### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALDOB) # 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}}" "ALDOB" "aldolase B, fructose-bisphosphate" "9" "q21.3-q22.2" "unknown" "NG_012387.1" "UD_132118942761" "" "https://www.LOVD.nl/ALDOB" "Hereditary Fructose Intolerance & Aldolase database " "1" "417" "229" "612724" "1" "1" "1" "1" "All data of the HFI database are included here.\r\nThe establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ALDOB_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2021-01-11 13:50:23" "00006" "2025-11-13 13:04:16" ## 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}}" "00000092" "ALDOB" "aldolase B, fructose-bisphosphate" "001" "NM_000035.3" "" "NP_000026.2" "" "" "" "-82" "2344" "1095" "104198062" "104182842" "00002" "2012-05-11 13:12:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01794" "HFI" "fructose intolerance, hereditary (HFI)" "AR" "229600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-24 17:50:42" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ALDOB" "01794" ## Individuals ## Do not remove or alter this header ## ## Count = 208 "{{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}}" "00000057" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00081029" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00294702" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294703" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294704" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294705" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00326213" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326214" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326215" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326216" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326217" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326218" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326219" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Yugoslavia" "" "0" "" "" "" "patient" "00326220" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Italy" "" "0" "" "" "Sicily" "patient" "00326221" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "Fam6" "00326222" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "Fam2" "00326223" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "Fam4" "00326224" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "Fam5" "00326225" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "family, affected twins" "" "" "France" "" "0" "" "" "" "Fam7" "00326226" "" "" "" "3" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "family, 3 affected sibs" "F;M" "" "France" "" "0" "" "" "" "Fam8" "00326227" "" "" "" "2" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "family, affected twins" "" "" "France" "" "0" "" "" "" "Fam9" "00326228" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "Fam10" "00326229" "" "" "" "1" "" "00006" "{PMID:Dazzo 1990:2339710}" "2-generation family, 1 affected, unaffected parents" "F" "" "United States" "" "0" "" "" "" "FamPatII1" "00326230" "" "" "" "1" "" "00006" "{PMID:Sebastio 1991:1856829}" "" "" "" "Italy" "" "0" "" "" "" "Pat1" "00326231" "" "" "" "1" "" "00006" "{PMID:Sebastio 1991:1856829}" "" "" "" "Italy" "" "0" "" "" "" "Pat5" "00326232" "" "" "" "1" "" "00006" "{PMID:Sebastio 1991:1856829}" "" "" "" "Italy" "" "0" "" "" "" "Pat9" "00326233" "" "" "" "1" "" "00006" "{PMID:Ali 1994:8071980}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "Europe;Cherokee/Karok indian" "patient" "00326234" "" "" "" "2" "" "00006" "{PMID:Ali 1994:8071980}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "" "Austria" "" "0" "" "" "" "patient" "00326235" "" "" "" "1" "" "00006" "{PMID:Ali 1994:8071980}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "" "patient" "00326236" "" "" "" "1" "" "00006" "{PMID:Santamaria 1999:10352930}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "patient" "00326237" "" "" "" "10" "" "00006" "{PMID:Ali 1995:7717389}" "5-generation family, 10 affected (5F, 5M)" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1PatIII20/21/22/23" "00326238" "" "" "" "1" "" "00006" "{PMID:Ali 1995:7717389}" "5-generation family, 10 affected (5F, 5M)" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamPatIV1" "00326239" "" "" "" "5" "" "00006" "{PMID:Ali 1995:7717389}" "5-generation family, 10 affected (5F, 5M)" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1PatIII33/34/35/36/IV16" "00326240" "" "" "" "1" "" "00006" "{PMID:Cross 1990:2349937}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatF13" "00326241" "" "" "" "1" "" "00006" "{PMID:Cross 1990:2349937}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG10" "00326242" "" "" "" "2" "" "00006" "{PMID:Esposito 2010:20848650}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "FamPatSR" "00326243" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "2-generation family, affected parent" "F" "" "Italy" "" "0" "" "" "" "FamPat" "00326244" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326245" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326246" "" "" "" "1" "" "00006" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "F" "" "Italy" "" "0" "" "" "" "patient" "00326247" "" "" "" "1" "" "00006" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326248" "" "" "" "1" "" "00006" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326249" "" "" "" "1" "" "00006" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326250" "" "" "" "1" "" "00006" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326251" "" "" "" "1" "" "00006" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326252" "" "" "" "1" "" "00006" "{PMID:Santamaria 1996:8880583}" "" "" "" "Italy" "" "0" "" "" "" "Pat8" "00326253" "" "" "" "1" "" "00006" "{PMID:Santamaria 1996:8880583}" "" "" "" "Italy" "" "0" "" "" "" "Pat9" "00326254" "" "" "" "1" "" "00006" "{PMID:Santamaria 1996:8880583}" "" "" "" "Italy" "" "0" "" "" "" "Pat11" "00326255" "" "" "" "1" "" "00006" "{PMID:Santamaria 1996:8880583}" "" "" "" "Italy" "" "0" "" "" "" "Pat12" "00326256" "" "" "" "1" "" "00006" "{PMID:Ali 1998:9610797}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326257" "" "" "" "1" "" "00006" "{PMID:Ali 1998:9610797}" "" "" "" "Finland" "" "0" "" "" "" "patient" "00326258" "" "" "" "2" "" "00006" "{PMID:Ali 1994:8162030}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "family" "00326259" "" "" "" "1" "" "00006" "{PMID:Brooks 1994:8299883}" "" "" "" "United States" "" "0" "" "" "" "patient" "00326260" "" "" "" "2" "" "00006" "{PMID:Ali 1996:8829634}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "" "" "New Zealand" "" "0" "" "" "" "patient" "00326261" "" "" "" "1" "" "00006" "{PMID:Santamaria 1996:8880583}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "Pat3" "00326262" "" "" "" "1" "" "00006" "{PMID:Santamaria 1996:8880583}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "patient" "00326263" "" "" "" "1" "" "00006" "{PMID:Santamaria 1996:8880583}" "" "" "" "Italy" "" "0" "" "" "" "Pat5" "00326264" "" "" "" "2" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "2-generation family, 2 affected" "" "" "Spain" "" "0" "" "" "" "Fam1" "00326265" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam3" "00326266" "" "" "" "2" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "2-generation family, 2 affected" "" "" "Spain" "" "0" "" "" "" "Fam8" "00326267" "" "" "" "2" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "2-generation family, 2 affected" "" "" "Spain" "" "0" "" "" "" "Fam11" "00326268" "" "" "" "2" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "2-generation family, 2 affected" "" "" "Spain" "" "0" "" "" "" "Fam16" "00326269" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam17" "00326270" "" "" "" "3" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "2-generation family, 3 affected" "" "" "Spain" "" "0" "" "" "" "Fam18" "00326271" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam71F" "00326272" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam468F" "00326273" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam529F" "00326274" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "2-generation family, father A150P homozygot" "" "" "Germany" "" "0" "" "" "Europe Central" "" "00326275" "" "" "" "1" "" "00006" "{PMID:Gruchota 2006:16406649}" "family" "" "" "Poland" "" "0" "" "" "" "" "00326276" "" "" "" "1" "" "00006" "{PMID:Gruchota 2006:16406649}" "family" "" "" "Poland" "" "0" "" "" "" "" "00326277" "" "" "" "1" "" "00006" "{PMID:Gruchota 2006:16406649}" "family" "" "" "Poland" "" "0" "" "" "" "" "00326278" "" "" "" "1" "" "00006" "{PMID:Gruchota 2006:16406649}" "family" "" "" "Poland" "" "0" "" "" "" "" "00326279" "" "" "" "1" "" "00006" "{PMID:Gruchota 2006:16406649}" "family" "" "" "Poland" "" "0" "" "" "" "" "00326280" "" "" "" "1" "" "00006" "{PMID:Gruchota 2006:16406649}" "family" "" "" "Poland" "" "0" "" "" "" "" "00326281" "" "" "" "1" "" "00006" "{PMID:Gruchota 2006:16406649}" "family" "" "" "Poland" "" "0" "" "" "" "" "00326282" "" "" "" "1" "" "00006" "{PMID:Coffee 2010:20882353}" "Pat50" "" "" "United States" "" "0" "" "" "white" "" "00326283" "" "" "" "1" "" "00006" "{PMID:Coffee 2010:20882353}" "Pat278" "" "" "United States" "" "0" "" "" "white, Hispanic" "" "00326284" "" "" "" "1" "" "00006" "{PMID:Coffee 2010:20882353}" "Pat295" "" "" "United States" "" "0" "" "" "Hispanic, African American" "" "00326285" "" "" "" "1" "" "00006" "{PMID:Coffee 2010:20882353}" "Pat284" "" "" "United States" "" "0" "" "" "African American" "" "00326286" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patient" "00326287" "" "" "" "2" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patients" "00326288" "" "" "" "2" "" "00006" "{PMID:Santer 2005:15880727}" "" "" "" "" "" "0" "" "" "Europe Central" "" "00326289" "" "" "" "2" "" "00006" "{PMID:Santer 2005:15880727}" "" "" "" "" "" "0" "" "" "Europe Central" "" "00326290" "" "" "" "11" "" "00006" "{PMID:Santer 2005:15880727}" "" "" "" "" "" "0" "" "" "Europe Central" "" "00326291" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "family" "F" "" "Germany" "" "0" "" "" "Europe Central" "" "00326292" "" "" "" "2" "" "00006" "{PMID:Esposito 2010:20848650}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326293" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Italy" "" "0" "" "" "Sicily" "patient" "00326294" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patient" "00326295" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patient" "00326296" "" "" "" "2" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patients" "00326297" "" "" "" "2" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patients" "00326298" "" "" "" "1" "" "00006" "{PMID:Cross 1990:2349937}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG12" "00326299" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam2" "00326300" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam5" "00326301" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam6" "00326302" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam7" "00326303" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam12" "00326304" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam13" "00326305" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam19" "00326306" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam210F" "00326307" "" "" "" "2" "" "00006" "{PMID:Santer 2005:15880727}" "family" "M" "" "Turkey" "" "0" "" "" "Europe Central" "" "00326308" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00326309" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00326310" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00326311" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "France" "" "0" "" "" "" "patient" "00326312" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326313" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326314" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "United States" "" "0" "" "" "" "patient" "00326315" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326316" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326317" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patient" "00326318" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patient" "00326319" "" "" "" "23" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patients" "00326320" "" "" "" "12" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patients" "00326321" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patient" "00326322" "" "" "" "1" "" "00006" "{PMID:Cross 1990:2336380}" "" "" "" "Yugoslavia" "" "0" "" "" "" "PatY5" "00326323" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "" "" "" "Italy" "" "0" "" "" "" "PatCL" "00326324" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "" "" "" "Italy" "" "0" "" "" "" "PatAB" "00326325" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326326" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326327" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326328" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326329" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326330" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326331" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326332" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326333" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326334" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326335" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326336" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326337" "" "" "" "1" "" "00006" "{PMID:Esposito 2010:20848650}" "analysis 122 patients" "" "" "Italy" "" "0" "" "" "" "patient" "00326338" "" "" "" "1" "" "00006" "{PMID:Ali 1993:8438046}" "" "F" "" "Germany" "" "0" "" "" "Italy" "patient" "00326339" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "family" "F" "" "Germany" "" "0" "" "" "Europe Central" "" "00326340" "" "" "" "4" "" "00006" "{PMID:Santer 2005:15880727}" "" "" "" "" "" "0" "" "" "Europe Central" "" "00326341" "" "" "" "93" "" "00006" "{PMID:Santer 2005:15880727}" "" "" "" "" "" "0" "" "" "Europe Central" "" "00326342" "" "" "" "16" "" "00006" "{PMID:Santer 2005:15880727}" "" "" "" "" "" "0" "" "" "Europe Central" "" "00326343" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "family" "" "" "Switzerland" "" "0" "" "" "Europe Central" "" "00326344" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "" "" "" "" "" "0" "" "" "Europe Central" "" "00326345" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "family" "F" "" "Germany" "" "0" "" "" "Europe Central" "" "00326346" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "family" "F" "" "Germany" "" "0" "" "" "Europe Central" "" "00326347" "" "" "" "17" "" "00006" "{PMID:Santer 2005:15880727}" "analysis 2000 healthy newborns" "" "" "" "" "0" "" "" "Europe Central" "" "00326348" "" "" "" "3" "" "00006" "{PMID:Santer 2005:15880727}" "analysis 2000 healthy newborns" "" "" "" "" "0" "" "" "Europe Central" "" "00326349" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "analysis 2000 healthy newborns" "" "" "" "" "0" "" "" "Europe Central" "" "00326350" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "analysis 2000 healthy newborns" "" "" "" "" "0" "" "" "Europe Central" "" "00326351" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "analysis 2000 healthy newborns" "" "" "" "" "0" "" "" "Europe Central" "" "00326352" "" "" "" "1" "" "00006" "{PMID:Santer 