### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALDH5A1) # 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}}" "ALDH5A1" "aldehyde dehydrogenase 5 family, member A1" "6" "p22" "unknown" "NG_008161.1" "UD_132119140900" "" "https://www.LOVD.nl/ALDH5A1" "" "1" "408" "7915" "610045" "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/ALDH5A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2009-05-07 00:00:00" "00006" "2018-10-30 14:47:27" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000139" "ALDH5A1" "aldehyde dehydrogenase 5 family, member A1, transcript variant 1" "002" "NM_001080.3" "" "NP_733936.1" "" "" "" "-28" "5103" "1608" "24495197" "24537435" "00002" "2012-05-11 13:12:13" "" "" "00024199" "ALDH5A1" "transcript variant 1" "001" "NM_170740.1" "" "NP_733936.1" "" "" "" "-28" "5142" "1647" "24495197" "24537435" "00006" "2016-11-16 21:23:14" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02086" "SSADHD" "deficiency, succinate-semialdehyde dehydrogenase (SSADHD)" "AR" "271980" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ALDH5A1" "00139" "ALDH5A1" "02086" ## Individuals ## Do not remove or alter this header ## ## Count = 313 "{{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}}" 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"" "" "00185322" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "F" "" "France" "" "0" "" "" "" "" "00185323" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "F" "" "France" "" "0" "" "" "" "" "00185324" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "M" "" "France" "" "0" "" "" "" "" "00185330" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "F" "" "Sweden" "" "0" "" "" "" "" "00185331" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "F" "" "Australia" "" "0" "" "" "" "" "00185332" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "F" "" "Australia" "" "0" "" "" "" "" "00185333" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "M" "" "Greece" "" "0" "" "" "" "" "00185334" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "F" "" "Greece" "" "0" "" "" "" "" "00185335" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "M" "" "Greece" "" "0" "" "" "" "" "00185336" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "M" "" "Australia" "" "0" "" "" "" "" "00185337" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "F" "" "Australia" "" "0" "" "" "" "" "00185340" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Greece" "" "0" "" "" "" "" "00185349" "" "" "" "1" "" "01815" "{PMID:27056292:Akiyama 2016}" "" "M" "" "Japan" "" "0" "" "" "" "" "00185350" "" "" "" "1" "" "01815" "{PMID:27056292:Akiyama 2016}" "" "F" "" "Japan" "" "0" "" "" "" "" "00185351" "" "" "" "1" "" "01815" "{PMID:27056292:Akiyama 2016}" "" "M" "" "Japan" "" "0" "" "" "" "" "00185353" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "F" "" "Denmark" "" "0" "" "" "" "" "00185354" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "F" "" "Greece" "" "0" "" "" "" "" "00185355" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00185356" "" "" "" "1" "" "01815" "{PMID:Jiang 2013:23926001}" "" "F" "" "China" "" "0" "" "" "" "" "00185357" "" "" "" "1" "" "01815" "{PMID:Shu 2017:28186584}" "" "F" "" "China" "" "0" "" "" "" "" "00185358" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "" "" "" "" "0" "" "" "" "" "00185359" "" "" "" "1" "" "01815" "{PMID:P¸ttmann 2013:23825041}" "" "M" "" "Iran" "" "0" "" "" "" "" "00185360" "" "" "" "1" "" "01815" "{PMID:Yamakawa 2012:21612881}" "" "M" "" "Japan" "" "0" "" "" "" "" "00185361" "" "" "" "1" "" "01815" "{PMID:Li 2015:26220405}" "" "F" "" "China" "" "0" "" "" "" "" "00185362" "" "" "" "1" "" "01815" "{PMID:Liu 2016:25431891}" "" "M" "" "China" "" "0" "" "" "" "" "00185363" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "F" "" "Italy" "" "0" "" "" "" "" "00185364" "" "" "" "1" "" "01815" "{PMID:Lin 2015:25246302}" "" "M" "" "Taiwan" "" "0" "" "" "" "" "00185365" "" "" "" "1" "" "01815" "{PMID:Li 2015:26220405}" "" "F" "" "" "" "0" "" "" "" "" "00185366" "" "" "" "1" "" "01815" "{PMID:Akaboshi 2003:14635103}" "" "F" "" "Pakistan" "" "0" "" "" "" "" "00185367" "" "" "" "1" "" "01815" "{PMID:Kwok 2012:22437753}" "" "M" "" "Pakistan" "" "0" "" "" "" "" "00185368" "" "" "" "1" "" "01815" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00185369" "" "" "" "1" "" "01815" "{PMID:Li 2015:26220405}" "" "M" "" "China" "" "0" "" "" "" "" "00269876" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00294038" "" "" "" "47" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294039" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294040" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374652" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3202" "00377112" "" "" "" "1" "" "01164" "" "" "M" "yes" "" "" "0" "" "" "" "180934" "00401299" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "056P" "00403852" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF006" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 313 "{{individualid}}" "{{diseaseid}}" "00184923" "02086" "00184924" "02086" "00184925" "02086" "00184926" "02086" "00184927" "02086" "00184928" "02086" "00184929" "02086" "00184930" "02086" "00184931" "02086" "00184932" "02086" "00184933" "02086" "00184934" "02086" "00184935" "02086" "00184936" "02086" "00184937" "02086" "00184938" "02086" "00184939" "02086" "00184940" "02086" "00184941" "02086" "00184942" "02086" "00184943" "02086" "00184944" "02086" "00184945" "02086" "00184946" "02086" "00184947" "02086" "00184948" "02086" "00184949" "02086" "00184950" "02086" "00184951" "02086" "00184952" "02086" "00184953" "02086" "00184954" "02086" "00184955" "02086" "00184956" "02086" "00184957" "02086" "00184958" "02086" "00184959" "02086" "00184960" "02086" "00184961" "02086" "00184962" "02086" "00184963" "02086" "00184964" "02086" "00184965" "02086" "00184966" "02086" "00184967" "02086" "00184968" "02086" "00184969" "02086" "00184970" "02086" "00184971" "02086" "00184972" "02086" "00184973" "02086" "00184974" "02086" "00184975" "02086" "00184976" "02086" "00184977" "02086" "00184978" "00198" "00184979" "00198" "00184980" "02086" "00184981" "00198" "00184982" "00198" "00184983" "00198" "00184985" "00198" "00184986" "02086" "00184987" "02086" "00184988" "00198" "00184990" "02086" "00184991" "00198" "00184992" "00198" "00184993" "00198" "00184994" "02086" "00184997" "02086" "00184998" "00198" "00184999" "00198" "00185000" "02086" "00185002" "00198" "00185005" "02086" "00185006" "00198" "00185007" "00198" "00185008" "02086" "00185009" "02086" "00185010" "00198" "00185011" "00198" "00185012" "00198" "00185013" "00198" "00185014" "02086" "00185015" "00198" "00185016" "00198" "00185017" "00198" "00185019" "02086" "00185020" "00198" "00185021" "00198" "00185022" "02086" "00185023" "02086" "00185024" "00198" "00185025" "00198" "00185026" "02086" "00185027" "00198" "00185028" "02086" "00185029" "00198" "00185030" "00198" "00185031" "02086" "00185032" "02086" "00185033" "02086" "00185035" "00198" "00185038" "02086" "00185039" "00198" "00185040" "00198" "00185041" "02086" "00185042" "00198" "00185043" "00198" "00185044" "00198" "00185045" "00198" "00185046" "02086" "00185047" "02086" "00185048" "02086" "00185049" "02086" "00185050" "00198" "00185051" "00198" "00185053" "02086" "00185054" "02086" "00185056" "00198" "00185058" "02086" "00185059" "00198" "00185060" "02086" "00185063" "00198" "00185064" "02086" "00185065" "00198" "00185067" "02086" "00185073" "02086" "00185074" "02086" "00185075" "00198" "00185076" "00198" "00185077" "00198" "00185083" "00198" "00185084" "00198" "00185093" "02086" "00185094" "00198" "00185095" "00198" "00185096" "02086" "00185097" "02086" "00185102" "02086" "00185105" "00198" "00185106" "02086" "00185107" "02086" "00185108" "02086" "00185109" "00198" "00185110" "00198" "00185111" "02086" "00185112" "00198" "00185113" "00198" "00185123" "02086" "00185124" "02086" "00185129" "02086" "00185130" "00198" "00185132" "02086" "00185134" "00198" "00185136" "02086" "00185137" "00198" "00185138" "00198" "00185139" "02086" "00185140" "02086" "00185142" "00198" "00185143" "00198" "00185144" "00198" "00185151" "02086" "00185152" "02086" "00185153" "00198" "00185154" "00198" "00185155" "02086" "00185156" "00198" "00185157" "00198" "00185158" "02086" "00185159" "02086" "00185161" "00198" "00185162" "02086" "00185163" "00198" "00185164" "00198" "00185165" "00198" "00185166" "00198" "00185167" "02086" "00185168" "02086" "00185169" "00198" "00185170" "00198" "00185176" "02086" "00185177" "02086" "00185178" "02086" "00185179" "00198" "00185180" "00198" "00185181" "00198" "00185186" "00198" "00185187" "00198" "00185188" "00198" "00185190" "02086" "00185191" "00198" "00185192" "00198" "00185193" "00198" "00185194" "02086" "00185197" "02086" "00185198" "02086" "00185200" "00198" "00185202" "02086" "00185203" "00198" "00185204" "00198" "00185205" "00198" "00185206" "00198" "00185207" "02086" "00185208" "00198" "00185209" "00198" "00185211" "02086" "00185213" "00198" "00185214" "02086" "00185215" "02086" "00185216" "02086" "00185217" "00198" "00185218" "00198" "00185219" "02086" "00185220" "00198" "00185221" "00198" "00185222" "02086" "00185225" "02086" "00185226" "02086" "00185227" "02086" "00185232" "00198" "00185245" "02086" "00185246" "02086" "00185248" "00198" "00185250" "00198" "00185255" "00198" "00185256" "00198" "00185259" "02086" "00185260" "02086" "00185261" "02086" "00185263" "02086" "00185265" "00198" "00185266" "02086" "00185267" "00198" "00185268" "00198" "00185272" "02086" "00185273" "02086" "00185274" "02086" "00185275" "02086" "00185278" "00198" "00185279" "00198" "00185280" "00198" "00185281" "00198" "00185285" "00198" "00185286" "02086" "00185287" "02086" "00185291" "00198" "00185292" "00198" "00185293" "02086" "00185294" "00198" "00185295" "00198" "00185296" "00198" "00185297" "02086" "00185298" "02086" "00185299" "00198" "00185300" "00198" "00185303" "02086" "00185304" "00198" "00185305" "00198" "00185306" "02086" "00185307" "02086" "00185308" "00198" "00185309" "00198" "00185310" "02086" "00185311" "02086" "00185314" "00198" "00185315" "00198" "00185316" "00198" "00185320" "00198" "00185321" "00198" "00185322" "02086" "00185323" "00198" "00185324" "00198" "00185330" "02086" "00185331" "00198" "00185332" "00198" "00185333" "02086" "00185334" "00198" "00185335" "00198" "00185336" "02086" "00185337" "00198" "00185340" "02086" "00185349" "02086" "00185350" "02086" "00185351" "02086" "00185353" "02086" "00185354" "02086" "00185355" "02086" "00185356" "02086" "00185357" "02086" "00185358" "02086" "00185359" "02086" "00185360" "02086" "00185361" "02086" "00185362" "02086" "00185363" "02086" "00185364" "02086" "00185365" "02086" "00185366" "02086" "00185367" "02086" "00185368" "02086" "00185369" "02086" "00269876" "00198" "00294038" "00198" "00294039" "00198" "00294040" "00198" "00374652" "00198" "00377112" "02086" "00401299" "00139" "00401299" "02086" "00403852" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02086, 05611 ## Count = 308 "{{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}}" "0000145055" "02086" "00184923" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145056" "02086" "00184924" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145057" "02086" "00184925" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145058" "02086" "00184926" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145059" "02086" "00184927" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145060" "02086" "00184928" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145061" "02086" "00184929" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145062" "02086" "00184930" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145063" "02086" "00184931" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145064" "02086" "00184932" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145065" "02086" "00184933" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145066" "02086" "00184934" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145067" "02086" "00184935" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145068" "02086" "00184936" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145069" "02086" "00184937" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145070" "02086" "00184938" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145071" "02086" "00184939" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145072" "02086" "00184940" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145073" "02086" "00184941" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145074" "02086" "00184942" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145075" "02086" "00184943" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145076" "02086" "00184944" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145077" "02086" "00184945" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145078" "02086" "00184946" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145079" "02086" "00184947" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145080" "02086" "00184948" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145081" "02086" "00184949" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145082" "02086" "00184950" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145083" "02086" "00184951" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145084" "02086" "00184952" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145085" "02086" "00184953" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145086" "02086" "00184954" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145087" "02086" "00184955" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145088" "02086" "00184956" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145089" "02086" "00184957" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145090" "02086" "00184958" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145091" "02086" "00184959" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145092" "02086" "00184960" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145093" "02086" "00184961" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145094" "02086" "00184962" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145095" "02086" "00184963" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145096" "02086" "00184964" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145097" "02086" "00184965" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145098" "02086" "00184966" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145099" "02086" "00184967" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145100" "02086" "00184968" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145101" "02086" "00184969" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145102" "02086" "00184970" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145103" "02086" "00184971" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145104" "02086" "00184972" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145105" "02086" "00184973" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145106" "02086" "00184974" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145107" "02086" "00184975" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145108" "02086" "00184976" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145109" "02086" "00184977" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145110" "00198" "00184978" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145111" "00198" "00184979" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145112" "02086" "00184980" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145113" "00198" "00184981" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145114" "00198" "00184982" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145115" "00198" "00184983" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145117" "00198" "00184985" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145118" "02086" "00184986" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145119" "02086" "00184987" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145120" "00198" "00184988" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145122" "02086" "00184990" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145123" "00198" "00184991" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145124" "00198" "00184992" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145125" "00198" "00184993" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145126" "02086" "00184994" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145129" "02086" "00184997" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145130" "00198" "00184998" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145131" "00198" "00184999" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145132" "02086" "00185000" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145134" "00198" "00185002" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145137" "02086" "00185005" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145138" "00198" "00185006" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145139" "00198" "00185007" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145140" "02086" "00185008" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145141" "02086" "00185009" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145142" "00198" "00185010" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145143" "00198" "00185011" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145144" "00198" "00185012" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145145" "00198" "00185013" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145146" "02086" "00185014" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145147" "00198" "00185015" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145148" "00198" "00185016" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145149" "00198" "00185017" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145151" "02086" "00185019" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145152" "00198" "00185020" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145153" "00198" "00185021" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145154" "02086" "00185022" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145155" "02086" "00185023" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145156" "00198" "00185024" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145157" "00198" "00185025" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145158" "02086" "00185026" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145159" "00198" "00185027" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145160" "02086" "00185028" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145161" "00198" "00185029" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145162" "00198" "00185030" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145163" "02086" "00185031" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145164" "02086" "00185032" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145165" "02086" "00185033" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145167" "00198" "00185035" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145170" "02086" "00185038" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145171" "00198" "00185039" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145172" "00198" "00185040" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145173" "02086" "00185041" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145174" "00198" "00185042" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145175" "00198" "00185043" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145176" "00198" "00185044" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145177" "00198" "00185045" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145178" "02086" "00185046" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145179" "02086" "00185047" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145180" "02086" "00185048" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145181" "02086" "00185049" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145182" "00198" "00185050" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145183" "00198" "00185051" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145185" "02086" "00185053" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145186" "02086" "00185054" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145188" "00198" "00185056" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145190" "02086" "00185058" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145191" "00198" "00185059" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145192" "02086" "00185060" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145195" "00198" "00185063" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145196" "02086" "00185064" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145197" "00198" "00185065" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145199" "02086" "00185067" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145205" "02086" "00185073" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145206" "02086" "00185074" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145207" "00198" "00185075" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145208" "00198" "00185076" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145209" "00198" "00185077" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145215" "00198" "00185083" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145216" "00198" "00185084" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145225" "02086" "00185093" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145226" "00198" "00185094" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145227" "00198" "00185095" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145228" "02086" "00185096" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145229" "02086" "00185097" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145234" "02086" "00185102" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145237" "00198" "00185105" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145238" "02086" "00185106" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145239" "02086" "00185107" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145240" "02086" "00185108" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145241" "00198" "00185109" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145242" "00198" "00185110" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145243" "02086" "00185111" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145244" "00198" "00185112" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145245" "00198" "00185113" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145255" "02086" "00185123" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145256" "02086" "00185124" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145261" "02086" "00185129" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145262" "00198" "00185130" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145264" "02086" "00185132" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145266" "00198" "00185134" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145268" "02086" "00185136" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145269" "00198" "00185137" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145270" "00198" "00185138" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145271" "02086" "00185139" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145272" "02086" "00185140" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145274" "00198" "00185142" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145275" "00198" "00185143" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145276" "00198" "00185144" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145283" "02086" "00185151" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145284" "02086" "00185152" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145285" "00198" "00185153" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145286" "00198" "00185154" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145287" "02086