### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A13) # 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}}" "SLC25A13" "solute carrier family 25 (aspartate/glutamate carrier), member 13" "7" "q21.3" "unknown" "NG_012247.1" "UD_132084525343" "" "https://www.LOVD.nl/SLC25A13" "" "1" "10983" "10165" "603859" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SLC25A13_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-20 00:00:00" "00006" "2017-08-04 21:38:59" "00006" "2026-02-16 11:33:17" ## 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}}" "00019195" "SLC25A13" "solute carrier family 25, member 13 (citrin), transcript variant 2" "002" "NM_014251.2" "" "NP_055066.1" "" "" "" "-191" "2999" "2028" "95951459" "95749532" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "02453" "CTLN2" "citrullinemia, type II (CTLN-2)" "AR" "603471" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02564" "NICCD" "citrullinemia, type II, neonatal-onset (neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD))" "AR" "605814" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC25A13" "02453" "SLC25A13" "02564" ## Individuals ## Do not remove or alter this header ## ## Count = 181 "{{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}}" "00112519" "" "" "" "8" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00112520" "" "" "" "57" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00112521" "" "" "" "5" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00112522" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0004}" "" "" "" "" "" "0" "" "" "" "" "00112523" "" "" "" "1" "" "00006" "{PMID:Tazawa 2001:11343052}" "" "" "" "" "" "0" "" "" "" "" "00112524" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0004}" "" "" "" "" "" "0" "" "" "" "" "00112525" "" "" "" "9" "" "00006" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0001}" "" "" "" "" "" "0" "" "" "" "" "00112526" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0001}" "" "" "" "" "" "0" "" "" "" "" "00112527" "" "" "" "1" "" "00006" "{PMID:Ohura 2001:11281457}, {OMIM603859:0001}" "" "" "" "Japan" "" "0" "" "" "" "" "00112528" "" "" "" "1" "" "00006" "{PMID:Tamamori 2002:12424587}, {OMIM603859:0001}" "" "" "" "Japan" "" "0" "" "" "" "" "00112529" "" "" "" "1" "" "02159" "" "" "F" "" "China" "" "0" "" "" "" "" "00112530" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00112531" "" "" "" "2" "" "00006" "{PMID:Yasuda 2000:11153906}" "2 patients" "M" "" "Japan" "" "0" "" "" "" "11153906-Pat" "00112532" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0002}" "" "" "" "" "" "0" "" "" "" "" "00112533" "" "" "" "1" "" "00006" "{PMID:Tamamori 2002:12424587}, {OMIM603859:0002}" "" "" "" "Japan" "" "0" "" "" "" "" "00112534" "" "" "" "2" "" "00006" "{PMID:Tomamosa 2001:11343053}, {OMIM603859:0002}" "" "" "" "Japan" "" "0" "" "" "" "" "00112535" "" "" "" "40" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00112536" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0003}" "" "" "" "" "" "0" "" "" "" "" "00112537" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00112538" "" "" "" "1" "" "00006" "{PMID:Fiermonte 2008:18367750}, {OMIM603859:0007}" "" "" "no" "Pakistan" "" "0" "" "" "" "" "00112539" "" "" "" "2" "" "00006" "{PMID:Fiermonte 2008:18367750}, {OMIM603859:0007}" "" "" "no" "Pakistan" "" "0" "" "" "" "" "00132621" "" "" "" "1" "" "00006" "{PMID:Takahashi 2006:16449956}" "" "M" "" "Japan" "" "0" "" "" "" "patient" "00132622" "" "" "" "1" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "?" "00132623" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "Pat758" "00132625" "" "" "" "1" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "China" "" "0" "" "" "" "?" "00132626" "" "" "" "11" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Japan" "" "0" "" "" "" "?" "00132627" "" "" "" "11" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Japan" "" "0" "" "" "" "?" "00132628" "" "" "" "1" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Korea" "" "0" "" "" "" "?" "00132629" "" "" "" "1" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Taiwan" "" "0" "" "" "" "?" "00132630" "" "" "" "1" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "?" "00132631" "" "" "" "1" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Japan" "" "0" "" "" "" "?" "00132632" "" "" "" "49" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "patients" "00132633" "" "" "" "34" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "patients" "00132634" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "Pat919" "00132635" "" "" "" "3" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Japan" "" "0" "" "" "" "?" "00132636" "" "" "" "1" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Japan" "" "0" "" "" "" "?" "00132637" "" "" "" "2" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Korea" "" "0" "" "" "" "?" "00132638" "" "" "" "1" "" "00006" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Japan" "" "0" "" "" "" "?" "00132639" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "Pat702" "00132640" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "PatP474" "00132642" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "F" "no" "Japan" "" "0" "" "partial liver transplantation from mother" "" "Pat557" "00132643" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "patients" "00132645" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "unaffected heterozygous carrier" "" "" "Japan" "" "0" "" "" "" "con" "00132646" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "Pat857" "00132647" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Pat709" "00132648" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "Pat730" "00132649" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat1037" "00132650" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "no" "Japan" "" "0" "" "" "" "Pat549" "00132651" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "Pat456" "00132652" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Pat1221" "00132740" "" "" "" "1" "" "00006" "{PMID:Yeh 2006:16737877}" "" "" "" "Taiwan" "" "0" "" "" "" "16737877-Pat1" "00132741" "" "" "" "1" "" "00006" "{PMID:Yeh 2006:16737877}" "" "" "" "Taiwan" "" "0" "" "" "" "16737877-Pat2" "00132742" "" "" "" "1" "" "00006" "{PMID:Yeh 2006:16737877}" "" "" "" "Taiwan" "" "0" "" "" "" "16737877-Pat3" "00132743" "" "" "" "1" "" "00006" "{PMID:Yeh 2006:16737877}" "" "" "" "Taiwan" "" "0" "" "" "" "16737877-Pat11" "00132744" "" "" "" "1" "" "00006" "{PMID:Yeh 2006:16737877}" "" "" "" "Taiwan" "" "0" "" "" "" "16737877-Pat4" "00132745" "" "" "" "1" "" "00006" "{PMID:Yeh 2006:16737877}" "" "" "" "Taiwan" "" "0" "" "" "" "16737877-Pat5" "00132746" "" "" "" "1" "" "00006" "{PMID:Ko 2007:17982687}" "" "M" "" "Korea" "" "0" "" "" "" "17982687-Pat1" "00132747" "" "" "" "1" "" "00006" "{PMID:Ko 2007:17982687}" "" "F" "" "Korea" "" "0" "" "" "" "17982687-Pat2" "00132748" "" "" "" "1" "" "00006" "{PMID:Ko 2007:17982687}" "" "M" "" "Korea" "" "0" "" "" "" "17982687-Pat3" "00132749" "" "" "" "1" "" "00006" "{PMID:Ko 2007:17982687}" "" "F" "" "Korea" "" "0" "" "" "" "17982687-Pat4" "00132750" "" "" "" "1" "" "00006" "{PMID:Ko 2007:17982687}" "" "M" "" "Korea" "" "0" "" "" "" "17982687-Pat5" "00132751" "" "" "" "1" "" "00006" "{PMID:Ko 2007:17982687}" "" "M" "" "Korea" "" "0" "" "" "" "17982687-Pat6" "00132753" "" "" "" "1" "" "00006" "{DOI:Hutchin 2006 P-4-23:10.1007/s10545-006-9995-6}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat" "00132754" "" "" "" "1" "" "00006" "{DOI:Sheng 2006 P-18-24:10.1007/s10545-006-9995-6}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat" "00132755" "" "" "" "1" "" "00006" "{DOI:Luder 2006 O-17-2:10.1007/s10545-006-9995-6}" "" "M" "" "Israel" "" "0" "" "" "moslem" "Pat1" "00132756" "" "" "" "1" "" "00006" "{DOI:Luder 2006 O-17-2:10.1007/s10545-006-9995-6}" "" "" "no" "Israel" "" "0" "" "" "mixed Moslem/Circassian" "Pat2" "00132757" "" "" "" "1" "" "00006" "{PMID:Takaya 2005:16311094}" "" "M" "" "Japan" "" "0" "" "" "" "16311094-Pat" "00132758" "" "" "" "1" "" "00006" "{PMID:Takaya 2005:16311094}" "" "F" "" "Japan" "" "0" "" "" "" "16311094-Pat2" "00132759" "" "" "" "1" "" "00006" "{PMID:Ben-Shalom 2002:12409267}" "" "M" "yes" "Israel" "" "0" "" "" "Moslem" "12409267-Pat" "00132760" "" "" "" "1" "" "00006" "{PMID:Lu 2005:16059747}" "" "" "" "Japan" "" "0" "" "" "" "16059747-Pat1" "00132761" "" "" "" "1" "" "00006" "{PMID:Lu 2005:16059747}" "" "" "no" "Japan" "" "0" "" "" "" "16059747-Pat" "00132762" "" "" "" "1" "" "00006" "{PMID:Tazawa 2004:15542392}" "" "F" "no" "Japan" "" "0" "" "" "" "15542392-Pat8" "00132763" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2002:11793471}" "" "" "" "Japan" "" "0" "" "" "" "11793471-Pat2" "00132764" "" "" "" "1" "" "00006" "{PMID:Yasuda 2000:11153906}" "" "F" "" "Japan" "" "0" "" "" "" "11153906-Pat" "00132766" "" "" "" "1" "" "00006" "{PMID:Yasuda 2000:11153906}" "" "M" "" "Japan" "" "0" "" "" "" "11153906-Pat" "00294520" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307650" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}" "" "M" "" "Japan" "" "0" "" "" "" "NCU14" "00307651" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}" "" "M" "" "Japan" "" "0" "" "" "" "NCU15" "00307652" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}" "" "M" "" "Japan" "" "0" "" "" "" "NCU16" "00307653" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}" "" "F" "" "Japan" "" "0" "" "" "" "NCU17" "00307661" "" "" "" "1" "" "00006" "{PMID:Togawa 2016:26858187}" "" "F" "" "Japan" "" "0" "" "" "" "NCU28" "00308715" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00431010" "" "" "" "247" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients" "" "no" "Viet Nam" "" "0" "" "" "" "" "00431011" "" "" "" "2" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients" "" "no" "Viet Nam" "" "0" "" "" "" "" "00431012" "" "" "" "4" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients" "" "no" "Viet Nam" "" "0" "" "" "" "" "00431013" "" "" "" "8" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients" "" "no" "Viet Nam" "" "0" "" "" "" "" "00431014" "" "" "" "17" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients" "" "no" "Viet Nam" "" "0" "" "" "" "" "00431015" "" "" "" "4" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients" "" "no" "Viet Nam" "" "0" "" "" "" "" "00431016" "" "" "" "1" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients" "" "no" "Viet Nam" "" "0" "" "" "" "" "00431017" "" "" "" "3" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients" "" "no" "Viet Nam" "" "0" "" "" "" "" "00431018" "" "" "" "3" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients" "" "no" "Viet Nam" "" "0" "" "" "" "" "00431019" "" "" "" "1" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients" "" "no" "Viet Nam" "" "0" "" "" "" "" "00431020" "" "" "" "1" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "Viet Nam" "" "0" "" "" "" "WBCT170102" "00431021" "" "" "" "1" "" "00006" "{PMID:Nguyen 2023:36599957}" "analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "Viet Nam" "" "0" "" "" "" "WBCT210304" "00431024" "" "" "" "1" "" "00006" "{PMID:Ben-Shalom 2002:12409267}" "" "M" "yes" "Israel" "" "0" "" "" "Moslem" "patient" "00431025" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431026" "" "" "" "15" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431027" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431028" "" "" "" "23" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431029" "" "" "" "44" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431030" "" "" "" "78" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431031" "" "" "" "28" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431032" "" "" "" "21" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431033" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431034" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431035" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431036" "" "" "" "4" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Viet Nam" "" "0" "" "" "Asia-E" "patients" "00431037" "" "" "" "76" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431038" "" "" "" "28" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431039" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431040" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431041" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431042" "" "" "" "6" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431043" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431044" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431045" "" "" "" "15" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431046" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431047" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431048" "" "" "" "9" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431049" "" "" "" "15" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431050" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431051" "" "" "" "4" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431052" "" "" "" "15" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431053" "" "" "" "26" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431054" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431055" "" "" "" "5" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431056" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431057" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431058" "" "" "" "3" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431059" "" "" "" "4" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431060" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431061" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431062" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431063" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431064" "" "" "" "5" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431065" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431066" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431067" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431068" "" "" "" "9" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431069" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431070" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431071" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431072" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431073" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "" "" "0" "" "" "" "patients" "00431074" "" "" "" "3" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431075" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431076" "" "" "" "4" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431077" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431078" "" "" "" "6" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431079" "" "" "" "4" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431080" "" "" "" "16" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431081" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431082" "" "" "" "4" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431083" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431084" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431085" "" "" "" "4" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431086" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "" "" "0" "" "" "" "patients" "00431087" "" "" "" "3" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431088" "" "" "" "2" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "" "patients" "00431089" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "China" "" "0" "" "" "Asia-E" "patients" "00431090" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "" "" "0" "" "" "Asia-E" "patients" "00431091" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Japan" "" "0" "" "" "Asia-E" "patients" "00431092" "" "" "" "1" "" "00006" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:10.1007/s10038-008-0282-2}" "" "" "" "Korea" "" "0" "" "" "Asia-E" "patients" "00431093" "" "" "" "1" "" "00006" "{PMID:Takaya 2005:16311094}" "" "M" "" "Japan" "" "0" "" "" "" "Pat1" "00431094" "" "" "" "1" "" "00006" "{PMID:Takaya 2005:16311094}" "" "F" "" "Japan" "" "0" "" "" "" "Pat2" "00452088" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35309121}" "" "M" "" "China" "" "0" "" "" "" "Pat1" "00452089" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35309121}" "" "M" "" "China" "" "0" "" "" "" "Pat2" "00452090" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35309121}" "" "M" "" "China" "" "0" "" "" "" "Pat3" "00452091" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35309121}" "" "F" "" "China" "" "0" "" "" "" "Pat4" "00452092" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35309121}" "" "F" "" "China" "" "0" "" "" "" "Pat5" "00452093" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35309121}" "" "M" "" "China" "" "0" "" "" "" "Pat6" "00452094" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35309121}" "" "M" "" "China" "" "0" "" "" "" "Pat7" "00452095" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35309121}" "" "M" "" "China" "" "0" "" "" "" "Pat8" "00452211" "" "" "" "4" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452212" "" "" "" "3" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452213" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452214" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452215" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00462477" "" "" "" "1" "" "04794" "" "" "" "" "" "" "" "" "" "" "" "00468513" "" "" "" "1" "" "00006" "{PMID:Wang 2024:38184101}" "patient, no family history" "F" "" "China" "" "0" "" "" "" "Pat72" "00468514" "" "" "" "1" "" "00006" "{PMID:Wang 2024:38184101}" "patient, no family history" "F" "" "China" "" "0" "" "" "" "Pat73" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 181 "{{individualid}}" "{{diseaseid}}" "00112519" "00198" "00112520" "00198" "00112521" "00198" "00112522" "02453" "00112523" "02564" "00112524" "02453" "00112525" "02453" "00112526" "02453" "00112527" "02564" "00112528" "02564" "00112529" "02453" "00112530" "00198" "00112531" "02453" "00112532" "02453" "00112533" "02564" "00112534" "02564" "00112535" "00198" "00112536" "02453" "00112537" "00198" "00112538" "02453" "00112539" "00198" "00132621" "02453" "00132622" "02453" "00132623" "02564" "00132625" "02453" "00132626" "02453" "00132627" "02453" "00132628" "02453" "00132629" "02453" "00132630" "02453" "00132631" "02453" "00132632" "02453" "00132633" "02453" "00132634" "02453" "00132635" "02453" "00132636" "02453" "00132637" "02453" "00132638" "02453" "00132639" "02453" "00132640" "02453" "00132642" "02453" "00132643" "02453" "00132645" "00000" "00132646" "02453" "00132647" "02564" "00132648" "02564" "00132649" "02564" "00132650" "02453" "00132651" "02453" "00132652" "02564" "00132740" "02564" "00132741" "02564" "00132742" "02564" "00132743" "02564" "00132744" "02564" "00132745" "02564" "00132746" "02564" "00132747" "02564" "00132748" "02564" "00132749" "02564" "00132750" "02453" "00132751" "02453" "00132753" "02564" "00132754" "02564" "00132755" "02564" "00132756" "02564" "00132757" "02564" "00132758" "02564" "00132759" "02564" "00132760" "02453" "00132761" "02453" "00132762" "02564" "00132763" "02564" "00132764" "02453" "00132766" "02453" "00294520" "00198" "00307650" "00198" "00307651" "00198" "00307652" "00198" "00307653" "00198" "00307661" "00198" "00308715" "00000" "00431010" "00198" "00431011" "00198" "00431012" "00198" "00431013" "00198" "00431014" "00198" "00431015" "00198" "00431016" "00198" "00431017" "00198" "00431018" "00198" "00431019" "00198" "00431020" "00198" "00431021" "00198" "00431024" "00198" "00431025" "02453" "00431026" "02564" "00431027" "02453" "00431028" "02564" "00431029" "02453" "00431030" "02564" "00431031" "02453" "00431032" "02564" "00431033" "02453" "00431034" "02564" "00431035" "02564" "00431036" "02564" "00431037" "02564" "00431038" "02564" "00431039" "02453" "00431040" "02564" "00431041" "02453" "00431042" "02564" "00431043" "02564" "00431044" "02453" "00431045" "02564" "00431046" "02453" "00431047" "02564" "00431048" "02564" "00431049" "02453" "00431050" "02564" "00431051" "02453" "00431052" "02453" "00431053" "02564" "00431054" "02453" "00431055" "02564" "00431056" "02564" "00431057" "02453" "00431058" "02453" "00431059" "02564" "00431060" "02564" "00431061" "02453" "00431062" "02564" "00431063" "02453" "00431064" "02564" "00431065" "02453" "00431066" "02453" "00431067" "02564" "00431068" "02564" "00431069" "02564" "00431070" "02453" "00431071" "02564" "00431072" "02453" "00431073" "02564" "00431074" "02564" "00431075" "02453" "00431076" "02564" "00431077" "02453" "00431078" "02564" "00431079" "02453" "00431080" "02564" "00431081" "02453" "00431082" "02564" "00431083" "02564" "00431084" "02564" "00431085" "02564" "00431086" "02564" "00431087" "02453" "00431088" "02564" "00431089" "02564" "00431090" "02564" "00431091" "02564" "00431092" "02564" "00431093" "00198" "00431094" "00198" "00452088" "00198" "00452089" "00198" "00452090" "00198" "00452091" "00198" "00452092" "00198" "00452093" "00198" "00452094" "00198" "00452095" "00198" "00452211" "00198" "00452212" "00198" "00452213" "00198" "00452214" "00198" "00452215" "00198" "00462477" "02453" "00468513" "00296" "00468514" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00296, 02453, 02564 ## Count = 178 "{{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}}" "0000088083" "00198" "00112519" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088084" "00198" "00112520" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088085" "00198" "00112521" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088086" "02453" "00112522" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088087" "02564" "00112523" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088088" "02453" "00112524" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088089" "02453" "00112525" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088090" "02453" "00112526" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088091" "02564" "00112527" "00006" "Unknown" "" "favorable clinical course, all biochemical abnormalities normalized at 12m" "" "" "" "" "" "" "" "" "" "" "" "0000088092" "02564" "00112528" "00006" "Unknown" "" "progressive, liver transplant at 10m" "" "" "" "" "" "" "" "" "" "" "" "0000088093" "02453" "00112529" "02159" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088094" "00198" "00112530" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088095" "02453" "00112531" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088096" "02453" "00112532" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088097" "02564" "00112533" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088098" "02564" "00112534" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088099" "00198" "00112535" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088100" "02453" "00112536" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088101" "00198" "00112537" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088102" "02453" "00112538" "00006" "Isolated (sporadic)" "" "episodic confusion, elevated plasma ammonia/arginine levels; fatal hyperammonemic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000088103" "00198" "00112539" "00006" "Isolated (sporadic)" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000105386" "02453" "00132621" "00006" "Familial, autosomal recessive" "34y" "see paper" "" "" "" "" "" "" "" "" "CTLN2" "" "" "0000105387" "02453" "00132622" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105390" "02453" "00132625" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105391" "02453" "00132626" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105392" "02453" "00132627" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105393" "02453" "00132628" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105394" "02453" "00132629" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105395" "02453" "00132630" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105396" "02453" "00132631" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105397" "02453" "00132632" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105398" "02453" "00132633" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105399" "02453" "00132634" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105400" "02453" "00132635" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105401" "02453" "00132636" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105402" "02453" "00132637" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105403" "02453" "00132638" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105404" "02453" "00132639" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105405" "02453" "00132640" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "" "" "0000105407" "02453" "00132642" "00006" "Familial, autosomal recessive" "16y" "diagnosed as CTLN2 by clinical and biochemical studies" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105408" "02453" "00132643" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrullinemia type II" "" "" "0000105410" "02453" "00132646" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105411" "02564" "00132647" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105412" "02564" "00132623" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105413" "02564" "00132648" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105414" "02564" "00132649" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105416" "02453" "00132650" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105417" "02453" "00132651" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105418" "02564" "00132652" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105510" "02564" "00132740" "00006" "Familial, autosomal recessive" "00y00m94d" "increased Citr, Met, Orn" "" "" "" "" "" "" "" "" "" "" "" "0000105511" "02564" "00132741" "00006" "Familial, autosomal recessive" "00y07m" "increased level Met, Tyr, Pro" "" "" "" "" "" "" "" "" "" "" "" "0000105512" "02564" "00132742" "00006" "Familial, autosomal recessive" "00y05m10d" "normal amino acid levels" "" "" "" "" "" "" "" "" "" "" "" "0000105513" "02564" "00132743" "00006" "Familial, autosomal recessive" "00y00m51d" "increased level Citr, Met, Thr, Tyr, Phe, Lys, Arg" "" "" "" "" "" "" "" "" "" "" "" "0000105514" "02564" "00132744" "00006" "Familial, autosomal recessive" "00y00m53d" "increased level Met, Tyr" "" "" "" "" "" "" "" "" "" "" "" "0000105515" "02564" "00132745" "00006" "Familial, autosomal recessive" "00y00m64d" "increased level Citr" "" "" "" "" "" "" "" "" "" "" "" "0000105516" "02564" "00132746" "00006" "Familial, autosomal recessive" "<00y01m" "hyperammonemia, hypercitrullinemia, galactosemia" "" "00y05m" "" "" "" "" "" "" "" "" "" "0000105517" "02564" "00132747" "00006" "Familial, autosomal recessive" "" "Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia" "<00y01m" "00y09m" "" "" "" "" "" "" "" "" "" "0000105518" "02564" "00132748" "00006" "Familial, autosomal recessive" "" "Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia" "<00y01m" "00y06m" "" "" "" "" "" "" "" "" "" "0000105519" "02564" "00132749" "00006" "Familial, autosomal recessive" "" "Hyperammonemia, hypercitrullinemia" "00y03m" "00y05m" "cholestatic jaundice, gray-colored stool" "" "" "" "" "" "" "" "" "0000105520" "02453" "00132750" "00006" "Familial, autosomal recessive" "" "hyperammonemia, hypercitrullinemia" "28y" "" "loss of consciousness, vomiting, seizures" "" "" "" "" "" "" "" "" "0000105521" "02453" "00132751" "00006" "Familial, autosomal recessive" "" "hyperammonemia, hypercitrullinemia" "37y" "" "altered consciousness, lethargy" "" "" "" "" "" "" "" "" "0000105523" "02564" "00132753" "00006" "Familial, autosomal recessive" "" "see paper; ..." "00y00m02d" "" "failed to thrive" "" "" "" "" "" "" "" "" "0000105524" "02564" "00132754" "00006" "Familial, autosomal recessive" "" "see paper; ..." "00y01m" "" "failure to thrive, jaundice" "" "" "" "" "" "" "" "" "0000105525" "02564" "00132755" "00006" "Familial, autosomal recessive" "04y" "severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 4y-healthy with no treatment" "00y00m40d" "" "liver disease" "" "" "" "" "" "" "" "" "0000105526" "02564" "00132756" "00006" "Familial, autosomal recessive" "02y" "severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 2y-healthy with no treatment" "00y00m42d" "" "liver disease" "" "" "" "" "" "" "" "" "0000105527" "02564" "00132757" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000105528" "02564" "00132758" "00006" "Familial, autosomal recessive" "" "see paper; ..." "00y00m65d" "" "hyperbilirubinemia" "" "" "" "" "" "" "" "" "0000105529" "02564" "00132759" "00006" "Familial, autosomal recessive" "" "see paper; ..., prolonged icterus, hepatocellular dysfunction, increased citrulline and dibasic\r\namino acids in plasma and urine" "00y00m70d" "" "persistent jaundice" "" "" "" "" "" "" "" "" "0000105530" "02453" "00132760" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105531" "02453" "00132761" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105532" "02564" "00132762" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "00y05m18d" "" "" "" "" "" "" "" "" "" "0000105533" "02564" "00132763" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105534" "02453" "00132764" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105536" "02453" "00132766" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233215" "00198" "00307650" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal intrahepatic cholestasis caused by citrin deficiency" "" "0000233216" "00198" "00307651" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal intrahepatic cholestasis caused by citrin deficiency" "" "0000233217" "00198" "00307652" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal intrahepatic cholestasis caused by citrin deficiency" "" "0000233218" "00198" "00307653" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal intrahepatic cholestasis caused by citrin deficiency" "" "0000233226" "00198" "00307661" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000321619" "00198" "00431010" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321620" "00198" "00431011" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321621" "00198" "00431012" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321622" "00198" "00431013" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321623" "00198" "00431014" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321624" "00198" "00431015" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321625" "00198" "00431016" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321626" "00198" "00431017" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321627" "00198" "00431018" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321628" "00198" "00431019" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321629" "00198" "00431020" "00006" "Familial, autosomal recessive" "1m15d" "see paper" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321630" "00198" "00431021" "00006" "Familial, autosomal recessive" "27d" "see paper" "" "" "" "" "" "" "" "" "citrin deficiency" "neonatal hepatitis or cholestasis" "" "0000321633" "00198" "00431024" "00006" "Familial, autosomal recessive" "00y00m70d" "see paper" "" "" "" "" "" "" "" "" "NICCD" "persistent jaundice" "" "0000321634" "02453" "00431025" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321635" "02564" "00431026" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321636" "02453" "00431027" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321637" "02564" "00431028" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321638" "02453" "00431029" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321639" "02564" "00431030" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321640" "02453" "00431031" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321641" "02564" "00431032" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321642" "02453" "00431033" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321643" "02564" "00431034" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321644" "02564" "00431035" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321645" "02564" "00431036" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321646" "02564" "00431037" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321647" "02564" "00431038" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321648" "02453" "00431039" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321649" "02564" "00431040" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321650" "02453" "00431041" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321651" "02564" "00431042" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321652" "02564" "00431043" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321653" "02453" "00431044" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321654" "02564" "00431045" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321655" "02453" "00431046" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321656" "02564" "00431047" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321657" "02564" "00431048" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321658" "02453" "00431049" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321659" "02564" "00431050" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321660" "02453" "00431051" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321661" "02453" "00431052" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321662" "02564" "00431053" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321663" "02453" "00431054" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321664" "02564" "00431055" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321665" "02564" "00431056" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321666" "02453" "00431057" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321667" "02453" "00431058" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321668" "02564" "00431059" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321669" "02564" "00431060" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321670" "02453" "00431061" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321671" "02564" "00431062" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321672" "02453" "00431063" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321673" "02564" "00431064" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321674" "02453" "00431065" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321675" "02453" "00431066" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321676" "02564" "00431067" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321677" "02564" "00431068" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321678" "02564" "00431069" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321679" "02453" "00431070" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321680" "02564" "00431071" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321681" "02453" "00431072" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321682" "02564" "00431073" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321683" "02564" "00431074" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321684" "02453" "00431075" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321685" "02564" "00431076" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321686" "02453" "00431077" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321687" "02564" "00431078" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321688" "02453" "00431079" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321689" "02564" "00431080" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321690" "02453" "00431081" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321691" "02564" "00431082" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321692" "02564" "00431083" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321693" "02564" "00431084" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321694" "02564" "00431085" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321695" "02564" "00431086" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321696" "02453" "00431087" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTLN2" "adult-onsettype