### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALDH7A1) # 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}}" "ALDH7A1" "aldehyde dehydrogenase 7 family, member A1" "5" "q31" "unknown" "NG_008600.2" "UD_132118913556" "" "http://www.LOVD.nl/ALDH7A1" "" "1" "877" "501" "107323" "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/ALDH7A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-26 16:50:58" "00000" "2025-11-01 13:22:20" ## 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}}" "00002360" "ALDH7A1" "transcript variant 1" "002" "NM_001182.4" "" "NP_001173.2" "" "" "" "-192" "4744" "1620" "125931082" "125877533" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "00343" "EPD" "epilepsy, pyridoxine-dependent (EPD)" "AR" "266100" "" "" "" "00006" "2014-03-12 21:19:49" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "06783" "EPVB6D" "Epilepsy, early-onset, vitamin B6-dependent" "AR" "617290" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ALDH7A1" "00343" ## Individuals ## Do not remove or alter this header ## ## Count = 209 "{{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}}" "00016318" "" "" "" "1" "" "00681" "" "" "F" "no" "Italy" "" "0" "" "" "" "" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00079991" "" "" "" "1" "" "01745" "" "" "F" "no" "Syria" "" "0" "" "" "white" "" "00080902" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080984" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00150139" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB3514" "00155229" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29311637-Fam3" "00180170" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat22" "00180171" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat23" "00239790" "" "" "" "1" "" "03250" "" "" "M" "" "Argentina" "" "0" "" "" "" "" "00244877" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-1" "00244878" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-2" "00244879" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-3" "00244880" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-4" "00244881" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-5" "00244882" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-6" "00244883" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-7" "00244884" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-8" "00244885" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-9" "00244886" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-10" "00244887" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-11" "00244888" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-12" "00244889" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-13" "00244890" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-14" "00244891" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-15" "00244892" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-16" "00244893" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-17" "00244894" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-18" "00244895" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-19" "00244896" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-20" "00244897" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-21" "00244898" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-22" "00244899" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-23" "00244900" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-24" "00244901" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-25" "00244902" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-26" "00244903" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-27" "00244904" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-28" "00244905" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-29" "00244906" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-30" "00244907" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-31" "00244908" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-32" "00244909" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-33" "00244910" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-34" "00244911" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-35" "00244912" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-36" "00244913" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-37" "00244914" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-38" "00244915" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-39" "00244916" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-40" "00244917" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-41" "00244918" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-42" "00244919" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-43" "00244920" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-44" "00244921" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-45" "00244922" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-46" "00244923" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-47" "00244924" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-48" "00244925" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-49" "00244926" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-50" "00244927" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-51" "00244928" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-52" "00244929" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-53" "00244930" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-54" "00244931" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-55" "00244932" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-56" "00244933" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-57" "00244934" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-58" "00244935" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-59" "00244936" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-60" "00244937" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-61" "00244938" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-62" "00244939" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-63" "00244940" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-64" "00244941" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-65" "00244942" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-66" "00244943" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-67" "00244944" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-68" "00244945" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-69" "00244946" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-70" "00244947" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-71" "00244948" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-72" "00244949" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-73" "00244950" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-74" "00244951" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-75" "00244952" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-76" "00244953" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-77" "00244954" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-78" "00244955" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-79" "00244956" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-80" "00244957" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-81" "00244958" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-82" "00244959" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-83" "00244960" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-84" "00244961" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-85" "00244962" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-86" "00244963" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-87" "00244964" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-88" "00244965" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-89" "00244966" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-90" "00244967" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-91" "00244968" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-92" "00244969" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-93" "00244970" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-94" "00244971" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-95" "00244972" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-96" "00244973" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-97" "00244974" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-98" "00244975" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-99" "00244976" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-100" "00244977" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-101" "00244978" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-102" "00244979" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-103" "00244980" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-104" "00244981" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-105" "00244982" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-106" "00244983" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-107" "00244984" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-108" "00244985" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-109" "00244986" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-110" "00244987" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-111" "00244988" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-112" "00244989" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-113" "00244990" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-114" "00244991" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-115" "00244992" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-116" "00244993" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-117" "00244994" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-118" "00244995" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-119" "00244996" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-120" "00244997" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-121" "00244998" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-122" "00244999" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-123" "00245000" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-124" "00245001" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-125" "00245002" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-126" "00245003" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-127" "00245004" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-128" "00245005" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-129" "00245006" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-130" "00245007" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-131" "00245008" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-132" "00245009" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-133" "00245010" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-134" "00245011" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-135" "00245012" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-136" "00245013" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-137" "00245014" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-138" "00245015" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-139" "00245016" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-140" "00245017" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-141" "00245018" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-142" "00245019" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-143" "00245020" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-144" "00245021" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-145" "00245022" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-146" "00245023" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-147" "00245024" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-148" "00245025" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-149" "00245026" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-150" "00245027" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-151" "00245028" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-152" "00245029" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-153" "00245030" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-154" "00245031" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-155" "00245032" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-156" "00245033" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-157" "00245034" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-158" "00245035" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-159" "00245036" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-160" "00245037" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-161" "00245038" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-162" "00245039" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-163" "00245040" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-164" "00245041" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-165" "00245042" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-166" "00245043" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-167" "00245044" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-168" "00245045" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-169" "00245046" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-170" "00245047" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-171" "00245048" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-172" "00245049" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-173" "00245050" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-174" "00245051" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-175" "00245052" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-176" "00245053" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-177" "00245054" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-178" "00245055" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-179" "00245056" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-180" "00245057" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-181" "00245058" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-182" "00245059" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-183" "00245060" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-184" "00245061" "" "" "" "1" "" "01682" "{PMID:Coughlin 2019:30043187}" "" "" "" "" "" "0" "" "" "" "PDE-185" "00293707" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293708" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293709" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374185" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4199" "00374186" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2952" "00374596" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5097" "00374597" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3889" "00374653" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3650" "00414423" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "?" "" "China" "" "0" "" "" "" "WHP90" "00430715" "" "" "" "1" "" "03312" "" "" "" "yes" "Pakistan" "" "" "" "" "" "" "00431869" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y02m" "" "" "" "Europe" "SIDS030" "00438364" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat82" "00464345" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00464346" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 209 "{{individualid}}" "{{diseaseid}}" "00016318" "00343" "00050575" "00198" "00079991" "00343" "00080902" "00343" "00080984" "00343" "00150139" "00198" "00155229" "00259" "00180170" "00198" "00180171" "00198" "00239790" "04270" "00244877" "00343" "00244878" "00343" "00244879" "00343" "00244880" "00343" "00244881" "00343" "00244882" "00343" "00244883" "00343" "00244884" "00343" "00244885" "00343" "00244886" "00343" "00244887" "00343" "00244888" "00343" "00244889" "00343" "00244890" "00343" "00244891" "00343" "00244892" "00343" "00244893" "00343" "00244894" "00343" "00244895" "00343" "00244896" "00343" "00244897" "00343" "00244898" "00343" "00244899" "00343" "00244900" "00343" "00244901" "00343" "00244902" "00343" "00244903" "00343" "00244904" "00343" "00244905" "00343" "00244906" "00343" "00244907" "00343" "00244908" "00343" "00244909" "00343" "00244910" "00343" "00244911" "00343" "00244912" "00343" "00244913" "00343" "00244914" "00343" "00244915" "00343" "00244916" "00343" "00244917" "00343" "00244918" "00343" "00244919" "00343" "00244920" "00343" "00244921" "00343" "00244922" "00343" "00244923" "00343" "00244924" "00343" "00244925" "00343" "00244926" "00343" "00244927" "00343" "00244928" "00343" "00244929" "00343" "00244930" "00343" "00244931" "00343" "00244932" "00343" "00244933" "00343" "00244934" "00343" "00244935" "00343" "00244936" "00343" "00244937" "00343" "00244938" "00343" "00244939" "00343" "00244940" "00343" "00244941" "00343" "00244942" "00343" "00244943" "00343" "00244944" "00343" "00244945" "00343" "00244946" "00343" "00244947" "00343" "00244948" "00343" "00244949" "00343" "00244950" "00343" "00244951" "00343" "00244952" "00343" "00244953" "00343" "00244954" "00343" "00244955" "00343" "00244956" "00343" "00244957" "00343" "00244958" "00343" "00244959" "00343" "00244960" "00343" "00244961" "00343" "00244962" "00343" "00244963" "00343" "00244964" "00343" "00244965" "00343" "00244966" "00343" "00244967" "00343" "00244968" "00343" "00244969" "00343" "00244970" "00343" "00244971" "00343" "00244972" "00343" "00244973" "00343" "00244974" "00343" "00244975" "00343" "00244976" "00343" "00244977" "00343" "00244978" "00343" "00244979" "00343" "00244980" "00343" "00244981" "00343" "00244982" "00343" "00244983" "00343" "00244984" "00343" "00244985" "00343" "00244986" "00343" "00244987" "00343" "00244988" "00343" "00244989" "00343" "00244990" "00343" "00244991" "00343" "00244992" "00343" "00244993" "00343" "00244994" "00343" "00244995" "00343" "00244996" "00343" "00244997" "00343" "00244998" "00343" "00244999" "00343" "00245000" "00343" "00245001" "00343" "00245002" "00343" "00245003" "00343" "00245004" "00343" "00245005" "00343" "00245006" "00343" "00245007" "00343" "00245008" "00343" "00245009" "00343" "00245010" "00343" "00245011" "00343" "00245012" "00343" "00245013" "00343" "00245014" "00343" "00245015" "00343" "00245016" "00343" "00245017" "00343" "00245018" "00343" "00245019" "00343" "00245020" "00343" "00245021" "00343" "00245022" "00343" "00245023" "00343" "00245024" "00343" "00245025" "00343" "00245026" "00343" "00245027" "00343" "00245028" "00343" "00245029" "00343" "00245030" "00343" "00245031" "00343" "00245032" "00343" "00245033" "00343" "00245034" "00343" "00245035" "00343" "00245036" "00343" "00245037" "00343" "00245038" "00343" "00245039" "00343" "00245040" "00343" "00245041" "00343" "00245042" "00343" "00245043" "00343" "00245044" "00343" "00245045" "00343" "00245046" "00343" "00245047" "00343" "00245048" "00343" "00245049" "00343" "00245050" "00343" "00245051" "00343" "00245052" "00343" "00245053" "00343" "00245054" "00343" "00245055" "00343" "00245056" "00343" "00245057" "00343" "00245058" "00343" "00245059" "00343" "00245060" "00343" "00245061" "00343" "00293707" "00198" "00293708" "00198" "00293709" "00198" "00374185" "00198" "00374186" "00198" "00374596" "00198" "00374597" "00198" "00374653" "00198" "00414423" "00198" "00430715" "00343" "00431869" "02087" "00438364" "04270" "00464345" "06783" "00464346" "06783" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00259, 00343, 02087, 04270, 06783 ## Count = 203 "{{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}}" "0000014923" "00343" "00016318" "00681" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000060471" "00343" "00080902" "01758" "Familial, autosomal recessive" "" "Epilepsy, pyridoxine-dependent (OMIM:266100)" "" "" "" "" "" "" "" "" "" "" "" "0000060553" "00343" "00080984" "01758" "Familial, autosomal recessive" "" "Epilepsy, pyridoxine-dependent (OMIM:266100)" "" "" "" "" "" "" "" "" "" "" "" "0000104269" "00343" "00079991" "01745" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000122541" "00198" "00150139" "00006" "Familial, autosomal recessive" "" "intellectual diability, epilepsy, MRI normal" "" "" "" "" "" "" "" "" "" "" "" "0000127757" "00259" "00155229" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity" "" "" "" "" "" "" "" "" "" "obesity" "" "0000142624" "00198" "00180170" "00006" "Familial, autosomal recessive" "" "(Severe pharmacoresistant) epileptic encephalopathy (HP:0200134), global developmental