" "00185155" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145288" "00198" "00185156" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145289" "00198" "00185157" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145290" "02086" "00185158" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145291" "02086" "00185159" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145293" "00198" "00185161" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145294" "02086" "00185162" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145295" "00198" "00185163" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145296" "00198" "00185164" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145297" "00198" "00185165" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145298" "00198" "00185166" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145299" "02086" "00185167" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145300" "02086" "00185168" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145301" "00198" "00185169" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145302" "00198" "00185170" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145308" "02086" "00185176" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145309" "02086" "00185177" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145310" "02086" "00185178" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145311" "00198" "00185179" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145312" "00198" "00185180" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145313" "00198" "00185181" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145318" "00198" "00185186" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145319" "00198" "00185187" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145320" "00198" "00185188" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145322" "02086" "00185190" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145323" "00198" "00185191" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145324" "00198" "00185192" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145325" "00198" "00185193" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145326" "02086" "00185194" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145329" "02086" "00185197" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145330" "02086" "00185198" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145332" "00198" "00185200" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145334" "02086" "00185202" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145335" "00198" "00185203" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145336" "00198" "00185204" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145337" "00198" "00185205" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145338" "00198" "00185206" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145339" "02086" "00185207" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145340" "00198" "00185208" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145341" "00198" "00185209" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145343" "02086" "00185211" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145345" "00198" "00185213" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145346" "02086" "00185214" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145347" "02086" "00185215" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145348" "02086" "00185216" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145349" "00198" "00185217" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145350" "00198" "00185218" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145351" "02086" "00185219" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145352" "00198" "00185220" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145353" "00198" "00185221" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145354" "02086" "00185222" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145357" "02086" "00185225" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145358" "02086" "00185226" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145359" "02086" "00185227" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145364" "00198" "00185232" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145377" "02086" "00185245" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145378" "02086" "00185246" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145380" "00198" "00185248" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145382" "00198" "00185250" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145387" "00198" "00185255" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145388" "00198" "00185256" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145391" "02086" "00185259" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145392" "02086" "00185260" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145393" "02086" "00185261" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145395" "02086" "00185263" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145397" "00198" "00185265" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145398" "02086" "00185266" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145399" "00198" "00185267" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145400" "00198" "00185268" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145404" "02086" "00185272" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145405" "02086" "00185273" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145406" "02086" "00185274" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145407" "02086" "00185275" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145410" "00198" "00185278" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145411" "00198" "00185279" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145412" "00198" "00185280" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145413" "00198" "00185281" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145417" "00198" "00185285" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145418" "02086" "00185286" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145419" "02086" "00185287" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145423" "00198" "00185291" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145424" "00198" "00185292" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145425" "02086" "00185293" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145426" "00198" "00185294" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145427" "00198" "00185295" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145428" "00198" "00185296" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145429" "02086" "00185297" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145430" "02086" "00185298" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145431" "00198" "00185299" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145432" "00198" "00185300" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145435" "02086" "00185303" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145436" "00198" "00185304" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145437" "00198" "00185305" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145438" "02086" "00185306" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145439" "02086" "00185307" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145440" "00198" "00185308" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145441" "00198" "00185309" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145442" "02086" "00185310" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145443" "02086" "00185311" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145446" "00198" "00185314" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145447" "00198" "00185315" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145448" "00198" "00185316" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145452" "00198" "00185320" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145453" "00198" "00185321" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145454" "02086" "00185322" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145455" "00198" "00185323" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145456" "00198" "00185324" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145462" "02086" "00185330" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145463" "00198" "00185331" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145464" "00198" "00185332" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145465" "02086" "00185333" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145466" "00198" "00185334" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145467" "00198" "00185335" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145468" "02086" "00185336" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145469" "00198" "00185337" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000145472" "02086" "00185340" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145481" "02086" "00185349" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145482" "02086" "00185350" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145483" "02086" "00185351" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145485" "02086" "00185353" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145486" "02086" "00185354" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145487" "02086" "00185355" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145488" "02086" "00185356" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145489" "02086" "00185357" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145490" "02086" "00185358" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145491" "02086" "00185359" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145492" "02086" "00185360" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145493" "02086" "00185361" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145494" "02086" "00185362" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145495" "02086" "00185363" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145496" "02086" "00185364" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145497" "02086" "00185365" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145498" "02086" "00185366" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145499" "02086" "00185367" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145500" "02086" "00185368" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000145501" "02086" "00185369" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SSADHD" "ALDH5A1 defect" "" "0000207672" "00198" "00269876" "01807" "Unknown" "" "Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000269862" "00198" "00374652" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000272294" "02086" "00377112" "01164" "Familial, autosomal recessive" "" "Behavioral abnormality, Delayed speech and language development, Hyperactivity, Global developmental delay, Abnormality of metabolism/homeostasis, Organic aciduria, Abnormality of the basal ganglia, Neurological speech impairment, EEG abnormality, Language impairment, Abnormality of the cerebral subcortex, Aciduria, Neurodevelopmental delay, Abnormality of central nervous system electrophysiology, Abnormal metabolism, Abnormal urine pH" "" "" "" "" "" "" "" "" "3y" "" "" "0000296532" "05611" "00403852" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 313 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000058" "00000058" "1" "00004" "" "2012-05-11 13:18:53" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000185890" "00184923" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185891" "00184924" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185892" "00184925" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185893" "00184926" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185894" "00184927" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185895" "00184928" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185896" "00184929" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185897" "00184930" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185898" "00184931" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185899" "00184932" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185900" "00184933" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185901" "00184934" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185902" "00184935" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185903" "00184936" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185904" "00184937" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185905" "00184938" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185906" "00184939" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185907" "00184940" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185908" "00184941" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185909" "00184942" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185910" "00184943" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185911" "00184944" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185912" "00184945" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185913" "00184946" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185914" "00184947" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185915" "00184948" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185916" "00184949" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185917" "00184950" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185918" "00184951" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185919" "00184952" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185920" "00184953" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185921" "00184954" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185922" "00184955" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185923" "00184956" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185924" "00184957" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185925" "00184958" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185926" "00184959" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185927" "00184960" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185928" "00184961" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185929" "00184962" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185930" "00184963" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185931" "00184964" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185932" "00184965" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185933" "00184966" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185934" "00184967" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185935" "00184968" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185936" "00184969" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185937" "00184970" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185938" "00184971" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185939" "00184972" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185940" "00184973" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185941" "00184974" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185942" "00184975" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185943" "00184976" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185944" "00184977" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185945" "00184978" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185946" "00184979" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185947" "00184980" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185948" "00184981" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185949" "00184982" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185950" "00184983" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185952" "00184985" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185953" "00184986" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185954" "00184987" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185955" "00184988" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185957" "00184990" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185958" "00184991" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185959" "00184992" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185960" "00184993" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185961" "00184994" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185964" "00184997" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185965" "00184998" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185966" "00184999" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185967" "00185000" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185969" "00185002" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000185972" "00185005" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" 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"0000186192" "00185225" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186193" "00185226" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186194" "00185227" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186199" "00185232" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186212" "00185245" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186213" "00185246" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186215" "00185248" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186217" "00185250" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186222" "00185255" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186223" "00185256" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186226" "00185259" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186227" "00185260" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186228" "00185261" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186230" "00185263" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186232" "00185265" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186233" "00185266" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186234" "00185267" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186235" "00185268" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186239" "00185272" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186240" "00185273" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186241" "00185274" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186242" "00185275" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186245" "00185278" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186246" "00185279" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186247" "00185280" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186248" "00185281" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186252" "00185285" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186253" "00185286" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186254" "00185287" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186258" "00185291" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186259" "00185292" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186260" "00185293" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186261" "00185294" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186262" "00185295" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186263" "00185296" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186264" "00185297" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186265" "00185298" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186266" "00185299" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186267" "00185300" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186270" "00185303" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186271" "00185304" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186272" "00185305" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186273" "00185306" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186274" "00185307" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186275" "00185308" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186276" "00185309" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186277" "00185310" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186278" "00185311" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186281" "00185314" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186282" "00185315" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186283" "00185316" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186287" "00185320" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186288" "00185321" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186289" "00185322" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186290" "00185323" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186291" "00185324" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186297" "00185330" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186298" "00185331" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186299" "00185332" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186300" "00185333" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186301" "00185334" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186302" "00185335" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186303" "00185336" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186304" "00185337" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186307" "00185340" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186316" "00185349" "1" "01815" "01815" "2016-05-02 12:14:08" "" "" "SEQ" "DNA" "" "" "0000186317" "00185350" "1" "01815" "01815" "2016-05-02 12:14:08" "" "" "SEQ" "DNA" "" "" "0000186318" "00185351" "1" "01815" "01815" "2016-05-02 12:14:08" "" "" "SEQ" "DNA" "" "" "0000186320" "00185353" "1" "01815" "01815" "2016-09-16 15:19:00" "" "" "SEQ" "DNA" "" "" "0000186321" "00185354" "1" "01815" "01815" "2016-09-16 15:19:00" "" "" "SEQ" "DNA" "" "" "0000186322" "00185355" "1" "01815" "01815" "2017-01-13 11:42:52" "" "" "SEQ" "DNA" "" "" "0000186323" "00185356" "1" "01815" "01815" "2018-09-14 14:20:53" "" "" "SEQ" "DNA" "" "" "0000186324" "00185357" "1" "01815" "01815" "2018-09-14 14:20:53" "" "" "SEQ" "DNA" "" "" "0000186325" "00185358" "1" "01815" "01815" "2018-09-14 14:20:53" "" "" "SEQ" "DNA" "" "" "0000186326" "00185359" "1" "01815" "01815" "2018-09-14 14:20:53" "" "" "SEQ" "DNA" "" "" "0000186327" "00185360" "1" "01815" "01815" "2018-09-14 14:20:53" "" "" "SEQ" "DNA" "" "" "0000186328" "00185361" "1" "01815" "01815" "2018-09-14 14:20:53" "" "" "SEQ" "DNA" "" "" "0000186329" "00185362" "1" "01815" "01815" "2018-09-14 14:20:53" "" "" "SEQ" "DNA" "" "" "0000186330" "00185363" "1" "01815" "01815" "2018-09-14 14:20:53" "" "" "SEQ" "DNA" "" "" "0000186331" "00185364" "1" "01815" "01815" "2018-09-14 14:20:53" "" "" "SEQ" "DNA" "" "" "0000186332" "00185365" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186333" "00185366" "1" "01815" "01815" "2016-01-05 14:32:35" "" "" "SEQ" "DNA" "" "" "0000186334" "00185367" "1" "01815" "01815" "2018-09-14 14:20:53" "" "" "SEQ" "DNA" "" "" "0000186335" "00185368" "1" "01815" "01815" "2016-01-05 14:32:36" "" "" "SEQ" "DNA" "" "" "0000186336" "00185369" "1" "01815" "01815" "2018-09-14 15:03:29" "" "" "SEQ" "DNA" "" "" "0000271029" "00269876" "1" "01807" "01807" "2019-12-10 12:31:17" "" "" "SEQ" "DNA" "" "" "0000295206" "00294038" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295207" "00294039" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295208" "00294040" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375846" "00374652" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000378317" "00377112" "1" "01164" "01164" "2021-07-05 15:35:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000402543" "00401299" "1" "02494" "02494" "2022-01-31 10:34:05" "" "" "SEQ-NG" "DNA" "" "WES" "0000405090" "00403852" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 322 "{{screeningid}}" "{{geneid}}" "0000000058" "ALDH5A1" "0000000058" "ATP7B" "0000000058" "CFTR" "0000000058" "CYP21A2" "0000000058" "GBA" "0000000058" "HEXB" "0000000058" "IGHMBP2" "0000000058" "MEFV" "0000000058" "MYO5A" "0000000058" "NHLRC1" "0000000058" "NPHS1" "0000000058" "PKHD1" "0000000058" "PMM2" "0000000058" "SERPINA1" "0000000058" "SLC26A2" "0000000058" "SMPD1" "0000185890" "ALDH5A1" "0000185891" "ALDH5A1" "0000185892" "ALDH5A1" "0000185893" "ALDH5A1" "0000185894" "ALDH5A1" "0000185895" "ALDH5A1" "0000185896" "ALDH5A1" "0000185897" "ALDH5A1" "0000185898" "ALDH5A1" "0000185899" "ALDH5A1" "0000185900" "ALDH5A1" "0000185901" "ALDH5A1" "0000185902" "ALDH5A1" "0000185903" "ALDH5A1" "0000185904" "ALDH5A1" "0000185905" "ALDH5A1" "0000185906" "ALDH5A1" "0000185907" "ALDH5A1" "0000185908" "ALDH5A1" "0000185909" "ALDH5A1" "0000185910" "ALDH5A1" "0000185911" "ALDH5A1" "0000185912" "ALDH5A1" "0000185913" "ALDH5A1" "0000185914" "ALDH5A1" "0000185915" "ALDH5A1" "0000185916" "ALDH5A1" "0000185917" "ALDH5A1" "0000185918" "ALDH5A1" "0000185919" "ALDH5A1" "0000185920" "ALDH5A1" "0000185921" "ALDH5A1" "0000185922" "ALDH5A1" "0000185923" "ALDH5A1" "0000185924" "ALDH5A1" "0000185925" "ALDH5A1" "0000185926" "ALDH5A1" "0000185927" "ALDH5A1" "0000185928" "ALDH5A1" "0000185929" "ALDH5A1" "0000185930" "ALDH5A1" "0000185931" "ALDH5A1" "0000185932" "ALDH5A1" "0000185933" "ALDH5A1" "0000185934" "ALDH5A1" "0000185935" "ALDH5A1" "0000185936" "ALDH5A1" "0000185937" "ALDH5A1" "0000185938" "ALDH5A1" "0000185939" "ALDH5A1" "0000185940" "ALDH5A1" "0000185941" "ALDH5A1" "0000185942" "ALDH5A1" "0000185943" "ALDH5A1" "0000185944" "ALDH5A1" "0000185945" "ALDH5A1" "0000185946" "ALDH5A1" "0000185947" "ALDH5A1" "0000185948" "ALDH5A1" "0000185949" "ALDH5A1" "0000185950" "ALDH5A1" "0000185952" "ALDH5A1" "0000185953" "ALDH5A1" "0000185954" "ALDH5A1" "0000185955" "ALDH5A1" "0000185957" "ALDH5A1" "0000185958" "ALDH5A1" "0000185959" "ALDH5A1" "0000185960" "ALDH5A1" "0000185961" "ALDH5A1" "0000185964" "ALDH5A1" "0000185965" "ALDH5A1" "0000185966" "ALDH5A1" "0000185967" "ALDH5A1" "0000185969" "ALDH5A1" "0000185972" "ALDH5A1" "0000185973" "ALDH5A1" "0000185974" "ALDH5A1" "0000185975" "ALDH5A1" "0000185976" "ALDH5A1" "0000185977" "ALDH5A1" "0000185978" "ALDH5A1" "0000185979" "ALDH5A1" "0000185980" "ALDH5A1" "0000185981" "ALDH5A1" "0000185982" "ALDH5A1" "0000185983" "ALDH5A1" "0000185984" "ALDH5A1" "0000185986" "ALDH5A1" "0000185987" "ALDH5A1" "0000185988" "ALDH5A1" "0000185989" "ALDH5A1" "0000185990" "ALDH5A1" "0000185991" "ALDH5A1" "0000185992" "ALDH5A1" "0000185993" "ALDH5A1" "0000185994" "ALDH5A1" "0000185995" "ALDH5A1" "0000185996" "ALDH5A1" "0000185997" "ALDH5A1" "0000185998" "ALDH5A1" "0000185999" "ALDH5A1" "0000186000" "ALDH5A1" "0000186002" "ALDH5A1" "0000186005" "ALDH5A1" "0000186006" "ALDH5A1" "0000186007" "ALDH5A1" "0000186008" "ALDH5A1" "0000186009" "ALDH5A1" "0000186010" "ALDH5A1" "0000186011" "ALDH5A1" "0000186012" "ALDH5A1" "0000186013" "ALDH5A1" "0000186014" "ALDH5A1" "0000186015" "ALDH5A1" "0000186016" "ALDH5A1" "0000186017" "ALDH5A1" "0000186018" "ALDH5A1" "0000186020" "ALDH5A1" "0000186021" "ALDH5A1" "0000186023" "ALDH5A1" "0000186025" "ALDH5A1" "0000186026" "ALDH5A1" "0000186027" "ALDH5A1" "0000186030" "ALDH5A1" "0000186031" "ALDH5A1" "0000186032" "ALDH5A1" "0000186034" "ALDH5A1" "0000186040" "ALDH5A1" "0000186041" "ALDH5A1" "0000186042" "ALDH5A1" "0000186043" "ALDH5A1" "0000186044" "ALDH5A1" "0000186050" "ALDH5A1" "0000186051" "ALDH5A1" "0000186060" "ALDH5A1" "0000186061" "ALDH5A1" "0000186062" "ALDH5A1" "0000186063" "ALDH5A1" "0000186064" "ALDH5A1" "0000186069" "ALDH5A1" "0000186072" "ALDH5A1" "0000186073" "ALDH5A1" "0000186074" "ALDH5A1" "0000186075" "ALDH5A1" "0000186076" "ALDH5A1" "0000186077" "ALDH5A1" "0000186078" "ALDH5A1" "0000186079" "ALDH5A1" "0000186080" "ALDH5A1" "0000186090" "ALDH5A1" "0000186091" "ALDH5A1" "0000186096" "ALDH5A1" "0000186097" "ALDH5A1" "0000186099" "ALDH5A1" "0000186101" "ALDH5A1" "0000186103" "ALDH5A1" "0000186104" "ALDH5A1" "0000186105" "ALDH5A1" "0000186106" "ALDH5A1" "0000186107" "ALDH5A1" "0000186109" "ALDH5A1" "0000186110" "ALDH5A1" "0000186111" "ALDH5A1" "0000186118" "ALDH5A1" "0000186119" "ALDH5A1" "0000186120" "ALDH5A1" "0000186121" "ALDH5A1" "0000186122" "ALDH5A1" "0000186123" "ALDH5A1" "0000186124" "ALDH5A1" "0000186125" "ALDH5A1" "0000186126" "ALDH5A1" "0000186128" "ALDH5A1" "0000186129" "ALDH5A1" "0000186130" "ALDH5A1" "0000186131" "ALDH5A1" "0000186132" "ALDH5A1" "0000186133" "ALDH5A1" "0000186134" "ALDH5A1" "0000186135" "ALDH5A1" "0000186136" "ALDH5A1" "0000186137" "ALDH5A1" "0000186143" "ALDH5A1" "0000186144" "ALDH5A1" "0000186145" "ALDH5A1" "0000186146" "ALDH5A1" "0000186147" "ALDH5A1" "0000186148" "ALDH5A1" "0000186153" "ALDH5A1" "0000186154" "ALDH5A1" "0000186155" "ALDH5A1" "0000186157" "ALDH5A1" "0000186158" "ALDH5A1" "0000186159" "ALDH5A1" "0000186160" "ALDH5A1" "0000186161" "ALDH5A1" "0000186164" "ALDH5A1" "0000186165" "ALDH5A1" "0000186167" "ALDH5A1" "0000186169" "ALDH5A1" "0000186170" "ALDH5A1" "0000186171" "ALDH5A1" "0000186172" "ALDH5A1" "0000186173" "ALDH5A1" "0000186174" "ALDH5A1" "0000186175" "ALDH5A1" "0000186176" "ALDH5A1" "0000186178" "ALDH5A1" "0000186180" "ALDH5A1" "0000186181" "ALDH5A1" "0000186182" "ALDH5A1" "0000186183" "ALDH5A1" "0000186184" "ALDH5A1" "0000186185" "ALDH5A1" "0000186186" "ALDH5A1" "0000186187" "ALDH5A1" "0000186188" "ALDH5A1" "0000186189" "ALDH5A1" "0000186192" "ALDH5A1" "0000186193" "ALDH5A1" "0000186194" "ALDH5A1" "0000186199" "ALDH5A1" "0000186212" "ALDH5A1" "0000186213" "ALDH5A1" "0000186215" "ALDH5A1" "0000186217" "ALDH5A1" "0000186222" "ALDH5A1" "0000186223" "ALDH5A1" "0000186226" "ALDH5A1" "0000186227" "ALDH5A1" "0000186228" "ALDH5A1" "0000186230" "ALDH5A1" "0000186232" "ALDH5A1" "0000186233" "ALDH5A1" "0000186234" "ALDH5A1" "0000186235" "ALDH5A1" "0000186239" "ALDH5A1" "0000186240" "ALDH5A1" "0000186241" "ALDH5A1" "0000186242" "ALDH5A1" "0000186245" "ALDH5A1" "0000186246" "ALDH5A1" "0000186247" "ALDH5A1" "0000186248" "ALDH5A1" "0000186252" "ALDH5A1" "0000186253" "ALDH5A1" "0000186254" "ALDH5A1" "0000186258" "ALDH5A1" "0000186259" "ALDH5A1" "0000186260" "ALDH5A1" "0000186261" "ALDH5A1" "0000186262" "ALDH5A1" "0000186263" "ALDH5A1" "0000186264" "ALDH5A1" "0000186265" "ALDH5A1" "0000186266" "ALDH5A1" "0000186267" "ALDH5A1" "0000186270" "ALDH5A1" "0000186271" "ALDH5A1" "0000186272" "ALDH5A1" "0000186273" "ALDH5A1" "0000186274" "ALDH5A1" "0000186275" "ALDH5A1" "0000186276" "ALDH5A1" "0000186277" "ALDH5A1" "0000186278" "ALDH5A1" "0000186281" "ALDH5A1" "0000186282" "ALDH5A1" "0000186283" "ALDH5A1" "0000186287" "ALDH5A1" "0000186288" "ALDH5A1" "0000186289" "ALDH5A1" "0000186290" "ALDH5A1" "0000186291" "ALDH5A1" "0000186297" "ALDH5A1" "0000186298" "ALDH5A1" "0000186299" "ALDH5A1" "0000186300" "ALDH5A1" "0000186301" "ALDH5A1" "0000186302" "ALDH5A1" "0000186303" "ALDH5A1" "0000186304" "ALDH5A1" "0000186307" "ALDH5A1" "0000186316" "ALDH5A1" "0000186317" "ALDH5A1" "0000186318" "ALDH5A1" "0000186320" "ALDH5A1" "0000186321" "ALDH5A1" "0000186322" "ALDH5A1" "0000186323" "ALDH5A1" "0000186324" "ALDH5A1" "0000186325" "ALDH5A1" "0000186326" "ALDH5A1" "0000186327" "ALDH5A1" "0000186328" "ALDH5A1" "0000186329" "ALDH5A1" "0000186330" "ALDH5A1" "0000186331" "ALDH5A1" "0000186332" "ALDH5A1" "0000186333" "ALDH5A1" "0000186334" "ALDH5A1" "0000186335" "ALDH5A1" "0000186336" "ALDH5A1" "0000375846" "ALDH5A1" "0000378317" "ALDH5A1" ## 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 = 554 "{{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}}" "0000001102" "0" "50" "6" "24533938" "24533938" "subst" "0.000121843" "00002" "ALDH5A1_000115" "g.24533938T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.24533710T>C" "" "VUS" "" "0000259019" "0" "10" "6" "24495234" "24495234" "subst" "0.00773238" "02325" "ALDH5A1_000117" "g.24495234T>G" "" "" "" "ALDH5A1(NM_170740.1):c.10T>G (p.C4G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24495006T>G" "" "benign" "" "0000259020" "0" "10" "6" "24532412" "24532412" "subst" "0.0794686" "02325" "ALDH5A1_000130" "g.24532412G>A" "" "" "" "ALDH5A1(NM_170740.1):c.1441+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24532184G>A" "" "benign" "" "0000259021" "0" "10" "6" "24503590" "24503590" "subst" "0.310469" "02325" "ALDH5A1_000119" "g.24503590C>T" "" "" "" "ALDH5A1(NM_170740.1):c.538C>T (p.H180Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24503362C>T" "" "benign" "" "0000259022" "0" "10" "6" "24505165" "24505165" "subst" "0.00179099" "02325" "ALDH5A1_000121" "g.24505165G>C" "" "" "" "ALDH5A1(NM_170740.1):c.678G>C (p.V226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24504937G>C" "" "benign" "" "0000259023" "0" "10" "6" "24505221" "24505221" "subst" "0.220269" "02325" "ALDH5A1_000122" "g.24505221G>A" "" "" "" "ALDH5A1(NM_170740.1):c.726+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24504993G>A" "" "benign" "" "0000259449" "0" "30" "6" "24520719" "24520719" "subst" "0.00335857" "02325" "ALDH5A1_000124" "g.24520719G>A" "" "" "" "ALDH5A1(NM_170740.1):c.1000G>A (p.V334M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24520491G>A" "" "likely benign" "" "0000259450" "0" "30" "6" "24523144" "24523144" "subst" "1.62547E-5" "02325" "ALDH5A1_000126" "g.24523144G>C" "" "" "" "ALDH5A1(NM_170740.1):c.1203G>C (p.A401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24522916G>C" "" "likely benign" "" "0000259451" "0" "30" "6" "24528267" "24528267" "subst" "2.84319E-5" "02325" "ALDH5A1_000127" "g.24528267G>A" "" "" "" "ALDH5A1(NM_170740.1):c.1255G>A (p.V419I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24528039G>A" "" "likely benign" "" "0000259452" "0" "30" "6" "24532392" "24532392" "subst" "0.00611613" "02325" "ALDH5A1_000129" "g.24532392T>C" "" "" "" "ALDH5A1(NM_170740.1):c.1428T>C (p.D476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24532164T>C" "" "likely benign" "" "0000259453" "0" "30" "6" "24520643" "24520643" "subst" "1.21886E-5" "02325" "ALDH5A1_000123" "g.24520643C>T" "" "" "" "ALDH5A1(NM_170740.1):c.924C>T (p.H308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24520415C>T" "" "likely benign" "" "0000259637" "0" "50" "6" "24495214" "24495214" "subst" "0" "02325" "ALDH5A1_000116" "g.24495214T>C" "" "" "" "ALDH5A1(NM_170740.1):c.-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24494986T>C" "" "VUS" "" "0000259723" "0" "70" "6" "24503641" "24503641" "subst" "4.48741E-5" "02325" "ALDH5A1_006121" "g.24503641G>A" "" "" "" "ALDH5A1(NM_170740.1):c.589G>A (p.V197M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24503413G>A" "" "likely pathogenic" "" "0000262217" "0" "30" "6" "24505165" "24505165" "subst" "0.00179099" "01943" "ALDH5A1_000121" "g.24505165G>C" "" "" "" "ALDH5A1(NM_170740.1):c.678G>C (p.V226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24504937G>C" "" "likely benign" "" "0000330827" "0" "50" "6" "24429342" "24429342" "del" "0" "01804" "GPLD1_000001" "g.24429342del" "" "" "" "GPLD1(NM_001503.3):c.2442del (p.(Val815SerfsTer47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24429114del" "" "VUS" "" "0000330829" "0" "50" "6" "24447087" "24447087" "subst" "1.22166E-5" "01804" "GPLD1_000002" "g.24447087G>A" "" "" "" "GPLD1(NM_001503.3):c.1799C>T (p.(Pro600Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24446859G>A" "" "VUS" "" "0000330830" "0" "50" "6" "24495578" "24495578" "subst" "8.12559E-6" "01804" "ALDH5A1_000118" "g.24495578G>C" "" "" "" "ALDH5A1(NM_001080.3):c.354G>C (p.(Lys118Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24495350G>C" "" "VUS" "" "0000330831" "0" "50" "6" "24523143" "24523143" "subst" "3.65681E-5" "01804" "ALDH5A1_000125" "g.24523143C>T" "" "" "" "ALDH5A1(NM_001080.3):c.1163C>T (p.(Ala388Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24522915C>T" "" "VUS" "" "0000330832" "0" "50" "6" "24528277" "24528277" "subst" "2.84326E-5" "01804" "ALDH5A1_006067" "g.24528277G>A" "" "" "" "ALDH5A1(NM_001080.3):c.1226G>A (p.(Gly409Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24528049G>A" "" "VUS" "" "0000330833" "0" "50" "6" "24533867" "24533867" "subst" "2.84243E-5" "01804" "ALDH5A1_000131" "g.24533867T>G" "" "" "" "ALDH5A1(NM_001080.3):c.1535T>G (p.(Leu512Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24533639T>G" "" "VUS" "" "0000343759" "0" "50" "6" "24528331" "24528331" "subst" "0.000162488" "02327" "ALDH5A1_000132" "g.24528331A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24528103A>G" "" "VUS" "" "0000350488" "0" "10" "6" "24520719" "24520719" "subst" "0.00335857" "02327" "ALDH5A1_000124" "g.24520719G>A" "" "" "" "ALDH5A1(NM_170740.1):c.1000G>A (p.V334M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24520491G>A" "" "benign" "" "0000411546" "1" "99" "6" "24495258" "24495258" "dup" "0" "01815" "ALDH5A1_006002" "g.24495258dup" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495030dup" "" "pathogenic (recessive)" "" "0000411547" "2" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411548" "1" "99" "6" "24495327" "24495345" "del" "0" "01815" "ALDH5A1_006003" "g.24495327_24495345del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495099_24495117del" "" "pathogenic (recessive)" "" "0000411549" "2" "99" "6" "24533792" "24533792" "subst" "0" "01815" "ALDH5A1_006074" "g.24533792T>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533564T>A" "" "pathogenic (recessive)" "" "0000411550" "1" "99" "6" "24495459" "24495459" "subst" "0" "01815" "ALDH5A1_006011" "g.24495459C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495231C>T" "" "pathogenic (recessive)" "" "0000411551" "2" "99" "6" "24495459" "24495459" "subst" "0" "01815" "ALDH5A1_006011" "g.24495459C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495231C>T" "" "pathogenic (recessive)" "" "0000411552" "1" "99" "6" "24495502" "24495522" "dup" "0" "01815" "ALDH5A1_006016" "g.24495502_24495522dup" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274_24495294dup" "" "pathogenic (recessive)" "" "0000411553" "2" "99" "6" "24523125" "24523125" "subst" "0" "01815" "ALDH5A1_006065" "g.24523125C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24522897C>T" "" "pathogenic (recessive)" "" "0000411554" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411555" "2" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411556" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411557" "2" "99" "6" "24515539" "24515539" "subst" "4.06138E-6" "01815" "ALDH5A1_006057" "g.24515539G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS5+1G>T" "" "Germline" "" "" "0" "" "" "g.24515311G>T" "" "pathogenic (recessive)" "" "0000411558" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411559" "2" "99" "6" "24533929" "24533929" "subst" "2.43645E-5" "01815" "ALDH5A1_006081" "g.24533929G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533701G>A" "" "pathogenic (recessive)" "" "0000411560" "1" "99" "6" "24502780" "24502780" "subst" "0" "01815" "ALDH5A1_006021" "g.24502780C>G" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24502552C>G" "" "pathogenic (recessive)" "" "0000411561" "2" "99" "6" "24502780" "24502780" "subst" "0" "01815" "ALDH5A1_006021" "g.24502780C>G" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24502552C>G" "" "pathogenic (recessive)" "" "0000411562" "1" "99" "6" "24503507" "24503508" "dup" "0" "01815" "ALDH5A1_006026" "g.24503507_24503508dup" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503279_24503280dup" "" "pathogenic (recessive)" "" "0000411563" "2" "99" "6" "24503507" "24503508" "dup" "0" "01815" "ALDH5A1_006026" "g.24503507_24503508dup" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503279_24503280dup" "" "pathogenic (recessive)" "" "0000411564" "1" "99" "6" "24503513" "24503526" "del" "0" "01815" "ALDH5A1_006027" "g.24503513_24503526del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503285_24503298del" "" "pathogenic (recessive)" "" "0000411565" "2" "99" "6" "24503513" "24503526" "del" "0" "01815" "ALDH5A1_006027" "g.24503513_24503526del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503285_24503298del" "" "pathogenic (recessive)" "" "0000411566" "1" "99" "6" "24503578" "24503578" "subst" "0" "01815" "ALDH5A1_006029" "g.24503578G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503350G>A" "" "pathogenic (recessive)" "" "0000411567" "2" "99" "6" "24503578" "24503578" "subst" "0" "01815" "ALDH5A1_006029" "g.24503578G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503350G>A" "" "pathogenic (recessive)" "" "0000411568" "1" "99" "6" "24503578" "24503578" "subst" "0" "01815" "ALDH5A1_006029" "g.24503578G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503350G>A" "" "pathogenic (recessive)" "" "0000411569" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411570" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411571" "2" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411572" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411573" "2" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411574" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411575" "2" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411576" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411577" "2" "99" "6" "24520763" "24520763" "subst" "8.12176E-6" "01815" "ALDH5A1_006060" "g.24520763C>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24520535C>A" "" "pathogenic (recessive)" "" "0000411578" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411579" "2" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411580" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411581" "2" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411582" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "no variant 2nd allele identified" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411583" "1" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411584" "2" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411585" "1" "99" "6" "24505155" "24505155" "subst" "0" "01815" "ALDH5A1_006046" "g.24505155G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504927G>A" "" "pathogenic (recessive)" "" "0000411586" "2" "99" "6" "24505155" "24505155" "subst" "0" "01815" "ALDH5A1_006046" "g.24505155G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504927G>A" "" "pathogenic (recessive)" "" "0000411587" "1" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411588" "2" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411589" "1" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411590" "2" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411591" "1" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411592" "2" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411593" "1" "99" "6" "24515432" "24515432" "subst" "2.43643E-5" "01815" "ALDH5A1_006053" "g.24515432A>G" "" "{PMID:Akaboshi 2003:14635103}" "" "" "no variant 2nd allele identified" "Germline" "" "" "0" "" "" "g.24515204A>G" "" "pathogenic (recessive)" "" "0000411594" "1" "99" "6" "24515449" "24515449" "subst" "2.84252E-5" "01815" "ALDH5A1_006054" "g.24515449C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515221C>T" "" "pathogenic (recessive)" "" "0000411595" "2" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411596" "1" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411597" "2" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411598" "1" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411599" "2" "99" "6" "24495258" "24495258" "dup" "0" "01815" "ALDH5A1_006002" "g.24495258dup" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495030dup" "" "pathogenic (recessive)" "" "0000411600" "1" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411601" "2" "99" "6" "24502752" "24515539" "del" "0" "01815" "ALDH5A1_006087" "g.24502752_24515539del" "" "{PMID:Akaboshi 2003:14635103}" "" "r.EX2_EX5del (E119K290del)" "" "Germline" "" "" "0" "" "" "g.24502524_24515311del" "" "pathogenic (recessive)" "" "0000411602" "1" "99" "6" "24523125" "24523125" "subst" "0" "01815" "ALDH5A1_006066" "g.24523125C>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24522897C>A" "" "pathogenic (recessive)" "" "0000411603" "2" "99" "6" "24523125" "24523125" "subst" "0" "01815" "ALDH5A1_006066" "g.24523125C>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24522897C>A" "" "pathogenic (recessive)" "" "0000411604" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411605" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411606" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411607" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411608" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411609" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411610" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411611" "2" "99" "6" "24502835" "24502835" "subst" "0" "01815" "ALDH5A1_006023" "g.24502835G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.24502607G>A" "" "pathogenic (recessive)" "" "0000411612" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411613" "2" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411614" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411615" "2" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411616" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411617" "2" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411618" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411619" "2" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411620" "1" "99" "6" "24528374" "24528374" "dup" "0" "01815" "ALDH5A1_006070" "g.24528374dup" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528146dup" "" "pathogenic (recessive)" "" "0000411621" "2" "99" "6" "24528374" "24528374" "dup" "0" "01815" "ALDH5A1_006070" "g.24528374dup" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528146dup" "" "pathogenic (recessive)" "" "0000411622" "1" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411623" "2" "99" "6" "24495388" "24495389" "del" "0" "01815" "ALDH5A1_006009" "g.24495388_24495389del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495160_24495161del" "" "pathogenic (recessive)" "" "0000411624" "1" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411625" "2" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411626" "1" "99" "6" "24533929" "24533929" "subst" "2.43645E-5" "01815" "ALDH5A1_006081" "g.24533929G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533701G>A" "" "pathogenic (recessive)" "" "0000411627" "2" "99" "6" "24495388" "24495389" "del" "0" "01815" "ALDH5A1_006009" "g.24495388_24495389del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495160_24495161del" "" "pathogenic (recessive)" "" "0000411628" "1" "99" "6" "24505095" "24505095" "subst" "4.06065E-6" "01815" "ALDH5A1_006038" "g.24505095A>G" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS3-2A>G" "" "Germline" "" "" "0" "" "" "g.24504867A>G" "" "pathogenic (recessive)" "" "0000411629" "2" "99" "6" "24503626" "24503626" "subst" "0" "01815" "ALDH5A1_006034" "g.24503626A>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503398A>T" "" "pathogenic (recessive)" "" "0000411630" "1" "99" "6" "24505095" "24505095" "subst" "4.06065E-6" "01815" "ALDH5A1_006038" "g.24505095A>G" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS3-2A>G" "" "Germline" "" "" "0" "" "" "g.24504867A>G" "" "pathogenic (recessive)" "" "0000411631" "2" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411632" "1" "99" "6" "24515539" "24515539" "subst" "0" "01815" "ALDH5A1_006057" "g.24515539G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS5+1G>A" "" "Germline" "" "" "0" "" "" "g.24515311G>A" "" "pathogenic (recessive)" "" "0000411633" "2" "99" "6" "24515539" "24515539" "subst" "0" "01815" "ALDH5A1_006057" "g.24515539G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS5+1G>A" "" "Germline" "" "" "0" "" "" "g.24515311G>A" "" "pathogenic (recessive)" "" "0000411634" "1" "99" "6" "24515539" "24515539" "subst" "4.06138E-6" "01815" "ALDH5A1_006057" "g.24515539G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS5+1G>T" "" "Germline" "" "" "0" "" "" "g.24515311G>T" "" "pathogenic (recessive)" "" "0000411635" "2" "99" "6" "24515539" "24515539" "subst" "4.06138E-6" "01815" "ALDH5A1_006057" "g.24515539G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS5+1G>T" "" "Germline" "" "" "0" "" "" "g.24515311G>T" "" "pathogenic (recessive)" "" "0000411636" "1" "99" "6" "24522993" "24522993" "subst" "2.43696E-5" "01815" "ALDH5A1_006062" "g.24522993A>C" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS6-2A>C" "" "Germline" "" "" "0" "" "" "g.24522765A>C" "" "pathogenic (recessive)" "" "0000411637" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411638" "1" "99" "6" "24528395" "24528395" "del" "4.06398E-6" "01815" "ALDH5A1_006072" "g.24528395del" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS8+1delG" "" "Germline" "" "" "0" "" "" "g.24528167del" "" "pathogenic (recessive)" "" "0000411639" "2" "99" "6" "24528395" "24528395" "del" "4.06398E-6" "01815" "ALDH5A1_006072" "g.24528395del" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS8+1delG" "" "Germline" "" "" "0" "" "" "g.24528167del" "" "pathogenic (recessive)" "" "0000411640" "1" "99" "6" "24528395" "24528395" "del" "4.06398E-6" "01815" "ALDH5A1_006072" "g.24528395del" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS8+1delG" "" "Germline" "" "" "0" "" "" "g.24528167del" "" "pathogenic (recessive)" "" "0000411641" "2" "99" "6" "24528395" "24528395" "del" "4.06398E-6" "01815" "ALDH5A1_006072" "g.24528395del" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS8+1delG" "" "Germline" "" "" "0" "" "" "g.24528167del" "" "pathogenic (recessive)" "" "0000411642" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411643" "2" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411644" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411645" "2" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411646" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411647" "2" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411648" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411649" "2" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411650" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411651" "2" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411652" "1" "99" "6" "24533798" "24533804" "del" "0" "01815" "ALDH5A1_006075" "g.24533798_24533804del" "" "{PMID:Bekri 2004:15059623}" "" "1533delTGGTTGG" "" "Germline" "" "" "0" "" "" "g.24533570_24533576del" "" "pathogenic (recessive)" "" "0000411653" "2" "99" "6" "24533798" "24533804" "del" "0" "01815" "ALDH5A1_006075" "g.24533798_24533804del" "" "{PMID:Bekri 2004:15059623}" "" "1533delTGGTTGG" "" "Germline" "" "" "0" "" "" "g.24533570_24533576del" "" "pathogenic (recessive)" "" "0000411654" "1" "99" "6" "24533798" "24533804" "del" "0" "01815" "ALDH5A1_006075" "g.24533798_24533804del" "" "{PMID:Bekri 2004:15059623}" "" "1533delTGGTTGG" "" "Germline" "" "" "0" "" "" "g.24533570_24533576del" "" "pathogenic (recessive)" "" "0000411655" "1" "99" "6" "24533798" "24533804" "del" "0" "01815" "ALDH5A1_006075" "g.24533798_24533804del" "" "{PMID:Bekri 2004:15059623}" "" "1533delTGGTTGG" "" "Germline" "" "" "0" "" "" "g.24533570_24533576del" "" "pathogenic (recessive)" "" "0000411656" "1" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411657" "2" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411658" "1" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411659" "1" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411660" "1" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411663" "1" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411664" "1" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411665" "2" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411666" "1" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411667" "2" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411668" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411670" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411671" "2" "99" "6" "24533930" "24533930" "subst" "0" "01815" "ALDH5A1_006082" "g.24533930G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "1597G>A" "" "Germline" "" "" "0" "" "" "g.24533702G>A" "" "pathogenic (recessive)" "" "0000411672" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411673" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411674" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411675" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411676" "2" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411681" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411682" "2" "99" "6" "24515539" "24515539" "subst" "4.06138E-6" "01815" "ALDH5A1_006057" "g.24515539G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS5+1G>T" "" "Germline" "" "" "0" "" "" "g.24515311G>T" "" "pathogenic (recessive)" "" "0000411683" "1" "99" "6" "24515539" "24515539" "subst" "4.06138E-6" "01815" "ALDH5A1_006057" "g.24515539G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS5+1G>T" "" "Germline" "" "" "0" "" "" "g.24515311G>T" "" "pathogenic (recessive)" "" "0000411684" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411685" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411686" "2" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411688" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411689" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411692" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411693" "2" "99" "6" "24502835" "24502835" "subst" "0" "01815" "ALDH5A1_006023" "g.24502835G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.24502607G>A" "" "pathogenic (recessive)" "" "0000411694" "1" "99" "6" "24502835" "24502835" "subst" "0" "01815" "ALDH5A1_006023" "g.24502835G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.24502607G>A" "" "pathogenic (recessive)" "" "0000411695" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411696" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411697" "2" "99" "6" "24502835" "24502835" "subst" "0" "01815" "ALDH5A1_006023" "g.24502835G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.24502607G>A" "" "pathogenic (recessive)" "" "0000411698" "1" "99" "6" "24503578" "24503578" "subst" "0" "01815" "ALDH5A1_006029" "g.24503578G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503350G>A" "" "pathogenic (recessive)" "" "0000411699" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411700" "1" "99" "6" "24503578" "24503578" "subst" "0" "01815" "ALDH5A1_006029" "g.24503578G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503350G>A" "" "pathogenic (recessive)" "" "0000411701" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411702" "1" "99" "6" "24503578" "24503578" "subst" "0" "01815" "ALDH5A1_006029" "g.24503578G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24503350G>A" "" "pathogenic (recessive)" "" "0000411703" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411704" "1" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411705" "2" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411706" "1" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411707" "1" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411708" "1" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411711" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411712" "2" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411713" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411714" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411715" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411716" "2" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411717" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411718" "2" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411719" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411720" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000411721" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411722" "2" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411723" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" 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2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411740" "2" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411741" "1" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411742" "1" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411743" "1" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411744" "2" "99" "6" 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"Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411749" "1" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411750" "2" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411751" "1" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411752" "2" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411753" "1" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411754" "2" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411755" "1" "99" "6" "24523125" "24523125" "subst" "0" "01815" "ALDH5A1_006066" "g.24523125C>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24522897C>A" "" "pathogenic (recessive)" "" "0000411756" "2" "99" "6" "24523125" "24523125" "subst" "0" "01815" "ALDH5A1_006066" "g.24523125C>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24522897C>A" "" "pathogenic (recessive)" "" "0000411757" "1" "99" "6" "24523125" "24523125" "subst" "0" "01815" "ALDH5A1_006066" "g.24523125C>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24522897C>A" "" "pathogenic (recessive)" "" "0000411758" "1" "99" "6" "24523125" "24523125" "subst" "0" "01815" "ALDH5A1_006066" "g.24523125C>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24522897C>A" "" "pathogenic (recessive)" "" "0000411760" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411761" "2" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411762" "1" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411765" "1" "99" "6" "24533872" "24533872" "subst" "4.06065E-6" "01815" "ALDH5A1_006079" "g.24533872C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533644C>T" "" "pathogenic (recessive)" "" "0000411767" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411768" "2" "99" "6" "24522993" "24522993" "subst" "2.43696E-5" "01815" "ALDH5A1_006062" "g.24522993A>C" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS6-2A>C" "" "Germline" "" "" "0" "" "" "g.24522765A>C" "" "pathogenic (recessive)" "" "0000411769" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411770" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411771" "2" "99" "6" "24502835" "24502835" "subst" "0" "01815" "ALDH5A1_006023" "g.24502835G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.24502607G>A" "" "pathogenic (recessive)" "" "0000411773" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411775" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411776" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411778" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411780" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000411781" "2" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411790" "1" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411791" "2" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000411792" "1" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411793" "2" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411794" "1" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411795" "1" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411796" "1" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411804" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411805" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000411817" "1" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 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"6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411942" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411943" "2" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411944" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411945" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411952" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411953" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411954" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411955" "2" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411958" "1" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000411960" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411961" "2" "99" "6" "24505095" "24505095" "subst" "4.06065E-6" "01815" "ALDH5A1_006038" "g.24505095A>G" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS3-2A>G" "" "Germline" "" "" "0" "" "" "g.24504867A>G" "" "pathogenic (recessive)" "" "0000411962" "1" "99" "6" "24505095" "24505095" "subst" "4.06065E-6" "01815" "ALDH5A1_006038" "g.24505095A>G" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS3-2A>G" "" "Germline" "" "" "0" "" "" "g.24504867A>G" "" "pathogenic (recessive)" "" "0000411963" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411964" "1" "99" "6" "24495560" "24495560" "subst" "0" "01815" "ALDH5A1_006017" "g.24495560G>A" "" "{PMID:Yamakawa 2012:21612881}" "" "366delG (W112fsX112)" "" "Germline" "" "" "0" "" "" "g.24495332G>A" "" "pathogenic (recessive)" "" "0000411965" "2" "99" "6" "24495560" "24495560" "subst" "0" "01815" "ALDH5A1_006017" "g.24495560G>A" "" "{PMID:Yamakawa 2012:21612881}" "" "366delG (W112fsX112)" "" "Germline" "" "" "0" "" "" "g.24495332G>A" "" "pathogenic (recessive)" "" "0000411968" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411970" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411971" "2" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411973" "2" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411974" "1" "99" "6" "24505185" "24505185" "subst" "0" "01815" "ALDH5A1_006048" "g.24505185C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504957C>T" "" "pathogenic (recessive)" "" "0000411976" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411977" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411978" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411979" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411980" "1" "99" "6" "24495560" "24495560" "subst" "0" "01815" "ALDH5A1_006017" "g.24495560G>A" "" "{PMID:Yamakawa 2012:21612881}" "" "366delG (W112fsX112)" "" "Germline" "" "" "0" "" "" "g.24495332G>A" "" "pathogenic (recessive)" "" "0000411981" "1" "99" "6" "24495560" "24495560" "subst" "0" "01815" "ALDH5A1_006017" "g.24495560G>A" "" "{PMID:Yamakawa 2012:21612881}" "" "366delG (W112fsX112)" "" "Germline" "" "" "0" "" "" "g.24495332G>A" "" "pathogenic (recessive)" "" "0000411982" "1" "99" "6" "24505155" "24505155" "subst" "0" "01815" "ALDH5A1_006046" "g.24505155G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504927G>A" "" "pathogenic (recessive)" "" "0000411983" "2" "99" "6" "24528374" "24528374" "dup" "0" "01815" "ALDH5A1_006070" "g.24528374dup" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528146dup" "" "pathogenic (recessive)" "" "0000411984" "1" "99" "6" "24505155" "24505155" "subst" "0" "01815" "ALDH5A1_006046" "g.24505155G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504927G>A" "" "pathogenic (recessive)" "" "0000411985" "1" "99" "6" "24528374" "24528374" "dup" "0" "01815" "ALDH5A1_006070" "g.24528374dup" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528146dup" "" "pathogenic (recessive)" "" "0000411988" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411991" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000411992" "1" "99" "6" "24533929" "24533929" "subst" "2.43645E-5" "01815" "ALDH5A1_006081" "g.24533929G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533701G>A" "" "pathogenic (recessive)" "" "0000411993" "2" "99" "6" "24533929" "24533929" "subst" "2.43645E-5" "01815" "ALDH5A1_006081" "g.24533929G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533701G>A" "" "pathogenic (recessive)" "" "0000411994" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411995" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411996" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411997" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411998" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000411999" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000412000" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000412001" "2" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000412002" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000412003" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000412004" "1" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000412005" "2" "99" "6" "24532406" "24532406" "subst" "0" "01815" "ALDH5A1_006073" "g.24532406G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.24532178G>T" "" "pathogenic (recessive)" "" "0000412007" "2" "99" "6" "24505155" "24505155" "subst" "0" "01815" "ALDH5A1_006046" "g.24505155G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504927G>A" "" "pathogenic (recessive)" "" "0000412009" "2" "99" "6" "24505155" "24505155" "subst" "0" "01815" "ALDH5A1_006046" "g.24505155G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504927G>A" "" "pathogenic (recessive)" "" "0000412010" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000412011" "2" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000412012" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000412014" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000412015" "2" "99" "6" "24505108" "24505108" "del" "0" "01815" "ALDH5A1_006041" "g.24505108del" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504880del" "" "pathogenic (recessive)" "" "0000412017" "2" "99" "6" "24515471" "24515471" "subst" "8.12156E-5" "01815" "ALDH5A1_006055" "g.24515471G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24515243G>A" "" "pathogenic (recessive)" "" "0000412021" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" 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"Germline" "" "" "0" "" "" "g.24533701G>A" "" "pathogenic (recessive)" "" "0000412144" "1" "99" "6" "24533929" "24533929" "subst" "2.43645E-5" "01815" "ALDH5A1_006081" "g.24533929G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24533701G>A" "" "pathogenic (recessive)" "" "0000412145" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000412146" "2" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000412147" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000412148" "1" "99" "6" "24495502" "24495502" "subst" "4.0663E-5" "01815" "ALDH5A1_006015" "g.24495502G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24495274G>T" "" "pathogenic (recessive)" "" "0000412149" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000412151" "1" "99" "6" "24505099" "24505099" "subst" "4.46675E-5" "01815" "ALDH5A1_006039" "g.24505099G>A" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504871G>A" "" "pathogenic (recessive)" "" "0000412154" "3" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000412164" "1" "99" "6" "24533879" "24533879" "subst" "0" "01815" "ALDH5A1_006109" "g.24533879G>A" "" "{PMID:27056292:Akiyama 2016}" "" "1586G>A (artikel)" "" "Germline" "" "" "0" "" "" "g.24533651G>A" "" "pathogenic (recessive)" "" "0000412165" "2" "11" "6" "24495330" "24495330" "subst" "0.0407091" "01815" "ALDH5A1_006130" "g.24495330G>C" "" "{PMID:27056292:Akiyama 2016}" "" "" "" "Germline" "" "" "0" "" "" "g.24495102G>C" "" "benign" "" "0000412166" "2" "11" "6" "24503590" "24503590" "subst" "0.310469" "01815" "ALDH5A1_000119" "g.24503590C>T" "" "{PMID:27056292:Akiyama 2016}" "" "" "" "Germline" "" "" "0" "" "" "g.24503362C>T" "" "benign" "" "0000412167" "2" "11" "6" "24503597" "24503597" "subst" "0.0381572" "01815" "ALDH5A1_006131" "g.24503597C>T" "" "{PMID:27056292:Akiyama 2016}" "" "" "" "Germline" "" "" "0" "" "" "g.24503369C>T" "" "benign" "" "0000412168" "1" "11" "6" "24495330" "24495330" "subst" "0.0407091" "01815" "ALDH5A1_006130" "g.24495330G>C" "" "{PMID:27056292:Akiyama 2016}" "" "" "" "Germline" "" "" "0" "" "" "g.24495102G>C" "" "benign" "" "0000412169" "1" "11" "6" "24503590" "24503590" "subst" "0.310469" "01815" "ALDH5A1_000119" "g.24503590C>T" "" "{PMID:27056292:Akiyama 2016}" "" "" "" "Germline" "" "" "0" "" "" "g.24503362C>T" "" "benign" "" "0000412170" "1" "11" "6" "24503597" "24503597" "subst" "0.0381572" "01815" "ALDH5A1_006131" "g.24503597C>T" "" "{PMID:27056292:Akiyama 2016}" "" "" "" "Germline" "" "" "0" "" "" "g.24503369C>T" "" "benign" "" "0000412171" "1" "99" "6" "24533879" "24533879" "subst" "0" "01815" "ALDH5A1_006109" "g.24533879G>A" "" "{PMID:27056292:Akiyama 2016}" "" "1586G>A (artikel)" "" "Germline" "" "" "0" "" "" "g.24533651G>A" "" "pathogenic (recessive)" "" "0000412173" "3" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000412174" "3" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000412175" "3" "99" "6" "24528285" "24528285" "subst" "3.24947E-5" "01815" "ALDH5A1_006068" "g.24528285C>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24528057C>T" "" "pathogenic (recessive)" "" "0000412176" "1" "99" "6" "24503579" "24503579" "subst" "0" "01815" "ALDH5A1_006111" "g.24503579G>A" "" "{PMID:Jiang 2013:23926001}" "" "" "" "Germline" "" "" "0" "" "" "g.24503351G>A" "" "pathogenic (recessive)" "" "0000412177" "2" "99" "6" "24505178" "24505178" "subst" "1.62451E-5" "01815" "ALDH5A1_006112" "g.24505178G>A" "" "{PMID:Jiang 2013:23926001}" "" "" "" "Germline" "" "" "0" "" "" "g.24504950G>A" "" "pathogenic (recessive)" "" "0000412178" "1" "99" "6" "24505125" "24505125" "subst" "0" "01815" "ALDH5A1_006113" "g.24505125G>T" "" "{PMID:Shu 2017:28186584}" "" "" "" "Germline" "" "" "0" "" "" "g.24504897G>T" "" "pathogenic (recessive)" "" "0000412179" "2" "99" "6" "24502796" "24502797" "del" "0" "01815" "ALDH5A1_006114" "g.24502796_24502797del" "" "{PMID:Shu 2017:28186584}" "" "398_399delAA" "" "Germline" "" "" "0" "" "" "g.24502568_24502569del" "" "pathogenic (recessive)" "" "0000412180" "3" "99" "6" "24505196" "24505196" "subst" "0.0113465" "01815" "ALDH5A1_006115" "g.24505196G>T" "" "{PMID:Akaboshi 2003:14635103}" "" "" "" "Germline" "" "" "0" "" "" "g.24504968G>T" "" "pathogenic (recessive)" "" "0000412181" "3" "99" "6" "24520659" "24520659" "subst" "0" "01815" "ALDH5A1_006116" "g.24520659A>G" "" "{PMID:P¸ttmann 2013:23825041}" "" "" "" "Germline" "" "" "0" "" "" "g.24520431A>G" "" "pathogenic (recessive)" "" "0000412182" "1" "99" "6" "24495560" "24495560" "subst" "0" "01815" "ALDH5A1_006017" "g.24495560G>A" "" "{PMID:Yamakawa 2012:21612881}" "" "366delG (W112fsX112)" "" "Germline" "" "" "0" "" "" "g.24495332G>A" "" "pathogenic (recessive)" "" "0000412183" "2" "99" "6" "24528345" "24528345" "subst" "0" "01815" "ALDH5A1_006117" "g.24528345A>C" "" "{PMID:Yamakawa 2012:21612881}" "" "" "" "Germline" "" "" "0" "" "" "g.24528117A>C" "" "pathogenic (recessive)" "" "0000412184" "1" "99" "6" "24532345" "24532345" "del" "0" "01815" "ALDH5A1_006118" "g.24532345del" "" "{PMID:Li 2015:26220405}" "" "1383-2Adel" "" "Germline" "" "" "0" "" "" "g.24532117del" "" "pathogenic (recessive)" "" "0000412185" "2" "99" "6" "24528325" "24528325" "subst" "0" "01815" "ALDH5A1_006119" "g.24528325T>C" "" "{PMID:Li 2015:26220405}" "" "1313T>C" "" "Germline" "" "" "0" "" "" "g.24528097T>C" "" "pathogenic (recessive)" "" "0000412186" "1" "99" "6" "24503548" "24503548" "subst" "0" "01815" "ALDH5A1_006120" "g.24503548T>C" "" "{PMID:Liu 2016:25431891}" "" "" "" "Germline" "" "" "0" "" "" "g.24503320T>C" "" "pathogenic (recessive)" "" "0000412187" "2" "99" "6" "24503641" "24503641" "subst" "4.48741E-5" "01815" "ALDH5A1_006121" "g.24503641G>A" "" "{PMID:Liu 2016:25431891}" "" "" "" "Germline" "" "" "0" "" "" "g.24503413G>A" "" "pathogenic (recessive)" "" "0000412188" "1" "99" "6" "24528277" "24528277" "subst" "2.84326E-5" "01815" "ALDH5A1_006067" "g.24528277G>A" "" "{PMID:Akaboshi 2003:14635103}, {PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24528049G>A" "" "pathogenic (recessive)" "" "0000412189" "2" "99" "6" "24533830" "24533830" "subst" "0" "01815" "ALDH5A1_006122" "g.24533830G>C" "" "{PMID:Leo 2017:28664505}" "" "" "" "Germline" "" "" "0" "" "" "g.24533602G>C" "" "pathogenic (recessive)" "" "0000412190" "1" "99" "6" "24495514" "24495534" "dup" "0" "01815" "ALDH5A1_006123" "g.24495514_24495534dup" "" "{PMID:Lin 2015:25246302}" "" "" "" "Germline" "" "" "0" "" "" "g.24495286_24495306dup" "" "pathogenic (recessive)" "" "0000412191" "2" "99" "6" "24505162" "24505167" "del" "0" "01815" "ALDH5A1_006124" "g.24505162_24505167del" "" "{PMID:Lin 2015:25246302}" "" "" "" "Germline" "" "" "0" "" "" "g.24504934_24504939del" "" "pathogenic (recessive)" "" "0000412192" "1" "99" "6" "24495347" "24495351" "dup" "0" "01815" "ALDH5A1_006090" "g.24495347_24495351dup" "" "{PMID:Li 2015:26220405}" "" "127_128InsGGCCC (L31PfsX62)" "" "Germline" "" "" "0" "" "" "g.24495119_24495123dup" "" "pathogenic (recessive)" "" "0000412193" "2" "99" "6" "24533900" "24533900" "subst" "0" "01815" "ALDH5A1_006125" "g.24533900C>T" "" "{PMID:Li 2015:26220405}" "" "" "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" "" "" "" "" "pathogenic (recessive)" "" "0000412194" "1" "99" "6" "24528395" "24528395" "del" "4.06398E-6" "01815" "ALDH5A1_006072" "g.24528395del" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS8+1delG" "" "Germline" "" "" "0" "" "" "g.24528167del" "" "pathogenic (recessive)" "" "0000412195" "2" "99" "6" "24528397" "24528397" "subst" "4.06402E-6" "01815" "ALDH5A1_006126" "g.24528397A>T" "" "{PMID:Akaboshi 2003:14635103}" "" "IVS8+3A>T" "" "Germline" "" "" "0" "" "" "g.24528169A>T" "" "pathogenic (recessive)" "" "0000412196" "3" "99" "6" "24533788" "24533789" "ins" "0" "01815" "ALDH5A1_006127" "g.24533788_24533789insGTCTCTGCCACTGGGCAGAGCAGCCCAGATCTGG" "" "{PMID:Kwok 2012:22437753}" "" "1456_1457Ins34" "" "Germline" "" "" "0" "" "" "g.24533560_24533561insGTCTCTGCCACTGGGCAGAGCAGCCCAGATCTGG" "" "pathogenic (recessive)" "" "0000412197" "1" "99" "6" "24503660" "24503660" "subst" "1.22936E-5" "01815" "ALDH5A1_006088" "g.24503660C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.24503432C>T" "" "pathogenic (recessive)" "" "0000412198" "2" "99" "6" "24515487" "24515487" "del" "5.685E-5" "01815" "ALDH5A1_006128" "g.24515487del" "" "" "" "858delT" "" "Germline" "" "" "0" "" "" "g.24515259del" "" "pathogenic (recessive)" "" "0000412199" "1" "99" "6" "24405120" "24557191" "del" "0" "01815" "ALDH5A1_006129" "g.