### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = L2HGDH) # 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}}" "L2HGDH" "L-2-hydroxyglutarate dehydrogenase" "14" "q22.1" "unknown" "NG_008092.1" "UD_132119061797" "" "http://www.LOVD.nl/L2HGDH" "" "1" "20499" "79944" "609584" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/L2HGDH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-05-07 00:00:00" "00006" "2016-11-16 22:18:56" "00000" "2021-09-17 14:40:49" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010922" "L2HGDH" "L-2-hydroxyglutarate dehydrogenase" "001" "NM_024884.2" "" "NP_079160.1" "" "" "" "-79" "6016" "1392" "50778947" "50709152" "" "0000-00-00 00:00:00" "" "" ## 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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01847" "L2HGA" "aciduria, L-2-hydroxyglutaric (L2HGA)" "" "236792" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "L2HGDH" "00139" "L2HGDH" "01847" ## Individuals ## Do not remove or alter this header ## ## Count = 260 "{{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}}" "00080963" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00081046" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00185377" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185378" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185380" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185381" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185382" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185383" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185384" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185385" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185386" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0003}" "consanguineous parents (2nd degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185387" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0003}" "consanguineous parents (2nd degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185388" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185390" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185391" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185392" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0005}" "consanguineous parents (3rd degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185393" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185394" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185395" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "" "" "no" "Turkey" "" "0" "" "" "" "" "00185397" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185398" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185399" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "consanguineous parents (2nd degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185400" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185401" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185402" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185403" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "consanguineous parents (1st degree)" "" "yes" "Turkey" "" "0" "" "" "" "" "00185404" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Lithuania" "" "0" "" "" "" "" "00185405" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00185406" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "France" "" "0" "" "" "" "" "00185407" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germany" "" "0" "" "" "" "" "00185408" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "South Africa" "" "0" "" "" "" "" "00185410" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Turkey" "" "0" "" "" "" "" "00185411" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Turkey" "" "0" "" "" "" "" "00185412" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Turkey" "" "0" "" "" "" "" "00185413" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Turkey" "" "0" "" "" "" "" "00185414" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Turkey" "" "0" "" "" "" "" "00185415" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Venezuela" "" "0" "" "" "" "" "00185416" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Venezuela" "" "0" "" "" "" "" "00185418" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Venezuela" "" "0" "" "" "" "" "00185419" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Venezuela" "" "0" "" "" "" "" "00185420" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Venezuela" "" "0" "" "" "" "" "00185421" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Venezuela" "" "0" "" "" "" "" "00185422" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Venezuela" "" "0" "" "" "" "" "00185423" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Venezuela" "" "0" "" "" "" "" "00185424" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "Lithuania" "" "0" "" "" "" "" "00185425" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "Pakistan" "" "0" "" "" "" "" "00185426" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "F" "" "Pakistan" "" "0" "" "" "" "" "00185427" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "Second allele not identified, sporadic, consanguineous parents (1st degree)" "F" "yes" "France" "" "0" "" "" "" "" "00185428" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "M" "" "Germany" "" "0" "" "" "" "" "00185429" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "South Africa" "" "0" "" "" "" "" "00185430" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "M" "" "Lebanon" "" "0" "" "" "" "" "00185431" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "F" "" "Lebanon" "" "0" "" "" "" "" "00185432" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "South Africa" "" "0" "" "" "" "" "00185433" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "South Africa" "" "0" "" "" "" "" "00185434" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "F" "" "South Africa" "" "0" "" "" "" "" "00185435" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "F" "" "South Africa" "" "0" "" "" "" "" "00185436" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00185437" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00185438" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00185439" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00185440" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00185441" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "Venezuela" "" "0" "" "" "" "" "00185442" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "Venezuela" "" "0" "" "" "" "" "00185443" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "Venezuela" "" "0" "" "" "" "" "00185444" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "F" "" "Venezuela" "" "0" "" "" "" "" "00185445" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "Venezuela" "" "0" "" "" "" "" "00185446" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "M" "" "Venezuela" "" "0" "" "" "" "" "00185447" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00185450" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00185454" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "" "Germany" "" "0" "" "" "" "" "00185458" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "no" "Germany" "" "0" "" "" "" "" "00185461" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00185462" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "yes" "Israel" "" "0" "" "" "" "" "00185465" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "yes" "Germany" "" "0" "" "" "" "" "00185469" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Germany" "" "0" "" "" "" "" "00185474" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "F" "yes" "Germany" "" "0" "" "" "" "" "00185475" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "" "" "" "Turkey" "" "0" "" "" "" "" "00185476" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "M" "no" "Greece" "" "0" "" "" "" "" "00185479" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00185481" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "F" "" "France" "" "0" "" "" "" "" "00185482" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "France" "" "0" "" "" "" "" "00185483" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185485" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00185487" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "no" "Greece" "" "0" "" "" "" "" "00185488" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185490" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00185494" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "F" "yes" "Denmark" "" "0" "" "" "" "" "00185496" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00185500" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "F" "no" "Greece" "" "0" "" "" "" "" "00185501" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "" "" "Spain" "" "0" "" "" "" "" "00185504" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "yes" "Spain" "" "0" "" "" "" "" "00185505" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Canada" "" "0" "" "" "" "" "00185508" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Poland" "" "0" "" "" "" "" "00185511" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "yes" "Switzerland" "" "0" "" "" "" "" "00185513" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Italy" "" "0" "" "" "" "" "00185515" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "yes" "Italy" "" "0" "" "" "" "" "00185516" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Italy" "" "0" "" "" "" "" "00185517" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Italy" "" "0" "" "" "" "" "00185518" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Italy" "" "0" "" "" "" "" "00185521" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00185523" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00185524" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185525" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185528" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "yes" "France" "" "0" "" "" "" "" "00185530" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "yes" "Brazil" "" "0" "" "" "" "" "00185531" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "," "" "" "Brazil" "" "0" "" "" "" "" "00185534" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "M" "yes" "Austria" "" "0" "" "" "" "" "00185537" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Belgium" "" "0" "" "" "" "" "00185540" "" "" "" "1" "" "01815" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "M" "" "Italy" "" "0" "" "" "" "" "00185542" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00185543" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "Ireland" "" "0" "" "" "" "" "00185544" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "yes" "Spain" "" "0" "" "" "" "" "00185547" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "F" "" "Greece" "" "0" "" "" "" "" "00185550" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "no" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00185551" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00185552" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "yes" "Israel" "" "0" "" "" "" "" "00185555" "" "" "" "1" "" "01815" "{PMID:Sass 2008:18415700}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185560" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "yes" "Luxembourg" "" "0" "" "" "" "" "00185563" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "no" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00185564" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "yes" "Brazil" "" "0" "" "" "" "" "00185568" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "Germany" "" "0" "" "" "" "" "00185569" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Spain" "" "0" "" "" "" "" "00185572" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "F" "yes" "Netherlands" "" "0" "" "" "" "" "00185573" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "M" "yes" "Germany" "" "0" "" "" "" "" "00185575" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "no" "Greece" "" "0" "" "" "" "" "00185576" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Canada" "" "0" "" "" "" "" "00185577" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "no" "United States" "" "0" "" "" "" "" "00185580" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00185584" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "M" "no" "Turkey" "" "0" "" "" "" "" "00185590" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0003}" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00185595" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00185599" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00185600" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "" "France" "" "0" "" "" "" "" "00185605" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185609" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "yes" "France" "" "0" "" "" "" "" "00185610" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Norway" "" "0" "" "" "" "" "00185611" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "Germany" "" "0" "" "" "" "" "00185614" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "F" "" "France" "" "0" "" "" "" "" "00185615" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Germany" "" "0" "" "" "" "" "00185616" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "Hungary" "" "0" "" "" "" "" "00185618" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Canada" "" "0" "" "" "" "" "00185619" "" "" "" "1" "" "01815" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "M" "" "United States" "" "0" "" "" "" "" "00185621" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Spain" "" "0" "" "" "" "" "00185625" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Iran" "" "0" "" "" "" "" "00185626" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00185627" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00185628" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "no" "Turkey" "" "0" "" "" "" "" "00185630" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00185631" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00185633" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "F" "" "Belgium" "" "0" "" "" "" "" "00185635" "" "" "" "1" "" "01815" "" "" "" "" "" "" "0" "" "" "" "" "00185636" "" "" "" "1" "" "01815" "{PMID 18671189:Haliloglu 2008}" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00185637" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "" "" "0" "" "" "" "" "00185638" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "" "" "" "" "0" "" "" "" "" "00185639" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "" "" "0" "" "" "" "" "00185640" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "" "" "" "" "0" "" "" "" "" "00185641" "" "" "" "1" "" "01815" "{PMID:Larnaout 2008:18780161}" "" "F" "" "Tunisia" "" "0" "" "" "" "" "00185645" "" "" "" "1" "" "02595" "" "" "M" "yes" "Iran" "" "0" "" "" "Iranian" "" "00185646" "" "" "" "1" "" "02595" "" "" "" "" "Iran" "" "0" "" "" "Iranian" "" "00185647" "" "" "" "1" "" "02595" "" "" "M" "" "United States" "" "0" "" "" "" "" "00185648" "" "" "" "1" "" "02595" "" "" "" "no" "Germany" "" "0" "" "" "" "" "00185649" "" "" "" "1" "" "01815" "{PMID:Larnaout 2008:18780161}" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00185650" "" "" "" "1" "" "01815" "{PMID:Larnaout 2008:18780161}" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00185651" "" "" "" "1" "" "01815" "{PMID:Larnaout 2008:18780161}" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00185652" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00185653" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00185654" "" "" "" "1" "" "01815" "{PMID:Larnaout 2008:18780161}" "" "F" "" "Tunisia" "" "0" "" "" "" "" "00185655" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "M" "no" "Armenia" "" "0" "" "" "Armenian" "" "00185656" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "F" "" "Armenia" "" "0" "" "" "Armenian" "" "00185657" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "M" "" "Armenia" "" "0" "" "" "Armenian" "" "00185658" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "Belgium" "" "0" "" "" "" "" "00185659" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "" "" "0" "" "" "" "" "00185660" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "" "" "0" "" "" "" "" "00185661" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "Brazil" "" "0" "" "" "" "" "00185662" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "Brazil" "" "0" "" "" "" "" "00185663" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Brazil" "" "0" "" "" "" "" "00185664" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Brazil" "" "0" "" "" "" "" "00185666" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Brazil" "" "0" "" "" "" "" "00185667" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "Brazil" "" "0" "" "" "" "" "00185668" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "France" "" "0" "" "" "" "" "00185669" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "France" "" "0" "" "" "" "" "00185670" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "France" "" "0" "" "" "" "" "00185671" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "Germany" "" "0" "" "" "" "" "00185672" "" "" "" "1" "" "01815" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "F" "" "France" "" "0" "" "" "" "" "00185673" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "Germany" "" "0" "" "" "" "" "00185674" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "F" "" "Germany" "" "0" "" "" "" "" "00185675" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "Germany" "" "0" "" "" "" "" "00185676" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "" "Germany" "" "0" "" "" "" "" "00185677" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "France" "" "0" "" "" "" "" "00185678" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "" "F" "" "Belgium" "" "0" "" "" "" "" "00185679" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "F" "" "Germany" "" "0" "" "" "" "" "00185680" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Germany" "" "0" "" "" "" "" "00185681" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Germany" "" "0" "" "" "" "" "00185682" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "Germany" "" "0" "" "" "" "" "00185683" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "France" "" "0" "" "" "" "" "00185684" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "France" "" "0" "" "" "" "" "00185685" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "France" "" "0" "" "" "" "" "00185689" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "United States" "" "0" "" "" "" "" "00185690" "" "" "" "1" "" "01815" "" "" "F" "" "Iran" "" "0" "" "" "" "" "00185692" "" "" "" "1" "" "01815" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "F" "" "Denmark" "" "0" "" "" "" "" "00185693" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "Malaysia" "" "0" "" "" "" "" "00185694" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Malaysia" "" "0" "" "" "" "" "00185695" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "Malaysia" "" "0" "" "" "" "" "00185696" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Germany" "" "0" "" "" "" "" "00185697" "" "" "" "1" "" "01815" "" "" "M" "" "Oman" "" "0" "" "" "" "" "00185698" "" "" "" "1" "" "01815" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185699" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Belgium" "" "0" "" "" "" "" "00185700" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "Italy" "" "0" "" "" "" "" "00185701" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "Italy" "" "0" "" "" "" "" "00185702" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Italy" "" "0" "" "" "" "" "00185703" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Italy" "" "0" "" "" "" "" "00185704" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "United States" "" "0" "" "" "" "" "00185705" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "United States" "" "0" "" "" "" "" "00185706" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "United States" "" "0" "" "" "" "" "00185707" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185708" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185709" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185710" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00185711" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00185712" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00185716" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "F" "" "Greece" "" "0" "" "" "" "" "00185717" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "F" "" "France" "" "0" "" "" "" "" "00185723" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "" "" "0" "" "" "" "" "00185724" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "" "" "0" "" "" "" "" "00185725" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "France" "" "0" "" "" "" "" "00185726" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "F" "" "France" "" "0" "" "" "" "" "00185727" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "France" "" "0" "" "" "" "" "00185728" "" "" "" "1" "" "01815" "" "" "F" "" "" "" "0" "" "" "" "" "00185729" "" "" "" "1" "" "01815" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00185730" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "F" "" "Belgium" "" "0" "" "" "" "" "00185731" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "M" "" "Belgium" "" "0" "" "" "" "" "00185732" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "F" "" "Belgium" "" "0" "" "" "" "" "00185733" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "M" "" "Belgium" "" "0" "" "" "" "" "00185737" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "F" "" "" "" "0" "" "" "" "" "00185738" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "M" "" "" "" "0" "" "" "" "" "00185739" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "M" "" "" "" "0" "" "" "" "" "00185740" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "F" "" "" "" "0" "" "" "" "" "00185741" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "M" "" "" "" "0" "" "" "" "" "00185742" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "consanguineous parents (1st degree)" "M" "yes" "Turkey" "" "0" "" "" "" "" "00185743" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "consanguineous parents (1st degree)" "F" "yes" "Turkey" "" "0" "" "" "" "" "00185744" "" "" "" "1" "" "01815" "{PMID:Topcu 2004:15385440}" "consanguineous parents (1st degree)" "M" "yes" "Turkey" "" "0" "" "" "" "" "00185745" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00185746" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00185747" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00185748" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00185749" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "M" "yes" "Macedonia" "" "0" "" "" "" "" "00185750" "" "" "" "1" "" "01815" "{PMID:Vilarinho 2005:16134148}" "" "F" "" "Macedonia" "" "0" "" "" "" "" "00185751" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "M" "" "Macedonia" "" "0" "" "" "" "" "00185753" "" "" "" "1" "" "01815" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "F" "" "United States" "" "0" "" "" "" "" "00185754" "" "" "" "1" "" "02952" "" "" "F" "" "Russian Federation" "" "0" "" "" "" "" "00185758" "" "" "" "1" "" "01815" "{PMID:Steenweg 2010:20052767}" "" "F" "yes" "Belgium" "" "0" "" "" "" "" "00185759" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00185760" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00185761" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00185762" "" "" "" "1" "" "01815" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00228274" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00265420" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00291050" "" "" "" "27" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306767" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00374362" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5306" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 259 "{{individualid}}" "{{diseaseid}}" "00080963" "01847" "00081046" "01847" "00185377" "01847" "00185378" "01847" "00185380" "01847" "00185381" "01847" "00185382" "01847" "00185383" "01847" "00185384" "01847" "00185385" "01847" "00185386" "01847" "00185387" "01847" "00185388" "01847" "00185390" "01847" "00185391" "01847" "00185392" "01847" "00185393" "01847" "00185394" "01847" "00185395" "01847" "00185397" "01847" "00185398" "01847" "00185399" "01847" "00185400" "01847" "00185401" "01847" "00185402" "01847" "00185403" "01847" "00185404" "01847" "00185405" "01847" "00185406" "01847" "00185407" "01847" "00185408" "01847" "00185410" "01847" "00185411" "01847" "00185412" "01847" "00185413" "01847" "00185414" "01847" "00185415" "01847" "00185416" "01847" "00185418" "01847" "00185419" "01847" "00185420" "01847" "00185421" "01847" "00185422" "01847" "00185423" "01847" "00185424" "01847" "00185425" "01847" "00185426" "01847" "00185427" "01847" "00185428" "01847" "00185429" "01847" "00185430" "01847" "00185431" "01847" "00185432" "01847" "00185433" "01847" "00185434" "01847" "00185435" "01847" "00185436" "01847" "00185437" "01847" "00185438" "01847" "00185439" "01847" "00185440" "01847" "00185441" "01847" "00185442" "01847" "00185443" "01847" "00185444" "01847" "00185445" "01847" "00185446" "01847" "00185447" "01847" "00185450" "01847" "00185454" "01847" "00185458" "01847" "00185461" "01847" "00185462" "01847" "00185465" "01847" "00185469" "01847" "00185474" "01847" "00185475" "01847" "00185476" "01847" "00185479" "01847" "00185481" "01847" "00185482" "01847" "00185483" "01847" "00185485" "01847" "00185487" "01847" "00185488" "01847" "00185490" "01847" "00185494" "01847" "00185496" "01847" "00185500" "01847" "00185501" "01847" "00185504" "01847" "00185505" "01847" "00185508" "01847" "00185511" "01847" "00185513" "01847" "00185515" "01847" "00185516" "01847" "00185517" "01847" "00185518" "01847" "00185521" "01847" "00185523" "01847" "00185524" "01847" "00185525" "01847" "00185528" "01847" "00185530" "01847" "00185531" "01847" "00185534" "01847" "00185537" "01847" "00185540" "01847" "00185542" "01847" "00185543" "01847" "00185544" "01847" "00185547" "01847" "00185550" "01847" "00185551" "01847" "00185552" "01847" "00185555" "01847" "00185560" "01847" "00185563" "01847" "00185564" "01847" "00185568" "01847" "00185569" "01847" "00185572" "01847" "00185573" "01847" "00185575" "01847" "00185576" "01847" "00185577" "01847" "00185580" "01847" "00185584" "01847" "00185590" "01847" "00185595" "01847" "00185599" "01847" "00185600" "01847" "00185605" "01847" "00185609" "01847" "00185610" "01847" "00185611" "01847" "00185614" "01847" "00185615" "01847" "00185616" "01847" "00185618" "01847" "00185619" "01847" "00185621" "01847" "00185625" "01847" "00185626" "01847" "00185627" "01847" "00185628" "01847" "00185630" "01847" "00185631" "01847" "00185633" "01847" "00185635" "00000" "00185636" "01847" "00185637" "00000" "00185638" "00000" "00185639" "00000" "00185640" "00000" "00185641" "01847" "00185645" "01847" "00185646" "01847" "00185647" "01847" "00185648" "01847" "00185649" "01847" "00185650" "01847" "00185651" "01847" "00185652" "01847" "00185653" "01847" "00185654" "01847" "00185655" "01847" "00185656" "00000" "00185657" "00000" "00185658" "01847" "00185659" "01847" "00185660" "01847" "00185661" "01847" "00185662" "00000" "00185663" "00000" "00185664" "01847" "00185666" "00000" "00185667" "00000" "00185668" "01847" "00185669" "00000" "00185670" "00000" "00185671" "01847" "00185672" "01847" "00185673" "01847" "00185674" "00000" "00185675" "00000" "00185676" "00000" "00185677" "01847" "00185678" "01847" "00185679" "01847" "00185680" "01847" "00185681" "00000" "00185682" "00000" "00185683" "01847" "00185684" "00000" "00185685" "00000" "00185689" "01847" "00185690" "01847" "00185692" "01847" "00185693" "01847" "00185694" "01847" "00185695" "01847" "00185696" "01847" "00185697" "01847" "00185698" "01847" "00185699" "01847" "00185700" "01847" "00185701" "00000" "00185702" "00000" "00185703" "00000" "00185704" "01847" "00185705" "00000" "00185706" "00000" "00185707" "01847" "00185708" "00000" "00185709" "00000" "00185710" "01847" "00185711" "00000" "00185712" "00000" "00185716" "01847" "00185717" "01847" "00185723" "01847" "00185724" "00000" "00185725" "01847" "00185726" "00000" "00185727" "00000" "00185728" "01847" "00185729" "00000" "00185730" "01847" "00185731" "01847" "00185732" "00000" "00185733" "00000" "00185737" "01847" "00185738" "01847" "00185739" "01847" "00185740" "00000" "00185741" "00000" "00185742" "01847" "00185743" "00000" "00185744" "00000" "00185745" "01847" "00185746" "00000" "00185747" "00000" "00185748" "01847" "00185749" "01847" "00185750" "00000" "00185751" "00000" "00185753" "01847" "00185754" "01847" "00185758" "01847" "00185759" "01847" "00185760" "01847" "00185761" "01847" "00185762" "01847" "00228274" "00198" "00291050" "00198" "00306767" "00198" "00374362" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01847 ## Count = 259 "{{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}}" "0000060532" "01847" "00080963" "01758" "Familial, autosomal recessive" "" "L-2-hydroxyglutaric aciduria (OMIM:236792)" "" "" "" "" "" "" "" "" "" "" "" "0000060615" "01847" "00081046" "01758" "Familial, autosomal recessive" "" "L-2-hydroxyglutaric aciduria (OMIM:236792)" "" "" "" "" "" "" "" "" "" "" "" "0000145508" "01847" "00185377" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145509" "01847" "00185378" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145511" "01847" "00185380" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145512" "01847" "00185381" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145513" "01847" "00185382" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145514" "01847" "00185383" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145515" "01847" "00185384" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145516" "01847" "00185385" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145517" "01847" "00185386" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145518" "01847" "00185387" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145519" "01847" "00185388" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145521" "01847" "00185390" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145522" "01847" "00185391" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145523" "01847" "00185392" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145524" "01847" "00185393" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145525" "01847" "00185394" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145526" "01847" "00185395" "01815" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145528" "01847" "00185397" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145529" "01847" "00185398" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145530" "01847" "00185399" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145531" "01847" "00185400" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145532" "01847" "00185401" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145533" "01847" "00185402" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145534" "01847" "00185403" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145535" "01847" "00185404" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145536" "01847" "00185405" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145537" "01847" "00185406" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145538" "01847" "00185407" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145539" "01847" "00185408" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145541" "01847" "00185410" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145542" "01847" "00185411" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145543" "01847" "00185412" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145544" "01847" "00185413" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145545" "01847" "00185414" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145546" "01847" "00185415" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145547" "01847" "00185416" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145549" "01847" "00185418" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145550" "01847" "00185419" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145551" "01847" "00185420" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145552" "01847" "00185421" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145553" "01847" "00185422" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145554" "01847" "00185423" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145555" "01847" "00185424" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145556" "01847" "00185425" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145557" "01847" "00185426" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145558" "01847" "00185427" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145559" "01847" "00185428" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145560" "01847" "00185429" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145561" "01847" "00185430" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145562" "01847" "00185431" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145563" "01847" "00185432" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145564" "01847" "00185433" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145565" "01847" "00185434" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145566" "01847" "00185435" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145567" "01847" "00185436" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145568" "01847" "00185437" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145569" "01847" "00185438" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145570" "01847" "00185439" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145571" "01847" "00185440" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145572" "01847" "00185441" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145573" "01847" "00185442" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145574" "01847" "00185443" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145575" "01847" "00185444" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145576" "01847" "00185445" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145577" "01847" "00185446" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145578" "01847" "00185447" "01815" "Isolated (sporadic)" "" "developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones" "7m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145581" "01847" "00185450" "01815" "Isolated (sporadic)" "" "walk 17m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; no loss of milestones" "18m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145585" "01847" "00185454" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145589" "01847" "00185458" "01815" "Isolated (sporadic)" "" "walk 15m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones" "42m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145592" "01847" "00185461" "01815" "Isolated (sporadic)" "" "walk 15m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "8m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145593" "01847" "00185462" "01815" "Familial, autosomal recessive" "" "walk 20m; developmental delay; no epilepsy; no cereballar ataxia; no macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones" "4m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145596" "01847" "00185465" "01815" "Familial, autosomal recessive" "" "walk 13m; no developmental delay; epilepsy; no cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "10m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145600" "01847" "00185469" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145605" "01847" "00185474" "01815" "Familial, autosomal recessive" "" "walk 13m; no developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "9m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145606" "01847" "00185475" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145607" "01847" "00185476" "01815" "Isolated (sporadic)" "" "walk 18m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; behavioral problems; loss of milestones" "12m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145610" "01847" "00185479" "01815" "Familial, autosomal recessive" "" "walk 18m; developmental delay; epilepsy; cereballar ataxia; no extrapyramidal signs; behavioral problems; loss of milestones" "18m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145612" "01847" "00185481" "01815" "Familial, autosomal recessive" "" "walk 30m; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; loss of milestones" "30m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145613" "01847" "00185482" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145614" "01847" "00185483" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145616" "01847" "00185485" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145618" "01847" "00185487" "01815" "Isolated (sporadic)" "" "walk 24m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "13y6m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145619" "01847" "00185488" "01815" "Familial, autosomal recessive" "" "no developmental delay; epilepsy; no cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "12m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145621" "01847" "00185490" "01815" "Isolated (sporadic)" "" "developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; behavioral problems; loss of milestones" "18m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145625" "01847" "00185494" "01815" "Familial, autosomal recessive" "" "developmental delay; epilepsy; cereballar ataxia; no extrapyramidal signs; no behavioral problems; no loss of milestones" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145627" "01847" "00185496" "01815" "Familial, autosomal recessive" "" "walk 18m; developmental delay; epilepsy; no cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones" "30m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145631" "01847" "00185500" "01815" "Isolated (sporadic)" "" "walk 20m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; behavioral problems; no loss of milestones" "6m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145632" "01847" "00185501" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145635" "01847" "00185504" "01815" "Familial, autosomal recessive" "" "walk 48m; developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "6m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145636" "01847" "00185505" "01815" "Isolated (sporadic)" "" "developmental delay; epilepsy; cereballar ataxia; no extrapyramidal signs; behavioral problems; loss of milestones" "23y" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145639" "01847" "00185508" "01815" "Isolated (sporadic)" "" "walk 14m; developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "72m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145642" "01847" "00185511" "01815" "Familial, autosomal recessive" "" "walk 18m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; no behavioral problems; no loss of milestones" "36m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145644" "01847" "00185513" "01815" "Isolated (sporadic)" "" "walk 19m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones" "17m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145646" "01847" "00185515" "01815" "Familial, autosomal recessive" "" "walk 20m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones" "12m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145647" "01847" "00185516" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145648" "01847" "00185517" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145649" "01847" "00185518" "01815" "Isolated (sporadic)" "" "walk 13m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones" "8m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145652" "01847" "00185521" "01815" "Isolated (sporadic)" "" "walk 16m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "36m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145654" "01847" "00185523" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145655" "01847" "00185524" "01815" "Familial, autosomal recessive" "" "walk 24m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones" "18m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145656" "01847" "00185525" "01815" "Familial, autosomal recessive" "" "walk 24m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; loss of milestones" "24m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145659" "01847" "00185528" "01815" "Familial, autosomal recessive" "" "walk 12m; developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "54m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145661" "01847" "00185530" "01815" "Familial, autosomal recessive" "" "walk 