### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GLDC) # 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}}" "GLDC" "glycine dehydrogenase (decarboxylating)" "9" "p22" "unknown" "NG_016397.1" "UD_132118674456" "" "https://www.LOVD.nl/GLDC" "Finnish Disease Database \r\nSee also AMT mutations \r\nSee also GCSH mutations " "1" "4313" "2731" "238300" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/GLDC_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-08-30 00:00:00" "00006" "2019-07-21 20:29:28" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000282" "GLDC" "glycine dehydrogenase (decarboxylating)" "001" "NM_000170.2" "" "NP_000161.2" "" "" "" "-193" "3616" "3063" "6645692" "6532464" "00008" "2012-08-30 17:10:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00035" "GCE" "encephalopathy, glycine (GCE)" "" "" "" "" "" "00008" "2012-08-30 16:13:48" "00006" "2024-11-25 10:14:19" "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" "00869" "3MC2" "3MC syndrome, type 2 (3MC2)" "AR" "265050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01320" "AAT4" "aneurysm, aortic, thoracic, familial, type 4 (AAT4)" "" "132900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01424" "VMD" "dystrophy, macular, vitelliform (VMD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-06 09:48:47" "03947" "AAT8" "aneurysm, aortic, thoracic, familial, type 8 (AAT8)" "AD" "615436" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-08-30 17:02:14" "05129" "AGS" "Aicardi-Goutieres syndrome (AGS)" "" "" "" "" "" "00006" "2016-02-03 07:50:41" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07139" "GCE1;TNH" "glycine encephalopathy, type 1" "AR" "605899" "" "" "" "00006" "2024-11-25 10:15:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GLDC" "00035" "GLDC" "00139" "GLDC" "07139" ## Individuals ## Do not remove or alter this header ## ## Count = 485 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00001873" "" "" "" "1" "" "00025" "" "" "F" "" "United States" "" "" "" "" "white" "" "00050559" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00073767" "" "" "" "1" "" "01206" "" "" "F" "" "India" "" "0" "" "" "" "" "00073768" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073769" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073770" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073771" "" "" "" "1" "" "01206" "" "" "M" "" "India" "" "0" "" "" "" "" "00073772" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073773" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073774" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073775" "" "" "" "1" "" "01206" "" "" "F" "" "India" "" "0" "" "" "" "" "00073776" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073777" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073778" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073779" "" "" "" "1" "" "01206" "" "" "M" "" "India" "" "0" "" "" "" "" "00073780" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073781" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073782" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073783" "" "" "" "1" "" "01206" "" "" "M" "" "India" "" "0" "" "" "" "" "00073784" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073785" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073786" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073787" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073788" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073789" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073790" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073791" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073792" "" "" "" "1" "" "01206" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00073796" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073797" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073798" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073799" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073800" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073801" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073802" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073803" "" "" "" "1" "" "01206" "" "" "F" "" "" "" "0" "" "" "" "" "00073804" "" "" "" "1" "" "01206" "" "" "M" "" "India" "" "0" "" "" "" "" "00073805" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073806" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073807" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073808" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073809" "" "" "" "1" "" "01206" "" "" "F" "" "" "" "0" "" "" "" "" "00073810" "" "" "" "1" "" "01206" "" "" "M" "" "" "" "0" "" "" "" "" "00073811" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073812" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073813" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073814" "" "" "" "1" "" "01206" "" "" "M" "" "Sweden;Denmark" "" "0" "" "" "" "" "00073815" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073816" "" "" "" "1" "" "01206" "" "" "F" "" "India" "" "0" "" "" "" "" "00073817" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073818" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073819" "" "" "" "1" "" "01206" "" "" "F" "" "" "" "0" "" "" "Europe, eastern" "" "00073820" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073822" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073824" "" "" "" "1" "" "01206" "" "" "M" "" "India" "" "0" "" "" "" "" "00073825" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073826" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073827" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073828" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073829" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073830" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073831" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073832" "" "" "" "1" "" "01206" "" "" "F" "" "Nigeria;Hungary" "" "0" "" "" "" "" "00073833" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073834" "" "" "" "1" "" "01206" "" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00073835" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073836" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073837" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073840" "" "" "" "1" "" "01206" "" "" "M" "" "India" "" "0" "" "" "" "" "00073841" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073842" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073843" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073844" "" "" "" "1" "" "01206" "" "" "F" "" "New Zealand" "" "0" "" "" "" "" "00073845" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073846" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073847" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073848" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073849" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073850" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073851" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073854" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00073855" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073856" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073857" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073858" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073860" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073861" "" "" "" "1" "" "01206" "" "" "" "" "Canada" "" "0" "" "" "" "" "00073862" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073863" "" "" "" "1" "" "01206" "" "" "F" "" "New Zealand" "" "0" "" "" "" "" "00073864" "" "" "" "1" "" "01206" "" "" "M" "" "New Zealand" "" "0" "" "" "" "" "00073866" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073868" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073870" "" "" "" "1" "" "01206" "" "" "F" "" "New Zealand" "" "0" "" "" "" "" "00073872" "" "" "" "1" "" "01206" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00073873" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073874" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073875" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073876" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073877" "" "" "" "1" "" "01206" "" "" "M" "" "Canada" "" "0" "" "" "" "" "00073878" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073879" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073880" "" "" "" "1" "" "01206" "" "" "" "" "United States" "" "0" "" "" "" "" "00073881" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073883" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073884" "" "" "" "1" "" "01206" "" "" "M" "" "Australia" "" "0" "" "" "" "" "00073885" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073886" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073887" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073888" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073889" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073890" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073891" "" "" "" "1" "" "01206" "" "" "F" "" "Belgium" "" "0" "" "" "" "" "00073892" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073893" "" "" "" "1" "" "01206" "" "" "F" "" "Denmark" "" "0" "" "" "" "" "00073896" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073897" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073900" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073901" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073902" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073903" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073904" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073905" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073906" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073907" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00073908" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073909" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073910" "" "" "" "1" "" "01206" "" "" "F" "" "Belgium" "" "0" "" "" "" "" "00073911" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073912" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073913" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073914" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073915" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073916" "" "" "" "1" "" "01206" "" "" "" "" "United States" "" "0" "" "" "" "" "00073917" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073918" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073919" "" "" "" "1" "" "01206" "" "" "M" "" "New Zealand" "" "0" "" "" "" "" "00073920" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073921" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073922" "" "" "" "1" "" "01206" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00073923" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073924" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073925" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073926" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073927" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073928" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073929" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073930" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073933" "" "" "" "1" "" "01206" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00073939" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073940" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073941" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073942" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073943" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073945" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073946" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073947" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073948" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073949" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073950" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073951" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073952" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073953" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073954" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073955" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073956" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073957" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073958" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073959" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073960" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073961" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073962" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073963" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073964" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073965" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073966" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" 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"1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073988" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073990" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073992" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073993" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073994" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00073996" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00073997" "" "" "" "1" "" "01206" "" "" "M" "" "Belgium" "" "0" "" "" "" "" "00073999" "" "" "" "1" "" "01206" "" "" "F" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "" "00074000" "" "" "" "1" "" "01206" "" "" "F" "" "" "" "0" "" "" "Arab" "" "00074002" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074003" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074004" "" "" "" "1" "" "01206" "" "" "M" "" "" "" "0" "" "" "Arab" "" "00074005" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074006" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074007" "" "" "" "1" "" "01206" "" "" "M" "" "" "" "0" "" "" "Arab" "" "00074009" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074010" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074011" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074012" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074013" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074014" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074016" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074017" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074018" "" "" "" "1" "" "01206" "" "" "F" "" 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"00074031" "" "" "" "1" "" "01206" "" "" "M" "" "Denmark" "" "0" "" "" "" "" "00074032" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074033" "" "" "" "1" "" "01206" "" "" "M" "" "Belgium" "" "0" "" "" "" "" "00074034" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074035" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074036" "" "" "" "1" "" "01206" "" "" "M" "" "India" "" "0" "" "" "" "" "00074037" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074038" "" "" "" "1" "" "01206" "" "" "M" "" "Denmark" "" "0" "" "" "" "" "00074039" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074040" "" "" "" "1" "" "01206" "" "" "F" "" "Belgium" "" "0" "" "" "" "" "00074041" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074042" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074043" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074044" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074045" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074046" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074047" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074049" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074050" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074052" "" "" "" "1" "" "01206" "" "" "F" "" "" "" "0" "" "" "Arab" "" "00074053" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074054" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074056" "" "" "" "1" "" "01206" "" "" "M" "" "United