(?_24405120)_(24557191_?)del" "" "{PMID:Li 2015:26220405}" "" "24405120 to 24557191 del" "0.15-Mb deletion on chromosome 6p22.3" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000412200" "2" "99" "6" "24533900" "24533900" "subst" "0" "01815" "ALDH5A1_006125" "g.24533900C>T" "" "{PMID:Li 2015:26220405}" "" "" "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" "" "" "" "" "pathogenic (recessive)" "" "0000528094" "0" "30" "6" "24447166" "24447166" "subst" "0.000357913" "01943" "ALDH5A1_006132" "g.24447166C>T" "" "" "" "GPLD1(NM_001503.3):c.1720G>A (p.E574K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24446938C>T" "" "likely benign" "" "0000528095" "0" "50" "6" "24450058" "24450058" "subst" "0.000113967" "01943" "ALDH5A1_006133" "g.24450058C>T" "" "" "" "GPLD1(NM_001503.3):c.1405G>A (p.V469M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24449830C>T" "" "VUS" "" "0000528096" "0" "30" "6" "24454292" "24454312" "del" "0" "01943" "ALDH5A1_006134" "g.24454292_24454312del" "" "" "" "GPLD1(NM_001503.3):c.1274_1294delGCCTGCCACCTGTTGACCTGG (p.G425_L431del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24454064_24454084del" "" "likely benign" "" "0000528097" "0" "30" "6" "24454393" "24454393" "subst" "0.000318604" "01943" "ALDH5A1_006135" "g.24454393G>A" "" "" "" "GPLD1(NM_001503.3):c.1185C>T (p.H395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24454165G>A" "" "likely benign" "" "0000528099" "0" "30" "6" "24495330" "24495330" "subst" "0.0407091" "01804" "ALDH5A1_006130" "g.24495330G>C" "" "" "" "ALDH5A1(NM_001080.3):c.106G>C (p.(Gly36Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24495102G>C" "" "likely benign" "" "0000528100" "0" "30" "6" "24503597" "24503597" "subst" "0.0381572" "01804" "ALDH5A1_006131" "g.24503597C>T" "" "" "" "ALDH5A1(NM_001080.3):c.545C>T (p.(Pro182Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24503369C>T" "" "likely benign" "" "0000528101" "0" "30" "6" "24503635" "24503635" "subst" "2.85193E-5" "01804" "ALDH5A1_006136" "g.24503635A>G" "" "" "" "ALDH5A1(NM_001080.3):c.583A>G (p.(Ile195Val)), ALDH5A1(NM_170740.1):c.583A>G (p.I195V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24503407A>G" "" "likely benign" "" "0000528104" "0" "30" "6" "24505220" "24505220" "subst" "5.68898E-5" "01943" "ALDH5A1_006139" "g.24505220C>T" "" "" "" "ALDH5A1(NM_170740.1):c.726+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24504992C>T" "" "likely benign" "" "0000528106" "0" "30" "6" "24523060" "24523060" "subst" "4.87432E-5" "01943" "ALDH5A1_006140" "g.24523060C>T" "" "" "" "ALDH5A1(NM_170740.1):c.1119C>T (p.F373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24522832C>T" "" "likely benign" "" "0000528108" "0" "30" "6" "24533811" "24533811" "subst" "0.00197755" "01943" "ALDH5A1_006142" "g.24533811C>T" "" "" "" "ALDH5A1(NM_170740.1):c.1518C>T (p.N506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24533583C>T" "" "likely benign" "" "0000610233" "0" "30" "6" "24520623" "24520623" "subst" "4.06319E-6" "01804" "ALDH5A1_006145" "g.24520623T>C" "" "" "" "ALDH5A1(NM_001080.3):c.871-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24520395T>C" "" "likely benign" "" "0000621680" "0" "30" "6" "24503658" "24503658" "subst" "1.63759E-5" "01943" "ALDH5A1_006143" "g.24503658C>A" "" "" "" "ALDH5A1(NM_170740.1):c.606C>A (p.T202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24503430C>A" "" "likely benign" "" "0000621681" "0" "50" "6" "24515530" "24515530" "subst" "0.00012183" "02325" "ALDH5A1_006144" "g.24515530A>G" "" "" "" "ALDH5A1(NM_001080.3):c.862A>G (p.(Thr288Ala)), ALDH5A1(NM_170740.1):c.901A>G (p.T301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24515302A>G" "" "VUS" "" "0000621682" "0" "50" "6" "24523086" "24523086" "subst" "1.21856E-5" "02325" "ALDH5A1_006141" "g.24523086G>A" "" "" "" "ALDH5A1(NM_170740.1):c.1145G>A (p.R382H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24522858G>A" "" "VUS" "" "0000621683" "0" "30" "6" "24528249" "24528249" "subst" "0.000174679" "01943" "ALDH5A1_006146" "g.24528249G>A" "" "" "" "ALDH5A1(NM_170740.1):c.1237G>A (p.V413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24528021G>A" "" "likely benign" "" "0000624875" "3" "90" "6" "24523025" "24523025" "subst" "0" "01807" "ALDH5A1_006064" "g.24523025C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.24522797C>T" "" "pathogenic" "" "0000651895" "1" "10" "6" "24505196" "24505196" "subst" "0.0113465" "03575" "ALDH5A1_006115" "g.24505196G>T" "47/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "47 heterozygous, no homozygous; {DB:CLININrs62621664}" "Germline" "" "rs62621664" "0" "" "" "g.24504968G>T" "" "benign" "" "0000651896" "1" "50" "6" "24520719" "24520719" "subst" "0.00335857" "03575" "ALDH5A1_000124" "g.24520719G>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs115784602}" "Germline" "" "rs115784602" "0" "" "" "g.24520491G>A" "" "VUS" "" "0000651897" "1" "90" "6" "24528277" "24528277" "subst" "2.84326E-5" "03575" "ALDH5A1_006067" "g.24528277G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs118203984}" "Germline" "" "rs118203984" "0" "" "" "g.24528049G>A" "" "pathogenic" "" "0000670906" "0" "90" "6" "24495499" "24495499" "subst" "0" "01815" "ALDH5A1_006147" "g.24495499A>G" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670907" "0" "90" "6" "24495501" "24495501" "subst" "0" "01815" "ALDH5A1_006148" "g.24495501T>C" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670908" "0" "50" "6" "24495578" "24495578" "subst" "8.12559E-6" "01815" "ALDH5A1_006149" "g.24495578G>C" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed normal SSADH activity. This variant may affect splicing." "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670909" "0" "90" "6" "24502767" "24502767" "subst" "0" "01815" "ALDH5A1_006150" "g.24502767T>G" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670910" "0" "70" "6" "24502827" "24502827" "subst" "0" "01815" "ALDH5A1_006151" "g.24502827C>A" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed reduced SSADH activity: see discussion in article" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670911" "0" "90" "6" "24503588" "24503588" "subst" "0" "01815" "ALDH5A1_006152" "g.24503588T>A" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670912" "0" "90" "6" "24503611" "24503611" "subst" "0" "01815" "ALDH5A1_006153" "g.24503611C>G" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670913" "0" "90" "6" "24503633" "24503633" "subst" "0" "01815" "ALDH5A1_006154" "g.24503633C>T" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670914" "0" "90" "6" "24503660" "24503660" "subst" "0" "01815" "ALDH5A1_006155" "g.24503660C>G" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670915" "0" "90" "6" "24505107" "24505107" "subst" "0" "01815" "ALDH5A1_006156" "g.24505107C>T" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670916" "0" "90" "6" "24505109" "24505109" "subst" "8.12137E-6" "01815" "ALDH5A1_006157" "g.24505109A>C" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670917" "0" "90" "6" "24505124" "24505124" "subst" "0" "01815" "ALDH5A1_006158" "g.24505124C>G" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670918" "0" "90" "6" "24505140" "24505140" "subst" "0" "01815" "ALDH5A1_006159" "g.24505140C>A" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670919" "0" "90" "6" "24505172" "24505172" "subst" "0" "01815" "ALDH5A1_006160" "g.24505172C>T" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670920" "0" "70" "6" "24505196" "24505196" "subst" "2.84373E-5" "01815" "ALDH5A1_006161" "g.24505196G>A" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed reduced SSADH activity: see discussion in article" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670921" "0" "90" "6" "24515422" "24515422" "subst" "0" "01815" "ALDH5A1_006162" "g.24515422G>T" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670922" "0" "90" "6" "24515423" "24515423" "subst" "0" "01815" "ALDH5A1_006163" "g.24515423G>T" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670923" "0" "90" "6" "24515519" "24515519" "subst" "0" "01815" "ALDH5A1_006164" "g.24515519G>A" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670924" "0" "90" "6" "24528375" "24528375" "subst" "0" "01815" "ALDH5A1_006165" "g.24528375C>T" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670925" "0" "90" "6" "24533810" "24533810" "subst" "1.21819E-5" "01815" "ALDH5A1_006166" "g.24533810A>G" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670926" "0" "90" "6" "24533840" "24533840" "subst" "0" "01815" "ALDH5A1_006167" "g.24533840C>G" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000670927" "0" "90" "6" "24533924" "24533924" "subst" "8.12156E-6" "01815" "ALDH5A1_006168" "g.24533924G>A" "" "{PMID:Popp 2020:32402538}, {DOI:Pop 2020:10.1016/j.ymgme.2020.04.004}" "" "" "overexpression in HEK293 cells showed severely impaired SSADH activity (below 15%)" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000677703" "0" "50" "6" "24503635" "24503635" "subst" "2.85193E-5" "01943" "ALDH5A1_006136" "g.24503635A>G" "" "" "" "ALDH5A1(NM_001080.3):c.583A>G (p.(Ile195Val)), ALDH5A1(NM_170740.1):c.583A>G (p.I195V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689689" "0" "50" "6" "24437397" "24437397" "subst" "0" "01943" "ALDH5A1_006169" "g.24437397C>T" "" "" "" "GPLD1(NM_001503.3):c.2141G>A (p.R714H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689690" "0" "50" "6" "24515530" "24515530" "subst" "0.00012183" "01943" "ALDH5A1_006144" "g.24515530A>G" "" "" "" "ALDH5A1(NM_001080.3):c.862A>G (p.(Thr288Ala)), ALDH5A1(NM_170740.1):c.901A>G (p.T301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720812" "0" "30" "6" "24503584" "24503584" "subst" "1.21929E-5" "01943" "ALDH5A1_006170" "g.24503584A>G" "" "" "" "ALDH5A1(NM_170740.1):c.532A>G (p.I178V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720813" "0" "30" "6" "24523086" "24523086" "subst" "1.21856E-5" "01943" "ALDH5A1_006141" "g.24523086G>A" "" "" "" "ALDH5A1(NM_170740.1):c.1145G>A (p.R382H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787197" "3" "50" "6" "24503660" "24503660" "subst" "1.22936E-5" "00006" "ALDH5A1_006088" "g.24503660C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs906284769" "0" "" "" "g.24503432C>T" "" "VUS" "" "0000791039" "3" "70" "6" "24533815" "24533815" "subst" "0" "01164" "ALDH5A1_006171" "g.24533815G>T" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000802455" "0" "30" "6" "24495354" "24495354" "subst" "0.000395883" "01943" "ALDH5A1_006172" "g.24495354C>G" "" "" "" "ALDH5A1(NM_170740.1):c.130C>G (p.L44V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802456" "0" "50" "6" "24503657" "24503657" "subst" "0.000135067" "01943" "ALDH5A1_006173" "g.24503657C>T" "" "" "" "ALDH5A1(NM_170740.1):c.605C>T (p.T202I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000836773" "3" "70" "6" "24505185" "24505185" "subst" "0" "02494" "ALDH5A1_006048" "g.24505185C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "" "0000841151" "3" "90" "6" "24523025" "24523025" "subst" "0" "00006" "ALDH5A1_006064" "g.24523025C>T" "" "{PMID:Froukh 2020:32056211}" "" "NM_170740.1:c.1084C>T" "" "Germline" "" "" "0" "" "" "g.24522797C>T" "" "pathogenic (recessive)" "" "0000851144" "0" "50" "6" "24495399" "24495399" "subst" "0" "01943" "ALDH5A1_006174" "g.24495399C>T" "" "" "" "ALDH5A1(NM_170740.1):c.175C>T (p.L59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851145" "0" "50" "6" "24505196" "24505196" "subst" "2.84373E-5" "01943" "ALDH5A1_006049" "g.24505196G>A" "" "" "" "ALDH5A1(NM_170740.1):c.709G>A (p.A237T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851146" "0" "50" "6" "24532351" "24532351" "subst" "0.000544238" "01943" "ALDH5A1_006177" "g.24532351G>A" "" "" "" "ALDH5A1(NM_170740.1):c.1387G>A (p.D463N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860258" "0" "50" "6" "24503636" "24503636" "subst" "4.07554E-6" "01943" "ALDH5A1_006175" "g.24503636T>C" "" "" "" "ALDH5A1(NM_170740.1):c.584T>C (p.I195T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860259" "0" "90" "6" "24523154" "24523154" "subst" "0" "01943" "ALDH5A1_006176" "g.24523154G>T" "" "" "" "ALDH5A1(NM_170740.1):c.1212+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887130" "0" "90" "6" "24505108" "24505108" "del" "0" "02329" "ALDH5A1_006041" "g.24505108del" "" "" "" "ALDH5A1(NM_170740.1):c.621delC (p.S208Vfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929163" "0" "90" "6" "24528374" "24528374" "dup" "0" "02329" "ALDH5A1_006070" "g.24528374dup" "" "" "" "ALDH5A1(NM_170740.1):c.1362dupG (p.P455Afs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000933924" "0" "70" "6" "24505187" "24505187" "subst" "0" "03779" "ALDH5A1_006178" "g.24505187C>T" "" "" "" "" "" "Unknown" "" "rs1386328721" "0" "" "" "" "" "likely pathogenic" "" "0000933925" "0" "90" "6" "24505099" "24505099" "subst" "4.46675E-5" "03779" "ALDH5A1_006039" "g.24505099G>A" "" "" "" "" "" "Unknown" "" "rs118203982" "0" "" "" "" "" "pathogenic" "" "0000963958" "0" "70" "6" "24502835" "24502840" "del" "0" "02329" "ALDH5A1_006179" "g.24502835_24502840del" "" "" "" "ALDH5A1(NM_001080.3):c.435_438+2delAAGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977116" "0" "90" "6" "24502835" "24502840" "del" "0" "02326" "ALDH5A1_006179" "g.24502835_24502840del" "" "" "" "ALDH5A1(NM_001080.3):c.435_438+2delAAGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977117" "0" "30" "6" "24503532" "24503532" "subst" "0.00048012" "01804" "ALDH5A1_006180" "g.24503532C>T" "" "" "" "ALDH5A1(NM_001080.3):c.480C>T (p.(Ser160=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977118" "0" "70" "6" "24505155" "24505155" "subst" "0" "02329" "ALDH5A1_006046" "g.24505155G>A" "" "" "" "ALDH5A1(NM_170740.1):c.668G>A (p.C223Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977119" "0" "50" "6" "24515429" "24515429" "subst" "4.06072E-6" "01804" "ALDH5A1_006181" "g.24515429A>G" "" "" "" "ALDH5A1(NM_001080.3):c.761A>G (p.(Tyr254Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977120" "0" "50" "6" "24515530" "24515530" "subst" "0.00012183" "01804" "ALDH5A1_006144" "g.24515530A>G" "" "" "" "ALDH5A1(NM_001080.3):c.862A>G (p.(Thr288Ala)), ALDH5A1(NM_170740.1):c.901A>G (p.T301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995593" "0" "50" "6" "24454335" "24454335" "subst" "3.25179E-5" "01804" "ALDH5A1_006182" "g.24454335G>A" "" "" "" "GPLD1(NM_001503.3):c.1243C>T (p.(Arg415Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995594" "0" "50" "6" "24460507" "24460507" "subst" "1.62619E-5" "01804" "ALDH5A1_006183" "g.24460507C>T" "" "" "" "GPLD1(NM_001503.3):c.1008G>A (p.(Pro336Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025198" "0" "50" "6" "24520719" "24520719" "subst" "0.00335857" "01943" "ALDH5A1_000124" "g.24520719G>A" "" "" "" "ALDH5A1(NM_170740.1):c.1000G>A (p.V334M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035641" "0" "50" "6" "24502833" "24502833" "subst" "0" "01804" "ALDH5A1_006184" "g.24502833G>A" "" "" "" "ALDH5A1(NM_001080.3):c.437G>A (p.(Ser146Asn))" "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 ALDH5A1 ## Count = 1079 "{{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}}" "0000001102" "00024199" "50" "1645" "0" "1645" "0" "c.1645T>C" "r.(?)" "p.(*549Glnext*6)" "11" "0000001102" "00000139" "50" "1606" "0" "1606" "0" "c.1606T>C" "r.(?)" "p.(*536Glnext*6)" "" "0000259019" "00024199" "10" "10" "0" "10" "0" "c.10T>G" "r.(?)" "p.(Cys4Gly)" "" "0000259019" "00000139" "10" "10" "0" "10" "0" "c.10T>G" "r.(?)" "p.(Cys4Gly)" "" "0000259020" "00024199" "10" "1441" "7" "1441" "7" "c.1441+7G>A" "r.(=)" "p.(=)" "" "0000259020" "00000139" "10" "1402" "7" "1402" "7" "c.1402+7G>A" "r.(=)" "p.(=)" "" "0000259021" "00024199" "10" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(His180Tyr)" "" "0000259021" "00000139" "10" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(His180Tyr)" "" "0000259022" "00024199" "10" "678" "0" "678" "0" "c.678G>C" "r.(?)" "p.(Val226=)" "" "0000259022" "00000139" "10" "678" "0" "678" "0" "c.678G>C" "r.(?)" "p.(Val226=)" "" "0000259023" "00024199" "10" "726" "8" "726" "8" "c.726+8G>A" "r.(=)" "p.(=)" "" "0000259023" "00000139" "10" "726" "8" "726" "8" "c.726+8G>A" "r.(=)" "p.(=)" "" "0000259449" "00024199" "30" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Val334Met)" "" "0000259449" "00000139" "30" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Val321Met)" "" "0000259450" "00024199" "30" "1203" "0" "1203" "0" "c.1203G>C" "r.(?)" "p.(Ala401=)" "" "0000259450" "00000139" "30" "1164" "0" "1164" "0" "c.1164G>C" "r.(?)" "p.(Ala388=)" "" "0000259451" "00024199" "30" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Val419Ile)" "" "0000259451" "00000139" "30" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Val406Ile)" "" "0000259452" "00024199" "30" "1428" "0" "1428" "0" "c.1428T>C" "r.(?)" "p.(Asp476=)" "" "0000259452" "00000139" "30" "1389" "0" "1389" "0" "c.1389T>C" "r.(?)" "p.(Asp463=)" "" "0000259453" "00024199" "30" "924" "0" "924" "0" "c.924C>T" "r.(?)" "p.(His308=)" "" "0000259453" "00000139" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(His295=)" "" "0000259637" "00024199" "50" "-11" "0" "-11" "0" "c.-11T>C" "r.(?)" "p.(=)" "" "0000259637" "00000139" "50" "-11" "0" "-11" "0" "c.-11T>C" "r.(?)" "p.(=)" "" "0000259723" "00024199" "70" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Met)" "" "0000259723" "00000139" "70" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Met)" "" "0000262217" "00024199" "30" "678" "0" "678" "0" "c.678G>C" "r.(?)" "p.(Val226=)" "" "0000262217" "00000139" "30" "678" "0" "678" "0" "c.678G>C" "r.(?)" "p.(Val226=)" "" "0000330827" "00024199" "50" "-65883" "0" "-65883" "0" "c.-65883del" "r.(?)" "p.(=)" "" "0000330827" "00000139" "50" "-65883" "0" "-65883" "0" "c.-65883del" "r.(?)" "p.(=)" "" "0000330829" "00024199" "50" "-48138" "0" "-48138" "0" "c.-48138G>A" "r.(?)" "p.(=)" "" "0000330829" "00000139" "50" "-48138" "0" "-48138" "0" "c.-48138G>A" "r.(?)" "p.(=)" "" "0000330830" "00024199" "50" "354" "0" "354" "0" "c.354G>C" "r.(?)" "p.(Lys118Asn)" "" "0000330830" "00000139" "50" "354" "0" "354" "0" "c.354G>C" "r.(?)" "p.(Lys118Asn)" "" "0000330831" "00024199" "50" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Ala401Val)" "" "0000330831" "00000139" "50" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Ala388Val)" "" "0000330832" "00024199" "50" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000330832" "00000139" "50" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "" "0000330833" "00024199" "50" "1574" "0" "1574" "0" "c.1574T>G" "r.(?)" "p.(Leu525Arg)" "" "0000330833" "00000139" "50" "1535" "0" "1535" "0" "c.1535T>G" "r.(?)" "p.(Leu512Arg)" "" "0000343759" "00024199" "50" "1319" "0" "1319" "0" "c.1319A>G" "r.(?)" "p.(Asn440Ser)" "" "0000343759" "00000139" "50" "1280" "0" "1280" "0" "c.1280A>G" "r.(?)" "p.(Asn427Ser)" "" "0000350488" "00024199" "10" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Val334Met)" "" "0000350488" "00000139" "10" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Val321Met)" "" "0000411546" "00024199" "00" "34" "0" "34" "0" "c.34dup" "r.(?)" "p.(Ala12Glyfs*124)" "" "0000411546" "00000139" "99" "34" "0" "34" "0" "c.34dup" "r.(?)" "p.(Ala12fs*123)" "1" "0000411547" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411547" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411548" "00024199" "00" "103" "0" "121" "0" "c.103_121del" "r.(?)" "p.(Ser35Argfs*50)" "" "0000411548" "00000139" "99" "103" "0" "121" "0" "c.103_121del" "r.(?)" "p.(Ser35fs*49)" "1" "0000411549" "00024199" "00" "1499" "0" "1499" "0" "c.1499T>A" "r.(?)" "p.(Val500Glu)" "" "0000411549" "00000139" "99" "1460" "0" "1460" "0" "c.1460T>A" "r.(?)" "p.(Val487Glu)" "10" "0000411550" "00024199" "00" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Gln79*)" "" "0000411550" "00000139" "99" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Gln79*)" "1" "0000411551" "00024199" "00" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Gln79*)" "" "0000411551" "00000139" "99" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Gln79*)" "1" "0000411552" "00024199" "00" "278" "0" "298" "0" "c.278_298dup" "r.(?)" "p.(Arg99_Ala100insGlyGlyValArgGluAlaArg)" "" "0000411552" "00000139" "99" "278" "0" "298" "0" "c.278_298dup" "r.(?)" "p.(Cys93_Arg99dup)" "1" "0000411553" "00024199" "00" "1184" "0" "1184" "0" "c.1184C>T" "r.(?)" "p.(Pro395Leu)" "" "0000411553" "00000139" "99" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Pro382Leu)" "7" "0000411554" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411554" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411555" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411555" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411556" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411556" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411557" "00024199" "00" "909" "1" "909" "1" "c.909+1G>T" "r.spl?" "p.?" "" "0000411557" "00000139" "99" "870" "1" "870" "1" "c.870+1G>T" "r.spl" "p.?" "5i" "0000411558" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411558" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411559" "00024199" "00" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Arg)" "" "0000411559" "00000139" "99" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Gly533Arg)" "10" "0000411560" "00024199" "00" "384" "0" "384" "0" "c.384C>G" "r.(?)" "p.(Tyr128*)" "" "0000411560" "00000139" "99" "384" "0" "384" "0" "c.384C>G" "r.(?)" "p.(Tyr128*)" "2" "0000411561" "00024199" "00" "384" "0" "384" "0" "c.384C>G" "r.(?)" "p.(Tyr128*)" "" "0000411561" "00000139" "99" "384" "0" "384" "0" "c.384C>G" "r.(?)" "p.(Tyr128*)" "2" "0000411562" "00024199" "00" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153Argfs*13)" "" "0000411562" "00000139" "99" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153fs*12)" "3" "0000411563" "00024199" "00" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153Argfs*13)" "" "0000411563" "00000139" "99" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153fs*12)" "3" "0000411564" "00024199" "00" "461" "0" "474" "0" "c.461_474del" "r.(?)" "p.(His154Leufs*11)" "" "0000411564" "00000139" "99" "461" "0" "474" "0" "c.461_474del" "r.(?)" "p.(His154LeufsTer11)" "3" "0000411565" "00024199" "00" "461" "0" "474" "0" "c.461_474del" "r.(?)" "p.(His154Leufs*11)" "" "0000411565" "00000139" "99" "461" "0" "474" "0" "c.461_474del" "r.(?)" "p.