2005:15880727}" "analysis 2000 healthy newborns" "" "" "" "" "0" "" "" "Europe Central" "" "00326353" "" "" "" "1" "" "00006" "{PMID:Gruchota 2006:16406649}" "family" "" "" "Poland" "" "0" "" "" "" "" "00326354" "" "" "" "1" "" "00006" "{PMID:Coffee 2010:20882353}" "Pat34" "" "" "Germany" "" "0" "" "" "white" "" "00326355" "" "" "" "1" "" "00006" "{PMID:Coffee 2010:20882353}" "Pat249" "" "" "United States" "" "0" "" "" "white, Hispanic" "" "00326356" "" "" "" "1" "" "00006" "{PMID:Ali 1993:8438046}" "" "" "" "" "" "0" "" "" "" "patient" "00326357" "" "" "" "1" "" "00006" "{PMID:Santamaria 2000:10970798}" "2-generation consanguineaousfamily, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "patient" "00326358" "" "" "" "2" "" "00006" "{PMID:Cross 1988:3383242}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00326359" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00326360" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00326361" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00326362" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00326363" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00326364" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00326365" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00326366" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "France" "" "0" "" "" "" "patient" "00326367" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "France" "" "0" "" "" "" "patient" "00326368" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "France" "" "0" "" "" "" "patient" "00326369" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "France" "" "0" "" "" "" "patient" "00326370" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "France" "" "0" "" "" "" "patient" "00326371" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "France" "" "0" "" "" "" "patient" "00326372" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326373" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326374" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326375" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326376" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326377" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326378" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326379" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "Italy" "" "0" "" "" "Sicily" "patient" "00326380" "" "" "" "1" "" "00006" "{PMID:Cross 1988:3383242}" "" "" "" "United States" "" "0" "" "" "" "patient" "00326381" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Switzerland" "" "0" "" "" "" "patient" "00326382" "" "" "" "1" "" "00006" "{PMID:Cross 1990:1967768}" "" "" "" "Italy" "" "0" "" "" "Sicily" "patient" "00326383" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "Fam1" "00326384" "" "" "" "1" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "Fam3" "00326385" "" "" "" "44" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patients" "00326386" "" "" "" "8" "" "00006" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "France" "" "0" "" "" "" "patients" "00326387" "" "" "" "2" "" "00006" "{PMID:Kajihara 1990:2203259}" "2-generation family, 2 affected sisters" "F" "" "Japan" "" "0" "" "" "" "patient" "00326388" "" "" "" "1" "" "00006" "{PMID:Cross 1990:2336380}" "" "" "" "Yugoslavia" "" "0" "" "" "" "PatY3" "00326389" "" "" "" "1" "" "00006" "{PMID:Cross 1990:2336380}" "" "" "" "Yugoslavia" "" "0" "" "" "" "PatY4" "00326390" "" "" "" "1" "" "00006" "{PMID:Cross 1990:2336380}" "" "" "" "Yugoslavia" "" "0" "" "" "" "PatY6" "00326391" "" "" "" "1" "" "00006" "{PMID:Sebastio 1991:1856829}" "" "" "" "Italy" "" "0" "" "" "" "Pat2" "00326392" "" "" "" "1" "" "00006" "{PMID:Sebastio 1991:1856829}" "" "" "" "Italy" "" "0" "" "" "" "Pat3" "00326393" "" "" "" "1" "" "00006" "{PMID:Sebastio 1991:1856829}" "" "" "" "Italy" "" "0" "" "" "" "Pat4" "00326394" "" "" "" "1" "" "00006" "{PMID:Sebastio 1991:1856829}" "" "" "" "Italy" "" "0" "" "" "" "Pat6" "00326395" "" "" "" "1" "" "00006" "{PMID:Sebastio 1991:1856829}" "" "" "" "Italy" "" "0" "" "" "" "Pat7" "00326396" "" "" "" "1" "" "00006" "{PMID:Sebastio 1991:1856829}" "" "" "" "Italy" "" "0" "" "" "" "Pat8" "00326397" "" "" "" "1" "" "00006" "{PMID:Sebastio 1991:1856829}" "" "" "" "Italy" "" "0" "" "" "" "Pat11" "00326398" "" "" "" "10" "" "00006" "{PMID:Ali 1994:8071980}" "large consanguineous family, 10 affected (5F, 5M)" "F;M" "" "Turkey" "" "0" "" "" "" "family" "00326399" "" "" "" "1" "" "00006" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00326400" "" "" "" "1" "" "00006" "{PMID:Tolan 1995:8535439}, Cox ASHG1991" "" "" "" "Turkey" "" "0" "" "" "" "patient" "00326401" "" "" "" "1" "" "00006" "{PMID:Santamaria 1996:8880583}" "" "" "" "Italy" "" "0" "" "" "" "Pat10" "00326402" "" "" "" "1" "" "00006" "{PMID:Santamaria 1996:8880583}" "" "" "" "Italy" "" "0" "" "" "" "Pat7" "00326403" "" "" "" "1" "" "00006" "{PMID:Relos 1999:10229688}" "2-generation consanguineaousfamily, 1 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "" "" "patient" "00326404" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam476F" "00326405" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam663F" "00326406" "" "" "" "1" "" "00006" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "" "" "Spain" "" "0" "" "" "" "Fam717F" "00326407" "" "" "" "2" "" "00006" "{PMID:Santer 2005:15880727}" "family" "M" "" "Turkey" "" "0" "" "" "Europe Central" "" "00326408" "" "" "" "13" "" "00006" "{PMID:Gruchota 2006:16406649}" "families" "" "" "Poland" "" "0" "" "" "" "" "00326409" "" "" "" "1" "" "00006" "{PMID:Gruchota 2006:16406649}" "family" "" "" "Poland" "" "0" "" "" "" "" "00326410" "" "" "" "1" "" "00006" "{PMID:Gruchota 2006:16406649}" "family" "" "" "Poland" "" "0" "" "" "" "" "00380782" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00415257" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "12" "00426969" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" "00468603" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 207 "{{individualid}}" "{{diseaseid}}" "00081029" "01794" "00294702" "00198" "00294703" "00198" "00294704" "00198" "00294705" "00198" "00326213" "01794" "00326214" "01794" "00326215" "01794" "00326216" "01794" "00326217" "01794" "00326218" "01794" "00326219" "01794" "00326220" "01794" "00326221" "01794" "00326222" "01794" "00326223" "01794" "00326224" "01794" "00326225" "01794" "00326226" "01794" "00326227" "01794" "00326228" "01794" "00326229" "01794" "00326230" "01794" "00326231" "01794" "00326232" "01794" "00326233" "01794" "00326234" "01794" "00326235" "01794" "00326236" "01794" "00326237" "01794" "00326238" "01794" "00326239" "01794" "00326240" "01794" "00326241" "01794" "00326242" "01794" "00326243" "01794" "00326244" "01794" "00326245" "01794" "00326246" "01794" "00326247" "01794" "00326248" "01794" "00326249" "01794" "00326250" "01794" "00326251" "01794" "00326252" "01794" "00326253" "01794" "00326254" "01794" "00326255" "01794" "00326256" "01794" "00326257" "01794" "00326258" "01794" "00326259" "01794" "00326260" "01794" "00326261" "01794" "00326262" "01794" "00326263" "01794" "00326264" "01794" "00326265" "01794" "00326266" "01794" "00326267" "01794" "00326268" "01794" "00326269" "01794" "00326270" "01794" "00326271" "01794" "00326272" "01794" "00326273" "01794" "00326274" "01794" "00326275" "01794" "00326276" "01794" "00326277" "01794" "00326278" "01794" "00326279" "01794" "00326280" "01794" "00326281" "01794" "00326282" "01794" "00326283" "01794" "00326284" "01794" "00326285" "01794" "00326286" "01794" "00326287" "01794" "00326288" "01794" "00326289" "01794" "00326290" "01794" "00326291" "01794" "00326292" "01794" "00326293" "01794" "00326294" "01794" "00326295" "01794" "00326296" "01794" "00326297" "01794" "00326298" "01794" "00326299" "01794" "00326300" "01794" "00326301" "01794" "00326302" "01794" "00326303" "01794" "00326304" "01794" "00326305" "01794" "00326306" "01794" "00326307" "01794" "00326308" "01794" "00326309" "01794" "00326310" "01794" "00326311" "01794" "00326312" "01794" "00326313" "01794" "00326314" "01794" "00326315" "01794" "00326316" "01794" "00326317" "01794" "00326318" "01794" "00326319" "01794" "00326320" "01794" "00326321" "01794" "00326322" "01794" "00326323" "01794" "00326324" "01794" "00326325" "01794" "00326326" "01794" "00326327" "01794" "00326328" "01794" "00326329" "01794" "00326330" "01794" "00326331" "01794" "00326332" "01794" "00326333" "01794" "00326334" "01794" "00326335" "01794" "00326336" "01794" "00326337" "01794" "00326338" "01794" "00326339" "01794" "00326340" "01794" "00326341" "01794" "00326342" "01794" "00326343" "01794" "00326344" "01794" "00326345" "01794" "00326346" "01794" "00326347" "01794" "00326348" "01794" "00326349" "01794" "00326350" "01794" "00326351" "01794" "00326352" "01794" "00326353" "01794" "00326354" "01794" "00326355" "01794" "00326356" "01794" "00326357" "01794" "00326358" "01794" "00326359" "01794" "00326360" "01794" "00326361" "01794" "00326362" "01794" "00326363" "01794" "00326364" "01794" "00326365" "01794" "00326366" "01794" "00326367" "01794" "00326368" "01794" "00326369" "01794" "00326370" "01794" "00326371" "01794" "00326372" "01794" "00326373" "01794" "00326374" "01794" "00326375" "01794" "00326376" "01794" "00326377" "01794" "00326378" "01794" "00326379" "01794" "00326380" "01794" "00326381" "01794" "00326382" "01794" "00326383" "01794" "00326384" "01794" "00326385" "01794" "00326386" "01794" "00326387" "01794" "00326388" "01794" "00326389" "01794" "00326390" "01794" "00326391" "01794" "00326392" "01794" "00326393" "01794" "00326394" "01794" "00326395" "01794" "00326396" "01794" "00326397" "01794" "00326398" "01794" "00326399" "01794" "00326400" "01794" "00326401" "01794" "00326402" "01794" "00326403" "01794" "00326404" "01794" "00326405" "01794" "00326406" "01794" "00326407" "01794" "00326408" "01794" "00326409" "01794" "00326410" "01794" "00380782" "01794" "00415257" "04214" "00426969" "00000" "00468603" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01794, 04214 ## Count = 202 "{{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}}" "0000060598" "01794" "00081029" "01758" "Familial, autosomal recessive" "" "Fructose intolerance (OMIM:229600)" "" "" "" "" "" "" "" "" "" "" "" "0000244674" "01794" "00326213" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244675" "01794" "00326214" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244676" "01794" "00326215" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244677" "01794" "00326216" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244678" "01794" "00326217" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244679" "01794" "00326218" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244680" "01794" "00326219" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244681" "01794" "00326220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244682" "01794" "00326221" "00006" "Familial, autosomal recessive" "" "familial history of HFI, brother died after sucrose infusion" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244683" "01794" "00326222" "00006" "Familial, autosomal recessive" "" "aversion for sweet, vomiting after milk with sucrose jaundice, liver failure" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244684" "01794" "00326223" "00006" "Familial, autosomal recessive" "" "vomiting after milk with fructose hepatomegaly, elevated liver transaminases" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244685" "01794" "00326224" "00006" "Familial, autosomal recessive" "" "vomiting after orange juice aversion for sucrose milk, hepatomegaly" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244686" "01794" "00326225" "00006" "Familial, autosomal recessive" "" "aversion for sweet, hepatomegaly, diarrhea treated with oral sucrose formula: hypoglycaemia, elevated liver transaminases" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244687" "01794" "00326226" "00006" "Familial, autosomal recessive" "" "aversion for sweet, hepatomegaly, fatty liver" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244688" "01794" "00326227" "00006" "Familial, autosomal recessive" "" "aversion for sweet, hypoglycemia after oral sucrose formula" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244689" "01794" "00326228" "00006" "Familial, autosomal recessive" "" "vomiting after sucrose food, hepatomegaly, elevated liver transaminases" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244690" "01794" "00326229" "00006" "Familial, autosomal recessive" "" "abdominal pain, indigestion, lassitude, intolerant sweet foods/fruits" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244691" "01794" "00326230" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244692" "01794" "00326231" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244693" "01794" "00326232" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244694" "01794" "00326233" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244695" "01794" "00326234" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244696" "01794" "00326235" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244697" "01794" "00326236" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244698" "01794" "00326237" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244699" "01794" "00326238" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244700" "01794" "00326239" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244701" "01794" "00326240" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244702" "01794" "00326241" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244703" "01794" "00326242" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244704" "01794" "00326243" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244705" "01794" "00326244" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244706" "01794" "00326245" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244707" "01794" "00326246" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244708" "01794" "00326247" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244709" "01794" "00326248" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244710" "01794" "00326249" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244711" "01794" "00326250" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244712" "01794" "00326251" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244713" "01794" "00326252" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244714" "01794" "00326253" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244715" "01794" "00326254" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244716" "01794" "00326255" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244717" "01794" "00326256" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244718" "01794" "00326257" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244719" "01794" "00326258" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244720" "01794" "00326259" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244721" "01794" "00326260" "00006" "Familial, autosomal recessive" "" "weaning difficulties, hypoglycaemic symptoms, dietary intolerance, lack of dental