### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = D2HGDH) # 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}}" "D2HGDH" "D-2-hydroxyglutarate dehydrogenase" "2" "p25.3" "unknown" "NG_012012.1" "UD_132118474754" "" "http://www.LOVD.nl/D2HGDH" "" "1" "28358" "728294" "609186" "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/D2HGDH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-05-07 00:00:00" "03070" "2019-05-13 15:31:35" "00000" "2025-05-05 21:14:00" ## 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}}" "00006068" "D2HGDH" "D-2-hydroxyglutarate dehydrogenase" "001" "NM_152783.3" "" "NP_689996.4" "" "" "" "-173" "2413" "1566" "242674030" "242708231" "" "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" "2024-11-23 09:38:12" "02310" "D2HGA1" "aciduria, D-2-hydroxyglutaric, type 1 (D2HGA-1)" "AR" "600721" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "D2HGDH" "00139" "D2HGDH" "02310" ## Individuals ## Do not remove or alter this header ## ## Count = 89 "{{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}}" "00184829" "" "" "" "1" "" "01815" "{PMID:Struys 2005:16037974}" "" "F" "" "Israel" "" "0" "" "" "" "" "00184830" "" "" "" "1" "" "01815" "{PMID:Struys 2005:16037974}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184831" "" "" "" "1" "" "01815" "{PMID:Struys 2005:16037974}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184832" "" "" "" "1" "" "01815" "{PMID:Struys 2005:16037974}" "" "F" "" "Israel" "" "0" "" "" "" "" "00184833" "" "" "" "1" "" "01815" "{PMID:Struys 2004:15609246}" "" "M" "" "Italy" "" "0" "" "" "" "" "00184834" "" "" "" "1" "" "01815" "{PMID:Struys 2004:15609246}" "" "F" "" "Italy" "" "0" "" "" "" "" "00184835" "" "" "" "1" "" "01815" "{PMID:Struys 2004:15609246}" "" "M" "" "Italy" "" "0" "" "" "" "" "00184836" "" "" "" "1" "" "01815" "{PMID:Misra 2005:16081310}" "" "F" "" "United States" "" "0" "" "" "" "" "00184837" "" "" "" "1" "" "01815" "{PMID:Misra 2005:16081310}" "" "F" "" "United States" "" "0" "" "" "" "" "00184838" "" "" "" "1" "" "01815" "{PMID:Misra 2005:16081310}" "" "" "" "United States" "" "0" "" "" "" "" "00184839" "" "" "" "1" "" "01815" "{PMID:Misra 2005:16081310}" "" "" "" "United States" "" "0" "" "" "" "" "00184840" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "Italy" "" "0" "" "" "" "" "00184841" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Italy" "" "0" "" "" "" "" "00184842" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "Italy" "" "0" "" "" "" "" "00184843" "" "" "" "1" "" "01815" "{PMID:Struys 2005:16037974}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184844" "" "" "" "1" "" "01815" "{PMID:Struys 2005:16037974}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184845" "" "" "" "1" "" "01815" "{PMID:Struys 2005:16037974}" "" "F" "" "Israel" "" "0" "" "" "" "" "00184846" "" "" "" "1" "" "01815" "{PMID:Struys 2005:16037974}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184847" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "United States" "" "0" "" "" "" "" "00184848" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "United States" "" "0" "" "" "" "" "00184849" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "United States" "" "0" "" "" "" "" "00184850" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Argentina" "" "0" "" "" "" "" "00184851" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "United States" "" "0" "" "" "" "" "00184852" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "United States" "" "0" "" "" "" "" "00184853" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "United States" "" "0" "" "" "" "" "00184854" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184855" "" "" "" "1" "" "01815" "{PMID:Struys 2005:16037974}" "" "F" "" "United States" "" "0" "" "" "" "" "00184856" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "" "" "0" "" "" "" "" "00184857" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "Poland" "" "0" "" "" "" "" "00184858" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Poland" "" "0" "" "" "" "" "00184859" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Poland" "" "0" "" "" "" "" "00184860" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184861" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184862" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184863" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00184864" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Denmark" "" "0" "" "" "" "" "00184865" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00184866" "" "" "" "1" "" "01815" "" "" "F" "" "Denmark" "" "0" "" "" "" "" "00184867" "" "" "" "1" "" "01815" "" "" "M" "" "Austria" "" "0" "" "" "" "" "00184868" "" "" "" "1" "" "01815" "" "" "M" "" "Austria" "" "0" "" "" "" "" "00184869" "" "" "" "1" "" "01815" "" "" "F" "" "Canada" "" "0" "" "" "" "" "00184870" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Canada" "" "0" "" "" "" "" "00184871" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Canada" "" "0" "" "" "" "" "00184872" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "Canada" "" "0" "" "" "" "" "00184873" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Italy" "" "0" "" "" "" "" "00184874" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184876" "" "" "" "1" "" "01815" "" "" "M" "" "Canada" "" "0" "" "" "" "" "00184877" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184878" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Germany" "" "0" "" "" "" "" "00184879" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Germany" "" "0" "" "" "" "" "00184880" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "Germany" "" "0" "" "" "" "" "00184881" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "United States" "" "0" "" "" "" "" "00184882" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germany" "" "0" "" "" "" "" "00184883" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "Norway" "" "0" "" "" "" "" "00184884" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "Norway" "" "0" "" "" "" "" "00184885" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "Norway" "" "0" "" "" "" "" "00184886" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Italy" "" "0" "" "" "" "" "00184887" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184888" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184889" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184890" "" "" "" "1" "" "01815" "{PMID:21384162:Ali Pervaiz 2011}" "" "" "" "" "" "0" "" "" "" "" "00184891" "" "" "" "1" "" "01815" "" "" "M" "" "Australia" "" "0" "" "" "" "" "00184892" "" "" "" "1" "" "01815" "" "" "F" "" "Australia" "" "0" "" "" "" "" "00184893" "" "" "" "1" "" "01815" "" "" "M" "" "Australia" "" "0" "" "" "" "" "00184894" "" "" "" "1" "" "01815" "" "" "M" "" "France" "" "0" "" "" "" "" "00184895" "" "" "" "1" "" "01815" "" "" "F" "" "France" "" "0" "" "" "" "" "00184896" "" "" "" "1" "" "01815" "" "" "M" "" "France" "" "0" "" "" "" "" "00184898" "" "" "" "1" "" "01815" "{PMID:Haliloglu 2009:19169842}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00184899" "" "" "" "1" "" "01815" "" "" "M" "" "Latvia" "" "0" "" "" "" "" "00184900" "" "" "" "1" "" "01815" "" "" "F" "" "Latvia" "" "0" "" "" "" "" "00184901" "" "" "" "1" "" "01815" "" "" "F" "" "Latvia" "" "0" "" "" "" "" "00184902" "" "" "" "1" "" "01815" "" "" "M" "" "Latvia" "" "0" "" "" "" "" "00184903" "" "" "" "1" "" "01815" "" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00184904" "" "" "" "1" "" "01815" "" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00184905" "" "" "" "1" "" "01815" "" "" "F" "" "Saudi Arabia" "" "0" "" "" "" "" "00184906" "" "" "" "1" "" "01815" "" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00184907" "" "" "" "1" "" "01815" "" "" "" "" "Sweden" "" "0" "" "" "" "" "00184908" "" "" "" "1" "" "01815" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184909" "" "" "" "1" "" "01815" "" "" "M" "" "Denmark" "" "0" "" "" "" "" "00184913" "" "" "" "1" "" "01815" "" "" "F" "" "Sweden" "" "0" "" "" "" "" "00184914" "" "" "" "1" "" "01815" "" "" "M" "" "Sweden" "" "0" "" "" "" "" "00184916" "" "" "" "1" "" "01815" "{PMID:Struys 