42m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "4m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145662" "01847" "00185531" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145665" "01847" "00185534" "01815" "Familial, autosomal recessive" "" "walk 15m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "28m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145668" "01847" "00185537" "01815" "Isolated (sporadic)" "" "walk 20m; developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "18m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145671" "01847" "00185540" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145673" "01847" "00185542" "01815" "Isolated (sporadic)" "" "walk 13m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones" "0m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145674" "01847" "00185543" "01815" "Familial, autosomal recessive" "" "walk 36m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; loss of milestones" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145675" "01847" "00185544" "01815" "Familial, autosomal recessive" "" "developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145678" "01847" "00185547" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145681" "01847" "00185550" "01815" "Isolated (sporadic)" "" "walk 18m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones" "34m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145682" "01847" "00185551" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145683" "01847" "00185552" "01815" "Familial, autosomal recessive" "" "walk 16m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; loss of milestones" "60m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145686" "01847" "00185555" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145691" "01847" "00185560" "01815" "Familial, autosomal recessive" "" "walk 27m; developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "27m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145694" "01847" "00185563" "01815" "Isolated (sporadic)" "" "walk 17m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "48m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145695" "01847" "00185564" "01815" "Familial, autosomal recessive" "" "developmental delay; epilepsy; no cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "36m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145699" "01847" "00185568" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145700" "01847" "00185569" "01815" "Familial, autosomal recessive" "" "walk 36m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145703" "01847" "00185572" "01815" "Familial, autosomal recessive" "" "walk 18m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "24m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145704" "01847" "00185573" "01815" "Familial, autosomal recessive" "" "walk 24m; developmental delay; epilepsy; no cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145706" "01847" "00185575" "01815" "Isolated (sporadic)" "" "walk 19m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones" "4m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145707" "01847" "00185576" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145708" "01847" "00185577" "01815" "Isolated (sporadic)" "" "developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones" "48m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145711" "01847" "00185580" "01815" "Familial, autosomal recessive" "" "walk 30m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones" "18m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145715" "01847" "00185584" "01815" "Isolated (sporadic)" "" "walk 30m; developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs; no behavioral problems; no loss of milestones" "18m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145721" "01847" "00185590" "01815" "Familial, autosomal recessive" "" "walk 20m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no loss of milestones" "20m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145726" "01847" "00185595" "01815" "Familial, autosomal recessive" "" "walk 18m; developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones" "7m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145730" "01847" "00185599" "01815" "Familial, autosomal recessive" "" "walk 18m; no developmental delay; epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones" "8m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145731" "01847" "00185600" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145736" "01847" "00185605" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145740" "01847" "00185609" "01815" "Familial, autosomal recessive" "" "developmental delay; epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; behavioral problems; no loss of milestones" "9m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145741" "01847" "00185610" "01815" "Isolated (sporadic)" "" "walk 18m; developmental delay; epilepsy; no cereballar ataxia; macrocephaly; no extrapyramidal signs; no behavioral problems; no loss of milestones" "12m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145742" "01847" "00185611" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145745" "01847" "00185614" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145746" "01847" "00185615" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145747" "01847" "00185616" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145749" "01847" "00185618" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145750" "01847" "00185619" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145752" "01847" "00185621" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145756" "01847" "00185625" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145757" "01847" "00185626" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145758" "01847" "00185627" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145759" "01847" "00185628" "01815" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145761" "01847" "00185630" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145762" "01847" "00185631" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145764" "01847" "00185633" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145766" "00000" "00185635" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145767" "01847" "00185636" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145768" "00000" "00185637" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145769" "00000" "00185638" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145770" "00000" "00185639" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145771" "00000" "00185640" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145772" "01847" "00185641" "01815" "Familial, autosomal recessive" "" "developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs" "60m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145776" "01847" "00185645" "02595" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145777" "01847" "00185646" "02595" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145778" "01847" "00185647" "02595" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145779" "01847" "00185648" "02595" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145780" "01847" "00185649" "01815" "Familial, autosomal recessive" "" "developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs" "12y" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145781" "01847" "00185650" "01815" "Familial, autosomal recessive" "" "developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs" "48m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145782" "01847" "00185651" "01815" "Familial, autosomal recessive" "" "developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs" "78m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145783" "01847" "00185652" "01815" "Familial, autosomal recessive" "" "developmental delay; no epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs" "60m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145784" "01847" "00185653" "01815" "Familial, autosomal recessive" "" "developmental delay; epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs" "84m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145785" "01847" "00185654" "01815" "Familial, autosomal recessive" "" "developmental delay; no epilepsy; cereballar ataxia; no macrocephaly; extrapyramidal signs" "84m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145786" "01847" "00185655" "01815" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145787" "00000" "00185656" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145788" "00000" "00185657" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145789" "01847" "00185658" "01815" "Familial, autosomal recessive" "" "walk 24m; developmental delay; epilepsy; no cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems;" "3m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145790" "01847" "00185659" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145791" "01847" "00185660" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145792" "01847" "00185661" "01815" "Familial, autosomal recessive" "" "developmental delay; epilepsy; cereballar ataxia; no macrocephaly; no extrapyramidal signs; no behavioral problems;" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145793" "00000" "00185662" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145794" "00000" "00185663" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145795" "01847" "00185664" "01815" "Familial, autosomal recessive" "" "walk 13m; no epilepsy; cereballar ataxia; macrocephaly; no extrapyramidal signs; behavioral problems" "2m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145797" "00000" "00185666" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145798" "00000" "00185667" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145799" "01847" "00185668" "01815" "Familial, autosomal recessive" "" "walk 14m; no epilepsy; no cereballar ataxia; no behavioral problems" "2m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145800" "00000" "00185669" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145801" "00000" "00185670" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145802" "01847" "00185671" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145803" "01847" "00185672" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145804" "01847" "00185673" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145805" "00000" "00185674" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145806" "00000" "00185675" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145807" "00000" "00185676" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145808" "01847" "00185677" "01815" "Familial, autosomal recessive" "" "" "7m" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145809" "01847" "00185678" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145810" "01847" "00185679" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145811" "01847" "00185680" "01815" "Familial, autosomal recessive" "" "developmental delay; macrocephaly" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145812" "00000" "00185681" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145813" "00000" "00185682" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145814" "01847" "00185683" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145815" "00000" "00185684" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145816" "00000" "00185685" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145820" "01847" "00185689" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145821" "01847" "00185690" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145823" "01847" "00185692" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145824" "01847" "00185693" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145825" "01847" "00185694" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145826" "01847" "00185695" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145827" "01847" "00185696" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145828" "01847" "00185697" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145829" "01847" "00185698" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145830" "01847" "00185699" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145831" "01847" "00185700" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145832" "00000" "00185701" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145833" "00000" "00185702" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145834" "00000" "00185703" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145835" "01847" "00185704" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145836" "00000" "00185705" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145837" "00000" "00185706" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145838" "01847" "00185707" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145839" "00000" "00185708" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145840" "00000" "00185709" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145841" "01847" "00185710" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145842" "00000" "00185711" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145843" "00000" "00185712" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145847" "01847" "00185716" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145848" "01847" "00185717" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145854" "01847" "00185723" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145855" "00000" "00185724" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145856" "01847" "00185725" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145857" "00000" "00185726" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145858" "00000" "00185727" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145859" "01847" "00185728" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145860" "00000" "00185729" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145861" "01847" "00185730" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145862" "01847" "00185731" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145863" "00000" "00185732" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145864" "00000" "00185733" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145868" "01847" "00185737" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145869" "01847" "00185738" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145870" "01847" "00185739" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145871" "00000" "00185740" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145872" "00000" "00185741" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145873" "01847" "00185742" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145874" "00000" "00185743" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145875" "00000" "00185744" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145876" "01847" "00185745" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145877" "00000" "00185746" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145878" "00000" "00185747" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145879" "01847" "00185748" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145880" "01847" "00185749" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145881" "00000" "00185750" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145882" "00000" "00185751" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145884" "01847" "00185753" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145885" "01847" "00185754" "02952" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145889" "01847" "00185758" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145890" "01847" "00185759" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145891" "01847" "00185760" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145892" "01847" "00185761" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000145893" "01847" "00185762" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "L2HGA" "L2HGA" "" "0000172205" "00198" "00228274" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Dystonia (HP:0001332); Seizures (HP:0001250); Encephalopathy (HP:0001298)" "" "" "" "" "" "" "" "" "" "" "" "0000203224" "00198" "00265420" "01164" "Unknown" "" "Behavioral abnormality (HP:0000708); Global developmental delay (HP:0001263); Neurodevelopmental abnormality (HP:0012759)" "" "" "" "" "" "" "" "" "" "" "" "0000232595" "00198" "00306767" "01164" "Unknown" "" "Glutaric aciduria (HP:0003150)" "" "" "" "" "" "" "" "" "" "" "" "0000269572" "00198" "00374362" "00006" "Familial, autosomal recessive" "" "Global developmental delay, seizures, spastic gait, brisk distal tendon reflex in the lower limbs and bilateral ankle clonus" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 260 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081075" "00080963" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081158" "00081046" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000186343" "00185377" "1" "01815" "01815" "2016-01-05 14:59:56" "" "" "SEQ;MLPA" "DNA" "" "" "0000186344" "00185378" "1" "01815" "01815" "2016-01-05 14:59:56" "" "" "SEQ;MLPA" "DNA" "" "" "0000186346" "00185380" "1" "01815" "01815" "2016-01-05 14:59:56" "" "" "SEQ" "DNA" "" "" "0000186347" "00185381" "1" "01815" "01815" "2016-01-05 14:59:56" "" "" "SEQ" "DNA" "" "" "0000186348" "00185382" "1" "01815" "01815" "2016-01-05 