delay (HP:0001263). Head CT: global brain atrophy (HP:0002283)." "" "" "" "" "" "" "" "" "EPD" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000142625" "00198" "00180171" "00006" "Familial, autosomal recessive" "" "Seizures (neonatal, from second week) (HP:0001250), (good response to pyridoxine treatment)." "" "" "" "" "" "" "" "" "EPD" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000180000" "04270" "00239790" "03250" "Unknown" "00y10m" "persistent crisis of atipical febrile seizures" "" "" "" "" "" "" "" "" "" "" "" "0000184839" "00343" "00244877" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184840" "00343" "00244878" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184841" "00343" "00244879" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184842" "00343" "00244880" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184843" "00343" "00244881" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184844" "00343" "00244882" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184845" "00343" "00244883" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184846" "00343" "00244884" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184847" "00343" "00244885" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184848" "00343" "00244886" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184849" "00343" "00244887" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184850" "00343" "00244888" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184851" "00343" "00244889" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184852" "00343" "00244890" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184853" "00343" "00244891" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184854" "00343" "00244892" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184855" "00343" "00244893" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184856" "00343" "00244894" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184857" "00343" "00244895" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184858" "00343" "00244896" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184859" "00343" "00244897" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184860" "00343" "00244898" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184861" "00343" "00244899" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184862" "00343" "00244900" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184863" "00343" "00244901" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184864" "00343" "00244902" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184865" "00343" "00244903" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184866" "00343" "00244904" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184867" "00343" "00244905" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184868" "00343" "00244906" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184869" "00343" "00244907" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184870" "00343" "00244908" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184871" "00343" "00244909" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184872" "00343" "00244910" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184873" "00343" "00244911" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184874" "00343" "00244912" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184875" "00343" "00244913" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184876" "00343" "00244914" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184877" "00343" "00244915" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184878" "00343" "00244916" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184879" "00343" "00244917" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184880" "00343" "00244918" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184881" "00343" "00244919" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184882" "00343" "00244920" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184883" "00343" "00244921" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184884" "00343" "00244922" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184885" "00343" "00244923" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184886" "00343" "00244924" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184887" "00343" "00244925" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184888" "00343" "00244926" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184889" "00343" "00244927" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184890" "00343" "00244928" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184891" "00343" "00244929" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184892" "00343" "00244930" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184893" "00343" "00244931" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184894" "00343" "00244932" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184895" "00343" "00244933" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184896" "00343" "00244934" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184897" "00343" "00244935" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184898" "00343" "00244936" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184899" "00343" "00244937" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184900" "00343" "00244938" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184901" "00343" "00244939" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184902" "00343" "00244940" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184903" "00343" "00244941" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184904" "00343" "00244942" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184905" "00343" "00244943" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184906" "00343" "00244944" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184907" "00343" "00244945" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184908" "00343" "00244946" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184909" "00343" "00244947" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184910" "00343" "00244948" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184911" "00343" "00244949" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184912" "00343" "00244950" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184913" "00343" "00244951" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184914" "00343" "00244952" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184915" "00343" "00244953" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184916" "00343" "00244954" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184917" "00343" "00244955" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184918" "00343" "00244956" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184919" "00343" "00244957" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184920" "00343" "00244958" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184921" "00343" "00244959" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184922" "00343" "00244960" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184923" "00343" "00244961" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184924" "00343" "00244962" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184925" "00343" "00244963" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184926" "00343" "00244964" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184927" "00343" "00244965" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184928" "00343" "00244966" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184929" "00343" "00244967" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184930" "00343" "00244968" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184931" "00343" "00244969" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184932" "00343" "00244970" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184933" "00343" "00244971" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184934" "00343" "00244972" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184935" "00343" "00244973" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184936" "00343" "00244974" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184937" "00343" "00244975" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184938" "00343" "00244976" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184939" "00343" "00244977" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184940" "00343" "00244978" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184941" "00343" "00244979" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184942" "00343" "00244980" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184943" "00343" "00244981" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184944" "00343" "00244982" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184945" "00343" "00244983" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184946" "00343" "00244984" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184947" "00343" "00244985" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184948" "00343" "00244986" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184949" "00343" "00244987" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184950" "00343" "00244988" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184951" "00343" "00244989" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184952" "00343" "00244990" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184953" "00343" "00244991" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184954" "00343" "00244992" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184955" "00343" "00244993" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184956" "00343" "00244994" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184957" "00343" "00244995" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184958" "00343" "00244996" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184959" "00343" "00244997" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184960" "00343" "00244998" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184961" "00343" "00244999" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184962" "00343" "00245000" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184963" "00343" "00245001" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184964" "00343" "00245002" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184965" "00343" "00245003" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184966" "00343" "00245004" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184967" "00343" "00245005" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184968" "00343" "00245006" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184969" "00343" "00245007" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184970" "00343" "00245008" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184971" "00343" "00245009" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184972" "00343" "00245010" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184973" "00343" "00245011" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184974" "00343" "00245012" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184975" "00343" "00245013" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184976" "00343" "00245014" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184977" "00343" "00245015" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184978" "00343" "00245016" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184979" "00343" "00245017" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184980" "00343" "00245018" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184981" "00343" "00245019" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184982" "00343" "00245020" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184983" "00343" "00245021" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184984" "00343" "00245022" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184985" "00343" "00245023" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184986" "00343" "00245024" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184987" "00343" "00245025" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184988" "00343" "00245026" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184989" "00343" "00245027" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184990" "00343" "00245028" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184991" "00343" "00245029" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184992" "00343" "00245030" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184993" "00343" "00245031" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184994" "00343" "00245032" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184995" "00343" "00245033" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184996" "00343" "00245034" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184997" "00343" "00245035" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184998" "00343" "00245036" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000184999" "00343" "00245037" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185000" "00343" "00245038" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185001" "00343" "00245039" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185002" "00343" "00245040" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185003" "00343" "00245041" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185004" "00343" "00245042" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185005" "00343" "00245043" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185006" "00343" "00245044" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185007" "00343" "00245045" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185008" "00343" "00245046" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185009" "00343" "00245047" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185010" "00343" "00245048" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185011" "00343" "00245049" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185012" "00343" "00245050" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185013" "00343" "00245051" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185014" "00343" "00245052" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185015" "00343" "00245053" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185016" "00343" "00245054" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185017" "00343" "00245055" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185018" "00343" "00245056" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185019" "00343" "00245057" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185020" "00343" "00245058" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185021" "00343" "00245059" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185022" "00343" "00245060" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000185023" "00343" "00245061" "01682" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PDE" "pyridoxine-dependent epilepsy" "" "0000269395" "00198" "00374185" "00006" "Familial, autosomal recessive" "" "Seizures" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269396" "00198" "00374186" "00006" "Familial, autosomal recessive" "" "Epilepsy" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269806" "00198" "00374596" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269807" "00198" "00374597" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269863" "00198" "00374653" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000306258" "00198" "00414423" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Pyridoxine-Dependent Epilepsy" "" "" "0000322437" "02087" "00431869" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000328268" "04270" "00438364" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0001742 nasal obstruction; HP:0002353 eeg abnormality; HP:0001945 fever; HP:0100512 vitamin d deficiency" "1y" "" "" "" "" "" "" "" "" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 209 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016247" "00016318" "1" "00681" "00681" "2014-03-12 11:42:55" "00006" "2014-03-12 21:21:25" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080070" "00079991" "1" "01745" "01745" "2016-08-31 11:57:19" "" "" "SEQ" "DNA" "blood" "" "0000081014" "00080902" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081096" "00080984" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000150994" "00150139" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000156093" "00155229" "1" "00006" "00006" "2018-03-18 13:11:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000181073" "00180170" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000181074" "00180171" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000240893" "00239790" "1" "03250" "03250" "2019-06-09 21:53:20" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000245989" "00244877" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000245990" "00244878" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000245991" "00244879" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000245992" "00244880" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000245993" "00244881" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000245994" "00244882" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000245995" "00244883" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000245996" "00244884" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000245997" "00244885" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000245998" "00244886" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000245999" "00244887" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246000" "00244888" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246001" "00244889" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246002" "00244890" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246003" "00244891" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246004" "00244892" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246005" "00244893" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246006" "00244894" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246007" "00244895" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246008" "00244896" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246009" "00244897" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246010" "00244898" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246011" "00244899" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246012" "00244900" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246013" "00244901" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246014" "00244902" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246015" "00244903" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246016" "00244904" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246017" "00244905" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246018" "00244906" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246019" "00244907" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246020" "00244908" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246021" "00244909" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246022" "00244910" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246023" "00244911" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246024" "00244912" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246025" "00244913" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246026" "00244914" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246027" "00244915" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246028" "00244916" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246029" "00244917" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246030" "00244918" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246031" "00244919" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" 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"" "0000246043" "00244931" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246044" "00244932" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246045" "00244933" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246046" "00244934" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246047" "00244935" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246048" "00244936" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246049" "00244937" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246050" "00244938" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246051" "00244939" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246052" "00244940" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246053" "00244941" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" 