2005:16037974}" "" "M" "" "United States" "" "0" "" "" "" "" "00184917" "" "" "" "1" "" "01815" "{PMID:Kranendijk 2010:20020533}" "" "M" "" "United States" "" "0" "" "" "" "" "00292668" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292669" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292670" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292671" "" "" "" "70" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304808" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374708" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5901" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 89 "{{individualid}}" "{{diseaseid}}" "00184829" "02310" "00184830" "00000" "00184831" "02310" "00184832" "00000" "00184833" "02310" "00184834" "00000" "00184835" "00000" "00184836" "02310" "00184837" "02310" "00184838" "00000" "00184839" "00000" "00184840" "02310" "00184841" "00000" "00184842" "00000" "00184843" "02310" "00184844" "00000" "00184845" "00000" "00184846" "00000" "00184847" "02310" "00184848" "00000" "00184849" "00000" "00184850" "02310" "00184851" "02310" "00184852" "00000" "00184853" "00000" "00184854" "02310" "00184855" "02310" "00184856" "02310" "00184857" "02310" "00184858" "00000" "00184859" "00000" "00184860" "02310" "00184861" "00000" "00184862" "00000" "00184863" "02310" "00184864" "00000" "00184865" "00000" "00184866" "00000" "00184867" "00000" "00184868" "00000" "00184869" "00000" "00184870" "02310" "00184871" "00000" "00184872" "00000" "00184873" "02310" "00184874" "02310" "00184876" "00000" "00184877" "02310" "00184878" "02310" "00184879" "00000" "00184880" "00000" "00184881" "02310" "00184882" "00000" "00184883" "02310" "00184884" "00000" "00184885" "00000" "00184886" "00000" "00184887" "00000" "00184888" "00000" "00184889" "02310" "00184890" "02310" "00184891" "02310" "00184892" "00000" "00184893" "00000" "00184894" "02310" "00184895" "00000" "00184896" "00000" "00184898" "02310" "00184899" "02310" "00184900" "02310" "00184901" "00000" "00184902" "00000" "00184903" "02310" "00184904" "02310" "00184905" "00000" "00184906" "00000" "00184907" "02310" "00184908" "02310" "00184909" "00000" "00184913" "00000" "00184914" "00000" "00184916" "02310" "00184917" "02310" "00292668" "00198" "00292669" "00198" "00292670" "00198" "00292671" "00198" "00304808" "00198" "00374708" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 02310 ## Count = 61 "{{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}}" "0000144961" "02310" "00184829" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144962" "00000" "00184830" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144963" "02310" "00184831" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144964" "00000" "00184832" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144965" "02310" "00184833" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144966" "00000" "00184834" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144967" "00000" "00184835" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144968" "02310" "00184836" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144969" "02310" "00184837" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144970" "00000" "00184838" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144971" "00000" "00184839" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144972" "02310" "00184840" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144973" "00000" "00184841" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144974" "00000" "00184842" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144975" "02310" "00184843" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144976" "00000" "00184844" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144977" "00000" "00184845" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144978" "00000" "00184846" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144979" "02310" "00184847" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144980" "00000" "00184848" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144981" "00000" "00184849" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144982" "02310" "00184850" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144983" "02310" "00184851" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144984" "00000" "00184852" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144985" "00000" "00184853" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144986" "02310" "00184854" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144987" "02310" "00184855" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144988" "02310" "00184856" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144989" "02310" "00184857" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144990" "00000" "00184858" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144991" "00000" "00184859" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144992" "02310" "00184860" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144993" "00000" "00184861" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144994" "00000" "00184862" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144995" "02310" "00184863" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000144996" "00000" "00184864" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144997" "00000" "00184865" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145002" "02310" "00184870" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145003" "00000" "00184871" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145004" "00000" "00184872" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145005" "02310" "00184873" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145006" "02310" "00184874" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145009" "02310" "00184877" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145010" "02310" "00184878" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145011" "00000" "00184879" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145012" "00000" "00184880" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145013" "02310" "00184881" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145014" "00000" "00184882" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145015" "02310" "00184883" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145016" "00000" "00184884" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145017" "00000" "00184885" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145018" "00000" "00184886" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145019" "00000" "00184887" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145020" "00000" "00184888" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000145021" "02310" "00184889" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145022" "02310" "00184890" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145030" "02310" "00184898" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145035" "02310" "00184903" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145048" "02310" "00184916" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000145049" "02310" "00184917" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "D2HGA-1" "D2HGA" "" "0000269918" "00198" "00374708" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 89 