14:59:56" "" "" "SEQ" "DNA" "" "" "0000186349" "00185383" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186350" "00185384" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186351" "00185385" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186352" "00185386" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186353" "00185387" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186354" "00185388" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186356" "00185390" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186357" "00185391" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186358" "00185392" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;PCR" "DNA" "" "" "0000186359" "00185393" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186360" "00185394" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186361" "00185395" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186363" "00185397" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186364" "00185398" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186365" "00185399" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186366" "00185400" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186367" "00185401" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;PCR" "DNA" "" "" "0000186368" "00185402" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186369" "00185403" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186370" "00185404" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA;RNA" "" "" "0000186371" "00185405" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186372" "00185406" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA;RNA" "" "" "0000186373" "00185407" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186374" "00185408" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186376" "00185410" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA;RNA" "" "" "0000186377" "00185411" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186378" "00185412" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186379" "00185413" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186380" "00185414" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186381" "00185415" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA;RNA" "" "" "0000186382" "00185416" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186384" "00185418" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA;RNA" "" "" "0000186385" "00185419" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186386" "00185420" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186387" "00185421" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186388" "00185422" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186389" "00185423" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186390" "00185424" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186391" "00185425" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186392" "00185426" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186393" "00185427" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186394" "00185428" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186395" "00185429" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186396" "00185430" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186397" "00185431" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186398" "00185432" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186399" "00185433" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186400" "00185434" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186401" "00185435" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186402" "00185436" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186403" "00185437" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186404" "00185438" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186405" "00185439" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186406" "00185440" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186407" "00185441" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186408" "00185442" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186409" "00185443" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186410" "00185444" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186411" "00185445" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186412" "00185446" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186413" "00185447" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186416" "00185450" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186420" "00185454" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186424" "00185458" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186427" "00185461" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186428" "00185462" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;PCR;MLPA" "DNA" "" "" "0000186431" "00185465" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186435" "00185469" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA;RNA" "" "" "0000186440" "00185474" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186441" "00185475" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186442" "00185476" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186445" "00185479" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186447" "00185481" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186448" "00185482" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186449" "00185483" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186451" "00185485" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186453" "00185487" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186454" "00185488" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186456" "00185490" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186460" "00185494" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186462" "00185496" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;PCR;MLPA" "DNA" "" "" "0000186466" "00185500" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186467" "00185501" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;PCR;MLPA" "DNA" "" "" "0000186470" "00185504" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186471" "00185505" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186474" "00185508" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186477" "00185511" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186479" "00185513" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186481" "00185515" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "MLPA;SEQ" "DNA" "" "" "0000186482" "00185516" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA;RNA" "" "" "0000186483" "00185517" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186484" "00185518" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186487" "00185521" "1" "01815" "01815" "2016-01-05 14:59:57" 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"2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186696" "00185730" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186697" "00185731" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186698" "00185732" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186699" "00185733" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186703" "00185737" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186704" "00185738" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186705" "00185739" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186706" "00185740" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186707" "00185741" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186708" "00185742" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186709" "00185743" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186710" "00185744" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186711" "00185745" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186712" "00185746" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186713" "00185747" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186714" "00185748" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA;RNA" "" "" "0000186715" "00185749" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186716" "00185750" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ;MLPA" "DNA" "" "" "0000186717" "00185751" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA" "" "" "0000186719" "00185753" "1" "01815" "01815" "2016-01-05 14:59:57" "" "" "SEQ" "DNA;RNA" "" "" "0000186720" "00185754" "1" "02952" "01815" "2016-04-17 20:50:10" "" "" "SEQ" "DNA" "" "" "0000186724" "00185758" "1" "01815" "01815" "2016-05-06 16:17:03" "" "" "SEQ;PCR;MLPA" "DNA" "" "" "0000186725" "00185759" "1" "01815" "01815" "2016-05-06 16:17:03" "" "" "SEQ" "DNA" "" "" "0000186726" "00185760" "1" "01815" "01815" "2016-05-06 16:17:03" "" "" "SEQ" "DNA" "" "" "0000186727" "00185761" "1" "01815" "01815" "2016-05-06 16:17:03" "" "" "SEQ" "DNA" "" "" "0000186728" "00185762" "1" "01815" "01815" "2016-05-06 16:17:03" "" "" "SEQ" "DNA" "" "" "0000229364" "00228274" "1" "01807" "01807" "2019-03-22 15:04:53" "" "" "SEQ" "DNA" "" "" "0000266546" "00265420" "1" "01164" "01164" "2019-09-25 09:37:03" "" "" "SEQ-NG-S" "DNA" "" "" "0000292218" "00291050" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307903" "00306767" "1" "01164" "01164" "2020-07-20 10:26:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000375556" "00374362" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 256 "{{screeningid}}" "{{geneid}}" "0000081075" "L2HGDH" "0000081158" "L2HGDH" "0000186343" "L2HGDH" "0000186344" "L2HGDH" "0000186346" "L2HGDH" "0000186347" "L2HGDH" "0000186348" "L2HGDH" "0000186349" "L2HGDH" "0000186350" "L2HGDH" "0000186351" "L2HGDH" "0000186352" "L2HGDH" "0000186353" "L2HGDH" "0000186354" "L2HGDH" "0000186356" "L2HGDH" "0000186357" "L2HGDH" "0000186358" "L2HGDH" "0000186359" "L2HGDH" "0000186360" "L2HGDH" "0000186361" "L2HGDH" "0000186363" "L2HGDH" "0000186364" "L2HGDH" "0000186365" "L2HGDH" "0000186366" "L2HGDH" "0000186367" "L2HGDH" "0000186368" "L2HGDH" "0000186369" "L2HGDH" "0000186370" "L2HGDH" "0000186371" "L2HGDH" "0000186372" "L2HGDH" "0000186373" "L2HGDH" "0000186374" "L2HGDH" "0000186376" "L2HGDH" "0000186377" "L2HGDH" "0000186378" "L2HGDH" "0000186379" "L2HGDH" "0000186380" "L2HGDH" "0000186381" "L2HGDH" "0000186382" "L2HGDH" "0000186384" "L2HGDH" "0000186385" "L2HGDH" "0000186386" "L2HGDH" "0000186387" "L2HGDH" "0000186388" "L2HGDH" "0000186389" "L2HGDH" "0000186390" "L2HGDH" "0000186391" "L2HGDH" "0000186392" "L2HGDH" "0000186393" "L2HGDH" "0000186394" "L2HGDH" "0000186395" "L2HGDH" "0000186396" "L2HGDH" "0000186397" "L2HGDH" "0000186398" "L2HGDH" "0000186399" "L2HGDH" "0000186400" "L2HGDH" "0000186401" "L2HGDH" "0000186402" "L2HGDH" "0000186403" "L2HGDH" "0000186404" "L2HGDH" "0000186405" "L2HGDH" "0000186406" "L2HGDH" "0000186407" "L2HGDH" "0000186408" "L2HGDH" "0000186409" "L2HGDH" "0000186410" "L2HGDH" "0000186411" "L2HGDH" "0000186412" "L2HGDH" "0000186413" "L2HGDH" "0000186416" "L2HGDH" "0000186420" "L2HGDH" "0000186424" "L2HGDH" "0000186427" "L2HGDH" "0000186428" "L2HGDH" "0000186431" "L2HGDH" "0000186435" "L2HGDH" "0000186440" "L2HGDH" "0000186441" "L2HGDH" "0000186442" "L2HGDH" "0000186445" "L2HGDH" "0000186447" "L2HGDH" "0000186448" "L2HGDH" "0000186449" "L2HGDH" "0000186451" "L2HGDH" "0000186453" "L2HGDH" "0000186454" "L2HGDH" "0000186456" "L2HGDH" "0000186460" "L2HGDH" "0000186462" "L2HGDH" "0000186466" "L2HGDH" "0000186467" "L2HGDH" "0000186470" "L2HGDH" "0000186471" "L2HGDH" "0000186474" "L2HGDH" "0000186477" "L2HGDH" "0000186479" "L2HGDH" "0000186481" "L2HGDH" "0000186482" "L2HGDH" "0000186483" "L2HGDH" "0000186484" "L2HGDH" "0000186487" "L2HGDH" "0000186489" "L2HGDH" "0000186490" "L2HGDH" "0000186491" "L2HGDH" "0000186494" "L2HGDH" "0000186496" "L2HGDH" "0000186497" "L2HGDH" "0000186500" "L2HGDH" "0000186503" "L2HGDH" "0000186506" "L2HGDH" "0000186508" "L2HGDH" "0000186509" "L2HGDH" "0000186510" "L2HGDH" "0000186513" "L2HGDH" "0000186516" "L2HGDH" "0000186517" "L2HGDH" "0000186518" "L2HGDH" "0000186521" "L2HGDH" "0000186526" "L2HGDH" "0000186529" "L2HGDH" "0000186530" "L2HGDH" "0000186534" "L2HGDH" "0000186535" "L2HGDH" "0000186538" "L2HGDH" "0000186539" "L2HGDH" "0000186541" "L2HGDH" "0000186542" "L2HGDH" "0000186543" "L2HGDH" "0000186546" "L2HGDH" "0000186550" "L2HGDH" "0000186556" "L2HGDH" "0000186561" "L2HGDH" "0000186565" "L2HGDH" "0000186566" "L2HGDH" "0000186571" "L2HGDH" "0000186575" "L2HGDH" "0000186576" "L2HGDH" "0000186577" "L2HGDH" "0000186580" "L2HGDH" "0000186581" "L2HGDH" "0000186582" "L2HGDH" "0000186584" "L2HGDH" "0000186585" "L2HGDH" "0000186587" "L2HGDH" "0000186591" "L2HGDH" "0000186592" "L2HGDH" "0000186593" "L2HGDH" "0000186594" "L2HGDH" "0000186596" "L2HGDH" "0000186597" "L2HGDH" "0000186599" "L2HGDH" "0000186601" "L2HGDH" "0000186602" "L2HGDH" "0000186603" "L2HGDH" "0000186604" "L2HGDH" "0000186605" "L2HGDH" "0000186606" "L2HGDH" "0000186607" "L2HGDH" "0000186611" "L2HGDH" "0000186612" "L2HGDH" "0000186613" "L2HGDH" "0000186614" "L2HGDH" "0000186615" "L2HGDH" "0000186616" "L2HGDH" "0000186617" "L2HGDH" "0000186618" "L2HGDH" "0000186619" "L2HGDH" "0000186620" "L2HGDH" "0000186621" "L2HGDH" "0000186622" "L2HGDH" "0000186623" "L2HGDH" "0000186624" "L2HGDH" "0000186625" "L2HGDH" "0000186626" "L2HGDH" "0000186627" "L2HGDH" "0000186628" "L2HGDH" "0000186629" "L2HGDH" "0000186630" "L2HGDH" "0000186632" "L2HGDH" "0000186633" "L2HGDH" "0000186634" "L2HGDH" "0000186635" "L2HGDH" "0000186636" "L2HGDH" "0000186637" "L2HGDH" "0000186638" "L2HGDH" "0000186639" "L2HGDH" "0000186640" "L2HGDH" "0000186641" "L2HGDH" "0000186642" "L2HGDH" "0000186643" "L2HGDH" "0000186644" "L2HGDH" "0000186645" "L2HGDH" "0000186646" "L2HGDH" "0000186647" "L2HGDH" "0000186648" "L2HGDH" "0000186649" "L2HGDH" "0000186650" "L2HGDH" "0000186651" "L2HGDH" "0000186655" "L2HGDH" "0000186656" "L2HGDH" "0000186658" "L2HGDH" "0000186659" "L2HGDH" "0000186660" "L2HGDH" "0000186661" "L2HGDH" "0000186662" "L2HGDH" "0000186663" "L2HGDH" "0000186664" "L2HGDH" "0000186665" "L2HGDH" "0000186666" "L2HGDH" "0000186667" "L2HGDH" "0000186668" "L2HGDH" "0000186669" "L2HGDH" "0000186670" "L2HGDH" "0000186671" "L2HGDH" "0000186672" "L2HGDH" "0000186673" "L2HGDH" "0000186674" "L2HGDH" "0000186675" "L2HGDH" "0000186676" "L2HGDH" "0000186677" "L2HGDH" "0000186678" "L2HGDH" "0000186682" "L2HGDH" "0000186683" "L2HGDH" "0000186689" "L2HGDH" "0000186690" "L2HGDH" "0000186691" "L2HGDH" "0000186692" "L2HGDH" "0000186693" "L2HGDH" "0000186694" "L2HGDH" "0000186695" "L2HGDH" "0000186696" "L2HGDH" "0000186697" "L2HGDH" "0000186698" "L2HGDH" "0000186699" "L2HGDH" "0000186703" "L2HGDH" "0000186704" "L2HGDH" "0000186705" "L2HGDH" "0000186706" "L2HGDH" "0000186707" "L2HGDH" "0000186708" "L2HGDH" "0000186709" "L2HGDH" "0000186710" "L2HGDH" "0000186711" "L2HGDH" "0000186712" "L2HGDH" "0000186713" "L2HGDH" "0000186714" "L2HGDH" "0000186715" "L2HGDH" "0000186716" "L2HGDH" "0000186717" "L2HGDH" "0000186719" "L2HGDH" "0000186720" "L2HGDH" "0000186724" "L2HGDH" "0000186725" "L2HGDH" "0000186726" "L2HGDH" "0000186727" "L2HGDH" "0000186728" "L2HGDH" "0000375556" "L2HGDH" ## 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 = 435 "{{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}}" "0000130161" "3" "90" "14" "50734520" "50734520" "del" "0" "01758" "L2HGDH_000015" "g.50734520del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.50267802del" "" "pathogenic" "ACMG" "0000130244" "3" "70" "14" "50713849" "50713849" "subst" "0" "01758" "L2HGDH_000024" "g.50713849G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.50247131G>T" "" "likely pathogenic" "ACMG" "0000248823" "0" "10" "14" "50778816" "50778816" "subst" "0.566033" "02325" "L2HGDH_000079" "g.50778816A>C" "" "" "" "L2HGDH(NM_024884.3):c.53T>G (p.L18R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50312098A>C" "" "benign" "" "0000248934" "0" "10" "14" "50750699" "50750699" "subst" "0" "02325" "L2HGDH_000121" "g.50750699A>C" "" "" "" "L2HGDH(NM_024884.3):c.593T>G (p.V198G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50283981A>C" "" "benign" "" "0000249189" "0" "10" "14" "50750577" "50750577" "subst" "0.538041" "02325" "L2HGDH_000009" "g.50750577A>G" "" "" "" "L2HGDH(NM_024884.3):c.703+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50283859A>G" "" "benign" "" "0000281954" "0" "50" "14" "50713900" "50713900" "subst" "0" "02325" "L2HGDH_000006" "g.50713900G>C" "" "" "" "L2HGDH(NM_024884.3):c.1268C>G (p.A423G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50247182G>C" "" "VUS" "" "0000281955" "0" "10" "14" "50769717" "50769717" "subst" "0.564868" "02325" "L2HGDH_000123" "g.50769717G>A" "" "" "" "L2HGDH(NM_024884.3):c.159C>T (p.I53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50302999G>A" "" "benign" "" "0000281956" "0" "10" "14" "50704331" "50704331" "subst" "0.874739" "02325" "L2HGDH_000005" "g.50704331C>T" "" "" "" "L2HGDH(NM_024884.3):NULL" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50237613C>T" "" "benign" "" "0000290611" "0" "90" "14" "50769668" "50769668" "subst" "0.000012189" "01943" "L2HGDH_000029" "g.50769668G>A" "" "" "" "L2HGDH(NM_024884.2):c.208C>T (p.R70*), L2HGDH(NM_024884.3):c.208C>T (p.R70*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50302950G>A" "" "pathogenic" "" "0000323676" "0" "50" "14" "50713954" "50713954" "subst" "0" "01804" "L2HGDH_000007" "g.50713954C>T" "" "" "" "L2HGDH(NM_024884.2):c.1214G>A (p.(Arg405Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50247236C>T" "" "VUS" "" "0000323677" "0" "50" "14" "50734529" "50734529" "subst" "0" "01804" "L2HGDH_000013" "g.50734529C>T" "" "" "" "L2HGDH(NM_024884.2):c.1006G>A (p.(Glu336Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50267811C>T" "" "VUS" "" "0000323678" "0" "50" "14" "50750645" "50750645" "subst" "0.00165337" "01804" "L2HGDH_000120" "g.50750645T>C" "" "" "" "L2HGDH(NM_024884.2):c.647A>G (p.(Asn216Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50283927T>C" "" "VUS" "" "0000412207" "3" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412208" "3" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412210" "3" "90" "14" "50732166" "50732166" "del" "0" "01815" "L2HGDH_000019" "g.50732166del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "1115delT" "" "Germline" "" "" "0" "" "" "g.50265448del" "" "pathogenic (recessive)" "" "0000412211" "3" "90" "14" "50732166" "50732166" "del" "0" "01815" "L2HGDH_000019" "g.50732166del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "1115delT" "" "Germline" "" "" "0" "" "" "g.50265448del" "" "pathogenic (recessive)" "" "0000412212" "3" "70" "14" "50768851" "50768851" "subst" "0" "01815" "L2HGDH_000033" "g.50768851G>A" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50302133G>A" "" "likely pathogenic (recessive)" "" "0000412213" "3" "70" "14" "50768851" "50768851" "subst" "0" "01815" "L2HGDH_000033" "g.50768851G>A" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50302133G>A" "" "likely pathogenic (recessive)" "" "0000412214" "3" "90" "14" "50736050" "50736050" "subst" "0" "01815" "L2HGDH_000062" "g.50736050T>C" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50269332T>C" "" "pathogenic (recessive)" "" "0000412215" "3" "90" "14" "50736050" "50736050" "subst" "0" "01815" "L2HGDH_000062" "g.50736050T>C" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50269332T>C" "" "pathogenic (recessive)" "" "0000412216" "3" "90" "14" "50735880" "50735880" "subst" "0" "01815" "L2HGDH_000074" "g.50735880C>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.50269162C>A" "" "pathogenic (recessive)" "" "0000412217" "3" "90" "14" "50735880" "50735880" "subst" "0" "01815" "L2HGDH_000074" "g.50735880C>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.50269162C>A" "" "pathogenic (recessive)" "" "0000412218" "3" "90" "14" "50732166" "50732166" "del" "0" "01815" "L2HGDH_000019" "g.50732166del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "1115delT" "" "Germline" "" "" "0" "" "" "g.50265448del" "" "pathogenic (recessive)" "" "0000412220" "3" "90" "14" "50760914" "50760914" "subst" "0" "01815" "L2HGDH_000042" "g.50760914A>T" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50294196A>T" "" "pathogenic (recessive)" "" "0000412221" "3" "90" "14" "50734532" "50734532" "subst" "0" "01815" "L2HGDH_000012" "g.50734532G>A" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50267814G>A" "" "pathogenic (recessive)" "" "0000412222" "3" "90" "14" "50732077" "50778871" "del" "0" "01815" "L2HGDH_000011" "g.50732077_50778871del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0005}" "" "del exon 1-9" "" "Germline" "" "" "0" "" "" "g.50265359_50312153del" "" "pathogenic (recessive)" "" "0000412223" "3" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412224" "3" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412225" "3" "70" "14" "50768851" "50768851" "subst" "0" "01815" "L2HGDH_000033" "g.50768851G>A" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50302133G>A" "" "likely pathogenic (recessive)" "" "0000412227" "3" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" 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"01815" "L2HGDH_000024" "g.50713849G>T" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50247131G>T" "" "likely pathogenic (recessive)" "" "0000412288" "1" "70" "14" "50760906" "50760906" "subst" "0" "01815" "L2HGDH_000043" "g.50760906C>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50294188C>A" "" "likely pathogenic (recessive)" "" "0000412289" "2" "70" "14" "50713849" "50713849" "subst" "0" "01815" "L2HGDH_000024" "g.50713849G>T" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50247131G>T" "" "likely pathogenic (recessive)" "" "0000412290" "1" "70" "14" "50760906" "50760906" "subst" "0" "01815" "L2HGDH_000043" "g.50760906C>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50294188C>A" "" "likely pathogenic (recessive)" "" "0000412291" "2" "70" "14" "50713849" "50713849" "subst" "0" "01815" "L2HGDH_000024" "g.50713849G>T" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50247131G>T" "" "likely pathogenic (recessive)" "" "0000412292" "1" "70" "14" "50760906" "50760906" "subst" "0" "01815" "L2HGDH_000043" "g.50760906C>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50294188C>A" "" "likely pathogenic (recessive)" "" "0000412293" "2" "70" "14" "50713849" "50713849" "subst" "0" "01815" "L2HGDH_000024" "g.50713849G>T" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50247131G>T" "" "likely pathogenic (recessive)" "" "0000412294" "1" "70" "14" "50768731" "50768735" "del" "0" "01815" "L2HGDH_000039" "g.50768731_50768735del" "" "{PMID:Sass 2008:18415700}" "" "408+1_408+5delGTATG" "" "Germline" "" "" "0" "" "" "g.50302013_50302017del" "" "likely pathogenic (recessive)" "" "0000412295" "2" "70" "14" "50768731" "50768735" "del" "0" "01815" "L2HGDH_000039" "g.50768731_50768735del" "" "{PMID:Sass 2008:18415700}" "" "408+1_408+5delGTATG" "" "Germline" "" "" "0" "" "" "g.50302013_50302017del" "" "likely pathogenic (recessive)" "" "0000412296" "1" "90" "14" "50732166" "50732166" "del" "0" "01815" "L2HGDH_000019" "g.50732166del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "1115delT" "" "Germline" "" "" "0" "" "" "g.50265448del" "" "pathogenic (recessive)" "" "0000412297" "2" "90" "14" "50732166" "50732166" "del" "0" "01815" "L2HGDH_000019" "g.50732166del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "1115delT" "" "Germline" "" "" "0" "" "" "g.50265448del" "" "pathogenic (recessive)" "" "0000412298" "1" "70" "14" "50736036" "50736036" "subst" "0.0000121877" "01815" "L2HGDH_000063" "g.50736036G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269318G>A" "" "likely