caries" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244722" "01794" "00326261" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244723" "01794" "00326262" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244724" "01794" "00326263" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244725" "01794" "00326264" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244726" "01794" "00326265" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244727" "01794" "00326266" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244728" "01794" "00326267" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244729" "01794" "00326268" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244730" "01794" "00326269" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244731" "01794" "00326270" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244732" "01794" "00326271" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244733" "01794" "00326272" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244734" "01794" "00326273" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244735" "01794" "00326274" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244736" "01794" "00326275" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244737" "01794" "00326276" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244738" "01794" "00326277" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244739" "01794" "00326278" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244740" "01794" "00326279" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244741" "01794" "00326280" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244742" "01794" "00326281" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244743" "01794" "00326282" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244744" "01794" "00326283" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244745" "01794" "00326284" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244746" "01794" "00326285" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244747" "01794" "00326286" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244748" "01794" "00326287" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244749" "01794" "00326288" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244750" "01794" "00326289" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244751" "01794" "00326290" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244752" "01794" "00326291" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244753" "01794" "00326292" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244754" "01794" "00326293" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244755" "01794" "00326294" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244756" "01794" "00326295" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244757" "01794" "00326296" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244758" "01794" "00326297" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244759" "01794" "00326298" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244760" "01794" "00326299" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244761" "01794" "00326300" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244762" "01794" "00326301" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244763" "01794" "00326302" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244764" "01794" "00326303" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244765" "01794" "00326304" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244766" "01794" "00326305" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244767" "01794" "00326306" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244768" "01794" "00326307" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244769" "01794" "00326308" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244770" "01794" "00326309" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244771" "01794" "00326310" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244772" "01794" "00326311" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244773" "01794" "00326312" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244774" "01794" "00326313" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244775" "01794" "00326314" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244776" "01794" "00326315" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244777" "01794" "00326316" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244778" "01794" "00326317" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244779" "01794" "00326318" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244780" "01794" "00326319" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244781" "01794" "00326320" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244782" "01794" "00326321" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244783" "01794" "00326322" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244784" "01794" "00326323" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244785" "01794" "00326324" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244786" "01794" "00326325" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244787" "01794" "00326326" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244788" "01794" "00326327" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244789" "01794" "00326328" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244790" "01794" "00326329" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244791" "01794" "00326330" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244792" "01794" "00326331" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244793" "01794" "00326332" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244794" "01794" "00326333" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244795" "01794" "00326334" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244796" "01794" "00326335" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244797" "01794" "00326336" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244798" "01794" "00326337" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244799" "01794" "00326338" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244800" "01794" "00326339" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244801" "01794" "00326340" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244802" "01794" "00326341" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244803" "01794" "00326342" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244804" "01794" "00326343" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244805" "01794" "00326344" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244806" "01794" "00326345" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244807" "01794" "00326346" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244808" "01794" "00326347" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244809" "01794" "00326348" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244810" "01794" "00326349" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244811" "01794" "00326350" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244812" "01794" "00326351" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244813" "01794" "00326352" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244814" "01794" "00326353" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244815" "01794" "00326354" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244816" "01794" "00326355" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244817" "01794" "00326356" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244818" "01794" "00326357" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244819" "01794" "00326358" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244820" "01794" "00326359" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244821" "01794" "00326360" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244822" "01794" "00326361" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244823" "01794" "00326362" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244824" "01794" "00326363" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244825" "01794" "00326364" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244826" "01794" "00326365" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244827" "01794" "00326366" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244828" "01794" "00326367" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244829" "01794" "00326368" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244830" "01794" "00326369" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244831" "01794" "00326370" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244832" "01794" "00326371" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244833" "01794" "00326372" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244834" "01794" "00326373" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244835" "01794" "00326374" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244836" "01794" "00326375" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244837" "01794" "00326376" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244838" "01794" "00326377" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244839" "01794" "00326378" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244840" "01794" "00326379" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244841" "01794" "00326380" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244842" "01794" "00326381" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244843" "01794" "00326382" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244844" "01794" "00326383" "00006" "Familial, autosomal recessive" "" "aversion for sweet, vomiting after sucrose food, fatty liver, no dental caries" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244845" "01794" "00326384" "00006" "Familial, autosomal recessive" "" "aversion for sweet, hepatomegaly, diarrhea treated with oral sucrose formula: hypoglycaemia, elevated liver transaminases" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244846" "01794" "00326385" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244847" "01794" "00326386" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244848" "01794" "00326387" "00006" "Familial, autosomal recessive" "" "vomiting, appetite loss,abdominal fullness" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244849" "01794" "00326388" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244850" "01794" "00326389" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244851" "01794" "00326390" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244852" "01794" "00326391" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244853" "01794" "00326392" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244854" "01794" "00326393" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244855" "01794" "00326394" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244856" "01794" "00326395" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244857" "01794" "00326396" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244858" "01794" "00326397" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244859" "01794" "00326398" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244860" "01794" "00326399" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244861" "01794" "00326400" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244862" "01794" "00326401" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244863" "01794" "00326402" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244864" "01794" "00326403" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244865" "01794" "00326404" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244866" "01794" "00326405" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244867" "01794" "00326406" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244868" "01794" "00326407" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244869" "01794" "00326408" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244870" "01794" "00326409" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000244871" "01794" "00326410" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HFI" "fructose intolerance" "" "0000274635" "01794" "00380782" "00000" "Familial" "" "Failure to thrive; lactic acidosis; gastrointestinal problems (Neurological)" "" "" "" "" "" "" "" "" "Fructose intolerance" "" "" "0000307055" "04214" "00415257" "00000" "Familial, autosomal recessive" "" "OMIM: 229600; cholestatic jaundice and metabolic acidosis" "" "" "" "" "" "" "" "" "Fructose intolerance" "" "" "0000353756" "00198" "00468603" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 208 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000057" "00000057" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000081141" "00081029" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000295870" "00294702" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295871" "00294703" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295872" "00294704" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295873" "00294705" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000327427" "00326213" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327428" "00326214" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327429" "00326215" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327430" "00326216" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327431" "00326217" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327432" "00326218" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327433" "00326219" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327434" "00326220" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327435" "00326221" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327436" "00326222" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327437" "00326223" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327438" "00326224" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327439" "00326225" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327440" "00326226" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327441" "00326227" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327442" "00326228" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327443" "00326229" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327444" "00326230" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327445" "00326231" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327446" "00326232" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327447" "00326233" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327448" "00326234" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327449" "00326235" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327450" "00326236" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ;SSCA" "DNA" "" "" "0000327451" "00326237" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327452" "00326238" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327453" "00326239" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327454" "00326240" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327455" "00326241" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327456" "00326242" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327457" "00326243" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327458" "00326244" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327459" "00326245" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327460" "00326246" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327461" "00326247" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327462" "00326248" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327463" "00326249" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327464" "00326250" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327465" "00326251" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327466" "00326252" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327467" "00326253" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327468" "00326254" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327469" "00326255" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327470" "00326256" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327471" "00326257" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327472" "00326258" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327473" "00326259" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327474" "00326260" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327475" "00326261" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327476" "00326262" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327477" "00326263" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327478" "00326264" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327479" "00326265" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327480" "00326266" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327481" "00326267" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327482" "00326268" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327483" "00326269" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327484" "00326270" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327485" "00326271" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327486" "00326272" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327487" "00326273" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000327488" "00326274" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "HD;SEQ" "DNA" "" "" "0000327489" "00326275" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327490" "00326276" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327491" "00326277" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327492" "00326278" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327493" "00326279" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327494" "00326280" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327495" "00326281" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327496" "00326282" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327497" "00326283" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327498" "00326284" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327499" "00326285" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327500" "00326286" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327501" "00326287" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327502" "00326288" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327503" "00326289" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000327504" "00326290" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "DHPLC;SSCA;SEQ" "DNA" "" "" "0000327505" "00326291" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327506" "00326292" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327507" "00326293" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327508" "00326294" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327509" "00326295" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327510" "00326296" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327511" "00326297" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327512" "00326298" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327513" "00326299" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327514" "00326300" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327515" "00326301" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327516" "00326302" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327517" "00326303" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327518" "00326304" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327519" "00326305" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327520" "00326306" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327521" "00326307" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000327522" "00326308" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327523" "00326309" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327524" "00326310" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327525" "00326311" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327526" "00326312" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327527" "00326313" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327528" "00326314" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327529" "00326315" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327530" "00326316" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327531" "00326317" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327532" "00326318" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327533" "00326319" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327534" "00326320" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327535" "00326321" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327536" "00326322" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327537" "00326323" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327538" "00326324" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327539" "00326325" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327540" "00326326" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327541" "00326327" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327542" "00326328" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327543" "00326329" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327544" "00326330" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327545" "00326331" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327546" "00326332" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327547" "00326333" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327548" "00326334" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327549" "00326335" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327550" "00326336" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327551" "00326337" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327552" "00326338" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327553" "00326339" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000327554" "00326340" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "HD;SEQ" "DNA" "" "" "0000327555" "00326341" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "DHPLC;SSCA;SEQ" "DNA" "" "" "0000327556" "00326342" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "DHPLC;SSCA;SEQ" "DNA" "" "" "0000327557" "00326343" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "DHPLC;SEQ" "DNA" "" "" "0000327558" "00326344" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000327559" "00326345" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SSCA;SEQ" "DNA" "" "" "0000327560" "00326346" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327561" "00326347" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "DHPLC;SEQ" "DNA" "" "" "0000327562" "00326348" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "DHPLC;SEQ" "DNA" "" "" "0000327563" "00326349" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "DHPLC;SEQ" "DNA" "" "" "0000327564" "00326350" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "DHPLC;SEQ" "DNA" "" "" "0000327565" "00326351" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "DHPLC;SEQ" "DNA" "" "" "0000327566" "00326352" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "DHPLC;SEQ" "DNA" "" "" "0000327567" "00326353" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327568" "00326354" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO;SEQ" "DNA" "" "" "0000327569" "00326355" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO;SEQ" "DNA" "" "" "0000327570" "00326356" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327571" "00326357" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327572" "00326358" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327573" "00326359" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327574" "00326360" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327575" "00326361" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327576" "00326362" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327577" "00326363" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327578" "00326364" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327579" "00326365" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327580" "00326366" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327581" "00326367" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327582" "00326368" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327583" "00326369" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327584" "00326370" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327585" "00326371" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327586" "00326372" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327587" "00326373" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327588" "00326374" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327589" "00326375" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327590" "00326376" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327591" "00326377" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327592" "00326378" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327593" "00326379" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327594" "00326380" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327595" "00326381" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327596" "00326382" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327597" "00326383" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327598" "00326384" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327599" "00326385" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327600" "00326386" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327601" "00326387" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327602" "00326388" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327603" "00326389" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327604" "00326390" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327605" "00326391" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327606" "00326392" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327607" "00326393" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327608" "00326394" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327609" "00326395" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327610" "00326396" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327611" "00326397" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "ASO" "DNA" "" "" "0000327612" "00326398" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327613" "00326399" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327614" "00326400" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327615" "00326401" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327616" "00326402" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327617" "00326403" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327618" "00326404" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327619" "00326405" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327620" "00326406" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327621" "00326407" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327622" "00326408" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327623" "00326409" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000327624" "00326410" "1" "00006" "00006" "2021-01-11 13:45:36" "" "" "SEQ" "DNA" "" "" "0000381996" "00380782" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000416539" "00415257" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000428289" "00426969" "1" "00006" "00006" "2022-12-04 11:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000470271" "00468603" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 212 "{{screeningid}}" "{{geneid}}" "0000000057" "ALDOB" "0000000057" "ATM" "0000000057" "ATP7B" "0000000057" "DPYD" "0000000057" "ERCC6" "0000000057" "ETFB" "0000000057" "GAA" "0000000057" "IGHMBP2" "0000000057" "LAMA2" "0000000057" "NHLRC1" "0000000057" "NPHS1" "0000000057" "SERPINA1" "0000081141" "ALDOB" "0000327427" "ALDOB" "0000327428" "ALDOB" "0000327429" "ALDOB" "0000327430" "ALDOB" "0000327431" "ALDOB" "0000327432" "ALDOB" "0000327433" "ALDOB" "0000327434" "ALDOB" "0000327435" "ALDOB" "0000327436" "ALDOB" "0000327437" "ALDOB" "0000327438" "ALDOB" "0000327439" "ALDOB" "0000327440" "ALDOB" "0000327441" "ALDOB" "0000327442" "ALDOB" "0000327443" "ALDOB" "0000327444" "ALDOB" "0000327445" "ALDOB" "0000327446" "ALDOB" "0000327447" "ALDOB" "0000327448" "ALDOB" "0000327449" "ALDOB" "0000327450" "ALDOB" "0000327451" "ALDOB" "0000327452" "ALDOB" "0000327453" "ALDOB" "0000327454" "ALDOB" "0000327455" "ALDOB" "0000327456" "ALDOB" "0000327457" "ALDOB" "0000327458" "ALDOB" "0000327459" "ALDOB" "0000327460" "ALDOB" "0000327461" "ALDOB" "0000327462" "ALDOB" "0000327463" "ALDOB" "0000327464" "ALDOB" "0000327465" "ALDOB" "0000327466" "ALDOB" "0000327467" "ALDOB" "0000327468" "ALDOB" "0000327469" "ALDOB" "0000327470" "ALDOB" "0000327471" "ALDOB" "0000327472" "ALDOB" "0000327473" "ALDOB" "0000327474" "ALDOB" "0000327475" "ALDOB" "0000327476" "ALDOB" "0000327477" "ALDOB" "0000327478" "ALDOB" "0000327479" "ALDOB" "0000327480" "ALDOB" "0000327481" "ALDOB" "0000327482" "ALDOB" "0000327483" "ALDOB" "0000327484" "ALDOB" "0000327485" "ALDOB" "0000327486" "ALDOB" "0000327487" "ALDOB" "0000327488" "ALDOB" "0000327489" "ALDOB" "0000327490" "ALDOB" "0000327491" "ALDOB" "0000327492" "ALDOB" "0000327493" "ALDOB" "0000327494" "ALDOB" "0000327495" "ALDOB" "0000327496" "ALDOB" "0000327497" "ALDOB" "0000327498" "ALDOB" "0000327499" "ALDOB" "0000327500" "ALDOB" "0000327501" "ALDOB" "0000327502" "ALDOB" "0000327503" "ALDOB" "0000327504" "ALDOB" "0000327505" "ALDOB" "0000327506" "ALDOB" "0000327507" "ALDOB" "0000327508" "ALDOB" "0000327509" "ALDOB" "0000327510" "ALDOB" "0000327511" "ALDOB" "0000327512" "ALDOB" "0000327513" "ALDOB" "0000327514" "ALDOB" "0000327515" "ALDOB" "0000327516" "ALDOB" "0000327517" "ALDOB" "0000327518" "ALDOB" "0000327519" "ALDOB" "0000327520" "ALDOB" "0000327521" "ALDOB" "0000327522" "ALDOB" "0000327523" "ALDOB" "0000327524" "ALDOB" "0000327525" "ALDOB" "0000327526" "ALDOB" "0000327527" "ALDOB" "0000327528" "ALDOB" "0000327529" "ALDOB" "0000327530" "ALDOB" "0000327531" "ALDOB" "0000327532" "ALDOB" "0000327533" "ALDOB" "0000327534" "ALDOB" "0000327535" "ALDOB" "0000327536" "ALDOB" "0000327537" "ALDOB" "0000327538" "ALDOB" "0000327539" "ALDOB" "0000327540" "ALDOB" "0000327541" "ALDOB" "0000327542" "ALDOB" "0000327543" "ALDOB" "0000327544" "ALDOB" "0000327545" "ALDOB" "0000327546" "ALDOB" "0000327547" "ALDOB" "0000327548" "ALDOB" "0000327549" "ALDOB" "0000327550" "ALDOB" "0000327551" "ALDOB" "0000327552" "ALDOB" "0000327553" "ALDOB" "0000327554" "ALDOB" "0000327555" "ALDOB" "0000327556" "ALDOB" "0000327557" "ALDOB" "0000327558" "ALDOB" "0000327559" "ALDOB" "0000327560" "ALDOB" "0000327561" "ALDOB" "0000327562" "ALDOB" "0000327563" "ALDOB" "0000327564" "ALDOB" "0000327565" "ALDOB" "0000327566" "ALDOB" "0000327567" "ALDOB" "0000327568" "ALDOB" "0000327569" "ALDOB" "0000327570" "ALDOB" "0000327571" "ALDOB" "0000327572" "ALDOB" "0000327573" "ALDOB" "0000327574" "ALDOB" "0000327575" "ALDOB" "0000327576" "ALDOB" "0000327577" "ALDOB" "0000327578" "ALDOB" "0000327579" "ALDOB" "0000327580" "ALDOB" "0000327581" "ALDOB" "0000327582" "ALDOB" "0000327583" "ALDOB" "0000327584" "ALDOB" "0000327585" "ALDOB" "0000327586" "ALDOB" "0000327587" "ALDOB" "0000327588" "ALDOB" "0000327589" "ALDOB" "0000327590" "ALDOB" "0000327591" "ALDOB" "0000327592" "ALDOB" "0000327593" "ALDOB" "0000327594" "ALDOB" "0000327595" "ALDOB" "0000327596" "ALDOB" "0000327597" "ALDOB" "0000327598" "ALDOB" "0000327599" "ALDOB" "0000327600" "ALDOB" "0000327601" "ALDOB" "0000327602" "ALDOB" "0000327603" "ALDOB" "0000327604" "ALDOB" "0000327605" "ALDOB" "0000327606" "ALDOB" "0000327607" "ALDOB" "0000327608" "ALDOB" "0000327609" "ALDOB" "0000327610" "ALDOB" "0000327611" "ALDOB" "0000327612" "ALDOB" "0000327613" "ALDOB" "0000327614" "ALDOB" "0000327615" "ALDOB" "0000327616" "ALDOB" "0000327617" "ALDOB" "0000327618" "ALDOB" "0000327619" "ALDOB" "0000327620" "ALDOB" "0000327621" "ALDOB" "0000327622" "ALDOB" "0000327623" "ALDOB" "0000327624" "ALDOB" "0000416539" "ALDOB" ## 