States" "" "0" "" "" "" "" "00074057" "" "" "" "1" "" "01206" "" "" "F" "" "United States" "" "0" "" "" "" "" "00074058" "" "" "" "1" "" "01206" "" "" "F" "" 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"" "" "" "" "00074098" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074099" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074100" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074101" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074102" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074103" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074104" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074105" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074106" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074107" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074108" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074109" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074110" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074111" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074112" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074113" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074114" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074115" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074116" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074117" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074118" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074119" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074120" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074121" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074122" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074123" "" "" "" "1" "" "01206" "" "" "F" "" "Finland" "" "0" "" "" "" "" "00074124" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074125" "" "" "" "1" "" "01206" "" "" "M" "" "Finland" "" "0" "" "" "" "" "00074129" "" "" "" "1" "" "01206" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00074132" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074133" "" "" "" "1" "" "01206" "" "" "" "" "United States" "" "0" "" "" "" "" "00074134" "" "" "" "1" "" "01206" "" "" "M" "" "Canada" "" "0" "" "" "" "" "00074135" "" "" "" "1" "" "01206" "" "" "F" "" "New Zealand" "" "0" "" "" "" "" "00074136" "" "" "" "1" "" "01206" "" "" "F" "" "" "" "0" "" "" "Magrheb" "" "00074137" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074138" "" "" "" "1" "" "01206" "" "" "M" "" "Turkey" "" "0" "" "" "" "" "00074197" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074198" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074199" "" "" "" "1" "" "01206" "" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00074200" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074201" "" "" "" "1" "" "01206" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00074202" "" "" "" "1" "" "01206" "" "" "M" "" "" "" "0" "" "" "Magrheb" "" "00074203" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074204" "" "" "" "1" "" "01206" "" "" "M" "" "Turkey" "" "0" "" "" "" "" "00074205" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00074206" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074207" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074208" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074209" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074210" "" "" "" "1" "" "01206" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00074211" "" "" "" "1" "" "01206" "" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00074212" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00074213" "" "" "" "1" "" "01206" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00074214" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074215" "" "" "" "1" "" "01206" "" "" "F" "" "Turkey" "" "0" "" "" "" "" "00074216" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00074217" "" "" "" "1" "" "01206" "" "" "F" "" "Turkey" "" "0" "" "" "" "" "00074218" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074219" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00074220" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074221" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074222" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00074223" "" "" "" "1" "" "01206" "" "" "F" "" "" "" "0" "" "" "Magrheb" "" "00074224" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074225" "" "" "" "1" "" "01206" "" "" "F" "" "India" "" "0" "" "" "" "" "00074226" "" "" "" "1" "" "01206" "" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00074227" "" "" "" "1" "" "01206" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00074228" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074229" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074230" "" "" "" "1" "" "01206" "" "" "F" "" "Ireland" "" "0" "" "" "" "" "00074231" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074232" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074233" "" "" "" "1" "" "01206" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00074234" "" "" "" "1" "" "01206" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00074235" "" "" "" "1" "" "01206" "" "" "M" "" "Turkey" "" "0" "" "" "" "" "00074236" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074237" "" "" "" "1" "" "01206" "" "" "M" "" "Turkey" "" "0" "" "" "" "" "00074238" "" "" "" "1" "" "01206" "" "" "M" "" "Czech Republic" "" "0" "" "" "" "" "00074239" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074240" "" "" "" "1" "" "01206" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00074241" "" "" "" "1" "" "01206" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00074242" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074243" "" "" "" "1" "" "01206" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00074244" "" "" "" "1" "" "01206" "" "" "F" "" "France;Portugal" "" "0" "" "" "" "" "00074245" "" "" "" "1" "" "01206" "" "" "F" "" "Turkey" "" "0" "" "" "" "" "00074246" "" "" "" "1" "" "01206" "" "" "M" "" "Ireland" "" "0" "" "" "" "" "00074247" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074248" "" "" "" "1" "" "01206" "" "" "F" "" "Turkey" "" "0" "" "" "" "" "00074249" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00074250" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00074251" "" "" "" "1" "" "01206" "" "" "M" "" "Turkey" "" "0" "" "" "" "" "00074252" "" "" "" "1" "" "01206" "" "" "F" "" "" "" "0" "" "" "Magrheb" "" "00074253" "" "" "" "1" "" "01206" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00074254" "" "" "" "1" "" "01206" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00074255" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074256" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074257" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074258" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074259" "" "" "" "1" "" "01206" "" "" "M" "" "" "" "0" "" "" "" "" "00074260" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074261" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074262" "" "" "" "1" "" "01206" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00074263" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074264" "" "" "" "1" "" "01206" "" "" "M" "" "Turkey" "" "0" "" "" "" "" "00074265" "" "" "" "1" "" "01206" "" "" "M" "" "Belgium" "" "0" "" "" "" "" "00074266" "" "" "" "1" "" "01206" "" "" "M" "" "" "" "0" "" "" "Magrheb" "" "00074267" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00074268" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074269" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00074270" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074271" "" "" "" "1" "" "01206" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00074272" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074273" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074274" "" "" "" "1" "" "01206" "" "" "M" "" "India" "" "0" "" "" "" "" "00074275" "" "" "" "1" "" "01206" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00074276" "" "" "" "1" "" "01206" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00074277" "" "" "" "1" "" "01206" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00074278" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074279" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074280" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074281" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00074282" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074283" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074284" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074285" "" "" "" "1" "" "01206" "" "" "M" "" "Ireland" "" "0" "" "" "" "" "00074286" "" "" "" "1" "" "01206" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00074287" "" "" "" "1" "" "01206" "" "" "F" "" "" "" "0" "" "" "Magrheb" "" "00074288" "" "" "" "1" "" "01206" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00074289" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074290" "" "" "" "1" "" "01206" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00074291" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074292" "" "" "" "1" "" "01206" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00074293" "" "" "" "1" "" "01206" "" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00074294" "" "" "" "1" "" "01206" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00074295" "" "" "" "1" "" "01206" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00074296" "" "" "" "1" "" "01206" "" "" "M" "" "Denmark" "" "0" "" "" "" "" "00074297" "" "" "" "1" "" "01206" "" "" "M" "" "Egypt" "" "0" "" "" "" "" "00074298" "" "" "" "1" "" "01206" "" "" "F" "" "Norway" "" "0" "" "" "" "" "00074299" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074300" "" "" "" "1" "" "01206" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00074301" "" "" "" "1" "" "01206" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00074302" "" "" "" "1" "" "01206" "" "" "M" "" "" "" "0" "" "" "Magrheb" "" "00074303" "" "" "" "1" "" "01206" "" "" "M" "" "" "" "0" "" "" "Magrheb" "" "00074304" "" "" "" "1" "" "01206" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00074305" "" "" "" "1" "" "01206" "" "" "M" "" "India" "" "0" "" "" "" "" "00074306" "" "" "" "1" "" "01206" "" "" "M" "" "Egypt" "" "0" "" "" "" "" "00074307" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074308" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074309" "" "" "" "1" "" "01206" "" "" "F" "" "Turkey" "" "0" "" "" "" "" "00074310" "" "" "" "1" "" "01206" "" "" "F" "" "France" "" "0" "" "" "" "" "00074311" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00074312" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00074313" "" "" "" "1" "" "01206" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00074314" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00074315" "" "" "" "1" "" "01206" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00074316" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074317" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074318" "" "" "" "1" "" "01206" "" "" "F" "" "Greece" "" "0" "" "" "" "" "00074319" "" "" "" "1" "" "01206" "" "" "M" "" "France" "" "0" "" "" "" "" "00074320" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074321" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074322" "" "" "" "1" "" "01206" "" "" "M" "" "" "" "0" "" "" "Arab" "" "00074324" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00074325" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00074327" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "Magrheb" "" "00074329" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00074330" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074331" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00074332" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074334" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074335" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "Magrheb" "" "00074336" "" "" "" "1" "" "01206" "" "" "M" "" "Greece" "" "0" "" "" "" "" "00074337" "" "" "" "1" "" "01206" "" "" "M" "" "Spain" "" "0" "" "" "" "" "00074338" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074339" "" "" "" "1" "" "01206" "" "" "F" "" "Colombia" "" "0" "" "" "Spanish" "" "00074340" "" "" "" "1" "" "01206" "" "" "M" "" "Peru" "" "0" "" "" "Spanish" "" "00074341" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074342" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074343" "" "" "" "1" "" "01206" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00074344" "" "" "" "1" "" "01206" "" "" "M" "" "Denmark" "" "0" "" "" "Arab" "" "00074391" "" "" "" "1" "" "01206" "" "" "" "" "" "" "0" "" "" "" "" "00074392" "" "" "" "1" "" "01206" "" "" "" "" "" "" "0" "" "" "" "" "00079986" "" "" "" "1" "" "00006" "{PMID:Olson 2015:25914188}" "" "F" "no" "Afghanistan" "" "0" "" "" "" "" "00095421" "" "" "" "1" "" "01872" "CEDEM" "" "" "" "" "" "0" "" "" "" "" "00095423" "" "" "" "1" "" "01872" "CEDEM" "" "" "" "" "" "0" "" "" "" "" "00150150" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB4881" "00285936" "" "" "" "3" "" "00006" "{PMID:Lin 2018:29304759}, {DOI:Lin 2018:10.1186/s12881-017-0517-1}" "2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents" "F;M" "" "China" "" "0" "" "" "Han" "FamPatII2/3/4" "00294872" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294873" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294874" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294875" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305912" "" "" "" "1" "" "00006" "{PMID:Marcogliese 2018:30057031}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat4" "00306215" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "116" "00319999" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "171446" "00374331" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5514" "00419999" "" "" "" "1" "" "00006" "{PMID:Lessel 2014:24989684}" "" "M" "yes" "Turkey" "" "0" "" "" "" "patient" "00424557" "" "" "" "1" "" "04120" "" "" "M" "yes" "" "" "0" "" "" "" "" "00428069" "" "" "" "1" "" "00006" "{PMID:Paul 2023:36528028}, {DOI:Paul 2023:10.1016/j.ajhg.2022.11.011}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Israel" "" "0" "" "" "Arab" "Pat8" "00453011" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04738" "" "" "F" "no" "China" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 486 "{{individualid}}" "{{diseaseid}}" "00001873" "00000" "00050559" "00198" "00073767" "00035" "00073768" "00035" "00073769" "00035" "00073770" "00035" "00073771" "00035" "00073772" "00035" "00073773" "00035" "00073774" "00035" "00073775" "00035" "00073776" "00035" 