "0000311443" "0000686818" "0000311444" "0000686819" "0000311445" "0000686820" "0000311446" "0000686821" "0000311447" "0000686822" "0000311448" "0000686823" "0000311449" "0000686824" "0000311450" "0000686825" "0000311451" "0000686826" "0000311452" "0000686827" "0000311453" "0000686828" "0000311454" "0000686829" "0000311455" "0000686830" "0000311455" "0000686928" "0000311456" "0000686831" "0000311457" "0000686832" "0000311458" "0000686833" "0000311459" "0000686834" "0000311460" "0000686835" "0000311461" "0000686836" "0000311462" "0000686837" "0000311463" "0000686838" "0000311464" "0000686839" "0000311465" "0000686840" "0000311466" "0000686841" "0000311467" "0000686842" "0000311468" "0000686843" "0000311469" "0000686844" "0000311470" "0000686845" "0000311471" "0000686846" "0000311472" "0000686847" "0000311473" "0000686848" "0000311474" "0000686849" "0000311475" "0000686850" "0000311476" "0000686851" "0000311477" "0000686852" "0000311478" "0000686853" "0000311479" "0000686854" "0000311480" "0000686855" "0000311481" "0000686856" "0000311482" "0000686857" "0000311483" "0000686858" "0000311484" "0000686859" "0000311485" "0000686860" "0000311486" "0000686861" "0000311487" "0000686862" "0000311488" "0000686863" "0000311489" "0000686864" "0000311490" "0000686865" "0000311491" "0000686866" "0000311492" "0000686867" "0000311493" "0000686868" "0000311494" "0000686869" "0000311495" "0000686870" "0000311496" "0000686871" "0000311497" "0000686872" "0000311498" "0000686873" "0000311499" "0000686874" "0000311500" "0000686875" "0000311501" "0000686930" "0000311502" "0000686931" "0000311503" "0000686932" "0000311504" "0000686933" "0000311505" "0000686934" "0000311506" "0000686935" "0000311507" "0000686936" "0000311508" "0000686937" "0000311509" "0000686938" "0000311510" "0000686939" "0000311511" "0000686940" "0000311512" "0000686941" "0000311513" "0000686942" "0000311514" "0000686943" "0000311515" "0000686944" "0000311516" "0000686945" "0000311517" "0000686946" "0000311518" "0000686947" "0000311519" "0000686948" "0000311520" "0000686949" "0000311520" "0000686950" "0000311521" "0000686951" "0000311521" "0000686952" "0000325718" "0000710800" "0000328015" "0000711874" "0000360184" "0000759970" "0000382030" "0000795664"