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 = 304 "{{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}}" "0000001268" "0" "50" "9" "104187213" "104187213" "subst" "0.000215473" "00002" "ALDOB_000001" "g.104187213C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.101424931C>T" "" "VUS" "" "0000130227" "3" "90" "9" "104190773" "104190776" "del" "0" "01758" "ALDOB_000002" "g.104190773_104190776del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic" "ACMG" "0000259460" "0" "30" "9" "104189836" "104189836" "subst" "2.03351E-5" "02325" "ALDOB_000004" "g.104189836G>A" "" "" "" "ALDOB(NM_000035.4):c.468C>T (p.D156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101427554G>A" "" "likely benign" "" "0000262221" "0" "50" "9" "104187798" "104187798" "subst" "0" "01943" "ALDOB_000003" "g.104187798G>A" "" "" "" "ALDOB(NM_000035.4):c.736C>T (p.P246S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101425516G>A" "" "VUS" "" "0000535661" "0" "90" "9" "104187237" "104187237" "subst" "0" "02327" "ALDOB_000005" "g.104187237C>T" "" "" "" "ALDOB(NM_000035.3):c.887G>A (p.(Trp296Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101424955C>T" "" "pathogenic" "" "0000535662" "0" "90" "9" "104189856" "104189856" "subst" "0.00292022" "02327" "ALDOB_000006" "g.104189856C>G" "" "" "" "ALDOB(NM_000035.4):c.448G>C (p.A150P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101427574C>G" "" "pathogenic" "" "0000611757" "0" "90" "9" "104189780" "104189780" "subst" "0.000354188" "02325" "ALDOB_000009" "g.104189780G>T" "" "" "" "ALDOB(NM_000035.4):c.524C>A (p.A175D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101427498G>T" "" "pathogenic" "" "0000611759" "0" "50" "9" "104189882" "104189882" "subst" "0" "02325" "ALDOB_000010" "g.104189882T>A" "" "" "" "ALDOB(NM_000035.4):c.422A>T (p.D141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101427600T>A" "" "VUS" "" "0000622104" "0" "10" "9" "104192205" "104192205" "subst" "0.000715278" "01943" "ALDOB_000011" "g.104192205A>C" "" "" "" "ALDOB(NM_000035.4):c.156T>G (p.T52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101429923A>C" "" "benign" "" "0000652559" "1" "50" "9" "104188842" "104188842" "subst" "0.00132456" "03575" "ALDOB_000012" "g.104188842C>G" "12/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; {DB:CLININrs3739721}" "Germline" "" "rs3739721" "0" "" "" "g.101426560C>G" "" "VUS" "" "0000652560" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "03575" "ALDOB_000006" "g.104189856C>G" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs1800546}" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic" "" "0000652561" "1" "70" "9" "104190750" "104190750" "subst" "1.21869E-5" "03575" "ALDOB_000013" "g.104190750C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs138121153}" "Germline" "" "rs138121153" "0" "" "" "g.101428468C>A" "" "likely pathogenic" "" "0000652562" "1" "70" "9" "104193160" "104193160" "subst" "4.06283E-6" "03575" "ALDOB_000014" "g.104193160G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs118204428}" "Germline" "" "rs118204428" "0" "" "" "g.101430878G>A" "" "likely pathogenic" "" "0000678472" "0" "50" "9" "104187237" "104187237" "subst" "0" "01804" "ALDOB_000005" "g.104187237C>T" "" "" "" "ALDOB(NM_000035.3):c.887G>A (p.(Trp296Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000711133" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711134" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711135" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711136" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711137" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711138" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711139" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711140" "2" "90" "9" "104187260" "104187260" "del" "0" "00006" "ALDOB_000023" "g.104187260del" "" "{PMID:Cross 1990:1967768}" "" "L288delC" "" "Germline" "" "" "0" "" "" "g.101424978del" "" "pathogenic (recessive)" "" "0000711141" "1" "90" "9" "104193057" "104193057" "subst" "0" "00006" "ALDOB_000066" "g.104193057C>T" "1/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101430775C>T" "" "pathogenic (recessive)" "" "0000711142" "1" "90" "9" "104187285" "104187285" "subst" "0" "00006" "ALDOB_000026" "g.104187285G>T" "1/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101425003G>T" "" "pathogenic (recessive)" "" "0000711143" "1" "90" "9" "104189860" "104189860" "subst" "0" "00006" "ALDOB_000049" "g.104189860C>T" "1/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101427578C>T" "" "pathogenic (recessive)" "" "0000711144" "1" "90" "9" "104192215" "104192215" "del" "0" "00006" "ALDOB_000062" "g.104192215del" "1/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "146delT" "" "Germline" "" "" "0" "" "" "g.101429933del" "" "pathogenic (recessive)" "" "0000711145" "1" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "7/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711146" "1" "90" "9" "104187132" "104187173" "del" "0" "00006" "ALDOB_000020" "g.104187132_104187173del" "3/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "953_994de­l42" "" "Germline" "" "" "0" "" "" "g.101424850_101424891del" "" "pathogenic (recessive)" "" "0000711147" "1" "90" "9" "104187132" "104187173" "del" "0" "00006" "ALDOB_000020" "g.104187132_104187173del" "3/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "953_994de­l42" "" "Germline" "" "" "0" "" "" "g.101424850_101424891del" "" "pathogenic (recessive)" "" "0000711148" "1" "90" "9" "104187132" "104187173" "del" "0" "00006" "ALDOB_000020" "g.104187132_104187173del" "3/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "953_994de­l42" "" "Germline" "" "" "0" "" "" "g.101424850_101424891del" "" "pathogenic (recessive)" "" "0000711149" "1" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "" "{PMID:Dazzo 1990:2339710}" "" "" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711150" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Sebastio 1991:1856829}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711151" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Sebastio 1991:1856829}" "" "A149P" "" "Germline" "" "" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711152" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Sebastio 1991:1856829}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711153" "21" "90" "9" "104184180" "104184187" "delins" "0" "00006" "ALDOB_000018" "g.104184180_104184187delinsCA" "" "{PMID:Ali 1994:8071980}" "" "" "" "Germline" "" "" "0" "" "" "g.101421898_101421905delinsCA" "" "pathogenic (recessive)" "" "0000711154" "11" "90" "9" "104192183" "104192183" "subst" "6.90799E-5" "00006" "ALDOB_000060" "g.104192183G>A" "" "{PMID:Ali 1994:8071980}" "" "R59X" "" "Germline" "" "" "0" "" "" "g.101429901G>A" "" "pathogenic (recessive)" "" "0000711155" "11" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Ali 1994:8071980}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711156" "11" "90" "9" "104188910" "104188915" "del" "0" "00006" "ALDOB_000041" "g.104188910_104188915del" "" "{PMID:Santamaria 1999:10352930}" "" "g10072–10077delTGGTAC" "" "Germline" "" "" "0" "" "" "g.101426628_101426633del" "" "pathogenic (recessive)" "" "0000711157" "11" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Ali 1995:7717389}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711158" "10" "90" "9" "104192248" "104192251" "del" "0" "00006" "ALDOB_000064" "g.104192248_104192251del" "" "{PMID:Ali 1995:7717389}" "" "del4" "" "Germline" "" "" "0" "" "" "g.101429966_101429969del" "" "pathogenic (recessive)" "" "0000711159" "11" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Ali 1995:7717389}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711160" "1" "90" "9" "104189826" "104191471" "del" "0" "00006" "ALDOB_000048" "g.104189826_104191471del" "" "{PMID:Cross 1990:2349937}" "" "g.6594-8239del" "1646 bp deletion from IVS3 to part of E5" "Germline" "" "" "0" "" "" "g.101427544_101429189del" "" "pathogenic (recessive)" "" "0000711161" "1" "90" "9" "104187503" "104189075" "del" "0" "00006" "ALDOB_000027" "g.104187503_104189075del" "" "{PMID:Cross 1990:2349937}" "" "g.8989-10457del" "1469 bp deletion from IVS5 to IVS7" "Germline" "" "" "0" "" "" "g.101425221_101426793del" "" "pathogenic (recessive)" "" "0000711162" "21" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "91/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711163" "11" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "80/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "A175D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711164" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "91/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711165" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "80/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "A175D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711166" "2" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "N335K" "" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711167" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711168" "1" "90" "9" "104187911" "104187911" "subst" "0" "00006" "ALDOB_000035" "g.104187911T>C" "2/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "" "" "Germline" "" "" "0" "" "" "g.101425629T>C" "" "pathogenic (recessive)" "" "0000711169" "1" "90" "9" "104187911" "104187911" "subst" "0" "00006" "ALDOB_000035" "g.104187911T>C" "2/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "" "" "Germline" "" "" "0" "" "" "g.101425629T>C" "" "pathogenic (recessive)" "" "0000711170" "1" "90" "9" "104187870" "104187870" "subst" "0" "00006" "ALDOB_000033" "g.104187870C>A" "1/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "" "" "Germline" "" "" "0" "" "" "g.101425588C>A" "" "pathogenic (recessive)" "" "0000711171" "1" "90" "9" "104187848" "104187848" "subst" "0" "00006" "ALDOB_000032" "g.104187848A>G" "1/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "" "" "Germline" "" "" "0" "" "" "g.101425566A>G" "" "pathogenic (recessive)" "" "0000711172" "1" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "" "{PMID:Santamaria 1996:8880583}" "" "MD4" "" "Germline" "" "rs1800546" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711173" "1" "90" "9" "104187764" "104187764" "subst" "8.12315E-6" "00006" "ALDOB_000029" "g.104187764A>G" "" "{PMID:Santamaria 1996:8880583}" "" "L256P" "" "Germline" "" "" "0" "" "" "g.101425482A>G" "" "pathogenic (recessive)" "" "0000711174" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Santamaria 1996:8880583}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711175" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Santamaria 1996:8880583}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711176" "1" "90" "9" "104184173" "104184173" "subst" "0.000147267" "00006" "ALDOB_000017" "g.104184173G>A" "" "{PMID:Ali 1998:9610797}" "" "A337V" "" "Germline" "" "" "0" "" "" "g.101421891G>A" "" "pathogenic (recessive)" "" "0000711177" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Ali 1998:9610797}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711178" "1" "90" "9" "104187764" "104187764" "subst" "8.12315E-6" "00006" "ALDOB_000029" "g.104187764A>G" "" "{PMID:Ali 1994:8162030}" "" "" "" "Germline" "" "" "0" "" "" "g.101425482A>G" "" "pathogenic (recessive)" "" "0000711179" "1" "90" "9" "104192183" "104192183" "subst" "6.90799E-5" "00006" "ALDOB_000060" "g.104192183G>A" "" "{PMID:Brooks 1994:8299883}" "" "R59X" "" "Germline" "" "" "0" "" "" "g.101429901G>A" "" "pathogenic (recessive)" "" "0000711180" "11" "90" "9" "104189763" "104189763" "subst" "0" "00006" "ALDOB_000042" "g.104189763C>G" "" "{PMID:Ali 1996:8829634}" "" "IVS5+1G>C" "" "Germline" "" "" "0" "" "" "g.101427481C>G" "" "pathogenic (recessive)" "" "0000711181" "11" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Santamaria 1996:8880583}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711182" "11" "90" "9" "104193108" "104193108" "del" "0" "00006" "ALDOB_000067" "g.104193108del" "" "{PMID:Santamaria 1996:8880583}" "" "AA20delA" "" "Germline" "" "" "0" "" "" "g.101430826del" "" "pathogenic (recessive)" "" "0000711183" "1" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "" "{PMID:Santamaria 1996:8880583}" "" "MD4" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711184" "11" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711185" "11" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711186" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711187" "11" "90" "9" "104188907" "104188907" "subst" "0" "00006" "ALDOB_000039" "g.104188907G>C" "1/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "g.4271C>G" "" "Germline" "" "" "0" "" "" "g.101426625G>C" "" "pathogenic (recessive)" "" "0000711188" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711189" "11" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711190" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711191" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711192" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711193" "1" "90" "9" "104192037" "104192037" "subst" "4.08824E-6" "00006" "ALDOB_000056" "g.104192037C>T" "1/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "g.1133G>A" "" "Germline" "" "" "0" "" "" "g.101429755C>T" "" "pathogenic (recessive)" "" "0000711194" "11" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "93/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711195" "1" "90" "9" "104192113" "104192113" "del" "0" "00006" "ALDOB_000058" "g.104192113del" "2/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "250delC" "" "Germline" "" "" "0" "" "" "g.101429831del" "" "pathogenic (recessive)" "" "0000711196" "1" "90" "9" "104192113" "104192113" "del" "0" "00006" "ALDOB_000058" "g.104192113del" "2/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "250delC" "" "Germline" "" "" "0" "" "" "g.101429831del" "" "pathogenic (recessive)" "" "0000711197" "1" "90" "9" "104192047" "104192058" "dup" "0" "00006" "ALDOB_000057" "g.104192047_104192058dup" "1/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "314-315ins12" "" "Germline" "" "" "0" "" "" "g.101429765_101429776dup" "" "pathogenic (recessive)" "" "0000711198" "1" "90" "9" "104192248" "104192251" "del" "0" "00006" "ALDOB_000064" "g.104192248_104192251del" "1/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "g922_925delgGTA" "" "Germline" "" "" "0" "" "" "g.101429966_101429969del" "" "pathogenic (recessive)" "" "0000711199" "1" "90" "9" "104189782" "104189782" "subst" "0" "00006" "ALDOB_000045" "g.104189782G>C" "2/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "" "" "Germline" "" "" "0" "" "" "g.101427500G>C" "" "pathogenic (recessive)" "" "0000711200" "1" "90" "9" "104189782" "104189782" "subst" "0" "00006" "ALDOB_000045" "g.104189782G>C" "2/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "" "" "Germline" "" "" "0" "" "" "g.101427500G>C" "" "pathogenic (recessive)" "" "0000711201" "2" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "3/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "A175D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711202" "1" "70" "9" "104198184" "104198184" "subst" "0" "00006" "ALDOB_000070" "g.104198184C>T" "" "{PMID:Coffee 2010:20882353}" "" "g.