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"05611" "00453011" "00035" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00035, 00139, 00198, 00869, 01320, 01424, 03947, 05129, 05611, 07139 ## Count = 475 "{{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}}" "0000037171" "00198" "00050559" "00006" "Unknown" "" "global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000053584" "00035" "00073767" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053585" "00035" "00073768" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053586" "00035" "00073769" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053587" "00035" "00073770" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053588" "00035" "00073771" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053589" "00035" "00073772" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053590" "00035" "00073773" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053591" "00035" "00073774" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053592" "00035" "00073775" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053593" "00035" "00073776" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053594" "00035" "00073777" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053595" "00035" "00073778" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053596" "00035" "00073779" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053597" "00035" "00073780" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053598" "00035" "00073781" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053599" "00035" "00073782" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053600" "00035" "00073783" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053601" "00035" "00073784" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053602" "00035" "00073785" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053603" "00035" "00073786" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053604" "00035" "00073787" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053605" "00035" "00073788" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053606" "00035" "00073789" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053607" "00035" "00073790" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053608" "00035" "00073791" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053609" "00035" "00073792" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053613" "00035" "00073796" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053614" "00035" "00073797" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053615" "00035" "00073798" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053616" "00035" "00073799" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053617" "00035" "00073800" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053618" "00035" "00073801" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053619" "00035" "00073802" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053620" "00035" "00073803" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053621" "00035" "00073804" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053622" "00035" "00073805" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053623" "00035" "00073806" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053624" "00035" "00073807" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053625" "00035" "00073808" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053626" "00035" "00073809" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053627" "00035" "00073810" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053628" "00035" "00073811" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053629" "00035" "00073812" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053630" "00035" "00073813" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053631" "00035" "00073814" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053632" "00035" "00073815" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053633" "00035" "00073816" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053634" "00035" "00073817" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053635" "00035" "00073818" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053636" "00035" "00073819" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053637" "00035" "00073820" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053639" "00035" "00073822" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053641" "00035" "00073824" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053642" "00035" "00073825" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053643" "00035" "00073826" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053644" "00035" "00073827" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053645" "00035" "00073828" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053646" "00035" "00073829" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053647" "00035" "00073830" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053648" "00035" "00073831" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053649" "00035" "00073832" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053650" "00035" "00073833" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053651" "00035" "00073834" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053652" "00035" "00073835" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053653" "00035" "00073836" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053654" "00035" "00073837" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053657" "00035" "00073840" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053658" "00035" "00073841" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053659" "00035" "00073842" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053660" "00035" "00073843" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053661" "00035" "00073844" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053662" "00035" "00073845" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053663" "00035" "00073846" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053664" "00035" "00073847" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053665" "00035" "00073848" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053666" "00035" "00073849" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053667" "00035" "00073850" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053668" "00035" "00073851" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053671" "00035" "00073854" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053672" "00035" "00073855" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053673" "00035" "00073856" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053674" "00035" "00073857" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053675" "00035" "00073858" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053677" "00035" "00073860" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053678" "00035" "00073861" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053679" "00035" "00073862" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053680" "00035" "00073863" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053681" "00035" "00073864" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053683" "00035" "00073866" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053685" "00035" "00073868" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053687" "00035" "00073870" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053689" "00035" "00073872" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053690" "00035" "00073873" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053691" "00035" "00073874" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053692" "00035" "00073875" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053693" "00035" "00073876" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053694" "00035" "00073877" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053695" "00035" "00073878" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053696" "00035" "00073879" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053697" "00035" "00073880" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053698" "00035" "00073881" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053700" "00035" "00073883" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053701" "00035" "00073884" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053702" "00035" "00073885" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053703" "00035" "00073886" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053704" "00035" "00073887" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053705" "00035" "00073888" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053706" "00035" "00073889" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053707" "00035" "00073890" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053708" "00035" "00073891" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053709" "00035" "00073892" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053710" "00035" "00073893" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053713" "00035" "00073896" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053714" "00035" "00073897" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053717" "00035" "00073900" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053718" "00035" "00073901" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053719" "00035" "00073902" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053720" "00035" "00073903" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053721" "00035" "00073904" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053722" "00035" "00073905" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053723" "00035" "00073906" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053724" "00035" "00073907" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053725" "00035" "00073908" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053726" "00035" "00073909" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053727" "00035" "00073910" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053728" "00035" "00073911" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053729" "00035" "00073912" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053730" "00035" "00073913" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053731" "00035" "00073914" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053732" "00035" "00073915" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053733" "00035" "00073916" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053734" "00035" "00073917" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053735" "00035" "00073918" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053736" "00035" "00073919" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053737" "00035" "00073920" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053738" "00035" "00073921" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053739" "00035" "00073922" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053740" "00035" "00073923" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053741" "00035" "00073924" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053742" "00035" "00073925" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053743" "00035" "00073926" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053744" "00035" "00073927" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053745" "00035" "00073928" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053746" "00035" "00073929" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053747" "00035" "00073930" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053750" "00035" "00073933" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053756" "00035" "00073939" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053757" "00035" "00073940" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053758" "00035" "00073941" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053759" "00035" "00073942" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053760" "00035" "00073943" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053762" "00035" "00073945" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053763" "00035" "00073946" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053764" "00035" "00073947" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053765" "00035" "00073948" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053766" "00035" "00073949" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053767" "00035" "00073950" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053768" "00035" "00073951" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053769" "00035" "00073952" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053770" "00035" "00073953" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053771" "00035" "00073954" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053772" "00035" "00073955" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053773" "00035" "00073956" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053774" "00035" "00073957" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053775" "00035" "00073958" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053776" "00035" "00073959" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053777" "00035" "00073960" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053778" "00035" "00073961" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053779" "00035" "00073962" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053780" "00035" "00073963" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053781" "00035" "00073964" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053782" "00035" "00073965" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053783" "00035" "00073966" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053785" "00035" "00073968" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053788" "00035" "00073971" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053790" "00035" "00073973" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053791" "00035" "00073974" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053793" "00035" "00073976" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053794" "00035" "00073977" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053795" "00035" "00073978" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053796" "00035" "00073979" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053797" "00035" "00073980" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053798" "00035" "00073981" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053799" "00035" "00073982" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053800" "00035" "00073983" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053803" "00035" "00073986" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053805" "00035" "00073988" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053807" "00035" "00073990" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053809" "00035" "00073992" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053810" "00035" "00073993" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053811" "00035" "00073994" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053813" "00035" "00073996" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053814" "00035" "00073997" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053