II citrullinemia" "" "0000321697" "02564" "00431088" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321698" "02564" "00431089" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321699" "02564" "00431090" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321700" "02564" "00431091" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321701" "02564" "00431092" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NICCD" "neonatal intrahepatic cholestatichepatitis" "" "0000321702" "00198" "00431093" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "neonatal intrahepatic cholestasis" "" "0000321703" "00198" "00431094" "00006" "Familial, autosomal recessive" "" "see paper" "00y00m65d" "" "" "" "" "" "" "" "NICCD" "hyperbilirubinemia" "" "0000340692" "00198" "00452088" "00006" "Familial, autosomal recessive" "" "see paper; ..." "18m" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340693" "00198" "00452089" "00006" "Familial, autosomal recessive" "" "see paper; ..." "1m" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340694" "00198" "00452090" "00006" "Familial, autosomal recessive" "" "see paper; ..." "12m" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340695" "00198" "00452091" "00006" "Familial, autosomal recessive" "" "see paper; ..." "2m" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340696" "00198" "00452092" "00006" "Familial, autosomal recessive" "" "see paper; ..." "1m" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340697" "00198" "00452093" "00006" "Familial, autosomal recessive" "" "see paper; ..." "3m" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340698" "00198" "00452094" "00006" "Familial, autosomal recessive" "" "see paper; ..." "2m" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340699" "00198" "00452095" "00006" "Unknown" "" "see paper; ..." "1m" "" "" "" "" "" "" "" "" "citrullinemia" "" "0000340814" "00198" "00452211" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340815" "00198" "00452212" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340816" "00198" "00452213" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340817" "00198" "00452214" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000340818" "00198" "00452215" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CTLN2" "citrullinemia" "" "0000349961" "02453" "00462477" "04794" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000353665" "00296" "00468513" "00006" "Familial, autosomal recessive" "" "posterior subcapsular cataract; symmetrical opacities; elevated plasma citrulline, hyperammonemia, growth delay" "6y" "" "" "" "" "" "" "" "" "bilateral cataract, citrullinemia" "" "0000353666" "00296" "00468514" "00006" "Familial, autosomal recessive" "" "nuclear cataract, zonular cataract, sutural cataract; symmetrical opacities; elevated plasma citrulline, hyperammonemia, growth delay" "4y" "" "" "" "" "" "" "" "" "bilateral cataract, citrullinemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 181 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000112977" "00112519" "1" "00006" "00006" "2009-03-22 13:33:21" "" "" "MCA;SEQ" "DNA" "" "" "0000112978" "00112520" "1" "00006" "00006" "2009-03-22 13:33:21" "" "" "MCA;SEQ" "DNA" "" "" "0000112979" "00112521" "1" "00006" "00006" "2009-03-22 13:33:21" "" "" "MCA;SEQ" "DNA" "" "" "0000112980" "00112522" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:57:26" "SEQ" "DNA" "" "" "0000112981" "00112523" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:58:09" "SEQ" "DNA" "" "" "0000112982" "00112524" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:57:26" "SEQ" "DNA" "" "" "0000112983" "00112525" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:57:26" "SEQ" "DNA" "" "" "0000112984" "00112526" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:57:26" "SEQ" "DNA" "" "" "0000112985" "00112527" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:58:09" "SEQ" "DNA" "" "" "0000112986" "00112528" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:58:09" "SEQ" "DNA" "" "" "0000112987" "00112529" "1" "02159" "02159" "2014-10-29 06:16:29" "00006" "2014-10-31 19:10:39" "SEQ-NG-I" "DNA" "" "" "0000112988" "00112530" "1" "00006" "00006" "2009-03-22 13:33:21" "" "" "MCA;SEQ" "DNA" "" "" "0000112989" "00112531" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2017-11-04 15:46:24" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000112990" "00112532" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:57:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000112991" "00112533" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:58:09" "SEQ" "DNA" "" "" "0000112992" "00112534" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:58:09" "SEQ" "DNA" "" "" "0000112993" "00112535" "1" "00006" "00006" "2009-03-22 13:33:21" "" "" "MCA;SEQ" "DNA" "" "" "0000112994" "00112536" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:57:26" "SEQ" "DNA" "" "" "0000112995" "00112537" "1" "00006" "00006" "2009-03-22 13:33:21" "" "" "MCA;SEQ" "DNA" "" "" "0000112996" "00112538" "1" "00006" "00006" "2009-03-22 13:33:21" "00006" "2011-01-24 22:57:26" "SEQ" "DNA" "" "" "0000112997" "00112539" "1" "00006" "00006" "2009-03-22 13:33:21" "" "" "SEQ" "DNA" "" "" "0000133455" "00132621" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133456" "00132622" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133457" "00132623" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133459" "00132625" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133460" "00132626" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133461" "00132627" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133462" "00132628" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133463" "00132629" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133464" "00132630" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133465" "00132631" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133466" "00132632" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133467" "00132633" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133468" "00132634" "1" "00006" "00006" "2017-11-01 19:04:45" "00006" "2017-11-01 21:23:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133469" "00132635" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133470" "00132636" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133471" "00132637" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133472" "00132638" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133473" "00132639" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133474" "00132640" "1" "00006" "00006" "2017-11-01 19:04:45" "00006" "2017-11-01 20:59:37" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133476" "00132642" "1" "00006" "00006" "2017-11-01 19:04:45" "00006" "2017-11-01 19:32:21" "PCRlr;RT-PCR;SEQ" "DNA;RNA" "" "" "0000133477" "00132643" "1" "00006" "00006" "2017-11-01 19:04:45" "" "" "SEQ" "DNA" "" "" "0000133479" "00132645" "1" "00006" "00006" "2017-11-01 20:35:23" "" "" "PCRlr" "DNA" "" "" "0000133480" "00132646" "1" "00006" "00006" "2017-11-01 20:47:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133481" "00132647" "1" "00006" "00006" "2017-11-01 21:10:03" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133482" "00132648" "1" "00006" "00006" "2017-11-01 21:30:19" "" "" "SEQ" "DNA" "" "" "0000133483" "00132649" "1" "00006" "00006" "2017-11-01 21:34:31" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133484" "00132650" "1" "00006" "00006" "2017-11-01 21:38:10" "" "" "SEQ" "DNA" "" "" "0000133485" "00132651" "1" "00006" "00006" "2017-11-01 21:47:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133486" "00132652" "1" "00006" "00006" "2017-11-01 22:20:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133575" "00132740" "1" "00006" "00006" "2017-11-03 17:12:09" "" "" "SEQ" "DNA" "" "" "0000133576" "00132741" "1" "00006" "00006" "2017-11-03 17:21:06" "" "" "SEQ" "DNA" "" "" "0000133577" "00132742" "1" "00006" "00006" "2017-11-03 17:31:01" "" "" "SEQ" "DNA" "" "" "0000133578" "00132743" "1" "00006" "00006" "2017-11-03 17:34:07" "" "" "SEQ" "DNA" "" "" "0000133579" "00132744" "1" "00006" "00006" "2017-11-03 17:36:13" "" "" "SEQ" "DNA" "" "" "0000133580" "00132745" "1" "00006" "00006" "2017-11-03 17:38:51" "" "" "SEQ" "DNA" "" "" "0000133581" "00132746" "1" "00006" "00006" "2017-11-03 17:49:33" "" "" "SEQ" "DNA" "" "" "0000133582" "00132747" "1" "00006" "00006" "2017-11-03 17:53:48" "" "" "SEQ" "DNA" "" "" "0000133583" "00132748" "1" "00006" "00006" "2017-11-03 18:10:24" "" "" "SEQ" "DNA" "" "" "0000133584" "00132749" "1" "00006" "00006" "2017-11-03 18:14:15" "" "" "SEQ" "DNA" "" "" "0000133585" "00132750" "1" "00006" "00006" "2017-11-03 18:18:24" "" "" "SEQ" "DNA" "" "" "0000133586" "00132751" "1" "00006" "00006" "2017-11-03 18:22:29" "" "" "SEQ" "DNA" "" "" "0000133588" "00132753" "1" "00006" "00006" "2017-11-04 13:43:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133589" "00132754" "1" "00006" "00006" "2017-11-04 13:51:51" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133590" "00132755" "1" "00006" "00006" "2017-11-04 14:03:11" "" "" "SEQ" "DNA" "" "" "0000133591" "00132756" "1" "00006" "00006" "2017-11-04 14:08:24" "" "" "SEQ" "DNA" "" "" "0000133592" "00132757" "1" "00006" "00006" "2017-11-04 14:15:17" "" "" "PCR;SEQ" "DNA" "" "" "0000133593" "00132758" "1" "00006" "00006" "2017-11-04 14:24:33" "" "" "PCR;SEQ" "DNA" "" "" "0000133594" "00132759" "1" "00006" "00006" "2017-11-04 14:30:30" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000133595" "00132760" "1" "00006" "00006" "2017-11-04 14:49:58" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133596" "00132761" "1" "00006" "00006" "2017-11-04 14:58:25" "" "" "SEQ" "DNA" "" "" "0000133597" "00132762" "1" "00006" "00006" "2017-11-04 15:11:33" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133598" "00132763" "1" "00006" "00006" "2017-11-04 15:22:10" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133599" "00132764" "1" "00006" "00006" "2017-11-04 15:30:31" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133601" "00132766" "1" "00006" "00006" "2017-11-04 15:42:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000295688" "00294520" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308791" "00307650" "1" "00006" "00006" "2020-08-17 14:56:28" "" "" "SEQ" "DNA" "" "" "0000308792" "00307651" "1" "00006" "00006" "2020-08-17 14:56:28" "" "" "SEQ" "DNA" "" "" "0000308793" "00307652" "1" "00006" "00006" "2020-08-17 14:56:28" "" "" "SEQ" "DNA" "" "" "0000308794" "00307653" "1" "00006" "00006" "2020-08-17 14:56:28" "" "" "SEQ" "DNA" "" "" "0000308802" "00307661" "1" "00006" "00006" "2020-08-17 14:56:28" "00006" "2020-08-17 15:00:02" "SEQ" "DNA" "" "" "0000309860" "00308715" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000432421" "00431010" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432422" "00431011" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432423" "00431012" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432424" "00431013" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432425" "00431014" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432426" "00431015" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432427" "00431016" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432428" "00431017" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432429" "00431018" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432430" "00431019" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432431" "00431020" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432432" "00431021" "1" "00006" "00006" "2023-01-26 08:49:08" "" "" "PCR;SEQ" "DNA" "" "" "0000432435" "00431024" "1" "00006" "00006" "2023-01-27 12:45:22" "" "" "PCR;RT-PCR;SEQ" "DNA" "" "" "0000432436" "00431025" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432437" "00431026" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432438" "00431027" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432439" "00431028" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432440" "00431029" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432441" "00431030" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432442" "00431031" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432443" "00431032" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432444" "00431033" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432445" "00431034" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432446" "00431035" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432447" "00431036" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432448" "00431037" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432449" "00431038" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432450" "00431039" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432451" "00431040" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432452" "00431041" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432453" "00431042" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432454" "00431043" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432455" "00431044" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432456" "00431045" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432457" "00431046" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432458" "00431047" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432459" "00431048" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432460" "00431049" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432461" "00431050" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432462" "00431051" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432463" "00431052" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432464" "00431053" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432465" "00431054" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432466" "00431055" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432467" "00431056" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432468" "00431057" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432469" "00431058" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432470" "00431059" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432471" "00431060" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432472" "00431061" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432473" "00431062" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432474" "00431063" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432475" "00431064" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432476" "00431065" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432477" "00431066" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432478" "00431067" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432479" "00431068" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432480" "00431069" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432481" "00431070" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432482" "00431071" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432483" "00431072" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432484" "00431073" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432485" "00431074" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432486" "00431075" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432487" "00431076" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432488" "00431077" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432489" "00431078" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432490" "00431079" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432491" "00431080" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432492" "00431081" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432493" "00431082" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432494" "00431083" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432495" "00431084" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432496" "00431085" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432497" "00431086" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432498" "00431087" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432499" "00431088" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432500" "00431089" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432501" "00431090" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432502" "00431091" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432503" "00431092" "1" "00006" "00006" "2023-01-27 13:45:54" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000432504" "00431093" "1" "00006" "00006" "2023-01-27 15:13:22" "" "" "PCR;SEQ" "DNA" "" "" "0000432505" "00431094" "1" "00006" "00006" "2023-01-27 15:19:47" "" "" "PCR;SEQ" "DNA" "" "" "0000453690" "00452088" "1" "00006" "00006" "2024-07-09 16:50:43" "" "" "SEQ" "DNA" "" "" "0000453691" "00452089" "1" "00006" "00006" "2024-07-09 16:50:43" "" "" "SEQ" "DNA" "" "" "0000453692" "00452090" "1" "00006" "00006" "2024-07-09 16:50:43" "" "" "SEQ" "DNA" "" "" "0000453693" "00452091" "1" "00006" "00006" "2024-07-09 16:50:43" "" "" "SEQ" "DNA" "" "" "0000453694" "00452092" "1" "00006" "00006" "2024-07-09 16:50:43" "" "" "SEQ" "DNA" "" "" "0000453695" "00452093" "1" "00006" "00006" "2024-07-09 16:50:43" "" "" "SEQ" "DNA" "" "" "0000453696" "00452094" "1" "00006" "00006" "2024-07-09 16:50:43" "" "" "SEQ" "DNA" "" "" "0000453697" "00452095" "1" "00006" "00006" "2024-07-09 16:50:43" "" "" "SEQ" "DNA" "" "" "0000453813" "00452211" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453814" "00452212" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453815" "00452213" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453816" "00452214" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453817" "00452215" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000464110" "00462477" "1" "04794" "04794" "2025-02-11 