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000185796" "00184829" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185797" "00184830" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185798" "00184831" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185799" "00184832" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185800" "00184833" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185801" "00184834" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185802" "00184835" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185803" "00184836" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185804" "00184837" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185805" "00184838" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185806" "00184839" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185807" "00184840" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185808" "00184841" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185809" "00184842" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185810" "00184843" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185811" "00184844" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185812" "00184845" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185813" "00184846" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185814" "00184847" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185815" "00184848" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185816" "00184849" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185817" "00184850" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185818" "00184851" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185819" "00184852" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185820" "00184853" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185821" "00184854" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185822" "00184855" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185823" "00184856" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185824" "00184857" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185825" "00184858" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185826" "00184859" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185827" "00184860" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185828" "00184861" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185829" "00184862" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185830" "00184863" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185831" "00184864" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185832" "00184865" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185833" "00184866" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185834" "00184867" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ;MLPA" "DNA" "" "" "0000185835" "00184868" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ;MLPA" "DNA" "" "" "0000185836" "00184869" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ;MLPA" "DNA" "" "" "0000185837" "00184870" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185838" "00184871" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185839" "00184872" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185840" "00184873" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ;MLPA" "DNA" "" "" "0000185841" "00184874" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ;MLPA" "DNA" "" "" "0000185843" "00184876" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ;MLPA" "DNA" "" "" "0000185844" "00184877" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185845" "00184878" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185846" "00184879" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185847" "00184880" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185848" "00184881" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185849" "00184882" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185850" "00184883" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185851" "00184884" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185852" "00184885" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185853" "00184886" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185854" "00184887" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185855" "00184888" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185856" "00184889" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185857" "00184890" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185858" "00184891" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185859" "00184892" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185860" "00184893" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185861" "00184894" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185862" "00184895" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185863" "00184896" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185865" "00184898" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185866" "00184899" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185867" "00184900" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185868" "00184901" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185869" "00184902" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185870" "00184903" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185871" "00184904" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185872" "00184905" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185873" "00184906" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185874" "00184907" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185875" "00184908" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185876" "00184909" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185880" "00184913" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185881" "00184914" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185883" "00184916" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000185884" "00184917" "1" "01815" "01815" "2016-01-05 10:44:38" "" "" "SEQ" "DNA" "" "" "0000293836" "00292668" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293837" "00292669" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293838" "00292670" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293839" "00292671" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305937" "00304808" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375902" "00374708" "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 = 84 "{{screeningid}}" "{{geneid}}" "0000185796" "D2HGDH" "0000185797" "D2HGDH" "0000185798" "D2HGDH" "0000185799" "D2HGDH" "0000185800" "D2HGDH" "0000185801" "D2HGDH" "0000185802" "D2HGDH" "0000185803" "D2HGDH" "0000185804" "D2HGDH" "0000185805" "D2HGDH" "0000185806" "D2HGDH" "0000185807" "D2HGDH" "0000185808" "D2HGDH" "0000185809" "D2HGDH" "0000185810" "D2HGDH" "0000185811" "D2HGDH" "0000185812" "D2HGDH" "0000185813" "D2HGDH" "0000185814" "D2HGDH" "0000185815" "D2HGDH" "0000185816" "D2HGDH" "0000185817" "D2HGDH" "0000185818" "D2HGDH" "0000185819" "D2HGDH" "0000185820" "D2HGDH" "0000185821" "D2HGDH" "0000185822" "D2HGDH" "0000185823" "D2HGDH" "0000185824" "D2HGDH" "0000185825" "D2HGDH" "0000185826" "D2HGDH" "0000185827" "D2HGDH" "0000185828" "D2HGDH" "0000185829" "D2HGDH" "0000185830" "D2HGDH" "0000185831" "D2HGDH" "0000185832" "D2HGDH" "0000185833" "D2HGDH" "0000185834" "D2HGDH" "0000185835" "D2HGDH" "0000185836" "D2HGDH" "0000185837" "D2HGDH" "0000185838" "D2HGDH" "0000185839" "D2HGDH" "0000185840" "D2HGDH" "0000185841" "D2HGDH" "0000185843" "D2HGDH" "0000185844" "D2HGDH" "0000185845" "D2HGDH" "0000185846" "D2HGDH" "0000185847" "D2HGDH" "0000185848" "D2HGDH" "0000185849" "D2HGDH" "0000185850" "D2HGDH" "0000185851" "D2HGDH" "0000185852" "D2HGDH" "0000185853" "D2HGDH" "0000185854" "D2HGDH" "0000185855" "D2HGDH" "0000185856" "D2HGDH" "0000185857" "D2HGDH" "0000185858" "D2HGDH" "0000185859" "D2HGDH" "0000185860" "D2HGDH" "0000185861" "D2HGDH" "0000185862" "D2HGDH" "0000185863" "D2HGDH" "0000185865" "D2HGDH" "0000185866" "D2HGDH" "0000185867" "D2HGDH" "0000185868" "D2HGDH" "0000185869" "D2HGDH" "0000185870" "D2HGDH" "0000185871" "D2HGDH" "0000185872" "D2HGDH" "0000185873" "D2HGDH" "0000185874" "D2HGDH" "0000185875" "D2HGDH" "0000185876" "D2HGDH" "0000185880" "D2HGDH" "0000185881" "D2HGDH" "0000185883" "D2HGDH" "0000185884" "D2HGDH" "0000375902" "D2HGDH" ## 