pathogenic (recessive)" "" "0000412299" "2" "70" "14" "50736036" "50736036" "subst" "0.0000121877" "01815" "L2HGDH_000063" "g.50736036G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269318G>A" "" "likely pathogenic (recessive)" "" "0000412300" "1" "70" "14" "50750736" "50750739" "del" "0" "01815" "L2HGDH_000051" "g.50750736_50750739del" "" "{PMID:Sass 2008:18415700}" "" "557_560delATTG" "" "Germline" "" "" "0" "" "" "g.50284018_50284021del" "" "likely pathogenic (recessive)" "" "0000412301" "2" "70" "14" "50750736" "50750739" "del" "0" "01815" "L2HGDH_000051" "g.50750736_50750739del" "" "{PMID:Sass 2008:18415700}" "" "557_560delATTG" "" "Germline" "" "" "0" "" "" "g.50284018_50284021del" "" "likely pathogenic (recessive)" "" "0000412302" "1" "70" "14" "50750708" "50750708" "subst" "0" "01815" "L2HGDH_000052" "g.50750708T>C" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50283990T>C" "" "likely pathogenic (recessive)" "" "0000412303" "2" "70" "14" "50736036" "50736036" "subst" "0.0000121877" "01815" "L2HGDH_000063" "g.50736036G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269318G>A" "" "likely pathogenic (recessive)" "" "0000412304" "1" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412305" "2" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412306" "1" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412307" "2" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412308" "1" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412309" "2" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412310" "1" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412311" "2" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412312" "1" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412313" "2" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412314" "1" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412315" "2" "70" "14" "50735999" "50735999" "subst" "0.0000040618" "01815" "L2HGDH_000067" "g.50735999G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269281G>A" "" "likely pathogenic (recessive)" "" "0000412316" "1" "90" "14" "50769668" "50769668" "subst" "0.000012189" "01815" "L2HGDH_000029" "g.50769668G>A" "" "{PMID:Vilarinho 2005:16134148}" "" "" "L2HG level 1660 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302950G>A" "" "pathogenic (recessive)" "" "0000412317" "2" "90" "14" "50769668" "50769668" "subst" "0.000012189" "01815" "L2HGDH_000029" "g.50769668G>A" "" "{PMID:Vilarinho 2005:16134148}" "" "" "L2HG level 1660 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302950G>A" "" "pathogenic (recessive)" "" "0000412320" "1" "70" "14" "50736008" "50736008" "subst" "0" "01815" "L2HGDH_000065" "g.50736008C>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1928 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269290C>A" "" "likely pathogenic (recessive)" "" "0000412321" "2" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "L2HG level 1928 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412325" "1" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412326" "2" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412330" "1" "90" "14" "50768761" "50768761" "subst" "0" "01815" "L2HGDH_000038" "g.50768761C>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 3162 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302043C>A" "" "pathogenic (recessive)" "" "0000412331" "2" "90" "14" "50734532" "50734532" "subst" "0" "01815" "L2HGDH_000012" "g.50734532G>A" "" "{PMID:Topcu 2004:15385440}" "" "" "L2HG level 3162 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50267814G>A" "" "pathogenic (recessive)" "" "0000412334" "1" "70" "14" "50769707" "50769707" "subst" "0.0000121885" "01815" "L2HGDH_000028" "g.50769707C>T" "" "{PMID:Vilarinho 2005:16134148}" "" "" "L2HG level 2723 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302989C>T" "" "likely pathogenic (recessive)" "" "0000412335" "2" "90" "14" "50769668" "50769668" "subst" "0.000012189" "01815" "L2HGDH_000029" "g.50769668G>A" "" "{PMID:Vilarinho 2005:16134148}" "" "" "L2HG level 2723 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302950G>A" "" "pathogenic (recessive)" "" "0000412336" "3" "90" "14" "50745237" "50745273" "del" "0" "01815" "L2HGDH_000059" "g.50745237_50745273del" "" "{PMID:Steenweg 2010:20052767}" "" "del ex6" "L2HG level 2628 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50278519_50278555del" "" "pathogenic (recessive)" "" "0000412339" "3" "70" "14" "50734529" "50734529" "subst" "0" "01815" "L2HGDH_000013" "g.50734529C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 687 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50267811C>T" "" "likely pathogenic (recessive)" "" "0000412343" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412344" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412351" "3" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies; L2HG level 1703 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412352" "1" "90" "14" "50734532" "50734532" "subst" "0" "01815" "L2HGDH_000012" "g.50734532G>A" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50267814G>A" "" "pathogenic (recessive)" "" "0000412353" "2" "90" "14" "50734532" "50734532" "subst" "0" "01815" "L2HGDH_000012" "g.50734532G>A" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50267814G>A" "" "pathogenic (recessive)" "" "0000412354" "1" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "L2HG level 1033 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412355" "2" "90" "14" "50736050" "50736050" "subst" "0" "01815" "L2HGDH_000062" "g.50736050T>C" "" "{PMID:Topcu 2004:15385440}" "" "" "L2HG level 1033 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269332T>C" "" "pathogenic (recessive)" "" "0000412358" "3" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "L2HG level 1460 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412360" "1" "90" "14" "50736036" "50736036" "subst" "0.0000121877" "01815" "L2HGDH_000063" "g.50736036G>A" "" "{PMID:Sass 2008:18415700}" "" "" "L2HG level 1732 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269318G>A" "" "pathogenic (recessive)" "" "0000412361" "2" "90" "14" "50735527" "50735527" "subst" "0" "01815" "L2HGDH_000075" "g.50735527C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1732 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50268809C>T" "" "pathogenic (recessive)" "" "0000412362" "1" "90" "14" "50769668" "50769668" "subst" "0.000012189" "01815" "L2HGDH_000029" "g.50769668G>A" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302950G>A" "" "pathogenic (recessive)" "" "0000412363" "2" "90" "14" "50734498" "50734509" "del" "0" "01815" "L2HGDH_000016" "g.50734498_50734509del" "" "{PMID:Steenweg 2010:20052767}" "" "1026_1037delCTTCAGTGCCAC" "" "Germline" "" "" "0" "" "" "g.50267780_50267791del" "" "pathogenic (recessive)" "" "0000412364" "1" "70" "14" "50750741" "50750741" "subst" "0" "01815" "L2HGDH_000050" "g.50750741G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50284023G>A" "" "likely pathogenic (recessive)" "" "0000412365" "2" "70" "14" "50750741" "50750741" "subst" "0" "01815" "L2HGDH_000050" "g.50750741G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50284023G>A" "" "likely pathogenic (recessive)" "" "0000412367" "1" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412368" "2" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412371" "1" "70" "14" "50769707" "50769707" "subst" "0.0000121885" "01815" "L2HGDH_000028" "g.50769707C>T" "" "{PMID:Vilarinho 2005:16134148}" "" "" "L2HG level 1192 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302989C>T" "" "likely pathogenic (recessive)" "" "0000412372" "2" "70" "14" "50769707" "50769707" "subst" "0.0000121885" "01815" "L2HGDH_000028" "g.50769707C>T" "" "{PMID:Vilarinho 2005:16134148}" "" "" "L2HG level 1192 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302989C>T" "" "likely pathogenic (recessive)" "" "0000412373" "3" "70" "14" "50735942" "50735942" "subst" "0.0000243702" "01815" "L2HGDH_000071" "g.50735942C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50269224C>T" "" "likely pathogenic (recessive)" "" "0000412375" "1" "70" "14" "50750660" "50750660" "subst" "0" "01815" "L2HGDH_000056" "g.50750660C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 2013 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50283942C>T" "" "likely pathogenic (recessive)" "" "0000412376" "2" "70" "14" "50750660" "50750660" "subst" "0" "01815" "L2HGDH_000056" "g.50750660C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 2013 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50283942C>T" "" "likely pathogenic (recessive)" "" "0000412383" "3" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "L2HG level 671 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412385" "1" "90" "14" "50713776" "50713973" "del" "0" "01815" "L2HGDH_000021" "g.50713776_50713973del" "" "{PMID:Steenweg 2010:20052767}" "" "del ex10" "L2HG level 1401 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50247058_50247255del" "" "pathogenic (recessive)" "" "0000412386" "2" "90" "14" "50713776" "50713973" "del" "0" "01815" "L2HGDH_000021" "g.50713776_50713973del" "" "{PMID:Steenweg 2010:20052767}" "" "del ex10" "L2HG level 1401 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50247058_50247255del" "" "pathogenic (recessive)" "" "0000412390" "1" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "L2HG level 987 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412391" "2" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "L2HG level 987 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412392" "1" "90" "14" "50732075" "50760965" "del" "0" "01815" "L2HGDH_000040" "g.50732075_50760965del" "" "{PMID:Steenweg 2010:20052767}" "" "del exon 4-9" "" "Germline" "" "" "0" "" "" "g.50265357_50294247del" "" "pathogenic (recessive)" "" "0000412393" "2" "90" "14" "50732075" "50760965" "del" "0" "01815" "L2HGDH_000040" "g.50732075_50760965del" "" "{PMID:Steenweg 2010:20052767}" "" "del exon 4-9" "" "Germline" "" "" "0" "" "" "g.50265357_50294247del" "" "pathogenic (recessive)" "" "0000412396" "3" "90" "14" "50768787" "50768789" "del" "0" "01815" "L2HGDH_000037" "g.50768787_50768789del" "" "{PMID:Steenweg 2010:20052767}" "" "358_360delCTC" "L2HG level 3357 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302069_50302071del" "" "pathogenic (recessive)" "" "0000412397" "1" "70" "14" "50735943" "50735943" "subst" "0" "01815" "L2HGDH_000070" "g.50735943G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 951 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269225G>A" "" "likely pathogenic (recessive)" "" "0000412398" "2" "33" "14" "50732172" "50732172" "subst" "0.00160249" "01815" "L2HGDH_000018" "g.50732172T>C" "" "{PMID:Steenweg 2010:20052767}" "" "" "found in combination with a more conserved variant, most likely this variant is not associated with disease; L2HG level 951 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50265454T>C" "" "likely benign" "" "0000412401" "1" "70" "14" "50760838" "50760838" "subst" "0" "01815" "L2HGDH_000047" "g.50760838A>G" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 2177 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294120A>G" "" "likely pathogenic (recessive)" "" "0000412402" "2" "90" "14" "50750588" "50750752" "del" "0" "01815" "L2HGDH_000049" "g.50750588_50750752del" "" "{PMID:Steenweg 2010:20052767}" "" "del ex5" "L2HG level 2177 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50283870_50284034del" "" "pathogenic (recessive)" "" "0000412405" "3" "90" "14" "50745237" "50745237" "subst" "0" "01815" "L2HGDH_000060" "g.50745237C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1580 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50278519C>T" "" "pathogenic (recessive)" "" "0000412408" "1" "90" "14" "50768804" "50768825" "del" "0" "01815" "L2HGDH_000035" "g.50768804_50768825del" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1874 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302086_50302107del" "" "pathogenic (recessive)" "" "0000412409" "2" "90" "14" "50768804" "50768825" "del" "0" "01815" "L2HGDH_000035" "g.50768804_50768825del" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1874 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302086_50302107del" "" "pathogenic (recessive)" "" "0000412412" "3" "70" "14" "50778868" "50778868" "subst" "0" "01815" "L2HGDH_000083" "g.50778868T>C" "" "{PMID:Steenweg 2010:20052767}" "" "p.(Met1?)" "L2HG level 888 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50312150T>C" "" "likely pathogenic (recessive)" "" "0000412413" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412414" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412415" "1" "70" "14" "50769707" "50769707" "subst" "0.0000121885" "01815" "L2HGDH_000028" "g.50769707C>T" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302989C>T" "" "likely pathogenic (recessive)" "" "0000412416" "2" "70" "14" "50760846" "50760846" "subst" "0" "01815" "L2HGDH_000095" "g.50760846T>C" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50294128T>C" "" "likely pathogenic (recessive)" "" "0000412417" "1" "70" "14" "50760828" "50760828" "subst" "0.00000406157" "01815" "L2HGDH_000048" "g.50760828C>G" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 888 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294110C>G" "" "likely pathogenic (recessive)" "" "0000412418" "2" "90" "14" "50735958" "50735958" "subst" "0.00000812341" "01815" "L2HGDH_000069" "g.50735958G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 888 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269240G>A" "" "pathogenic (recessive)" "" "0000412421" "1" "70" "14" "50768796" "50768796" "subst" "0.00000406121" "01815" "L2HGDH_000036" "g.50768796C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 2217 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302078C>T" "" "likely pathogenic (recessive)" "" "0000412422" "2" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "L2HG level 2217 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412424" "1" "90" "14" "50732073" "50732073" "subst" "0" "01815" "L2HGDH_000020" "g.50732073T>G" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50265355T>G" "" "pathogenic (recessive)" "" "0000412425" "2" "90" "14" "50732073" "50732073" "subst" "0" "01815" "L2HGDH_000020" "g.50732073T>G" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50265355T>G" "" "pathogenic (recessive)" "" "0000412426" "3" "90" "14" "50713776" "50713973" "del" "0" "01815" "L2HGDH_000021" "g.50713776_50713973del" "" "{PMID:Steenweg 2010:20052767}" "" "del ex10" "" "Germline" "" "" "0" "" "" "g.50247058_50247255del" "" "pathogenic (recessive)" "" "0000412427" "1" "90" "14" "50713776" "50713973" "del" "0" "01815" "L2HGDH_000021" "g.50713776_50713973del" "" "{PMID:Steenweg 2010:20052767}" "" "del ex10" "" "Germline" "" "" "0" "" "" "g.50247058_50247255del" "" "pathogenic (recessive)" "" "0000412428" "2" "90" "14" "50713776" "50713973" "del" "0" "01815" "L2HGDH_000021" "g.50713776_50713973del" "" "{PMID:Steenweg 2010:20052767}" "" "del ex10" "" "Germline" "" "" "0" "" "" "g.50247058_50247255del" "" "pathogenic (recessive)" "" "0000412431" "3" "90" "14" "50760832" "50769736" "del" "0" "01815" "L2HGDH_000026" "g.50760832_50769736del" "" "{PMID:Steenweg 2010:20052767}" "" "del exon 2-4" "L2HG level 2171 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294114_50303018del" "" "pathogenic (recessive)" "" "0000412433" "3" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "L2HG level 2621 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412434" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412435" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412438" "3" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "L2HG level 1742 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412441" "1" "90" "14" "50734524" "50734524" "dup" "0" "01815" "L2HGDH_000014" "g.50734524dup" "" "{PMID:Steenweg 2010:20052767}" "" "1012dupT" "L2HG level 2632 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50267806dup" "" "pathogenic (recessive)" "" "0000412442" "2" "90" "14" "50734524" "50734524" "dup" "0" "01815" "L2HGDH_000014" "g.50734524dup" "" "{PMID:Steenweg 2010:20052767}" "" "1012dupT" "L2HG level 2632 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50267806dup" "" "pathogenic (recessive)" "" "0000412445" "1" "70" "14" "50745238" "50745238" "subst" "0" "01815" "L2HGDH_000061" "g.50745238C>G" "" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "" "most likely this variant results in alternative splicing, since amino acid 246 is not highly conserved" "Germline" "" "" "0" "" "" "g.50278520C>G" "" "likely pathogenic (recessive)" "" "0000412446" "2" "70" "14" "50745238" "50745238" "subst" "0" "01815" "L2HGDH_000061" "g.50745238C>G" "" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "" "most likely this variant results in alternative splicing, since amino acid 246 is not highly conserved" "Germline" "" "" "0" "" "" "g.50278520C>G" "" "likely pathogenic (recessive)" "" "0000412448" "1" "90" "14" "50735884" "50735884" "subst" "0" "01815" "L2HGDH_000072" "g.50735884A>C" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1375 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269166A>C" "" "pathogenic (recessive)" "" "0000412449" "2" "90" "14" "50735884" "50735884" "subst" "0" "01815" "L2HGDH_000072" "g.50735884A>C" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1375 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269166A>C" "" "pathogenic (recessive)" "" "0000412450" "1" "90" "14" "50735999" "50735999" "subst" "0.00000812361" "01815" "L2HGDH_000066" "g.50735999G>C" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1354 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269281G>C" "" "pathogenic (recessive)" "" "0000412451" "2" "90" "14" "50735999" "50735999" "subst" "0.00000812361" "01815" "L2HGDH_000066" "g.50735999G>C" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1354 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269281G>C" "" "pathogenic (recessive)" "" "0000412452" "3" "90" "14" "50760832" "50769736" "del" "0" "01815" "L2HGDH_000026" "g.50760832_50769736del" "" "{PMID:Steenweg 2010:20052767}" "" "del exon 2-4" "L2HG level 815 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294114_50303018del" "" "pathogenic (recessive)" "" "0000412455" "1" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412456" "2" "70" "14" "50750660" "50750660" "subst" "0.0000121871" "01815" "L2HGDH_000057" "g.50750660C>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50283942C>A" "" "likely pathogenic (recessive)" "" "0000412459" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "L2HG level 2352 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412460" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "L2HG level 2352 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412461" "1" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412462" "2" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412463" "3" "70" "14" "50736008" "50736008" "subst" "0" "01815" "L2HGDH_000064" "g.50736008C>G" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1804 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269290C>G" "" "likely pathogenic (recessive)" "" "0000412466" "1" "90" "14" "50736036" "50736036" "subst" "0.0000121877" "01815" "L2HGDH_000063" "g.50736036G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269318G>A" "" "pathogenic (recessive)" "" "0000412467" "2" "90" "14" "50736036" "50736036" "subst" "0.0000121877" "01815" "L2HGDH_000063" "g.50736036G>A" "" "{PMID:Sass 2008:18415700}" "" "" "" "Germline" "" "" "0" "" "" "g.50269318G>A" "" "pathogenic (recessive)" "" "0000412472" "3" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "L2HG level 2416 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412475" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "L2HG level 2138 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412476" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "L2HG level 2138 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412477" "3" "70" "14" "50750660" "50750660" "subst" "0.0000121871" "01815" "L2HGDH_000057" "g.50750660C>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 2128 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50283942C>A" "" "likely pathogenic (recessive)" "" "0000412481" "1" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412482" "2" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412483" "1" "90" "14" "50750703" "50750703" "subst" "0" "01815" "L2HGDH_000053" "g.50750703G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 394 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50283985G>A" "" "pathogenic (recessive)" "" "0000412484" "2" "90" "14" "50750703" "50750703" "subst" "0" "01815" "L2HGDH_000053" "g.50750703G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 394 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50283985G>A" "" "pathogenic (recessive)" "" "0000412487" "3" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies; L2HG level 1592 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412488" "3" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "L2HG level 350 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412490" "1" "70" "14" "50769707" "50769707" "subst" "0.0000121885" "01815" "L2HGDH_000028" "g.50769707C>T" "" "{PMID:Vilarinho 2005:16134148}" "" "" "L2HG level 1856 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302989C>T" "" "likely pathogenic (recessive)" "" "0000412491" "2" "70" "14" "50750660" "50750660" "subst" "0.0000121871" "01815" "L2HGDH_000057" "g.50750660C>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1856 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50283942C>A" "" "likely pathogenic (recessive)" "" "0000412492" "1" "90" "14" "50769668" "50769668" "subst" "0.000012189" "01815" "L2HGDH_000029" "g.50769668G>A" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302950G>A" "" "pathogenic (recessive)" "" "0000412493" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412494" "1" "90" "14" "50735884" "50735884" "subst" "0" "01815" "L2HGDH_000072" "g.50735884A>C" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1991 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269166A>C" "" "pathogenic (recessive)" "" "0000412495" "2" "90" "14" "50735884" "50735884" "subst" "0" "01815" "L2HGDH_000072" "g.50735884A>C" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 1991 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269166A>C" "" "pathogenic (recessive)" "" "0000412498" "3" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "L2HG level 1494 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412502" "1" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "L2HG level 1084 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412503" "2" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "L2HG level 1084 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412512" "3" "90" "14" "50735880" "50735880" "subst" "0" "01815" "L2HGDH_000074" "g.50735880C>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0003}" "" "" "L2HG level 1430 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269162C>A" "" "pathogenic (recessive)" "" "0000412517" "3" "70" "14" "50768851" "50768851" "subst" "0" "01815" "L2HGDH_000033" "g.50768851G>A" "" "{PMID:Topcu 2004:15385440}" "" "" "L2HG level 1410 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302133G>A" "" "likely pathogenic (recessive)" "" "0000412521" "3" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "L2HG level 1576 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412522" "1" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412523" "2" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412530" "1" "90" "14" "50750682" "50750682" "subst" "0.0000040623" "01815" "L2HGDH_000055" "g.50750682G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50283964G>A" "" "pathogenic (recessive)" "" "0000412531" "2" "90" "14" "50750682" "50750682" "subst" "0.0000040623" "01815" "L2HGDH_000055" "g.50750682G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50283964G>A" "" "pathogenic (recessive)" "" "0000412536" "3" "90" "14" "50713775" "50778869" "del" "0" "01815" "L2HGDH_000010" "g.50713775_50778869del" "" "{PMID:Steenweg 2010:20052767}" "" "del exon 1-10" "L2HG level 1979 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50247057_50312151del" "" "pathogenic (recessive)" "" "0000412537" "1" "70" "14" "50735943" "50735943" "subst" "0" "01815" "L2HGDH_000070" "g.50735943G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 2148 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269225G>A" "" "likely pathogenic (recessive)" "" "0000412538" "2" "70" "14" "50713846" "50713846" "subst" "0" "01815" "L2HGDH_000025" "g.50713846G>C" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 2148 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50247128G>C" "" "likely pathogenic (recessive)" "" "0000412539" "1" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412540" "2" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412543" "1" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412544" "2" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412545" "1" "90" "14" "50734576" "50734576" "del" "0" "01815" "L2HGDH_000078" "g.50734576del" "" "{PMID:Steenweg 2010:20052767}" "" "959delA" "" "Germline" "" "" "0" "" "" "g.50267858del" "" "pathogenic (recessive)" "" "0000412546" "2" "90" "14" "50734576" "50734576" "del" "0" "01815" "L2HGDH_000078" "g.50734576del" "" "{PMID:Steenweg 2010:20052767}" "" "959delA" "" "Germline" "" "" "0" "" "" "g.50267858del" "" "pathogenic (recessive)" "" "0000412547" "1" "70" "14" "50768796" "50768796" "subst" "0.00000406121" "01815" "L2HGDH_000036" "g.50768796C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50302078C>T" "" "likely pathogenic (recessive)" "" "0000412548" "2" "70" "14" "50768796" "50768796" "subst" "0.00000406121" "01815" "L2HGDH_000036" "g.50768796C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50302078C>T" "" "likely pathogenic (recessive)" "" "0000412551" "1" "70" "14" "50768850" "50768850" "subst" "0" "01815" "L2HGDH_000034" "g.50768850T>C" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302132T>C" "" "likely pathogenic (recessive)" "" "0000412552" "2" "70" "14" "50768850" "50768850" "subst" "0" "01815" "L2HGDH_000034" "g.50768850T>C" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302132T>C" "" "likely pathogenic (recessive)" "" "0000412553" "1" "35" "14" "50760955" "50760955" "subst" "0.0000285964" "01815" "L2HGDH_000087" "g.50760955C>G" "" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50294237C>G" "" "likely benign" "" "0000412554" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412556" "1" "70" "14" "50750660" "50750660" "subst" "0.0000121871" "01815" "L2HGDH_000057" "g.50750660C>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50283942C>A" "" "likely pathogenic (recessive)" "" "0000412557" "2" "70" "14" "50750660" "50750660" "subst" "0.0000121871" "01815" "L2HGDH_000057" "g.50750660C>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50283942C>A" "" "likely pathogenic (recessive)" "" "0000412562" "1" "70" "14" "50713951" "50713951" "subst" "0" "01815" "L2HGDH_000022" "g.50713951G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50247233G>A" "" "likely pathogenic (recessive)" "" "0000412563" "2" "70" "14" "50713951" "50713951" "subst" "0" "01815" "L2HGDH_000022" "g.50713951G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50247233G>A" "" "likely pathogenic (recessive)" "" "0000412564" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412565" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412566" "1" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412567" "2" "90" "14" "50732166" "50732166" "del" "0" "01815" "L2HGDH_000019" "g.50732166del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "1115delT" "" "Germline" "" "" "0" "" "" "g.50265448del" "" "pathogenic (recessive)" "" "0000412568" "1" "90" "14" "50735958" "50735958" "subst" "0.00000812341" "01815" "L2HGDH_000069" "g.50735958G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50269240G>A" "" "pathogenic (recessive)" "" "0000412569" "2" "90" "14" "50735958" "50735958" "subst" "0.00000812341" "01815" "L2HGDH_000069" "g.50735958G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50269240G>A" "" "pathogenic (recessive)" "" "0000412572" "1" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412573" "2" "70" "14" "50769712" "50769712" "subst" "0" "01815" "L2HGDH_000027" "g.50769712C>T" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.50302994C>T" "" "likely pathogenic (recessive)" "" "0000412574" "1" "70" "14" "50778868" "50778868" "subst" "0" "01815" "L2HGDH_000082" "g.50778868T>G" "" "{PMID:Steenweg 2010:20052767}" "" "p.(Met1?)" "" "Germline" "" "" "0" "" "" "g.50312150T>G" "" "likely pathogenic (recessive)" "" "0000412575" "2" "70" "14" "50778868" "50778868" "subst" "0" "01815" "L2HGDH_000082" "g.50778868T>G" "" "{PMID:Steenweg 2010:20052767}" "" "p.(Met1?)" "" "Germline" "" "" "0" "" "" "g.50312150T>G" "" "likely pathogenic (recessive)" "" "0000412578" "1" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412579" "2" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412581" "1" "10" "14" "50778816" "50778816" "subst" "0.566033" "01815" "L2HGDH_000079" "g.50778816A>C" "0.49-0.70" "rs2275591" "" "" "" "Germline" "" "" "0" "" "" "g.50312098A>C" "" "benign" "" "0000412582" "2" "15" "14" "50778770" "50778770" "subst" "0.00248538" "01815" "L2HGDH_000080" "g.50778770C>A" "0.04" "rs35710558" "" "" "" "Germline" "" "" "0" "" "" "g.50312052C>A" "" "benign" "" "0000412583" "1" "70" "14" "50735900" "50735900" "subst" "0" "01815" "L2HGDH_000096" "g.50735900A>T" "" "{PMID 18671189:Haliloglu 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.50269182A>T" "" "likely pathogenic (recessive)" "" "0000412584" "2" "70" "14" "50735900" "50735900" "subst" "0" "01815" "L2HGDH_000096" "g.50735900A>T" "" "{PMID 18671189:Haliloglu 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.50269182A>T" "" "likely pathogenic (recessive)" "" "0000412585" "1" "10" "14" "50760840" "50760840" "subst" "0.0000324944" "01815" "L2HGDH_000086" "g.50760840T>A" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50294122T>A" "" "benign" "" "0000412586" "2" "10" "14" "50750665" "50750665" "subst" "0.0000446838" "01815" "L2HGDH_000089" "g.50750665T>C" "" "{PMID:Rzem 2004:15548604}" "" "" "" "Germline" "" "" "0" "" "" "g.50283947T>C" "" "benign" "" "0000412587" "1" "10" "14" "50735947" "50735947" "subst" "0.010182" "01815" "L2HGDH_000090" "g.50735947T>C" "" "{PMID:Steenweg 2010:20052767}" "" "" "5/210 alleles" "Germline" "" "" "0" "" "" "g.50269229T>C" "" "benign" "" "0000412588" "2" "10" "14" "50735935" "50735935" "subst" "0.000056863" "01815" "L2HGDH_000091" "g.50735935A>G" "" "{PMID:Steenweg 2010:20052767}" "" "" "0/210 alleles" "Germline" "" "" "0" "" "" "g.50269217A>G" "" "benign" "" "0000412589" "1" "10" "14" "50732063" "50732063" "subst" "0" "01815" "L2HGDH_000093" "g.50732063C>G" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50265345C>G" "" "benign" "" "0000412590" "2" "10" "14" "50732042" "50732042" "subst" "0" "01815" "L2HGDH_000094" "g.50732042G>C" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50265324G>C" "" "benign" "" "0000412591" "1" "10" "14" "50735853" "50735853" "dup" "0" "01815" "L2HGDH_000092" "g.50735853dup" "" "{PMID:Vilarinho 2005:16134148}" "" "906+34dupT" "" "Germline" "" "" "0" "" "" "g.50269135dup" "" "benign" "" "0000412592" "2" "10" "14" "50713750" "50713750" "subst" "0" "01815" "L2HGDH_000088" "g.?" "" "{PMID:Steenweg 2010:20052767}" "" "" "1/210 alleles" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000412593" "1" "70" "14" "50769691" "50769691" "subst" "0" "01815" "L2HGDH_000081" "g.50769691G>T" "" "{PMID:Larnaout 2008:18780161}" "" "" "" "Germline" "" "" "0" "" "" "g.50302973G>T" "" "likely pathogenic (recessive)" "" "0000412594" "2" "70" "14" "50769691" "50769691" "subst" "0" "01815" "L2HGDH_000081" "g.50769691G>T" "" "{PMID:Larnaout 2008:18780161}" "" "" "" "Germline" "" "" "0" "" "" "g.50302973G>T" "" "likely pathogenic (recessive)" "" "0000412598" "3" "70" "14" "50734471" "50736049" "del" "0" "02595" "L2HGDH_000084" "g.50734471_50736049del" "" "" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000412599" "1" "55" "14" "50734600" "50734602" "del" "0" "02595" "L2HGDH_000085" "g.50734600_50734602del" "" "" "" "934_936delGGA" "" "Germline" "" "" "0" "" "" "g.50267882_50267884del" "" "VUS" "" "0000412600" "2" "55" "14" "50734600" "50734602" "del" "0" "02595" "L2HGDH_000085" "g.50734600_50734602del" "" "" "" "934_936delGGA" "" "Germline" "" "" "0" "" "" "g.50267882_50267884del" "" "VUS" "" "0000412601" "1" "70" "14" "50769619" "50769619" "subst" "0.0000121853" "02595" "L2HGDH_000058" "g.50769619C>T" "" "" "" "" "exon 02 skipping" "Germline" "" "" "0" "" "" "g.50302901C>T" "" "likely pathogenic (recessive)" "" "0000412602" "2" "90" "14" "50760840" "50760843" "delins" "0" "02595" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412603" "1" "55" "14" "50735934" "50735940" "delins" "0" "02595" "L2HGDH_000041" "g.50735934_50735940delinsGGTA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50269216_50269222delinsGGTA" "" "VUS" "" "0000412604" "2" "90" "14" "50734524" "50734524" "dup" "0" "02595" "L2HGDH_000014" "g.50734524dup" "" "{PMID:Steenweg 2010:20052767}" "" "1012dupT" "" "Germline" "" "" "0" "" "" "g.50267806dup" "" "pathogenic (recessive)" "" "0000412605" "1" "70" "14" "50769691" "50769691" "subst" "0" "01815" "L2HGDH_000081" "g.50769691G>T" "" "{PMID:Larnaout 2008:18780161}" "" "" "" "Germline" "" "" "0" "" "" "g.50302973G>T" "" "likely pathogenic (recessive)" "" "0000412606" "2" "70" "14" "50769691" "50769691" "subst" "0" "01815" "L2HGDH_000081" "g.50769691G>T" "" "{PMID:Larnaout 2008:18780161}" "" "" "" "Germline" "" "" "0" "" "" "g.50302973G>T" "" "likely pathogenic (recessive)" "" "0000412607" "1" "70" "14" "50769691" "50769691" "subst" "0" "01815" "L2HGDH_000081" "g.50769691G>T" "" "{PMID:Larnaout 2008:18780161}" "" "" "" "Germline" "" "" "0" "" "" "g.50302973G>T" "" "likely pathogenic (recessive)" "" "0000412608" "2" "70" "14" "50769691" "50769691" "subst" "0" "01815" "L2HGDH_000081" "g.50769691G>T" "" "{PMID:Larnaout 2008:18780161}" "" "" "" "Germline" "" "" "0" "" "" "g.50302973G>T" "" "likely pathogenic (recessive)" "" "0000412609" "1" "70" "14" "50769691" "50769691" "subst" "0" "01815" "L2HGDH_000081" "g.50769691G>T" "" "{PMID:Larnaout 2008:18780161}" "" "" "" "Germline" "" "" "0" "" "" "g.50302973G>T" "" "likely pathogenic (recessive)" "" "0000412610" "2" "70" "14" "50769691" "50769691" "subst" "0" "01815" "L2HGDH_000081" "g.50769691G>T" "" "{PMID:Larnaout 2008:18780161}" "" "" "" "Germline" "" "" "0" "" "" "g.50302973G>T" "" "likely pathogenic (recessive)" "" "0000412611" "1" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412612" "2" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412613" "1" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412614" "2" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412615" "1" "70" "14" "50769691" "50769691" "subst" "0" "01815" "L2HGDH_000081" "g.50769691G>T" "" "{PMID:Larnaout 2008:18780161}" "" "" "" "Germline" "" "" "0" "" "" "g.50302973G>T" "" "likely pathogenic (recessive)" "" "0000412616" "2" "70" "14" "50769691" "50769691" "subst" "0" "01815" "L2HGDH_000081" "g.50769691G>T" "" "{PMID:Larnaout 2008:18780161}" "" "" "" "Germline" "" "" "0" "" "" "g.50302973G>T" "" "likely pathogenic (recessive)" "" "0000412617" "1" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412618" "2" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412619" "2" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412620" "2" "70" "14" "50735882" "50735882" "subst" "0.000012189" "01815" "L2HGDH_000073" "g.50735882G>A" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.50269164G>A" "" "likely pathogenic (recessive)" "" "0000412621" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "L2HG level 2500 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412622" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "L2HG level 2500 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412623" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412624" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412625" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412626" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412627" "1" "70" "14" "50769707" "50769707" "subst" "0.0000121885" "01815" "L2HGDH_000028" "g.50769707C>T" "" "{PMID:Vilarinho 2005:16134148}" "" "" "L2HG level 5243 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50302989C>T" "" "likely pathogenic (recessive)" "" "0000412628" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "L2HG level 5243 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412629" "2" "70" "14" "50769707" "50769707" "subst" "0.0000121885" "01815" "L2HGDH_000028" "g.50769707C>T" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302989C>T" "" "likely pathogenic (recessive)" "" "0000412630" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412631" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412634" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412635" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412636" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412637" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412638" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412639" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412640" "1" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412641" "2" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412642" "1" "35" "14" "50760955" "50760955" "subst" "0.0000285964" "01815" "L2HGDH_000087" "g.50760955C>G" "" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "" "L2HGDH_activity 8" "Germline" "" "" "0" "" "" "g.50294237C>G" "" "likely benign" "" "0000412644" "1" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412645" "2" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412646" "2" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412647" "2" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412648" "2" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412649" "1" "70" "14" "50736008" "50736008" "subst" "0" "01815" "L2HGDH_000064" "g.50736008C>G" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 911 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269290C>G" "" "likely pathogenic (recessive)" "" "0000412650" "2" "70" "14" "50736008" "50736008" "subst" "0" "01815" "L2HGDH_000064" "g.50736008C>G" "" "{PMID:Steenweg 2010:20052767}" "" "" "L2HG level 911 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50269290C>G" "" "likely pathogenic (recessive)" "" "0000412651" "1" "90" "14" "50760914" "50760914" "subst" "0" "01815" "L2HGDH_000042" "g.50760914A>T" "" "{PMID:Topcu 2004:15385440}" "" "" "L2HG level 894 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294196A>T" "" "pathogenic (recessive)" "" "0000412652" "2" "90" "14" "50760914" "50760914" "subst" "0" "01815" "L2HGDH_000042" "g.50760914A>T" "" "{PMID:Topcu 2004:15385440}" "" "" "L2HG level 894 umol/mmol creat" "Germline" "" "" "0" "" "" "g.50294196A>T" "" "pathogenic (recessive)" "" "0000412653" "1" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412654" "2" "70" "14" "50760845" "50760845" "subst" "0" "01815" "L2HGDH_000045" "g.50760845C>A" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50294127C>A" "" "likely pathogenic (recessive)" "" "0000412655" "1" "70" "14" "50768796" "50768796" "subst" "0.00000406121" "01815" "L2HGDH_000036" "g.50768796C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50302078C>T" "" "likely pathogenic (recessive)" "" "0000412656" "2" "70" "14" "50768796" "50768796" "subst" "0.00000406121" "01815" "L2HGDH_000036" "g.50768796C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50302078C>T" "" "likely pathogenic (recessive)" "" "0000412657" "2" "70" "14" "50768796" "50768796" "subst" "0.00000406121" "01815" "L2HGDH_000036" "g.50768796C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50302078C>T" "" "likely pathogenic (recessive)" "" "0000412658" "2" "70" "14" "50768796" "50768796" "subst" "0.00000406121" "01815" "L2HGDH_000036" "g.50768796C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50302078C>T" "" "likely pathogenic (recessive)" "" "0000412659" "1" "70" "14" "50778868" "50778868" "subst" "0" "01815" "L2HGDH_000083" "g.50778868T>C" "" "{PMID:Steenweg 2010:20052767}" "" "p.(Met1?)" "" "Germline" "" "" "0" "" "" "g.50312150T>C" "" "likely pathogenic (recessive)" "" "0000412660" "2" "90" "14" "50732075" "50732075" "subst" "0" "01815" "L2HGDH_000098" "g.50732075C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50265357C>T" "" "pathogenic (recessive)" "" "0000412661" "1" "70" "14" "50778868" "50778868" "subst" "0" "01815" "L2HGDH_000083" "g.50778868T>C" "" "{PMID:Steenweg 2010:20052767}" "" "p.