(His154LeufsTer11)" "3" "0000411566" "00024199" "00" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "" "0000411566" "00000139" "99" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "3" "0000411567" "00024199" "00" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "" "0000411567" "00000139" "99" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "3" "0000411568" "00024199" "00" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "" "0000411568" "00000139" "99" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "3" "0000411569" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411569" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411570" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411570" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411571" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411571" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411572" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411572" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411573" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411573" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411574" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411574" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411575" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411575" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411576" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411576" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411577" "00024199" "00" "1044" "0" "1044" "0" "c.1044C>A" "r.(?)" "p.(Asn348Lys)" "" "0000411577" "00000139" "99" "1005" "0" "1005" "0" "c.1005C>A" "r.(?)" "p.(Asn335Lys)" "6" "0000411578" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411578" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411579" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411579" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411580" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411580" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411581" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411581" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411582" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411582" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411583" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411583" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411584" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411584" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411585" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000411585" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000411586" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000411586" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000411587" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411587" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411588" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411588" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411589" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411589" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411590" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411590" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411591" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411591" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411592" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411592" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411593" "00024199" "00" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Asn268Ser)" "" "0000411593" "00000139" "99" "764" "0" "764" "0" "c.764A>G" "r.(?)" "p.(Asn255Ser)" "5" "0000411594" "00024199" "00" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274*)" "" "0000411594" "00000139" "99" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261*)" "5" "0000411595" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411595" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411596" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411596" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411597" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411597" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411598" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411598" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411599" "00024199" "00" "34" "0" "34" "0" "c.34dup" "r.(?)" "p.(Ala12Glyfs*124)" "" "0000411599" "00000139" "99" "34" "0" "34" "0" "c.34dup" "r.(?)" "p.(Ala12fs*123)" "1" "0000411600" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411600" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411601" "00024199" "00" "356" "0" "909" "1" "c.356_909+1del" "r.spl?" "p.(Glu119_Lys303del)" "" "0000411601" "00000139" "99" "356" "0" "870" "1" "c.356_870+1del" "r.355_870del" "p.(Glu119_Lys290del)" "1i_5i" "0000411602" "00024199" "00" "1184" "0" "1184" "0" "c.1184C>A" "r.(?)" "p.(Pro395Gln)" "" "0000411602" "00000139" "99" "1145" "0" "1145" "0" "c.1145C>A" "r.(?)" "p.(Pro382Gln)" "7" "0000411603" "00024199" "00" "1184" "0" "1184" "0" "c.1184C>A" "r.(?)" "p.(Pro395Gln)" "" "0000411603" "00000139" "99" "1145" "0" "1145" "0" "c.1145C>A" "r.(?)" "p.(Pro382Gln)" "7" "0000411604" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411604" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411605" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411605" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411606" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411606" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411607" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411607" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411608" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411608" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411609" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411609" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411610" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411610" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411611" "00024199" "00" "438" "1" "438" "1" "c.438+1G>A" "r.spl?" "p.?" "" "0000411611" "00000139" "99" "438" "1" "438" "1" "c.438+1G>A" "r.spl" "p.?" "2i" "0000411612" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411612" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411613" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411613" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411614" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411614" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411615" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411615" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411616" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411616" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411617" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411617" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411618" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411618" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411619" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411619" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411620" "00024199" "00" "1362" "0" "1362" "0" "c.1362dup" "r.(?)" "p.(Pro455Alafs*19)" "" "0000411620" "00000139" "99" "1323" "0" "1323" "0" "c.1323dup" "r.(?)" "p.(Pro442Alafs*19)" "8" "0000411621" "00024199" "00" "1362" "0" "1362" "0" "c.1362dup" "r.(?)" "p.(Pro455Alafs*19)" "" "0000411621" "00000139" "99" "1323" "0" "1323" "0" "c.1323dup" "r.(?)" "p.(Pro442Alafs*19)" "8" "0000411622" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411622" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411623" "00024199" "00" "164" "0" "165" "0" "c.164_165del" "r.(?)" "p.(Ser55Cysfs*80)" "" "0000411623" "00000139" "99" "164" "0" "165" "0" "c.164_165del" "r.(?)" "p.(Ser55CysfsTer80)" "1" "0000411624" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411624" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411625" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411625" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411626" "00024199" "00" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Arg)" "" "0000411626" "00000139" "99" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Gly533Arg)" "10" "0000411627" "00024199" "00" "164" "0" "165" "0" "c.164_165del" "r.(?)" "p.(Ser55Cysfs*80)" "" "0000411627" "00000139" "99" "164" "0" "165" "0" "c.164_165del" "r.(?)" "p.(Ser55CysfsTer80)" "1" "0000411628" "00024199" "00" "610" "-2" "610" "-2" "c.610-2A>G" "r.spl?" "p.?" "" "0000411628" "00000139" "99" "610" "-2" "610" "-2" "c.610-2A>G" "r.439_452del" "p.?" "3i" "0000411629" "00024199" "00" "574" "0" "574" "0" "c.574A>T" "r.(?)" "p.(Lys192*)" "" "0000411629" "00000139" "99" "574" "0" "574" "0" "c.574A>T" "r.(?)" "p.(Lys192*)" "3" "0000411630" "00024199" "00" "610" "-2" "610" "-2" "c.610-2A>G" "r.spl?" "p.?" "" "0000411630" "00000139" "99" "610" "-2" "610" "-2" "c.610-2A>G" "r.439_452del" "p.?" "3i" "0000411631" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411631" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411632" "00024199" "00" "909" "1" "909" "1" "c.909+1G>A" "r.spl?" "p.?" "" "0000411632" "00000139" "99" "870" "1" "870" "1" "c.870+1G>A" "r.spl" "p.?" "5i" "0000411633" "00024199" "00" "909" "1" "909" "1" "c.909+1G>A" "r.spl?" "p.?" "" "0000411633" "00000139" "99" "870" "1" "870" "1" "c.870+1G>A" "r.spl" "p.?" "5i" "0000411634" "00024199" "00" "909" "1" "909" "1" "c.909+1G>T" "r.spl?" "p.?" "" "0000411634" "00000139" "99" "870" "1" "870" "1" "c.870+1G>T" "r.spl" "p.?" "5i" "0000411635" "00024199" "00" "909" "1" "909" "1" "c.909+1G>T" "r.spl?" "p.?" "" "0000411635" "00000139" "99" "870" "1" "870" "1" "c.870+1G>T" "r.spl" "p.?" "5i" "0000411636" "00024199" "00" "1054" "-2" "1054" "-2" "c.1054-2A>C" "r.spl?" "p.?" "" "0000411636" "00000139" "99" "1015" "-2" "1015" "-2" "c.1015-2A>C" "r.spl" "p.?" "6i" "0000411637" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411637" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411638" "00024199" "00" "1382" "1" "1382" "1" "c.1382+1del" "r.spl?" "p.?" "" "0000411638" "00000139" "99" "1343" "1" "1343" "1" "c.1343+1del" "r.spl" "p.?" "8i" "0000411639" "00024199" "00" "1382" "1" "1382" "1" "c.1382+1del" "r.spl?" "p.?" "" "0000411639" "00000139" "99" "1343" "1" "1343" "1" "c.1343+1del" "r.spl" "p.?" "8i" "0000411640" "00024199" "00" "1382" "1" "1382" "1" "c.1382+1del" "r.spl?" "p.?" "" "0000411640" "00000139" "99" "1343" "1" "1343" "1" "c.1343+1del" "r.spl" "p.?" "8i" "0000411641" "00024199" "00" "1382" "1" "1382" "1" "c.1382+1del" "r.spl?" "p.?" "" "0000411641" "00000139" "99" "1343" "1" "1343" "1" "c.1343+1del" "r.spl" "p.?" "8i" "0000411642" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411642" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411643" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411643" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411644" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411644" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411645" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411645" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411646" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411646" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411647" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411647" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411648" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411648" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411649" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411649" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411650" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411650" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411651" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411651" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411652" "00024199" "00" "1505" "0" "1511" "0" "c.1505_1511del" "r.(?)" "p.(Met502Thrfs*6)" "" "0000411652" "00000139" "99" "1466" "0" "1472" "0" "c.1466_1472del" "r.(?)" "p.(?)" "10" "0000411653" "00024199" "00" "1505" "0" "1511" "0" "c.1505_1511del" "r.(?)" "p.(Met502Thrfs*6)" "" "0000411653" "00000139" "99" "1466" "0" "1472" "0" "c.1466_1472del" "r.(?)" "p.(?)" "10" "0000411654" "00024199" "00" "1505" "0" "1511" "0" "c.1505_1511del" "r.(?)" "p.(Met502Thrfs*6)" "" "0000411654" "00000139" "99" "1466" "0" "1472" "0" "c.1466_1472del" "r.(?)" "p.(?)" "10" "0000411655" "00024199" "00" "1505" "0" "1511" "0" "c.1505_1511del" "r.(?)" "p.(Met502Thrfs*6)" "" "0000411655" "00000139" "99" "1466" "0" "1472" "0" "c.1466_1472del" "r.(?)" "p.(?)" "10" "0000411656" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411656" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411657" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411657" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411658" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411658" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411659" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411659" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411660" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411660" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411663" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411663" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411664" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411664" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411665" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411665" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411666" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411666" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411667" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411667" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411668" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411668" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411670" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411670" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411671" "00024199" "00" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Gly546Glu)" "" "0000411671" "00000139" "99" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Arg)" "10" "0000411672" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411672" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411673" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411673" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411674" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411674" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411675" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411675" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411676" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411676" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411681" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411681" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411682" "00024199" "00" "909" "1" "909" "1" "c.909+1G>T" "r.spl?" "p.?" "" "0000411682" "00000139" "99" "870" "1" "870" "1" "c.870+1G>T" "r.spl" "p.?" "5i" "0000411683" "00024199" "00" "909" "1" "909" "1" "c.909+1G>T" "r.spl?" "p.?" "" "0000411683" "00000139" "99" "870" "1" "870" "1" "c.870+1G>T" "r.spl" "p.?" "5i" "0000411684" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411684" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411685" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411685" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411686" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411686" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411688" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411688" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411689" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411689" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411692" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411692" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411693" "00024199" "00" "438" "1" "438" "1" "c.438+1G>A" "r.spl?" "p.?" "" "0000411693" "00000139" "99" "438" "1" "438" "1" "c.438+1G>A" "r.spl" "p.?" "2i" "0000411694" "00024199" "00" "438" "1" "438" "1" "c.438+1G>A" "r.spl?" "p.?" "" "0000411694" "00000139" "99" "438" "1" "438" "1" "c.438+1G>A" "r.spl" "p.?" "2i" "0000411695" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411695" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411696" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411696" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411697" "00024199" "00" "438" "1" "438" "1" "c.438+1G>A" "r.spl?" "p.?" "" "0000411697" "00000139" "99" "438" "1" "438" "1" "c.438+1G>A" "r.spl" "p.?" "2i" "0000411698" "00024199" "00" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "" "0000411698" "00000139" "99" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "3" "0000411699" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411699" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411700" "00024199" "00" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "" "0000411700" "00000139" "99" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "3" "0000411701" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411701" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411702" "00024199" "00" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "" "0000411702" "00000139" "99" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "3" "0000411703" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411703" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411704" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411704" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411705" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411705" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411706" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411706" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411707" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411707" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411708" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411708" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411711" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411711" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411712" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411712" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411713" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411713" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411714" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411714" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411715" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411715" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411716" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411716" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411717" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411717" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411718" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411718" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411719" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411719" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411720" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411720" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411721" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411721" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411722" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411722" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411723" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411723" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411724" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411724" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411725" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411725" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411726" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411726" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411727" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411727" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411728" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411728" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411729" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411729" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411730" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411730" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411731" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411731" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411732" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411732" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411733" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411733" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411735" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411735" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411736" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411736" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411739" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411739" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411740" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411740" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411741" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411741" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411742" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411742" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411743" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411743" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411744" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411744" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411745" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411745" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411746" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411746" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411747" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411747" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411748" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411748" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411749" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411749" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411750" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411750" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411751" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411751" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411752" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411752" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411753" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411753" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411754" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411754" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411755" "00024199" "00" "1184" "0" "1184" "0" "c.1184C>A" "r.(?)" "p.(Pro395Gln)" "" "0000411755" "00000139" "99" "1145" "0" "1145" "0" "c.1145C>A" "r.(?)" "p.(Pro382Gln)" "7" "0000411756" "00024199" "00" "1184" "0" "1184" "0" "c.1184C>A" "r.(?)" "p.(Pro395Gln)" "" "0000411756" "00000139" "99" "1145" "0" "1145" "0" "c.1145C>A" "r.(?)" "p.(Pro382Gln)" "7" "0000411757" "00024199" "00" "1184" "0" "1184" "0" "c.1184C>A" "r.(?)" "p.(Pro395Gln)" "" "0000411757" "00000139" "99" "1145" "0" "1145" "0" "c.1145C>A" "r.(?)" "p.(Pro382Gln)" "7" "0000411758" "00024199" "00" "1184" "0" "1184" "0" "c.1184C>A" "r.(?)" "p.(Pro395Gln)" "" "0000411758" "00000139" "99" "1145" "0" "1145" "0" "c.1145C>A" "r.(?)" "p.