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"0000246076" "00244964" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246077" "00244965" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246078" "00244966" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246079" "00244967" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246080" "00244968" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246081" "00244969" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246082" "00244970" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246083" "00244971" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246084" "00244972" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246085" "00244973" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246086" "00244974" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246087" "00244975" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246088" "00244976" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246089" "00244977" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246090" "00244978" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246091" "00244979" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246092" "00244980" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246093" "00244981" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246094" "00244982" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246095" "00244983" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246096" "00244984" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246097" "00244985" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246098" "00244986" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246099" "00244987" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246100" "00244988" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246101" "00244989" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246102" "00244990" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246103" "00244991" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246104" "00244992" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246105" "00244993" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246106" "00244994" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246107" "00244995" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246108" "00244996" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246109" "00244997" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246110" "00244998" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246111" "00244999" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246112" "00245000" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246113" "00245001" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246114" "00245002" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246115" "00245003" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246116" "00245004" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246117" "00245005" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246118" "00245006" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246119" "00245007" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246120" "00245008" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246121" "00245009" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246122" "00245010" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246123" "00245011" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246124" "00245012" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246125" "00245013" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246126" "00245014" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246127" "00245015" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246128" "00245016" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246129" "00245017" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246130" "00245018" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246131" "00245019" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246132" "00245020" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246133" "00245021" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246134" "00245022" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246135" "00245023" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246136" "00245024" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246137" "00245025" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246138" "00245026" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246139" "00245027" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246140" "00245028" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246141" "00245029" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246142" "00245030" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246143" "00245031" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246144" "00245032" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246145" "00245033" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246146" "00245034" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246147" "00245035" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246148" "00245036" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246149" "00245037" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246150" "00245038" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246151" "00245039" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246152" "00245040" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246153" "00245041" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246154" "00245042" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246155" "00245043" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246156" "00245044" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246157" "00245045" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246158" "00245046" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246159" "00245047" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246160" "00245048" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246161" "00245049" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246162" "00245050" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246163" "00245051" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246164" "00245052" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246165" "00245053" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246166" "00245054" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246167" "00245055" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246168" "00245056" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246169" "00245057" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246170" "00245058" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246171" "00245059" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246172" "00245060" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000246173" "00245061" "1" "01682" "00006" "2019-06-11 17:50:42" "" "" "SEQ" "DNA" "" "" "0000294875" "00293707" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294876" "00293708" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294877" "00293709" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375379" "00374185" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375380" "00374186" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375790" "00374596" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375791" "00374597" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375847" "00374653" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000415703" "00414423" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000432126" "00430715" "1" "03312" "03312" "2023-01-23 06:36:57" "" "" "SEQ-NG-I" "RNA" "" "" "0000433307" "00431869" "1" "01602" "01602" "2023-02-17 14:10:02" "" "" "SEQ-NG" "DNA" "" "" "0000439846" "00438364" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000465975" "00464345" "1" "04459" "04459" "2025-03-06 07:09:18" "" "" "SEQ-NG" "DNA" "" "" "0000465976" "00464346" "1" "04459" "04459" "2025-03-06 07:21:52" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 201 "{{screeningid}}" "{{geneid}}" "0000016247" "ALDH7A1" "0000080070" "ALDH7A1" "0000081014" "ALDH7A1" "0000081096" "ALDH7A1" "0000150994" "ALDH7A1" "0000181073" "ALDH7A1" "0000181074" "ALDH7A1" "0000245989" "ALDH7A1" "0000245990" "ALDH7A1" "0000245991" "ALDH7A1" "0000245992" "ALDH7A1" "0000245993" "ALDH7A1" "0000245994" "ALDH7A1" "0000245995" "ALDH7A1" "0000245996" "ALDH7A1" "0000245997" "ALDH7A1" "0000245998" "ALDH7A1" "0000245999" "ALDH7A1" "0000246000" "ALDH7A1" "0000246001" "ALDH7A1" "0000246002" "ALDH7A1" "0000246003" "ALDH7A1" "0000246004" "ALDH7A1" "0000246005" "ALDH7A1" "0000246006" "ALDH7A1" "0000246007" "ALDH7A1" "0000246008" "ALDH7A1" "0000246009" "ALDH7A1" "0000246010" "ALDH7A1" "0000246011" "ALDH7A1" "0000246012" "ALDH7A1" "0000246013" "ALDH7A1" "0000246014" "ALDH7A1" "0000246015" "ALDH7A1" "0000246016" "ALDH7A1" "0000246017" "ALDH7A1" "0000246018" "ALDH7A1" "0000246019" "ALDH7A1" "0000246020" "ALDH7A1" "0000246021" "ALDH7A1" "0000246022" "ALDH7A1" "0000246023" "ALDH7A1" "0000246024" "ALDH7A1" "0000246025" "ALDH7A1" "0000246026" "ALDH7A1" "0000246027" "ALDH7A1" "0000246028" "ALDH7A1" "0000246029" "ALDH7A1" "0000246030" "ALDH7A1" "0000246031" "ALDH7A1" "0000246032" "ALDH7A1" "0000246033" "ALDH7A1" "0000246034" "ALDH7A1" "0000246035" "ALDH7A1" "0000246036" "ALDH7A1" "0000246037" "ALDH7A1" "0000246038" "ALDH7A1" "0000246039" "ALDH7A1" "0000246040" "ALDH7A1" "0000246041" "ALDH7A1" "0000246042" "ALDH7A1" "0000246043" "ALDH7A1" "0000246044" "ALDH7A1" "0000246045" "ALDH7A1" "0000246046" "ALDH7A1" "0000246047" "ALDH7A1" "0000246048" "ALDH7A1" "0000246049" "ALDH7A1" "0000246050" "ALDH7A1" "0000246051" "ALDH7A1" "0000246052" "ALDH7A1" "0000246053" "ALDH7A1" "0000246054" "ALDH7A1" "0000246055" "ALDH7A1" "0000246056" "ALDH7A1" "0000246057" "ALDH7A1" "0000246058" "ALDH7A1" "0000246059" "ALDH7A1" "0000246060" "ALDH7A1" "0000246061" "ALDH7A1" "0000246062" "ALDH7A1" "0000246063" "ALDH7A1" "0000246064" "ALDH7A1" "0000246065" "ALDH7A1" "0000246066" "ALDH7A1" "0000246067" "ALDH7A1" "0000246068" "ALDH7A1" "0000246069" "ALDH7A1" "0000246070" "ALDH7A1" "0000246071" "ALDH7A1" "0000246072" "ALDH7A1" "0000246073" "ALDH7A1" "0000246074" "ALDH7A1" "0000246075" "ALDH7A1" "0000246076" "ALDH7A1" "0000246077" "ALDH7A1" "0000246078" "ALDH7A1" "0000246079" "ALDH7A1" "0000246080" "ALDH7A1" "0000246081" "ALDH7A1" "0000246082" "ALDH7A1" "0000246083" "ALDH7A1" "0000246084" "ALDH7A1" "0000246085" "ALDH7A1" "0000246086" "ALDH7A1" "0000246087" "ALDH7A1" "0000246088" "ALDH7A1" "0000246089" "ALDH7A1" "0000246090" "ALDH7A1" "0000246091" "ALDH7A1" "0000246092" "ALDH7A1" "0000246093" "ALDH7A1" "0000246094" "ALDH7A1" "0000246095" "ALDH7A1" "0000246096" "ALDH7A1" "0000246097" "ALDH7A1" "0000246098" "ALDH7A1" "0000246099" "ALDH7A1" "0000246100" "ALDH7A1" "0000246101" "ALDH7A1" "0000246102" "ALDH7A1" "0000246103" "ALDH7A1" "0000246104" "ALDH7A1" "0000246105" "ALDH7A1" "0000246106" "ALDH7A1" "0000246107" "ALDH7A1" "0000246108" "ALDH7A1" "0000246109" "ALDH7A1" "0000246110" "ALDH7A1" "0000246111" "ALDH7A1" "0000246112" "ALDH7A1" "0000246113" "ALDH7A1" "0000246114" "ALDH7A1" "0000246115" "ALDH7A1" "0000246116" "ALDH7A1" "0000246117" "ALDH7A1" "0000246118" "ALDH7A1" "0000246119" "ALDH7A1" "0000246120" "ALDH7A1" "0000246121" "ALDH7A1" "0000246122" "ALDH7A1" "0000246123" "ALDH7A1" "0000246124" "ALDH7A1" "0000246125" "ALDH7A1" "0000246126" "ALDH7A1" "0000246127" "ALDH7A1" "0000246128" "ALDH7A1" "0000246129" "ALDH7A1" "0000246130" "ALDH7A1" "0000246131" "ALDH7A1" "0000246132" "ALDH7A1" "0000246133" "ALDH7A1" "0000246134" "ALDH7A1" "0000246135" "ALDH7A1" "0000246136" "ALDH7A1" "0000246137" "ALDH7A1" "0000246138" "ALDH7A1" "0000246139" "ALDH7A1" "0000246140" "ALDH7A1" "0000246141" "ALDH7A1" "0000246142" "ALDH7A1" "0000246143" "ALDH7A1" "0000246144" "ALDH7A1" "0000246145" "ALDH7A1" "0000246146" "ALDH7A1" "0000246147" "ALDH7A1" "0000246148" "ALDH7A1" "0000246149" "ALDH7A1" "0000246150" "ALDH7A1" "0000246151" "ALDH7A1" "0000246152" "ALDH7A1" "0000246153" "ALDH7A1" "0000246154" "ALDH7A1" "0000246155" "ALDH7A1" "0000246156" "ALDH7A1" "0000246157" "ALDH7A1" "0000246158" "ALDH7A1" "0000246159" "ALDH7A1" "0000246160" "ALDH7A1" "0000246161" "ALDH7A1" "0000246162" "ALDH7A1" "0000246163" "ALDH7A1" "0000246164" "ALDH7A1" "0000246165" "ALDH7A1" "0000246166" "ALDH7A1" "0000246167" "ALDH7A1" "0000246168" "ALDH7A1" "0000246169" "ALDH7A1" "0000246170" "ALDH7A1" "0000246171" "ALDH7A1" "0000246172" "ALDH7A1" "0000246173" "ALDH7A1" "0000375379" "ALDH7A1" "0000375380" "ALDH7A1" "0000375790" "ALDH7A1" "0000375791" "ALDH7A1" "0000375847" "ALDH7A1" "0000415703" "ALDH7A1" "0000432126" "ALDH7A1" "0000465975" "ALDH7A1" "0000465976" "ALDH7A1" ## 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 = 447 "{{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}}" "0000035985" "11" "75" "5" "125912837" "125912837" "subst" "2.43635E-5" "00681" "ALDH7A1_000002" "g.125912837T>C" "" "{PMID:Della Mina et al 2014:Submitted}" "" "" "" "Germline" "yes" "" "0" "" "" "g.126577145T>C" "" "likely pathogenic" "" "0000035986" "21" "35" "5" "125885616" "125885616" "subst" "2.03138E-5" "00681" "ALDH7A1_000001" "g.125885616C>T" "" "{PMID:Della Mina et al 2014: Submitted}" "" "" "" "Germline" "yes" "" "0" "" "" "g.126549924C>T" "" "likely benign" "" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000128947" "21" "70" "5" "125885627" "125885627" "subst" "0" "01745" "ALDH7A1_000004" "g.125885627C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.126549935C>T" "" "likely pathogenic" "" "0000130100" "3" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01758" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic" "ACMG" "0000130182" "3" "70" "5" "125885679" "125885679" "dup" "0" "01758" "ALDH7A1_000005" "g.125885679dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.126549987dup" "" "likely pathogenic" "ACMG" "0000222108" "11" "70" "5" "125912904" "125912904" "subst" "8.1242E-6" "01745" "ALDH7A1_000003" "g.125912904C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.126577212C>G" "" "likely pathogenic" "" "0000244150" "3" "90" "5" "125912850" "125912850" "subst" "0" "00006" "ALDH7A1_000007" "g.125912850T>C" "" "{PMID:Karaca 2015:26539891}" "" "NM_001182: c.A571G; p.I191V" "" "Germline" "" "" "0" "" "" "g.126577158T>C" "" "pathogenic" "" "0000246309" "0" "10" "5" "125928395" "125928395" "subst" "0.0299126" "02330" "ALDH7A1_000034" "g.125928395A>G" "" "" "" "ALDH7A1(NM_001182.5):c.273T>C (p.T91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126592703A>G" "" "benign" "" "0000246311" "0" "10" "5" "125912915" "125912915" "subst" "0.0193355" "02330" "ALDH7A1_000027" "g.125912915A>C" "" "" "" "ALDH7A1(NM_001182.5):c.518-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126577223A>C" "" "benign" "" "0000250955" "0" "10" "5" "125928395" "125928395" "subst" "0.0299126" "02326" "ALDH7A1_000034" "g.125928395A>G" "" "" "" "ALDH7A1(NM_001182.5):c.273T>C (p.T91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126592703A>G" "" "benign" "" "0000250978" "0" "10" "5" "125912915" "125912915" "subst" "0.0193355" "02326" "ALDH7A1_000027" "g.125912915A>C" "" "" "" "ALDH7A1(NM_001182.5):c.518-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126577223A>C" "" "benign" "" "0000251340" "0" "10" "5" "125897008" "125897008" "subst" "0" "02326" "ALDH7A1_000049" "g.125897008A>G" "" "" "" "ALDH7A1(NM_001182.5):c.872-192T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126561316A>G" "" "benign" "" "0000251341" "0" "10" "5" "125919541" "125919541" "del" "0" "02326" "ALDH7A1_000029" "g.125919541del" "" "" "" "ALDH7A1(NM_001182.5):c.393+94delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126583849del" "" "benign" "" "0000252093" "0" "30" "5" "125928876" "125928876" "subst" "0" "02326" "ALDH7A1_000035" "g.125928876A>T" "" "" "" "ALDH7A1(NM_001182.5):c.246+167T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126593184A>T" "" "likely benign" "" "0000257562" "0" "50" "5" "125887768" "125887768" "subst" "0" "02330" "ALDH7A1_000015" "g.125887768G>A" "" "" "" "ALDH7A1(NM_001182.5):c.1262C>T (p.A421V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126552076G>A" "" "VUS" "" "0000257563" "0" "10" "5" "125887715" "125887715" "subst" "0.113922" "02330" "ALDH7A1_000012" "g.125887715T>G" "" "" "" "ALDH7A1(NM_001182.5):c.1315A>C (p.K439Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126552023T>G" "" "benign" "" "0000257565" "0" "10" "5" "125930950" "125930950" "subst" "0.0313641" "02330" "ALDH7A1_000048" "g.125930950C>T" "" "" "" "ALDH7A1(NM_001202404.1):c.-60G>A, ALDH7A1(NM_001202404.2):c.-60G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126595258C>T" "" "benign" "" "0000259024" "0" "10" "5" "125890105" "125890105" "subst" "0.0014021" "02325" "ALDH7A1_000017" "g.125890105G>C" "" "" "" "ALDH7A1(NM_001182.5):c.1094-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126554413G>C" "" "benign" "" "0000259027" "0" "10" "5" "125929033" "125929036" "dup" "0" "02325" "ALDH7A1_000042" "g.125929033_125929036dup" "" "" "" "ALDH7A1(NM_001182.5):c.246+39_246+42dupGTGT, ALDH7A1(NM_001182.5):c.246+6delAinsAGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126593341_126593344dup" "" "benign" "" "0000259028" "0" "10" "5" "125929029" "125929036" "dup" "0" "02325" "ALDH7A1_000043" "g.125929029_125929036dup" "" "" "" "ALDH7A1(NM_001182.5):c.246+6delAinsAGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126593337_126593344dup" "" "benign" "" "0000259029" "0" "10" "5" "125929033" "125929036" "del" "0" "02325" "ALDH7A1_000038" "g.125929033_125929036del" "" "" "" "ALDH7A1(NM_001182.5):c.246+39_246+42delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126593341_126593344del" "" "benign" "" "0000259454" "0" "30" "5" "125880710" "125880710" "subst" "0.00446723" "02325" "ALDH7A1_000008" "g.125880710T>C" "" "" "" "ALDH7A1(NM_001182.5):c.1567A>G (p.T523A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126545018T>C" "" "likely benign" "" "0000259455" "0" "30" "5" "125929035" "125929036" "dup" "0" "02325" "ALDH7A1_000044" "g.125929035_125929036dup" "" "" "" "ALDH7A1(NM_001182.5):c.246+41_246+42dupGT, ALDH7A1(NM_001182.5):c.246+6delAinsAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126593343_126593344dup" "" "likely benign" "" "0000259456" "0" "30" "5" "125929031" "125929036" "del" "0" "02325" "ALDH7A1_000037" "g.125929031_125929036del" "" "" "" "ALDH7A1(NM_001182.5):c.246+37_246+42delGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126593339_126593344del" "" "likely benign" "" "0000259457" "0" "30" "5" "125929035" "125929036" "del" "0" "02325" "ALDH7A1_000041" "g.125929035_125929036del" "" "" "" "ALDH7A1(NM_001182.5):c.246+41_246+42delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126593343_126593344del" "" "likely benign" "" "0000259458" "0" "30" "5" "125919644" "125919644" "subst" "0.00360185" "02325" "ALDH7A1_000031" "g.125919644T>C" "" "" "" "ALDH7A1(NM_001182.5):c.373A>G (p.I125V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126583952T>C" "" "likely benign" "" "0000259459" "0" "30" "5" "125930924" "125930924" "subst" "0.000542128" "02325" "ALDH7A1_000047" "g.125930924C>G" "" "" "" "ALDH7A1(NM_001202404.2):c.-34G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126595232C>G" "" "likely benign" "" "0000260054" "0" "90" "5" "125887751" "125887751" "subst" "0.000369901" "02329" "ALDH7A1_000014" "g.125887751C>G" "" "" "" "ALDH7A1(NM_001182.5):c.1279G>C (p.(Glu427Gln), p.E427Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic" "" "0000260739" "0" "90" "5" "125894936" "125894936" "subst" "8.13398E-6" "02326" "ALDH7A1_000018" "g.125894936C>T" "" "" "" "ALDH7A1(NM_001182.5):c.1004G>A (p.R335Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126559244C>T" "" "pathogenic" "" "0000260740" "0" "90" "5" "125890067" "125890067" "subst" "4.06279E-6" "02326" "ALDH7A1_000016" "g.125890067G>A" "" "" "" "ALDH7A1(NM_001182.5):c.1112C>T (p.P371L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126554375G>A" "" "pathogenic" "" "0000260741" "0" "90" "5" "125887751" "125887751" "subst" "0.000369901" "02326" "ALDH7A1_000014" "g.125887751C>G" "" "" "" "ALDH7A1(NM_001182.5):c.1279G>C (p.