-132G>A" "in vitro expression cloning decreased transcription using luciferase reporter plasmids" "Germline" "" "" "0" "" "" "g.101435902C>T" "" "likely pathogenic (recessive)" "" "0000711203" "1" "90" "9" "104193180" "104193180" "subst" "0" "00006" "ALDOB_000069" "g.104193180C>G" "" "{PMID:Coffee 2010:20882353}" "" "" "" "Germline" "" "" "0" "" "" "g.101430898C>G" "" "pathogenic (recessive)" "" "0000711204" "2" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "" "{PMID:Coffee 2010:20882353}" "" "del4E4" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711205" "2" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "" "{PMID:Coffee 2010:20882353}" "" "N334K" "" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711206" "1" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "7/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711207" "1" "90" "9" "104184173" "104184173" "subst" "0.000147267" "00006" "ALDOB_000017" "g.104184173G>A" "4/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101421891G>A" "" "pathogenic (recessive)" "" "0000711208" "1" "90" "9" "104192183" "104192183" "subst" "6.90799E-5" "00006" "ALDOB_000060" "g.104192183G>A" "2/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101429901G>A" "" "pathogenic (recessive)" "" "0000711209" "1" "90" "9" "104187260" "104187260" "del" "0" "00006" "ALDOB_000023" "g.104187260del" "2/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "865delC" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101424978del" "" "pathogenic (recessive)" "" "0000711210" "1" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "11/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "N335K" "unknown variant 2nd chromosome" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711211" "1" "90" "9" "104184137" "104184142" "delins" "0" "00006" "ALDOB_000015" "g.104184137_104184142delinsAGTGT" "1/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "1044_1049delTTCTGGinsACACT" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101421855_101421860delinsAGTGT" "" "pathogenic (recessive)" "" "0000711212" "2" "90" "9" "104188775" "104195223" "del" "0" "00006" "ALDOB_000036" "g.104188775_104195223del" "6/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "g.2840_9288del" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101426493_101432941del" "" "pathogenic (recessive)" "" "0000711213" "3" "90" "9" "104187260" "104187260" "del" "0" "00006" "ALDOB_000023" "g.104187260del" "" "{PMID:Cross 1990:1967768}" "" "L288delC" "" "Germline" "" "" "0" "" "" "g.101424978del" "" "pathogenic (recessive)" "" "0000711214" "3" "90" "9" "104192183" "104192183" "subst" "6.90799E-5" "00006" "ALDOB_000060" "g.104192183G>A" "2/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101429901G>A" "" "pathogenic (recessive)" "" "0000711215" "3" "90" "9" "104192183" "104192183" "subst" "6.90799E-5" "00006" "ALDOB_000060" "g.104192183G>A" "2/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101429901G>A" "" "pathogenic (recessive)" "" "0000711216" "3" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "7/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711217" "3" "90" "9" "104184173" "104184173" "subst" "0.000147267" "00006" "ALDOB_000017" "g.104184173G>A" "4/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101421891G>A" "" "pathogenic (recessive)" "" "0000711218" "3" "90" "9" "104192248" "104192251" "del" "0" "00006" "ALDOB_000064" "g.104192248_104192251del" "" "{PMID:Cross 1990:2349937}" "" "113-1_115delGGTA" "" "Germline" "" "" "0" "" "" "g.101429966_101429969del" "" "pathogenic (recessive)" "" "0000711219" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711220" "3" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "7/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "del4E4" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711221" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711222" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711223" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711224" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711225" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711226" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711227" "3" "90" "9" "104187283" "104187284" "del" "0" "00006" "ALDOB_000025" "g.104187283_104187284del" "2/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "841-2delAC" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101425001_101425002del" "" "pathogenic (recessive)" "" "0000711228" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "unknown variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711229" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "unknown variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711230" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "unknown variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711231" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "unknown variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711232" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "unknown variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711233" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "unknown variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711234" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "unknown variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711235" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "unknown variant 2nd chromosome" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711236" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "unknown variant 2nd chromosome" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711237" "1" "90" "9" "104192037" "104192037" "subst" "4.08824E-6" "00006" "ALDOB_000056" "g.104192037C>T" "1/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101429755C>T" "" "pathogenic (recessive)" "" "0000711238" "1" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "1/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "357delAAAC" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711239" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "73/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "unknown variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711240" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "21/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711241" "1" "90" "9" "104187910" "104187910" "subst" "0" "00006" "ALDOB_000034" "g.104187910C>T" "1/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101425628C>T" "" "pathogenic (recessive)" "" "0000711242" "1" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "" "{PMID:Cross 1990:2336380}" "" "" "unknown variant 2nd chromosome" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711243" "1" "90" "9" "104192225" "104192225" "subst" "4.47267E-5" "00006" "ALDOB_000063" "g.104192225T>A" "1/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101429943T>A" "" "pathogenic (recessive)" "" "0000711244" "1" "90" "9" "104184159" "104184159" "subst" "4.07551E-6" "00006" "ALDOB_000016" "g.104184159A>G" "1/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101421877A>G" "" "pathogenic (recessive)" "" "0000711245" "1" "90" "9" "104188849" "104188849" "subst" "0" "00006" "ALDOB_000037" "g.104188849A>T" "19/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101426567A>T" "" "pathogenic (recessive)" "" "0000711246" "1" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "11/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711247" "1" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "9/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711248" "1" "90" "9" "104187764" "104187764" "subst" "8.12315E-6" "00006" "ALDOB_000029" "g.104187764A>G" "5/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101425482A>G" "" "pathogenic (recessive)" "" "0000711249" "1" "90" "9" "104184173" "104184173" "subst" "0.000147267" "00006" "ALDOB_000017" "g.104184173G>A" "2/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101421891G>A" "" "pathogenic (recessive)" "" "0000711250" "1" "90" "9" "104193108" "104193108" "del" "0" "00006" "ALDOB_000067" "g.104193108del" "1/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101430826del" "" "pathogenic (recessive)" "" "0000711251" "1" "90" "9" "104192047" "104192058" "dup" "0" "00006" "ALDOB_000057" "g.104192047_104192058dup" "1/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "314_315insGGGGATCGTGGT" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101429765_101429776dup" "" "pathogenic (recessive)" "" "0000711252" "1" "90" "9" "104190760" "104190787" "del" "0" "00006" "ALDOB_000053" "g.104190760_104190787del" "1/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101428478_101428505del" "" "pathogenic (recessive)" "" "0000711253" "1" "90" "9" "104189807" "104189807" "subst" "0" "00006" "ALDOB_000046" "g.104189807T>A" "1/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101427525T>A" "" "pathogenic (recessive)" "" "0000711254" "1" "90" "9" "104188909" "104188913" "del" "0" "00006" "ALDOB_000040" "g.104188909_104188913del" "1/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101426627_101426631del" "" "pathogenic (recessive)" "" "0000711255" "1" "90" "9" "104187260" "104187260" "del" "0" "00006" "ALDOB_000023" "g.104187260del" "1/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "865delC" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101424978del" "" "pathogenic (recessive)" "" "0000711256" "1" "90" "9" "104187213" "104187213" "subst" "0.000215473" "00006" "ALDOB_000001" "g.104187213C>T" "1/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101424931C>T" "" "pathogenic (recessive)" "" "0000711257" "1" "90" "9" "104187214" "104187214" "subst" "8.13173E-6" "00006" "ALDOB_000022" "g.104187214G>A" "1/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101424932G>A" "" "pathogenic (recessive)" "" "0000711258" "1" "90" "9" "104193168" "104193168" "subst" "8.12565E-6" "00006" "ALDOB_000068" "g.104193168A>G" "" "{PMID:Ali 1993:8438046}" "" "M1T" "" "Germline" "" "" "0" "" "" "g.101430886A>G" "" "pathogenic (recessive)" "" "0000711259" "1" "90" "9" "104192249" "104192249" "subst" "4.07014E-6" "00006" "ALDOB_000065" "g.104192249C>T" "1/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "IVS2-1G>A" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101429967C>T" "" "pathogenic (recessive)" "" "0000711260" "1" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "4/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "360-3delCAAA" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711261" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "93/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "A150P" "unknown variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711262" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "16/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "A175D" "unknown variant 2nd chromosome" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711263" "1" "90" "9" "104189772" "104189772" "subst" "0" "00006" "ALDOB_000044" "g.104189772A>G" "1/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101427490A>G" "" "pathogenic (recessive)" "" "0000711264" "1" "90" "9" "104188849" "104188849" "subst" "0" "00006" "ALDOB_000037" "g.104188849A>T" "1/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101426567A>T" "" "pathogenic (recessive)" "" "0000711265" "1" "90" "9" "104188849" "104188849" "subst" "0" "00006" "ALDOB_000038" "g.104188849A>C" "1/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101426567A>C" "" "pathogenic (recessive)" "" "0000711266" "1" "90" "9" "104187273" "104187273" "subst" "0" "00006" "ALDOB_000024" "g.104187273A>G" "1/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101424991A>G" "" "pathogenic (recessive)" "" "0000711267" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "17/2000 controls" "{PMID:Santer 2005:15880727}" "" "A150P" "no variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711268" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "3/2000 controls" "{PMID:Santer 2005:15880727}" "" "A175D" "no variant 2nd chromosome" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711269" "1" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "1/2000 controls" "{PMID:Santer 2005:15880727}" "" "N335K" "no variant 2nd chromosome" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711270" "1" "50" "9" "104189904" "104189904" "subst" "0.0018003" "00006" "ALDOB_000052" "g.104189904G>T" "" "{PMID:Santer 2005:15880727}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101427622G>T" "" "VUS" "" "0000711271" "1" "50" "9" "104189816" "104189816" "subst" "0.000138282" "00006" "ALDOB_000047" "g.104189816G>A" "" "{PMID:Santer 2005:15880727}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101427534G>A" "" "VUS" "" "0000711272" "1" "50" "9" "104189766" "104189766" "subst" "0.00038695" "00006" "ALDOB_000043" "g.104189766G>T" "" "{PMID:Santer 2005:15880727}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101427484G>T" "" "VUS" "" "0000711273" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "32/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "A150P" "unknown variant 2nd chromosome" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711274" "1" "70" "9" "104198184" "104198184" "subst" "0" "00006" "ALDOB_000070" "g.104198184C>T" "g.-132G>A" "{PMID:Coffee 2010:20882353}" "" "g.