07:48:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000470180" "00468513" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470181" "00468514" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 178 "{{screeningid}}" "{{geneid}}" "0000112977" "SLC25A13" "0000112978" "SLC25A13" "0000112979" "SLC25A13" "0000112980" "SLC25A13" "0000112981" "SLC25A13" "0000112982" "SLC25A13" "0000112983" "SLC25A13" "0000112984" "SLC25A13" "0000112985" "SLC25A13" "0000112986" "SLC25A13" "0000112987" "SLC25A13" "0000112988" "SLC25A13" "0000112989" "SLC25A13" "0000112990" "SLC25A13" "0000112991" "SLC25A13" "0000112992" "SLC25A13" "0000112993" "SLC25A13" "0000112994" "SLC25A13" "0000112995" "SLC25A13" "0000112996" "SLC25A13" "0000112997" "SLC25A13" "0000133455" "SLC25A13" "0000133456" "SLC25A13" "0000133457" "SLC25A13" "0000133459" "SLC25A13" "0000133460" "SLC25A13" "0000133461" "SLC25A13" "0000133462" "SLC25A13" "0000133463" "SLC25A13" "0000133464" "SLC25A13" "0000133465" "SLC25A13" "0000133466" "SLC25A13" "0000133467" "SLC25A13" "0000133468" "SLC25A13" "0000133469" "SLC25A13" "0000133470" "SLC25A13" "0000133471" "SLC25A13" "0000133472" "SLC25A13" "0000133473" "SLC25A13" "0000133474" "SLC25A13" "0000133476" "SLC25A13" "0000133477" "SLC25A13" "0000133479" "SLC25A13" "0000133480" "SLC25A13" "0000133481" "SLC25A13" "0000133482" "SLC25A13" "0000133483" "SLC25A13" "0000133484" "SLC25A13" "0000133485" "SLC25A13" "0000133486" "SLC25A13" "0000133575" "SLC25A13" "0000133576" "SLC25A13" "0000133577" "SLC25A13" "0000133578" "SLC25A13" "0000133579" "SLC25A13" "0000133580" "SLC25A13" "0000133581" "SLC25A13" "0000133582" "SLC25A13" "0000133583" "SLC25A13" "0000133584" "SLC25A13" "0000133585" "SLC25A13" "0000133586" "SLC25A13" "0000133588" "SLC25A13" "0000133589" "SLC25A13" "0000133590" "SLC25A13" "0000133591" "SLC25A13" "0000133592" "SLC25A13" "0000133593" "SLC25A13" "0000133594" "SLC25A13" "0000133595" "SLC25A13" "0000133596" "SLC25A13" "0000133597" "SLC25A13" "0000133598" "SLC25A13" "0000133599" "SLC25A13" "0000133601" "SLC25A13" "0000308791" "SLC25A13" "0000308792" "SLC25A13" "0000308793" "SLC25A13" "0000308794" "SLC25A13" "0000308802" "SLC25A13" "0000309860" "SLC25A13" "0000432421" "SLC25A13" "0000432422" "SLC25A13" "0000432423" "SLC25A13" "0000432424" "SLC25A13" "0000432425" "SLC25A13" "0000432426" "SLC25A13" "0000432427" "SLC25A13" "0000432428" "SLC25A13" "0000432429" "SLC25A13" "0000432430" "SLC25A13" "0000432431" "SLC25A13" "0000432432" "SLC25A13" "0000432435" "SLC25A13" "0000432436" "SLC25A13" "0000432437" "SLC25A13" "0000432438" "SLC25A13" "0000432439" "SLC25A13" "0000432440" "SLC25A13" "0000432441" "SLC25A13" "0000432442" "SLC25A13" "0000432443" "SLC25A13" "0000432444" "SLC25A13" "0000432445" "SLC25A13" "0000432446" "SLC25A13" "0000432447" "SLC25A13" "0000432448" "SLC25A13" "0000432449" "SLC25A13" "0000432450" "SLC25A13" "0000432451" "SLC25A13" "0000432452" "SLC25A13" "0000432453" "SLC25A13" "0000432454" "SLC25A13" "0000432455" "SLC25A13" "0000432456" "SLC25A13" "0000432457" "SLC25A13" "0000432458" "SLC25A13" "0000432459" "SLC25A13" "0000432460" "SLC25A13" "0000432461" "SLC25A13" "0000432462" "SLC25A13" "0000432463" "SLC25A13" "0000432464" "SLC25A13" "0000432465" "SLC25A13" "0000432466" "SLC25A13" "0000432467" "SLC25A13" "0000432468" "SLC25A13" "0000432469" "SLC25A13" "0000432470" "SLC25A13" "0000432471" "SLC25A13" "0000432472" "SLC25A13" "0000432473" "SLC25A13" "0000432474" "SLC25A13" "0000432475" "SLC25A13" "0000432476" "SLC25A13" "0000432477" "SLC25A13" "0000432478" "SLC25A13" "0000432479" "SLC25A13" "0000432480" "SLC25A13" "0000432481" "SLC25A13" "0000432482" "SLC25A13" "0000432483" "SLC25A13" "0000432484" "SLC25A13" "0000432485" "SLC25A13" "0000432486" "SLC25A13" "0000432487" "SLC25A13" "0000432488" "SLC25A13" "0000432489" "SLC25A13" "0000432490" "SLC25A13" "0000432491" "SLC25A13" "0000432492" "SLC25A13" "0000432493" "SLC25A13" "0000432494" "SLC25A13" "0000432495" "SLC25A13" "0000432496" "SLC25A13" "0000432497" "SLC25A13" "0000432498" "SLC25A13" "0000432499" "SLC25A13" "0000432500" "SLC25A13" "0000432501" "SLC25A13" "0000432502" "SLC25A13" "0000432503" "SLC25A13" "0000432504" "SLC25A13" "0000432505" "SLC25A13" "0000453690" "SLC25A13" "0000453691" "SLC25A13" "0000453692" "SLC25A13" "0000453693" "SLC25A13" "0000453694" "SLC25A13" "0000453695" "SLC25A13" "0000453696" "SLC25A13" "0000453697" "ASS1" "0000453697" "SLC25A13" "0000453813" "SLC25A13" "0000453814" "SLC25A13" "0000453815" "SLC25A13" "0000453816" "SLC25A13" "0000453817" "SLC25A13" ## 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 = 260 "{{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}}" "0000181680" "1" "10" "7" "95926165" "95926165" "subst" "0.0464208" "00006" "SLC25A13_000001" "g.95926165G>C" "8/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.96296853G>C" "" "benign" "" "0000181681" "1" "10" "7" "95864108" "95864108" "subst" "0.615822" "00006" "SLC25A13_000002" "g.95864108T>C" "57/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "rs6957975" "0" "" "" "g.96234796T>C" "" "benign" "" "0000181682" "1" "10" "7" "95838331" "95838331" "subst" "0.0449449" "00006" "SLC25A13_000003" "g.95838331A>C" "5/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.96209019A>C" "" "benign" "" "0000181683" "1" "10" "7" "95814193" "95814193" "subst" "0.0132667" "00006" "SLC25A13_000004" "g.95814193A>C" "1/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.96184881A>C" "" "benign" "" "0000181684" "1" "10" "7" "95800820" "95800820" "subst" "0.395219" "00006" "SLC25A13_000005" "g.95800820T>C" "40/94" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.96171508T>C" "" "benign" "" "0000181685" "1" "10" "7" "95751221" "95751221" "subst" "0.00238041" "00006" "SLC25A13_000006" "g.95751221G>A" "1/94" "{PMID:Mitchell 2009:18666241}" "" "Ser560Ser" "" "Germline" "" "" "0" "" "" "g.96121909G>A" "" "benign" "" "0000181686" "0" "70" "7" "95818620" "95818620" "subst" "0" "02159" "SLC25A13_000014" "g.95818620C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.96189308C>A" "" "likely pathogenic" "" "0000181687" "2" "90" "7" "95820501" "95820501" "subst" "4.0665E-6" "00006" "SLC25A13_000010" "g.95820501G>T" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.96191189G>T" "" "pathogenic" "" "0000181688" "2" "90" "7" "95820501" "95820501" "subst" "4.0665E-6" "00006" "SLC25A13_000010" "g.95820501G>T" "" "{PMID:Tazawa 2001:11343052}" "" "" "" "Germline" "" "" "0" "" "" "g.96191189G>T" "" "pathogenic" "" "0000181689" "2" "90" "7" "95820501" "95820501" "subst" "4.0665E-6" "00006" "SLC25A13_000010" "g.95820501G>T" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.96191189G>T" "" "pathogenic" "" "0000181690" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0001}" "" "851GTATdel" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000181691" "2" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0001}" "" "851GTATdel" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000181692" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0001}" "" "851GTATdel" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000181693" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0001}" "" "851GTATdel" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000181694" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Ohura 2001:11281457}, {OMIM603859:0001}" "" "851GTATdel" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000181695" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Tamamori 2002:12424587}, {OMIM603859:0001}" "" "851GTATdel" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000181696" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0001}" "" "851GTATdel" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000181697" "0" "90" "7" "95818685" "95818688" "del" "0" "02159" "SLC25A13_000007" "g.95818685_95818688del" "" "" "" "851GTATdel" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000181698" "1" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Yasuda 2000:11153906}" "" "IVS11+1G>A" "" "Germline" "yes" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000181699" "2" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Ohura 2001:11281457}, {OMIM603859:0002}" "" "IVS11+1G>A" "" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000181700" "2" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Tamamori 2002:12424587}, {OMIM603859:0002}" "" "IVS11+1G>A" "" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000181701" "1" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0002}" "" "IVS11+1G>A" "" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000181702" "2" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0002}" "" "IVS11+1G>A" "" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000181703" "1" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Tamamori 2002:12424587}, {OMIM603859:0002}" "" "IVS11+1G>A" "" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000181704" "2" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Tamamori 2002:12424587}, {OMIM603859:0002}" "" "IVS11+1G>A" "" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000181705" "1" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Tomamosa 2001:11343053}, {OMIM603859:0002}" "" "IVS11+1G>A" "" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000181706" "2" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Tomamosa 2001:11343053}, {OMIM603859:0002}" "" "IVS11+1G>A" "" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000181707" "2" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0005}" "" "IVS13+1G>A" "" "Germline" "" "" "0" "" "" "g.96170044C>T" "" "pathogenic" "" "0000181708" "1" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0003}" "" "1638ins23" "" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic" "" "0000181709" "2" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "" "{PMID:Kobayashi 1999:10369257}, {OMIM603859:0003}" "" "1638ins23" "" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic" "" "0000181710" "11" "90" "7" "95751045" "95751045" "subst" "8.13279E-6" "00006" "SLC25A13_000013" "g.95751045C>T" "" "{PMID:Fiermonte 2008:18367750}, {OMIM603859:0007}" "" "" "not in 104 control chromosomes" "Germline" "" "" "0" "" "" "g.96121733C>T" "" "pathogenic" "" "0000181711" "21" "90" "7" "95751045" "95751045" "subst" "8.13279E-6" "00006" "SLC25A13_000013" "g.95751045C>T" "" "{PMID:Fiermonte 2008:18367750}, {OMIM603859:0007}" "" "" "not in 104 control chromosomes" "Germline" "" "" "0" "" "" "g.96121733C>T" "" "pathogenic" "" "0000181712" "11" "90" "7" "95751045" "95751045" "subst" "8.13279E-6" "00006" "SLC25A13_000013" "g.95751045C>T" "" "{PMID:Fiermonte 2008:18367750}, {OMIM603859:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.96121733C>T" "" "pathogenic" "" "0000181713" "21" "90" "7" "95751045" "95751045" "subst" "8.13279E-6" "00006" "SLC25A13_000013" "g.95751045C>T" "" "{PMID:Fiermonte 2008:18367750}, {OMIM603859:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.96121733C>T" "" "pathogenic" "" "0000181714" "2" "90" "7" "95751009" "95751009" "dup" "0" "00006" "SLC25A13_000012" "g.95751009dup" "" "{PMID:Yasuda 2000:11153906}, {OMIM603859:0006}" "" "1800ins1" "" "Germline" "yes" "" "0" "" "" "g.96121697dup" "" "pathogenic" "" "0000181715" "1" "90" "7" "95751009" "95751009" "dup" "0" "00006" "SLC25A13_000012" "g.95751009dup" "" "{PMID:Tazawa 2001:11343052}, {OMIM603859:0006}" "" "1800ins1" "" "Germline" "" "" "0" "" "" "g.96121697dup" "" "pathogenic" "" "0000222668" "1" "90" "7" "95951254" "95951254" "subst" "0" "00006" "SLC25A13_000023" "g.95951254C>T" "" "{PMID:Takahashi 2006:16449956}" "" "EX1-1G>A" "" "Germline" "" "" "0" "" "" "g.96321942C>T" "" "pathogenic" "" "0000222669" "1" "90" "7" "95906593" "95906593" "subst" "5.31636E-5" "00006" "SLC25A13_000016" "g.95906593G>A" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "compound heterozygous case" "Germline" "" "" "0" "" "" "g.96277281G>A" "" "pathogenic" "" "0000222670" "1" "90" "7" "95820501" "95820501" "subst" "4.0665E-6" "00006" "SLC25A13_000010" "g.95820501G>T" "12/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "" "Germline" "yes" "" "0" "" "" "g.96191189G>T" "" "pathogenic" "" "0000222671" "2" "90" "7" "95820501" "95820501" "subst" "4.0665E-6" "00006" "SLC25A13_000010" "g.95820501G>T" "" "{PMID:Takahashi 2006:16449956}" "" "" "" "Germline" "" "" "0" "" "" "g.96191189G>T" "" "pathogenic (recessive)" "" "0000222672" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "851_854del" "compound heterozygous case" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222673" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "851_854del" "compound heterozygous cases" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222674" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222675" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "851_854del" "compound heterozygous case" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222676" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222677" "1" "90" "7" "95813703" "95813703" "subst" "8.12585E-6" "00006" "SLC25A13_000017" "g.95813703G>A" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "compound heterozygous case" "Germline" "" "" "0" "" "" "g.96184391G>A" "" "pathogenic" "" "0000222678" "1" "90" "7" "95813696" "95813696" "subst" "0" "00006" "SLC25A13_000018" "g.95813696T>C" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "compound heterozygous case" "Germline" "" "" "0" "" "" "g.96184384T>C" "" "pathogenic" "" "0000222679" "1" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "49 compound heterozygous families, combination variants not reported" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic (recessive)" "" "0000222680" "3" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS11+1G>A" "34 homozygous families" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000222681" "11" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "108/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851delGTAT" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000222682" "1" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "compound heterozygous cases" "Germline" "" "" "0" "" "" "g.96170044C>T" "" "pathogenic" "" "0000222683" "3" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "" "Germline" "" "" "0" "" "" "g.96170044C>T" "" "pathogenic" "" "0000222684" "1" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "compound heterozygous cases" "Germline" "" "" "0" "" "" "g.96170044C>T" "" "pathogenic" "" "0000222685" "1" "90" "7" "95761168" "95761168" "subst" "0" "00006" "SLC25A13_000019" "g.95761168T>C" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "" "compound heterozygous case" "Germline" "" "" "0" "" "" "g.96131856T>C" "" "pathogenic" "" "0000222686" "1" "90" "7" "95751309" "95751309" "subst" "4.06194E-6" "00006" "SLC25A13_000020" "g.95751309C>T" "4/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "G531D" "" "Germline" "yes" "" "0" "" "" "g.96121997C>T" "" "pathogenic" "" "0000222687" "1" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "8/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1638ins23" "" "Germline" "yes" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic" "" "0000222689" "11" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "" "{PMID:Woo 2014:24508627}, {DOI:Woo 2014:10.1016/j.cca.2014.01.032}" "" "IVS16ins3kb" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000222690" "3" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "10/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS16ins3kb" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000222692" "3" "30" "7" "95750636" "95750636" "subst" "5.28099E-5" "00006" "SLC25A13_000022" "g.95750636G>A" "1/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "variant on RNA only from maternal allele" "Germline" "" "" "0" "" "" "g.96121324G>A" "" "likely benign" "" "0000222693" "21" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "108/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851delGTAT" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000222694" "1" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "1/2744 control chromosomes" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "not found in 5282 Chinese / 4456 Korean control chromosomes" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000222695" "1" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "119/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS11+1G>A" "" "Germline" "yes" "" "0" "" "" "g.96184276C>T" "" "pathogenic (recessive)" "" "0000222696" "2" "70" "7" "95951254" "95951254" "subst" "0" "00006" "SLC25A13_000023" "g.95951254C>T" "5/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "Ex1-1G>A" "" "Germline" "yes" "" "0" "" "" "g.96321942C>T" "" "likely pathogenic (recessive)" "" "0000222697" "2" "90" "7" "95761054" "95761054" "subst" "0" "00006" "SLC25A13_000024" "g.95761054C>A" "1/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS15+1>G>T" "" "Germline" "yes" "" "0" "" "" "g.96131742C>A" "" "pathogenic (recessive)" "" "0000222698" "21" "90" "7" "95775984" "95775984" "subst" "7.30976E-5" "00006" "SLC25A13_000025" "g.95775984T>G" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "detected as homozygous on RNA level" "Germline" "yes" "" "0" "" "" "g.96146672T>G" "" "pathogenic" "" "0000222699" "11" "90" "7" "95799355" "95799355" "subst" "0" "00006" "SLC25A13_000026" "g.95799355A>C" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS13+2T>G" "" "Germline" "yes" "" "0" "" "" "g.96170043A>C" "" "pathogenic" "" "0000222700" "2" "90" "7" "95926233" "95926233" "subst" "0" "00006" "SLC25A13_000027" "g.95926233C>A" "2/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "" "Germline" "yes" "" "0" "" "" "g.96296921C>A" "" "pathogenic" "" "0000222701" "21" "90" "7" "95926233" "95926233" "subst" "0" "00006" "SLC25A13_000027" "g.95926233C>A" "2/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "" "Germline" "yes" "" "0" "" "" "g.96296921C>A" "" "pathogenic" "" "0000222702" "21" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "135/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS11+1G>A" "" "Germline" "yes" "" "0" "" "" "g.96184276C>T" "" "pathogenic (recessive)" "" "0000222703" "11" "90" "7" "95813688" "95813688" "subst" "4.87512E-5" "00006" "SLC25A13_000028" "g.95813688G>A" "2/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "" "Germline" "yes" "" "0" "" "" "g.96184376G>A" "" "pathogenic (recessive)" "" "0000222704" "1" "90" "7" "95813688" "95813688" "subst" "4.87512E-5" "00006" "SLC25A13_000028" "g.95813688G>A" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "" "Germline" "yes" "" "0" "" "" "g.96184376G>A" "" "pathogenic" "" "0000222705" "11" "90" "7" "95813620" "95813620" "del" "0" "00006" "SLC25A13_000029" "g.95813620del" "1/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1146delA" "" "Germline" "yes" "" "0" "" "" "g.96184308del" "" "pathogenic (recessive)" "" "0000222706" "21" "70" "7" "95951254" "95951254" "subst" "0" "00006" "SLC25A13_000023" "g.95951254C>T" "5/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "Ex1-1G>A" "" "Germline" "yes" "" "0" "" "" "g.96321942C>T" "" "likely pathogenic" "" "0000222707" "2" "90" "7" "95775946" "95775946" "del" "0" "00006" "SLC25A13_000030" "g.95775946del" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1374_1375delG" "" "Germline" "yes" "" "0" "" "" "g.96146634del" "" "pathogenic" "" "0000222708" "21" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "108/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851delGTAT" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000222709" "11" "70" "7" "95751264" "95751264" "subst" "4.06263E-6" "00006" "SLC25A13_000031" "g.95751264G>A" "1/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "" "Germline" "yes" "" "0" "" "" "g.96121952G>A" "" "likely pathogenic" "" "0000222710" "2" "90" "7" "95751007" "95751007" "subst" "0" "00006" "SLC25A13_000032" "g.95751007C>A" "3/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "" "Germline" "yes" "" "0" "" "" "g.96121695C>A" "" "pathogenic" "" "0000222711" "3" "90" "7" "95751045" "95751045" "subst" "8.13279E-6" "00006" "SLC25A13_000013" "g.95751045C>T" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "" "" "Germline" "yes" "" "0" "" "" "g.96121733C>T" "" "pathogenic" "" "0000222800" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Yeh 2006:16737877}" "" "851del4" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222801" "2" "90" "7" "95822344" "95822344" "subst" "9.35051E-5" "00006" "SLC25A13_000033" "g.95822344C>T" "" "{PMID:Yeh 2006:16737877}" "" "IVS6+5G>A" "" "Germline" "yes" "" "0" "" "" "g.96193032C>T" "" "pathogenic" "" "0000222802" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Yeh 2006:16737877}" "" "851del4" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222803" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Yeh 2006:16737877}" "" "851del4" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222804" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Yeh 2006:16737877}" "" "851del4" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222805" "3" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "" "{PMID:Yeh 2006:16737877}" "" "1638ins23" "" "Germline" "yes" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic" "" "0000222806" "1" "90" "7" "95822344" "95822344" "subst" "9.35051E-5" "00006" "SLC25A13_000033" "g.95822344C>T" "" "{PMID:Yeh 2006:16737877}" "" "IVS6+5G>A" "unknown variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.96193032C>T" "" "pathogenic" "" "0000222807" "1" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Ko 2007:17982687}" "" "IVS11+1G>A" "" "Germline" "yes" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000222808" "2" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "" "{PMID:Ko 2007:17982687}" "" "IVS16ins3kb" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000222809" "1" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Ko 2007:17982687}" "" "IVS11+1G>A" "" "Germline" "yes" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000222810" "2" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "" "{PMID:Ko 2007:17982687}" "" "IVS16ins3kb" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000222811" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Ko 2007:17982687}" "" "851del4" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222812" "2" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "" "{PMID:Ko 2007:17982687}" "" "IVS16ins3kb" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000222813" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Ko 2007:17982687}" "" "851del4" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222814" "2" "90" "7" "95813589" "95813589" "subst" "0" "00006" "SLC25A13_000034" "g.95813589C>T" "" "{PMID:Ko 2007:17982687}" "" "G393S" "" "Germline" "yes" "" "0" "" "" "g.96184277C>T" "" "pathogenic" "" "0000222815" "1" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "" "{PMID:Ko 2007:17982687}" "" "IVS13+1G>A" "" "Germline" "yes" "" "0" "" "" "g.96170044C>T" "" "pathogenic" "" "0000222816" "2" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "" "{PMID:Ko 2007:17982687}" "" "IVS16ins3kb" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000222817" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Ko 2007:17982687}" "" "851del4" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222818" "2" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Ko 2007:17982687}" "" "IVS11+1G>A" "" "Germline" "yes" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000222821" "1" "90" "7" "95761181" "95761181" "subst" "4.06981E-6" "00006" "SLC25A13_000035" "g.95761181A>G" "" "{DOI:Hutchin 2006 P-4-23:10.1007/s10545-006-9995-6}" "" "C489R" "" "Germline" "yes" "" "0" "" "" "g.96131869A>G" "" "pathogenic" "" "0000222822" "2" "90" "7" "95749532" "95951459" "" "0" "00006" "SLC25A13_000036" "g.(95749532_95951459)del" "" "{DOI:Hutchin 2006 P-4-23:10.1007/s10545-006-9995-6}" "" "" "large deletion detected on RNA level" "Germline" "yes" "" "0" "" "" "g.(96120220_96322147)del" "" "pathogenic" "" "0000222823" "21" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{DOI:Sheng 2006 P-18-24:10.1007/s10545-006-9995-6}" "" "851del4" "" "Germline" "yes" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000222824" "11" "90" "7" "95800825" "95800825" "subst" "0" "00006" "SLC25A13_000037" "g.95800825G>A" "" "{DOI:Sheng 2006 P-18-24:10.1007/s10545-006-9995-6}" "" "C1189T (Q3987X)" "" "Germline" "yes" "" "0" "" "" "g.96171513G>A" "" "pathogenic" "" "0000222825" "3" "90" "7" "95751015" "95751015" "subst" "0" "00006" "SLC25A13_000038" "g.95751015A>C" "" "{DOI:Luder 2006 O-17-2:10.1007/s10545-006-9995-6}" "" "T1793G (L598R)" "" "Germline" "yes" "" "0" "" "" "g.96121703A>C" "" "pathogenic" "" "0000222826" "3" "90" "7" "95751015" "95751015" "subst" "0" "00006" "SLC25A13_000038" "g.95751015A>C" "" "{DOI:Luder 2006 O-17-2:10.1007/s10545-006-9995-6}" "" "T1793G (L598R)" "" "Germline" "yes" "" "0" "" "" "g.96121703A>C" "" "pathogenic" "" "0000222827" "1" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Takaya 2005:16311094}" "" "IVS11+1G>A" "" "Germline" "yes" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000222828" "2" "90" "7" "95750721" "95751236" "del" "0" "00006" "SLC25A13_000039" "g.95750721_95751236del" "" "{PMID:Takaya 2005:16311094}" "" "Ex16+74_IVS17-32del516" "" "Germline" "yes" "" "0" "" "" "g.96121409_96121924del" "" "pathogenic" "" "0000222829" "3" "90" "7" "95750721" "95751236" "del" "0" "00006" "SLC25A13_000039" "g.95750721_95751236del" "" "{PMID:Takaya 2005:16311094}" "" "Ex16+74_IVS17-32del516" "" "Germline" "yes" "" "0" "" "" "g.96121409_96121924del" "" "pathogenic" "" "0000222830" "3" "90" "7" "95757034" "95757035" "ins" "0" "00006" "SLC25A13_000040" "g.95757034_95757035ins[A;95757035_95766604]" "" "{PMID:Ben-Shalom 2002:12409267}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000222831" "3" "90" "7" "95822348" "95822348" "subst" "0" "00006" "SLC25A13_000041" "g.95822348C>G" "" "{PMID:Lu 2005:16059747}" "" "IVS6+1G>C" "" "Germline" "yes" "" "0" "" "" "g.96193036C>G" "" "pathogenic" "" "0000222832" "1" "90" "7" "95822414" "95822414" "subst" "2.03211E-5" "00006" "SLC25A13_000042" "g.95822414G>A" "" "{PMID:Lu 2005:16059747}" "" "R184X" "unknown variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.96193102G>A" "" "pathogenic" "" "0000222833" "11" "90" "7" "95751007" "95751007" "subst" "0" "00006" "SLC25A13_000032" "g.95751007C>A" "" "{PMID:Tazawa 2004:15542392}" "" "" "" "Germline" "yes" "" "0" "" "" "g.96121695C>A" "" "pathogenic" "" "0000222834" "21" "90" "7" "95822344" "95822344" "subst" "9.35051E-5" "00006" "SLC25A13_000033" "g.95822344C>T" "" "{PMID:Lu 2005:16059747},{PMID:Tazawa 2004:15542392}" "" "IVS6+5G>A" "no detectable mRNA" "Germline" "yes" "" "0" "" "" "g.96193032C>T" "" "pathogenic" "" "0000222835" "1" "90" "7" "95751007" "95751007" "subst" "0" "00006" "SLC25A13_000043" "g.95751007C>T" "" "{PMID:Yamaguchi 2002:11793471}" "" "E601K" "" "Germline" "yes" "" "0" "" "" "g.96121695C>T" "" "pathogenic" "" "0000222836" "2" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "" "{PMID:Yamaguchi 2002:11793471}" "" "1638ins23" "" "Germline" "yes" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic" "" "0000222837" "1" "90" "7" "95750995" "95750995" "subst" "6.51031E-5" "00006" "SLC25A13_000044" "g.95750995G>A" "" "{PMID:Yasuda 2000:11153906}" "" "R605X" "" "Germline" "yes" "" "0" "" "" "g.96121683G>A" "" "pathogenic" "" "0000222838" "2" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Yasuda 2000:11153906}" "" "IVS11+1G>A" "" "Germline" "yes" "" "0" "" "" "g.96184276C>T" "" "pathogenic" "" "0000222841" "1" "90" "7" "95751009" "95751009" "dup" "0" "00006" "SLC25A13_000012" "g.95751009dup" "" "{PMID:Yasuda 2000:11153906}" "" "1800ins1, 1799–1800insA" "" "Germline" "yes" "" "0" "" "" "g.96121697dup" "" "pathogenic" "" "0000222842" "2" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "" "{PMID:Yasuda 2000:11153906}" "" "IVS13+1G>A" "" "Germline" "yes" "" "0" "" "" "g.96170044C>T" "" "pathogenic" "" "0000249120" "0" "10" "7" "95775862" "95775862" "del" "0" "02325" "SLC25A13_000049" "g.95775862del" "" "" "" "SLC25A13(NM_001160210.2):c.1455+19delT, SLC25A13(NM_014251.3):c.1452+19delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96146550del" "" "benign" "" "0000249121" "0" "10" "7" "95818882" "95818882" "del" "0" "02325" "SLC25A13_000050" "g.95818882del" "" "" "" "SLC25A13(NM_001160210.2):c.848+28delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96189570del" "" "benign" "" "0000251695" "0" "30" "7" "95775862" "95775862" "del" "0" "02326" "SLC25A13_000048" "g.95775862del" "" "" "" "SLC25A13(NM_001160210.2):c.1455+19delT, SLC25A13(NM_014251.3):c.1452+19delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96146550del" "" "likely benign" "" "0000298263" "0" "10" "7" "95864108" "95864108" "subst" "0.615822" "02325" "SLC25A13_000002" "g.95864108T>C" "" "" "" "SLC25A13(NM_001160210.2):c.328+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96234796T>C" "" "benign" "" "0000302179" "0" "10" "7" "95800820" "95800820" "subst" "0.395219" "02326" "SLC25A13_000005" "g.95800820T>C" "" "" "" "SLC25A13(NM_014251.3):c.1194A>G (p.L398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96171508T>C" "" "benign" "" "0000302180" "0" "10" "7" "95818885" "95818885" "subst" "0" "02326" "SLC25A13_000053" "g.95818885C>A" "" "" "" "SLC25A13(NM_014251.3):c.848+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96189573C>A" "" "benign" "" "0000533142" "0" "50" "7" "95818893" "95818893" "subst" "4.10206E-5" "02325" "SLC25A13_000056" "g.95818893C>T" "" "" "" "SLC25A13(NM_001160210.2):c.848G>A (p.G283E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96189581C>T" "" "VUS" "" "0000533144" "0" "50" "7" "95906527" "95906527" "subst" "3.51386E-5" "02325" "SLC25A13_000057" "g.95906527C>T" "" "" "" "SLC25A13(NM_001160210.2):c.193G>A (p.V65M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96277215C>T" "" "VUS" "" "0000621959" "0" "90" "7" "95818685" "95818688" "del" "0" "02325" "SLC25A13_000007" "g.95818685_95818688del" "" "" "" "SLC25A13(NM_001160210.2):c.852_855delTATG (p.M285Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000652377" "1" "50" "7" "95751045" "95751045" "subst" "8.13279E-6" "03575" "SLC25A13_000013" "g.95751045C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs121908532}" "Germline" "" "rs121908532" "0" "" "" "g.96121733C>T" "" "VUS" "" "0000683203" "21" "90" "7" "95822348" "95822348" "subst" "0" "00006" "SLC25A13_000041" "g.95822348C>G" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683204" "21" "90" "7" "95820501" "95820501" "subst" "4.0665E-6" "00006" "SLC25A13_000010" "g.95820501G>T" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683205" "0" "90" "7" "95818684" "95818687" "del" "0.000333046" "00006" "SLC25A13_000007" "g.95818684_95818687del" "" "{PMID:Togawa 2016:26858187}" "" "852_855delTATG" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683206" "11" "90" "7" "95818684" "95818687" "del" "0.000333046" "00006" "SLC25A13_000007" "g.95818684_95818687del" "" "{PMID:Togawa 2016:26858187}" "" "852_855delTATG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683219" "11" "90" "7" "95751309" "95751309" "subst" "4.06194E-6" "00006" "SLC25A13_000020" "g.95751309C>T" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683220" "11" "90" "7" "95818684" "95818687" "del" "0.000333046" "00006" "SLC25A13_000007" "g.95818684_95818687del" "" "{PMID:Togawa 2016:26858187}" "" "852_855delTATG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683221" "0" "90" "7" "95813688" "95813688" "subst" "4.87512E-5" "00006" "SLC25A13_000028" "g.95813688G>A" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683222" "21" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000683233" "21" "90" "7" "95951254" "95951254" "subst" "0" "00006" "SLC25A13_000023" "g.95951254C>T" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000683234" "11" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Togawa 2016:26858187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000684762" "0" "30" "7" "95951267" "95951267" "subst" "0.000812959" "00004" "SLC25A13_000058" "g.95951267A>G" "frequency 0.032" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.96321955A>G" "" "likely benign" "" "0000803313" "0" "50" "7" "95751220" "95751220" "subst" "9.34268E-5" "01943" "SLC25A13_000059" "g.95751220C>T" "" "" "" "SLC25A13(NM_001160210.1):c.1684G>A (p.G562R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803314" "0" "30" "7" "95813596" "95813596" "subst" "5.68773E-5" "01943" "SLC25A13_000060" "g.95813596C>A" "" "" "" "SLC25A13(NM_001160210.1):c.1173G>T (p.L391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851730" "0" "30" "7" "95775946" "95775946" "subst" "0.00134412" "02326" "SLC25A13_000061" "g.95775946C>T" "" "" "" "SLC25A13(NM_014251.3):c.1374G>A (p.V458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912835" "0" "30" "7" "95751221" "95751221" "subst" "0.00238041" "02326" "SLC25A13_000006" "g.95751221G>A" "" "" "" "SLC25A13(NM_014251.3):c.1680C>T (p.S560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917899" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "536/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917900" "3" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000065" "g.95751061_95751062insN[(3000)]" "21/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "IVS16ins3kb" "" "Germline" "" "" "0" "" "" "g.96121749_96121750insN[(3000)]" "" "pathogenic (recessive)" "" "0000917901" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "536/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917902" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "536/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917903" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "536/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917904" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "536/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917905" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "536/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917906" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "536/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917907" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "536/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917908" "1" "90" "7" "95799437" "95799437" "subst" "8.1357E-6" "00006" "SLC25A13_000067" "g.95799437C>T" "1/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "" "" "Germline" "" "" "0" "" "" "g.96170125C>T" "" "pathogenic (recessive)" "" "0000917909" "11" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "536/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917910" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "536/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917911" "2" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "4/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "A554fs*570" "" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic (recessive)" "" "0000917912" "2" "90" "7" "95822344" "95822344" "subst" "9.35051E-5" "00006" "SLC25A13_000033" "g.95822344C>T" "8/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "" "" "Germline" "" "" "0" "" "" "g.96193032C>T" "" "pathogenic (recessive)" "" "0000917913" "2" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000065" "g.95751061_95751062insN{(3000)]" "21/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "IVS16ins3kb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917914" "2" "90" "7" "95951267" "95951267" "subst" "0.000812959" "00006" "SLC25A13_000058" "g.95951267A>G" "4/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "M1T" "" "Germline" "" "" "0" "" "" "g.96321955A>G" "" "pathogenic (recessive)" "" "0000917915" "2" "90" "7" "95906585" "95906585" "subst" "0" "00006" "SLC25A13_000069" "g.95906585C>G" "1/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "" "" "Germline" "" "" "0" "" "" "g.96277273C>G" "" "pathogenic (recessive)" "" "0000917916" "2" "90" "7" "95775921" "95775921" "subst" "8.12176E-6" "00006" "SLC25A13_000066" "g.95775921G>A" "3/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "" "" "Germline" "" "" "0" "" "" "g.96146609G>A" "" "pathogenic (recessive)" "" "0000917917" "2" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "3/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "" "" "Germline" "" "" "0" "" "" "g.96184276C>T" "" "pathogenic (recessive)" "" "0000917918" "2" "90" "7" "95751045" "95751045" "subst" "8.13279E-6" "00006" "SLC25A13_000013" "g.95751045C>T" "1/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "" "" "Germline" "" "" "0" "" "" "g.96121733C>T" "" "pathogenic (recessive)" "" "0000917919" "21" "50" "7" "95750575" "95750575" "subst" "0" "00006" "SLC25A13_000064" "g.95750575G>T" "1/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "[1956C>A;1962del]" "" "Germline" "" "" "0" "" "" "g.96121263G>T" "" "VUS" "" "0000917920" "2" "90" "7" "95906590" "95906716" "del" "0" "00006" "SLC25A13_000070" "g.95906590_95906716del" "1/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "" "" "Germline" "" "" "0" "" "" "g.96277278_96277404del" "" "pathogenic (recessive)" "" "0000917921" "21" "90" "7" "95750571" "95750571" "del" "0" "00006" "SLC25A13_000063" "g.95750571del" "1/584 chromosomes CD cases" "{PMID:Nguyen 2023:36599957}" "" "[1956C>A;1962del]" "" "Germline" "" "" "0" "" "" "g.96121259del" "" "pathogenic (recessive)" "" "0000917926" "3" "90" "7" "95757044" "95757045" "ins" "0" "00006" "SLC25A13_000062" "g.95757044_95757045ins[95757045_95766604;A]" "" "{PMID:Ben-Shalom 2002:12409267}" "" "dup ex15" "" "Germline" "" "" "0" "" "" "g.96127732_96127733ins[96127733_96137292;A]" "" "pathogenic (recessive)" "" "0000917927" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "108/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "combination variants not reported, 2 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917928" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "193/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "combination variants not reported, 15 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917929" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "108/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "1 homozygous case CTLN2" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917930" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "193/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "23 homozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917931" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "108/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "combination variants not reported, 44 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917932" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "193/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "combination variants not reported, 78 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917933" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "108/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "28 homozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917934" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "193/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "21 homozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917935" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "108/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "combination variants not reported, 2 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917936" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "193/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "combination variants not reported, 2 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917937" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "193/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "1 homozygous case NICCD" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917938" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "193/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "851_854delGTAT" "4 homozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000917939" "1" "90" "7" "95813591" "95813749" "del" "0" "00006" "SLC25A13_000068" "g.95813591_95813749del" "135/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS11+1G>A" "combination variants not reported, 76 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96184279_96184437del" "" "pathogenic (recessive)" "" "0000917940" "3" "90" "7" "95813591" "95813749" "del" "0" "00006" "SLC25A13_000068" "g.95813591_95813749del" "135/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS11+1G>A" "28 homozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96184279_96184437del" "" "pathogenic (recessive)" "" "0000917941" "1" "90" "7" "95813591" "95813749" "del" "0" "00006" "SLC25A13_000068" "g.95813591_95813749del" "119/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS11+1G>A" "combination variants not reported, 1 heterozygous case CTLN2" "Germline" "" "" "0" "" "" "g.96184279_96184437del" "" "pathogenic (recessive)" "" "0000917942" "1" "90" "7" "95813591" "95813749" "del" "0" "00006" "SLC25A13_000068" "g.95813591_95813749del" "135/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS11+1G>A" "combination variants not reported, 2 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96184279_96184437del" "" "pathogenic (recessive)" "" "0000917943" "1" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "8/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1638ins23" "combination variants not reported, 2 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic (recessive)" "" "0000917944" "1" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "25/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1638ins23" "combination variants not reported, 6 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic (recessive)" "" "0000917945" "3" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "25/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1638ins23" "1 homozygous case NICCD" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic (recessive)" "" "0000917946" "1" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "8/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1638ins23" "combination variants not reported, 1 heterozygous case CTLN2" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic (recessive)" "" "0000917947" "1" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "25/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1638ins23" "combination variants not reported, 15 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic (recessive)" "" "0000917948" "3" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "8/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1638ins23" "2 homozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic (recessive)" "" "0000917949" "3" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "25/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1638ins23" "1 homozygous case NICCD" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic (recessive)" "" "0000917950" "1" "90" "7" "95820501" "95820501" "subst" "4.0665E-6" "00006" "SLC25A13_000010" "g.95820501G>T" "12/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "S225X" "combination variants not reported, 9 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96191189G>T" "" "pathogenic (recessive)" "" "0000917951" "1" "90" "7" "95820501" "95820501" "subst" "4.0665E-6" "00006" "SLC25A13_000010" "g.95820501G>T" "23/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "S225X" "combination variants not reported, 15 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96191189G>T" "" "pathogenic (recessive)" "" "0000917952" "3" "90" "7" "95820501" "95820501" "subst" "4.0665E-6" "00006" "SLC25A13_000010" "g.95820501G>T" "12/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "S225X" "1 homozygous case NICCD" "Germline" "" "" "0" "" "" "g.96191189G>T" "" "pathogenic (recessive)" "" "0000917953" "3" "90" "7" "95820501" "95820501" "subst" "4.0665E-6" "00006" "SLC25A13_000010" "g.95820501G>T" "23/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "S225X" "4 homozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96191189G>T" "" "pathogenic (recessive)" "" "0000917954" "1" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "20/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS13+1G>A" "combination variants not reported, 15 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96170044C>T" "" "pathogenic (recessive)" "" "0000917955" "1" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "37/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS13+1G>A" "combination variants not reported, 26 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96170044C>T" "" "pathogenic (recessive)" "" "0000917956" "3" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "20/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS13+1G>A" "2 homozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96170044C>T" "" "pathogenic (recessive)" "" "0000917957" "3" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "37/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS13+1G>A" "5 homozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96170044C>T" "" "pathogenic (recessive)" "" "0000917958" "1" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "37/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS13+1G>A" "combination variants not reported, 1 heterozygous case NICCD" "Germline" "" "" "0" "" "" "g.96170044C>T" "" "pathogenic (recessive)" "" "0000917959" "1" "90" "7" "95799356" "95799356" "subst" "4.06464E-6" "00006" "SLC25A13_000011" "g.95799356C>T" "20/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS13+1G>A" "combination variants not reported, 1 heterozygous case CTLN2" "Germline" "" "" "0" "" "" "g.96170044C>T" "" "pathogenic (recessive)" "" "0000917960" "1" "90" "7" "95751009" "95751009" "dup" "0" "00006" "SLC25A13_000012" "g.95751009dup" "4/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1799–1800insA" "combination variants not reported, 3 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96121697dup" "" "pathogenic (recessive)" "" "0000917961" "1" "90" "7" "95751009" "95751009" "dup" "0" "00006" "SLC25A13_000012" "g.95751009dup" "6/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1799–1800insA" "combination variants not reported, 4 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96121697dup" "" "pathogenic (recessive)" "" "0000917962" "3" "90" "7" "95751009" "95751009" "dup" "0" "00006" "SLC25A13_000012" "g.95751009dup" "6/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "1799–1800insA" "1 homozygous case NICCD" "Germline" "" "" "0" "" "" "g.96121697dup" "" "pathogenic (recessive)" "" "0000917963" "1" "90" "7" "95750995" "95750995" "subst" "6.51031E-5" "00006" "SLC25A13_000044" "g.95750995G>A" "4/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "R605X" "combination variants not reported, 2 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96121683G>A" "" "pathogenic (recessive)" "" "0000917964" "1" "90" "7" "95750995" "95750995" "subst" "6.51031E-5" "00006" "SLC25A13_000044" "g.95750995G>A" "2/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "R605X" "combination variants not reported, 2 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96121683G>A" "" "pathogenic (recessive)" "" "0000917965" "3" "90" "7" "95750995" "95750995" "subst" "6.51031E-5" "00006" "SLC25A13_000044" "g.95750995G>A" "4/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "R605X" "1 homozygous case CTLN2" "Germline" "" "" "0" "" "" "g.96121683G>A" "" "pathogenic (recessive)" "" "0000917966" "1" "90" "7" "95751007" "95751007" "subst" "0" "00006" "SLC25A13_000032" "g.95751007C>A" "5/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "E601X" "combination variants not reported, 5 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96121695C>A" "" "pathogenic (recessive)" "" "0000917967" "1" "90" "7" "95751007" "95751007" "subst" "0" "00006" "SLC25A13_000032" "g.95751007C>A" "3/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "E601X" "combination variants not reported, 2 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96121695C>A" "" "pathogenic (recessive)" "" "0000917968" "1" "90" "7" "95751007" "95751007" "subst" "0" "00006" "SLC25A13_000043" "g.95751007C>T" "1/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "E601K" "combination variants not reported, 1 heterozygous case CTLN2" "Germline" "" "" "0" "" "" "g.96121695C>T" "" "pathogenic (recessive)" "" "0000917969" "1" "90" "7" "95751007" "95751007" "subst" "0" "00006" "SLC25A13_000043" "g.95751007C>T" "1/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "E601K" "combination variants not reported, 1 heterozygous case NICCD" "Germline" "" "" "0" "" "" "g.96121695C>T" "" "pathogenic (recessive)" "" "0000917970" "1" "90" "7" "95822344" "95822344" "subst" "9.35051E-5" "00006" "SLC25A13_000033" "g.95822344C>T" "10/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS6+5G>A" "combination variants not reported, 9 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96193032C>T" "" "pathogenic (recessive)" "" "0000917971" "1" "90" "7" "95822344" "95822344" "subst" "9.35051E-5" "00006" "SLC25A13_000033" "g.95822344C>T" "10/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS6+5G>A" "combination variants not reported, 1 heterozygous case NICCD" "Germline" "" "" "0" "" "" "g.96193032C>T" "" "pathogenic (recessive)" "" "0000917972" "1" "90" "7" "95822414" "95822414" "subst" "2.03211E-5" "00006" "SLC25A13_000042" "g.95822414G>A" "2/314 chromosomes CTLN1" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "R184X" "combination variants not reported, 1 heterozygous case CTLN2" "Germline" "" "" "0" "" "" "g.96193102G>A" "" "pathogenic (recessive)" "" "0000917973" "1" "90" "7" "95822348" "95822348" "subst" "0" "00006" "SLC25A13_000041" "g.95822348C>G" "1/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS6+1G>C" "combination variants not reported, 1 heterozygous case NICCD" "Germline" "" "" "0" "" "" "g.96193036C>G" "" "pathogenic (recessive)" "" "0000917974" "3" "90" "7" "95822348" "95822348" "subst" "0" "00006" "SLC25A13_000041" "g.95822348C>G" "2/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS6+1G>C" "1 homozygous case CTLN2" "Germline" "" "" "0" "" "" "g.96193036C>G" "" "pathogenic (recessive)" "" "0000917975" "3" "90" "7" "95757044" "95757045" "ins" "0" "00006" "SLC25A13_000062" "g.95757044_95757045ins[95757045_95766604;A]" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "Ex15dup (IVS14_15)" "" "Germline" "" "" "0" "" "" "g.96127732_96127733ins[96127733_96137292;A]" "" "pathogenic (recessive)" "" "0000917976" "1" "90" "7" "95751309" "95751309" "subst" "4.06194E-6" "00006" "SLC25A13_000020" "g.95751309C>T" "7/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "G531D" "combination variants not reported, 3 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96121997C>T" "" "pathogenic (recessive)" "" "0000917977" "1" "90" "7" "95751309" "95751309" "subst" "4.06194E-6" "00006" "SLC25A13_000020" "g.95751309C>T" "4/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "G531D" "combination variants not reported, 2 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96121997C>T" "" "pathogenic (recessive)" "" "0000917978" "1" "90" "7" "95751309" "95751309" "subst" "4.06194E-6" "00006" "SLC25A13_000020" "g.95751309C>T" "7/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "G531D" "combination variants not reported, 4 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96121997C>T" "" "pathogenic (recessive)" "" "0000917979" "3" "90" "7" "95751309" "95751309" "subst" "4.06194E-6" "00006" "SLC25A13_000020" "g.95751309C>T" "4/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "G531D" "1 homozygous case CTLN2" "Germline" "" "" "0" "" "" "g.96121997C>T" "" "pathogenic (recessive)" "" "0000917980" "1" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "30/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS16ins3kb" "combination variants not reported, 6 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917981" "1" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "10/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS16ins3kb" "combination variants not reported, 4 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917982" "1" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "30/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS16ins3kb" "combination variants not reported, 16 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917983" "1" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "2/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS16ins3kb" "combination variants not reported, 2 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917984" "1" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "30/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS16ins3kb" "combination variants not reported, 4 heterozygous cases NICCD" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917985" "3" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000021" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "30/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "IVS16ins3kb" "2 homozygous cases NICCD" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917986" "3" "90" "7" "95750721" "95751236" "del" "0" "00006" "SLC25A13_000039" "g.95750721_95751236del" "6/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "Ex16+74_IVS17-32del516" "1 homozygous case NICCD" "Germline" "" "" "0" "" "" "g.96121409_96121924del" "" "pathogenic (recessive)" "" "0000917987" "3" "90" "7" "95750721" "95751236" "del" "0" "00006" "SLC25A13_000039" "g.95750721_95751236del" "6/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "Ex16+74_IVS17-32del516" "4 homozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96121409_96121924del" "" "pathogenic (recessive)" "" "0000917988" "3" "90" "7" "95751015" "95751015" "subst" "0" "00006" "SLC25A13_000038" "g.95751015A>C" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "L598R" "" "Germline" "" "" "0" "" "" "g.96121703A>C" "" "pathogenic (recessive)" "" "0000917989" "1" "70" "7" "95951254" "95951254" "subst" "0" "00006" "SLC25A13_000023" "g.95951254C>T" "5/314 chromosomes CTLN2" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "Ex1-1G>A" "combination variants not reported, 3 heterozygous cases CTLN2" "Germline" "" "" "0" "" "" "g.96321942C>T" "" "likely pathogenic (recessive)" "" "0000917990" "1" "70" "7" "95951254" "95951254" "subst" "0" "00006" "SLC25A13_000023" "g.95951254C>T" "2/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "Ex1-1G>A" "combination variants not reported, heterozygous cases NICCD" "Germline" "" "" "0" "" "" "g.96321942C>T" "" "likely pathogenic (recessive)" "" "0000917991" "1" "90" "7" "95800825" "95800825" "subst" "0" "00006" "SLC25A13_000037" "g.95800825G>A" "1/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "Q397X" "combination variants not reported, 1 heterozygous case NICCD" "Germline" "" "" "0" "" "" "g.96171513G>A" "" "pathogenic (recessive)" "" "0000917992" "1" "90" "7" "95761181" "95761181" "subst" "4.06981E-6" "00006" "SLC25A13_000035" "g.95761181A>G" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "T1465C" "combination variants not reported" "Germline" "" "" "0" "" "" "g.96131869A>G" "" "pathogenic (recessive)" "" "0000917993" "1" "90" "7" "95813688" "95813688" "subst" "4.87512E-5" "00006" "SLC25A13_000028" "g.95813688G>A" "2/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "R360X" "combination variants not reported, 1 heterozygous case NICCD" "Germline" "" "" "0" "" "" "g.96184376G>A" "" "pathogenic (recessive)" "" "0000917994" "1" "90" "7" "95813589" "95813589" "subst" "0" "00006" "SLC25A13_000034" "g.95813589C>T" "1/478 chromosomes NICCD" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "G393S" "combination variants not reported, 1 heterozygous case NICCD" "Germline" "" "" "0" "" "" "g.96184277C>T" "" "pathogenic (recessive)" "" "0000917995" "1" "90" "7" "95813588" "95813588" "subst" "4.875E-5" "00006" "SLC25A13_000008" "g.95813588C>T" "" "{PMID:Takaya 2005:16311094}" "" "IVS11+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000917996" "2" "90" "7" "95750721" "95751236" "del" "0" "00006" "SLC25A13_000039" "g.95750721_95751236del" "" "{PMID:Takaya 2005:16311094}" "" "ex16+74_IVS17-32del516" "" "Germline" "" "" "0" "" "" "g.96121409_96121924del" "" "pathogenic (recessive)" "" "0000917997" "3" "90" "7" "95750721" "95751236" "del" "0" "00006" "SLC25A13_000039" "g.95750721_95751236del" "" "{PMID:Takaya 2005:16311094}" "" "ex16+74_IVS17-32del516" "" "Germline" "" "" "0" "" "" "g.96121409_96121924del" "" "pathogenic (recessive)" "" "0000977916" "0" "30" "7" "95751230" "95751230" "subst" "0.00298207" "01804" "SLC25A13_000046" "g.95751230G>A" "" "" "" "SLC25A13(NM_014251.3):c.1671C>T (p.(Thr557=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000988438" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Chen 2022:35309121}" "" "851_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000988439" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Chen 2022:35309121}" "" "852_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000988440" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Chen 2022:35309121}" "" "853_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000988441" "1" "90" "7" "95822344" "95822344" "subst" "9.35051E-5" "00006" "SLC25A13_000033" "g.95822344C>T" "" "{PMID:Chen 2022:35309121}" "" "" "" "Germline" "" "" "0" "" "" "g.96193032C>T" "" "pathogenic (recessive)" "" "0000988442" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Chen 2022:35309121}" "" "853_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000988443" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Chen 2022:35309121}" "" "853_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000988444" "1" "90" "7" "95799353" "95799356" "del" "0" "00006" "SLC25A13_000072" "g.95799353_95799356del" "" "{PMID:Chen 2022:35309121}" "" "1311+4_+7del" "" "Germline" "" "" "0" "" "" "g.96170041_96170044del" "" "pathogenic (recessive)" "" "0000988445" "1" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Chen 2022:35309121}" "" "853_854del" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "" "0000988447" "2" "90" "7" "95820535" "95820535" "subst" "0" "00006" "SLC25A13_000073" "g.95820535G>A" "" "{PMID:Chen 2022:35309121}" "" "" "" "Germline" "" "" "0" "" "" "g.96191223G>A" "" "pathogenic (recessive)" "" "0000988448" "2" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "" "{PMID:Chen 2022:35309121}" "" "1638_1660dup23" "" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic (recessive)" "" "0000988449" "2" "90" "7" "95751241" "95751263" "dup" "0" "00006" "SLC25A13_000009" "g.95751241_95751263dup" "" "{PMID:Chen 2022:35309121}" "" "1638_1660dup23" "" "Germline" "" "" "0" "" "" "g.96121929_96121951dup" "" "pathogenic (recessive)" "" "0000988450" "2" "90" "7" "95751046" "95751046" "subst" "0" "00006" "SLC25A13_000071" "g.95751046G>A" "" "{PMID:Chen 2022:35309121}" "" "" "" "Germline" "" "" "0" "" "" "g.96121734G>A" "" "pathogenic (recessive)" "" "0000988575" "0" "90" "7" "95751061" "95751062" "ins" "0" "00006" "SLC25A13_000065" "g.95751061_95751062insN[(3000)]" "4/16 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.96121749_96121750insN[(3000)]" "" "pathogenic" "" "0000988576" "0" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "3/16 case chromosomes" "{PMID:Wang 2019:31737040}" "" "852_855delTATG" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic" "" "0000988577" "0" "70" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "1/16 case chromosomes" "{PMID:Wang 2019:31737040}" "" "851_854delGTAT" "" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "likely pathogenic" "" "0000988578" "0" "90" "7" "95813688" "95813688" "subst" "4.87512E-5" "00006" "SLC25A13_000028" "g.95813688G>A" "1/16 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.96184376G>A" "" "pathogenic" "" "0000988579" "0" "70" "7" "95775921" "95775921" "subst" "8.12176E-6" "00006" "SLC25A13_000066" "g.95775921G>A" "1/16 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.96146609G>A" "" "likely pathogenic" "" "0001027776" "11" "90" "7" "95751068" "95751069" "ins" "0" "04794" "SLC25A13_000074" "g.95751068_95751069insN[?]" "" "" "" "" "Affects SLC25A13" "Germline" "" "" "0" "" "" "g.96208979_96208980insN[?]" "" "pathogenic (recessive)" "ACMG" "0001027777" "21" "90" "7" "95751068" "95751069" "ins" "0" "04794" "SLC25A13_000074" "g.95751068_95751069insN[?]" "" "" "" "" "Affect SLC25A13" "Germline" "" "" "0" "" "" "g.96121756_96121757insN[?]" "" "pathogenic (recessive)" "ACMG" "0001058267" "1" "90" "7" "95822344" "95822344" "subst" "9.35051E-5" "00006" "SLC25A13_000033" "g.95822344C>T" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PS3, PM3_vs, PP4" "Germline" "" "" "0" "" "" "g.96193032C>T" "" "pathogenic (recessive)" "ACMG" "0001058268" "3" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PVS1, PM2_sup, PM3_vs, PP1_sup, PP4" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "ACMG" "0001058289" "2" "90" "7" "95818685" "95818688" "del" "0" "00006" "SLC25A13_000007" "g.95818685_95818688del" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PVS1, PM2_sup, PM3_vs, PP1_sup, PP4" "Germline" "" "" "0" "" "" "g.96189373_96189376del" "" "pathogenic (recessive)" "ACMG" ## 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 SLC25A13 ## Count = 260 "{{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}}" "0000181680" "00019195" "10" "69" "45" "69" "45" "c.69+45C>G" "r.(?)" "p.(=)" "2i" "0000181681" "00019195" "10" "328" "6" "328" "6" "c.328+6A>G" "r.(?)" "p.(=)" "4i" "0000181682" "00019195" "10" "329" "-42" "329" "-42" "c.329-42T>G" "r.(?)" "p.(=)" "4i" "0000181683" "00019195" "10" "1018" "46" "1018" "46" "c.1018+46T>G" "r.(?)" "p.(=)" "10i" "0000181684" "00019195" "10" "1194" "0" "1194" "0" "c.1194A>G" "r.(?)" "p.(Leu398Leu)" "12" "0000181685" "00019195" "10" "1680" "0" "1680" "0" "c.1680C>T" "r.(?)" "p.(=)" "16" "0000181686" "00019195" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Glu307*)" "9" "0000181687" "00019195" "90" "674" "0" "674" "0" "c.674C>A" "r.(?)" "p.(Ser225*)" "7" "0000181688" "00019195" "90" "674" "0" "674" "0" "c.674C>A" "r.(?)" "p.(Ser225*)" "7" "0000181689" "00019195" "90" "674" "0" "674" "0" "c.674C>A" "r.(?)" "p.(Ser225*)" "7" "0000181690" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000181691" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000181692" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000181693" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000181694" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000181695" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000181696" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000181697" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000181698" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.1019_1177del" "p.Ala340_Arg392del" "11i" "0000181699" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl?" "p.?" "11i" "0000181700" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl?" "p.?" "11i" "0000181701" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.1019_1177del" "p.Ala340_Arg392del" "11i" "0000181702" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.1019_1177del" "p.Ala340_Arg392del" "11i" "0000181703" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl?" "p.?" "11i" "0000181704" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl?" "p.?" "11i" "0000181705" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl?" "p.?" "11i" "0000181706" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl?" "p.?" "11i" "0000181707" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.1231_1311del" "p.Val411_Cys437del" "13i" "0000181708" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.(?)" "p.(Ala554Glyfs*17)" "16" "0000181709" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.(?)" "p.(Ala554Glyfs*17)" "16" "0000181710" "00019195" "90" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Arg588Gln)" "17" "0000181711" "00019195" "90" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Arg588Gln)" "17" "0000181712" "00019195" "90" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Arg588Gln)" "17" "0000181713" "00019195" "90" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Arg588Gln)" "17" "0000181714" "00019195" "90" "1799" "0" "1799" "0" "c.1799dup" "r.1799dup" "p.Tyr600*" "17" "0000181715" "00019195" "90" "1799" "0" "1799" "0" "c.1799dup" "r.(?)" "p.(Tyr600*)" "17" "0000222668" "00019195" "90" "15" "0" "15" "0" "c.15G>A" "r.0?" "p.0?" "1" "0000222669" "00019195" "90" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43*)" "3" "0000222670" "00019195" "90" "674" "0" "674" "0" "c.674C>A" "r.674c>a" "p.Ser225*" "7" "0000222671" "00019195" "90" "674" "0" "674" "0" "c.674C>A" "r.(?)" "p.(Ser225*)" "7" "0000222672" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222673" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222674" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222675" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222676" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222677" "00019195" "90" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "10" "0000222678" "00019195" "90" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Gln357Arg)" "10" "0000222679" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "11i" "0000222680" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "11i" "0000222681" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.852_855del" "p.Met285Profs*2" "8" "0000222682" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.spl" "p.?" "13i" "0000222683" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.spl" "p.?" "13i" "0000222684" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.spl" "p.?" "13i" "0000222685" "00019195" "90" "1478" "0" "1478" "0" "c.1478A>G" "r.(?)" "p.(Asp493Gly)" "12" "0000222686" "00019195" "90" "1592" "0" "1592" "0" "c.1592G>A" "r.spl?" "p.(Gly531Asp)" "13" "0000222687" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.1638_1660dup" "p.Ala554Glyfs*17" "16" "0000222689" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000222690" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000222692" "00019195" "30" "1895" "0" "1895" "0" "c.1895C>T" "r.1895c>u" "p.Pro632Leu" "18" "0000222693" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222694" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000222695" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.1019_1177del" "p.Ala340_Arg392del" "11i" "0000222696" "00019195" "70" "15" "0" "15" "0" "c.15G>A" "r.0?" "p.0?" "1" "0000222697" "00019195" "90" "1591" "1" "1591" "1" "c.1591+1G>T" "r.1453_1591del" "p.Gly485Valfs*7" "15i" "0000222698" "00019195" "90" "1336" "0" "1336" "0" "c.1336A>C" "r.1336A>C" "p.Thr446Pro" "14" "0000222699" "00019195" "90" "1311" "2" "1311" "2" "c.1311+2T>G" "r.0" "p.0" "13i" "0000222700" "00019195" "90" "46" "0" "46" "0" "c.46G>T" "r.46c>u" "p.Glu16*" "2" "0000222701" "00019195" "90" "46" "0" "46" "0" "c.46G>T" "r.46g>u" "p.Glu16*" "2" "0000222702" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "11i" "0000222703" "00019195" "90" "1078" "0" "1078" "0" "c.1078C>T" "r.1078c>u" "p.Arg360*" "11" "0000222704" "00019195" "90" "1078" "0" "1078" "0" "c.1078C>T" "r.1078c>u" "p.Arg360*" "11" "0000222705" "00019195" "90" "1146" "0" "1146" "0" "c.1146del" "r.(?)" "p.(Arg383Alafs*25)" "11" "0000222706" "00019195" "70" "15" "0" "15" "0" "c.15G>A" "r.0" "p.0" "1" "0000222707" "00019195" "90" "1375" "0" "1375" "0" "c.1375del" "r.1375del" "p.Ala459Glnfs*49" "14" "0000222708" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.852_855del" "p.Met285Profs*2" "9" "0000222709" "00019195" "70" "1637" "0" "1637" "0" "c.1637C>T" "r.1637c>u" "p.Thr546Met" "16" "0000222710" "00019195" "90" "1801" "0" "1801" "0" "c.1801G>T" "r.(?)" "p.(Glu601*)" "17" "0000222711" "00019195" "90" "1763" "0" "1763" "0" "c.1763G>A" "r.1763g>a" "p.Arg588Gln" "17" "0000222800" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222801" "00019195" "90" "615" "5" "615" "5" "c.615+5G>A" "r.spl?" "p.?" "6i" "0000222802" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222803" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222804" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222805" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.(?)" "p.(Ala554Glyfs*17)" "16" "0000222806" "00019195" "90" "615" "5" "615" "5" "c.615+5G>A" "r.spl" "p.?" "6i" "0000222807" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "11i" "0000222808" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000222809" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "11i" "0000222810" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000222811" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222812" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000222813" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222814" "00019195" "90" "1177" "0" "1177" "0" "c.1177G>A" "r.spl?" "p.(Gly393Ser)" "12" "0000222815" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.spl" "p.?" "13i" "0000222816" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000222817" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "9" "0000222818" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "11i" "0000222821" "00019195" "90" "1465" "0" "1465" "0" "c.1465T>C" "r.1465u>c" "p.Cys489Arg" "15" "0000222822" "00019195" "90" "-191" "0" "2999" "0" "c.(-191_*971)del" "r.(-191_*971)del" "p.?" "_1_18_" "0000222823" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.852_855del" "p.Met285Profs*2" "9" "0000222824" "00019195" "90" "1189" "0" "1189" "0" "c.1189C>T" "r.1189c>u" "p.Gln397*" "12" "0000222825" "00019195" "90" "1793" "0" "1793" "0" "c.1793T>G" "r.(?)" "p.(Leu598Arg)" "17" "0000222826" "00019195" "90" "1793" "0" "1793" "0" "c.1793T>G" "r.(?)" "p.(Leu598Arg)" "17" "0000222827" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "11i" "0000222828" "00019195" "90" "1666" "0" "1842" "-31" "c.1666_1842-31del" "r.spl?" "p.?" "16_17i" "0000222829" "00019195" "90" "1666" "0" "1842" "-31" "c.1666_1842-31del" "r.spl?" "p.?" "16_17i" "0000222830" "00019195" "90" "1591" "4020" "1591" "4021" "c.1591+4020_1591+4021ins[T;1453-5411_1591+4020]" "r.1453_1591dup" "p.Met532Cysfs*29" "14i_15i" "0000222831" "00019195" "90" "615" "1" "615" "1" "c.615+1G>C" "r.615_616ins[C;615+2_616-1]" "p.AlaValfs*7" "6i" "0000222832" "00019195" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184*)" "6" "0000222833" "00019195" "90" "1801" "0" "1801" "0" "c.1801G>T" "r.(?)" "p.(Glu601*)" "17" "0000222834" "00019195" "90" "615" "5" "615" "5" "c.615+5G>A" "r.0" "p.0" "6i" "0000222835" "00019195" "90" "1801" "0" "1801" "0" "c.1801G>A" "r.1601g>a" "p.Glu601Lys" "17" "0000222836" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.1638_1660dup" "p.Ala554Glyfs*17" "16" "0000222837" "00019195" "90" "1813" "0" "1813" "0" "c.1813C>T" "r.1813c>u" "p.Arg605*" "17" "0000222838" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.1019_1177del" "p.Ala340_Arg392del" "11i" "0000222841" "00019195" "90" "1799" "0" "1799" "0" "c.1799dup" "r.1799dup" "p.Tyr600*" "17" "0000222842" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.spl" "p.?" "13i" "0000249120" "00019195" "10" "1452" "19" "1452" "19" "c.1452+19del" "r.(=)" "p.(=)" "" "0000249121" "00019195" "10" "848" "28" "848" "28" "c.848+28del" "r.(=)" "p.(=)" "" "0000251695" "00019195" "30" "1452" "19" "1452" "19" "c.1452+19del" "r.(=)" "p.(=)" "" "0000298263" "00019195" "10" "328" "6" "328" "6" "c.328+6A>G" "r.(=)" "p.(=)" "" "0000302179" "00019195" "10" "1194" "0" "1194" "0" "c.1194A>G" "r.(?)" "p.(Leu398=)" "" "0000302180" "00019195" "10" "848" "8" "848" "8" "c.848+8G>T" "r.(=)" "p.(=)" "" "0000533142" "00019195" "50" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Gly283Glu)" "" "0000533144" "00019195" "50" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Val65Met)" "" "0000621959" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "" "0000652377" "00019195" "50" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Arg588Gln)" "" "0000683203" "00019195" "90" "615" "1" "615" "1" "c.615+1G>C" "r.spl" "p.?" "" "0000683204" "00019195" "90" "674" "0" "674" "0" "c.674C>A" "r.