(Glu427Gln), p.E427Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic" "" "0000260742" "0" "10" "5" "125887715" "125887715" "subst" "0.113922" "02326" "ALDH7A1_000012" "g.125887715T>G" "" "" "" "ALDH7A1(NM_001182.5):c.1315A>C (p.K439Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126552023T>G" "" "benign" "" "0000260743" "0" "70" "5" "125885933" "125885933" "subst" "0" "02326" "ALDH7A1_000011" "g.125885933C>A" "" "" "" "ALDH7A1(NM_001182.5):c.1370G>T (p.S457I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126550241C>A" "" "likely pathogenic" "" "0000260745" "0" "70" "5" "125882073" "125882073" "subst" "0" "02326" "ALDH7A1_000009" "g.125882073C>G" "" "" "" "ALDH7A1(NM_001182.5):c.1508G>C (p.G503A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126546381C>G" "" "likely pathogenic" "" "0000260746" "0" "30" "5" "125880710" "125880710" "subst" "0.00446723" "02326" "ALDH7A1_000008" "g.125880710T>C" "" "" "" "ALDH7A1(NM_001182.5):c.1567A>G (p.T523A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126545018T>C" "" "likely benign" "" "0000260747" "0" "10" "5" "125929807" "125929807" "subst" "0" "02326" "ALDH7A1_000045" "g.125929807T>C" "" "" "" "ALDH7A1(NM_001182.5):c.193-711A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126594115T>C" "" "benign" "" "0000260748" "0" "30" "5" "125929012" "125929012" "subst" "0" "02326" "ALDH7A1_000036" "g.125929012C>A" "" "" "" "ALDH7A1(NM_001182.5):c.246+31G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126593320C>A" "" "likely benign" "" "0000260749" "0" "50" "5" "125928355" "125928355" "subst" "3.65539E-5" "02326" "ALDH7A1_000033" "g.125928355C>T" "" "" "" "ALDH7A1(NM_001182.5):c.312+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126592663C>T" "" "VUS" "" "0000260750" "0" "90" "5" "125919671" "125919671" "subst" "0" "02326" "ALDH7A1_000032" "g.125919671G>A" "" "" "" "ALDH7A1(NM_001182.5):c.346C>T (p.Q116*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126583979G>A" "" "pathogenic" "" "0000260751" "0" "90" "5" "125912832" "125912832" "subst" "1.21819E-5" "02326" "ALDH7A1_000026" "g.125912832G>A" "" "" "" "ALDH7A1(NM_001182.5):c.589C>T (p.P197S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126577140G>A" "" "pathogenic" "" "0000260752" "0" "10" "5" "125911132" "125911132" "subst" "0.0119014" "02326" "ALDH7A1_000024" "g.125911132G>A" "" "" "" "ALDH7A1(NM_001182.5):c.675C>T (p.L225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126575440G>A" "" "benign" "" "0000260753" "0" "10" "5" "125904304" "125904304" "subst" "0" "02326" "ALDH7A1_000023" "g.125904304G>C" "" "" "" "ALDH7A1(NM_001182.5):c.774-256C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126568612G>C" "" "benign" "" "0000260754" "0" "10" "5" "125895126" "125895126" "subst" "0" "02326" "ALDH7A1_000022" "g.125895126G>T" "" "" "" "ALDH7A1(NM_001182.5):c.914-100C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126559434G>T" "" "benign" "" "0000260755" "0" "30" "5" "125895119" "125895119" "subst" "0" "02326" "ALDH7A1_000019" "g.125895119G>T" "" "" "" "ALDH7A1(NM_001182.5):c.914-93C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126559427G>T" "" "likely benign" "" "0000260756" "0" "10" "5" "125895120" "125895120" "subst" "0" "02326" "ALDH7A1_000020" "g.125895120G>T" "" "" "" "ALDH7A1(NM_001182.5):c.914-94C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126559428G>T" "" "benign" "" "0000260757" "0" "10" "5" "125895125" "125895125" "subst" "0" "02326" "ALDH7A1_000021" "g.125895125G>T" "" "" "" "ALDH7A1(NM_001182.5):c.914-99C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126559433G>T" "" "benign" "" "0000262218" "0" "30" "5" "125887725" "125887725" "subst" "8.1314E-5" "01943" "ALDH7A1_000013" "g.125887725G>C" "" "" "" "ALDH7A1(NM_001182.4):c.1305C>G (p.V435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126552033G>C" "" "likely benign" "" "0000262219" "0" "10" "5" "125930950" "125930950" "subst" "0.0313641" "01943" "ALDH7A1_000048" "g.125930950C>T" "" "" "" "ALDH7A1(NM_001202404.1):c.-60G>A, ALDH7A1(NM_001202404.2):c.-60G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126595258C>T" "" "benign" "" "0000262220" "0" "50" "5" "125912789" "125912789" "subst" "0" "01943" "ALDH7A1_000025" "g.125912789C>A" "" "" "" "ALDH7A1(NM_001182.4):c.632G>T (p.C211F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126577097C>A" "" "VUS" "" "0000345411" "0" "90" "5" "125887751" "125887751" "subst" "0.000369901" "02327" "ALDH7A1_000014" "g.125887751C>G" "" "" "" "ALDH7A1(NM_001182.5):c.1279G>C (p.(Glu427Gln), p.E427Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic" "" "0000350866" "0" "90" "5" "125885616" "125885616" "subst" "2.03138E-5" "02327" "ALDH7A1_000001" "g.125885616C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126549924C>T" "" "pathogenic" "" "0000357984" "3" "30" "5" "125930818" "125930818" "subst" "2.20403E-5" "00006" "ALDH7A1_000050" "g.125930818G>A" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.126595126G>A" "" "likely benign" "" "0000404709" "1" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "00006" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic" "ACMG" "0000404710" "3" "70" "5" "125911143" "125911143" "subst" "1.22591E-5" "00006" "ALDH7A1_000052" "g.125911143T>C" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.126575451T>C" "" "likely pathogenic" "ACMG" "0000404734" "2" "90" "5" "125880712" "125880712" "subst" "2.03487E-5" "00006" "ALDH7A1_000051" "g.125880712C>A" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.126545020C>A" "" "pathogenic" "ACMG" "0000486676" "0" "77" "5" "125891644" "125891644" "subst" "4.0623E-6" "03250" "ALDH7A1_000053" "g.125891644G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126555952G>A" "" "pathogenic (recessive)" "" "0000498198" "1" "90" "5" "125919685" "125919685" "subst" "4.06098E-6" "01682" "ALDH7A1_000147" "g.125919685C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583993C>T" "" "pathogenic (recessive)" "" "0000498199" "2" "90" "5" "125887738" "125887738" "subst" "3.25224E-5" "01682" "ALDH7A1_000084" "g.125887738G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552046G>A" "" "pathogenic (recessive)" "" "0000498200" "1" "90" "5" "125882068" "125882068" "subst" "8.12817E-5" "01682" "ALDH7A1_000066" "g.125882068C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546376C>G" "" "pathogenic (recessive)" "" "0000498201" "2" "90" "5" "125885616" "125885616" "subst" "2.03138E-5" "01682" "ALDH7A1_000001" "g.125885616C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126549924C>T" "" "pathogenic (recessive)" "" "0000498202" "3" "90" "5" "125929042" "125929042" "subst" "4.07591E-6" "01682" "ALDH7A1_000149" "g.125929042C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126593350C>T" "" "pathogenic (recessive)" "" "0000498203" "1" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic (recessive)" "" "0000498204" "2" "90" "5" "125903988" "125903988" "subst" "5.27893E-5" "01682" "ALDH7A1_000114" "g.125903988C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568296C>T" "" "pathogenic (recessive)" "" "0000498205" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498206" "2" "90" "5" "125882068" "125882068" "subst" "8.12817E-5" "01682" "ALDH7A1_000066" "g.125882068C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546376C>G" "" "pathogenic (recessive)" "" "0000498207" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498208" "2" "90" "5" "125882068" "125882068" "subst" "8.12817E-5" "01682" "ALDH7A1_000066" "g.125882068C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546376C>G" "" "pathogenic (recessive)" "" "0000498209" "3" "90" "5" "125887729" "125887730" "del" "0" "01682" "ALDH7A1_000083" "g.125887729_125887730del" "" "{PMID:Coughlin 2019:30043187}" "" "c.1301_1302delAT" "" "Germline" "" "" "0" "" "" "g.126552037_126552038del" "" "pathogenic (recessive)" "" "0000498210" "1" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic (recessive)" "" "0000498211" "2" "90" "5" "125885928" "125885928" "subst" "8.12803E-6" "01682" "ALDH7A1_000074" "g.125885928T>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126550236T>A" "" "pathogenic (recessive)" "" "0000498212" "1" "90" "5" "125918554" "125918557" "del" "4.06144E-6" "01682" "ALDH7A1_000133" "g.125918554_125918557del" "" "{PMID:Coughlin 2019:30043187}" "" "c.503_506delTCTT" "" "Germline" "" "" "0" "" "" "g.126582862_126582865del" "" "pathogenic (recessive)" "" "0000498213" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498214" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498215" "2" "90" "5" "125882068" "125882068" "subst" "8.12817E-5" "01682" "ALDH7A1_000066" "g.125882068C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546376C>G" "" "pathogenic (recessive)" "" "0000498216" "3" "90" "5" "125891622" "125891622" "subst" "0" "01682" "ALDH7A1_000094" "g.125891622C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126555930C>T" "" "pathogenic (recessive)" "" "0000498217" "2" "90" "5" "125885959" "125885959" "subst" "0" "01682" "ALDH7A1_000080" "g.125885959A>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126550267A>T" "" "pathogenic (recessive)" "" "0000498218" "1" "90" "5" "125930697" "125930697" "subst" "0" "01682" "ALDH7A1_000154" "g.125930697A>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126595005A>C" "" "pathogenic (recessive)" "" "0000498219" "3" "90" "5" "" "" "" "" "01682" "ALDH7A1_000054" "g.(125906552_125911111)-(125911157_125912770)del" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000498220" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498221" "1" "90" "5" "125912882" "125912892" "del" "0" "01682" "ALDH7A1_000129" "g.125912882_125912892del" "" "{PMID:Coughlin 2019:30043187}" "" "c.532_542del11" "" "Germline" "" "" "0" "" "" "g.126577190_126577200del" "" "pathogenic (recessive)" "" "0000498222" "3" "90" "5" "125887738" "125887738" "subst" "3.25224E-5" "01682" "ALDH7A1_000084" "g.125887738G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552046G>A" "" "pathogenic (recessive)" "" "0000498223" "2" "90" "5" "125894990" "125894990" "subst" "8.13213E-6" "01682" "ALDH7A1_000102" "g.125894990G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126559298G>A" "" "pathogenic (recessive)" "" "0000498224" "1" "90" "5" "125904001" "125904001" "subst" "0" "01682" "ALDH7A1_000116" "g.125904001C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568309C>T" "" "pathogenic (recessive)" "" "0000498225" "2" "90" "5" "125887798" "125887798" "subst" "0" "01682" "ALDH7A1_000087" "g.125887798G>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552106G>C" "" "pathogenic (recessive)" "" "0000498226" "1" "90" "5" "125928355" "125928355" "subst" "3.65539E-5" "01682" "ALDH7A1_000033" "g.125928355C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126592663C>T" "" "pathogenic (recessive)" "" "0000498227" "2" "90" "5" "125882068" "125882068" "subst" "8.12817E-5" "01682" "ALDH7A1_000066" "g.125882068C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546376C>G" "" "pathogenic (recessive)" "" "0000498228" "1" "90" "5" "125918538" "125918538" "subst" "4.06164E-6" "01682" "ALDH7A1_000132" "g.125918538C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126582846C>T" "" "pathogenic (recessive)" "" "0000498229" "1" "90" "5" "125894936" "125894936" "subst" "8.13398E-6" "01682" "ALDH7A1_000018" "g.125894936C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.126559244C>T" "" "pathogenic (recessive)" "" "0000498230" "2" "90" "5" "125919685" "125919685" "subst" "4.06098E-6" "01682" "ALDH7A1_000147" "g.125919685C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583993C>T" "" "pathogenic (recessive)" "" "0000498231" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498232" "2" "90" "5" "125887738" "125887738" "subst" "3.25224E-5" "01682" "ALDH7A1_000084" "g.125887738G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552046G>A" "" "pathogenic (recessive)" "" "0000498233" "1" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic (recessive)" "" "0000498234" "2" "90" "5" "125911143" "125911143" "subst" "1.22591E-5" "01682" "ALDH7A1_000052" "g.125911143T>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126575451T>C" "" "pathogenic (recessive)" "" "0000498235" "1" "90" "5" "125912816" "125912816" "subst" "0" "01682" "ALDH7A1_000125" "g.125912816C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126577124C>T" "" "pathogenic (recessive)" "" "0000498236" "2" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic (recessive)" "" "0000498237" "1" "90" "5" "125918667" "125918667" "subst" "0" "01682" "ALDH7A1_000143" "g.125918667C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126582975C>G" "" "pathogenic (recessive)" "" "0000498238" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498239" "1" "90" "5" "125880712" "125880712" "subst" "2.03487E-5" "01682" "ALDH7A1_000051" "g.125880712C>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126545020C>A" "" "pathogenic (recessive)" "" "0000498240" "1" "90" "5" "125887738" "125887738" "subst" "3.25224E-5" "01682" "ALDH7A1_000084" "g.125887738G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.126552046G>A" "" "pathogenic (recessive)" "" "0000498241" "2" "90" "5" "125887729" "125887730" "del" "0" "01682" "ALDH7A1_000083" "g.125887729_125887730del" "" "{PMID:Coughlin 2019:30043187}" "" "c.1301_1302delAT" "" "Germline" "" "" "0" "" "" "g.126552037_126552038del" "" "pathogenic (recessive)" "" "0000498242" "1" "90" "5" "125885939" "125885939" "subst" "0" "01682" "ALDH7A1_000077" "g.125885939A>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126550247A>G" "" "pathogenic (recessive)" "" "0000498243" "2" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic (recessive)" "" "0000498244" "1" "90" "5" "125903950" "125903950" "subst" "0" "01682" "ALDH7A1_000111" "g.125903950C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568258C>T" "" "pathogenic (recessive)" "" "0000498245" "2" "90" "5" "125918554" "125918557" "del" "4.06144E-6" "01682" "ALDH7A1_000133" "g.125918554_125918557del" "" "{PMID:Coughlin 2019:30043187}" "" "c.503_506delTCTT" "" "Germline" "" "" "0" "" "" "g.126582862_126582865del" "" "pathogenic (recessive)" "" "0000498246" "1" "90" "5" "125880712" "125880712" "subst" "2.03487E-5" "01682" "ALDH7A1_000051" "g.125880712C>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126545020C>A" "" "pathogenic (recessive)" "" "0000498247" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498248" "1" "90" "5" "125882033" "125882033" "subst" "0" "01682" "ALDH7A1_000064" "g.125882033G>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546341G>T" "" "pathogenic (recessive)" "" "0000498249" "2" "90" "5" "125885683" "125885683" "subst" "0" "01682" "ALDH7A1_000070" "g.125885683G>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126549991G>C" "" "pathogenic (recessive)" "" "0000498250" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498251" "2" "90" "5" "125894966" "125894966" "subst" "8.13398E-6" "01682" "ALDH7A1_000099" "g.125894966G>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126559274G>C" "" "pathogenic (recessive)" "" "0000498252" "1" "90" "5" "125918579" "125918579" "subst" "0" "01682" "ALDH7A1_000136" "g.125918579A>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126582887A>G" "" "pathogenic (recessive)" "" "0000498253" "2" "90" "5" "125885936" "125885936" "subst" "0" "01682" "ALDH7A1_000076" "g.125885936G>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126550244G>C" "" "pathogenic (recessive)" "" "0000498254" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498255" "2" "90" "5" "125882068" "125882068" "subst" "8.12817E-5" "01682" "ALDH7A1_000066" "g.125882068C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546376C>G" "" "pathogenic (recessive)" "" "0000498256" "1" "90" "5" "125903974" "125903974" "subst" "4.06081E-6" "01682" "ALDH7A1_000112" "g.125903974C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568282C>T" "" "pathogenic (recessive)" "" "0000498257" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498258" "1" "90" "5" "125912816" "125912816" "subst" "0" "01682" "ALDH7A1_000125" "g.125912816C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126577124C>T" "" "pathogenic (recessive)" "" "0000498259" "2" "90" "5" "125887768" "125887768" "subst" "0" "01682" "ALDH7A1_000015" "g.125887768G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552076G>A" "" "pathogenic (recessive)" "" "0000498260" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498261" "3" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498262" "2" "90" "5" "125918538" "125918538" "subst" "4.06164E-6" "01682" "ALDH7A1_000132" "g.125918538C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126582846C>T" "" "pathogenic (recessive)" "" "0000498263" "1" "90" "5" "125885616" "125885616" "subst" "2.03138E-5" "01682" "ALDH7A1_000001" "g.125885616C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126549924C>T" "" "pathogenic (recessive)" "" "0000498264" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498265" "1" "90" "5" "125885904" "125885904" "subst" "0" "01682" "ALDH7A1_000073" "g.125885904C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "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" "" "" "g.126550212C>T" "" "pathogenic (recessive)" "" "0000498266" "2" "90" "5" "125889978" "125889978" "subst" "0" "01682" "ALDH7A1_000090" "g.125889978C>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126554286C>A" "" "pathogenic (recessive)" "" "0000498267" "1" "90" "5" "125912832" "125912832" "subst" "1.21819E-5" "01682" "ALDH7A1_000026" "g.125912832G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126577140G>A" "" "pathogenic (recessive)" "" "0000498268" "2" "90" "5" "125918554" "125918557" "del" "4.06144E-6" "01682" "ALDH7A1_000133" "g.125918554_125918557del" "" "{PMID:Coughlin 2019:30043187}" "" "c.503_506delTCTT" "" "Germline" "" "" "0" "" "" "g.126582862_126582865del" "" "pathogenic (recessive)" "" "0000498269" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498270" "3" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498271" "2" "90" "5" "125880712" "125880712" "subst" "2.03487E-5" "01682" "ALDH7A1_000051" "g.125880712C>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126545020C>A" "" "pathogenic (recessive)" "" "0000498272" "1" "90" "5" "125885616" "125885616" "subst" "2.03138E-5" "01682" "ALDH7A1_000001" "g.125885616C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126549924C>T" "" "pathogenic (recessive)" "" "0000498273" "2" "90" "5" "125904026" "125904026" "subst" "8.12163E-6" "01682" "ALDH7A1_000118" "g.125904026G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568334G>A" "" "pathogenic (recessive)" "" "0000498274" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498275" "2" "90" "5" "125880712" "125880712" "subst" "2.03487E-5" "01682" "ALDH7A1_000051" "g.125880712C>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126545020C>A" "" "pathogenic (recessive)" "" "0000498276" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498277" "3" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498278" "2" "90" "5" "125894975" "125894975" "subst" "5.69342E-5" "01682" "ALDH7A1_000101" "g.125894975G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126559283G>A" "" "pathogenic (recessive)" "" "0000498279" "1" "90" "5" "125903981" "125903981" "subst" "4.06075E-6" "01682" "ALDH7A1_000113" "g.125903981G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568289G>A" "" "pathogenic (recessive)" "" "0000498280" "2" "90" "5" "125882068" "125882068" "subst" "8.12817E-5" "01682" "ALDH7A1_000066" "g.125882068C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546376C>G" "" "pathogenic (recessive)" "" "0000498281" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498282" "2" "90" "5" "125918566" "125918566" "subst" "0" "01682" "ALDH7A1_000135" "g.125918566C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126582874C>T" "" "pathogenic (recessive)" "" "0000498283" "1" "90" "5" "125919685" "125919685" "subst" "4.06098E-6" "01682" "ALDH7A1_000147" "g.125919685C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583993C>T" "" "pathogenic (recessive)" "" "0000498284" "2" "90" "5" "125911143" "125911143" "subst" "1.22591E-5" "01682" "ALDH7A1_000052" "g.125911143T>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126575451T>C" "" "pathogenic (recessive)" "" "0000498285" "1" "90" "5" "125887749" "125887749" "subst" "0" "01682" "ALDH7A1_000085" "g.125887749C>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552057C>A" "" "pathogenic (recessive)" "" "0000498286" "2" "90" "5" "125887738" "125887738" "subst" "3.25224E-5" "01682" "ALDH7A1_000084" "g.125887738G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552046G>A" "" "pathogenic (recessive)" "" "0000498287" "1" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic (recessive)" "" "0000498288" "2" "90" "5" "125930704" "125930704" "subst" "8.88502E-6" "01682" "ALDH7A1_000157" "g.125930704C>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126595012C>A" "" "pathogenic (recessive)" "" "0000498289" "1" "90" "5" "125919653" "125919653" "subst" "8.93372E-5" "01682" "ALDH7A1_000146" "g.125919653G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583961G>A" "" "pathogenic (recessive)" "" "0000498290" "3" "90" "5" "125885897" "125885897" "subst" "0.000646362" "01682" "ALDH7A1_000072" "g.125885897C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126550205C>T" "" "pathogenic (recessive)" "" "0000498291" "2" "90" "5" "125889996" "125889996" "subst" "4.06121E-6" "01682" "ALDH7A1_000093" "g.125889996C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126554304C>T" "" "pathogenic (recessive)" "" "0000498292" "1" "90" "5" "125930772" "125930772" "subst" "0" "01682" "ALDH7A1_000158" "g.125930772G>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126595080G>C" "" "pathogenic (recessive)" "" "0000498293" "3" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498294" "1" "90" "5" "125912846" "125912846" "subst" "1.21821E-5" "01682" "ALDH7A1_000128" "g.125912846G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.126577154G>A" "" "pathogenic (recessive)" "" "0000498295" "3" "90" "5" "125918600" "125918600" "subst" "4.06167E-6" "01682" "ALDH7A1_000139" "g.125918600A>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126582908A>G" "" "pathogenic (recessive)" "" "0000498296" "3" "90" "5" "" "" "" "" "01682" "ALDH7A1_000054" "g.