816" "00035" "00073999" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053817" "00035" "00074000" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053819" "00035" "00074002" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053820" "00035" "00074003" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053821" "00035" "00074004" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053822" "00035" "00074005" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053823" "00035" "00074006" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053824" "00035" "00074007" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053826" "00035" "00074009" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053827" "00035" "00074010" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053828" "00035" "00074011" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053829" "00035" "00074012" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053830" "00035" "00074013" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053831" "00035" "00074014" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053833" "00035" "00074016" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053834" "00035" "00074017" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053835" "00035" "00074018" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053836" "00035" "00074019" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053837" "00035" "00074020" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053838" "00035" "00074021" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053839" "00035" "00074022" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053840" "00035" "00074023" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053841" "00035" "00074024" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053842" "00035" "00074025" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053843" "00035" "00074026" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053844" "00035" "00074027" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053845" "00035" "00074028" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053846" "00035" "00074029" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053847" "00035" "00074030" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053848" "00035" "00074031" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053849" "00035" "00074032" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053850" "00035" "00074033" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053851" "00035" "00074034" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053852" "00035" "00074035" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053853" "00035" "00074036" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053854" "00035" "00074037" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053855" "00035" "00074038" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053856" "00035" "00074039" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053857" "00035" "00074040" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053858" "00035" "00074041" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053859" "00035" "00074042" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053860" "00035" "00074043" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053861" "00035" "00074044" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053862" "00035" "00074045" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053863" "00035" "00074046" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053864" "00035" "00074047" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053866" "00035" "00074049" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053867" "00035" "00074050" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053869" "00035" "00074052" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053870" "00035" "00074053" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053871" "00035" "00074054" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053873" "00035" "00074056" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053874" "00035" "00074057" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053875" "00035" "00074058" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053876" "00035" "00074059" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053877" "00035" "00074060" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053878" "00035" "00074061" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053879" "00035" "00074062" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053881" "00035" "00074064" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053882" "00035" "00074065" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053883" "00035" "00074066" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053885" "00035" "00074068" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053886" "00035" "00074069" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053887" "00035" "00074070" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053888" "00035" "00074071" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053889" "00035" "00074072" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053890" "00035" "00074073" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053891" "00035" "00074074" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053892" "00035" "00074075" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053893" "00035" "00074076" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053894" "00035" "00074077" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053895" "00035" "00074078" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053896" "00035" "00074079" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053897" "00035" "00074080" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053898" "00035" "00074081" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053899" "00035" "00074082" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053900" "00035" "00074083" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053901" "00035" "00074084" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053902" "00035" "00074085" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053903" "00035" "00074086" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053904" "00035" "00074087" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053905" "00035" "00074088" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053906" "00035" "00074089" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053907" "00035" "00074090" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053908" "00035" "00074091" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053909" "00035" "00074092" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053910" "00035" "00074093" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053911" "00035" "00074094" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053912" "00035" "00074095" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053913" "00035" "00074096" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053914" "00035" "00074097" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053915" "00035" "00074098" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053916" "00035" "00074099" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053917" "00035" "00074100" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053918" "00035" "00074101" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053919" "00035" "00074102" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053920" "00035" "00074103" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053921" "00035" "00074104" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053922" "00035" "00074105" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053923" "00035" "00074106" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053924" "00035" "00074107" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053925" "00035" "00074108" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053926" "00035" "00074109" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053927" "00035" "00074110" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053928" "00035" "00074111" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053929" "00035" "00074112" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053930" "00035" "00074113" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053931" "00035" "00074114" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053932" "00035" "00074115" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053933" "00035" "00074116" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053934" "00035" "00074117" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053935" "00035" "00074118" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053936" "00035" "00074119" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053937" "00035" "00074120" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053938" "00035" "00074121" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053939" "00035" "00074122" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053940" "00035" "00074123" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053941" "00035" "00074124" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053942" "00035" "00074125" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053946" "00035" "00074129" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053949" "00035" "00074132" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053950" "00035" "00074133" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053951" "00035" "00074134" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053952" "00035" "00074135" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053953" "00035" "00074136" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053954" "00035" "00074137" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053955" "00035" "00074138" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054014" "00035" "00074197" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054015" "00035" "00074198" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054016" "00035" "00074199" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054017" "00035" "00074200" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054018" "00035" "00074201" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054019" "00035" "00074202" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054020" "00035" "00074203" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054021" "00035" "00074204" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054022" "00035" "00074205" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054023" "00035" "00074206" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054024" "00035" "00074207" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054025" "00035" "00074208" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054026" "00035" "00074209" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054027" "00035" "00074210" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054028" "00035" "00074211" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054029" "00035" "00074212" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054030" "00035" "00074213" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054031" "00035" "00074214" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054032" "00035" "00074215" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054033" "00035" "00074216" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054034" "00035" "00074217" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054035" "00035" "00074218" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054036" "00035" "00074219" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054037" "00035" "00074220" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054038" "00035" "00074221" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054039" "00035" "00074222" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054040" "00035" "00074223" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054041" "00035" "00074224" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054042" "00035" "00074225" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054043" "00035" "00074226" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054044" "00035" "00074227" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054045" "00035" "00074228" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054046" "00035" "00074229" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054047" "00035" "00074230" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054048" "00035" "00074231" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054049" "00035" "00074232" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054050" "00035" "00074233" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054051" "00035" "00074234" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054052" "00035" "00074235" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054053" "00035" "00074236" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054054" "00035" "00074237" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054055" "00035" "00074238" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054056" "00035" "00074239" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054057" "00035" "00074240" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054058" "00035" "00074241" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054059" "00035" "00074242" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054060" "00035" "00074243" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054061" "00035" "00074244" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054062" "00035" "00074245" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054063" "00035" "00074246" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054064" "00035" "00074247" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054065" "00035" "00074248" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054066" "00035" "00074249" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054067" "00035" "00074250" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054068" "00035" "00074251" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054069" "00035" "00074252" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054070" "00035" "00074253" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054071" "00035" "00074254" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054072" "00035" "00074255" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054073" "00035" "00074256" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054074" "00035" "00074257" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054075" "00035" "00074258" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054076" "00035" "00074259" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054077" "00035" "00074260" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054078" "00035" "00074261" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054079" "00035" "00074262" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054080" "00035" "00074263" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054081" "00035" "00074264" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054082" "00035" "00074265" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054083" "00035" "00074266" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054084" "00035