(?)" "p.(Ser225*)" "" "0000683205" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "" "0000683206" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "" "0000683219" "00019195" "90" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Gly531Asp)" "" "0000683220" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285Profs*2)" "" "0000683221" "00019195" "90" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360*)" "" "0000683222" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "" "0000683233" "00019195" "90" "15" "0" "15" "0" "c.15G>A" "r.spl" "p.?" "" "0000683234" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "" "0000684762" "00019195" "30" "2" "0" "2" "0" "c.2T>C" "r.?" "p.?" "" "0000803313" "00019195" "50" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Gly561Arg)" "" "0000803314" "00019195" "30" "1170" "0" "1170" "0" "c.1170G>T" "r.(?)" "p.(Leu390=)" "" "0000851730" "00019195" "30" "1374" "0" "1374" "0" "c.1374G>A" "r.(?)" "p.(Val458=)" "" "0000912835" "00019195" "30" "1680" "0" "1680" "0" "c.1680C>T" "r.(?)" "p.(Ser560=)" "" "0000917899" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "9" "0000917900" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4insN[(3000)]" "r.?" "p.(Ala584fs)" "16i" "0000917901" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "9" "0000917902" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "9" "0000917903" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "9" "0000917904" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "9" "0000917905" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "9" "0000917906" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "9" "0000917907" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "9" "0000917908" "00019195" "90" "1231" "0" "1231" "0" "c.1231G>A" "r.spl?" "p.(Val411Met)" "13" "0000917909" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "9" "0000917910" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "9" "0000917911" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.(?)" "p.(Ala554GlyfsTer17)" "19" "0000917912" "00019195" "90" "615" "5" "615" "5" "c.615+5G>A" "r.spl" "p.?" "5i" "0000917913" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4insN[(3000)]" "r.?" "p.(Ala584fs)" "16i" "0000917914" "00019195" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000917915" "00019195" "90" "135" "0" "135" "0" "c.135G>C" "r.(?)" "p.(Leu45Phe)" "3" "0000917916" "00019195" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Arg467Ter)" "14" "0000917917" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "11i" "0000917918" "00019195" "90" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Arg588Gln)" "17" "0000917919" "00019195" "50" "1956" "0" "1956" "0" "c.1956C>A" "r.(?)" "p.(Asn652Lys)" "18" "0000917920" "00019195" "90" "70" "-63" "133" "0" "c.70-63_133del" "r.spl" "p.(Tyr24Ilefs*11)" "2i_3" "0000917921" "00019195" "90" "1962" "0" "1962" "0" "c.1962del" "r.(?)" "p.(Phe654LeufsTer46)" "18" "0000917926" "00019195" "90" "1591" "4010" "1591" "4011" "c.1591+4010_1591+4011ins[T;1453-5411_1591+4010]" "r.1453_1591dup" "p.Met532Cysfs*29" "14i_15i" "0000917927" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917928" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917929" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917930" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917931" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917932" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917933" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917934" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917935" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917936" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917937" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917938" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.851_854del" "p.Met285ProfsTer2" "9" "0000917939" "00019195" "90" "1019" "0" "1177" "0" "c.1019_1177del" "r.1019_1177del" "p.Ala340_Arg392del" "11i" "0000917940" "00019195" "90" "1019" "0" "1177" "0" "c.1019_1177del" "r.1019_1177del" "p.Ala340_Arg392del" "11i" "0000917941" "00019195" "90" "1019" "0" "1177" "0" "c.1019_1177del" "r.1019_1177del" "p.Ala340_Arg392del" "11i" "0000917942" "00019195" "90" "1019" "0" "1177" "0" "c.1019_1177del" "r.1019_1177del" "p.Ala340_Arg392del" "11i" "0000917943" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.1638_1660dup" "p.Ala554GlyfsTer17" "16" "0000917944" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.1638_1660dup" "p.Ala554GlyfsTer17" "16" "0000917945" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.1638_1660dup" "p.Ala554GlyfsTer17" "16" "0000917946" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.1638_1660dup" "p.Ala554GlyfsTer17" "16" "0000917947" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.1638_1660dup" "p.Ala554GlyfsTer17" "16" "0000917948" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.1638_1660dup" "p.Ala554GlyfsTer17" "16" "0000917949" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.1638_1660dup" "p.Ala554GlyfsTer17" "16" "0000917950" "00019195" "90" "674" "0" "674" "0" "c.674C>A" "r.674c>a" "p.Ser225Ter" "7" "0000917951" "00019195" "90" "674" "0" "674" "0" "c.674C>A" "r.674c>a" "p.Ser225Ter" "7" "0000917952" "00019195" "90" "674" "0" "674" "0" "c.674C>A" "r.674c>a" "p.Ser225Ter" "7" "0000917953" "00019195" "90" "674" "0" "674" "0" "c.674C>A" "r.674c>a" "p.Ser225Ter" "7" "0000917954" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.1231_1311del" "p.Val411_Cys437del" "13i" "0000917955" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.1231_1311del" "p.Val411_Cys437del" "13i" "0000917956" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.1231_1311del" "p.Val411_Cys437del" "13i" "0000917957" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.1231_1311del" "p.Val411_Cys437del" "13i" "0000917958" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.1231_1311del" "p.Val411_Cys437del" "13i" "0000917959" "00019195" "90" "1311" "1" "1311" "1" "c.1311+1G>A" "r.1231_1311del" "p.Val411_Cys437del" "13i" "0000917960" "00019195" "90" "1799" "0" "1799" "0" "c.1799dup" "r.1799dup" "p.Tyr600Ter" "17" "0000917961" "00019195" "90" "1799" "0" "1799" "0" "c.1799dup" "r.1799dup" "p.Tyr600Ter" "17" "0000917962" "00019195" "90" "1799" "0" "1799" "0" "c.1799dup" "r.1799dup" "p.Tyr600Ter" "17" "0000917963" "00019195" "90" "1813" "0" "1813" "0" "c.1813C>T" "r.1813c>u" "p.Arg605Ter" "17" "0000917964" "00019195" "90" "1813" "0" "1813" "0" "c.1813C>T" "r.1813c>u" "p.Arg605Ter" "17" "0000917965" "00019195" "90" "1813" "0" "1813" "0" "c.1813C>T" "r.1813c>u" "p.Arg605Ter" "17" "0000917966" "00019195" "90" "1801" "0" "1801" "0" "c.1801G>T" "r.(1801g>u)" "p.(Glu601Ter)" "17" "0000917967" "00019195" "90" "1801" "0" "1801" "0" "c.1801G>T" "r.(1801g>u)" "p.(Glu601Ter)" "17" "0000917968" "00019195" "90" "1801" "0" "1801" "0" "c.1801G>A" "r.(1801g>a)" "p.(Glu601Lys)" "17" "0000917969" "00019195" "90" "1801" "0" "1801" "0" "c.1801G>A" "r.(1801g>a)" "p.(Glu601Lys)" "17" "0000917970" "00019195" "90" "615" "5" "615" "5" "c.615+5G>A" "r.0" "p.0" "6i" "0000917971" "00019195" "90" "615" "5" "615" "5" "c.615+5G>A" "r.0" "p.0" "6i" "0000917972" "00019195" "90" "550" "0" "550" "0" "c.550C>T" "r.(550c>u)" "p.(Arg184Ter)" "6" "0000917973" "00019195" "90" "615" "1" "615" "1" "c.615+1G>C" "r.615_616ins[c;615+2_616-1]" "p.Ala206LeufsTer7" "6i" "0000917974" "00019195" "90" "615" "1" "615" "1" "c.615+1G>C" "r.615_616ins[c;615+2_616-1]" "p.Ala206LeufsTer7" "6i" "0000917975" "00019195" "90" "1591" "4010" "1591" "4011" "c.1591+4010_1591+4011ins[T;1453-5411_1591+4010]" "r.(1453_1591dup)" "p.(Met532Cysfs*29)" "14i_15i" "0000917976" "00019195" "90" "1592" "0" "1592" "0" "c.1592G>A" "r.(1592g>a)" "p.(Gly531Asp)" "16" "0000917977" "00019195" "90" "1592" "0" "1592" "0" "c.1592G>A" "r.(1592g>a)" "p.(Gly531Asp)" "16" "0000917978" "00019195" "90" "1592" "0" "1592" "0" "c.1592G>A" "r.(1592g>a)" "p.(Gly531Asp)" "16" "0000917979" "00019195" "90" "1592" "0" "1592" "0" "c.1592G>A" "r.(1592g>a)" "p.(Gly531Asp)" "16" "0000917980" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000917981" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000917982" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000917983" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000917984" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000917985" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4ins[TTTTTTTTTTTTTTTTT;NM_138459.2:c.-194_*1573inv;C;1751-21_1751-5]" "r.1751_*971delins[NC_000007.13:g.118029055_118029746inv]" "p.Ala584ValfsTer2" "16i" "0000917986" "00019195" "90" "1666" "0" "1842" "-31" "c.1666_1842-31del" "r.spl" "p.?" "16_17i" "0000917987" "00019195" "90" "1666" "0" "1842" "-31" "c.1666_1842-31del" "r.spl" "p.?" "16_17i" "0000917988" "00019195" "90" "1793" "0" "1793" "0" "c.1793T>G" "r.1793u>g" "p.Leu598Arg" "17" "0000917989" "00019195" "70" "15" "0" "15" "0" "c.15G>A" "r.0" "p.0" "1" "0000917990" "00019195" "70" "15" "0" "15" "0" "c.15G>A" "r.0" "p.0" "1" "0000917991" "00019195" "90" "1189" "0" "1189" "0" "c.1189C>T" "r.1189c>u" "p.Gln397Ter" "12" "0000917992" "00019195" "90" "1465" "0" "1465" "0" "c.1465T>C" "r.1465u>c" "p.Cys489Arg" "15" "0000917993" "00019195" "90" "1078" "0" "1078" "0" "c.1078C>T" "r.1078c>u" "p.Arg360Ter" "11" "0000917994" "00019195" "90" "1177" "0" "1177" "0" "c.1177G>A" "r.spl?" "p.Gly393Ser" "11" "0000917995" "00019195" "90" "1177" "1" "1177" "1" "c.1177+1G>A" "r.spl" "p.?" "" "0000917996" "00019195" "90" "1666" "0" "1842" "-31" "c.1666_1842-31del" "r.?" "p.?" "16_17i" "0000917997" "00019195" "90" "1666" "0" "1842" "-31" "c.1666_1842-31del" "r.?" "p.?" "16_17i" "0000977916" "00019195" "30" "1671" "0" "1671" "0" "c.1671C>T" "r.(?)" "p.(Thr557=)" "" "0000988438" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "" "0000988439" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "" "0000988440" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "" "0000988441" "00019195" "90" "615" "5" "615" "5" "c.615+5G>A" "r.spl" "p.?" "" "0000988442" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "" "0000988443" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "" "0000988444" "00019195" "90" "1311" "4" "1311" "7" "c.1311+4_1311+7del" "r.spl" "p.?" "" "0000988445" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "" "0000988447" "00019195" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Gln214Ter)" "" "0000988448" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.(?)" "p.(Ala554GlyfsTer17)" "" "0000988449" "00019195" "90" "1638" "0" "1660" "0" "c.1638_1660dup" "r.(?)" "p.(Ala554GlyfsTer17)" "" "0000988450" "00019195" "90" "1762" "0" "1762" "0" "c.1762C>T" "r.(?)" "p.(Arg588Ter)" "" "0000988575" "00019195" "90" "1751" "-5" "1751" "-4" "c.1751-5_1751-4insN[(3000)]" "r.spl" "p.?" "" "0000988576" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "" "0000988577" "00019195" "70" "851" "0" "854" "0" "c.851_854del" "r.(?)" "p.(Met285ProfsTer2)" "" "0000988578" "00019195" "90" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360Ter)" "" "0000988579" "00019195" "70" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Arg467Ter)" "" "0001027776" "00019195" "90" "1751" "-12" "1751" "-11" "c.1751-5_1751-4insN[?]" "r.?" "p.?" "" "0001027777" "00019195" "90" "1751" "-12" "1751" "-11" "c.1751-5_1751-4insN[?]" "r.?" "p.?" "" "0001058267" "00019195" "90" "615" "5" "615" "5" "c.615+5G>A" "r.spl" "p.?" "" "0001058268" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "" "0001058289" "00019195" "90" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Met285ProfsTer2)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 246 "{{screeningid}}" "{{variantid}}" "0000112977" "0000181680" "0000112978" "0000181681" "0000112979" "0000181682" "0000112980" "0000181687" "0000112980" "0000181692" "0000112981" "0000181688" "0000112981" "0000181715" "0000112982" "0000181689" "0000112982" "0000181696" "0000112983" "0000181690" "0000112983" "0000181691" "0000112984" "0000181693" "0000112984" "0000181707" "0000112985" "0000181694" "0000112985" "0000181699" "0000112986" "0000181695" "0000112986" "0000181700" "0000112987" "0000181686" "0000112987" "0000181697" "0000112988" "0000181683" "0000112989" "0000181698" "0000112989" "0000181714" "0000112990" "0000181701" "0000112990" "0000181702" "0000112991" "0000181703" "0000112991" "0000181704" "0000112992" "0000181705" "0000112992" "0000181706" "0000112993" "0000181684" "0000112994" "0000181708" "0000112994" "0000181709" "0000112995" "0000181685" "0000112996" "0000181710" "0000112996" "0000181711" "0000112997" "0000181712" "0000112997" "0000181713" "0000133455" "0000222668" "0000133455" "0000222671" "0000133456" "0000222669" "0000133457" "0000222670" "0000133457" "0000222700" "0000133459" "0000222672" "0000133460" "0000222673" "0000133461" "0000222674" "0000133462" "0000222675" "0000133463" "0000222676" "0000133464" "0000222677" "0000133465" "0000222678" "0000133466" "0000222679" "0000133467" "0000222680" "0000133468" "0000222681" "0000133468" "0000222701" "0000133469" "0000222682" "0000133470" "0000222683" "0000133471" "0000222684" "0000133472" "0000222685" "0000133473" "0000222686" "0000133473" "0000222710" "0000133474" "0000222687" "0000133474" "0000222697" "0000133476" "0000222689" "0000133476" "0000222692" "0000133476" "0000222693" "0000133477" "0000222690" "0000133479" "0000222694" "0000133480" "0000222695" "0000133480" "0000222696" "0000133481" "0000222698" "0000133481" "0000222699" "0000133482" "0000222702" "0000133482" "0000222703" "0000133483" "0000222704" "0000133483" "0000222707" "0000133484" "0000222705" "0000133484" "0000222706" "0000133485" "0000222708" "0000133485" "0000222709" "0000133486" "0000222711" "0000133575" "0000222800" "0000133575" "0000222801" "0000133576" "0000222802" "0000133577" "0000222803" "0000133578" "0000222804" "0000133579" "0000222805" "0000133580" "0000222806" "0000133581" "0000222807" "0000133581" "0000222808" "0000133582" "0000222809" "0000133582" "0000222810" "0000133583" "0000222811" "0000133583" "0000222812" "0000133584" "0000222813" "0000133584" "0000222814" "0000133585" "0000222815" "0000133585" "0000222816" "0000133586" "0000222817" "0000133586" "0000222818" "0000133588" "0000222821" "0000133588" "0000222822" "0000133589" "0000222823" "0000133589" "0000222824" "0000133590" "0000222825" "0000133591" "0000222826" "0000133592" "0000222827" "0000133592" "0000222828" "0000133593" "0000222829" "0000133594" "0000222830" "0000133595" "0000222831" "0000133596" "0000222832" "0000133597" "0000222833" "0000133597" "0000222834" "0000133598" "0000222835" "0000133598" "0000222836" "0000133599" "0000222837" "0000133599" "0000222838" "0000133601" "0000222841" "0000133601" "0000222842" "0000295688" "0000652377" "0000308791" "0000683203" "0000308791" "0000683219" "0000308792" "0000683204" "0000308792" "0000683220" "0000308793" "0000683205" "0000308793" "0000683221" "0000308794" "0000683206" "0000308794" "0000683222" "0000308802" "0000683233" "0000308802" "0000683234" "0000309860" "0000684762" "0000432421" "0000917899" "0000432422" "0000917900" "0000432423" "0000917901" "0000432423" "0000917911" "0000432424" "0000917902" "0000432424" "0000917912" "0000432425" "0000917903" "0000432425" "0000917913" "0000432426" "0000917904" "0000432426" "0000917914" "0000432427" "0000917905" "0000432427" "0000917915" "0000432428" "0000917906" "0000432428" "0000917916" "0000432429" "0000917907" "0000432429" "0000917917" "0000432430" "0000917908" "0000432430" "0000917918" "0000432431" "0000917909" "0000432431" "0000917919" "0000432431" "0000917921" "0000432432" "0000917910" "0000432432" "0000917920" "0000432435" "0000917926" "0000432436" "0000917927" "0000432437" "0000917928" "0000432438" "0000917929" "0000432439" "0000917930" "0000432440" "0000917931" "0000432441" "0000917932" "0000432442" "0000917933" "0000432443" "0000917934" "0000432444" "0000917935" "0000432445" "0000917936" "0000432446" "0000917937" "0000432447" "0000917938" "0000432448" "0000917939" "0000432449" "0000917940" "0000432450" "0000917941" "0000432451" "0000917942" "0000432452" "0000917943" "0000432453" "0000917944" "0000432454" "0000917945" "0000432455" "0000917946" "0000432456" "0000917947" "0000432457" "0000917948" "0000432458" "0000917949" "0000432459" "0000917950" "0000432460" "0000917951" "0000432461" "0000917952" "0000432462" "0000917953" "0000432463" "0000917954" "0000432464" "0000917955" "0000432465" "0000917956" "0000432466" "0000917957" "0000432467" "0000917958" "0000432468" "0000917959" "0000432469" "0000917960" "0000432470" "0000917961" "0000432471" "0000917962" "0000432472" "0000917963" "0000432473" "0000917964" "0000432474" "0000917965" "0000432475" "0000917966" "0000432476" "0000917967" "0000432477" "0000917968" "0000432478" "0000917969" "0000432479" "0000917970" "0000432480" "0000917971" "0000432481" "0000917972" "0000432482" "0000917973" "0000432483" "0000917974" "0000432484" "0000917975" "0000432485" "0000917976" "0000432486" "0000917977" "0000432487" "0000917978" "0000432488" "0000917979" "0000432489" "0000917980" "0000432490" "0000917981" "0000432491" "0000917982" "0000432492" "0000917983" "0000432493" "0000917984" "0000432494" "0000917985" "0000432495" "0000917986" "0000432496" "0000917987" "0000432497" "0000917988" "0000432498" "0000917989" "0000432499" "0000917990" "0000432500" "0000917991" "0000432501" "0000917992" "0000432502" "0000917993" "0000432503" "0000917994" "0000432504" "0000917995" "0000432504" "0000917996" "0000432505" "0000917997" "0000453690" "0000988438" "0000453691" "0000988439" "0000453692" "0000988440" "0000453693" "0000988441" "0000453693" "0000988447" "0000453694" "0000988442" "0000453694" "0000988448" "0000453695" "0000988443" "0000453695" "0000988449" "0000453696" "0000988444" "0000453696" "0000988450" "0000453697" "0000988445" "0000453813" "0000988575" "0000453814" "0000988576" "0000453815" "0000988577" "0000453816" "0000988578" "0000453817" "0000988579" "0000464110" "0001027776" "0000464110" "0001027777" "0000470180" "0001058267" "0000470180" "0001058289" "0000470181" "0001058268"