(125906552_125911111)-(125911157_125912770)del" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000498297" "3" "90" "5" "125880712" "125880712" "subst" "0" "01682" "ALDH7A1_000059" "g.125880712C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126545020C>G" "" "pathogenic (recessive)" "" "0000498298" "3" "90" "5" "125903988" "125903988" "subst" "5.27893E-5" "01682" "ALDH7A1_000114" "g.125903988C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568296C>T" "" "pathogenic (recessive)" "" "0000498299" "2" "90" "5" "125903988" "125903988" "subst" "5.27893E-5" "01682" "ALDH7A1_000114" "g.125903988C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568296C>T" "" "pathogenic (recessive)" "" "0000498300" "1" "90" "5" "125885678" "125885678" "subst" "0" "01682" "ALDH7A1_000069" "g.125885678A>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126549986A>T" "" "pathogenic (recessive)" "" "0000498301" "2" "90" "5" "125885616" "125885616" "subst" "2.03138E-5" "01682" "ALDH7A1_000001" "g.125885616C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126549924C>T" "" "pathogenic (recessive)" "" "0000498302" "1" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic (recessive)" "" "0000498303" "3" "90" "5" "125918538" "125918538" "subst" "4.06164E-6" "01682" "ALDH7A1_000132" "g.125918538C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126582846C>T" "" "pathogenic (recessive)" "" "0000498304" "2" "90" "5" "125903988" "125903988" "subst" "5.27893E-5" "01682" "ALDH7A1_000114" "g.125903988C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568296C>T" "" "pathogenic (recessive)" "" "0000498305" "1" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic (recessive)" "" "0000498306" "2" "90" "5" "125912832" "125912832" "subst" "1.21819E-5" "01682" "ALDH7A1_000026" "g.125912832G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "unknown variant 2nd allele" "Germline" "" "" "0" "" "" "g.126577140G>A" "" "pathogenic (recessive)" "" "0000498307" "3" "90" "5" "125885630" "125885630" "subst" "0" "01682" "ALDH7A1_000067" "g.125885630C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126549938C>G" "" "pathogenic (recessive)" "" "0000498308" "3" "90" "5" "125930697" "125930697" "dup" "0" "01682" "ALDH7A1_000155" "g.125930697dup" "" "{PMID:Coughlin 2019:30043187}" "" "c.192+2dupT" "" "Germline" "" "" "0" "" "" "g.126595005dup" "" "pathogenic (recessive)" "" "0000498309" "3" "90" "5" "125880681" "125880681" "del" "0" "01682" "ALDH7A1_000056" "g.125880681del" "" "{PMID:Coughlin 2019:30043187}" "" "c.1597delG" "" "Germline" "" "" "0" "" "" "g.126544989del" "" "pathogenic (recessive)" "" "0000498310" "3" "90" "5" "125880712" "125880712" "subst" "0" "01682" "ALDH7A1_000059" "g.125880712C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126545020C>G" "" "pathogenic (recessive)" "" "0000498311" "3" "90" "5" "125919623" "125919705" "del" "0" "01682" "ALDH7A1_000145" "g.(125918667_125919623)_(125919705_125928355)del" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000498312" "3" "90" "5" "125880712" "125880712" "subst" "2.03487E-5" "01682" "ALDH7A1_000051" "g.125880712C>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126545020C>A" "" "pathogenic (recessive)" "" "0000498313" "3" "90" "5" "125880712" "125880712" "subst" "2.03487E-5" "01682" "ALDH7A1_000051" "g.125880712C>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126545020C>A" "" "pathogenic (recessive)" "" "0000498314" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498315" "1" "90" "5" "125894975" "125894975" "subst" "5.69342E-5" "01682" "ALDH7A1_000101" "g.125894975G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126559283G>A" "" "pathogenic (recessive)" "" "0000498316" "2" "90" "5" "125895002" "125895006" "del" "0" "01682" "ALDH7A1_000104" "g.125895002_125895006del" "" "{PMID:Coughlin 2019:30043187}" "" "c.936_940delCTTAG" "" "Germline" "" "" "0" "" "" "g.126559310_126559314del" "" "pathogenic (recessive)" "" "0000498317" "1" "90" "5" "125887716" "125887716" "subst" "0" "01682" "ALDH7A1_000082" "g.125887716G>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552024G>T" "" "pathogenic (recessive)" "" "0000498318" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498319" "1" "90" "5" "125903988" "125903988" "subst" "5.27893E-5" "01682" "ALDH7A1_000114" "g.125903988C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568296C>T" "" "pathogenic (recessive)" "" "0000498320" "2" "90" "5" "125911143" "125911143" "subst" "1.22591E-5" "01682" "ALDH7A1_000052" "g.125911143T>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126575451T>C" "" "pathogenic (recessive)" "" "0000498321" "1" "90" "5" "125929042" "125929042" "subst" "4.07591E-6" "01682" "ALDH7A1_000149" "g.125929042C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126593350C>T" "" "pathogenic (recessive)" "" "0000498322" "2" "90" "5" "125882034" "125882034" "subst" "7.31143E-5" "01682" "ALDH7A1_000065" "g.125882034T>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546342T>C" "" "pathogenic (recessive)" "" "0000498323" "1" "90" "5" "125903946" "125903946" "subst" "4.06091E-6" "01682" "ALDH7A1_000110" "g.125903946C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568254C>T" "" "pathogenic (recessive)" "" "0000498324" "2" "90" "5" "125903988" "125903988" "subst" "5.27893E-5" "01682" "ALDH7A1_000114" "g.125903988C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568296C>T" "" "pathogenic (recessive)" "" "0000498325" "1" "90" "5" "" "" "" "" "01682" "ALDH7A1_000054" "g.(125906552_125911111)-(125911157_125912770)del" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000498326" "2" "90" "5" "125885928" "125885928" "subst" "8.12803E-6" "01682" "ALDH7A1_000074" "g.125885928T>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126550236T>A" "" "pathogenic (recessive)" "" "0000498327" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498328" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498329" "1" "90" "5" "125918593" "125918593" "subst" "0" "01682" "ALDH7A1_000138" "g.125918593T>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126582901T>C" "" "pathogenic (recessive)" "" "0000498330" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498331" "1" "90" "5" "125894958" "125894958" "subst" "0" "01682" "ALDH7A1_000098" "g.125894958G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126559266G>A" "" "pathogenic (recessive)" "" "0000498332" "3" "90" "5" "125885968" "125885968" "del" "0" "01682" "ALDH7A1_000081" "g.125885968delinsTTT" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126550276delinsTTT" "" "pathogenic (recessive)" "" "0000498333" "3" "90" "5" "125880656" "125882092" "del" "0" "01682" "ALDH7A1_000055" "g.(?_125880656)_(125882092_125885620)del" "" "{PMID:Coughlin 2019:30043187}" "" "c.(1489+1_1490-1)_(1620+1_?)del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000498334" "3" "90" "5" "125912835" "125912835" "subst" "0" "01682" "ALDH7A1_000127" "g.125912835A>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126577143A>T" "" "pathogenic (recessive)" "" "0000498335" "3" "90" "5" "125912770" "125912904" "del" "0" "01682" "ALDH7A1_000123" "g.(125911157_125912770)_(125912904_125918542)del" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000498336" "3" "90" "5" "125896811" "125896812" "dup" "0" "01682" "ALDH7A1_000108" "g.125896811_125896812dup" "" "{PMID:Coughlin 2019:30043187}" "" "c.876_877dupAA" "" "Germline" "" "" "0" "" "" "g.126561119_126561120dup" "" "pathogenic (recessive)" "" "0000498337" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498338" "1" "90" "5" "125896786" "125896786" "subst" 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"subst" "0" "01682" "ALDH7A1_000067" "g.125885630C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126549938C>G" "" "pathogenic (recessive)" "" "0000498458" "1" "90" "5" "125894966" "125894966" "subst" "0" "01682" "ALDH7A1_000100" "g.125894966G>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126559274G>T" "" "pathogenic (recessive)" "" "0000498459" "2" "90" "5" "125885630" "125885630" "subst" "0" "01682" "ALDH7A1_000067" "g.125885630C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126549938C>G" "" "pathogenic (recessive)" "" "0000498460" "1" "90" "5" "125894966" "125894966" "subst" "0" "01682" "ALDH7A1_000100" "g.125894966G>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126559274G>T" "" "pathogenic (recessive)" "" "0000498461" "2" "90" "5" "125903988" "125903988" "subst" "5.27893E-5" "01682" "ALDH7A1_000114" "g.125903988C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568296C>T" "" "pathogenic (recessive)" "" "0000498462" "1" "90" "5" "125912832" "125912832" "subst" "1.21819E-5" "01682" "ALDH7A1_000026" "g.125912832G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126577140G>A" "" "pathogenic (recessive)" "" "0000498463" "2" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498464" "1" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic (recessive)" "" "0000498465" "2" "90" "5" "125903988" "125903988" "subst" "5.27893E-5" "01682" "ALDH7A1_000114" "g.125903988C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568296C>T" "" "pathogenic (recessive)" "" "0000498466" "1" "90" "5" "125912832" "125912832" "subst" "1.21819E-5" "01682" "ALDH7A1_000026" "g.125912832G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126577140G>A" "" "pathogenic (recessive)" "" "0000498467" "3" "90" "5" "125928355" "125928355" "subst" "3.65539E-5" "01682" "ALDH7A1_000033" "g.125928355C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126592663C>T" "" "pathogenic (recessive)" "" "0000498468" "3" "90" "5" "125928355" "125928355" "subst" "3.65539E-5" "01682" "ALDH7A1_000033" "g.125928355C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126592663C>T" "" "pathogenic (recessive)" "" "0000498469" "2" "90" "5" "125885630" "125885630" "subst" "0" "01682" "ALDH7A1_000067" "g.125885630C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126549938C>G" "" "pathogenic (recessive)" "" "0000498470" "1" "90" "5" "125894966" "125894966" "subst" "0" "01682" "ALDH7A1_000100" "g.125894966G>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126559274G>T" "" "pathogenic (recessive)" "" "0000498471" "3" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498472" "2" "90" "5" "125882068" "125882068" "subst" "8.12817E-5" "01682" "ALDH7A1_000066" "g.125882068C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546376C>G" "" "pathogenic (recessive)" "" "0000498473" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498474" "2" "90" "5" "125880712" "125880712" "subst" "2.03487E-5" "01682" "ALDH7A1_000051" "g.125880712C>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126545020C>A" "" "pathogenic (recessive)" "" "0000498475" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498476" "2" "90" "5" "125904026" "125904026" "subst" "8.12163E-6" "01682" "ALDH7A1_000118" "g.125904026G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568334G>A" "" "pathogenic (recessive)" "" "0000498477" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498478" "2" "90" "5" "125882068" "125882068" "subst" "8.12817E-5" "01682" "ALDH7A1_000066" "g.125882068C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126546376C>G" "" "pathogenic (recessive)" "" "0000498479" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498480" "2" "90" "5" "125890067" "125890067" "subst" "4.06279E-6" "01682" "ALDH7A1_000016" "g.125890067G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126554375G>A" "" "pathogenic (recessive)" "" "0000498481" "1" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126583997G>A" "" "pathogenic (recessive)" "" "0000498482" "2" "90" "5" "125903996" "125903996" "subst" "0" "01682" "ALDH7A1_000115" "g.125903996T>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568304T>G" "" "pathogenic (recessive)" "" "0000498483" "1" "90" "5" "125894936" "125894936" "subst" "8.13398E-6" "01682" "ALDH7A1_000018" "g.125894936C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126559244C>T" "" "pathogenic (recessive)" "" "0000498484" "2" "90" "5" "125891622" "125891622" "subst" "0" "01682" "ALDH7A1_000094" "g.125891622C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126555930C>T" "" "pathogenic (recessive)" "" "0000498485" "1" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498486" "3" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic (recessive)" "" "0000498487" "2" "90" "5" "125903988" "125903988" "subst" "5.27893E-5" "01682" "ALDH7A1_000114" "g.125903988C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568296C>T" "" "pathogenic (recessive)" "" "0000498488" "1" "90" "5" "125911157" "125911159" "del" "4.11022E-6" "01682" "ALDH7A1_000122" "g.125911157_125911159del" "" "{PMID:Coughlin 2019:30043187}" "" "c.651-3_651-1delAAG" "" "Germline" "" "" "0" "" "" "g.126575465_126575467del" "" "pathogenic (recessive)" "" "0000498489" "2" "90" "5" "125903988" "125903988" "subst" "5.27893E-5" "01682" "ALDH7A1_000114" "g.125903988C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "" "Germline" "" "" "0" "" "" "g.126568296C>T" "" "pathogenic (recessive)" "" "0000498490" "1" "90" "5" "125911157" "125911159" "del" "4.11022E-6" "01682" "ALDH7A1_000122" "g.125911157_125911159del" "" "{PMID:Coughlin 2019:30043187}" "" "c.651-3_651-1delAAG" "" "Germline" "" "" "0" "" "" "g.126575465_126575467del" "" "pathogenic (recessive)" "" "0000498493" "0" "70" "5" "125887716" "125887716" "subst" "0" "01682" "ALDH7A1_000082" "g.125887716G>T" "" "{PMID:Coulter-Mackie 2014:24613284}" "" "" "expression cloning in E.coli (at 30oC) shows 0.27 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126552024G>T" "" "NA" "" "0000498494" "0" "70" "5" "125889995" "125889995" "subst" "0" "01682" "ALDH7A1_000092" "g.125889995A>C" "" "{PMID:Coulter-Mackie 2014:24613284}" "" "" "expression cloning in E.coli (at 30oC) shows 0.64 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126554303A>C" "" "NA" "" "0000498495" "0" "30" "5" "125885678" "125885678" "subst" "0" "01682" "ALDH7A1_000069" "g.125885678A>T" "" "{PMID:Coulter-Mackie 2014:24613284}" "" "" "expression cloning in E.coli (at 30oC) shows 0.80 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126549986A>T" "" "NA" "" "0000498496" "0" "70" "5" "125889995" "125889995" "subst" "0" "01682" "ALDH7A1_000092" "g.125889995A>C" "" "{PMID:Coulter-Mackie 2014:24613284}" "" "" "expression cloning in E.coli (at 37oC) shows 0.12 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126554303A>C" "" "NA" "" "0000498497" "0" "70" "5" "125887716" "125887716" "subst" "0" "01682" "ALDH7A1_000082" "g.125887716G>T" "" "{PMID:Coulter-Mackie 2014:24613284}" "" "" "expression cloning in E.coli (at 37oC) shows 0.13 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126552024G>T" "" "NA" "" "0000498498" "0" "70" "5" "125885678" "125885678" "subst" "0" "01682" "ALDH7A1_000069" "g.125885678A>T" "" "{PMID:Coulter-Mackie 2014:24613284}" "" "" "expression cloning in E.coli (at 37oC) shows 0.19 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126549986A>T" "" "NA" "" "0000498499" "0" "70" "5" "125904001" "125904001" "subst" "0" "01682" "ALDH7A1_000116" "g.125904001C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "expression cloning in E.coli (at 37oC) shows 0.22 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126568309C>T" "" "NA" "" "0000498500" "0" "70" "5" "125891700" "125891700" "subst" "0.000182873" "01682" "ALDH7A1_000095" "g.125891700T>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "expression cloning in E.coli (at 37oC) shows 0.268 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126556008T>C" "" "NA" "" "0000498501" "0" "70" "5" "125880680" "125880680" "subst" "7.72464E-5" "01682" "ALDH7A1_000057" "g.125880680C>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "expression cloning in E.coli (at 37oC) shows 0.312 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126544988C>T" "" "NA" "" "0000498502" "0" "70" "5" "125882034" "125882034" "subst" "7.31143E-5" "01682" "ALDH7A1_000065" "g.125882034T>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "expression cloning in E.coli (at 37oC) shows 0.344 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126546342T>C" "" "NA" "" "0000498503" "0" "70" "5" "125929086" "125929086" "subst" "0.000105618" "01682" "ALDH7A1_000151" "g.125929086G>T" "" "{PMID:Coughlin 2019:30043187}" "" "" "expression cloning in E.coli (at 37oC) shows 0.535 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126593394G>T" "" "NA" "" "0000498504" "0" "30" "5" "125894990" "125894990" "subst" "8.13213E-6" "01682" "ALDH7A1_000102" "g.125894990G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "expression cloning in E.coli (at 37oC) shows 0.80 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126559298G>A" "" "NA" "" "0000498505" "0" "30" "5" "125919653" "125919653" "subst" "8.93372E-5" "01682" "ALDH7A1_000146" "g.125919653G>A" "" "{PMID:Coughlin 2019:30043187}" "" "" "expression cloning in E.coli (at 37oC) shows 0.812 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126583961G>A" "" "NA" "" "0000498506" "0" "30" "5" "125891706" "125891706" "subst" "9.34807E-5" "01682" "ALDH7A1_000096" "g.125891706A>C" "" "{PMID:Coughlin 2019:30043187}" "" "" "expression cloning in E.coli (at 37oC) shows 0.898 alpha‐AASADH activity (nmol NADH/min/mg ATQ)" "In vitro (cloned)" "" "" "0" "" "" "g.126556014A>C" "" "NA" "" "0000498507" "0" "90" "5" "125887806" "125887806" "subst" "8.12863E-6" "01682" "ALDH7A1_000088" "g.125887806A>C" "" "{PMID:Mills 2006:16491085}" "" "" "expression cloning in E.coli shows 0.018 alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126552114A>C" "" "NA" "" "0000498508" "0" "90" "5" "125880681" "125880681" "del" "0" "01682" "ALDH7A1_000056" "g.125880681del" "" "{PMID:Mills 2006:16491085}" "" "1596delG" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126544989del" "" "NA" "" "0000498509" "0" "90" "5" "125882068" "125882068" "subst" "8.12817E-5" "01682" "ALDH7A1_000066" "g.125882068C>G" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126546376C>G" "" "NA" "" "0000498510" "0" "90" "5" "125885928" "125885928" "subst" "8.12803E-6" "01682" "ALDH7A1_000074" "g.125885928T>A" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126550236T>A" "" "NA" "" "0000498511" "0" "90" "5" "125887750" "125887750" "subst" "4.06464E-6" "01682" "ALDH7A1_000086" "g.125887750T>C" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126552058T>C" "" "NA" "" "0000498512" "0" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Mills 