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 = 125 "{{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}}" "0000249003" "0" "10" "2" "242680430" "242680430" "subst" "0.48642" "02325" "D2HGDH_000001" "g.242680430A>G" "" "" "" "D2HGDH(NM_152783.5):c.293-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241741015A>G" "" "benign" "" "0000267266" "0" "30" "2" "242690726" "242690726" "subst" "0.00953654" "02325" "D2HGDH_000006" "g.242690726G>A" "" "" "" "D2HGDH(NM_152783.5):c.1063G>A (p.G355S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241751311G>A" "" "likely benign" "" "0000267267" "0" "10" "2" "242684115" "242684115" "subst" "0.483513" "02325" "D2HGDH_000004" "g.242684115T>C" "" "" "" "D2HGDH(NM_152783.5):c.685-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241744700T>C" "" "benign" "" "0000267268" "0" "10" "2" "242688366" "242688366" "subst" "0" "02325" "D2HGDH_000005" "g.242688366C>T" "" "" "" "D2HGDH(NM_152783.5):c.854-1200C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241748951C>T" "" "benign" "" "0000274733" "0" "30" "2" "242681922" "242681922" "subst" "0.00176184" "01943" "D2HGDH_000002" "g.242681922C>T" "" "" "" "D2HGDH(NM_152783.4):c.423C>T (p.P141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241742507C>T" "" "likely benign" "" "0000328263" "0" "50" "2" "242674646" "242674646" "subst" "0" "01804" "D2HGDH_015053" "g.242674646C>T" "" "" "" "D2HGDH(NM_152783.3):c.7C>T (p.(Pro3Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241735231C>T" "" "VUS" "" "0000328265" "0" "30" "2" "242683097" "242683097" "subst" "4.08077E-6" "01804" "D2HGDH_000003" "g.242683097G>A" "" "" "" "D2HGDH(NM_152783.3):c.551G>A (p.(Arg184Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241743682G>A" "" "likely benign" "" "0000411439" "3" "90" "2" "242684122" "242684122" "subst" "2.43661E-5" "01815" "D2HGDH_015003" "g.242684122A>G" "" "{PMID:Struys 2005:16037974}" "" "IVS5-2A>G" "" "Germline" "" "" "0" "" "" "g.241744707A>G" "" "pathogenic" "" "0000411440" "1" "90" "2" "242684122" "242684122" "subst" "2.43661E-5" "01815" "D2HGDH_015003" "g.242684122A>G" "" "{PMID:Struys 2005:16037974}" "" "IVS5-2A>G" "" "Germline" "" "" "0" "" "" "g.241744707A>G" "" "pathogenic" "" "0000411441" "3" "90" "2" "242684122" "242684122" "subst" "2.43661E-5" "01815" "D2HGDH_015003" "g.242684122A>G" "" "{PMID:Struys 2005:16037974}" "" "IVS5-2A>G" "" "Germline" "" "" "0" "" "" "g.241744707A>G" "" "pathogenic" "" "0000411442" "1" "90" "2" "242684122" "242684122" "subst" "2.43661E-5" "01815" "D2HGDH_015003" "g.242684122A>G" "" "{PMID:Struys 2005:16037974}" "" "IVS5-2A>G" "" "Germline" "" "" "0" "" "" "g.241744707A>G" "" "pathogenic" "" "0000411443" "3" "90" "2" "242707149" "242707149" "subst" "0" "01815" "D2HGDH_015004" "g.242707149T>C" "" "{PMID:Struys 2004:15609246}" "" "" "" "Germline" "" "" "0" "" "" "g.241767734T>C" "" "pathogenic" "" "0000411444" "1" "90" "2" "242707149" "242707149" "subst" "0" "01815" "D2HGDH_015004" "g.242707149T>C" "" "{PMID:Struys 2004:15609246}" "" "" "" "Germline" "" "" "0" "" "" "g.241767734T>C" "" "pathogenic" "" "0000411445" "1" "90" "2" "242707149" "242707149" "subst" "0" "01815" "D2HGDH_015004" "g.242707149T>C" "" "{PMID:Struys 2004:15609246}" "" "" "" "Germline" "" "" "0" "" "" "g.241767734T>C" "" "pathogenic" "" "0000411446" "1" "90" "2" "242680480" "242680481" "dup" "0" "01815" "D2HGDH_015005" "g.242680480_242680481dup" "" "{PMID:Misra 2005:16081310}" "" "326_327dupTC" "" "Germline" "" "" "0" "" "" "g.241741065_241741066dup" "" "pathogenic" "" "0000411447" "2" "90" "2" "242690786" "242690786" "subst" "1.22079E-5" "01815" "D2HGDH_015006" "g.242690786G>T" "" "{PMID:Misra 2005:16081310}" "" "" "" "Germline" "" "" "0" "" "" "g.241751371G>T" "" "pathogenic" "" "0000411448" "1" "90" "2" "242680480" "242680481" "dup" "0" "01815" "D2HGDH_015005" "g.242680480_242680481dup" "" "{PMID:Misra 2005:16081310}" "" "326_327dupTC" "" "Germline" "" "" "0" "" "" "g.241741065_241741066dup" "" "pathogenic" "" "0000411449" "2" "90" "2" "242690786" "242690786" "subst" "1.22079E-5" "01815" "D2HGDH_015006" "g.242690786G>T" "" "{PMID:Misra 2005:16081310}" "" "" "" "Germline" "" "" "0" "" "" "g.241751371G>T" "" "pathogenic" "" "0000411450" "1" "90" "2" "242690786" "242690786" "subst" "1.22079E-5" "01815" "D2HGDH_015006" "g.242690786G>T" "" "{PMID:Misra 2005:16081310}" "" "" "" "Germline" "" "" "0" "" "" "g.241751371G>T" "" "pathogenic" "" "0000411451" "1" "90" "2" "242680480" "242680481" "dup" "0" "01815" "D2HGDH_015005" "g.242680480_242680481dup" "" "{PMID:Misra 2005:16081310}" "" "326_327dupTC" "" "Germline" "" "" "0" "" "" "g.241741065_241741066dup" "" "pathogenic" "" "0000411452" "1" "90" "2" "242680481" "242680481" "subst" "8.15042E-6" "01815" "D2HGDH_015007" "g.242680481C>G" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241741066C>G" "" "pathogenic" "" "0000411453" "2" "90" "2" "242681956" "242681956" "subst" "0" "01815" "D2HGDH_015008" "g.242681956A>G" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241742541A>G" "" "pathogenic" "" "0000411454" "2" "90" "2" "242680481" "242680481" "subst" "8.15042E-6" "01815" "D2HGDH_015007" "g.242680481C>G" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241741066C>G" "" "pathogenic" "" "0000411455" "2" "90" "2" "242681956" "242681956" "subst" "0" "01815" "D2HGDH_015008" "g.242681956A>G" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241742541A>G" "" "pathogenic" "" "0000411456" "3" "90" "2" "242707133" "242707133" "subst" "0" "01815" "D2HGDH_015009" "g.242707133A>G" "" "{PMID:Struys 2005:16037974}" "" "" "" "Germline" "" "" "0" "" "" "g.241767718A>G" "" "pathogenic" "" "0000411457" "1" "90" "2" "242707133" "242707133" "subst" "0" "01815" "D2HGDH_015009" "g.242707133A>G" "" "{PMID:Struys 2005:16037974}" "" "" "" "Germline" "" "" "0" "" "" "g.241767718A>G" "" "pathogenic" "" "0000411458" "1" "90" "2" "242707133" "242707133" "subst" "0" "01815" "D2HGDH_015009" "g.242707133A>G" "" "{PMID:Struys 2005:16037974}" "" "" "" "Germline" "" "" "0" "" "" "g.241767718A>G" "" "pathogenic" "" "0000411459" "1" "90" "2" "242707133" "242707133" "subst" "0" "01815" "D2HGDH_015009" "g.242707133A>G" "" "{PMID:Struys 2005:16037974}" "" "" "" "Germline" "" "" "0" "" "" "g.241767718A>G" "" "pathogenic" "" "0000411460" "3" "90" "2" "242695379" "242695379" "subst" "4.50561E-5" "01815" "D2HGDH_015010" "g.242695379G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755964G>A" "" "pathogenic" "" "0000411461" "1" "90" "2" "242695379" "242695379" "subst" "4.50561E-5" "01815" "D2HGDH_015010" "g.242695379G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755964G>A" "" "pathogenic" "" "0000411462" "1" "90" "2" "242695379" "242695379" "subst" "4.50561E-5" "01815" "D2HGDH_015010" "g.242695379G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755964G>A" "" "pathogenic" "" "0000411463" "3" "90" "2" "242681880" "242681880" "subst" "4.09205E-6" "01815" "D2HGDH_015011" "g.242681880C>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241742465C>A" "" "pathogenic" "" "0000411464" "1" "90" "2" "242684294" "242684294" "subst" "0" "01815" "D2HGDH_015012" "g.242684294T>C" "" "{PMID:Kranendijk 2010:20020533}" "" "" "IVS6+2T>C" "Germline" "" "" "0" "" "" "g.241744879T>C" "" "pathogenic" "" "0000411465" "2" "90" "2" "242683188" "242683188" "del" "0" "01815" "D2HGDH_015013" "g.242683188del" "" "{PMID:Kranendijk 2010:20020533}" "" "642delT" "" "Germline" "" "" "0" "" "" "g.241743773del" "" "pathogenic" "" "0000411466" "1" "90" "2" "242684294" "242684294" "subst" "0" "01815" "D2HGDH_015012" "g.242684294T>C" "" "{PMID:Kranendijk 2010:20020533}" "" "" "IVS6+2T>C" "Germline" "" "" "0" "" "" "g.241744879T>C" "" "pathogenic" "" "0000411467" "1" "90" "2" "242683188" "242683188" "del" "0" "01815" "D2HGDH_015013" "g.242683188del" "" "{PMID:Kranendijk 