(Met1?)" "" "Germline" "" "" "0" "" "" "g.50312150T>C" "" "likely pathogenic (recessive)" "" "0000412662" "1" "70" "14" "50778868" "50778868" "subst" "0" "01815" "L2HGDH_000083" "g.50778868T>C" "" "{PMID:Steenweg 2010:20052767}" "" "p.(Met1?)" "" "Germline" "" "" "0" "" "" "g.50312150T>C" "" "likely pathogenic (recessive)" "" "0000412667" "1" "70" "14" "50768850" "50768850" "subst" "0" "01815" "L2HGDH_000034" "g.50768850T>C" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302132T>C" "" "likely pathogenic (recessive)" "" "0000412668" "2" "70" "14" "50735943" "50735943" "subst" "0" "01815" "L2HGDH_000070" "g.50735943G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50269225G>A" "" "likely pathogenic (recessive)" "" "0000412669" "1" "90" "14" "50768804" "50768804" "subst" "0" "01815" "L2HGDH_000099" "g.50768804A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50302086A>T" "" "pathogenic (recessive)" "" "0000412670" "2" "90" "14" "50768804" "50768804" "subst" "0" "01815" "L2HGDH_000099" "g.50768804A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50302086A>T" "" "pathogenic (recessive)" "" "0000412673" "1" "35" "14" "50760955" "50760955" "subst" "0.0000285964" "01815" "L2HGDH_000087" "g.50760955C>G" "" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50294237C>G" "" "likely benign" "" "0000412674" "2" "90" "14" "50734532" "50734532" "subst" "0" "01815" "L2HGDH_000012" "g.50734532G>A" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50267814G>A" "" "pathogenic (recessive)" "" "0000412675" "1" "70" "14" "50735943" "50735943" "subst" "0" "01815" "L2HGDH_000070" "g.50735943G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50269225G>A" "" "likely pathogenic (recessive)" "" "0000412676" "2" "70" "14" "50735943" "50735943" "subst" "0" "01815" "L2HGDH_000070" "g.50735943G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50269225G>A" "" "likely pathogenic (recessive)" "" "0000412677" "2" "70" "14" "50735943" "50735943" "subst" "0" "01815" "L2HGDH_000070" "g.50735943G>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "no variant 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(recessive)" "" "0000412687" "1" "70" "14" "50768850" "50768850" "subst" "0" "01815" "L2HGDH_000034" "g.50768850T>C" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302132T>C" "" "likely pathogenic (recessive)" "" "0000412688" "2" "70" "14" "50768850" "50768850" "subst" "0" "01815" "L2HGDH_000034" "g.50768850T>C" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302132T>C" "" "likely pathogenic (recessive)" "" "0000412689" "2" "70" "14" "50768850" "50768850" "subst" "0" "01815" "L2HGDH_000034" "g.50768850T>C" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302132T>C" "" "likely pathogenic (recessive)" "" "0000412690" "2" "70" "14" "50768850" "50768850" "subst" "0" "01815" "L2HGDH_000034" "g.50768850T>C" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302132T>C" "" "likely pathogenic (recessive)" "" "0000412691" "2" "70" "14" "50768850" "50768850" "subst" "0" "01815" 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(recessive)" "" "0000412700" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412701" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412702" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412703" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" 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"1" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412727" "1" "70" "14" "50713852" "50713852" "del" "0" "01815" "L2HGDH_000107" "g.50713852delA" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000412728" "2" "70" "14" "50713852" "50713852" "del" "0" "01815" "L2HGDH_000107" "g.50713852delA" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." 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"0000412733" "2" "90" "14" "50732166" "50732166" "del" "0" "01815" "L2HGDH_000019" "g.50732166del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "1115delT" "" "Germline" "" "" "0" "" "" "g.50265448del" "" "pathogenic (recessive)" "" "0000412734" "1" "90" "14" "50732166" "50732166" "del" "0" "01815" "L2HGDH_000019" "g.50732166del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "1115delT" "" "Germline" "" "" "0" "" "" "g.50265448del" "" "pathogenic (recessive)" "" "0000412735" "1" "90" "14" "50732166" "50732166" "del" "0" "01815" "L2HGDH_000019" "g.50732166del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "1115delT" "" "Germline" "" "" "0" "" "" "g.50265448del" "" "pathogenic (recessive)" "" "0000412740" "1" "90" "14" "50732166" "50732166" "del" "0" "01815" "L2HGDH_000019" "g.50732166del" "" "{PMID:Topcu 2004:15385440}, {OMIM609584:0002}" "" "1115delT" "" "Germline" "" "" "0" "" "" "g.50265448del" "" "pathogenic (recessive)" "" "0000412741" "2" "90" "14" 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2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50267814G>A" "" "pathogenic (recessive)" "" "0000412750" "1" "90" "14" "50734532" "50734532" "subst" "0" "01815" "L2HGDH_000012" "g.50734532G>A" "" "{PMID:Topcu 2004:15385440}" "" "" "" "Germline" "" "" "0" "" "" "g.50267814G>A" "" "pathogenic (recessive)" "" "0000412751" "1" "70" "14" "50734529" "50734529" "subst" "0" "01815" "L2HGDH_000013" "g.50734529C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50267811C>T" "" "likely pathogenic (recessive)" "" "0000412752" "2" "70" "14" "50734529" "50734529" "subst" "0" "01815" "L2HGDH_000013" "g.50734529C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50267811C>T" "" "likely pathogenic (recessive)" "" "0000412753" "1" "70" "14" "50734529" "50734529" "subst" "0" "01815" "L2HGDH_000013" "g.50734529C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50267811C>T" "" "likely pathogenic (recessive)" "" "0000412754" "1" "70" "14" "50734529" "50734529" "subst" "0" "01815" "L2HGDH_000013" "g.50734529C>T" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50267811C>T" "" "likely pathogenic (recessive)" "" "0000412755" "1" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412756" "2" "90" "14" "50760840" "50760843" "delins" "0" "01815" "L2HGDH_000046" "g.50760840_50760843delinsAAT" "" "{PMID:Vilarinho 2005:16134148}" "" "529delC" "" "Germline" "" "" "0" "" "" "g.50294122_50294125delinsAAT" "" "pathogenic (recessive)" "" "0000412757" "1" "70" "14" "50769707" "50769707" "subst" "0.0000121885" "01815" "L2HGDH_000028" "g.50769707C>T" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302989C>T" "" "likely pathogenic (recessive)" "" "0000412758" "2" "70" "14" "50750660" "50750660" "subst" "0.0000121871" "01815" "L2HGDH_000057" "g.50750660C>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50283942C>A" "" "likely pathogenic (recessive)" "" "0000412759" "2" "70" "14" "50769707" "50769707" "subst" "0.0000121885" "01815" "L2HGDH_000028" "g.50769707C>T" "" "{PMID:Vilarinho 2005:16134148}" "" "" "" "Germline" "" "" "0" "" "" "g.50302989C>T" "" "likely pathogenic (recessive)" "" "0000412760" "2" "70" "14" "50750660" "50750660" "subst" "0.0000121871" "01815" "L2HGDH_000057" "g.50750660C>A" "" "{PMID:Steenweg 2010:20052767}" "" "" "" "Germline" "" "" "0" "" "" "g.50283942C>A" "" "likely pathogenic (recessive)" "" "0000412763" "1" "35" "14" "50760955" "50760955" "subst" "0.0000285964" "01815" "L2HGDH_000087" "g.50760955C>G" "" "{PMID19005678; Jequier Gygax 2009}, {PMID:Steenweg 2010:20052767}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.50294237C>G" "" "likely benign" "" "0000412764" "1" "59" "14" "50734564" "50734564" "subst" "0" "02952" "L2HGDH_000111" "g.50734564C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50267846C>T" "" "VUS" "" "0000412765" "2" "59" "14" "50734564" "50734564" "subst" "0" "02952" "L2HGDH_000111" "g.50734564C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50267846C>T" "" "VUS" "" "0000412770" "3" "90" "14" "50760832" "50769736" "del" "0" "01815" "L2HGDH_000026" "g.50760832_50769736del" "" "{PMID:Steenweg 2010:20052767}" "" "del exon 2-4" "" "Germline" "" "" "0" "" "" "g.50294114_50303018del" "" "pathogenic (recessive)" "" "0000412771" "1" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412772" "2" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412773" "1" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412774" "2" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412775" "2" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies; no variant 2nd allele" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000412776" "2" "70" "14" "50769635" "50769635" "subst" "0" "01815" "L2HGDH_000030" "g.50769635T>C" "" "{PMID:Rzem 2004:15548604}, {PMID:Rzem 2006:16005139}" "" "" "pathogenicity proven by overexpression studies;no variant 2nd allele" "Germline" "" "" "0" "" "" "g.50302917T>C" "" "likely pathogenic (recessive)" "" "0000470545" "3" "70" "14" "50750708" "50750708" "subst" "0" "01807" "L2HGDH_000052" "g.50750708T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50283990T>C" "" "likely pathogenic" "" "0000552604" "0" "90" "14" "50736050" "50736050" "subst" "0" "01804" "L2HGDH_000062" "g.50736050T>C" "" "" "" "L2HGDH(NM_024884.2):c.739-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50269332T>C" "" "pathogenic" "" "0000552605" "0" "50" "14" "50760929" "50760929" "subst" "0" "01943" "L2HGDH_000125" "g.50760929T>G" "" "" "" "L2HGDH(NM_024884.2):c.444A>C (p.R148S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50294211T>G" "" "VUS" "" "0000552606" "0" "30" "14" "50760964" "50760968" "del" "0" "01804" "L2HGDH_000126" "g.50760964_50760968del" "" "" "" "L2HGDH(NM_024884.2):c.409-4_409del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50294246_50294250del" "" "likely benign" "" "0000597245" "0" "70" "14" "50769712" "50769712" "subst" "0" "01164" "L2HGDH_000027" "g.50769712C>T" "" "" "" "" "ACMG grading: PM3,PM2,PP4,PP1" "Germline" "" "rs118204021" "0" "" "" "g.50302994C>T" "" "likely pathogenic" "ACMG" "0000614969" "0" "30" "14" "50760863" "50760863" "subst" "0.000316844" "01943" "L2HGDH_000128" "g.50760863C>T" "" "" "" "L2HGDH(NM_024884.2):c.510G>A (p.E170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50294145C>T" "" "likely benign" "" "0000648907" "1" "10" "14" "50732172" "50732172" "subst" "0.00160249" "03575" "L2HGDH_000018" "g.50732172T>C" "27/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "27 heterozygous, no homozygous; {DB:CLININrs115954396}" "Germline" "" "rs115954396" "0" "" "" "g.50265454T>C" "" "benign" "" "0000674724" "3" "70" "14" "50778728" "50778728" "subst" "0" "01164" "L2HGDH_000129" "g.50778728C>T" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000679984" "0" "30" "14" "50736053" "50736053" "subst" "0.0000162563" "02325" "L2HGDH_000130" "g.50736053T>C" "" "" "" "L2HGDH(NM_024884.3):c.739-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724780" "0" "30" "14" "50768801" "50768801" "subst" "0" "01943" "L2HGDH_000131" "g.50768801T>A" "" "" "" "L2HGDH(NM_024884.2):c.342A>T (p.V114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724781" "0" "50" "14" "50769728" "50769728" "subst" "0" "01943" "L2HGDH_000132" "g.50769728C>T" "" "" "" "L2HGDH(NM_024884.2):c.148G>A (p.D50N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786907" "3" "90" "14" "50735958" "50735958" "subst" "0.00000812341" "00006" "L2HGDH_000069" "g.50735958G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.50269240G>A" "" "pathogenic" "" "0000806408" "0" "30" "14" "50769630" "50769630" "subst" "0.000138097" "01943" "L2HGDH_000133" "g.50769630C>T" "" "" "" "L2HGDH(NM_024884.2):c.246G>A (p.E82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806409" "0" "90" "14" "50769668" "50769668" "subst" "0.000012189" "02325" "L2HGDH_000029" "g.50769668G>A" "" "" "" "L2HGDH(NM_024884.2):c.208C>T (p.R70*), L2HGDH(NM_024884.3):c.208C>T (p.R70*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 L2HGDH ## Count = 435 "{{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}}" "0000130161" "00010922" "90" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Arg339Aspfs*13)" "8" "0000130244" "00010922" "70" "1319" "0" "1319" "0" "c.1319C>A" "r.(?)" "p.(Ser440Tyr)" "10" "0000248823" "00010922" "10" "53" "0" "53" "0" "c.53T>G" "r.(?)" "p.(Leu18Arg)" "" "0000248934" "00010922" "10" "593" "0" "593" "0" "c.593T>G" "r.(?)" "p.(Val198Gly)" "" "0000249189" "00010922" "10" "703" "12" "703" "12" "c.703+12T>C" "r.(=)" "p.(=)" "" "0000281954" "00010922" "50" "1268" "0" "1268" "0" "c.1268C>G" "r.(?)" "p.(Ala423Gly)" "" "0000281955" "00010922" "10" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Ile53=)" "" "0000281956" "00010922" "10" "10837" "0" "10837" "0" "c.*9445G>A" "r.(=)" "p.(=)" "" "0000290611" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Ter)" "" "0000323676" "00010922" "50" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Lys)" "" "0000323677" "00010922" "50" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Glu336Lys)" "" "0000323678" "00010922" "50" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Asn216Ser)" "" "0000412207" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412208" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412210" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412211" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412212" "00010922" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(His98Tyr)" "3" "0000412213" "00010922" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(His98Tyr)" "3" "0000412214" "00010922" "90" "739" "-2" "739" "-2" "c.739-2A>G" "r.spl" "p.?" "6i" "0000412215" "00010922" "90" "739" "-2" "739" "-2" "c.739-2A>G" "r.spl" "p.?" "6i" "0000412216" "00010922" "90" "906" "1" "906" "1" "c.906+1G>T" "r.spl" "p.?" "7i" "0000412217" "00010922" "90" "906" "1" "906" "1" "c.906+1G>T" "r.spl" "p.?" "7i" "0000412218" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412220" "00010922" "90" "459" "0" "459" "0" "c.459T>A" "r.(?)" "p.(Tyr153*)" "4" "0000412221" "00010922" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000412222" "00010922" "90" "-1" "0" "1196" "1" "c.-1_1196+1del" "r.0?" "p.?" "_1_9i" "0000412223" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412224" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412225" "00010922" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(His98Tyr)" "3" "0000412227" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412228" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412229" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412230" "00010922" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(His98Tyr)" "3" "0000412231" "00010922" "70" "1065" "-153" "1196" "1249" "c.1065-153_1196+1249del" "r.?" "p.?" "8i_91" "0000412232" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412233" "00010922" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Glu176Asp)" "4" "0000412234" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412235" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412236" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412237" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412238" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412239" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412240" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412241" "00010922" "90" "257" "-2" "257" "-2" "c.257-2A>G" "r.spl" "p.?" "2i" "0000412242" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412244" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412245" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412246" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412247" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412248" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412249" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412250" "00010922" "70" "1301" "0" "1301" "0" "c.1301A>C" "r.(?)" "p.(His434Pro)" "10" "0000412251" "00010922" "70" "1301" "0" "1301" "0" "c.1301A>C" "r.(?)" "p.(His434Pro)" "10" "0000412252" "00010922" "70" "1301" "0" "1301" "0" "c.1301A>C" "r.(?)" "p.(His434Pro)" "10" "0000412253" "00010922" "70" "1301" "0" "1301" "0" "c.1301A>C" "r.(?)" "p.(His434Pro)" "10" "0000412254" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412255" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412256" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412257" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412259" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412260" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412261" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412262" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412263" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412264" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412265" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412266" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412267" "00010922" "90" "907" "-2" "907" "-2" "c.907-2A>G" "r.spl" "p.?" "7i" "0000412268" "00010922" "90" "907" "-2" "907" "-2" "c.907-2A>G" "r.spl" "p.?" "7i" "0000412269" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412270" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412271" "00010922" "70" "601" "0" "601" "0" "c.601del" "r.(?)" "p.(Ser201Hisfs*14)" "5" "0000412272" "00010922" "70" "802" "0" "802" "0" "c.802G>T" "r.(?)" "p.(Glu268*)" "7" "0000412273" "00010922" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412274" "00010922" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412275" "00010922" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412276" "00010922" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412277" "00010922" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412278" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412279" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412280" "00010922" "70" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Arg339Aspfs*13)" "8" "0000412281" "00010922" "70" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Arg339Aspfs*13)" "8" "0000412282" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412283" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412284" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412285" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412286" "00010922" "70" "467" "0" "467" "0" "c.467G>T" "r.(?)" "p.(Gly156Val)" "4" "0000412287" "00010922" "70" "1319" "0" "1319" "0" "c.1319C>A" "r.(?)" "p.(Ser440Tyr)" "10" "0000412288" "00010922" "70" "467" "0" "467" "0" "c.467G>T" "r.(?)" "p.(Gly156Val)" "4" "0000412289" "00010922" "70" "1319" "0" "1319" "0" "c.1319C>A" "r.(?)" "p.(Ser440Tyr)" "10" "0000412290" "00010922" "70" "467" "0" "467" "0" "c.467G>T" "r.(?)" "p.(Gly156Val)" "4" "0000412291" "00010922" "70" "1319" "0" "1319" "0" "c.1319C>A" "r.(?)" "p.(Ser440Tyr)" "10" "0000412292" "00010922" "70" "467" "0" "467" "0" "c.467G>T" "r.(?)" "p.(Gly156Val)" "4" "0000412293" "00010922" "70" "1319" "0" "1319" "0" "c.1319C>A" "r.(?)" "p.(Ser440Tyr)" "10" "0000412294" "00010922" "70" "408" "2" "408" "6" "c.408+2_408+6del" "r.spl" "p.?" "3i" "0000412295" "00010922" "70" "408" "2" "408" "6" "c.408+2_408+6del" "r.spl" "p.?" "3i" "0000412296" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412297" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412298" "00010922" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412299" "00010922" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412300" "00010922" "70" "557" "0" "560" "0" "c.557_560del" "r.(?)" "p.(Asp186Valfs*28)" "5" "0000412301" "00010922" "70" "557" "0" "560" "0" "c.557_560del" "r.(?)" "p.(Asp186Valfs*28)" "5" "0000412302" "00010922" "70" "584" "0" "584" "0" "c.584A>G" "r.(?)" "p.(Tyr195Cys)" "5" "0000412303" "00010922" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412304" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412305" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412306" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412307" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412308" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412309" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412310" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412311" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412312" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412313" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412314" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412315" "00010922" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ser263Leu)" "7" "0000412316" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412317" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412320" "00010922" "70" "779" "0" "779" "0" "c.779G>T" "r.(?)" "p.