2006:16491085}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126552059C>G" "" "NA" "" "0000498513" "0" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01682" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126552059C>G" "" "NA" "" "0000498514" "0" "90" "5" "125894936" "125894936" "subst" "8.13398E-6" "01682" "ALDH7A1_000018" "g.125894936C>T" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126559244C>T" "" "NA" "" "0000498515" "0" "90" "5" "125894966" "125894966" "subst" "8.13398E-6" "01682" "ALDH7A1_000099" "g.125894966G>C" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126559274G>C" "" "NA" "" "0000498516" "0" "90" "5" "125894966" "125894966" "subst" "0" "01682" "ALDH7A1_000100" "g.125894966G>T" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126559274G>T" "" "NA" "" "0000498517" "0" "90" "5" "125896786" "125896786" "subst" "1.62505E-5" "01682" "ALDH7A1_000106" "g.125896786T>A" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126561094T>A" "" "NA" "" "0000498518" "0" "90" "5" "125903974" "125903974" "subst" "4.06081E-6" "01682" "ALDH7A1_000112" "g.125903974C>T" "" "{PMID:Korasick 2017:28087462}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126568282C>T" "" "NA" "" "0000498519" "0" "90" "5" "125912891" "125912891" "subst" "8.12308E-6" "01682" "ALDH7A1_000130" "g.125912891G>T" "" "{PMID:Korasick 2017:28087462}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126577199G>T" "" "NA" "" "0000498520" "0" "90" "5" "125918566" "125918566" "subst" "0" "01682" "ALDH7A1_000135" "g.125918566C>T" "" "{PMID:Korasick 2017:28087462}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "In vitro (cloned)" "" "" "0" "" "" "g.126582874C>T" "" "NA" "" "0000498521" "0" "90" "5" "125919685" "125919685" "subst" "4.06098E-6" "01682" "ALDH7A1_000147" "g.125919685C>T" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126583993C>T" "" "NA" "" "0000498522" "0" "90" "5" "125919689" "125919689" "subst" "5.68551E-5" "01682" "ALDH7A1_000006" "g.125919689G>A" "" "{PMID:Mills 2006:16491085}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126583997G>A" "" "NA" "" "0000498523" "0" "90" "5" "125885930" "125885930" "subst" "0" "01682" "ALDH7A1_000075" "g.125885930C>T" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126550238C>T" "" "NA" "" "0000498524" "0" "90" "5" "125918591" "125918591" "subst" "0" "01682" "ALDH7A1_000137" "g.125918591C>G" "" "{PMID:Korasick 2017:28087462}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126582899C>G" "" "NA" "" "0000498525" "0" "90" "5" "125918563" "125918563" "subst" "0" "01682" "ALDH7A1_000134" "g.125918563C>A" "" "{PMID:Korasick 2017:28087462}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126582871C>A" "" "NA" "" "0000498526" "0" "90" "5" "125912825" "125912825" "subst" "0" "01682" "ALDH7A1_000126" "g.125912825G>A" "" "{PMID:Mills 2006:16491085}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126577133G>A" "" "NA" "" "0000498527" "0" "90" "5" "125912825" "125912825" "subst" "0" "01682" "ALDH7A1_000126" "g.125912825G>A" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126577133G>A" "" "NA" "" "0000498528" "0" "90" "5" "125912814" "125912814" "subst" "2.03028E-5" "01682" "ALDH7A1_000124" "g.125912814A>C" "" "{PMID:Coulter-Mackie 2012:22784480}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126577122A>C" "" "NA" "" "0000498529" "0" "90" "5" "125896816" "125896816" "subst" "0" "01682" "ALDH7A1_000109" "g.125896816C>T" "" "{PMID:Korasick 2017:28087462}" "" "" "expression cloning in E.coli shows no alpha‐AASADH activity" "In vitro (cloned)" "" "" "0" "" "" "g.126561124C>T" "" "NA" "" "0000523933" "0" "30" "5" "125880710" "125880710" "subst" "0.00446723" "02330" "ALDH7A1_000008" "g.125880710T>C" "" "" "" "ALDH7A1(NM_001182.5):c.1567A>G (p.T523A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126545018T>C" "" "likely benign" "" "0000523934" "0" "70" "5" "125885627" "125885627" "subst" "0" "02327" "ALDH7A1_000004" "g.125885627C>T" "" "" "" "ALDH7A1(NM_001182.5):c.1483G>A (p.A495T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126549935C>T" "" "likely pathogenic" "" "0000523935" "0" "50" "5" "125885891" "125885892" "ins" "2.43906E-5" "02326" "ALDH7A1_000159" "g.125885891_125885892insC" "" "" "" "ALDH7A1(NM_001182.5):c.1411_1412insG (p.L471Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126550199_126550200insC" "" "VUS" "" "0000523936" "0" "50" "5" "125885897" "125885897" "subst" "0.000646362" "01943" "ALDH7A1_000072" "g.125885897C>T" "" "" "" "ALDH7A1(NM_001182.4):c.1406G>A (p.R469H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126550205C>T" "" "VUS" "" "0000523938" "0" "10" "5" "125887767" "125887767" "subst" "0.000394315" "02330" "ALDH7A1_000160" "g.125887767C>T" "" "" "" "ALDH7A1(NM_001182.5):c.1263G>A (p.A421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126552075C>T" "" "benign" "" "0000523939" "0" "10" "5" "125887796" "125887796" "subst" "0.00649076" "02330" "ALDH7A1_000161" "g.125887796T>C" "" "" "" "ALDH7A1(NM_001182.5):c.1234A>G (p.T412A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126552104T>C" "" "benign" "" "0000523940" "0" "10" "5" "125890125" "125890125" "subst" "0.00587407" "02326" "ALDH7A1_000162" "g.125890125T>A" "" "" "" "ALDH7A1(NM_001182.5):c.1094-40A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126554433T>A" "" "benign" "" "0000523941" "0" "50" "5" "125891655" "125891655" "subst" "0" "02325" "ALDH7A1_000163" "g.125891655T>A" "" "" "" "ALDH7A1(NM_001182.5):c.1061A>T (p.Y354F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126555963T>A" "" "VUS" "" "0000523942" "0" "10" "5" "125891713" "125891713" "subst" "0.00119381" "02326" "ALDH7A1_000164" "g.125891713C>T" "" "" "" "ALDH7A1(NM_001182.5):c.1009-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126556021C>T" "" "benign" "" "0000523943" "0" "10" "5" "125896821" "125896821" "subst" "0" "02326" "ALDH7A1_000165" "g.125896821A>T" "" "" "" "ALDH7A1(NM_001182.5):c.872-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126561129A>T" "" "benign" "" "0000523944" "0" "10" "5" "125911132" "125911132" "subst" "0.0119014" "02330" "ALDH7A1_000024" "g.125911132G>A" "" "" "" "ALDH7A1(NM_001182.5):c.675C>T (p.L225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126575440G>A" "" "benign" "" "0000523945" "0" "50" "5" "125912877" "125912877" "subst" "0" "01804" "ALDH7A1_000166" "g.125912877A>G" "" "" "" "ALDH7A1(NM_001182.4):c.544T>C (p.(Trp182Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126577185A>G" "" "VUS" "" "0000523946" "0" "50" "5" "125912891" "125912891" "subst" "0" "01804" "ALDH7A1_000167" "g.125912891G>A" "" "" "" "ALDH7A1(NM_001182.4):c.530C>T (p.(Ala177Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126577199G>A" "" "VUS" "" "0000523947" "0" "50" "5" "125918618" "125918618" "subst" "7.71655E-5" "01804" "ALDH7A1_000168" "g.125918618G>C" "" "" "" "ALDH7A1(NM_001182.4):c.442C>G (p.(Gln148Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126582926G>C" "" "VUS" "" "0000523948" "0" "50" "5" "125928376" "125928376" "subst" "0" "01804" "ALDH7A1_000169" "g.125928376C>T" "" "" "" "ALDH7A1(NM_001182.4):c.292G>A (p.(Ala98Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126592684C>T" "" "VUS" "" "0000523949" "0" "10" "5" "125929031" "125929036" "dup" "0" "02325" "ALDH7A1_000170" "g.125929031_125929036dup" "" "" "" "ALDH7A1(NM_001182.5):c.246+37_246+42dupGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126593339_126593344dup" "" "benign" "" "0000523950" "0" "10" "5" "125929194" "125929194" "subst" "0" "02326" "ALDH7A1_000171" "g.125929194T>C" "" "" "" "ALDH7A1(NM_001182.5):c.193-98A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126593502T>C" "" "benign" "" "0000523951" "0" "10" "5" "125930852" "125930852" "subst" "0.000453491" "02330" "ALDH7A1_000172" "g.125930852T>C" "" "" "" "ALDH7A1(NM_001182.5):c.39A>G (p.A13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126595160T>C" "" "benign" "" "0000609417" "0" "10" "5" "125885803" "125885803" "subst" "0" "02327" "ALDH7A1_000175" "g.125885803T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126550111T>G" "" "benign" "" "0000621455" "0" "50" "5" "125903984" "125903984" "subst" "1.62427E-5" "02325" "ALDH7A1_000176" "g.125903984T>C" "" "" "" "ALDH7A1(NM_001182.4):c.838A>G (p.K280E), ALDH7A1(NM_001182.5):c.838A>G (p.K280E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126568292T>C" "" "VUS" "" "0000651564" "1" "50" "5" "125880710" "125880710" "subst" "0.00446723" "03575" "ALDH7A1_000008" "g.125880710T>C" "22/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 22 heterozygous, no homozygous; {DB:CLININrs61757684}" "Germline" "" "rs61757684" "0" "" "" "g.126545018T>C" "" "VUS" "" "0000651565" "1" "90" "5" "125894954" "125894954" "subst" "0" "03575" "ALDH7A1_000177" "g.125894954C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININALDH7A1-chr5-125894954}" "Germline" "" "" "0" "" "" "g.126559262C>T" "" "pathogenic" "" "0000651566" "1" "30" "5" "125912915" "125912915" "subst" "0.0193355" "03575" "ALDH7A1_000027" "g.125912915A>C" "12/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs79544459}" "Germline" "" "rs79544459" "0" "" "" "g.126577223A>C" "" "likely benign" "" "0000689402" "0" "50" "5" "125885878" "125885878" "subst" "0" "02327" "ALDH7A1_000178" "g.125885878A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689404" "0" "50" "5" "125912789" "125912789" "subst" "0" "02327" "ALDH7A1_000179" "g.125912789C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720107" "0" "30" "5" "125887693" "125887693" "subst" "0.000830044" "02326" "ALDH7A1_000180" "g.125887693C>T" "" "" "" "ALDH7A1(NM_001182.5):c.1317+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720108" "0" "30" "5" "125887806" "125887806" "subst" "2.84502E-5" "02326" "ALDH7A1_000181" "g.125887806A>G" "" "" "" "ALDH7A1(NM_001182.5):c.1224T>C (p.Y408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720109" "0" "30" "5" "125912806" "125912806" "subst" "0.000540058" "02326" "ALDH7A1_000182" "g.125912806G>A" "" "" "" "ALDH7A1(NM_001182.5):c.615C>T (p.N205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720110" "0" "50" "5" "125918662" "125918662" "subst" "0" "02329" "ALDH7A1_000028" "g.125918662G>C" "" "" "" "ALDH7A1(NM_001182.4):c.398C>G (p.S133C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720111" "0" "50" "5" "125930693" "125930693" "subst" "0" "02329" "ALDH7A1_000046" "g.125930693G>A" "" "" "" "ALDH7A1(NM_001182.4):c.192+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786730" "1" "50" "5" "125929108" "125929108" "subst" "4.06177E-6" "00006" "ALDH7A1_000184" "g.125929108A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs770632526" "0" "" "" "g.126593416A>C" "" "VUS" "" "0000786731" "0" "90" "5" "125887751" "125887751" "subst" "0.000369901" "00006" "ALDH7A1_000014" "g.125887751C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.126552059C>G" "" "pathogenic" "" "0000787141" "3" "50" "5" "125882025" "125882025" "subst" "4.0619E-5" "00006" "ALDH7A1_000062" "g.125882025C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs561343926" "0" "" "" "g.126546333C>T" "" "VUS" "" "0000787142" "3" "50" "5" "125880679" "125880679" "subst" "0" "00006" "ALDH7A1_000183" "g.125880679G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.126544987G>T" "" "VUS" "" "0000787198" "3" "50" "5" "125880679" "125880679" "subst" "0" "00006" "ALDH7A1_000183" "g.125880679G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.126544987G>T" "" "VUS" "" "0000787441" "2" "70" "5" "125885891" "125885892" "ins" "2.43906E-5" "00000" "ALDH7A1_000159" "g.125885891_125885892insC" "" "0" "" "" "" "Germline" "" "rs772766995" "0" "" "" "g.126550199_126550200insC" "" "likely pathogenic" "" "0000801831" "0" "90" "5" "125885678" "125885678" "subst" "0" "02327" "ALDH7A1_000069" "g.125885678A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801833" "0" "30" "5" "125911102" "125911102" "subst" "9.36787E-5" "02326" "ALDH7A1_000186" "g.125911102A>G" "" "" "" "ALDH7A1(NM_001182.5):c.695+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850741" "0" "50" "5" "125903984" "125903984" "subst" "1.62427E-5" "01943" "ALDH7A1_000176" "g.125903984T>C" "" "" "" "ALDH7A1(NM_001182.4):c.838A>G (p.K280E), ALDH7A1(NM_001182.5):c.838A>G (p.K280E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859712" "0" "70" "5" "125885627" "125885627" "subst" "0" "02326" "ALDH7A1_000004" "g.125885627C>T" "" "" "" "ALDH7A1(NM_001182.5):c.1483G>A (p.A495T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859713" "0" "50" "5" "125929086" "125929086" "subst" "0.000105618" "01943" "ALDH7A1_000151" "g.125929086G>T" "" "" "" "ALDH7A1(NM_001182.4):c.203C>A (p.T68N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873564" "0" "70" "5" "125887751" "125887751" "subst" "0.000369901" "00000" "ALDH7A1_000014" "g.125887751C>G" "190" "{PMID:Sun 2018:30076350}" "" "ALDH7A1(NM_001182.4):c.1279G>C(p.E427Q)/CDS8-13 deletion" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.126552059C>G" "" "likely pathogenic" "" "0000873565" "0" "70" "5" "0" "0" "" "0" "00000" "RAD50_000000" "g.?" "190" "{PMID:Sun 2018:30076350}" "" "ALDH7A1(NM_001182.4):c.1279G>C(p.E427Q)/CDS8-13 deletion" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000917487" "3" "70" "5" "125885898" "125885898" "subst" "3.25211E-5" "03312" "ALDH7A1_000187" "g.125885898G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.126550206G>A" "" "VUS" "ACMG" "0000918951" "0" "70" "5" "125918666" "125918666" "subst" "0" "01602" "ALDH7A1_000188" "g.125918666C>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000935975" "1" "90" "5" "125882028" "125882028" "subst" "8.12381E-6" "00006" "ALDH7A1_000189" "g.125882028C>G" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline" "" "" "0" "" "" "g.126546336C>G" "" "pathogenic" "" "0000936038" "2" "70" "5" "125882034" "125882034" "subst" "7.31143E-5" "00006" "ALDH7A1_000065" "g.125882034T>C" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline" "" "" "0" "" "" "g.126546342T>C" "" "likely pathogenic" "ACMG" "0000976487" "0" "50" "5" "125912799" "125912799" "subst" "1.21819E-5" "01804" "ALDH7A1_000190" "g.125912799C>T" "" "" "" "ALDH7A1(NM_001182.5):c.622G>A (p.(Ala208Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029780" "21" "90" "5" "125882034" "125882034" "subst" "7.31143E-5" "04459" "ALDH7A1_000065" "g.125882034T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126546342T>C" "" "pathogenic (recessive)" "" "0001029781" "11" "90" "5" "125894975" "125894975" "subst" "5.69342E-5" "04459" "ALDH7A1_000101" "g.125894975G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126559283G>A" "" "pathogenic (recessive)" "" "0001029782" "2" "90" "5" "125929048" "125929048" "subst" "0" "04459" "ALDH7A1_000150" "g.125929048G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126593356G>A" "" "pathogenic (recessive)" "" "0001029783" "1" "90" "5" "125894931" "125894931" "subst" "0" "04459" "ALDH7A1_000191" "g.125894931C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.126559239C>A" "" "pathogenic (recessive)" "" "0001034829" "0" "50" "5" "125882062" "125882062" "subst" "0" "01804" "ALDH7A1_000192" "g.125882062C>G" "" "" "" "ALDH7A1(NM_001182.5):c.1519G>C (p.(Glu507Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034830" "0" "50" "5" "125885945" "125885945" "subst" "4.06455E-6" "01804" "ALDH7A1_000193" "g.125885945T>G" "" "" "" "ALDH7A1(NM_001182.5):c.1358A>C (p.(Gln453Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034831" "0" "90" "5" "125887751" "125887751" "subst" "0.000369901" "01804" "ALDH7A1_000014" "g.125887751C>G" "" "" "" "ALDH7A1(NM_001182.5):c.1279G>C (p.(Glu427Gln), p.E427Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046008" "0" "70" "5" "125887751" "125887751" "subst" "0.000369901" "02325" "ALDH7A1_000014" "g.125887751C>G" "" "" "" "ALDH7A1(NM_001182.5):c.1279G>C (p.(Glu427Gln), p.E427Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052067" "0" "50" "5" "125891616" "125891616" "subst" "2.43746E-5" "01804" "ALDH7A1_000194" "g.125891616T>C" "" "" "" "ALDH7A1(NM_001182.5):c.1093+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052068" "0" "50" "5" "125896815" "125896815" "subst" "4.07349E-6" "01804" "ALDH7A1_000195" "g.125896815C>A" "" "" "" "ALDH7A1(NM_001182.5):c.873G>T (p.(Gly291=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052069" "0" "50" "5" "125911119" "125911119" "subst" "0" "01804" "ALDH7A1_000196" "g.125911119C>T" "" "" "" "ALDH7A1(NM_001182.5):c.688G>A (p.(Val230Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052070" "0" "50" "5" "125928385" "125928385" "subst" "1.6246E-5" "01804" "ALDH7A1_000197" "g.125928385C>T" "" "" "" "ALDH7A1(NM_001182.5):c.283G>A (p.(Ala95Thr))" "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 ALDH7A1 ## Count = 447 "{{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}}" "0000035985" "00002360" "75" "584" "0" "584" "0" "c.584A>G" "r.(?)" "p.(Asn195Ser)" "6" "0000035986" "00002360" "35" "1489" "5" "1489" "5" "c.1489+5G>A" "r.(spl?)" "p.(?)" "16i" "0000079500" "00002360" "00" "-8388608" "0" "2053753" "0" "c.-19786395_*2052133dup" "" "" "" "0000128947" "00002360" "70" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "16" "0000130100" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000130182" "00002360" "70" "1431" "0" "1431" "0" "c.1431dup" "r.(?)" "p.(Cys478Leufs*14)" "" "0000222108" "00002360" "70" "518" "-1" "518" "-1" "c.518-1G>C" "r.spl" "p.?" "" "0000244150" "00002360" "90" "571" "0" "571" "0" "c.571A>G" "r.(?)" "p.(Ile191Val)" "6" "0000246309" "00002360" "10" "273" "0" "273" "0" "c.273T>C" "r.(?)" "p.(Thr91=)" "" "0000246311" "00002360" "10" "518" "-12" "518" "-12" "c.518-12T>G" "r.(=)" "p.(=)" "" "0000250955" "00002360" "10" "273" "0" "273" "0" "c.273T>C" "r.(?)" "p.(Thr91=)" "" "0000250978" "00002360" "10" "518" "-12" "518" "-12" "c.518-12T>G" "r.(=)" "p.(=)" "" "0000251340" "00002360" "10" "872" "-192" "872" "-192" "c.872-192T>C" "r.(=)" "p.(=)" "" "0000251341" "00002360" "10" "393" "94" "393" "94" "c.393+94del" "r.(=)" "p.(=)" "" "0000252093" "00002360" "30" "246" "167" "246" "167" "c.246+167T>A" "r.(=)" "p.(=)" "" "0000257562" "00002360" "50" "1262" "0" "1262" "0" "c.1262C>T" "r.(?)" "p.(Ala421Val)" "" "0000257563" "00002360" "10" "1315" "0" "1315" "0" "c.1315A>C" "r.(?)" "p.(Lys439Gln)" "" "0000257565" "00002360" "10" "-60" "0" "-60" "0" "c.-60G>A" "r.(?)" "p.(=)" "" "0000259024" "00002360" "10" "1094" "-20" "1094" "-20" "c.1094-20C>G" "r.(=)" "p.(=)" "" "0000259027" "00002360" "10" "246" "39" "246" "42" "c.246+39_246+42dup" "r.(=)" "p.(=)" "" "0000259028" "00002360" "10" "246" "35" "246" "42" "c.246+35_246+42dup" "r.(=)" "p.(=)" "" "0000259029" "00002360" "10" "246" "39" "246" "42" "c.246+39_246+42del" "r.(=)" "p.(=)" "" "0000259454" "00002360" "30" "1567" "0" "1567" "0" "c.1567A>G" "r.(?)" "p.(Thr523Ala)" "" "0000259455" "00002360" "30" "246" "41" "246" "42" "c.246+41_246+42dup" "r.(=)" "p.(=)" "" "0000259456" "00002360" "30" "246" "37" "246" "42" "c.246+37_246+42del" "r.(=)" "p.(=)" "" "0000259457" "00002360" "30" "246" "41" "246" "42" "c.246+41_246+42del" "r.(=)" "p.(=)" "" "0000259458" "00002360" "30" "373" "0" "373" "0" "c.373A>G" "r.(?)" "p.(Ile125Val)" "" "0000259459" "00002360" "30" "-34" "0" "-34" "0" "c.-34G>C" "r.(?)" "p.(=)" "" "0000260054" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000260739" "00002360" "90" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Gln)" "" "0000260740" "00002360" "90" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Pro371Leu)" "" "0000260741" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000260742" "00002360" "10" "1315" "0" "1315" "0" "c.1315A>C" "r.(?)" "p.(Lys439Gln)" "" "0000260743" "00002360" "70" "1370" "0" "1370" "0" "c.1370G>T" "r.(?)" "p.(Ser457Ile)" "" "0000260745" "00002360" "70" "1508" "0" "1508" "0" "c.1508G>C" "r.(?)" "p.(Gly503Ala)" "" "0000260746" "00002360" "30" "1567" "0" "1567" "0" "c.1567A>G" "r.(?)" "p.(Thr523Ala)" "" "0000260747" "00002360" "10" "193" "-711" "193" "-711" "c.193-711A>G" "r.(=)" "p.(=)" "" "0000260748" "00002360" "30" "246" "31" "246" "31" "c.246+31G>T" "r.(=)" "p.(=)" "" "0000260749" "00002360" "50" "312" "1" "312" "1" "c.312+1G>A" "r.spl?" "p.?" "" "0000260750" "00002360" "90" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Gln116Ter)" "" "0000260751" "00002360" "90" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "" "0000260752" "00002360" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Leu225=)" "" "0000260753" "00002360" "10" "774" "-256" "774" "-256" "c.774-256C>G" "r.(=)" "p.(=)" "" "0000260754" "00002360" "10" "914" "-100" "914" "-100" "c.914-100C>A" "r.(=)" "p.(=)" "" "0000260755" "00002360" "30" "914" "-93" "914" "-93" "c.914-93C>A" "r.(=)" "p.(=)" "" "0000260756" "00002360" "10" "914" "-94" "914" "-94" "c.914-94C>A" "r.(=)" "p.