" "00074267" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054085" "00035" "00074268" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054086" "00035" "00074269" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054087" "00035" "00074270" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054088" "00035" "00074271" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054089" "00035" "00074272" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054090" "00035" "00074273" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054091" "00035" "00074274" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054092" "00035" "00074275" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054093" "00035" "00074276" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054094" "00035" "00074277" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054095" "00035" "00074278" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054096" "00035" "00074279" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054097" "00035" "00074280" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054098" "00035" "00074281" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054099" "00035" "00074282" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054100" "00035" "00074283" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054101" "00035" "00074284" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054102" "00035" "00074285" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054103" "00035" "00074286" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054104" "00035" "00074287" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054105" "00035" "00074288" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054106" "00035" "00074289" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054107" "00035" "00074290" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054108" "00035" "00074291" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054109" "00035" "00074292" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054110" "00035" "00074293" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054111" "00035" "00074294" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054112" "00035" "00074295" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054113" "00035" "00074296" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054114" "00035" "00074297" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054115" "00035" "00074298" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054116" "00035" "00074299" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054117" "00035" "00074300" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054118" "00035" "00074301" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054119" "00035" "00074302" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054120" "00035" "00074303" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054121" "00035" "00074304" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054122" "00035" "00074305" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054123" "00035" "00074306" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054124" "00035" "00074307" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054125" "00035" "00074308" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054126" "00035" "00074309" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054127" "00035" "00074310" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054128" "00035" "00074311" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054129" "00035" "00074312" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054130" "00035" "00074313" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054131" "00035" "00074314" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054132" "00035" "00074315" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054133" "00035" "00074316" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054134" "00035" "00074317" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054135" "00035" "00074318" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054136" "00035" "00074319" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054137" "00035" "00074320" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054138" "00035" "00074321" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054139" "00035" "00074322" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054141" "00035" "00074324" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054142" "00035" "00074325" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054144" "00035" "00074327" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054146" "00035" "00074329" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054147" "00035" "00074330" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054148" "00035" "00074331" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054149" "00035" "00074332" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054151" "00035" "00074334" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054152" "00035" "00074335" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054153" "00035" "00074336" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054154" "00035" "00074337" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054155" "00035" "00074338" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054156" "00035" "00074339" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054157" "00035" "00074340" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054158" "00035" "00074341" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054159" "00035" "00074342" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054160" "00035" "00074343" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054161" "00035" "00074344" "01206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000122552" "00198" "00150150" "00006" "Familial, autosomal recessive" "" "intellectual diability, CCA, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000219801" "00035" "00285936" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe and progressive lethargy, hypotonia, seizures; greatly elevated glycine levels plasma and CSF" "" "" "" "" "" "" "" "" "GCE" "non-ketotic hyperglycinemia (NKH)" "" "0000231759" "05611" "00305912" "00006" "Unknown" "16y" "no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal" "" "" "" "" "" "" "" "" "NDD;VMD2" "" "" "0000232064" "00035" "00306215" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242044" "00035" "00319999" "01164" "Unknown" "" "Lethargy, Hyperglycinemia, EEG abnormality, Hypotension, Nonketotic hyperglycinemia" "" "" "" "" "" "" "" "" "" "2 month" "" "0000269541" "00198" "00374331" "00006" "Familial, autosomal recessive" "" "Global developmental delay, autistic traits and multiple episodes of seizures" "" "" "" "" "" "" "" "" "" "epilepsy, autism spectrum disorder" "" "0000311245" "05129" "00419999" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., aged appearance, prematurely gray hair, scleroderma-like skin, spastic paraplegia, apparent disability" "" "" "" "" "" "" "" "" "AGS5" "Aicardi-Goutieres syndrome" "" "0000315753" "00035" "00424557" "04120" "Isolated (sporadic)" "08y" "Dysmorphic features" ">02y" "08y" "Hypotonia, lethargy, seizure" "" "" "" "" "" "Glycine encephalopathy" "Encephalopathy" "" "0000319015" "05611" "00428069" "00006" "Isolated (sporadic)" "3y9m" "brith at term, weight 3kg (50th%ile), , OFC 34 cm (50th%ile); absent speech; delayed gross motor development; severe delayed fine motor milestones; severe intellectual disability; seizures; autism; mild hypotonia; MRI brain subtle interdigitation of inferomedial frontal gyri; no behavior abnormalities; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; long palpebral fissures, small hands and feet; no congenital anomalies; ataxia" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000341655" "00035" "00453011" "04738" "Familial, autosomal recessive" "2 d" "MRI:Widening of the extracerebral space and increased signal intensity in the bilateral globus pallidus ;EEG:activity, mainly medium and high amplitude slow waves;Alive at 4 years, seizures-free, walked alone,\r\nchoreiform movement\r\ndisorders" "00y00m02d" "00y06m" "lethargy, hypotonia, apnea, seizures" "" "" "" "" "" "phenotype individual after molecular testing" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 485 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002132" "00001873" "0" "00025" "00006" "2010-04-21 15:42:00" "" "" "SEQ" "DNA" "" "" "0000050504" "00050559" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000073928" "00073767" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000073929" "00073768" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000073930" "00073769" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000073931" "00073770" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000073932" "00073771" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000073933" "00073772" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000073934" 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"2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074186" "00074025" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074187" "00074026" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074188" "00074027" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074189" "00074028" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074190" "00074029" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074191" "00074030" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074192" "00074031" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074193" "00074032" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074194" "00074033" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074195" "00074034" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074196" "00074035" "1" "01206" "00006" 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"2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074222" "00074061" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074223" "00074062" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074225" "00074064" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074226" "00074065" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074227" "00074066" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074229" "00074068" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074230" "00074069" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074231" "00074070" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074232" "00074071" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074233" "00074072" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074234" "00074073" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074235" "00074074" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074236" "00074075" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074237" "00074076" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074238" "00074077" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074239" "00074078" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074240" "00074079" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074241" "00074080" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074242" "00074081" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074243" "00074082" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074244" "00074083" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074245" "00074084" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074246" "00074085" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074247" "00074086" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074248" "00074087" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074249" "00074088" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074250" "00074089" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074251" "00074090" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074252" "00074091" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074253" "00074092" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074254" "00074093" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074255" "00074094" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074256" "00074095" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074257" "00074096" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074258" "00074097" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074259" "00074098" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074260" "00074099" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074261" "00074100" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074262" "00074101" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074263" "00074102" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074264" "00074103" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074265" "00074104" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074266" "00074105" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074267" "00074106" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074268" "00074107" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074269" "00074108" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074270" "00074109" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074271" "00074110" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074272" "00074111" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074273" "00074112" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074274" "00074113" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074275" "00074114" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074276" "00074115" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074277" "00074116" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074278" "00074117" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074279" "00074118" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074280" "00074119" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074281" "00074120" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074282" "00074121" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074283" "00074122" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074284" "00074123" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074285" "00074124" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074286" "00074125" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074290" "00074129" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074293" "00074132" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074294" "00074133" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074295" "00074134" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074296" "00074135" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074297" "00074136" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074298" "00074137" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074299" "00074138" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074358" "00074197" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074359" "00074198" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074360" "00074199" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074361" "00074200" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074362" "00074201" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074363" "00074202" "1" "01206" "00006" 