(Gly260Val)" "7" "0000412321" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412325" "00010922" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Glu176Asp)" "4" "0000412326" "00010922" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Glu176Asp)" "4" "0000412330" "00010922" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Gly128*)" "3" "0000412331" "00010922" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000412334" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412335" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412336" "00010922" "90" "704" "-1" "738" "1" "c.704-1_738+1del" "r.spl?" "p.?" "5i_6i" "0000412339" "00010922" "70" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Glu336Lys)" "8" "0000412343" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412344" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412351" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412352" "00010922" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000412353" "00010922" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000412354" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412355" "00010922" "90" "739" "-2" "739" "-2" "c.739-2A>G" "r.spl" "p.?" "6i" "0000412358" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412360" "00010922" "90" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412361" "00010922" "90" "906" "354" "906" "354" "c.906+354G>A" "r.[906+354g>a; r.906_907ins906+205_906+350]" "p.(=)" "7i" "0000412362" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412363" "00010922" "90" "1026" "0" "1037" "0" "c.1026_1037del" "r.(?)" "p.(Asp342_Thr346delins342Glu)" "8" "0000412364" "00010922" "70" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Ala184Val)" "5" "0000412365" "00010922" "70" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Ala184Val)" "5" "0000412367" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412368" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412371" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412372" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412373" "00010922" "70" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282Gln)" "7" "0000412375" "00010922" "70" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Gly211Asp)" "5" "0000412376" "00010922" "70" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Gly211Asp)" "5" "0000412383" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412385" "00010922" "90" "1197" "-1" "1393" "0" "c.1197-1_*1del" "r.spl?" "p.?" "9i_10_" "0000412386" "00010922" "90" "1197" "-1" "1393" "0" "c.1197-1_*1del" "r.spl?" "p.?" "9i_10_" "0000412390" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412391" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412392" "00010922" "90" "409" "-1" "1196" "1" "c.409-1_1196+1del" "r.spl?" "p.?" "3i_9i" "0000412393" "00010922" "90" "409" "-1" "1196" "1" "c.409-1_1196+1del" "r.spl?" "p.?" "3i_9i" "0000412396" "00010922" "90" "358" "0" "360" "0" "c.358_360del" "r.(?)" "p.(Leu120del)" "3" "0000412397" "00010922" "70" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Trp)" "7" "0000412398" "00010922" "33" "1100" "0" "1100" "0" "c.1100A>G" "r.(?)" "p.(Tyr367Cys)" "9" "0000412401" "00010922" "70" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Cys179Arg)" "4" "0000412402" "00010922" "90" "541" "-1" "703" "1" "c.541-1_703+1del" "r.spl?" "p.?" "4i_5i" "0000412405" "00010922" "90" "738" "1" "738" "1" "c.738+1G>A" "r.spl" "p.?" "6i" "0000412408" "00010922" "90" "320" "0" "341" "0" "c.320_341del" "r.(?)" "p.(Ser107Tyrfs*25)" "3" "0000412409" "00010922" "90" "320" "0" "341" "0" "c.320_341del" "r.(?)" "p.(Ser107Tyrfs*25)" "3" "0000412412" "00010922" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000412413" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412414" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412415" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412416" "00010922" "70" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Glu176Gly)" "4" "0000412417" "00010922" "70" "540" "5" "540" "5" "c.540+5G>C" "r.spl?" "p.?" "4i" "0000412418" "00010922" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277*)" "7" "0000412421" "00010922" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "3" "0000412422" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412424" "00010922" "90" "1196" "3" "1196" "3" "c.1196+3A>C" "r.1196_1197ins1196+1_1196+56" "p.?" "9i" "0000412425" "00010922" "90" "1196" "3" "1196" "3" "c.1196+3A>C" "r.1196_1197ins1196+1_1196+56" "p.?" "9i" "0000412426" "00010922" "90" "1197" "-1" "1393" "0" "c.1197-1_*1del" "r.spl?" "p.?" "9i_10_" "0000412427" "00010922" "90" "1197" "-1" "1393" "0" "c.1197-1_*1del" "r.spl?" "p.?" "9i_10_" "0000412428" "00010922" "90" "1197" "-1" "1393" "0" "c.1197-1_*1del" "r.spl?" "p.?" "9i_10_" "0000412431" "00010922" "90" "141" "-1" "540" "1" "c.141-1_540+1del" "r.spl?" "p.?" "1i_4i" "0000412433" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412434" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412435" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412438" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412441" "00010922" "90" "1012" "0" "1012" "0" "c.1012dup" "r.(?)" "p.(Tyr338Leufs*5)" "8" "0000412442" "00010922" "90" "1012" "0" "1012" "0" "c.1012dup" "r.(?)" "p.(Tyr338Leufs*5)" "8" "0000412445" "00010922" "70" "738" "0" "738" "0" "c.738G>C" "r.spl?" "p.(Lys246Asn)" "6" "0000412446" "00010922" "70" "738" "0" "738" "0" "c.738G>C" "r.spl?" "p.(Lys246Asn)" "6" "0000412448" "00010922" "90" "903" "0" "903" "0" "c.903T>G" "r.(?)" "p.(Tyr301*)" "7" "0000412449" "00010922" "90" "903" "0" "903" "0" "c.903T>G" "r.(?)" "p.(Tyr301*)" "7" "0000412450" "00010922" "90" "788" "0" "788" "0" "c.788C>G" "r.(?)" "p.(Ser263*)" "7" "0000412451" "00010922" "90" "788" "0" "788" "0" "c.788C>G" "r.(?)" "p.(Ser263*)" "7" "0000412452" "00010922" "90" "141" "-1" "540" "1" "c.141-1_540+1del" "r.spl?" "p.?" "1i_4i" "0000412455" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412456" "00010922" "70" "632" "0" "632" "0" "c.632G>T" "r.(?)" "p.(Gly211Val)" "5" "0000412459" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412460" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412461" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412462" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412463" "00010922" "70" "779" "0" "779" "0" "c.779G>C" "r.(?)" "p.(Gly260Ala)" "7" "0000412466" "00010922" "90" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412467" "00010922" "90" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "7" "0000412472" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412475" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412476" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412477" "00010922" "70" "632" "0" "632" "0" "c.632G>T" "r.(?)" "p.(Gly211Val)" "5" "0000412481" "00010922" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Glu176Asp)" "4" "0000412482" "00010922" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Glu176Asp)" "4" "0000412483" "00010922" "90" "589" "0" "589" "0" "c.589C>T" "r.(?)" 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"p.(Pro302Leu)" "7" "0000412503" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412512" "00010922" "90" "906" "1" "906" "1" "c.906+1G>T" "r.spl" "p.?" "7i" "0000412517" "00010922" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(His98Tyr)" "3" "0000412521" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412522" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412523" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412530" "00010922" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Gln204*)" "5" "0000412531" "00010922" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Gln204*)" "5" "0000412536" "00010922" "90" "-1" "0" "1393" "0" "c.-1_*1del" "r.0?" "p.0?" "_1_10_" "0000412537" "00010922" "70" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Trp)" "7" "0000412538" "00010922" "70" "1322" "0" "1322" "0" "c.1322C>G" "r.(?)" "p.(Pro441Arg)" "10" "0000412539" "00010922" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Glu176Asp)" "4" "0000412540" "00010922" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Glu176Asp)" "4" "0000412543" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412544" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412545" "00010922" "90" "959" "0" "959" "0" "c.959del" "r.(?)" "p.(Asp320Valfs*6)" "8" "0000412546" "00010922" "90" "959" "0" "959" "0" "c.959del" "r.(?)" "p.(Asp320Valfs*6)" "8" "0000412547" "00010922" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "3" "0000412548" "00010922" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "3" "0000412551" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412552" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412553" "00010922" "35" "418" "0" "418" "0" "c.418G>C" "r.(?)" 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"p.(Val296Glu)" "7" "0000412585" "00010922" "10" "533" "0" "533" "0" "c.533A>T" "r.(?)" "p.(Tyr178Phe)" "4" "0000412586" "00010922" "10" "627" "0" "627" "0" "c.627A>G" "r.(?)" "p.(=)" "5" "0000412587" "00010922" "10" "840" "0" "840" "0" "c.840A>G" "r.(?)" "p.(=)" "7" "0000412588" "00010922" "10" "852" "0" "852" "0" "c.852T>C" "r.(?)" "p.(=)" "7" "0000412589" "00010922" "10" "1196" "13" "1196" "13" "c.1196+13G>C" "r.(?)" "p.(=)" "9i" "0000412590" "00010922" "10" "1196" "34" "1196" "34" "c.1196+34C>G" "r.(?)" "p.(=)" "9i" "0000412591" "00010922" "10" "906" "34" "906" "34" "c.906+34dup" "r.(?)" "p.(=)" "7i" "0000412592" "00010922" "10" "1418" "0" "1418" "0" "*26T>G" "r.(?)" "p.(=)" "10" "0000412593" "00010922" "70" "185" "0" "185" "0" "c.185C>A" "r.(?)" "p.(Ala62Asp)" "2" "0000412594" "00010922" "70" "185" "0" "185" "0" "c.185C>A" "r.(?)" "p.(Ala62Asp)" "2" "0000412598" "00010922" "70" "739" "-1" "1063" "1" "c.739-1_1063+1del" "r.739_1063del" "p.247_355del" "6i_8i" "0000412599" "00010922" "55" "935" "0" "937" "0" "c.935_937del" "r.(?)" "p.(Gly312del)" "8" "0000412600" "00010922" "55" "935" "0" "937" "0" "c.935_937del" "r.(?)" "p.(Gly312del)" "8" "0000412601" "00010922" "70" "256" "1" "256" "1" "c.256+1G>A" "r.spl" "p.?" "2" "0000412602" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412603" "00010922" "55" "847" "0" "853" "0" "c.847_853delinsTACC" "r.(?)" "p.(Gly283_Tyr285delinsTyrHis)" "7" "0000412604" "00010922" "90" "1012" "0" "1012" "0" "c.1012dup" "r.(?)" "p.(Tyr338Leufs*5)" "8" "0000412605" "00010922" "70" "185" "0" "185" "0" "c.185C>A" "r.(?)" "p.(Ala62Asp)" "2" "0000412606" "00010922" "70" "185" "0" "185" "0" "c.185C>A" "r.(?)" "p.(Ala62Asp)" "2" "0000412607" "00010922" "70" "185" "0" "185" "0" "c.185C>A" "r.(?)" 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"p.(Pro302Leu)" "7" "0000412619" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412620" "00010922" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "7" "0000412621" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412622" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412623" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412624" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412625" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412626" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412627" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412628" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412629" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412630" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412631" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412634" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412635" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412636" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412637" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412638" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412639" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412640" "00010922" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" 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"p.(Tyr153*)" "4" "0000412653" "00010922" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Glu176Asp)" "4" "0000412654" "00010922" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Glu176Asp)" "4" "0000412655" "00010922" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "3" "0000412656" "00010922" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "3" "0000412657" "00010922" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "3" "0000412658" "00010922" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "3" "0000412659" "00010922" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000412660" "00010922" "90" "1196" "1" "1196" "1" "c.1196+1G>A" "r.spl" "p.?" "9i" "0000412661" "00010922" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000412662" "00010922" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000412667" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" 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"p.(Tyr301*)" "7" "0000412681" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Thr370Leufs*13)" "9" "0000412682" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Thr370Leufs*13)" "9" "0000412683" "00010922" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Val9Leufs*43)" "1" "0000412684" "00010922" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Val9Leufs*43)" "1" "0000412685" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412686" "00010922" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Cys187Tyr)" "5" "0000412687" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412688" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412689" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412690" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412691" "00010922" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "3" "0000412692" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412693" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412694" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412695" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412696" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412697" "00010922" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277*)" "7" "0000412698" "00010922" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277*)" "7" "0000412699" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412700" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412701" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412702" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412703" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412708" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "2" "0000412710" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412711" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412717" "00010922" "70" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Arg339Aspfs*13)" "8" "0000412719" "00010922" "70" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Arg339Aspfs*13)" "8" "0000412720" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "2" "0000412721" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412722" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412723" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412724" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412725" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412726" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412727" "00010922" "70" "1316" "0" "1316" "0" "c.1316delT" "r.(?)" "p.(Pro439Leufs*14)" "10" "0000412728" "00010922" "70" "1316" "0" "1316" "0" "c.1316delT" "r.(?)" "p.(Pro439Leufs*14)" "10" "0000412729" "00010922" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Val9Leufs*43)" "1" "0000412730" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412731" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412732" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412733" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412734" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412735" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412740" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412741" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412742" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412743" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412744" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412745" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412746" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412747" "00010922" "90" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Met372Serfs*11)" "9" "0000412748" "00010922" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000412749" "00010922" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000412750" "00010922" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "8" "0000412751" "00010922" "70" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Glu336Lys)" "8" "0000412752" "00010922" "70" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Glu336Lys)" "8" "0000412753" "00010922" "70" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Glu336Lys)" "8" "0000412754" "00010922" "70" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Glu336Lys)" "8" "0000412755" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412756" "00010922" "90" "530" "0" "533" "0" "c.530_533delinsATT" "r.(?)" "p.Pro177Hisfs*6" "4" "0000412757" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412758" "00010922" "70" "632" "0" "632" "0" "c.632G>T" "r.(?)" "p.(Gly211Val)" "5" "0000412759" "00010922" "70" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Gly57Arg)" "2" "0000412760" "00010922" "70" "632" "0" "632" "0" "c.632G>T" "r.(?)" "p.(Gly211Val)" "5" "0000412763" "00010922" "35" "418" "0" "418" "0" "c.418G>C" "r.(?)" "p.Ala140Pro" "4" "0000412764" "00010922" "59" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Trp324*)" "8" "0000412765" "00010922" "59" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Trp324*)" "8" "0000412770" "00010922" "90" "141" "-1" "540" "1" "c.141-1_540+1del" "r.spl?" "p.?" "1i_4i" "0000412771" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412772" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412773" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412774" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412775" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000412776" "00010922" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "2" "0000470545" "00010922" "70" "584" "0" "584" "0" "c.584A>G" "r.(?)" "p.(Tyr195Cys)" "" "0000552604" "00010922" "90" "739" "-2" "739" "-2" "c.739-2A>G" "r.spl?" "p.?" "" "0000552605" "00010922" "50" "444" "0" "444" "0" "c.444A>C" "r.(?)" "p.(Arg148Ser)" "" "0000552606" "00010922" "30" "409" "-4" "409" "0" "c.409-4_409del" "r.spl?" "p.?" "" "0000597245" "00010922" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "" "0000614969" "00010922" "30" "510" "0" "510" "0" "c.510G>A" "r.(?)" "p.(Glu170=)" "" "0000648907" "00010922" "10" "1100" "0" "1100" "0" "c.1100A>G" "r.(?)" "p.(Tyr367Cys)" "" "0000674724" "00010922" "70" "140" "1" "140" "1" "c.140+1G>A" "r.(?)" "p.(?)" "" "0000679984" "00010922" "30" "739" "-5" "739" "-5" "c.739-5A>G" "r.spl?" "p.?" "" "0000724780" "00010922" "30" "342" "0" "342" "0" "c.342A>T" "r.(?)" "p.(Val114=)" "" "0000724781" "00010922" "50" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Asp50Asn)" "" "0000786907" "00010922" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Ter)" "7" "0000806408" "00010922" "30" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Glu82=)" "" "0000806409" "00010922" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 414 "{{screeningid}}" "{{variantid}}" "0000081075" "0000130161" "0000081158" "0000130244" "0000186343" "0000412207" "0000186344" "0000412208" "0000186346" "0000412210" "0000186347" "0000412211" "0000186348" "0000412212" "0000186349" "0000412213" "0000186350" "0000412214" "0000186351" "0000412215" "0000186352" "0000412216" "0000186353" "0000412217" "0000186354" "0000412218" "0000186356" "0000412220" "0000186357" "0000412221" "0000186358" "0000412222" "0000186359" "0000412223" "0000186360" "0000412224" "0000186361" "0000412225" "0000186363" "0000412227" "0000186364" "0000412228" "0000186365" "0000412229" "0000186366" "0000412230" "0000186367" "0000412231" "0000186368" "0000412232" "0000186369" "0000412233" "0000186370" "0000412234" "0000186371" "0000412235" "0000186371" "0000412236" "0000186372" "0000412237" "0000186372" "0000412238" "0000186373" "0000412239" "0000186373" "0000412240" 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