(=)" "" "0000260757" "00002360" "10" "914" "-99" "914" "-99" "c.914-99C>A" "r.(=)" "p.(=)" "" "0000262218" "00002360" "30" "1305" "0" "1305" "0" "c.1305C>G" "r.(?)" "p.(Val435=)" "" "0000262219" "00002360" "10" "-60" "0" "-60" "0" "c.-60G>A" "r.(?)" "p.(=)" "" "0000262220" "00002360" "50" "632" "0" "632" "0" "c.632G>T" "r.(?)" "p.(Cys211Phe)" "" "0000345411" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000350866" "00002360" "90" "1489" "5" "1489" "5" "c.1489+5G>A" "r.spl?" "p.?" "" "0000357984" "00002360" "30" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Pro25Ser)" "" "0000404709" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "3" "0000404710" "00002360" "70" "664" "0" "664" "0" "c.664A>G" "r.(?)" "p.(Thr222Ala)" "6" "0000404734" "00002360" "90" "1566" "-1" "1566" "-1" "c.1566-1G>T" "r.spl" "p.?" "9i" "0000486676" "00002360" "77" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358*)" "12" "0000498198" "00002360" "90" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Gly111Glu)" "" "0000498199" "00002360" "90" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Pro431Leu)" "" "0000498200" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498201" "00002360" "90" "1489" "5" "1489" "5" "c.1489+5G>A" "r.spl?" "p.?" "" "0000498202" "00002360" "90" "246" "1" "246" "1" "c.246+1G>A" "r.spl" "p.?" "" "0000498203" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498204" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498205" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498206" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498207" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498208" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498209" "00002360" "90" "1301" "0" "1302" "0" "c.1301_1302del" "r.(?)" "p.(Tyr434Cysfs*3)" "" "0000498210" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498211" "00002360" "90" "1375" "0" "1375" "0" "c.1375A>T" "r.(?)" "p.(Ile459Phe)" "" "0000498212" "00002360" "90" "503" "0" "506" "0" "c.503_506del" "r.(?)" "p.(Ile168Serfs*10)" "" "0000498213" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498214" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498215" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498216" "00002360" "90" "1093" "1" "1093" "1" "c.1093+1G>A" "r.spl" "p.?" "" "0000498217" "00002360" "90" "1344" "0" "1344" "0" "c.1344T>A" "r.(?)" "p.(Asn448Lys)" "" "0000498218" "00002360" "90" "192" "2" "192" "2" "c.192+2T>G" "r.spl" "p.?" "" "0000498219" "00002360" "90" "651" "-1" "695" "1" "c.(650+1_651-1)_(695+1_696-1)del" "r.spl" "p.?" "6i_7i" "0000498220" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498221" "00002360" "90" "532" "0" "542" "0" "c.532_542del" "r.(?)" "p.(Leu178Valfs*46)" "" "0000498222" "00002360" "90" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Pro431Leu)" "" "0000498223" "00002360" "90" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Ser317Leu)" "" "0000498224" "00002360" "90" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Gly274Glu)" "" "0000498225" "00002360" "90" "1232" "0" "1232" "0" "c.1232C>G" "r.(?)" "p.(Pro411Arg)" "" "0000498226" "00002360" "90" "312" "1" "312" "1" "c.312+1G>A" "r.spl" "p.?" "" "0000498227" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498228" "00002360" "90" "517" "5" "517" "5" "c.517+5G>A" "r.spl?" "p.?" "" "0000498229" "00002360" "90" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Gln)" "" "0000498230" "00002360" "90" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Gly111Glu)" "" "0000498231" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498232" "00002360" "90" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Pro431Leu)" "" "0000498233" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498234" "00002360" "90" "664" "0" "664" "0" "c.664A>G" "r.(?)" "p.(Thr222Ala)" "" "0000498235" "00002360" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Gly202Asp)" "" "0000498236" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498237" "00002360" "90" "394" "-1" "394" "-1" "c.394-1G>C" "r.spl" "p.?" "" "0000498238" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498239" "00002360" "90" "1566" "-1" "1566" "-1" "c.1566-1G>T" "r.spl" "p.?" "" "0000498240" "00002360" "90" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Pro431Leu)" "" "0000498241" "00002360" "90" "1301" "0" "1302" "0" "c.1301_1302del" "r.(?)" "p.(Tyr434Cysfs*3)" "" "0000498242" "00002360" "90" "1364" "0" "1364" "0" "c.1364T>C" "r.(?)" "p.(Leu455Pro)" "" "0000498243" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498244" "00002360" "90" "871" "1" "871" "1" "c.871+1G>A" "r.spl" "p.?" "" "0000498245" "00002360" "90" "503" "0" "506" "0" "c.503_506del" "r.(?)" "p.(Ile168Serfs*10)" "" "0000498246" "00002360" "90" "1566" "-1" "1566" "-1" "c.1566-1G>T" "r.spl" "p.?" "" "0000498247" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498248" "00002360" "90" "1548" "0" "1548" "0" "c.1548C>A" "r.(?)" "p.(Tyr516*)" "" "0000498249" "00002360" "90" "1427" "0" "1427" "0" "c.1427C>G" "r.(?)" "p.(Ser476*)" "" "0000498250" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498251" "00002360" "90" "974" "0" "974" "0" "c.974C>G" "r.(?)" "p.(Thr325Arg)" "" "0000498252" "00002360" "90" "481" "0" "481" "0" "c.481T>C" "r.(?)" "p.(Ser161Pro)" "" "0000498253" "00002360" "90" "1367" "0" "1367" "0" "c.1367C>G" "r.(?)" "p.(Ser456*)" "" "0000498254" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498255" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498256" "00002360" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Gly283Asp)" "" "0000498257" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498258" "00002360" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Gly202Asp)" "" "0000498259" "00002360" "90" "1262" "0" "1262" "0" "c.1262C>T" "r.(?)" "p.(Ala421Val)" "" "0000498260" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498261" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498262" "00002360" "90" "517" "5" "517" "5" "c.517+5G>A" "r.spl?" "p.?" "" "0000498263" "00002360" "90" "1489" "5" "1489" "5" "c.1489+5G>A" "r.spl?" "p.?" "" "0000498264" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498265" "00002360" "90" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Ala467Thr)" "" "0000498266" "00002360" "90" "1200" "1" "1200" "1" "c.1200+1G>T" "r.spl" "p.?" "" "0000498267" "00002360" "90" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "" "0000498268" "00002360" "90" "503" "0" "506" "0" "c.503_506del" "r.(?)" "p.(Ile168Serfs*10)" "" "0000498269" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498270" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498271" "00002360" "90" "1566" "-1" "1566" "-1" "c.1566-1G>T" "r.spl" "p.?" "" "0000498272" "00002360" "90" "1489" "5" "1489" "5" "c.1489+5G>A" "r.spl?" "p.?" "" "0000498273" "00002360" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "" "0000498274" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498275" "00002360" "90" "1566" "-1" "1566" "-1" "c.1566-1G>T" "r.spl" "p.?" "" "0000498276" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498277" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498278" "00002360" "90" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Ala322Val)" "" "0000498279" "00002360" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Gln281*)" "" "0000498280" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498281" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498282" "00002360" "90" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Gly165Glu)" "" "0000498283" "00002360" "90" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Gly111Glu)" "" "0000498284" "00002360" "90" "664" "0" "664" "0" "c.664A>G" "r.(?)" "p.(Thr222Ala)" "" "0000498285" "00002360" "90" "1281" "0" "1281" "0" "c.1281G>T" "r.(?)" "p.(Glu427Asp)" "" "0000498286" "00002360" "90" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Pro431Leu)" "" "0000498287" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498288" "00002360" "90" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Gly63*)" "" "0000498289" "00002360" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Trp)" "" "0000498290" "00002360" "90" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Arg469His)" "" "0000498291" "00002360" "90" "1183" "0" "1183" "0" "c.1183G>A" "r.(?)" "p.(Val395Met)" "" "0000498292" "00002360" "90" "119" "0" "119" "0" "c.119C>G" "r.(?)" "p.(Ala40Gly)" "" "0000498293" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498294" "00002360" "90" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Thr192Met)" "" "0000498295" "00002360" "90" "460" "0" "460" "0" "c.460T>C" "r.(?)" "p.(Cys154Arg)" "" "0000498296" "00002360" "90" "651" "-1" "695" "1" "c.(650+1_651-1)_(695+1_696-1)del" "r.spl" "p.?" "6i_7i" "0000498297" "00002360" "90" "1566" "-1" "1566" "-1" "c.1566-1G>C" "r.spl" "p.?" "" "0000498298" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498299" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498300" "00002360" "90" "1432" "0" "1432" "0" "c.1432T>A" "r.(?)" "p.(Cys478Ser)" "" "0000498301" "00002360" "90" "1489" "5" "1489" "5" "c.1489+5G>A" "r.spl?" "p.?" "" "0000498302" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498303" "00002360" "90" "517" "5" "517" "5" "c.517+5G>A" "r.spl?" "p.?" "" "0000498304" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498305" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498306" "00002360" "90" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "" "0000498307" "00002360" "90" "1480" "0" "1480" "0" "c.1480G>C" "r.(?)" "p.(Gly494Arg)" "" "0000498308" "00002360" "90" "192" "2" "192" "2" "c.192+2dup" "r.spl?" "p.?" "" "0000498309" "00002360" "90" "1597" "0" "1597" "0" "c.1597del" "r.(?)" "p.(Ala533Profs*18)" "" "0000498310" "00002360" "90" "1566" "-1" "1566" "-1" "c.1566-1G>C" "r.spl" "p.?" "" "0000498311" "00002360" "90" "313" "-1" "393" "1" "c.(312+1_313-1)_(393+1_394-1)del" "r.spl" "p.?" "3i_4i" "0000498312" "00002360" "90" "1566" "-1" "1566" "-1" "c.1566-1G>T" "r.spl" "p.?" "" "0000498313" "00002360" "90" "1566" "-1" "1566" "-1" "c.1566-1G>T" "r.spl" "p.?" "" "0000498314" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498315" "00002360" "90" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Ala322Val)" "" "0000498316" "00002360" "90" "936" "0" "940" "0" "c.936_940del" "r.(?)" "p.(Leu313Cysfs*26)" "" "0000498317" "00002360" "90" "1314" "0" "1314" "0" "c.1314C>A" "r.(?)" "p.(Phe438Leu)" "" "0000498318" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498319" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498320" "00002360" "90" "664" "0" "664" "0" "c.664A>G" "r.(?)" "p.(Thr222Ala)" "" "0000498321" "00002360" "90" "246" "1" "246" "1" "c.246+1G>A" "r.spl" "p.?" "" "0000498322" "00002360" "90" "1547" "0" "1547" "0" "c.1547A>G" "r.(?)" "p.(Tyr516Cys)" "" "0000498323" "00002360" "90" "871" "5" "871" "5" "c.871+5G>A" "r.spl" "p.?" "" "0000498324" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498325" "00002360" "90" "651" "-1" "695" "1" "c.(650+1_651-1)_(695+1_696-1)del" "r.spl" "p.?" "6i_7i" "0000498326" "00002360" "90" "1375" "0" "1375" "0" "c.1375A>T" "r.(?)" "p.(Ile459Phe)" "" "0000498327" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498328" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498329" "00002360" "90" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(Tyr156Cys)" "" "0000498330" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498331" "00002360" "90" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Gln328*)" "" "0000498332" "00002360" "90" "1335" "0" "1335" "0" "c.1335delinsAAA" "r.(?)" "p.(Phe445Leufs*8)" "" "0000498333" "00002360" "90" "1490" "-1" "1621" "0" "c.(1489+1_1490-1)_(*1_?)del" "r.spl" "p.?" "16i_18_" "0000498334" "00002360" "90" "586" "0" "586" "0" "c.586T>A" "r.(?)" "p.(Phe196Ile)" "" "0000498335" "00002360" "90" "518" "-1" "650" "1" "c.(517+1_518-1)_(650+1_651-1)del" "r.spl" "p.?" "5i_6i" "0000498336" "00002360" "90" "876" "0" "877" "0" "c.876_877dup" "r.(?)" "p.(Ser293Lysfs*22)" "" "0000498337" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498338" "00002360" "90" "902" "0" "902" "0" "c.902A>T" "r.(?)" "p.(Asn301Ile)" "" "0000498339" "00002360" "90" "1547" "0" "1547" "0" "c.1547A>G" "r.(?)" "p.(Tyr516Cys)" "" "0000498340" "00002360" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81*)" "" "0000498341" "00002360" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "" "0000498342" "00002360" "90" "518" "-1" "518" "-1" "c.518-1G>C" "r.spl" "p.?" "" "0000498343" "00002360" "90" "1412" "0" "1415" "9" "c.1412_1415+9delinsGTTGGG" "r.spl" "p.?" "" "0000498344" "00002360" "90" "415" "0" "415" "0" "c.415del" "r.(?)" "p.(Ile139Serfs*2)" "" "0000498345" "00002360" "90" "518" "-1" "518" "-1" "c.518-1G>C" "r.spl" "p.?" "" "0000498346" "00002360" "90" "696" "-502" "696" "-502" "c.696-502G>C" "r.spl" "p.(=)" "" "0000498347" "00002360" "90" "1412" "0" "1415" "9" "c.1412_1415+9delinsGTTGGG" "r.spl" "p.?" "" "0000498348" "00002360" "90" "1578" "0" "1582" "0" "c.1578_1582del" "r.(?)" "p.(Tyr526*)" "" "0000498349" "00002360" "90" "312" "1" "312" "1" "c.312+1G>A" "r.spl" "p.?" "" "0000498350" "00002360" "90" "394" "-1" "394" "-1" "c.394-1G>A" "r.spl" "p.?" "" "0000498351" "00002360" "90" "1358" "0" "1359" "0" "c.1358_1359del" "r.(?)" "p.(Gln453Argfs*5)" "" "0000498352" "00002360" "90" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Glu149Lys)" "" "0000498353" "00002360" "90" "1597" "0" "1597" "0" "c.1597del" "r.(?)" "p.(Ala533Profs*18)" "" "0000498354" "00002360" "90" "902" "0" "902" "0" "c.902A>T" "r.(?)" "p.(Asn301Ile)" "" "0000498355" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498356" "00002360" "90" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "" "0000498357" "00002360" "90" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Gln)" "" "0000498358" "00002360" "90" "1301" "0" "1302" "0" "c.1301_1302del" "r.(?)" "p.(Tyr434Cysfs*3)" "" "0000498359" "00002360" "90" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "" "0000498360" "00002360" "90" "1490" "-1" "1621" "0" "c.(1489+1_1490-1)_(*1_?)del" "r.spl" "p.?" "16i_18_" "0000498361" "00002360" "90" "1416" "-1" "1565" "1" "c.(1415+1_1416-1)_(1565+1_1566-1)del" "r.spl" "p.?" "15i_17i" "0000498362" "00002360" "90" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Lys)" "" "0000498363" "00002360" "90" "947" "0" "947" "0" "c.947del" "r.(?)" "p.(Pro316Hisfs*32)" "" "0000498364" "00002360" "90" "774" "-1095" "800" "0" "c.774-1095_800delinsG" "r.spl" "p.?" "" "0000498365" "00002360" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "" "0000498366" "00002360" "90" "902" "0" "902" "0" "c.902A>T" "r.(?)" "p.(Asn301Ile)" "" "0000498367" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498368" "00002360" "90" "312" "1" "312" "1" "c.312+1G>A" "r.spl" "p.?" "" "0000498369" "00002360" "90" "1370" "0" "1370" "0" "c.1370G>T" "r.(?)" "p.(Ser457Ile)" "" "0000498370" "00002360" "90" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Gly299Arg)" "" "0000498371" "00002360" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Gln148*)" "" "0000498372" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498373" "00002360" "90" "247" "-1" "247" "-1" "c.247-1G>C" "r.spl" "p.?" "" "0000498374" "00002360" "90" "1335" "0" "1335" "0" "c.1335delinsAAA" "r.(?)" "p.(Phe445Leufs*8)" "" "0000498375" "00002360" "90" "529" "0" "529" "0" "c.529G>C" "r.(?)" "p.(Ala177Pro)" "" "0000498376" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498377" "00002360" "90" "651" "-3" "651" "-1" "c.651-3_651-1del" "r.spl" "p.?" "" "0000498378" "00002360" "90" "517" "5" "517" "5" "c.517+5G>A" "r.spl?" "p.?" "" "0000498379" "00002360" "90" "1597" "0" "1597" "0" "c.1597del" "r.(?)" "p.(Ala533Profs*18)" "" "0000498380" "00002360" "90" "1547" "0" "1547" "0" "c.1547A>G" "r.(?)" "p.(Tyr516Cys)" "" "0000498381" "00002360" "90" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Ala322Val)" "" "0000498382" "00002360" "90" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Lys)" "" "0000498383" "00002360" "90" "530" "0" "530" "0" "c.530C>A" "r.(?)" "p.(Ala177Glu)" "" "0000498384" "00002360" "90" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asp308Gly)" "" "0000498385" "00002360" "90" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335*)" "" "0000498386" "00002360" "90" "530" "0" "530" "0" "c.530C>A" "r.(?)" "p.(Ala177Glu)" "" "0000498387" "00002360" "90" "774" "-1095" "800" "0" "c.774-1095_800delinsG" "r.spl" "p.?" "" "0000498388" "00002360" "90" "696" "-1" "696" "-1" "c.696-1G>T" "r.spl" "p.?" "" "0000498389" "00002360" "90" "584" "0" "584" "0" "c.584A>G" "r.(?)" "p.(Asn195Ser)" "" "0000498390" "00002360" "90" "1565" "1" "1565" "1" "c.1565+1G>T" "r.spl" "p.?" "" "0000498391" "00002360" "90" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358*)" "" "0000498392" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498393" "00002360" "90" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Thr192Met)" "" "0000498394" "00002360" "90" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Gly489Glu)" "" "0000498395" "00002360" "90" "1543" "0" "1555" "0" "c.1543_1555dup" "r.(?)" "p.(Arg519Thrfs*14)" "" "0000498396" "00002360" "90" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Pro431Leu)" "" "0000498397" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498398" "00002360" "90" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Gly398Arg)" "" "0000498399" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498400" "00002360" "90" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Gln453Arg)" "" "0000498401" "00002360" "90" "191" "0" "191" "0" "c.191del" "r.(?)" "p.(Glu64Glyfs*14)" "" "0000498402" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498403" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498404" "00002360" "90" "1370" "0" "1370" "0" "c.1370G>T" "r.(?)" "p.(Ser457Ile)" "" "0000498405" "00002360" "90" "518" "-1" "650" "1" "c.(517+1_518-1)_(650+1_651-1)del" "r.spl" "p.?" "5i_6i" "0000498406" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498407" "00002360" "90" "696" "-502" "696" "-502" "c.696-502G>C" "r.spl" "p.(=)" "" "0000498408" "00002360" "90" "774" "-1095" "800" "0" "c.774-1095_800delinsG" "r.spl" "p.?" "" "0000498409" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498410" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498411" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498412" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498413" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498414" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498415" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498416" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498417" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498418" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498419" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498420" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498421" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498422" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498423" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498424" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498425" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498426" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498427" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498428" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498429" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498430" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498431" "00002360" "90" "584" "0" "584" "0" "c.584A>G" "r.(?)" "p.(Asn195Ser)" "" "0000498432" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498433" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498434" "00002360" "90" "664" "0" "664" "0" "c.664A>G" "r.(?)" "p.(Thr222Ala)" "" "0000498435" "00002360" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Gly202Asp)" "" "0000498436" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498437" "00002360" "90" "773" "5" "773" "5" "c.773+5G>A" "r.spl" "p.?" "" "0000498438" "00002360" "90" "1565" "1" "1565" "1" "c.1565+1G>T" "r.spl" "p.?" "" "0000498439" "00002360" "90" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Thr192Met)" "" "0000498440" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498441" "00002360" "50" "193" "-9" "193" "-9" "c.193-9T>C" "r.spl" "p.(=)" "" "0000498442" "00002360" "50" "193" "-15" "193" "-15" "c.193-15T>C" "r.spl" "p.(=)" "" "0000498443" "00002360" "90" "530" "0" "530" "0" "c.530C>A" "r.(?)" "p.