-132G>A" "unknown variant 2nd chromosome; in vitro expression cloning decreased transcription using luciferase reporter plasmids" "Germline" "" "" "0" "" "" "g.101435902C>T" "" "likely pathogenic (recessive)" "" "0000711275" "1" "90" "9" "104193180" "104193180" "subst" "0" "00006" "ALDOB_000069" "g.104193180C>G" "" "{PMID:Coffee 2010:20882353}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101430898C>G" "" "pathogenic (recessive)" "" "0000711276" "2" "90" "9" "104188849" "104188849" "subst" "0" "00006" "ALDOB_000037" "g.104188849A>T" "" "{PMID:Ali 1993:8438046}" "" "Y203X" "" "Germline" "" "" "0" "" "" "g.101426567A>T" "" "pathogenic (recessive)" "" "0000711277" "21" "90" "9" "104187213" "104187213" "subst" "0.000215473" "00006" "ALDOB_000001" "g.104187213C>T" "" "{PMID:Santamaria 2000:10970798}" "" "g.11125G>A" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101424931C>T" "" "pathogenic (recessive)" "" "0000711278" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711279" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711280" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711281" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711282" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711283" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711284" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711285" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711286" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711287" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711288" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711289" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711290" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711291" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711292" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711293" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711294" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711295" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711296" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711297" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711298" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711299" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711300" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1988:3383242}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711301" "3" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711302" "3" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711303" "3" "90" "9" "104192191" "104192191" "subst" "0" "00006" "ALDOB_000061" "g.104192191C>G" "1/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101429909C>G" "" "pathogenic (recessive)" "" "0000711304" "3" "90" "9" "104187192" "104187192" "subst" "0" "00006" "ALDOB_000021" "g.104187192A>G" "1/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101424910A>G" "" "pathogenic (recessive)" "" "0000711305" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "73/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711306" "3" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "21/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711307" "3" "90" "9" "104187814" "104187814" "subst" "0" "00006" "ALDOB_000030" "g.104187814G>T" "" "{PMID:Kajihara 1990:2203259}" "" "" "" "Germline" "" "" "0" "" "" "g.101425532G>T" "" "pathogenic (recessive)" "" "0000711308" "3" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "" "{PMID:Cross 1990:2336380}" "" "" "" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711309" "3" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "" "{PMID:Cross 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"" "" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711314" "3" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Sebastio 1991:1856829}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711315" "3" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Sebastio 1991:1856829}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711316" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Sebastio 1991:1856829}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711317" "3" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "" "{PMID:Sebastio 1991:1856829}" "" "" "" "Germline" "" "" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711318" "3" "90" "9" "104193160" "104193160" "subst" "4.06283E-6" "00006" "ALDOB_000014" "g.104193160G>A" "" "{PMID:Ali 1994:8071980}" "" "" "" "Germline" "" "" "0" "" "" "g.101430878G>A" "" "pathogenic (recessive)" "" "0000711319" "3" "90" "9" "104192140" "104192140" "subst" "4.06141E-6" "00006" "ALDOB_000059" "g.104192140A>G" "1/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "g.6846T>C" "" "Germline" "" "" "0" "" "" "g.101429858A>G" "" "pathogenic (recessive)" "" "0000711320" "3" "90" "9" "104187214" "104187214" "subst" "8.13173E-6" "00006" "ALDOB_000022" "g.104187214G>A" "" "{PMID:Tolan 1995:8535439}, Cox ASHG1991" "" "" "" "Germline" "" "" "0" "" "" "g.101424932G>A" "" "pathogenic (recessive)" "" "0000711321" "3" "90" "9" "104187214" "104187214" "subst" "8.13173E-6" "00006" "ALDOB_000022" "g.104187214G>A" "" "{PMID:Santamaria 1996:8880583}" "" "R303W" "" "Germline" "" "" "0" "" "" "g.101424932G>A" "" "pathogenic (recessive)" "" "0000711322" "3" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "" "{PMID:Santamaria 1996:8880583}" "" "MD4" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711323" "3" "90" "9" "104184173" "104184173" "subst" "0.000147267" "00006" "ALDOB_000017" "g.104184173G>A" "" "{PMID:Relos 1999:10229688}" "" "A337V" "" "Germline" "" "" "0" "" "" "g.101421891G>A" "" "pathogenic (recessive)" "" "0000711324" "3" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "4/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711325" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711326" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711327" "3" "90" "9" "104187733" "104187733" "subst" "0" "00006" "ALDOB_000028" "g.104187733A>T" "2/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "IVS7+2T>A" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101425451A>T" "" "pathogenic (recessive)" "" "0000711328" "3" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "32/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711329" "3" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "3/52 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"ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711334" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711335" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711336" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711337" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:1967768}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711338" "1" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:1967768}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711339" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "73/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711340" "2" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "21/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711341" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "73/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711342" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "73/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711343" "2" "90" "9" "104187844" "104187845" "ins" "0" "00006" "ALDOB_000031" "g.104187844_104187845insTTAGCA" "1/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "K230MfsX136" "" "Germline" "" "" "0" "" "" "g.101425562_101425563insTTAGCA" "" "pathogenic (recessive)" "" "0000711344" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "73/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711345" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "73/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711346" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "73/92 cases" "{PMID:Davit-Spraul 2008:18541450}" "" "" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711347" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Dazzo 1990:2339710}" "" "" "" "Germline" "" "" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711348" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Sebastio 1991:1856829}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711349" "2" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Sebastio 1991:1856829}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711350" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Sebastio 1991:1856829}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711351" "11" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Ali 1994:8071980}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711352" "21" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "" "{PMID:Ali 1994:8071980}" "" "N334K" "" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711353" "21" "90" "9" "104187910" "104187910" "subst" "0" "00006" "ALDOB_000034" "g.104187910C>T" "" "{PMID:Ali 1994:8071980}" "" "IVS6-1G>A" "" "Germline" "" "" "0" "" "" "g.101425628C>T" "" "pathogenic (recessive)" "" "0000711354" "21" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "" "{PMID:Santamaria 1999:10352930}" "" "N334K" "" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711355" "21" "90" "9" "104192248" "104192251" "del" "0" "00006" "ALDOB_000064" "g.104192248_104192251del" "" "{PMID:Ali 1995:7717389}" "" "del4" "" "Germline" "" "" "0" "" "" "g.101429966_101429969del" "" "pathogenic (recessive)" "" "0000711356" "21" "90" "9" "104189862" "104189862" "subst" "2.84632E-5" "00006" "ALDOB_000050" "g.104189862A>G" "" "{PMID:Ali 1995:7717389}" "" "W147R" "" "Germline" "" "" "0" "" "" "g.101427580A>G" "" "pathogenic (recessive)" "" "0000711357" "21" "90" "9" "104192248" "104192251" "del" "0" "00006" "ALDOB_000064" "g.104192248_104192251del" "" "{PMID:Ali 1995:7717389}" "" "del4" "" "Germline" "" "" "0" "" "" "g.101429966_101429969del" "" "pathogenic (recessive)" "" "0000711358" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Cross 1990:2349937}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711359" "2" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Cross 1990:2349937}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711360" "11" "90" "9" "104188775" "104195223" "del" "0" "00006" "ALDOB_000036" "g.104188775_104195223del" "6/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "g.2840_9288del" "6,548 bp deletion" "Germline" "" "" "0" "" "" "g.101426493_101432941del" "" "pathogenic (recessive)" "" "0000711361" "20" "90" "9" "104188775" "104195223" "del" "0" "00006" "ALDOB_000036" "g.104188775_104195223del" "6/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "g.2840_9288del" "" "Germline" "" "" "0" "" "" "g.101426493_101432941del" "" "pathogenic (recessive)" "" "0000711362" "2" "90" "9" "104188775" "104195223" "del" "0" "00006" "ALDOB_000036" "g.104188775_104195223del" "6/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "g.2840_9288del" "" "Germline" "" "" "0" "" "" "g.101426493_101432941del" "" "pathogenic (recessive)" "" "0000711363" "2" "90" "9" "104188775" "104195223" "del" "0" "00006" "ALDOB_000036" "g.104188775_104195223del" "6/244 chromosomes (cases)" "{PMID:Esposito 2010:20848650}" "" "g.2840_9288del" "" "Germline" "" "" "0" "" "" "g.101426493_101432941del" "" "pathogenic (recessive)" "" "0000711364" "1" "90" "9" "104190799" "104190799" "subst" "4.06534E-6" "00006" "ALDOB_000054" "g.104190799G>A" "1/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "" "" "Germline" "" "" "0" "" "" "g.101428517G>A" "" "pathogenic (recessive)" "" "0000711365" "1" "90" "9" "104190806" "104190806" "subst" "0" "00006" "ALDOB_000055" "g.104190806C>G" "1/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "g.8180G>C" "" "Germline" "" "" "0" "" "" "g.101428524C>G" "" "pathogenic (recessive)" "" "0000711366" "2" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "11/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711367" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "91/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711368" "2" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "80/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "A175D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711369" "2" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "80/244 chromosomes (cases)" "{PMID:Esposito 2004:15532022}, {PMID:Esposito 2010:20848650}" "" "A175D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711370" "2" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "" "{PMID:Santamaria 1996:8880583}" "" "N334K" "" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711371" "2" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "" "{PMID:Santamaria 1996:8880583}" "" "N334K" "" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711372" "2" "90" "9" "104188849" "104188849" "subst" "0" "00006" "ALDOB_000037" "g.104188849A>T" "" "{PMID:Santamaria 1996:8880583}" "" "Y203X" "" "Germline" "" "" "0" "" "" "g.101426567A>T" "" "pathogenic (recessive)" "" "0000711373" "2" "90" "9" "104188849" "104188849" "subst" "0" "00006" "ALDOB_000037" "g.104188849A>T" "" "{PMID:Santamaria 1996:8880583}" "" "Y203X" "" "Germline" "" "" "0" "" "" "g.101426567A>T" "" "pathogenic (recessive)" "" "0000711374" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Ali 1998:9610797}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711375" "1" "90" "9" "104184173" "104184173" "subst" "0.000147267" "00006" "ALDOB_000017" "g.104184173G>A" "" "{PMID:Ali 1998:9610797}" "" "A337V" "" "Germline" "" "" "0" "" "" "g.101421891G>A" "" "pathogenic (recessive)" "" "0000711376" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Ali 1994:8162030}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711377" "2" "90" "9" "104189901" "104189901" "subst" "0" "00006" "ALDOB_000051" "g.104189901A>G" "" "{PMID:Brooks 1994:8299883}" "" "C134R" "" "Germline" "" "" "0" "" "" "g.101427619A>G" "" "pathogenic (recessive)" "" "0000711378" "21" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Ali 1996:8829634}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711379" "21" "90" "9" "104193108" "104193108" "del" "0" "00006" "ALDOB_000067" "g.104193108del" "" "{PMID:Santamaria 1996:8880583}" "" "AA20delA" "" "Germline" "" "" "0" "" "" "g.101430826del" "" "pathogenic (recessive)" "" "0000711380" "21" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Santamaria 1996:8880583}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711381" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Santamaria 1996:8880583}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711382" "21" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "7/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "del4E4" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711383" "21" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "4/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711384" "2" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "7/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "del4E4" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711385" "21" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711386" "2" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "7/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "del4E4" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711387" "21" "90" "9" "104189780" "104189780" "subst" "0.000354188" "00006" "ALDOB_000009" "g.104189780G>T" "4/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A174D" "" "Germline" "" "rs76917243" "0" "" "" "g.101427498G>T" "" "pathogenic (recessive)" "" "0000711388" "2" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "7/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "del4E4" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711389" "2" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "7/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "del4E4" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711390" "2" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "1/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "N334K" "" "Germline" "" "rs78340951" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000711391" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "29/42 chromosomes cases" "{PMID:Sanchez-Gutierrez 