(Pro382Gln)" "7" "0000411760" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411760" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411761" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411761" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411762" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411762" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411765" "00024199" "00" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527*)" "" "0000411765" "00000139" "99" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "10" "0000411767" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411767" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411768" "00024199" "00" "1054" "-2" "1054" "-2" "c.1054-2A>C" "r.spl?" "p.?" "" "0000411768" "00000139" "99" "1015" "-2" "1015" "-2" "c.1015-2A>C" "r.spl" "p.?" "6i" "0000411769" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411769" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411770" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411770" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411771" "00024199" "00" "438" "1" "438" "1" "c.438+1G>A" "r.spl?" "p.?" "" "0000411771" "00000139" "99" "438" "1" "438" "1" "c.438+1G>A" "r.spl" "p.?" "2i" "0000411773" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411773" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411775" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411775" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411776" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411776" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411778" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411778" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411780" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411780" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411781" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411781" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411790" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411790" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411791" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000411791" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000411792" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411792" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411793" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411793" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411794" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411794" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411795" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411795" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411796" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411796" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411804" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411804" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411805" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411805" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411817" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411817" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411818" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411818" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411819" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411819" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411820" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411820" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411821" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411821" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411822" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411822" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411823" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411823" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411824" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411824" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411831" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411831" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411832" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411832" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411834" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411834" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411836" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411836" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411837" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411837" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411838" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411838" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411839" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000411839" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000411840" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000411840" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000411841" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000411841" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000411842" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000411842" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000411843" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000411843" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000411844" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000411844" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000411845" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411845" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411846" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411846" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411847" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411847" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411848" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411848" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411861" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411861" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411862" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411862" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411863" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411863" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411864" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411864" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411870" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411870" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411871" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411871" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411872" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411872" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411874" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411874" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411877" "00024199" "00" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274*)" "" "0000411877" "00000139" "99" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261*)" "5" "0000411878" "00024199" "00" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274*)" "" "0000411878" "00000139" "99" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261*)" "5" "0000411880" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411880" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411881" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411881" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411882" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411882" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411883" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411883" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411884" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411884" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411885" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000411885" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000411886" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411886" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411889" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411889" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411890" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411890" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411891" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000411891" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000411899" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411899" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411900" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411900" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411901" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411901" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411902" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411902" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411903" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411903" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411904" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411904" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411905" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411905" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411906" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411906" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411907" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411907" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411908" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411908" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411909" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411909" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411910" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411910" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411912" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411912" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411915" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411915" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411916" "00024199" "00" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153Argfs*13)" "" "0000411916" "00000139" "99" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153fs*12)" "3" "0000411917" "00024199" "00" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153Argfs*13)" "" "0000411917" "00000139" "99" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153fs*12)" "3" "0000411918" "00024199" "00" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153Argfs*13)" "" "0000411918" "00000139" "99" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153fs*12)" "3" "0000411919" "00024199" "00" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153Argfs*13)" "" "0000411919" "00000139" "99" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153fs*12)" "3" "0000411920" "00024199" "00" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153Argfs*13)" "" "0000411920" "00000139" "99" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153fs*12)" "3" "0000411921" "00024199" "00" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153Argfs*13)" "" "0000411921" "00000139" "99" "455" "0" "456" "0" "c.455_456dup" "r.(?)" "p.(Ala153fs*12)" "3" "0000411922" "00024199" "00" "574" "0" "574" "0" "c.574A>T" "r.(?)" "p.(Lys192*)" "" "0000411922" "00000139" "99" "574" "0" "574" "0" "c.574A>T" "r.(?)" "p.(Lys192*)" "3" "0000411924" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411924" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411925" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411925" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411926" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411926" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411927" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411927" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411936" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411936" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411937" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000411937" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000411938" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411938" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411939" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411939" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411940" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411940" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411941" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411941" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411942" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411942" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411943" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411943" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411944" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411944" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411945" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411945" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411952" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411952" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411953" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411953" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411954" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411954" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411955" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411955" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411958" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000411958" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000411960" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411960" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411961" "00024199" "00" "610" "-2" "610" "-2" "c.610-2A>G" "r.spl?" "p.?" "" "0000411961" "00000139" "99" "610" "-2" "610" "-2" "c.610-2A>G" "r.439_452del" "p.?" "3i" "0000411962" "00024199" "00" "610" "-2" "610" "-2" "c.610-2A>G" "r.spl?" "p.?" "" "0000411962" "00000139" "99" "610" "-2" "610" "-2" "c.610-2A>G" "r.439_452del" "p.?" "3i" "0000411963" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411963" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411964" "00024199" "00" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112*)" "" "0000411964" "00000139" "99" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112*)" "1" "0000411965" "00024199" "00" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112*)" "" "0000411965" "00000139" "99" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112*)" "1" "0000411968" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411968" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411970" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411970" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411971" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411971" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411973" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411973" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411974" "00024199" "00" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000411974" "00000139" "99" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "4" "0000411976" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411976" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411977" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411977" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411978" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411978" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411979" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411979" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411980" "00024199" "00" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112*)" "" "0000411980" "00000139" "99" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112*)" "1" "0000411981" "00024199" "00" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112*)" "" "0000411981" "00000139" "99" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112*)" "1" "0000411982" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000411982" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000411983" "00024199" "00" "1362" "0" "1362" "0" "c.1362dup" "r.(?)" "p.(Pro455Alafs*19)" "" "0000411983" "00000139" "99" "1323" "0" "1323" "0" "c.1323dup" "r.(?)" "p.(Pro442Alafs*19)" "8" "0000411984" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000411984" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000411985" "00024199" "00" "1362" "0" "1362" "0" "c.1362dup" "r.(?)" "p.(Pro455Alafs*19)" "" "0000411985" "00000139" "99" "1323" "0" "1323" "0" "c.1323dup" "r.(?)" "p.(Pro442Alafs*19)" "8" "0000411988" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411988" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411991" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000411991" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000411992" "00024199" "00" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Arg)" "" "0000411992" "00000139" "99" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Gly533Arg)" "10" "0000411993" "00024199" "00" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Arg)" "" "0000411993" "00000139" "99" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Gly533Arg)" "10" "0000411994" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411994" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411995" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411995" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411996" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411996" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411997" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411997" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411998" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411998" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000411999" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000411999" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412000" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412000" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412001" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412001" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412002" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412002" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412003" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412003" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412004" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412004" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412005" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412005" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412007" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000412007" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000412009" "00024199" "00" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000412009" "00000139" "99" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "4" "0000412010" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412010" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412011" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412011" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412012" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000412012" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000412014" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000412014" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000412015" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000412015" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000412017" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412017" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412021" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000412021" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000412038" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412038" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412039" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412039" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412040" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412040" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412041" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412041" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412043" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412043" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412045" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412045" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412052" "00024199" "00" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Arg)" "" "0000412052" "00000139" "99" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Gly533Arg)" "10" "0000412053" "00024199" "00" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Arg)" "" "0000412053" "00000139" "99" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Gly533Arg)" "10" "0000412057" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000412057" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000412058" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000412058" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000412059" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000412059" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000412060" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000412060" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000412061" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000412061" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000412062" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000412062" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000412065" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000412065" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000412066" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412066" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412068" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000412068" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000412069" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412069" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412070" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412070" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412071" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412071" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412072" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412072" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412078" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000412078" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000412079" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000412079" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000412080" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412080" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412081" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412081" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412085" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412085" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412086" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412086" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412087" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000412087" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000412088" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000412088" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000412090" "00024199" "00" "1054" "-2" "1054" "-2" "c.1054-2A>C" "r.spl?" "p.?" "" "0000412090" "00000139" "99" "1015" "-2" "1015" "-2" "c.1015-2A>C" "r.spl" "p.?" "6i" "0000412092" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412092" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412094" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412094" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412095" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412095" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412096" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412096" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412097" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412097" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412101" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412101" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412102" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412102" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412103" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412103" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412104" "00024199" "00" "1054" "-2" "1054" "-2" "c.1054-2A>C" "r.spl?" "p.?" "" "0000412104" "00000139" "99" "1015" "-2" "1015" "-2" "c.1015-2A>C" "r.spl" "p.?" "6i" "0000412105" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412105" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412106" "00024199" "00" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Gly281Glu)" "" "0000412106" "00000139" "99" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" "5" "0000412107" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412107" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412108" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412108" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412109" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412109" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412110" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412110" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412113" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412113" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412114" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412114" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412115" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412115" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412116" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000412116" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000412117" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412117" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412118" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412118" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412119" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412119" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412120" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412120" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412121" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412121" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412123" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412123" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412125" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412125" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412126" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412126" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412127" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412127" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412132" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000412132" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000412133" "00024199" "00" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000412133" "00000139" "99" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "4" "0000412134" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412134" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412135" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412135" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412136" "00024199" "00" "1441" "1" "1441" "1" "c.1441+1G>T" "r.spl?" "p.?" "" "0000412136" "00000139" "99" "1402" "1" "1402" "1" "c.1402+1G>T" "r.spl" "p.?" "9i" "0000412142" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000412142" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000412143" "00024199" "00" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Arg)" "" "0000412143" "00000139" "99" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Gly533Arg)" "10" "0000412144" "00024199" "00" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Gly546Arg)" "" "0000412144" "00000139" "99" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Gly533Arg)" "10" "0000412145" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000412145" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000412146" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412146" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412147" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412147" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412148" "00024199" "00" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000412148" "00000139" "99" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "1" "0000412149" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412149" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412151" "00024199" "00" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "" "0000412151" "00000139" "99" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204*)" "4" "0000412154" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412154" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412164" "00024199" "00" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Gly529Glu)" "" "0000412164" "00000139" "99" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(?)" "10" "0000412165" "00024199" "00" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.(Gly36Arg)" "" "0000412165" "00000139" "11" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.(Val36Leu)" "1" "0000412166" "00024199" "00" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(His180Tyr)" "" "0000412166" "00000139" "11" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180Cys)" "?" "0000412167" "00024199" "00" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Pro182Leu)" "" "0000412167" "00000139" "11" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Ser182Phe)" "?" "0000412168" "00024199" "00" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.(Gly36Arg)" "" "0000412168" "00000139" "11" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.(Val36Leu)" "1" "0000412169" "00024199" "00" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(His180Tyr)" "" "0000412169" "00000139" "11" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180Cys)" "?" "0000412170" "00024199" "00" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Pro182Leu)" "" "0000412170" "00000139" "11" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Ser182Phe)" "?" "0000412171" "00024199" "00" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Gly529Glu)" "" "0000412171" "00000139" "99" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(?)" "10" "0000412173" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412173" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412174" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412174" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412175" "00024199" "00" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "0000412175" "00000139" "99" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "8" "0000412176" "00024199" "00" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Gly176Glu)" "" "0000412176" "00000139" "99" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Gly176Glu)" "3" "0000412177" "00024199" "00" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Glu231Lys)" "" "0000412177" "00000139" "99" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Asn231Asp)" "3" "0000412178" "00024199" "00" "638" "0" "638" "0" "c.638G>T" "r.(?)" "p.(Arg213Leu)" "" "0000412178" "00000139" "99" "638" "0" "638" "0" "c.638G>T" "r.(?)" "p.(Arg213Leu)" "4" "0000412179" "00024199" "00" "400" "0" "401" "0" "c.400_401del" "r.(?)" "p.(Asn134*)" "" "0000412179" "00000139" "99" "400" "0" "401" "0" "c.400_401del" "r.(?)" "p.(Asn134Met)" "2" "0000412180" "00024199" "00" "709" "0" "709" "0" "c.709G>T" "r.(?)" "p.(Ala237Ser)" "" "0000412180" "00000139" "99" "709" "0" "709" "0" "c.709G>T" "r.(?)" "p.(Ala237Ser)" "4" "0000412181" "00024199" "00" "940" "0" "940" "0" "c.940A>G" "r.(?)" "p.(Lys314Glu)" "" "0000412181" "00000139" "99" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Lys301Glu)" "6" "0000412182" "00024199" "00" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112*)" "" "0000412182" "00000139" "99" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112*)" "1" "0000412183" "00024199" "00" "1333" "0" "1333" "0" "c.1333A>C" "r.(?)" "p.(Met445Leu)" "" "0000412183" "00000139" "99" "1294" "0" "1294" "0" "c.1294A>C" "r.(?)" "p.(Met432Leu)" "8" "0000412184" "00024199" "00" "1383" "-2" "1383" "-2" "c.1383-2del" "r.spl?" "p.?" "" "0000412184" "00000139" "99" "1344" "-2" "1344" "-2" "c.1344-2del" "r.(?)" "p.?" "9" "0000412185" "00024199" "00" "1313" "0" "1313" "0" "c.1313T>C" "r.(?)" "p.(Leu438Pro)" "" "0000412185" "00000139" "99" "1274" "0" "1274" "0" "c.1274T>C" "r.(?)" "p.(Leu425Pro)" "8" "0000412186" "00024199" "00" "496" "0" "496" "0" "c.496T>C" "r.(?)" "p.(Trp166Arg)" "" "0000412186" "00000139" "99" "496" "0" "496" "0" "c.496T>C" "r.(?)" "p.(Trp166Arg)" "3" "0000412187" "00024199" "00" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Met)" "" "0000412187" "00000139" "99" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Met)" "3" "0000412188" "00024199" "00" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000412188" "00000139" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "8" "0000412189" "00024199" "00" "1537" "0" "1537" "0" "c.1537G>C" "r.(?)" "p.(Val513Leu)" "" "0000412189" "00000139" "99" "1498" "0" "1498" "0" "c.1498G>C" "r.(?)" "p.(Val500Leu)" "10" "0000412190" "00024199" "00" "290" "0" "310" "0" "c.290_310dup" "r.(?)" "p.(Glu97_Arg103dup)" "" "0000412190" "00000139" "99" "290" "0" "310" "0" "c.290_310dup" "r.(?)" "p.(Glu97_Arg103dup)" "1" "0000412191" "00024199" "00" "675" "0" "680" "0" "c.675_680del" "r.(?)" "p.(Val226_Val227del)" "" "0000412191" "00000139" "99" "675" "0" "680" "0" "c.675_680del" "r.(?)" "p.(Val226Val227del)" "4" "0000412192" "00024199" "00" "123" "0" "127" "0" "c.123_127dup" "r.(?)" "p.(Gln43Argfs*50)" "" "0000412192" "00000139" "99" "123" "0" "127" "0" "c.123_127dup" "r.(?)" "p.(Gln43Argfs*50)" "1" "0000412193" "00024199" "00" "1607" "0" "1607" "0" "c.1607C>T" "" "" "" "0000412193" "00000139" "99" "1568" "0" "1568" "0" "c.1568C>T" "r.(?)" "p.(Ser523Phe)" "10" "0000412194" "00024199" "00" "1382" "1" "1382" "1" "c.1382+1del" "r.spl?" "p.?" "" "0000412194" "00000139" "99" "1343" "1" "1343" "1" "c.1343+1del" "r.spl" "p.?" "8i" "0000412195" "00024199" "00" "1382" "3" "1382" "3" "c.1382+3A>T" "r.spl?" "p.?" "" "0000412195" "00000139" "99" "1343" "3" "1343" "3" "c.1343+3A>T" "r.(?)" "p.?" "8i" "0000412196" "00024199" "00" "1495" "0" "1496" "0" "c.1495_1496insGTCTCTGCCACTGGGCAGAGCAGCCCAGATCTGG" "r.(?)" "p.(Glu499Glyfs*48)" "" "0000412196" "00000139" "99" "1456" "0" "1457" "0" "c.1456_1457insGTCTCTGCCACTGGGCAGAGCAGCCCAGATCTGG" "r.(?)" "p.(Glu486fs)" "10" "0000412197" "00024199" "00" "608" "0" "608" "0" "c.608C>T" "r.(?)" "p.(Pro203Leu)" "" "0000412197" "00000139" "99" "608" "0" "608" "0" "c.608C>T" "r.(?)" "p.(Pro203Leu)" "3" "0000412198" "00024199" "00" "858" "0" "858" "0" "c.858del" "r.(?)" "p.(Asp287Ilefs*27)" "" "0000412198" "00000139" "99" "819" "0" "819" "0" "c.819del" "r.(?)" "p.(Asp274Ilefs*27)" "6" "0000412199" "00000139" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000412200" "00024199" "00" "1607" "0" "1607" "0" "c.1607C>T" "" "" "" "0000412200" "00000139" "99" "1568" "0" "1568" "0" "c.1568C>T" "r.(?)" "p.(Ser523Phe)" "10" "0000528094" "00024199" "30" "-48059" "0" "-48059" "0" "c.-48059C>T" "r.(?)" "p.(=)" "" "0000528094" "00000139" "30" "-48059" "0" "-48059" "0" "c.-48059C>T" "r.(?)" "p.(=)" "" "0000528095" "00024199" "50" "-45167" "0" "-45167" "0" "c.-45167C>T" "r.(?)" "p.(=)" "" "0000528095" "00000139" "50" "-45167" "0" "-45167" "0" "c.-45167C>T" "r.(?)" "p.(=)" "" "0000528096" "00024199" "30" "-40933" "0" "-40913" "0" "c.-40933_-40913del" "r.(?)" "p.(=)" "" "0000528096" "00000139" "30" "-40933" "0" "-40913" "0" "c.-40933_-40913del" "r.(?)" "p.(=)" "" "0000528097" "00024199" "30" "-40832" "0" "-40832" "0" "c.-40832G>A" "r.(?)" "p.(=)" "" "0000528097" "00000139" "30" "-40832" "0" "-40832" "0" "c.-40832G>A" "r.(?)" "p.(=)" "" "0000528099" "00024199" "30" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.(Gly36Arg)" "" "0000528099" "00000139" "30" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.(Gly36Arg)" "" "0000528100" "00024199" "30" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Pro182Leu)" "" "0000528100" "00000139" "30" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Pro182Leu)" "" "0000528101" "00024199" "30" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Ile195Val)" "" "0000528101" "00000139" "30" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Ile195Val)" "" "0000528104" "00024199" "30" "726" "7" "726" "7" "c.726+7C>T" "r.(=)" "p.(=)" "" "0000528104" "00000139" "30" "726" "7" "726" "7" "c.726+7C>T" "r.(=)" "p.(=)" "" "0000528106" "00024199" "30" "1119" "0" "1119" "0" "c.1119C>T" "r.(?)" "p.(Phe373=)" "" "0000528106" "00000139" "30" "1080" "0" "1080" "0" "c.1080C>T" "r.(?)" "p.(Phe360=)" "" "0000528108" "00024199" "30" "1518" "0" "1518" "0" "c.1518C>T" "r.(?)" "p.(Asn506=)" "" "0000528108" "00000139" "30" "1479" "0" "1479" "0" "c.1479C>T" "r.(?)" "p.(Asn493=)" "" "0000610233" "00024199" "30" "910" "-6" "910" "-6" "c.910-6T>C" "r.(=)" "p.(=)" "" "0000610233" "00000139" "30" "871" "-6" "871" "-6" "c.871-6T>C" "r.(=)" "p.(=)" "" "0000621680" "00024199" "30" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Thr202=)" "" "0000621680" "00000139" "30" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Thr202=)" "" "0000621681" "00024199" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" "0000621681" "00000139" "50" "862" "0" "862" "0" "c.862A>G" "r.(?)" "p.(Thr288Ala)" "" "0000621682" "00024199" "50" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Arg382His)" "" "0000621682" "00000139" "50" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "" "0000621683" "00024199" "30" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Val413Ile)" "" "0000621683" "00000139" "30" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Val400Ile)" "" "0000624875" "00024199" "90" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362Ter)" "" "0000651895" "00024199" "10" "709" "0" "709" "0" "c.709G>T" "r.(?)" "p.(Ala237Ser)" "" "0000651895" "00000139" "10" "709" "0" "709" "0" "c.709G>T" "r.(?)" "p.(Ala237Ser)" "" "0000651896" "00024199" "50" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Val334Met)" "" "0000651896" "00000139" "50" "961" "0" "961" "0" "c.961G>A" "" "" "" "0000651897" "00024199" "90" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000651897" "00000139" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "" "0000670906" "00000139" "90" "275" "0" "275" "0" "c.275A>G" "-" "p.Asp92Gly" "1" "0000670907" "00000139" "90" "277" "0" "277" "0" "c.277T>C" "-" "p.Cys93Arg" "1" "0000670908" "00000139" "50" "354" "0" "354" "0" "c.354G>C" "-" "p.Lys118Asn" "1" "0000670909" "00000139" "90" "371" "0" "371" "0" "c.371T>G" "-" "p.Leu124Arg" "2" "0000670910" "00000139" "70" "431" "0" "431" "0" "c.431C>A" "-" "p.Ala144Asp" "2" "0000670911" "00000139" "90" "536" "0" "536" "0" "c.536T>A" "-" "p.Ile179Asn" "3" "0000670912" "00000139" "90" "559" "0" "559" "0" "c.559C>G" "-" "p.Arg187Gly" "3" "0000670913" "00000139" "90" "581" "0" "581" "0" "c.581C>T" "-" "p.Pro194Leu" "3" "0000670914" "00000139" "90" "608" "0" "608" "0" "c.608C>G" "-" "p.Pro203Arg" "3" "0000670915" "00000139" "90" "620" "0" "620" "0" "c.620C>T" "-" "p.Pro207Leu" "4" "0000670916" "00000139" "90" "622" "0" "622" "0" "c.622A>C" "-" "p.Ser208Arg" "4" "0000670917" "00000139" "90" "637" "0" "637" "0" "c.637C>G" "-" "p.Arg213Gly" "4" "0000670918" "00000139" "90" "653" "0" "653" "0" "c.653C>A" "-" "p.Ala218Asp" "4" "0000670919" "00000139" "90" "685" "0" "685" "0" "c.685C>T" "-" "p.Pro229Ser" "4" "0000670920" "00000139" "70" "709" "0" "709" "0" "c.709G>A" "-" "p.Ala237Thr" "4" "0000670921" "00000139" "90" "754" "0" "754" "0" "c.754G>T" "-" "p.Gly252Cys" "5" "0000670922" "00000139" "90" "755" "0" "755" "0" "c.755G>T" "-" "p.Gly252Val" "5" "0000670923" "00000139" "90" "851" "0" "851" "0" "c.851G>A" "-" "p.Gly284Asp" "5" "0000670924" "00000139" "90" "1324" "0" "1324" "0" "c.1324C>T" "-" "p.Pro442Ser" "8" "0000670925" "00000139" "90" "1478" "0" "1478" "0" "c.1478A>G" "-" "p.Asn493Ser" "10" "0000670926" "00000139" "90" "1508" "0" "1508" "0" "c.1508C>G" "-" "p.Pro503Arg" "10" "0000670927" "00000139" "90" "1592" "0" "1592" "0" "c.1592G>A" "-" "p.Cys531Tyr" "10" "0000677703" "00024199" "50" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Ile195Val)" "" "0000677703" "00000139" "50" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Ile195Val)" "" "0000689689" "00024199" "50" "-57828" "0" "-57828" "0" "c.-57828C>T" "r.(?)" "p.(=)" "" "0000689689" "00000139" "50" "-57828" "0" "-57828" "0" "c.-57828C>T" "r.(?)" "p.(=)" "" "0000689690" "00024199" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" "0000689690" "00000139" "50" "862" "0" "862" "0" "c.862A>G" "r.(?)" "p.(Thr288Ala)" "" "0000720812" "00024199" "30" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" "" "0000720812" "00000139" "30" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" "" "0000720813" "00024199" "30" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Arg382His)" "" "0000720813" "00000139" "30" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "" "0000787197" "00000139" "50" "608" "0" "608" "0" "c.608C>T" "r.(?)" "p.(Pro203Leu)" "3" "0000791039" "00024199" "70" "1522" "0" "1522" "0" "c.1522G>T" "r.(?)" "p.(Gly508*)" "" "0000791039" "00000139" "70" "1483" "0" "1483" "0" "c.1483G>T" "r.(?)" "p.(Gly495*)" "" "0000802455" "00024199" "30" "130" "0" "130" "0" "c.130C>G" "r.(?)" "p.(Leu44Val)" "" "0000802455" "00000139" "30" "130" "0" "130" "0" "c.130C>G" "r.(?)" "p.(Leu44Val)" "" "0000802456" "00024199" "50" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Thr202Ile)" "" "0000802456" "00000139" "50" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Thr202Ile)" "" "0000836773" "00000139" "70" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000841151" "00000139" "90" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Gln349*)" "" "0000851144" "00024199" "50" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Leu59=)" "" "0000851144" "00000139" "50" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Leu59=)" "" "0000851145" "00024199" "50" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Ala237Thr)" "" "0000851145" "00000139" "50" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Ala237Thr)" "" "0000851146" "00024199" "50" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Asp463Asn)" "" "0000851146" "00000139" "50" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Asp450Asn)" "" "0000860258" "00024199" "50" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Ile195Thr)" "" "0000860258" "00000139" "50" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Ile195Thr)" "" "0000860259" "00024199" "90" "1212" "1" "1212" "1" "c.1212+1G>T" "r.spl?" "p.?" "" "0000860259" "00000139" "90" "1173" "1" "1173" "1" "c.1173+1G>T" "r.spl?" "p.?" "" "0000887130" "00024199" "90" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000887130" "00000139" "90" "621" "0" "621" "0" "c.621del" "r.(?)" "p.(Ser208Valfs*3)" "" "0000929163" "00024199" "90" "1362" "0" "1362" "0" "c.1362dup" "r.(?)" "p.(Pro455Alafs*19)" "" "0000929163" "00000139" "90" "1323" "0" "1323" "0" "c.1323dup" "r.(?)" "p.(Pro442Alafs*19)" "" "0000933924" "00000139" "70" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Pro234Ser)" "" "0000933925" "00000139" "90" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Trp204Ter)" "" "0000963958" "00024199" "70" "438" "1" "438" "6" "c.438+1_438+6del" "r.spl?" "p.?" "" "0000963958" "00000139" "70" "438" "1" "438" "6" "c.438+1_438+6del" "r.spl?" "p.?" "" "0000977116" "00024199" "90" "438" "1" "438" "6" "c.438+1_438+6del" "r.spl?" "p.?" "" "0000977116" "00000139" "90" "438" "1" "438" "6" "c.438+1_438+6del" "r.spl?" "p.?" "" "0000977117" "00024199" "30" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Ser160=)" "" "0000977117" "00000139" "30" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Ser160=)" "" "0000977118" "00024199" "70" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000977118" "00000139" "70" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Cys223Tyr)" "" "0000977119" "00024199" "50" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Tyr267Cys)" "" "0000977119" "00000139" "50" "761" "0" "761" "0" "c.761A>G" "r.(?)" "p.(Tyr254Cys)" "" "0000977120" "00024199" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" "0000977120" "00000139" "50" "862" "0" "862" "0" "c.862A>G" "r.(?)" "p.(Thr288Ala)" "" "0000995593" "00024199" "50" "-40890" "0" "-40890" "0" "c.-40890G>A" "r.(?)" "p.(=)" "" "0000995593" "00000139" "50" "-40890" "0" "-40890" "0" "c.-40890G>A" "r.(?)" "p.(=)" "" "0000995594" "00024199" "50" "-34718" "0" "-34718" "0" "c.-34718C>T" "r.(?)" "p.(=)" "" "0000995594" "00000139" "50" "-34718" "0" "-34718" "0" "c.-34718C>T" "r.(?)" "p.(=)" "" "0001025198" "00024199" "50" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Val334Met)" "" "0001025198" "00000139" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Val321Met)" "" "0001035641" "00024199" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Ser146Asn)" "" "0001035641" "00000139" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Ser146Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 457 "{{screeningid}}" "{{variantid}}" "0000000058" "0000001102" "0000185890" "0000411546" "0000185890" "0000411547" "0000185891" "0000411548" "0000185891" "0000411549" "0000185892" "0000411550" "0000185892" "0000411551" "0000185893" "0000411552" "0000185893" "0000411553" "0000185894" "0000411554" "0000185894" "0000411555" "0000185895" "0000411556" "0000185895" "0000411557" "0000185896" "0000411558" "0000185896" "0000411559" "0000185897" "0000411560" "0000185897" "0000411561" "0000185898" "0000411562" "0000185898" "0000411563" "0000185899" "0000411564" "0000185899" "0000411565" "0000185900" "0000411566" "0000185900" "0000411567" "0000185901" "0000411568" "0000185901" "0000411569" "0000185902" "0000411570" "0000185902" "0000411571" "0000185903" "0000411572" "0000185903" "0000411573" "0000185904" "0000411574" "0000185904" "0000411575" "0000185905" "0000411576" "0000185905" "0000411577" "0000185906" "0000411578" "0000185906" "0000411579" "0000185907" "0000411580" "0000185907" "0000411581" "0000185908" "0000411582" "0000185909" "0000411583" "0000185909" "0000411584" "0000185910" "0000411585" "0000185910" "0000411586" "0000185911" "0000411587" "0000185911" "0000411588" "0000185912" "0000411589" "0000185912" "0000411590" "0000185913" "0000411591" "0000185913" "0000411592" "0000185914" "0000411593" "0000185915" "0000411594" "0000185915" "0000411595" "0000185916" "0000411596" "0000185916" "0000411597" "0000185917" "0000411598" "0000185917" "0000411599" "0000185918" "0000411600" "0000185918" "0000411601" "0000185919" "0000411602" "0000185919" "0000411603" "0000185920" "0000411604" "0000185920" "0000411605" "0000185921" "0000411606" "0000185921" "0000411607" "0000185922" "0000411608" "0000185922" "0000411609" "0000185923" "0000411610" "0000185923" "0000411611" "0000185924" "0000411612" "0000185924" "0000411613" "0000185925" "0000411614" "0000185925" "0000411615" "0000185926" 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"0000185946" "0000411655" "0000185947" "0000411656" "0000185947" "0000411657" "0000185948" "0000411658" "0000185949" "0000411659" "0000185950" "0000411660" "0000185952" "0000411663" "0000185953" "0000411664" "0000185953" "0000411665" "0000185954" "0000411666" "0000185954" "0000411667" "0000185955" "0000411668" "0000185957" "0000411670" "0000185957" "0000411671" "0000185958" "0000411672" "0000185959" "0000411673" "0000185960" "0000411674" "0000185961" "0000411675" "0000185961" "0000411676" "0000185964" "0000411681" "0000185964" "0000411682" "0000185965" "0000411683" "0000185966" "0000411684" "0000185967" "0000411685" "0000185967" "0000411686" "0000185969" "0000411689" "0000185972" "0000411692" "0000185972" "0000411693" "0000185973" "0000411694" "0000185974" "0000411695" "0000185975" "0000411696" "0000185975" "0000411697" "0000185976" "0000411698" "0000185976" "0000411699" "0000185977" "0000411700" "0000185978" "0000411701" "0000185979" "0000411702" "0000185980" "0000411703" "0000185981" "0000411704" "0000185981" "0000411705" "0000185982" "0000411706" "0000185983" "0000411707" "0000185984" "0000411708" "0000185986" "0000411711" "0000185986" "0000411712" "0000185987" "0000411713" "0000185988" "0000411714" "0000185989" "0000411715" "0000185989" "0000411716" "0000185990" "0000411717" "0000185990" "0000411718" "0000185991" "0000411719" "0000185992" "0000411720" "0000185993" "0000411721" "0000185993" "0000411722" "0000185994" "0000411723" "0000185995" "0000411724" "0000185995" "0000411725" "0000185996" "0000411726" "0000185997" "0000411727" "0000185998" "0000411728" "0000185998" "0000411729" "0000185999" "0000411730" "0000185999" "0000411731" "0000186000" "0000411732" "0000186000" "0000411733" "0000186002" "0000411736" "0000186005" "0000411739" "0000186005" "0000411740" "0000186006" "0000411741" "0000186007" "0000411742" "0000186008" "0000411743" "0000186008" "0000411744" "0000186009" "0000411745" "0000186010" "0000411746" "0000186011" "0000411747" "0000186012" "0000411748" 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