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"2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074386" "00074225" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074387" "00074226" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074388" "00074227" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074389" "00074228" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074390" "00074229" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074391" "00074230" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074392" "00074231" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074393" "00074232" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074394" "00074233" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074395" "00074234" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074396" "00074235" "1" "01206" "00006" 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"2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074500" "00074339" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074501" "00074340" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074502" "00074341" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074503" "00074342" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074504" "00074343" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074505" "00074344" "1" "01206" "00006" "2016-06-22 01:44:39" "" "" "SEQ" "DNA" "" "" "0000074552" "00074391" "1" "01206" "00006" "2016-06-26 17:01:25" "" "" "SEQ" "DNA" "" "" "0000074553" "00074392" "1" "01206" "00006" "2016-06-26 17:07:05" "" "" "SEQ" "DNA" "" "" "0000080065" "00079986" "1" "00008" "00008" "2016-08-30 15:21:46" "" "" "MLPA;SEQ" "DNA" "blood" "" "0000095820" "00095421" "1" "01872" "01872" "2017-01-17 11:58:27" "" "" "SEQ" "DNA" "" "" "0000095823" "00095423" "1" "01872" "01872" 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"00319999" "1" "01164" "01164" "2020-11-16 15:31:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000375525" "00374331" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000421305" "00419999" "1" "00006" "00006" "2022-10-30 10:11:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000425868" "00424557" "1" "04120" "04120" "2022-11-20 22:37:15" "" "" "SEQ-NG" "RNA" "Blood sample" "" "0000429481" "00428069" "1" "00006" "00006" "2022-12-21 10:47:09" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000454621" "00453011" "1" "04738" "04738" "2024-08-13 04:09:04" "" "" "ARMS" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 479 "{{screeningid}}" "{{geneid}}" "0000002132" "APOE" "0000073928" "GLDC" "0000073929" "GLDC" "0000073930" "GLDC" "0000073931" "GLDC" "0000073932" "GLDC" "0000073933" "GLDC" "0000073934" "GLDC" "0000073935" "GLDC" "0000073936" "GLDC" "0000073937" "GLDC" "0000073938" "GLDC" "0000073939" "GLDC" "0000073940" "GLDC" "0000073941" "GLDC" "0000073942" "GLDC" "0000073943" "GLDC" "0000073944" "GLDC" "0000073945" "GLDC" "0000073946" "GLDC" "0000073947" "GLDC" "0000073948" "GLDC" "0000073949" "GLDC" "0000073950" "GLDC" "0000073951" "GLDC" "0000073952" "GLDC" "0000073953" "GLDC" "0000073957" "GLDC" "0000073958" "GLDC" "0000073959" "GLDC" "0000073960" "GLDC" "0000073961" "GLDC" "0000073962" "GLDC" "0000073963" "GLDC" "0000073964" "GLDC" "0000073965" "GLDC" "0000073966" "GLDC" "0000073967" "GLDC" "0000073968" "GLDC" "0000073969" "GLDC" "0000073970" "GLDC" "0000073971" "GLDC" "0000073972" "GLDC" "0000073973" "GLDC" "0000073974" "GLDC" "0000073975" "GLDC" "0000073976" "GLDC" "0000073977" "GLDC" "0000073978" "GLDC" "0000073979" "GLDC" "0000073980" "GLDC" "0000073981" "GLDC" "0000073983" "GLDC" "0000073985" "GLDC" "0000073986" "GLDC" "0000073987" "GLDC" "0000073988" "GLDC" "0000073989" "GLDC" "0000073990" "GLDC" "0000073991" "GLDC" "0000073992" "GLDC" "0000073993" "GLDC" "0000073994" "GLDC" "0000073995" "GLDC" "0000073996" "GLDC" "0000073997" "GLDC" "0000073998" "GLDC" "0000074001" "GLDC" "0000074002" "GLDC" "0000074003" "GLDC" "0000074004" "GLDC" "0000074005" "GLDC" "0000074006" "GLDC" "0000074007" "GLDC" "0000074008" "GLDC" "0000074009" "GLDC" "0000074010" "GLDC" "0000074011" "GLDC" "0000074012" "GLDC" "0000074015" "GLDC" "0000074016" "GLDC" "0000074017" "GLDC" "0000074018" "GLDC" "0000074019" "GLDC" "0000074021" "GLDC" "0000074022" "GLDC" "0000074023" "GLDC" "0000074024" "GLDC" "0000074025" "GLDC" "0000074027" "GLDC" "0000074029" "GLDC" "0000074031" "GLDC" "0000074033" "GLDC" "0000074034" "GLDC" "0000074035" "GLDC" "0000074036" "GLDC" "0000074037" "GLDC" "0000074038" "GLDC" "0000074039" "GLDC" "0000074040" "GLDC" "0000074041" "GLDC" "0000074042" "GLDC" "0000074044" "GLDC" "0000074045" "GLDC" "0000074046" "GLDC" "0000074047" "GLDC" "0000074048" "GLDC" "0000074049" "GLDC" "0000074050" "GLDC" "0000074051" "GLDC" "0000074052" "GLDC" "0000074053" "GLDC" "0000074054" "GLDC" "0000074057" "GLDC" "0000074058" "GLDC" "0000074061" "GLDC" "0000074062" "GLDC" "0000074063" "GLDC" "0000074064" "GLDC" "0000074065" "GLDC" "0000074066" "GLDC" "0000074067" "GLDC" "0000074068" "GLDC" "0000074069" "GLDC" "0000074070" "GLDC" "0000074071" "GLDC" "0000074072" "GLDC" "0000074073" "GLDC" "0000074074" "GLDC" "0000074075" "GLDC" "0000074076" "GLDC" "0000074077" "GLDC" "0000074078" "GLDC" "0000074079" "GLDC" "0000074080" "GLDC" "0000074081" "GLDC" "0000074082" "GLDC" "0000074083" "GLDC" "0000074084" "GLDC" "0000074085" "GLDC" "0000074086" "GLDC" "0000074087" "GLDC" "0000074088" "GLDC" "0000074089" "GLDC" "0000074090" "GLDC" "0000074091" "GLDC" "0000074094" "GLDC" "0000074100" "GLDC" "0000074101" "GLDC" "0000074102" "GLDC" "0000074103" "GLDC" "0000074104" "GLDC" "0000074106" "GLDC" "0000074107" "GLDC" "0000074108" "GLDC" "0000074109" "GLDC" "0000074110" "GLDC" "0000074111" "GLDC" "0000074112" "GLDC" "0000074113" "GLDC" "0000074114" "GLDC" "0000074115" "GLDC" "0000074116" "GLDC" "0000074117" "GLDC" "0000074118" "GLDC" "0000074119" "GLDC" "0000074120" "GLDC" "0000074121" "GLDC" "0000074122" "GLDC" "0000074123" "GLDC" "0000074124" "GLDC" "0000074125" "GLDC" "0000074126" "GLDC" "0000074127" "GLDC" "0000074129" "GLDC" "0000074132" "GLDC" "0000074134" "GLDC" "0000074135" "GLDC" "0000074137" "GLDC" "0000074138" "GLDC" "0000074139" "GLDC" "0000074140" "GLDC" "0000074141" "GLDC" "0000074142" "GLDC" "0000074143" "GLDC" "0000074144" "GLDC" "0000074147" "GLDC" "0000074149" "GLDC" "0000074151" "GLDC" "0000074153" "GLDC" "0000074154" "GLDC" "0000074155" "GLDC" "0000074157" "GLDC" "0000074158" "GLDC" "0000074160" "GLDC" "0000074161" "GLDC" "0000074163" "GLDC" "0000074164" "GLDC" "0000074165" "GLDC" "0000074166" "GLDC" "0000074167" "GLDC" "0000074168" "GLDC" "0000074170" "GLDC" "0000074171" "GLDC" "0000074172" "GLDC" "0000074173" "GLDC" "0000074174" "GLDC" "0000074175" "GLDC" "0000074177" "GLDC" "0000074178" "GLDC" "0000074179" "GLDC" "0000074180" "GLDC" "0000074181" "GLDC" "0000074182" "GLDC" "0000074183" "GLDC" "0000074184" "GLDC" "0000074185" "GLDC" "0000074186" "GLDC" "0000074187" "GLDC" "0000074188" "GLDC" "0000074189" "GLDC" "0000074190" "GLDC" "0000074191" "GLDC" "0000074192" "GLDC" "0000074193" "GLDC" "0000074194" "GLDC" "0000074195" "GLDC" "0000074196" "GLDC" "0000074197" "GLDC" "0000074198" "GLDC" "0000074199" "GLDC" "0000074200" "GLDC" "0000074201" "GLDC" "0000074202" "GLDC" "0000074203" "GLDC" "0000074204" "GLDC" "0000074205" "GLDC" "0000074206" "GLDC" "0000074207" "GLDC" "0000074208" "GLDC" "0000074210" "GLDC" "0000074211" "GLDC" "0000074213" "GLDC" "0000074214" "GLDC" "0000074215" "GLDC" "0000074217" "GLDC" "0000074218" "GLDC" "0000074219" "GLDC" "0000074220" "GLDC" "0000074221" "GLDC" "0000074222" "GLDC" "0000074223" "GLDC" "0000074225" "GLDC" "0000074226" "GLDC" "0000074227" "GLDC" "0000074229" "GLDC" "0000074230" "GLDC" "0000074231" "GLDC" "0000074232" "GLDC" "0000074233" "GLDC" "0000074234" "GLDC" "0000074235" "GLDC" "0000074236" "GLDC" "0000074237" "GLDC" "0000074238" "GLDC" "0000074239" "GLDC" "0000074240" "GLDC" "0000074241" "GLDC" "0000074242" "GLDC" "0000074243" "GLDC" "0000074244" "GLDC" "0000074245" "GLDC" "0000074246" "GLDC" "0000074247" "GLDC" "0000074248" "GLDC" "0000074249" "GLDC" "0000074250" "GLDC" "0000074251" "GLDC" "0000074252" "GLDC" "0000074253" "GLDC" "0000074254" "GLDC" "0000074255" "GLDC" "0000074256" "GLDC" "0000074257" "GLDC" "0000074258" "GLDC" "0000074259" "GLDC" "0000074260" "GLDC" "0000074261" "GLDC" "0000074262" "GLDC" "0000074263" "GLDC" "0000074264" "GLDC" "0000074265" "GLDC" "0000074266" "GLDC" "0000074267" "GLDC" "0000074268" "GLDC" "0000074269" "GLDC" "0000074270" "GLDC" "0000074271" "GLDC" "0000074272" "GLDC" "0000074273" "GLDC" "0000074274" "GLDC" "0000074275" "GLDC" "0000074276" "GLDC" "0000074277" "GLDC" "0000074278" "GLDC" "0000074279" "GLDC" "0000074280" "GLDC" "0000074281" "GLDC" "0000074282" "GLDC" "0000074283" "GLDC" "0000074284" "GLDC" "0000074285" "GLDC" "0000074286" "GLDC" "0000074290" "GLDC" "0000074293" "GLDC" "0000074294" "GLDC" "0000074295" "GLDC" "0000074296" "GLDC" "0000074297" "GLDC" "0000074298" "GLDC" "0000074299" "GLDC" "0000074358" "GLDC" "0000074359" "GLDC" "0000074360" "GLDC" "0000074361" "GLDC" "0000074362" "GLDC" "0000074363" "GLDC" "0000074364" "GLDC" "0000074365" "GLDC" "0000074366" "GLDC" "0000074367" "GLDC" "0000074368" "GLDC" "0000074369" "GLDC" "0000074370" "GLDC" "0000074371" "GLDC" "0000074372" "GLDC" "0000074373" "GLDC" "0000074374" "GLDC" "0000074375" "GLDC" "0000074376" "GLDC" "0000074377" "GLDC" "0000074378" "GLDC" "0000074379" "GLDC" "0000074380" "GLDC" "0000074381" "GLDC" "0000074382" "GLDC" "0000074383" "GLDC" "0000074384" "GLDC" "0000074385" "GLDC" "0000074386" "GLDC" "0000074387" "GLDC" "0000074388" "GLDC" "0000074389" "GLDC" "0000074390" "GLDC" "0000074391" "GLDC" "0000074392" "GLDC" "0000074393" "GLDC" "0000074394" "GLDC" "0000074395" "GLDC" "0000074396" "GLDC" "0000074397" "GLDC" "0000074398" "GLDC" "0000074399" "GLDC" "0000074400" "GLDC" "0000074401" "GLDC" "0000074402" "GLDC" "0000074403" "GLDC" "0000074404" "GLDC" "0000074405" "GLDC" "0000074406" "GLDC" "0000074407" "GLDC" "0000074408" "GLDC" "0000074409" "GLDC" "0000074410" "GLDC" "0000074411" "GLDC" "0000074412" "GLDC" "0000074413" "GLDC" "0000074414" "GLDC" "0000074415" "GLDC" "0000074416" "GLDC" "0000074417" "GLDC" "0000074418" "GLDC" "0000074419" "GLDC" "0000074420" "GLDC" "0000074421" "GLDC" "0000074422" "GLDC" "0000074423" "GLDC" "0000074424" "GLDC" "0000074425" "GLDC" "0000074426" "GLDC" "0000074427" "GLDC" "0000074428" "GLDC" "0000074429" "GLDC" "0000074430" "GLDC" "0000074431" "GLDC" "0000074432" "GLDC" "0000074433" "GLDC" "0000074434" "GLDC" "0000074435" "GLDC" "0000074436" "GLDC" "0000074437" "GLDC" "0000074438" "GLDC" "0000074439" "GLDC" "0000074440" "GLDC" "0000074441" "GLDC" "0000074442" "GLDC" "0000074443" "GLDC" "0000074444" "GLDC" "0000074445" "GLDC" "0000074446" "GLDC" "0000074447" "GLDC" "0000074448" "GLDC" "0000074449" "GLDC" "0000074450" "GLDC" "0000074451" "GLDC" "0000074452" "GLDC" "0000074453" "GLDC" "0000074454" "GLDC" "0000074455" "GLDC" "0000074456" "GLDC" "0000074457" "GLDC" "0000074458" "GLDC" "0000074459" "GLDC" "0000074460" "GLDC" "0000074461" "GLDC" "0000074462" "GLDC" "0000074463" "GLDC" "0000074464" "GLDC" "0000074465" "GLDC" "0000074466" "GLDC" "0000074467" "GLDC" "0000074468" "GLDC" "0000074469" "GLDC" "0000074470" "GLDC" "0000074471" "GLDC" "0000074472" "GLDC" "0000074473" "GLDC" "0000074474" "GLDC" "0000074475" "GLDC" "0000074476" "GLDC" "0000074477" "GLDC" "0000074478" "GLDC" "0000074479" "GLDC" "0000074480" "GLDC" "0000074481" "GLDC" "0000074482" "GLDC" "0000074483" "GLDC" "0000074485" "GLDC" "0000074486" "GLDC" "0000074488" "GLDC" "0000074490" "GLDC" "0000074491" "GLDC" "0000074492" "GLDC" "0000074493" "GLDC" "0000074495" "GLDC" "0000074496" "GLDC" "0000074497" "GLDC" "0000074498" "GLDC" "0000074499" "GLDC" "0000074500" "GLDC" "0000074501" "GLDC" "0000074502" "GLDC" "0000074503" "GLDC" "0000074504" "GLDC" "0000074505" "GLDC" "0000074552" "GLDC" "0000074553" "GLDC" "0000080065" "GLDC" "0000095820" "GLDC" "0000151005" "GLDC" "0000287094" "GLDC" "0000307042" "BEST1" "0000307042" "IRF2BPL" "0000307348" "GLDC" "0000321181" "GLDC" "0000375525" "GLDC" "0000421305" "WRN" "0000425868" "GLDC" "0000454621" "GLDC" ## 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 = 1189 "{{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}}" "0000001574" "0" "99" "9" "6588417" "6588417" "subst" "0.000219314" "00015" "GLDC_000001" "g.6588417C>A" "" "{PMID:Kure et al. 1992:1634607}" "" "FIN major" "Finnish major GCE mutation: 70% of Finnish GCE patients" "SUMMARY record" "yes" "rs121964974" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000001575" "0" "99" "9" "6554717" "6554719" "del" "0" "00015" "GLDC_000002" "g.6554717_6554719del" "" "{PMID:Kure et al. 1991:1996985}" "" "" "1 GCE patient" "SUMMARY record" "yes" "" "0" "" "" "g.6554717_6554719del" "" "pathogenic" "" "0000001576" "0" "95" "9" "6532464" "6645307" "del" "0" "00015" "GLDC_000003" "g.(?_6532464)_(6645307_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exons 1-25del (whole gene)" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001577" "0" "99" "9" "6565354" "6645307" "del" "0" "00015" "GLDC_000004" "g.(?_6565354)_(6645307_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exons 1-16" "1 Pakistani GCE family" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001578" "0" "99" "9" "6558559" "6645307" "del" "0" "00015" "GLDC_000005" "g.(?_6558559)_(6645307_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exons 1-17" "2 GCE families" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001579" "0" "99" "9" "6645245" "6645307" "del" "0" "00015" "GLDC_000006" "g.(?_6645245)_(6645307_?)del" "" "{PMID:Kure et al. 2002:12402263}, {PMID:Kure et al. 2006:16450403}, {PMID:Contel et al. 2006:16601880}, {PMID:Kanno et al. 2007:17361008}" "" "del Exon 1" "9 GCE families" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001580" "0" "99" "9" "6644614" "6645307" "del" "0" "00015" "GLDC_000007" "g.(?_6644614)_(6645307_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exons 1-2" "2 GCE families" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001581" "0" "99" "9" "6620184" "6645307" "del" "0" "00015" "GLDC_000008" "g.(?_6620184)_(6645307_?)del" "" "{PMID:Takayanagi et al. 2000:10798358}, {PMID:Kanno et al. 2007:17361008}" "" "del Exons 1-3" "3 Oriental GCE families and 1 GCE patient" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001582" "0" "99" "9" "6645498" "6645498" "subst" "0" "00015" "GLDC_000009" "g.6645498A>G" "" "{PMID:Boneh et al. 2005:15864413}" "" "M1T" "6 extended Arab GCE families from a small suburban village" "SUMMARY record" "yes" "rs121964978" "0" "" "" "g.6645498A>G" "" "pathogenic" "" "0000001583" "0" "99" "9" "6645472" "6645472" "del" "0" "00015" "GLDC_000010" "g.6645472del" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 GCE patient" "SUMMARY record" "yes" "" "0" "" "" "g.6645472del" "" "pathogenic" "" "0000001585" "0" "77" "9" "6645324" "6645324" "subst" "0" "00015" "GLDC_000011" "g.6645324C>G" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6645324C>G" "" "likely pathogenic" "" "0000001586" "0" "77" "9" "6645244" "6645244" "subst" "0" "00015" "GLDC_000012" "g.6645244C>T" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6645244C>T" "" "likely pathogenic" "" "0000001587" "0" "99" "9" "6602109" "6620319" "del" "0" "00015" "GLDC_000013" "g.(?_6602109)_(6620319_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exons 3-8" "1 Oriental GCE family" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001588" "0" "99" "9" "6595014" "6620319" "del" "0" "00015" "GLDC_000014" "g.(?_6595014)_(6620319_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exons 3-9" "1 Oriental GCE family" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001589" "21" "99" "9" "6587141" "6620319" "del" "0" "00015" "GLDC_000015" "g.