2002:12205126}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711392" "20" "90" "9" "104190760" "104190787" "del" "0" "00006" "ALDOB_000053" "g.104190760_104190787del" "1/144 chromosomes cases" "{PMID:Santer 2005:15880727}" "" "345-72del28" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.101428478_101428505del" "" "pathogenic (recessive)" "" "0000711393" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "32/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711394" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "32/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711395" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "32/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711396" "2" "90" "9" "104190773" "104190776" "del" "0" "00006" "ALDOB_000002" "g.104190773_104190776del" "1/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "360-363delCAAA" "" "Germline" "" "" "0" "" "" "g.101428491_101428494del" "" "pathogenic (recessive)" "" "0000711397" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "32/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711398" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "32/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711399" "1" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "32/52 chromosomes cases" "{PMID:Gruchota 2006:16406649}" "" "A150P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711400" "2" "90" "9" "104189856" "104189856" "subst" "0.00292022" "00006" "ALDOB_000006" "g.104189856C>G" "" "{PMID:Coffee 2010:20882353}" "" "A149P" "" "Germline" "" "rs1800546" "0" "" "" "g.101427574C>G" "" "pathogenic (recessive)" "" "0000711401" "2" "90" "9" "104192183" "104192183" "subst" "6.90799E-5" "00006" "ALDOB_000060" "g.104192183G>A" "" "{PMID:Coffee 2010:20882353}" "" "R59X" "" "Germline" "" "" "0" "" "" "g.101429901G>A" "" "pathogenic (recessive)" "" "0000711402" "1" "90" "9" "104193180" "104193180" "subst" "0" "00006" "ALDOB_000069" "g.104193180C>G" "" "{PMID:Coffee 2010:20882353}" "" "" "" "Germline" "" "" "0" "" "" "g.101430898C>G" "" "pathogenic (recessive)" "" "0000711403" "1" "90" "9" "104193180" "104193180" "subst" "0" "00006" "ALDOB_000069" "g.104193180C>G" "" "{PMID:Coffee 2010:20882353}" "" "" "" "Germline" "" "" "0" "" "" "g.101430898C>G" "" "pathogenic (recessive)" "" "0000722144" "0" "70" "9" "104189856" "104189856" "subst" "0.00292022" "01943" "ALDOB_000006" "g.104189856C>G" "" "" "" "ALDOB(NM_000035.4):c.448G>C (p.A150P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722145" "0" "90" "9" "104189856" "104189856" "subst" "0.00292022" "02329" "ALDOB_000006" "g.104189856C>G" "" "" "" "ALDOB(NM_000035.4):c.448G>C (p.A150P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000795630" "3" "70" "9" "104189780" "104189780" "subst" "0.000354188" "00000" "ALDOB_000009" "g.104189780G>T" "" "{PMID:Nair 2018:30293248}" "" "NM_000035.3:c.524C>A; p.Ala175Asp" "" "Unknown" "?" "rs76917243" "0" "" "" "g.101427498G>T" "" "likely pathogenic" "" "0000803799" "0" "10" "9" "104198191" "104198191" "subst" "0" "02327" "ALDOB_000071" "g.104198191A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852044" "0" "50" "9" "104190778" "104190778" "subst" "7.31755E-5" "02325" "ALDOB_000072" "g.104190778C>T" "" "" "" "ALDOB(NM_000035.4):c.352G>A (p.G118R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852045" "0" "30" "9" "104193196" "104193196" "subst" "0.00187534" "02326" "ALDOB_000073" "g.104193196G>A" "" "" "" "ALDOB(NM_000035.4):c.-10-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874667" "3" "70" "9" "104190773" "104190776" "del" "0" "00000" "ALDOB_000002" "g.104190773_104190776del" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "ALDOB, NM_000035.3, c.360_363del, p.Asn120Lysfs*32" "homozygous" "Unknown" "?" "" "0" "" "" "g.101428491_101428494del" "" "likely pathogenic" "ACMG" "0000888501" "0" "90" "9" "104187825" "104187825" "subst" "0" "02326" "ALDOB_000074" "g.104187825C>A" "" "" "" "ALDOB(NM_000035.4):c.709G>T (p.G237*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000906012" "3" "90" "9" "104184181" "104184181" "subst" "0.00011482" "00006" "ALDOB_000019" "g.104184181G>C" "1/73,755 controls" "{PMID:Reiner 2022:36459106}" "" "" "" "Germline" "" "" "0" "" "" "g.101421899G>C" "" "pathogenic (recessive)" "" "0000913009" "0" "90" "9" "104184181" "104184181" "subst" "0.00011482" "02327" "ALDOB_000019" "g.104184181G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924917" "0" "30" "9" "104190824" "104190824" "subst" "0.000980089" "02326" "ALDOB_000075" "g.104190824A>C" "" "" "" "ALDOB(NM_000035.4):c.325-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978324" "0" "90" "9" "104189780" "104189780" "subst" "0.000354188" "02327" "ALDOB_000009" "g.104189780G>T" "" "" "" "ALDOB(NM_000035.4):c.524C>A (p.A175D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978325" "0" "90" "9" "104189856" "104189856" "subst" "0.00292022" "02325" "ALDOB_000006" "g.104189856C>G" "" "" "" "ALDOB(NM_000035.4):c.448G>C (p.A150P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978326" "0" "90" "9" "104189856" "104189856" "subst" "0.00292022" "02326" "ALDOB_000006" "g.104189856C>G" "" "" "" "ALDOB(NM_000035.4):c.448G>C (p.A150P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014470" "0" "90" "9" "104192183" "104192183" "subst" "6.90799E-5" "02327" "ALDOB_000060" "g.104192183G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001049367" "0" "90" "9" "104189780" "104189780" "subst" "0.000354188" "03779" "ALDOB_000009" "g.104189780G>T" "" "" "" "" "" "Unknown" "" "rs76917243" "0" "" "" "" "" "pathogenic" "" "0001049368" "0" "90" "9" "104189856" "104189856" "subst" "0.00292022" "03779" "ALDOB_000006" "g.104189856C>G" "" "" "" "" "" "Unknown" "" "rs1800546" "0" "" "" "" "" "pathogenic" "" "0001053311" "0" "50" "9" "104198194" "104198194" "subst" "0" "02327" "ALDOB_000076" "g.104198194C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058393" "0" "90" "9" "104192097" "104192097" "subst" "0.000418709" "00006" "ALDOB_000077" "g.104192097G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.101429815G>T" "" "pathogenic" "" ## 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 ALDOB ## Count = 304 "{{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}}" "0000001268" "00000092" "50" "911" "0" "911" "0" "c.911G>A" "r.(?)" "p.(Arg304Gln)" "" "0000130227" "00000092" "90" "360" "0" "363" "0" "c.360_363del" "r.(?)" "p.(Asn120Lysfs*32)" "" "0000259460" "00000092" "30" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Asp156=)" "" "0000262221" "00000092" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Pro246Ser)" "" "0000535661" "00000092" "90" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Trp296Ter)" "" "0000535662" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "" "0000611757" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "" "0000611759" "00000092" "50" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Asp141Val)" "" "0000622104" "00000092" "10" "156" "0" "156" "0" "c.156T>G" "r.(?)" "p.(Thr52=)" "" "0000652559" "00000092" "50" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Glu207Gln)" "" "0000652560" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "" "0000652561" "00000092" "70" "379" "1" "379" "1" "c.379+1G>T" "r.spl?" "p.?" "" "0000652562" "00000092" "70" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Arg4*)" "" "0000678472" "00000092" "50" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Trp296Ter)" "" "0000711133" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711134" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711135" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711136" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711137" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711138" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711139" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711140" "00000092" "90" "865" "0" "865" "0" "c.865del" "r.(?)" "p.(Leu289Phefs*10)" "8" "0000711141" "00000092" "90" "112" "1" "112" "1" "c.112+1G>A" "r.spl" "p.?" "2i" "0000711142" "00000092" "90" "839" "0" "839" "0" "c.839C>A" "r.(?)" "p.(Ala280Asp)" "8" "0000711143" "00000092" "90" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Trp148*)" "5" "0000711144" "00000092" "90" "146" "0" "146" "0" "c.146del" "r.(?)" "p.(Val49Glyfs*29)" "3" "0000711145" "00000092" "90" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Asn335Lys)" "9" "0000711146" "00000092" "90" "954" "0" "995" "0" "c.954_995del" "r.(?)" "p.(Ala319_Ala332del)" "8" "0000711147" "00000092" "90" "954" "0" "995" "0" "c.954_995del" "r.(?)" "p.(Ala319_Ala332del)" "8" "0000711148" "00000092" "90" "954" "0" "995" "0" "c.954_995del" "r.(?)" "p.(Ala319_Ala332del)" "8" "0000711149" "00000092" "90" "360" "0" "363" "0" "c.360_363del" "r.(?)" "p.(Asn120Lysfs*32)" "4" "0000711150" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711151" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711152" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711153" "00000092" "90" "1000" "-1" "1006" "0" "c.1000-1_1006delinsTG" "r.spl" "p.?" "8i_9" "0000711154" "00000092" "90" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60*)" "3" "0000711155" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711156" "00000092" "90" "548" "0" "553" "0" "c.548_553del" "r.(?)" "p.(Leu183_Val184del)" "6" "0000711157" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711158" "00000092" "90" "113" "-1" "115" "0" "c.113-1_115del" "r.spl" "p.?" "2i" "0000711159" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711160" "00000092" "90" "324" "568" "480" "0" "c.324+568_480del" "r.(?)" "p.?" "5" "0000711161" "00000092" "90" "541" "-154" "800" "-178" "c.541-154_800-178del" "r.spl" "p.?" "5i_7i" "0000711162" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711163" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711164" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711165" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711166" "00000092" "90" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Asn335Lys)" "9" "0000711167" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711168" "00000092" "90" "625" "-2" "625" "-2" "c.625-2A>G" "r.spl" "p.?" "6i" "0000711169" "00000092" "90" "625" "-2" "625" "-2" "c.625-2A>G" "r.spl" "p.?" "6i" "0000711170" "00000092" "90" "664" "0" "664" "0" "c.664G>T" "r.(?)" "p.(Val222Phe)" "7" "0000711171" "00000092" "90" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" "7" "0000711172" "00000092" "90" "360" "0" "363" "0" "c.360_363del" "r.(?)" "p.(Asn120Lysfs*32)" "4" "0000711173" "00000092" "90" "770" "0" "770" "0" "c.770T>C" "r.(?)" "p.(Leu257Pro)" "7" "0000711174" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711175" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711176" "00000092" "90" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Ala338Val)" "9" "0000711177" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711178" "00000092" "90" "770" "0" "770" "0" "c.770T>C" "r.(?)" "p.(Leu257Pro)" "7" "0000711179" "00000092" "90" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60*)" "3" "0000711180" "00000092" "90" "540" "1" "540" "1" "c.540+1G>C" "r.spl" "p.?" "5i" "0000711181" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711182" "00000092" "90" "62" "0" "62" "0" "c.62del" "r.(?)" "p.(Gln21Argfs*17)" "2" "0000711183" "00000092" "90" "360" "0" "363" "0" "c.360_363del" "r.(?)" "p.(Asn120Lysfs*32)" "4" "0000711184" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711185" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711186" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711187" "00000092" "90" "554" "0" "554" "0" "c.554C>G" "r.(?)" "p.(Pro185Arg)" "6" "0000711188" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711189" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711190" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711191" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711192" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711193" "00000092" "90" "324" "0" "324" "0" "c.324G>A" "r.313_324del" "p.Val105_Lys108del" "3" "0000711194" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711195" "00000092" "90" "250" "0" "250" "0" "c.250del" "r.(?)" "p.(Leu84Serfs*26)" "3" "0000711196" "00000092" "90" "250" "0" "250" "0" "c.250del" "r.(?)" "p.(Leu84Serfs*26)" "3" "0000711197" "00000092" "90" "306" "0" "317" "0" "c.306_317dup" "r.(?)" "p.(Val104_Ile107dup)" "3" "0000711198" "00000092" "90" "113" "-1" "115" "0" "c.113-1_115del" "r.spl" "p.?" "2i" "0000711199" "00000092" "90" "522" "0" "522" "0" "c.522C>G" "r.(?)" "p.(Tyr174*)" "5" "0000711200" "00000092" "90" "522" "0" "522" "0" "c.522C>G" "r.(?)" "p.(Tyr174*)" "5" "0000711201" "00000092" "90" "524" "0" "524" "0" "c.524C>A" "r.(?)" "p.(Ala175Asp)" "5" "0000711202" "00000092" "70" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "0000711203" "00000092" "90" "-10" "-1" "-10" "-1" "c.-10-1G>C" "r.?" "p.?" "1i" "0000711204" "00000092" "90" "360" "0" "363" "0" "c.360_363del" "r.(?)" "p.(Asn120Lysfs*32)" "4" "0000711205" "00000092" "90" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Asn335Lys)" "9" "0000711206" "00000092" "90" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Asn335Lys)" "9" "0000711207" "00000092" "90" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Ala338Val)" "9" "0000711208" "00000092" "90" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60*)" "3" "0000711209" "00000092" "90" "865" "0" "865" "0" "c.865del" "r.(?)" "p.(Leu289Phefs*10)" "8" "0000711210" "00000092" "90" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Asn335Lys)" "9" "0000711211" "00000092" "90" "1044" "0" "1049" "0" "c.1044_1049delinsACACT" "r.(?)" "p.(Ser349Hisfs*24)" "9" "0000711212" "00000092" "90" "-10" "-2043" "624" "63" "c.-10-2043_624+63del" "r.?" "p.0?" "1i_6i" "0000711213" "00000092" "90" "865" "0" "865" "0" "c.865del" "r.(?)" "p.(Leu289Phefs*10)" "8" "0000711214" "00000092" "90" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60*)" "3" "0000711215" "00000092" "90" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60*)" "3" "0000711216" "00000092" "90" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Asn335Lys)" "9" "0000711217" "00000092" "90" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Ala338Val)" "9" "0000711218" "00000092" "90" "113" "-1" "115" "0" "c.113-1_115del" "r.spl" "p.?" "2i" "0000711219" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711220" "00000092" "90" "360" "0" "363" "0" "c.360_363del" "r.(?)" "p.(Asn120Lysfs*32)" "4" "0000711221" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711222" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711223" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711224" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711225" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711226" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711227" "00000092" "90" "841" "0" "842" "0" "c.841_842del" "r.(?)" "p.(Thr281Serfs*54)" "8" "0000711228" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711229" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711230" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711231" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711232" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" "p.(Ala150Pro)" "5" "0000711233" "00000092" "90" "448" "0" "448" "0" "c.448G>C" "r.(?)" 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