2010:20020533}" "" "642delT" "" "Germline" "" "" "0" "" "" "g.241743773del" "" "pathogenic" "" "0000411468" "3" "90" "2" "242683051" "242683051" "subst" "2.04757E-5" "01815" "D2HGDH_015014" "g.242683051C>T" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241743636C>T" "" "pathogenic" "" "0000411469" "1" "90" "2" "242680425" "242680425" "subst" "4.0866E-6" "01815" "D2HGDH_015015" "g.242680425A>G" "" "{PMID:Struys 2005:16037974}" "" "" "" "Germline" "" "" "0" "" "" "g.241741010A>G" "" "pathogenic" "" "0000411470" "2" "90" "2" "242681939" "242681939" "subst" "0" "01815" "D2HGDH_015016" "g.242681939T>G" "" "{PMID:Struys 2004:15609246}" "" "" "" "Germline" "" "" "0" "" "" "g.241742524T>G" "" "pathogenic" "" "0000411471" "3" "90" "2" "242707155" "242707155" "subst" "1.64908E-5" "01815" "D2HGDH_015017" "g.242707155C>T" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241767740C>T" "" "pathogenic" "" "0000411472" "3" "90" "2" "242681891" "242681891" "subst" "0" "01815" "D2HGDH_015018" "g.242681891G>T" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241742476G>T" "" "pathogenic" "" "0000411473" "1" "90" "2" "242681891" "242681891" "subst" "0" "01815" "D2HGDH_015018" "g.242681891G>T" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241742476G>T" "" "pathogenic" "" "0000411474" "1" "90" "2" "242683160" "242683160" "subst" "0" "01815" "D2HGDH_015019" "g.242683160C>T" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241743745C>T" "" "pathogenic" "" "0000411475" "2" "90" "2" "242695399" "242695399" "subst" "0.00719287" "01815" "D2HGDH_015020" "g.242695399G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755984G>A" "" "pathogenic" "" "0000411476" "3" "90" "2" "242707247" "242707247" "subst" "0" "01815" "D2HGDH_015021" "g.242707247G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241767832G>A" "" "pathogenic" "" "0000411477" "1" "90" "2" "242707247" "242707247" "subst" "0" "01815" "D2HGDH_015021" "g.242707247G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241767832G>A" "" "pathogenic" "" "0000411478" "1" "90" "2" "242707247" "242707247" "subst" "0" "01815" "D2HGDH_015021" "g.242707247G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241767832G>A" "" "pathogenic" "" "0000411479" "3" "90" "2" "242684131" "242684131" "subst" "0" "01815" "D2HGDH_015022" "g.242684131C>T" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241744716C>T" "" "pathogenic" "" "0000411480" "1" "90" "2" "242684131" "242684131" "subst" "0" "01815" "D2HGDH_015022" "g.242684131C>T" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241744716C>T" "" "pathogenic" "" "0000411481" "1" "90" "2" "242684131" "242684131" "subst" "0" "01815" "D2HGDH_015022" "g.242684131C>T" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241744716C>T" "" "pathogenic" "" "0000411482" "1" "55" "2" "242683055" "242683055" "subst" "4.09423E-6" "01815" "D2HGDH_015023" "g.242683055C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241743640C>A" "" "VUS" "" "0000411483" "1" "55" "2" "242707175" "242707175" "subst" "0.000495466" "01815" "D2HGDH_015024" "g.242707175C>T" "" "" "" "" "MLPA, normal" "Germline" "" "" "0" "" "" "g.241767760C>T" "" "VUS" "" "0000411484" "1" "55" "2" "242707175" "242707175" "subst" "0.000495466" "01815" "D2HGDH_015024" "g.242707175C>T" "" "" "" "" "MLPA, normal" "Germline" "" "" "0" "" "" "g.241767760C>T" "" "VUS" "" "0000411485" "1" "55" "2" "242695298" "242695298" "subst" "0" "01815" "D2HGDH_015025" "g.242695298C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241755883C>G" "" "VUS" "" "0000411486" "3" "90" "2" "242684136" "242684136" "subst" "2.43651E-5" "01815" "D2HGDH_015026" "g.242684136G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241744721G>A" "" "pathogenic" "" "0000411487" "1" "90" "2" "242684136" "242684136" "subst" "2.43651E-5" "01815" "D2HGDH_015026" "g.242684136G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241744721G>A" "" "pathogenic" "" "0000411488" "1" "90" "2" "242684136" "242684136" "subst" "2.43651E-5" "01815" "D2HGDH_015026" "g.242684136G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241744721G>A" "" "pathogenic" "" "0000411489" "3" "90" "2" "242695263" "242707385" "del" "0" "01815" "D2HGDH_015027" "g.(242690804_242695263)_(242707385_?)del" "" "{PMID:Kranendijk 2010:20020533}" "" "del ex9-10" "MLPA, Ex 9 and 10 deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000411490" "3" "90" "2" "242674547" "242684293" "del" "0" "01815" "D2HGDH_015028" "g.(?_242674547)_(242684293_242689565)del" "" "{PMID:Kranendijk 2010:20020533}" "" "del ex1-6" "MLPA, Ex 2 and 6 deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000411492" "1" "55" "2" "242695298" "242695298" "subst" "0" "01815" "D2HGDH_015025" "g.242695298C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241755883C>G" "" "VUS" "" "0000411493" "3" "90" "2" "242683061" "242683061" "subst" "2.04409E-5" "01815" "D2HGDH_015030" "g.242683061G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241743646G>A" "" "pathogenic" "" "0000411494" "1" "90" "2" "242695318" "242695318" "subst" "1.22013E-5" "01815" "D2HGDH_015031" "g.242695318G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755903G>A" "" "pathogenic" "" "0000411495" "2" "90" "2" "242707151" "242707152" "del" "0" "01815" "D2HGDH_015032" "g.242707151_242707152del" "" "{PMID:Kranendijk 2010:20020533}" "" "1333_1334delAC" "" "Germline" "" "" "0" "" "" "g.241767736_241767737del" "" "pathogenic" "" "0000411496" "1" "90" "2" "242707151" "242707152" "del" "0" "01815" "D2HGDH_015032" "g.242707151_242707152del" "" "{PMID:Kranendijk 2010:20020533}" "" "1333_1334delAC" "" "Germline" "" "" "0" "" "" "g.241767736_241767737del" "" "pathogenic" "" "0000411497" "1" "90" "2" "242695318" "242695318" "subst" "1.22013E-5" "01815" "D2HGDH_015031" "g.242695318G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755903G>A" "" "pathogenic" "" "0000411498" "3" "90" "2" "242683112" "242683112" "subst" "1.22599E-5" "01815" "D2HGDH_015033" "g.242683112C>T" "" "{PMID:Kranendijk 2010:20020533}" "" "566C>T" "" "Germline" "" "" "0" "" "" "g.241743697C>T" "" "pathogenic" "" "0000411499" "1" "90" "2" "242707151" "242707152" "del" "0" "01815" "D2HGDH_015032" "g.242707151_242707152del" "" "{PMID:Kranendijk 2010:20020533}" "" "1333_1334delAC" "" "Germline" "" "" "0" "" "" "g.241767736_241767737del" "" "pathogenic" "" "0000411500" "1" "90" "2" "242695323" "242695323" "subst" "0" "01815" "D2HGDH_015034" "g.242695323C>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755908C>A" "" "pathogenic" "" "0000411501" "2" "90" "2" "242695399" "242695399" "subst" "0.00719287" "01815" "D2HGDH_015020" "g.242695399G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755984G>A" "" "pathogenic" "" "0000411502" "1" "90" "2" "242695323" "242695323" "subst" "0" "01815" "D2HGDH_015034" "g.242695323C>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755908C>A" "" "pathogenic" "" "0000411503" "1" "90" "2" "242695399" "242695399" "subst" "0.00719287" "01815" "D2HGDH_015020" "g.242695399G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755984G>A" "" "pathogenic" "" "0000411504" "1" "90" "2" "242680481" "242680481" "subst" "8.15042E-6" "01815" "D2HGDH_015007" "g.242680481C>G" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241741066C>G" "" "pathogenic" "" "0000411505" "1" "90" "2" "242683061" "242683061" "subst" "2.04409E-5" "01815" "D2HGDH_015030" "g.242683061G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241743646G>A" "" "pathogenic" "" "0000411506" "1" "90" "2" "242683061" "242683061" "subst" "2.04409E-5" "01815" "D2HGDH_015030" "g.242683061G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241743646G>A" "" "pathogenic" "" "0000411507" "3" "90" "2" "242683061" "242683061" "subst" "2.04409E-5" "01815" "D2HGDH_015030" "g.242683061G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241743646G>A" "" "pathogenic" "" "0000411508" "1" "55" "2" "242681872" "242681872" "subst" "0" "01815" "D2HGDH_015036" "g.242681872G>A" "" "{PMID:21384162:Ali Pervaiz 2011}" "" "" "" "Germline" "" "" "0" "" "" "g.241742457G>A" "" "VUS" "" "0000411509" "2" "55" "2" "242689570" "242689570" "subst" "1.62827E-5" "01815" "D2HGDH_015037" "g.242689570C>A" "" "{PMID:21384162:Ali