(?_6587141)_(6620319_?)del" "" "{PMID:Sellner et al. 2005:15670722}" "" "del Exons 3–15: skipping from exon 2 to exon 16" "1 GCE patient (Patient 1; com-het)" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001590" "0" "99" "9" "6550803" "6620319" "del" "0" "00015" "GLDC_000016" "g.(?_6550803)_(6620319_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exons 3-21" "1 Caucasian GCE family" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001591" "0" "99" "9" "6610192" "6620319" "del" "0" "00015" "GLDC_000017" "g.(?_6610192)_(6620319_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "" "1 Oriental GCE family" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001592" "0" "99" "9" "6540051" "6620319" "del" "0" "00015" "GLDC_000018" "g.(?_6540051)_(6620319_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exons 3-22" "1 caucasian GCE family" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001593" "0" "77" "9" "6620259" "6620259" "subst" "0" "00015" "GLDC_000019" "g.6620259G>C" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 GCE patient" "SUMMARY record" "yes" "" "0" "" "" "g.6620259G>C" "" "likely pathogenic" "" "0000001594" "0" "77" "9" "6620241" "6620241" "subst" "0" "00015" "GLDC_000020" "g.6620241T>A" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 GCE patient" "SUMMARY record" "yes" "" "0" "" "" "g.6620241T>A" "" "likely pathogenic" "" "0000001604" "0" "99" "9" "6620205" "6620205" "subst" "0" "00015" "GLDC_000021" "g.6620205T>G" "" "{PMID:Kure et al. 2003:15192636}" "" "" "1 Japanese GCE patient (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6620205T>G" "" "pathogenic" "" "0000001605" "0" "99" "9" "6602109" "6606669" "del" "0" "00015" "GLDC_000022" "g.(?_6602109)_(6606669_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exons 5-8" "1 Caucasian GCE family (com-het)" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001606" "0" "99" "9" "6620197" "6620197" "subst" "0" "00015" "GLDC_000023" "g.6620197C>A" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 GCE patient (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6620197C>A" "" "pathogenic" "" "0000001607" "3" "97" "9" "6610345" "6610345" "subst" "0" "00015" "GLDC_000024" "g.6610345T>C" "0/64 CONT" "{PMID:Korman et al. 2006:16404748}" "" "" "2 Palestinian Arab sibs (hom) with GCE" "SUMMARY record" "yes" "" "0" "" "" "g.6610345T>C" "" "pathogenic" "" "0000001608" "3" "99" "9" "6532464" "6610356" "del" "0" "00015" "GLDC_000025" "g.(?_6532464)_(6610356_?)del" "" "{PMID:Conter et al. 2006:16601880}" "" "del Exons 4–25" "1 Turkish GCE patient (hom)" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001609" "11" "73" "9" "6610314" "6610314" "subst" "0" "00015" "GLDC_000026" "g.6610314C>G" "" "{PMID:Conter et al. 2006:16601880}" "" "c.513G>C: p.G171A" "1 Swiss GCE patient (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6610314C>G" "" "likely pathogenic" "" "0000001610" "3" "77" "9" "6610267" "6610267" "subst" "0" "00015" "GLDC_000027" "g.6610267G>T" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 Turkish GCE patient (hom)" "SUMMARY record" "yes" "" "0" "" "" "g.6610267G>T" "" "likely pathogenic" "" "0000001611" "3" "77" "9" "6610222" "6610222" "subst" "0" "00015" "GLDC_000028" "g.6610222G>A" "0/50 CONT" "{PMID:Brunel-Guitton et al 2011:21411353}" "" "" "1 Caucasian GCE patient (hom)" "SUMMARY record" "yes" "" "0" "" "" "g.6610222G>A" "" "likely pathogenic" "" "0000001612" "11" "77" "9" "6610192" "6610192" "subst" "1.26276E-5" "00015" "GLDC_000029" "g.6610192C>T" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (het)" "SUMMARY record" "yes" "" "0" "" "" "g.6610192C>T" "" "likely pathogenic" "" "0000001613" "3" "99" "9" "6606599" "6606599" "subst" "4.06081E-6" "00015" "GLDC_000030" "g.6606599G>A" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (hom)" "SUMMARY record" "yes" "" "0" "" "" "g.6606599G>A" "" "pathogenic" "" "0000001614" "0" "99" "9" "6605200" "6605200" "del" "0" "00015" "GLDC_000031" "g.6605200del" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 Caucasian GCE family (P29;het)" "SUMMARY record" "yes" "" "0" "" "" "g.6605200del" "" "pathogenic" "" "0000001615" "0" "77" "9" "6605186" "6605186" "subst" "1.62441E-5" "00015" "GLDC_000032" "g.6605186G>A" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 Oriental GCE patient (P124; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6605186G>A" "" "likely pathogenic" "" "0000001616" "11" "99" "9" "6605184" "6605184" "subst" "0" "00015" "GLDC_000033" "g.6605184C>A" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 1; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6605184C>A" "" "pathogenic" "" "0000001617" "0" "77" "9" "6605145" "6605145" "subst" "4.06108E-6" "00015" "GLDC_000034" "g.6605145C>G" "" "{PMID:Toone et al. 2002:12126939}" "" "" "1 Newfoundland GCE patient (Patient 1; het)" "SUMMARY record" "yes" "" "0" "" "" "g.6605145C>G" "" "likely pathogenic" "" "0000001618" "10" "77" "9" "6604709" "6604709" "subst" "0" "00015" "GLDC_000035" "g.6604709C>G" "" "{PMID:Toone et al. 2002:12126939}" "" "" "1 Puerto Rican GCE patient (Patient 2; het)" "SUMMARY record" "yes" "" "0" "" "" "g.6604709C>G" "" "likely pathogenic" "" "0000001619" "11" "77" "9" "6605130" "6605130" "subst" "0" "00015" "GLDC_000036" "g.6605130C>A" "" "{PMID:Conter et al. 2006:16601880}" "" "mis-splicing, intron 6" "1 Moroccan GCE patient (Patient 21; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6605130C>A" "" "likely pathogenic" "" "0000001620" "3" "77" "9" "6604661" "6604661" "subst" "0" "00015" "GLDC_000037" "g.6604661G>T" "" "{PMID:Toone et al. 2002:12126939}" "" "" "2 Indian GCE patient (Patient 3; hom) and sib (hom)" "SUMMARY record" "yes" "" "0" "" "" "g.6604661G>T" "" "likely pathogenic" "" "0000001621" "0" "99" "9" "6604593" "6604593" "del" "0" "00015" "GLDC_000038" "g.6604593del" "" "{PMID:Toone et al. 2002:12126939}" "" "" "1 Mixed Northern European GCE patient (Patient 4; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6604593del" "" "pathogenic" "" "0000001622" "3" "71" "9" "6595046" "6595046" "subst" "0.00381366" "00015" "GLDC_000039" "g.6595046C>T" "" "{PMID:Toone et al. 2002:12126939}" "" "" "1 First Nations GCE patient (Patient 5; hom) and a 2nd cousin" "SUMMARY record" "yes" "rs144090917" "0" "" "" "g.6595046C>T" "" "likely pathogenic" "" "0000001623" "0" "77" "9" "6556257" "6556257" "subst" "0" "00015" "GLDC_000040" "g.6556257G>C" "" "{PMID:Toone et al. 2002:12126939}" "" "" "1 GCE patient of unknown ethnicity (Patient 6; het)" "SUMMARY record" "yes" "" "0" "" "" "g.6556257G>C" "" "likely pathogenic" "" "0000001624" "0" "77" "9" "6554783" "6554783" "subst" "0" "00015" "GLDC_000041" "g.6554783T>C" "" "{PMID:Toone et al. 2002:12126939}, {PMID:Kure et al. 2006:16450403}, {PMID:Ezgu et al. 2014:24407464}" "" "IVS18-2A tagGTG>tggGTG" "1 Hispanic GCE patient (het), 1 Turkish GCE patient (hom) and 1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6554783T>C" "" "likely pathogenic" "" "0000001625" "0" "77" "9" "6554700" "6554700" "subst" "0" "00015" "GLDC_000042" "g.6554700C>T" "" "{PMID:Toone et al. 2002:12126939}" "" "G762R GGA>AGA" "1 Hispanic GCE patient (Patient 8; het)" "SUMMARY record" "yes" "" "0" "" "" "g.6554700C>T" "" "likely pathogenic" "" "0000001627" "11" "99" "9" "6598089" "6602849" "del" "0" "00015" "GLDC_000043" "g.6598089_6602849del" "" "{PMID:Selner et al. 2005:15670722}" "" "deletion of 4761 bp from IVS7-644 to IVS8+4020" "1 GCE patient (Patient 1; com-het)\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "0" "" "" "g.6598089_6602849del" "" "pathogenic" "" "0000001628" "0" "99" "9" "6540060" "6540060" "subst" "0" "00015" "GLDC_000044" "g.6540060G>A" "" "{PMID:Selner et al. 2005:15670722}" "" "" "1 GCE patient (Patient 2; het)" "SUMMARY record" "yes" "" "0" "" "" "g.6540060G>A" "" "pathogenic" "" "0000001629" "0" "77" "9" "6589230" "6589230" "subst" "8.93387E-5" "00015" "GLDC_000045" "g.6589230C>G" "" "{PMID:Toone et al. 2000:10873393}, {PMID:Toone et al. 2001:11286506}, {PMID:Sellner et al. 2005:15670722}" "" "" "8 GCE patients" "SUMMARY record" "yes" "rs121964976" "0" "" "" "g.6589230C>G" "" "likely pathogenic" "" "0000001630" "0" "77" "9" "6604759" "6604759" "subst" "0" "00015" "GLDC_000046" "g.6604759A>C" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 Oriental GCE family (P10; het)" "SUMMARY record" "yes" "" "0" "" "" "g.6604759A>C" "" "likely pathogenic" "" "0000001631" "3" "99" "9" "6604649" "6604649" "dup" "0" "00015" "GLDC_000047" "g.6604649dup" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 Croatian GCE patient (Patient 28; hom)" "SUMMARY record" "yes" "" "0" "" "" "g.6604649dup" "" "pathogenic" "" "0000001632" "0" "99" "9" "6604637" "6604637" "subst" "1.21872E-5" "00015" "GLDC_000048" "g.6604637G>A" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 German GCE patient (Patient 24; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000001633" "21" "77" "9" "6602147" "6602147" "subst" "1.62459E-5" "00015" "GLDC_000049" "g.6602147G>A" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 25; com-het)" "SUMMARY record" "yes" "rs150171524" "0" "" "" "g.6602147G>A" "" "likely pathogenic" "" "0000001634" "0" "99" "9" "6592982" "6592982" "subst" "2.03714E-5" "00015" "GLDC_000050" "g.6592982G>A" "" "{PMID:Conter et al. 2006:16601880}, Published originally in: Van Hove JLK, Mathieu V, Schollen E, et al (2003) Prognosis of nonketotic hyperglycinemia. J Inherit Metab Dis 26(Supplement 2):A141-O" "" "" "GCE mutation" "SUMMARY record" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000001635" "21" "99" "9" "6592966" "6592967" "ins" "0" "00015" "GLDC_000051" "g.6592966_6592967insTTTG" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 Swiss GCE patient (Patient 12; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6592966_6592967insTTTG" "" "pathogenic" "" "0000001636" "0" "77" "9" "6592933" "6592933" "subst" "0" "00015" "GLDC_000052" "g.6592933A>T" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 23; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6592933A>T" "" "likely pathogenic" "" "0000001637" "0" "77" "9" "6592870" "6592870" "subst" "8.12295E-6" "00015" "GLDC_000053" "g.6592870C>T" "" "{PMID:Conter et al. 2006:16601880}, Published originally: Van Hove JLK, Mathieu V, Schollen E, et al (2003) Prognosis of nonketotic hyperglycinemia. J Inherit Metab Dis 26(Supplement 2): A141-O" "" "" "GCE mutation" "SUMMARY record" "yes" "" "0" "" "" "g.6592870C>T" "" "likely pathogenic" "" "0000001638" "0" "77" "9" "6588686" "6588686" "subst" "0" "00015" "GLDC_000054" "g.6588686T>A" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 5; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6588686T>A" "" "likely pathogenic" "" "0000001639" "0" "77" "9" "6558680" "6558680" "subst" "0" "00015" "GLDC_000055" "g.6558680C>A" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 5; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6558680C>A" "" "likely pathogenic" "" "0000001640" "3" "77" "9" "6558659" "6558659" "subst" "0" "00015" "GLDC_000056" "g.6558659T>C" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 Spanish GCE patient (Patient 20; hom)" "SUMMARY record" "yes" "" "0" "" "" "g.6558659T>C" "" "likely pathogenic" "" "0000001641" "11" "71" "9" "6556242" "6556242" "subst" "0.00382566" "00015" "GLDC_000057" "g.6556242C>T" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 18; com-het)" "SUMMARY record" "yes" "rs147275962" "0" "" "" "g.6556242C>T" "" "likely pathogenic" "" "0000001642" "11" "99" "9" "6556200" "6556202" "delins" "0" "00015" "GLDC_000058" "g.6556200_6556202delinsTAAACCAGGA" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 Moroccan GCE patient (Patient 21; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6556200_6556202delinsTAAACCAGGA" "" "pathogenic" "" "0000001643" "21" "99" "9" "6556169" "6556169" "del" "0" "00015" "GLDC_000059" "g.6556169del" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 1; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6556169del" "" "pathogenic" "" "0000001644" "21" "77" "9" "6556159" "6556159" "subst" "0" "00015" "GLDC_000060" "g.6556159A>T" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 26; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6556159A>T" "" "likely pathogenic" "" "0000001645" "0" "77" "9" "6554673" "6554673" "subst" "0" "00015" "GLDC_000061" "g.6554673C>T" "" "{PMID:Kure et al. 2004:15192636}, {PMID:Conter et al. 2006:16601880}, Originally published: Kure S, et al (2003) A comprehensive mutation analysis of GLDC, AMT and GCSH in glycine encephalopathy. J Inherit Metab Dis 26(Supplement 2): 132-O." "" "" "4 or more GCE families." "SUMMARY record" "yes" "" "0" "" "" "g.6554673C>T" "" "likely pathogenic" "" "0000001646" "21" "77" "9" "6553510" "6553510" "subst" "3.28574E-5" "00015" "GLDC_000062" "g.6553510C>T" "" "{PMID:Conter et al. 2006:16601880}" "" "c.2315-1G>A" "1 German GCE patient (Patient 14; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6553510C>T" "" "likely pathogenic" "" "0000001647" "0" "77" "9" "6553501" "6553501" "subst" "1.21874E-5" "00015" "GLDC_000063" "g.6553501T>C" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 German GCE patient (Patient 24; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6553501T>C" "" "likely pathogenic" "" "0000001648" "11" "77" "9" "6592224" "6592224" "subst" "0" "00015" "GLDC_000064" "g.6592224C>G" "" "{PMID:Conter et al. 2006:16601880}" "" "c.1402-1C>G/c.1401-1C>G mis-splicing" "1 French GCE patient (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6592224C>G" "" "likely pathogenic" "" "0000001649" "21" "99" "9" "6553403" "6553403" "del" "0" "00015" "GLDC_000065" "g.6553403del" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 2; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6553403del" "" "pathogenic" "" "0000001650" "0" "77" "9" "6550883" "6550883" "subst" "1.6243E-5" "00015" "GLDC_000066" "g.6550883G>A" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 German GCE patient (Patient 3; het)" "SUMMARY record" "yes" "" "0" "" "" "g.6550883G>A" "" "likely pathogenic" "" "0000001651" "11" "77" "9" "6550851" "6550851" "subst" "0" "00015" "GLDC_000067" "g.6550851C>G" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 22; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6550851C>G" "" "likely pathogenic" "" "0000001652" "0" "77" "9" "6540077" "6540077" "subst" "0" "00015" "GLDC_000068" "g.6540077T>A" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 5; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6540077T>A" "" "likely pathogenic" "" "0000001653" "11" "77" "9" "6536059" "6536059" "subst" "4.0701E-6" "00015" "GLDC_000069" "g.6536059C>T" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (Patient 26; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6536059C>T" "" "likely pathogenic" "" "0000001654" "21" "77" "9" "6534758" "6534758" "subst" "8.12929E-6" "00015" "GLDC_000070" "g.6534758A>G" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French-Vietnamese GCE patient (Patient 9; het)" "SUMMARY record" "yes" "" "0" "" "" "g.6534758A>G" "" "likely pathogenic" "" "0000001655" "11" "77" "9" "6534731" "6534731" "subst" "0" "00015" "GLDC_000071" "g.6534731T>C" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 Spanish GCE patient (Patient 6; het)" "SUMMARY record" "yes" "" "0" "" "" "g.6534731T>C" "" "likely pathogenic" "" "0000001656" "0" "77" "9" "6534707" "6534707" "subst" "1.63043E-5" "00015" "GLDC_000072" "g.6534707C>T" "" "{PMID:Conter et al. 2006:16601880}" "" "" "2 French GCE patients (Patient 7; het and Patient 19; hom)" "SUMMARY record" "yes" "" "0" "" "" "g.6534707C>T" "" "likely pathogenic" "" "0000001657" "0" "99" "9" "6645255" "6645255" "subst" "0" "00015" "GLDC_000073" "g.6645255A>C" "" "{PMID:Kure et al. 2003:15192636}" "" "" "1 Japanese GCE patient (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6645255A>C" "" "pathogenic" "" "0000001658" "21" "77" "9" "6602153" "6602153" "subst" "0" "00015" "GLDC_000074" "g.6602153G>C" "" "{PMID:Chang et al. 2008:18581728}" "" "" "1 Taiwanese GCE patient (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6602153G>C" "" "likely pathogenic" "" "0000001659" "3" "99" "9" "6595013" "6595120" "" "0" "00015" "GLDC_000075" "g.