(Ala177Glu)" "" "0000498444" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498445" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498446" "00002360" "90" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "" "0000498447" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498448" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498449" "00002360" "50" "193" "-9" "193" "-9" "c.193-9T>C" "r.spl" "p.(=)" "" "0000498450" "00002360" "50" "193" "-15" "193" "-15" "c.193-15T>C" "r.spl" "p.(=)" "" "0000498451" "00002360" "90" "1205" "0" "1206" "0" "c.1205_1206insA" "r.(?)" "p.(Met402Ilefs*36)" "" "0000498452" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498453" "00002360" "90" "1280" "0" "1280" "0" "c.1280A>G" "r.(?)" "p.(Glu427Gly)" "" "0000498454" "00002360" "90" "902" "0" "902" "0" "c.902A>T" "r.(?)" "p.(Asn301Ile)" "" "0000498455" "00002360" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "" "0000498456" "00002360" "90" "584" "0" "584" "0" "c.584A>G" "r.(?)" "p.(Asn195Ser)" "" "0000498457" "00002360" "90" "1480" "0" "1480" "0" "c.1480G>C" "r.(?)" "p.(Gly494Arg)" "" "0000498458" "00002360" "90" "974" "0" "974" "0" "c.974C>A" "r.(?)" "p.(Thr325Lys)" "" "0000498459" "00002360" "90" "1480" "0" "1480" "0" "c.1480G>C" "r.(?)" "p.(Gly494Arg)" "" "0000498460" "00002360" "90" "974" "0" "974" "0" "c.974C>A" "r.(?)" "p.(Thr325Lys)" "" "0000498461" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498462" "00002360" "90" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "" "0000498463" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498464" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498465" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498466" "00002360" "90" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "" "0000498467" "00002360" "90" "312" "1" "312" "1" "c.312+1G>A" "r.spl" "p.?" "" "0000498468" "00002360" "90" "312" "1" "312" "1" "c.312+1G>A" "r.spl" "p.?" "" "0000498469" "00002360" "90" "1480" "0" "1480" "0" "c.1480G>C" "r.(?)" "p.(Gly494Arg)" "" "0000498470" "00002360" "90" "974" "0" "974" "0" "c.974C>A" "r.(?)" "p.(Thr325Lys)" "" "0000498471" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498472" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498473" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498474" "00002360" "90" "1566" "-1" "1566" "-1" "c.1566-1G>T" "r.spl" "p.?" "" "0000498475" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498476" "00002360" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "" "0000498477" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498478" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "" "0000498479" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498480" "00002360" "90" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Pro371Leu)" "" "0000498481" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "" "0000498482" "00002360" "90" "826" "0" "826" "0" "c.826A>C" "r.(?)" "p.(Thr276Pro)" "" "0000498483" "00002360" "90" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Gln)" "" "0000498484" "00002360" "90" "1093" "1" "1093" "1" "c.1093+1G>A" "r.spl" "p.?" "" "0000498485" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498486" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000498487" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498488" "00002360" "90" "651" "-3" "651" "-1" "c.651-3_651-1del" "r.spl" "p.?" "" "0000498489" "00002360" "90" "834" "0" "834" "0" "c.834G>A" "r.spl?" "p.(Val278=)" "" "0000498490" "00002360" "90" "651" "-3" "651" "-1" "c.651-3_651-1del" "r.spl" "p.?" "" "0000498493" "00002360" "70" "1314" "0" "1314" "0" "c.1314C>A" "r.(?)" "p.Phe438Leu" "" "0000498494" "00002360" "70" "1184" "0" "1184" "0" "c.1184T>G" "r.(?)" "p.Val395Gly" "" "0000498495" "00002360" "30" "1432" "0" "1432" "0" "c.1432T>A" "r.(?)" "p.Cys478Ser" "" "0000498496" "00002360" "70" "1184" "0" "1184" "0" "c.1184T>G" "r.(?)" "p.Val395Gly" "" "0000498497" "00002360" "70" "1314" "0" "1314" "0" "c.1314C>A" "r.(?)" "p.Phe438Leu" "" "0000498498" "00002360" "70" "1432" "0" "1432" "0" "c.1432T>A" "r.(?)" "p.Cys478Ser" "" "0000498499" "00002360" "70" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.Gly274Glu" "" "0000498500" "00002360" "70" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.His339Arg" "" "0000498501" "00002360" "70" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.Ala533Thr" "" "0000498502" "00002360" "70" "1547" "0" "1547" "0" "c.1547A>G" "r.(?)" "p.Tyr516Cys" "" "0000498503" "00002360" "70" "203" "0" "203" "0" "c.203C>A" "r.(?)" "p.Thr68Asn" "" "0000498504" "00002360" "30" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.Ser317Leu" "" "0000498505" "00002360" "30" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.Arg122Trp" "" "0000498506" "00002360" "30" "1010" "0" "1010" "0" "c.1010T>G" "r.(?)" "p.Phe337Cys" "" "0000498507" "00002360" "90" "1224" "0" "1224" "0" "c.1224T>G" "r.(?)" "p.Tyr408*" "" "0000498508" "00002360" "90" "1597" "0" "1597" "0" "c.1597del" "r.(?)" "p.Ala533Profs*" "" "0000498509" "00002360" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.Gly505Arg" "" "0000498510" "00002360" "90" "1375" "0" "1375" "0" "c.1375A>T" "r.(?)" "p.Ile459Phe" "" "0000498511" "00002360" "90" "1280" "0" "1280" "0" "c.1280A>G" "r.(?)" "p.Glu427Gly" "" "0000498512" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.Glu427Gln" "" "0000498513" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.Glu427Gln" "" "0000498514" "00002360" "90" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.Arg335Gln" "" "0000498515" "00002360" "90" "974" "0" "974" "0" "c.974C>G" "r.(?)" "p.Thr325Arg" "" "0000498516" "00002360" "90" "974" "0" "974" "0" "c.974C>A" "r.(?)" "p.Thr325Lys" "" "0000498517" "00002360" "90" "902" "0" "902" "0" "c.902A>T" "r.(?)" "p.Asn301Ile" "" "0000498518" "00002360" "90" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.Gly283Asp" "" "0000498519" "00002360" "90" "530" "0" "530" "0" "c.530C>A" "r.(?)" "p.Ala177Glu" "" "0000498520" "00002360" "90" "494" "0" "494" "0" "c.494G>T" "-" "p.Gln165Val" "" "0000498521" "00002360" "90" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.Gly111Glu" "" "0000498522" "00002360" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.Arg110*" "" "0000498523" "00002360" "90" "1373" "0" "1373" "0" "c.1373G>A" "r.(?)" "p.Ser458Asn" "" "0000498524" "00002360" "90" "469" "0" "469" "0" "c.469G>C" "r.(?)" "p.Ala157Pro" "" "0000498525" "00002360" "90" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.Gln166Val" "" "0000498526" "00002360" "90" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.Ala199Val" "" "0000498527" "00002360" "90" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.Ala199Val" "" "0000498528" "00002360" "90" "607" "0" "607" "0" "c.607T>G" "r.(?)" "p.Trp203Gly" "" "0000498529" "00002360" "90" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.Gly291Glu" "" "0000523933" "00002360" "30" "1567" "0" "1567" "0" "c.1567A>G" "r.(?)" "p.(Thr523Ala)" "" "0000523934" "00002360" "70" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "" "0000523935" "00002360" "50" "1411" "0" "1412" "0" "c.1411_1412insG" "r.(?)" "p.(Leu471ArgfsTer4)" "" "0000523936" "00002360" "50" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Arg469His)" "" "0000523938" "00002360" "10" "1263" "0" "1263" "0" "c.1263G>A" "r.(?)" "p.(Ala421=)" "" "0000523939" "00002360" "10" "1234" "0" "1234" "0" "c.1234A>G" "r.(?)" "p.(Thr412Ala)" "" "0000523940" "00002360" "10" "1094" "-40" "1094" "-40" "c.1094-40A>T" "r.(=)" "p.(=)" "" "0000523941" "00002360" "50" "1061" "0" "1061" "0" "c.1061A>T" "r.(?)" "p.(Tyr354Phe)" "" "0000523942" "00002360" "10" "1009" "-6" "1009" "-6" "c.1009-6G>A" "r.(=)" "p.(=)" "" "0000523943" "00002360" "10" "872" "-5" "872" "-5" "c.872-5T>A" "r.spl?" "p.?" "" "0000523944" "00002360" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Leu225=)" "" "0000523945" "00002360" "50" "544" "0" "544" "0" "c.544T>C" "r.(?)" "p.(Trp182Arg)" "" "0000523946" "00002360" "50" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Ala177Val)" "" "0000523947" "00002360" "50" "442" "0" "442" "0" "c.442C>G" "r.(?)" "p.(Gln148Glu)" "" "0000523948" "00002360" "50" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Ala98Thr)" "" "0000523949" "00002360" "10" "246" "37" "246" "42" "c.246+37_246+42dup" "r.(=)" "p.(=)" "" "0000523950" "00002360" "10" "193" "-98" "193" "-98" "c.193-98A>G" "r.(=)" "p.(=)" "" "0000523951" "00002360" "10" "39" "0" "39" "0" "c.39A>G" "r.(?)" "p.(Ala13=)" "" "0000609417" "00002360" "10" "1415" "85" "1415" "85" "c.1415+85A>C" "r.(=)" "p.(=)" "" "0000621455" "00002360" "50" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Lys280Glu)" "" "0000651564" "00002360" "50" "1567" "0" "1567" "0" "c.1567A>G" "r.(?)" "p.(Thr523Ala)" "" "0000651565" "00002360" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Lys)" "" "0000651566" "00002360" "30" "518" "-12" "518" "-12" "c.518-12T>G" "r.(=)" "p.(=)" "" "0000689402" "00002360" "50" "1415" "10" "1415" "10" "c.1415+10T>C" "r.(=)" "p.(=)" "" "0000689404" "00002360" "50" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Cys211Tyr)" "" "0000720107" "00002360" "30" "1317" "20" "1317" "20" "c.1317+20G>A" "r.(=)" "p.(=)" "" "0000720108" "00002360" "30" "1224" "0" "1224" "0" "c.1224T>C" "r.(?)" "p.(Tyr408=)" "" "0000720109" "00002360" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Asn205=)" "" "0000720110" "00002360" "50" "398" "0" "398" "0" "c.398C>G" "r.(?)" "p.(Ser133Cys)" "" "0000720111" "00002360" "50" "192" "6" "192" "6" "c.192+6C>T" "r.(=)" "p.(=)" "" "0000786730" "00002360" "50" "193" "-12" "193" "-12" "c.193-12T>G" "r.spl" "p.?" "1i" "0000786731" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "14" "0000787141" "00002360" "50" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Lys)" "17" "0000787142" "00002360" "50" "1598" "0" "1598" "0" "c.1598C>A" "r.(?)" "p.(Ala533Asp)" "18" "0000787198" "00002360" "50" "1598" "0" "1598" "0" "c.1598C>A" "r.(?)" "p.(Ala533Asp)" "18" "0000787441" "00002360" "70" "1411" "0" "1412" "0" "c.1411_1412insG" "r.(?)" "p.(Leu471ArgfsTer4)" "15" "0000801831" "00002360" "90" "1432" "0" "1432" "0" "c.1432T>A" "r.(?)" "p.(Cys478Ser)" "" "0000801833" "00002360" "30" "695" "10" "695" "10" "c.695+10T>C" "r.(=)" "p.(=)" "" "0000850741" "00002360" "50" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Lys280Glu)" "" "0000859712" "00002360" "70" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "" "0000859713" "00002360" "50" "203" "0" "203" "0" "c.203C>A" "r.(?)" "p.(Thr68Asn)" "" "0000873564" "00002360" "70" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0000873565" "00002360" "70" "" "0" "" "0" "c.(695+1_696-1)_(1200+1_1201-1" "r.(?)" "p.(?)" "" "0000917487" "00002360" "70" "1405" "0" "1405" "0" "c.1405C>T" "r.(1405c>u)" "p.(Arg469Cys)" "" "0000918951" "00002360" "70" "394" "0" "394" "0" "c.394G>T" "r.(?)" "p.(Val132Leu)" "" "0000935975" "00002360" "90" "1553" "0" "1553" "0" "c.1553G>C" "r.(?)" "p.(Arg518Thr)" "" "0000936038" "00002360" "70" "1547" "0" "1547" "0" "c.1547A>G" "r.(?)" "p.(Tyr516Cys)" "" "0000976487" "00002360" "50" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0001029780" "00002360" "90" "1547" "0" "1547" "0" "c.1547A>G" "r.(?)" "p.(Tyr516Cys)" "" "0001029781" "00002360" "90" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Ala322Val)" "" "0001029782" "00002360" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81*)" "" "0001029783" "00002360" "90" "1008" "1" "1008" "1" "c.1008+1G>T" "r.spl" "p.?" "" "0001034829" "00002360" "50" "1519" "0" "1519" "0" "c.1519G>C" "r.(?)" "p.(Glu507Gln)" "" "0001034830" "00002360" "50" "1358" "0" "1358" "0" "c.1358A>C" "r.(?)" "p.(Gln453Pro)" "" "0001034831" "00002360" "90" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0001046008" "00002360" "70" "1279" "0" "1279" "0" "c.1279G>C" "r.(?)" "p.(Glu427Gln)" "" "0001052067" "00002360" "50" "1093" "7" "1093" "7" "c.1093+7A>G" "r.(=)" "p.(=)" "" "0001052068" "00002360" "50" "873" "0" "873" "0" "c.873G>T" "r.(?)" "p.(=)" "" "0001052069" "00002360" "50" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0001052070" "00002360" "50" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Ala95Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 325 "{{screeningid}}" "{{variantid}}" "0000016247" "0000035985" "0000016247" "0000035986" "0000050520" "0000079500" "0000080070" "0000128947" "0000080070" "0000222108" "0000081014" "0000130100" "0000081096" "0000130182" "0000150994" "0000244150" "0000156093" "0000357984" "0000181073" "0000404709" "0000181073" "0000404734" "0000181074" "0000404710" "0000240893" "0000486676" "0000245989" "0000498198" "0000245989" "0000498199" "0000245990" "0000498200" "0000245990" "0000498201" "0000245991" "0000498202" "0000245992" "0000498203" "0000245992" "0000498204" "0000245993" "0000498205" "0000245993" "0000498206" "0000245994" "0000498207" "0000245994" "0000498208" "0000245995" "0000498209" "0000245996" "0000498210" "0000245996" "0000498211" "0000245997" "0000498212" "0000245997" "0000498213" "0000245998" "0000498214" "0000245998" "0000498215" "0000245999" "0000498216" "0000246000" "0000498217" "0000246000" "0000498218" "0000246001" "0000498219" "0000246002" "0000498220" "0000246002" "0000498221" "0000246003" "0000498222" "0000246004" "0000498223" "0000246004" "0000498224" "0000246005" "0000498225" "0000246005" "0000498226" "0000246006" "0000498227" "0000246006" "0000498228" "0000246007" "0000498229" "0000246008" "0000498230" "0000246008" "0000498231" "0000246009" "0000498232" "0000246009" "0000498233" "0000246010" "0000498234" "0000246010" "0000498235" "0000246011" "0000498236" "0000246011" "0000498237" "0000246012" "0000498238" "0000246012" "0000498239" "0000246013" "0000498240" "0000246014" "0000498241" "0000246014" "0000498242" "0000246015" "0000498243" "0000246015" "0000498244" "0000246016" "0000498245" "0000246016" "0000498246" "0000246017" "0000498247" "0000246017" "0000498248" "0000246018" "0000498249" "0000246018" "0000498250" "0000246019" "0000498251" "0000246019" "0000498252" "0000246020" "0000498253" "0000246020" "0000498254" "0000246021" "0000498255" "0000246021" "0000498256" "0000246022" "0000498257" "0000246022" "0000498258" "0000246023" "0000498259" "0000246023" "0000498260" "0000246024" "0000498261" "0000246025" "0000498262" "0000246025" "0000498263" "0000246026" "0000498264" "0000246026" "0000498265" "0000246027" "0000498266" "0000246027" "0000498267" "0000246028" "0000498268" "0000246028" "0000498269" "0000246029" "0000498270" "0000246030" "0000498271" "0000246030" "0000498272" "0000246031" "0000498273" "0000246031" "0000498274" "0000246032" "0000498275" "0000246032" "0000498276" "0000246033" "0000498277" "0000246034" "0000498278" "0000246034" "0000498279" "0000246035" "0000498280" "0000246035" "0000498281" "0000246036" "0000498282" "0000246036" "0000498283" "0000246037" "0000498284" "0000246037" "0000498285" "0000246038" "0000498286" "0000246038" "0000498287" "0000246039" "0000498288" "0000246039" "0000498289" "0000246040" "0000498290" "0000246041" "0000498291" "0000246041" "0000498292" "0000246042" "0000498293" "0000246043" "0000498294" "0000246044" "0000498295" "0000246045" "0000498296" "0000246046" "0000498297" "0000246047" "0000498298" "0000246048" "0000498299" "0000246048" "0000498300" "0000246049" "0000498301" "0000246049" "0000498302" "0000246050" "0000498303" "0000246051" "0000498304" "0000246051" "0000498305" "0000246052" "0000498306" "0000246053" "0000498307" "0000246054" "0000498308" "0000246055" "0000498309" "0000246056" "0000498310" "0000246057" "0000498311" "0000246058" "0000498312" "0000246059" "0000498313" "0000246060" "0000498314" "0000246060" "0000498315" "0000246061" "0000498316" "0000246061" "0000498317" "0000246062" "0000498318" "0000246062" "0000498319" "0000246063" "0000498320" "0000246063" "0000498321" "0000246064" "0000498322" "0000246064" "0000498323" "0000246065" "0000498324" "0000246065" "0000498325" "0000246066" "0000498326" "0000246066" "0000498327" "0000246067" "0000498328" "0000246067" "0000498329" "0000246068" "0000498330" "0000246068" "0000498331" "0000246069" "0000498332" "0000246070" "0000498333" "0000246071" "0000498334" "0000246072" "0000498335" "0000246073" "0000498336" "0000246074" "0000498337" "0000246074" "0000498338" "0000246075" "0000498339" "0000246075" "0000498340" "0000246076" "0000498341" "0000246076" "0000498342" "0000246077" "0000498343" "0000246078" "0000498344" "0000246078" "0000498345" "0000246079" "0000498346" "0000246080" "0000498347" "0000246081" "0000498348" "0000246081" "0000498349" "0000246082" "0000498350" "0000246082" "0000498351" "0000246083" "0000498352" "0000246084" "0000498353" "0000246085" "0000498354" "0000246085" "0000498355" "0000246086" "0000498356" "0000246086" "0000498357" "0000246087" "0000498358" "0000246087" "0000498359" "0000246088" "0000498360" "0000246088" "0000498361" "0000246089" "0000498362" "0000246090" "0000498363" "0000246090" "0000498364" "0000246091" "0000498365" "0000246092" "0000498366" "0000246092" "0000498367" "0000246093" "0000498368" "0000246094" "0000498369" "0000246095" "0000498370" "0000246096" "0000498371" "0000246096" "0000498372" "0000246097" "0000498373" "0000246098" "0000498374" "0000246098" "0000498375" "0000246099" "0000498376" "0000246099" "0000498377" "0000246100" "0000498378" "0000246101" "0000498379" "0000246102" "0000498380" "0000246102" "0000498381" "0000246103" "0000498382" "0000246104" "0000498383" "0000246105" "0000498384" "0000246106" "0000498385" "0000246106" "0000498386" "0000246107" "0000498387" "0000246107" "0000498388" "0000246108" "0000498389" "0000246108" "0000498390" "0000246109" "0000498391" "0000246110" "0000498392" "0000246110" "0000498393" "0000246111" "0000498394" "0000246111" "0000498395" "0000246112" "0000498396" "0000246113" "0000498397" "0000246113" "0000498398" "0000246114" "0000498399" "0000246115" "0000498400" "0000246115" "0000498401" "0000246116" "0000498402" "0000246116" "0000498403" "0000246117" "0000498404" "0000246118" "0000498405" "0000246118" "0000498406" "0000246119" "0000498407" "0000246119" "0000498408" "0000246120" "0000498409" "0000246121" "0000498410" "0000246122" "0000498411" "0000246123" "0000498412" "0000246124" "0000498413" "0000246125" "0000498414" "0000246126" "0000498415" "0000246127" "0000498416" "0000246128" "0000498417" "0000246129" "0000498418" "0000246130" "0000498419" "0000246131" "0000498420" "0000246132" "0000498421" "0000246133" "0000498422" "0000246134" "0000498423" "0000246135" "0000498424" "0000246136" "0000498425" "0000246137" "0000498426" "0000246138" "0000498427" "0000246139" "0000498428" "0000246140" "0000498429" "0000246141" "0000498430" "0000246141" "0000498431" "0000246142" "0000498432" "0000246142" "0000498433" "0000246143" "0000498434" "0000246143" "0000498435" "0000246144" "0000498436" "0000246144" "0000498437" "0000246145" "0000498438" "0000246145" "0000498439" "0000246146" "0000498440" "0000246146" "0000498441" "0000246146" "0000498442" "0000246147" "0000498443" "0000246148" "0000498444" "0000246149" "0000498445" "0000246149" "0000498446" "0000246150" "0000498447" "0000246151" "0000498448" "0000246151" "0000498449" "0000246151" "0000498450" "0000246152" "0000498451" "0000246152" "0000498452" "0000246153" "0000498453" "0000246153" "0000498454" "0000246154" "0000498455" "0000246154" "0000498456" "0000246155" "0000498457" "0000246155" "0000498458" "0000246156" "0000498459" "0000246156" "0000498460" "0000246157" "0000498461" "0000246157" "0000498462" "0000246158" "0000498463" "0000246158" "0000498464" "0000246159" "0000498465" "0000246159" "0000498466" "0000246160" "0000498467" "0000246161" "0000498468" "0000246162" "0000498469" "0000246162" "0000498470" "0000246163" "0000498471" "0000246164" "0000498472" "0000246164" "0000498473" "0000246165" "0000498474" "0000246165" "0000498475" "0000246166" "0000498476" "0000246166" "0000498477" "0000246167" "0000498478" "0000246167" "0000498479" "0000246168" "0000498480" "0000246168" "0000498481" "0000246169" "0000498482" "0000246169" "0000498483" "0000246170" "0000498484" "0000246170" "0000498485" "0000246171" "0000498486" "0000246172" "0000498487" "0000246172" "0000498488" "0000246173" "0000498489" "0000246173" "0000498490" "0000294875" "0000651564" "0000294876" "0000651565" "0000294877" "0000651566" "0000375379" "0000786730" "0000375379" "0000787441" "0000375380" "0000786731" "0000375790" "0000787141" "0000375791" "0000787142" "0000375847" "0000787198" "0000415703" "0000873564" "0000415703" "0000873565" "0000432126" "0000917487" "0000433307" "0000918951" "0000439846" "0000935975" "0000439846" "0000936038" "0000465975" "0001029780" "0000465975" "0001029781" "0000465976" "0001029782" "0000465976" "0001029783"