Pervaiz 2011}" "" "" "" "Germline" "" "" "0" "" "" "g.241750155C>A" "" "VUS" "" "0000411510" "1" "55" "2" "242683052" "242683052" "subst" "0" "01815" "D2HGDH_015038" "g.242683052A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241743637A>C" "" "VUS" "" "0000411511" "2" "55" "2" "242683145" "242683145" "subst" "0" "01815" "D2HGDH_015039" "g.242683145T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241743730T>C" "" "VUS" "" "0000411512" "1" "55" "2" "242683145" "242683145" "subst" "0" "01815" "D2HGDH_015039" "g.242683145T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241743730T>C" "" "VUS" "" "0000411513" "1" "55" "2" "242683052" "242683052" "subst" "0" "01815" "D2HGDH_015038" "g.242683052A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241743637A>C" "" "VUS" "" "0000411514" "3" "55" "2" "242684253" "242684253" "subst" "0" "01815" "D2HGDH_015040" "g.242684253T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241744838T>C" "" "VUS" "" "0000411515" "1" "55" "2" "242684253" "242684253" "subst" "0" "01815" "D2HGDH_015040" "g.242684253T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241744838T>C" "" "VUS" "" "0000411516" "1" "55" "2" "242684253" "242684253" "subst" "0" "01815" "D2HGDH_015040" "g.242684253T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241744838T>C" "" "VUS" "" "0000411518" "3" "90" "2" "242681957" "242681957" "subst" "0" "01815" "D2HGDH_015042" "g.242681957T>C" "" "{PMID:Haliloglu 2009:19169842}" "" "458T>C" "" "Germline" "" "" "0" "" "" "g.241742542T>C" "" "pathogenic" "" "0000411519" "3" "55" "2" "242689643" "242689643" "subst" "8.13709E-6" "01815" "D2HGDH_015043" "g.242689643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241750228G>A" "" "VUS" "" "0000411520" "3" "55" "2" "242689643" "242689643" "subst" "8.13709E-6" "01815" "D2HGDH_015043" "g.242689643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241750228G>A" "" "VUS" "" "0000411521" "1" "55" "2" "242689643" "242689643" "subst" "8.13709E-6" "01815" "D2HGDH_015043" "g.242689643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241750228G>A" "" "VUS" "" "0000411522" "1" "55" "2" "242689643" "242689643" "subst" "8.13709E-6" "01815" "D2HGDH_015043" "g.242689643G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241750228G>A" "" "VUS" "" "0000411523" "3" "55" "2" "242681870" "242681870" "subst" "0" "01815" "D2HGDH_015044" "g.242681870T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241742455T>C" "" "VUS" "" "0000411524" "3" "55" "2" "242681870" "242681870" "subst" "0" "01815" "D2HGDH_015044" "g.242681870T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241742455T>C" "" "VUS" "" "0000411525" "1" "55" "2" "242681870" "242681870" "subst" "0" "01815" "D2HGDH_015044" "g.242681870T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241742455T>C" "" "VUS" "" "0000411526" "1" "55" "2" "242681870" "242681870" "subst" "0" "01815" "D2HGDH_015044" "g.242681870T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241742455T>C" "" "VUS" "" "0000411527" "3" "55" "2" "242689709" "242689709" "subst" "0" "01815" "D2HGDH_015045" "g.242689709G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241750294G>A" "" "VUS" "" "0000411528" "3" "55" "2" "242707239" "242707239" "subst" "4.59229E-5" "01815" "D2HGDH_015046" "g.242707239C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241767824C>T" "" "VUS" "" "0000411529" "1" "55" "2" "242683055" "242683055" "subst" "4.09423E-6" "01815" "D2HGDH_015023" "g.242683055C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241743640C>A" "" "VUS" "" "0000411533" "1" "55" "2" "242689709" "242689709" "subst" "0" "01815" "D2HGDH_015045" "g.242689709G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241750294G>A" "" "VUS" "" "0000411534" "1" "55" "2" "242689709" "242689709" "subst" "0" "01815" "D2HGDH_015045" "g.242689709G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241750294G>A" "" "VUS" "" "0000411536" "3" "90" "2" "242684122" "242684122" "subst" "2.43661E-5" "01815" "D2HGDH_015003" "g.242684122A>G" "" "{PMID:Struys 2005:16037974}" "" "IVS5-2A>G" "" "Germline" "" "" "0" "" "" "g.241744707A>G" "" "pathogenic" "" "0000411537" "1" "90" "2" "242683112" "242683112" "subst" "1.22599E-5" "01815" "D2HGDH_015033" "g.242683112C>T" "" "{PMID:Kranendijk 2010:20020533}" "" "566C>T" "" "Germline" "" "" "0" "" "" "g.241743697C>T" "" "pathogenic" "" "0000411540" "2" "90" "2" "242695399" "242695399" "subst" "0.00719287" "01815" "D2HGDH_015020" "g.242695399G>A" "" "{PMID:Kranendijk 2010:20020533}" "" "" "" "Germline" "" "" "0" "" "" "g.241755984G>A" "" "pathogenic" "" "0000515418" "0" "30" "2" "242674864" "242674864" "subst" "0" "01943" "D2HGDH_015055" "g.242674864C>G" "" "" "" "D2HGDH(NM_152783.4):c.225C>G (p.P75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241735449C>G" "" "likely benign" "" "0000515419" "0" "10" "2" "242688292" "242688292" "subst" "0" "02325" "D2HGDH_015056" "g.242688292C>T" "" "" "" "D2HGDH(NM_152783.5):c.854-1274C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241748877C>T" "" "benign" "" "0000515420" "0" "30" "2" "242695399" "242695399" "subst" "0.00719287" "02326" "D2HGDH_015020" "g.242695399G>A" "" "" "" "D2HGDH(NM_152783.4):c.1276G>A (p.A426T), D2HGDH(NM_152783.5):c.1276G>A (p.A426T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241755984G>A" "" "likely benign" "" "0000607857" "0" "50" "2" "242681931" "242681931" "subst" "0" "01943" "D2HGDH_015058" "g.242681931C>G" "" "" "" "D2HGDH(NM_152783.4):c.432C>G (p.D144E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241742516C>G" "" "VUS" "" "0000650525" "1" "50" "2" "242695306" "242695306" "subst" "0.00098815" "03575" "D2HGDH_000007" "g.242695306C>T" "21/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs149628174}" "Germline" "" "rs149628174" "0" "" "" "g.241755891C>T" "" "VUS" "" "0000650526" "1" "70" "2" "242695431" "242695431" "subst" "0" "03575" "D2HGDH_015060" "g.242695431T>C" "3/2749 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs797045507}" "Germline" "" "rs797045507" "0" "" "" "g.241756016T>C" "" "likely pathogenic" "" "0000650527" "1" "30" "2" "242707650" "242707650" "subst" "0" "03575" "D2HGDH_015061" "g.242707650G>A" "17/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs145823152}" "Germline" "" "rs145823152" "0" "" "" "g.241768235G>A" "" "likely benign" "" "0000650528" "1" "30" "2" "242708072" "242708072" "subst" "0" "03575" "D2HGDH_015062" "g.242708072G>A" "70/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "70 heterozygous; {DB:CLININrs6716743}" "Germline" "" "rs6716743" "0" "" "" "g.241768657G>A" "" "likely benign" "" "0000669625" "3" "30" "2" "242708072" "242708072" "subst" "0" "03575" "D2HGDH_015062" "g.242708072G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs6716743}" "Germline" "" "rs6716743" "0" "" "" "g.241768657G>A" "" "likely benign" "" "0000718682" "0" "30" "2" "242695399" "242695399" "subst" "0.00719287" "01943" "D2HGDH_015020" "g.242695399G>A" "" "" "" "D2HGDH(NM_152783.4):c.1276G>A (p.A426T), D2HGDH(NM_152783.5):c.1276G>A (p.A426T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718683" "0" "50" "2" "242707293" "242707293" "subst" "6.14062E-5" "01943" "D2HGDH_015063" "g.242707293C>T" "" "" "" "D2HGDH(NM_152783.4):c.1475C>T (p.P492L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787253" "1" "50" "2" "242689707" "242689707" "subst" "2.0478E-5" "00006" "D2HGDH_015064" "g.242689707A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs779915637" "0" "" "" "g.241750292A>G" "" "VUS" "" "0000787579" "2" "50" "2" "242707229" "242707229" "subst" "0" "00000" "D2HGDH_015065" "g.242707229A>G" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.241767814A>G" "" "VUS" "" "0000858458" "0" "10" "2" "242680425" "242680425" "subst" "0.0142459" "02326" "D2HGDH_015066" "g.242680425A>T" "" "" "" "D2HGDH(NM_152783.5):c.293-23A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858459" "0" "50" "2" "242690658" "242690658" "subst" "6.50068E-5" "01943" "D2HGDH_015067" "g.242690658T>C" "" "" "" "D2HGDH(NM_152783.4):c.998-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911659" "0" "10" "2" "242690745" "242690745" "subst" "0.161544" "02325" "D2HGDH_015068" "g.242690745C>T" "" "" "" "D2HGDH(NM_152783.5):c.1082C>T (p.A361V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975160" "0" "50" "2" "242681880" "242681880" "subst" "4.09205E-6" "01804" "D2HGDH_015011" "g.242681880C>A" "" "" "" "D2HGDH(NM_152783.5):c.381C>A (p.(Asn127Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975161" "0" "50" "2" "242695322" "242695322" "subst" "0.000101699" "01804" "D2HGDH_015069" "g.242695322A>G" "" "" "" "D2HGDH(NM_152783.5):c.1199A>G (p.(Tyr400Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975162" "0" "50" "2" "242707175" "242707175" "subst" "0.000495466" "01804" "D2HGDH_015024" "g.242707175C>T" "" "" "" "D2HGDH(NM_152783.5):c.1357C>T (p.(Leu453Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033200" "0" "90" "2" "242684122" "242684122" "subst" "2.43661E-5" "01804" "D2HGDH_015003" "g.242684122A>G" "" "" "" "D2HGDH(NM_152783.5):c.685-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033201" "0" "50" "2" "242684182" "242684182" "subst" "0" "01804" "D2HGDH_015070" "g.242684182G>A" "" "" "" "D2HGDH(NM_152783.5):c.743G>A (p.(Gly248Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033202" "0" "50" "2" "242689701" "242689701" "subst" "1.63609E-5" "02327" "D2HGDH_015071" "g.242689701C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033203" "0" "50" "2" "242695360" "242695360" "subst" "6.93283E-5" "01804" "D2HGDH_015072" "g.242695360G>A" "" "" "" "D2HGDH(NM_152783.5):c.1237G>A (p.(Asp413Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033204" "0" "50" "2" "242707329" "242707329" "subst" "0" "02327" "D2HGDH_015073" "g.242707329T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes D2HGDH ## Count = 125 "{{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}}" "0000249003" "00006068" "10" "293" "-18" "293" "-18" "c.293-18A>G" "r.(=)" "p.(=)" "" "0000267266" "00006068" "30" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Gly355Ser)" "" "0000267267" "00006068" "10" "685" "-9" "685" "-9" "c.685-9T>C" "r.(=)" "p.(=)" "" "0000267268" "00006068" "10" "854" "-1200" "854" "-1200" "c.854-1200C>T" "r.(=)" "p.(=)" "" "0000274733" "00006068" "30" "423" "0" "423" "0" "c.423C>T" "r.(?)" "p.(Pro141=)" "" "0000328263" "00006068" "50" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Pro3Ser)" "" "0000328265" "00006068" "30" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184Gln)" "" "0000411439" "00006068" "90" "685" "-2" "685" "-2" "c.685-2A>G" "r.spl" "p.?" "5i" "0000411440" "00006068" "90" "685" "-2" "685" "-2" "c.685-2A>G" "r.spl" "p.?" "5i" "0000411441" "00006068" "90" "685" "-2" "685" "-2" "c.685-2A>G" "r.spl" "p.?" "5i" "0000411442" "00006068" "90" "685" "-2" "685" "-2" "c.685-2A>G" "r.spl" "p.?" "5i" "0000411443" "00006068" "90" "1331" "0" "1331" "0" "c.1331T>C" "r.(?)" "p.(Val444Ala)" "10" "0000411444" "00006068" "90" "1331" "0" "1331" "0" "c.1331T>C" "r.(?)" "p.(Val444Ala)" "10" "0000411445" "00006068" "90" "1331" "0" "1331" "0" "c.1331T>C" "r.(?)" "p.(Val444Ala)" "10" "0000411446" "00006068" "90" "325" "0" "326" "0" "c.325_326dup" "r.(?)" "p.(Glu110Argfs*18)" "3" "0000411447" "00006068" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Asp375Tyr)" "8" "0000411448" "00006068" "90" "325" "0" "326" "0" "c.325_326dup" "r.(?)" "p.(Glu110Argfs*18)" "3" "0000411449" "00006068" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Asp375Tyr)" "8" "0000411450" "00006068" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Asp375Tyr)" "8" "0000411451" "00006068" "90" "325" "0" "326" "0" "c.325_326dup" "r.(?)" "p.(Glu110Argfs*18)" "3" "0000411452" "00006068" "90" "326" "0" "326" "0" "c.326C>G" "r.(?)" "p.(Ser109Trp)" "3" "0000411453" "00006068" "90" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Met153Val)" "4" "0000411454" "00006068" "90" "326" "0" "326" "0" "c.326C>G" "r.(?)" "p.(Ser109Trp)" "3" "0000411455" "00006068" "90" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Met153Val)" "4" "0000411456" "00006068" "90" "1315" "0" "1315" "0" "c.1315A>G" "r.(?)" "p.(Asn439Asp)" "10" "0000411457" "00006068" "90" "1315" "0" "1315" "0" "c.1315A>G" "r.(?)" "p.(Asn439Asp)" "10" "0000411458" "00006068" "90" "1315" "0" "1315" "0" "c.1315A>G" "r.(?)" "p.(Asn439Asp)" "10" "0000411459" "00006068" "90" "1315" "0" "1315" "0" "c.1315A>G" "r.(?)" "p.(Asn439Asp)" "10" "0000411460" "00006068" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419His)" "9" "0000411461" "00006068" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419His)" "9" "0000411462" "00006068" "90" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419His)" "9" "0000411463" "00006068" "90" "381" "0" "381" "0" "c.381C>A" "r.(?)" "p.(Asn127Lys)" "4" "0000411464" "00006068" "90" "853" "2" "853" "2" "c.853+2T>C" "r.spl" "p.?" "6i" "0000411465" "00006068" "90" "642" "0" "642" "0" "c.642del" "r.(?)" "p.(Arg215Aspfs*25)" "5" "0000411466" "00006068" "90" "853" "2" "853" "2" "c.853+2T>C" "r.spl" "p.?" "6i" "0000411467" "00006068" "90" "642" "0" "642" "0" "c.642del" "r.(?)" "p.(Arg215Aspfs*25)" "5" "0000411468" "00006068" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169*)" "5" "0000411469" "00006068" "90" "293" "-23" "293" "-23" "c.293-23A>G" "r.spl" "?" "2i" "0000411470" "00006068" "90" "440" "0" "440" "0" "c.440T>G" "r.(?)" "p.(Ile147Ser)" "4" "0000411471" "00006068" "90" "1337" "0" "1337" "0" "c.1337C>T" "r.(?)" "p.(Ala446Val)" "10" "0000411472" "00006068" "90" "392" "0" "392" "0" "c.392G>T" "r.(?)" "p.(Gly131Val)" "4" "0000411473" "00006068" "90" "392" "0" "392" "0" "c.392G>T" "r.(?)" "p.(Gly131Val)" "4" "0000411474" "00006068" "90" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Ala205Val)" "5" "0000411475" "00006068" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "9" "0000411476" "00006068" "90" "1429" "0" "1429" "0" "c.1429G>A" "r.(?)" "p.(Gly477Arg)" "10" "0000411477" "00006068" "90" "1429" "0" "1429" "0" "c.1429G>A" "r.(?)" "p.(Gly477Arg)" "10" "0000411478" "00006068" "90" "1429" "0" "1429" "0" "c.1429G>A" "r.(?)" "p.(Gly477Arg)" "10" "0000411479" "00006068" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Ala231Val)" "6" "0000411480" "00006068" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Ala231Val)" "6" "0000411481" "00006068" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Ala231Val)" "6" "0000411482" "00006068" "55" "509" "0" "509" "0" "c.509C>A" "r.(?)" "p.(Ala170Glu)" "5" "0000411483" "00006068" "55" "1357" "0" "1357" "0" "c.1357C>T" "r.(?)" "p.(Leu453Phe)" "10" "0000411484" "00006068" "55" "1357" "0" "1357" "0" "c.1357C>T" "r.(?)" "p.(Leu453Phe)" "10" "0000411485" "00006068" "55" "1175" "0" "1175" "0" "c.1175C>G" "r.(?)" "p.(Ala392Gly)" "9" "0000411486" "00006068" "90" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Gly233Ser)" "6" "0000411487" "00006068" "90" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Gly233Ser)" "6" "0000411488" "00006068" "90" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Gly233Ser)" "6" "0000411489" "00006068" "90" "1141" "-1" "1567" "0" "c.(1140+1_1141-1)_(*1_?)del" "r.?" "p.(0)" "8i_10_" "0000411490" "00006068" "90" "-92" "-1" "853" "1" "c.(?_-92-1)_(853+1_854-1)del" "r.0?" "p.0?" "_1i_6_" "0000411492" "00006068" "55" "1175" "0" "1175" "0" "c.1175C>G" "r.(?)" "p.(Ala392Gly)" "9" "0000411493" "00006068" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Cys172Tyr)" "5" "0000411494" "00006068" "90" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Val399Met)" "9" "0000411495" "00006068" "90" "1333" "0" "1334" "0" "c.1333_1334del" "r.(?)" "p.(Thr445Glyfs*103)" "10" "0000411496" "00006068" "90" "1333" "0" "1334" "0" "c.1333_1334del" "r.(?)" "p.(Thr445Glyfs*103)" "10" "0000411497" "00006068" "90" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Val399Met)" "9" "0000411498" "00006068" "90" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Pro189Leu)" "5" "0000411499" "00006068" "90" "1333" "0" "1334" "0" "c.1333_1334del" "r.(?)" "p.(Thr445Glyfs*103)" "10" "0000411500" "00006068" "90" "1200" "0" "1200" "0" "c.1200C>A" "r.(?)" "p.(Tyr400*)" "9" "0000411501" "00006068" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "9" "0000411502" "00006068" "90" "1200" "0" "1200" "0" "c.1200C>A" "r.(?)" "p.(Tyr400*)" "9" "0000411503" "00006068" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "9" "0000411504" "00006068" "90" "326" "0" "326" "0" "c.326C>G" "r.(?)" "p.(Ser109Trp)" "3" "0000411505" "00006068" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Cys172Tyr)" "5" "0000411506" "00006068" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Cys172Tyr)" "5" "0000411507" "00006068" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Cys172Tyr)" "5" "0000411508" "00006068" "55" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Ala125Thr)" "4" "0000411509" "00006068" "55" "858" "0" "858" "0" "c.858C>A" "r.(?)" "p.(Cys286*)" "7" "0000411510" "00006068" "55" "506" "0" "506" "0" "c.506A>C" "r.(?)" "p.(Gln169Pro)" "5" "0000411511" "00006068" "55" "599" "0" "599" "0" "c.599T>C" "r.(?)" "p.Ile200Thr" "5" "0000411512" "00006068" "55" "599" "0" "599" "0" "c.599T>C" "r.(?)" "p.Ile200Thr" "5" "0000411513" "00006068" "55" "506" "0" "506" "0" "c.506A>C" "r.(?)" "p.(Gln169Pro)" "5" "0000411514" "00006068" "55" "814" "0" "814" "0" "c.814T>C" "r.(?)" "p.(Cys272Arg)" "6" "0000411515" "00006068" "55" "814" "0" "814" "0" "c.814T>C" "r.(?)" "p.(Cys272Arg)" "6" "0000411516" "00006068" "55" "814" "0" "814" "0" "c.814T>C" "r.(?)" "p.(Cys272Arg)" "6" "0000411518" "00006068" "90" "458" "0" "458" "0" "c.458T>C" "r.(?)" "p.(Met153Thr)" "4" "0000411519" "00006068" "55" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Glu311Lys)" "7" "0000411520" "00006068" "55" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Glu311Lys)" "7" "0000411521" "00006068" "55" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Glu311Lys)" "7" "0000411522" "00006068" "55" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Glu311Lys)" "7" "0000411523" "00006068" "55" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Leu124Pro)" "4" "0000411524" "00006068" "55" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Leu124Pro)" "4" "0000411525" "00006068" "55" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Leu124Pro)" "4" "0000411526" "00006068" "55" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Leu124Pro)" "4" "0000411527" "00006068" "55" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Glu333Lys)" "7" "0000411528" "00006068" "55" "1421" "0" "1421" "0" "c.1421C>T" "r.(?)" "p.(Ala474Val)" "10" "0000411529" "00006068" "55" "509" "0" "509" "0" "c.509C>A" "r.(?)" "p.(Ala170Glu)" "5" "0000411533" "00006068" "55" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Glu333Lys)" "7" "0000411534" "00006068" "55" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Glu333Lys)" "7" "0000411536" "00006068" "90" "685" "-2" "685" "-2" "c.685-2A>G" "r.spl" "p.?" "5i" "0000411537" "00006068" "90" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Pro189Leu)" "5" "0000411540" "00006068" "90" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "9" "0000515418" "00006068" "30" "225" "0" "225" "0" "c.225C>G" "r.(?)" "p.(Pro75=)" "" "0000515419" "00006068" "10" "854" "-1274" "854" "-1274" "c.854-1274C>T" "r.(=)" "p.(=)" "" "0000515420" "00006068" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000607857" "00006068" "50" "432" "0" "432" "0" "c.432C>G" "r.(?)" "p.(Asp144Glu)" "" "0000650525" "00006068" "50" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" "" "0000650526" "00006068" "70" "1306" "2" "1306" "2" "c.1306+2T>C" "r.spl?" "p.?" "" "0000650527" "00006068" "30" "1832" "0" "1832" "0" "c.*266G>A" "r.(=)" "p.(=)" "" "0000650528" "00006068" "30" "2254" "0" "2254" "0" "c.*688G>A" "r.(=)" "p.(=)" "" "0000669625" "00006068" "30" "2254" "0" "2254" "0" "c.*688G>A" "r.(=)" "p.(=)" "" "0000718682" "00006068" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Ala426Thr)" "" "0000718683" "00006068" "50" "1475" "0" "1475" "0" "c.1475C>T" "r.(?)" "p.(Pro492Leu)" "" "0000787253" "00006068" "50" "995" "0" "995" "0" "c.995A>G" "r.(?)" "p.(Gln332Arg)" "7" "0000787579" "00006068" "50" "1411" "0" "1411" "0" "c.1411A>G" "r.(?)" "p.(Ser471Gly)" "10" "0000858458" "00006068" "10" "293" "-23" "293" "-23" "c.293-23A>T" "r.(=)" "p.(=)" "" "0000858459" "00006068" "50" "998" "-3" "998" "-3" "c.998-3T>C" "r.spl?" "p.?" "" "0000911659" "00006068" "10" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Ala361Val)" "" "0000975160" "00006068" "50" "381" "0" "381" "0" "c.381C>A" "r.(?)" "p.(Asn127Lys)" "" "0000975161" "00006068" "50" "1199" "0" "1199" "0" "c.1199A>G" "r.(?)" "p.(Tyr400Cys)" "" "0000975162" "00006068" "50" "1357" "0" "1357" "0" "c.1357C>T" "r.(?)" "p.(Leu453Phe)" "" "0001033200" "00006068" "90" "685" "-2" "685" "-2" "c.685-2A>G" "r.spl?" "p.?" "" "0001033201" "00006068" "50" "743" "0" "743" "0" "c.743G>A" "r.(?)" "p.(Gly248Asp)" "" "0001033202" "00006068" "50" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Pro330Leu)" "" "0001033203" "00006068" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Asp413Asn)" "" "0001033204" "00006068" "50" "1511" "0" "1511" "0" "c.1511T>C" "r.(?)" "p.(Leu504Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 100 "{{screeningid}}" "{{variantid}}" "0000185796" "0000411439" "0000185797" "0000411440" "0000185798" "0000411441" "0000185799" "0000411442" "0000185800" "0000411443" "0000185801" "0000411444" "0000185802" "0000411445" "0000185803" "0000411446" "0000185803" "0000411447" "0000185804" "0000411448" "0000185804" "0000411449" "0000185805" "0000411450" "0000185806" "0000411451" "0000185807" "0000411452" "0000185807" "0000411453" "0000185808" "0000411454" "0000185809" "0000411455" "0000185810" "0000411456" "0000185811" "0000411457" "0000185812" "0000411458" "0000185813" "0000411459" "0000185814" "0000411460" "0000185815" "0000411461" "0000185816" "0000411462" "0000185817" "0000411463" "0000185818" "0000411464" "0000185818" "0000411465" "0000185819" "0000411466" "0000185820" "0000411467" "0000185821" "0000411468" "0000185822" "0000411469" "0000185822" "0000411470" "0000185823" "0000411471" "0000185824" "0000411472" "0000185825" "0000411473" "0000185826" "0000411474" "0000185826" "0000411475" "0000185827" "0000411476" "0000185828" "0000411477" "0000185829" "0000411478" "0000185830" "0000411479" "0000185831" "0000411480" "0000185832" "0000411481" "0000185833" "0000411482" "0000185834" "0000411483" "0000185835" "0000411484" "0000185836" "0000411485" "0000185837" "0000411486" "0000185838" "0000411487" "0000185839" "0000411488" "0000185840" "0000411489" "0000185841" "0000411490" "0000185843" "0000411492" "0000185844" "0000411493" "0000185845" "0000411494" "0000185845" "0000411495" "0000185846" "0000411496" "0000185847" "0000411497" "0000185848" "0000411498" "0000185849" "0000411499" "0000185850" "0000411500" "0000185850" "0000411501" "0000185851" "0000411502" "0000185852" "0000411503" "0000185853" "0000411504" "0000185854" "0000411505" "0000185855" "0000411506" "0000185856" "0000411507" "0000185857" "0000411508" "0000185857" "0000411509" "0000185858" "0000411510" "0000185858" "0000411511" "0000185859" "0000411512" "0000185860" "0000411513" "0000185861" "0000411514" "0000185862" "0000411515" "0000185863" "0000411516" "0000185865" "0000411518" "0000185866" "0000411519" "0000185867" "0000411520" "0000185868" "0000411521" "0000185869" "0000411522" "0000185870" "0000411523" "0000185871" "0000411524" "0000185872" "0000411525" "0000185873" "0000411526" "0000185874" "0000411527" "0000185875" "0000411528" "0000185876" "0000411529" "0000185880" "0000411533" "0000185881" "0000411534" "0000185883" "0000411536" "0000185884" "0000411537" "0000293836" "0000650525" "0000293837" "0000650526" "0000293838" "0000650527" "0000293839" "0000650528" "0000305937" "0000669625" "0000375902" "0000787253" "0000375902" "0000787579"