(6592991_6595013)_(6595120_6602108)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exon 9" "1 Caucasian GCE patient (hom)" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001660" "0" "99" "9" "6592182" "6592182" "dup" "0" "00015" "GLDC_000076" "g.6592182dup" "" "{PMID:Kure et al. 2006:16450403}" "" "c.1443insG" "1 Caucasian GCE patient (P104; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6592182dup" "" "pathogenic" "" "0000001661" "0" "77" "9" "6588688" "6588688" "subst" "4.0656E-6" "00015" "GLDC_000077" "g.6588688G>C" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 Caucasian GCE patient (P39; com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6588688G>C" "" "likely pathogenic" "" "0000001662" "0" "71" "9" "6588403" "6588403" "subst" "0.0043622" "00015" "GLDC_000078" "g.6588403C>T" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE patient" "SUMMARY record" "yes" "rs151268759" "0" "" "" "g.6588403C>T" "" "likely pathogenic" "" "0000001663" "0" "99" "9" "6587205" "6587205" "subst" "1.21821E-5" "00015" "GLDC_000079" "g.6587205G>A" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE patient" "SUMMARY record" "yes" "" "0" "" "" "g.6587205G>A" "" "pathogenic" "" "0000001664" "0" "99" "9" "6587164" "6587174" "del" "0" "00015" "GLDC_000080" "g.6587164_6587174del" "" "{PMID:Kure et al. 2004:15192636}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6587164_6587174del" "" "pathogenic" "" "0000001665" "0" "77" "9" "6587159" "6587159" "subst" "0" "00015" "GLDC_000081" "g.6587159A>C" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6587159A>C" "" "likely pathogenic" "" "0000001666" "0" "77" "9" "6565353" "6565353" "subst" "0" "00015" "GLDC_000082" "g.6565353C>T" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6565353C>T" "" "likely pathogenic" "" "0000001667" "0" "99" "9" "6558615" "6558615" "subst" "0" "00015" "GLDC_000083" "g.6558615G>A" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6558615G>A" "" "pathogenic" "" "0000001668" "0" "77" "9" "6556275" "6556275" "subst" "0" "00015" "GLDC_000084" "g.6556275C>G" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6556275C>G" "" "likely pathogenic" "" "0000001669" "0" "77" "9" "6556250" "6556250" "subst" "0" "00015" "GLDC_000085" "g.6556250G>A" "" "{PMID:Kure et al. 2006:16450403}" "" "c.2105C>T; S701F" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6556250G>A" "" "likely pathogenic" "" "0000001670" "0" "77" "9" "6556173" "6556173" "subst" "0" "00015" "GLDC_000086" "g.6556173C>G" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6556173C>G" "" "likely pathogenic" "" "0000001672" "0" "99" "9" "6554771" "6554772" "del" "0" "00015" "GLDC_000087" "g.6554771_6554772del" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6554771_6554772del" "" "pathogenic" "" "0000001673" "0" "77" "9" "6554726" "6554726" "subst" "0" "00015" "GLDC_000088" "g.6554726T>G" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6554726T>G" "" "likely pathogenic" "" "0000001674" "0" "77" "9" "6554691" "6554691" "subst" "0" "00015" "GLDC_000089" "g.6554691G>A" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6554691G>A" "" "likely pathogenic" "" "0000001675" "0" "77" "9" "6554678" "6554678" "subst" "0" "00015" "GLDC_000090" "g.6554678G>A" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6554678G>A" "" "likely pathogenic" "" "0000001676" "0" "77" "9" "6550853" "6550853" "subst" "0" "00015" "GLDC_000091" "g.6550853A>T" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6550853A>T" "" "likely pathogenic" "" "0000001677" "0" "77" "9" "6553457" "6553457" "subst" "8.12137E-6" "00015" "GLDC_000092" "g.6553457G>A" "" "{PMID:Kure et al. 2004:15192636}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6553457G>A" "" "likely pathogenic" "" "0000001678" "0" "99" "9" "6540142" "6540142" "subst" "0" "00015" "GLDC_000093" "g.6540142A>C" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6540142A>C" "" "pathogenic" "" "0000001679" "0" "77" "9" "6540050" "6540050" "subst" "1.62483E-5" "00015" "GLDC_000094" "g.6540050C>G" "" "{PMID:Kure et al. 2006:16450403}" "" "" "2 GCE families" "SUMMARY record" "yes" "rs149070244" "0" "" "" "g.6540050C>G" "" "likely pathogenic" "" "0000001680" "0" "77" "9" "6536188" "6536188" "subst" "5.30283E-5" "00015" "GLDC_000095" "g.6536188A>C" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "rs188269735" "0" "" "" "g.6536188A>C" "" "likely pathogenic" "" "0000001681" "0" "77" "9" "6534789" "6534789" "subst" "0" "00015" "GLDC_000096" "g.6534789C>G" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6534789C>G" "" "likely pathogenic" "" "0000001682" "0" "77" "9" "6534781" "6534781" "subst" "0" "00015" "GLDC_000097" "g.6534781G>A" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6534781G>A" "" "likely pathogenic" "" "0000001683" "0" "99" "9" "6534736" "6534736" "dup" "0" "00015" "GLDC_000098" "g.6534736dup" "" "{PMID:Kure et al. 2006:16450403}" "" "" "1 GCE family" "SUMMARY record" "yes" "" "0" "" "" "g.6534736dup" "" "pathogenic" "" "0000001684" "3" "77" "9" "6595109" "6595109" "subst" "2.84645E-5" "00015" "GLDC_000099" "g.6595109G>A" "0/200 CON" "{PMID:Dinopoulos et al. 2005:15824356}" "" "" "2 GCE families (both hom)" "SUMMARY record" "yes" "rs121964979" "0" "" "" "g.6595109G>A" "" "likely pathogenic" "" "0000001685" "0" "99" "9" "6587141" "6589292" "del" "0" "00015" "GLDC_000100" "g.(?_6587141)_(6589292_?)del" "" "{PMID:Kanno et al. 2007:17361008}" "" "del Exons 12-15" "4 oriental GCE families" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001686" "0" "77" "9" "6588629" "6588629" "subst" "0" "00015" "GLDC_000101" "g.6588629T>C" "" "{PMID:Meyer et al. 2010:20933183}" "" "" "1 GCE patient" "SUMMARY record" "yes" "" "0" "" "" "g.6588629T>C" "" "likely pathogenic" "" "0000001687" "0" "77" "9" "6554703" "6554703" "subst" "0.000162969" "00015" "GLDC_000102" "g.6554703C>T" "" "(Abstract) Am. J. Hum. Genet. 65: 2406 only, 1999, : Program Nr: 2406 from the 1999 ASHG Annual Meeting, and unpublished Finnish data" "" "FIN minor, G761R, HGMD-CM016186" "Finnish Minor GCE mutation" "SUMMARY record" "yes" "" "0" "" "" "g.6554703C>T" "" "likely pathogenic" "" "0000001688" "0" "77" "9" "6553420" "6553420" "subst" "4.06108E-6" "00015" "GLDC_000103" "g.6553420G>A" "" "{PMID:Korman et al. 2004:15236413}" "" "" "3 homozygous GCE patients" "SUMMARY record" "yes" "rs121964977" "0" "" "" "g.6553420G>A" "" "likely pathogenic" "" "0000001689" "0" "99" "9" "6553411" "6553411" "subst" "0" "00015" "GLDC_000104" "g.6553411C>T" "" "{PMID:Kure et al. 2002:12402263}" "" "TAG>TGG: W805X" "1 GCE patient" "SUMMARY record" "yes" "" "0" "" "" "g.6553411C>T" "" "pathogenic" "" "0000001690" "3" "99" "9" "6540109" "6540109" "subst" "8.5293E-5" "00015" "GLDC_000105" "g.6540109G>T" "" "{PMID:Flusser et al. 2005:15851735}" "" "3 cDNA splice variants: exon 22 del, exon 22-23 del and 87-bp ins" "9 homozygous consanguineous Israeli Bedouin kindred with GCE" "SUMMARY record" "yes" "" "0" "" "" "g.6540109G>T" "" "pathogenic" "" "0000016583" "3" "77" "9" "6554768" "6554768" "subst" "3.71091E-5" "00015" "GLDC_000106" "g.6554768C>T" "0/200 CON" "{PMID:Dinopoulos et al. 2005:15824356}" "" "" "1 GCE family (hom)" "SUMMARY record" "yes" "rs121964980" "0" "" "" "g.6554768C>T" "" "likely pathogenic" "" "0000016973" "0" "99" "9" "6595100" "6595100" "del" "0" "00015" "GLDC_000107" "g.6595100del" "" "{PMID:Conter et al. 2006:16601880}" "" "" "1 French GCE patient (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.6595100del" "" "pathogenic" "" "0000018112" "3" "77" "9" "6554688" "6554688" "subst" "0" "00015" "GLDC_000108" "g.6554688C>A" "" "{PMID:Love et al. 2014:23349517}" "" "" "1 Indian family (hom) with GCE" "SUMMARY record" "yes" "" "0" "" "" "g.6554688C>A" "" "likely pathogenic" "" "0000036142" "0" "77" "9" "6565421" "6565421" "subst" "0" "00015" "GLDC_000109" "g.6565421T>C" "" "{PMID:Kanekar et al. 2013:23712728}" "" "" "1 GCE patient (het)" "SUMMARY record" "yes" "" "0" "" "" "g.6565421T>C" "" "likely pathogenic" "" "0000046797" "3" "77" "9" "6587249" "6587249" "subst" "1.62438E-5" "00015" "GLDC_000110" "g.6587249G>C" "" "{PMID:Rodríguez-Benítez et al. 2014:22206881}" "" "" "1 patient with GCE (hom)" "SUMMARY record" "yes" "" "0" "" "" "g.6587249G>C" "" "likely pathogenic" "" "0000079484" "0" "90" "9" "204104" "8198999" "del" "0" "00006" "GLDC_000111" "g.204104_8198999del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.204104_8198999del" "" "pathogenic" "" "0000117724" "1" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000117725" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117726" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117727" "1" "90" "9" "6595115" "6595115" "subst" "0" "01206" "GLDC_000277" "g.6595115G>A" "" "" "" "" "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" "yes" "" "0" "" "" "g.6595115G>A" "" "pathogenic" "" "0000117728" "1" "90" "9" "6606670" "6606670" "subst" "0" "01206" "GLDC_000329" "g.6606670C>G" "" "" "" "IVS4-1G>C" "" "Germline" "yes" "" "0" "" "" "g.6606670C>G" "" "pathogenic" "" "0000117729" "1" "90" "9" "6595013" "6595120" "del" "0" "01206" "GLDC_000075" "g.(6592991_6595013)_(6595120_6602108)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117730" "1" "90" "9" "6565430" "6565430" "subst" "4.06177E-6" "01206" "GLDC_000219" "g.6565430C>T" "" "" "" "IVS15-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6565430C>T" "" "pathogenic" "" "0000117731" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117732" "1" "90" "9" "6556205" "6556205" "subst" "0" "01206" "GLDC_000189" "g.6556205A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556205A>T" "" "pathogenic" "" "0000117733" "1" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000117734" "1" "90" "9" "6605145" "6605145" "subst" "4.06108E-6" "01206" "GLDC_000034" "g.6605145C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605145C>G" "" "pathogenic" "" "0000117735" "1" "90" "9" "6644693" "6645500" "del" "0" "01206" "GLDC_000006" "g.(6644693_6645244)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117736" "1" "90" "9" "6558685" "6645500" "del" "0" "01206" "GLDC_000004" "g.(6558685_6565353)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117737" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117738" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117739" "1" "90" "9" "6556155" "6556155" "subst" "0" "01206" "GLDC_000180" "g.6556155G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556155G>A" "" "pathogenic" "" "0000117740" "1" "90" "9" "6550883" "6550883" "subst" "0" "01206" "GLDC_000143" "g.6550883G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550883G>T" "" "pathogenic" "" "0000117741" "1" "90" "9" "6602108" "6606670" "del" "0" "01206" "GLDC_000022" "g.(6595120_6602108)_(6606670_6610191)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117742" "1" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117743" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117744" "1" "90" "9" "6606599" "6606599" "subst" "4.06081E-6" "01206" "GLDC_000030" "g.6606599G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6606599G>A" "" "pathogenic" "" "0000117745" "1" "90" "9" "6534742" "6534742" "subst" "0" "01206" "GLDC_000370" "g.6534742C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534742C>G" "" "pathogenic" "" "0000117746" "1" "90" "9" "6644695" "6644695" "subst" "0" "01206" "GLDC_000359" "g.6644695A>C" "" "" "" "IVS1-3T>G" "" "Germline" "yes" "" "0" "" "" "g.6644695A>C" "" "pathogenic" "" "0000117747" "1" "90" "9" "6556208" "6556208" "subst" "0.000235556" "01206" "GLDC_000190" "g.6556208A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556208A>T" "" "pathogenic" "" "0000117748" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117749" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117753" "1" "90" "9" "6602156" "6602156" "subst" "0" "01206" "GLDC_000286" "g.6602156G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602156G>A" "" "pathogenic" "" "0000117754" "1" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000117755" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117756" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117757" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117758" "1" "90" "9" "6644609" "6644609" "subst" "0" "01206" "GLDC_000357" "g.6644609C>T" "" "" "" "IVS2+5G>A" "" "Germline" "yes" "" "0" "" "" "g.6644609C>T" "" "pathogenic" "" "0000117759" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117760" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117761" "1" "90" "9" "6587140" "6620320" "dup" "0" "01206" "GLDC_000224" "g.(6565430_6587140)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117762" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117763" "1" "90" "9" "6554667" "6554667" "subst" "0" "01206" "GLDC_000163" "g.6554667A>T" "" "" "" "IVS19+2T>A" "" "Germline" "yes" "" "0" "" "" "g.6554667A>T" "" "pathogenic" "" "0000117764" "1" "90" "9" "6645476" "6645476" "subst" "0" "01206" "GLDC_000366" "g.6645476C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6645476C>T" "" "pathogenic" "" "0000117765" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117766" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117767" "1" "90" "9" "6588423" "6588423" "subst" "0" "01206" "GLDC_000239" "g.6588423A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588423A>G" "" "pathogenic" "" "0000117768" "1" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117769" "1" "90" "9" "6554783" "6554783" "subst" "0" "01206" "GLDC_000041" "g.6554783T>C" "" "" "" "IVS18-2A>G" "" "Germline" "yes" "" "0" "" "" "g.6554783T>C" "" "pathogenic" "" "0000117770" "1" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000117771" "1" "90" "9" "6602108" "6620320" "del" "0" "01206" "GLDC_000013" "g.(6595120_6602108)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117772" "1" "90" "9" "6533016" "6533161" "del" "0" "01206" "GLDC_000400" "g.(?_6533016)_(6533161_6534707)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117773" "1" "90" "9" "6595095" "6595095" "del" "0" "01206" "GLDC_000275" "g.6595095del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595095del" "" "pathogenic" "" "0000117774" "1" "90" "9" "6534703" "6534703" "subst" "4.0784E-6" "01206" "GLDC_000395" "g.6534703C>A" "" "" "" "IVS24+5G>T" "" "Germline" "yes" "" "0" "" "" "g.6534703C>A" "" "pathogenic" "" "0000117775" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117776" "1" "90" "9" "6589193" "6589193" "subst" "0" "01206" "GLDC_000252" "g.6589193A>C" "" "" "" "IVS12+2T>G" "" "Germline" "yes" "" "0" "" "" "g.6589193A>C" "" "pathogenic" "" "0000117777" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117779" "1" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117781" "1" "90" "9" "6565384" "6565384" "subst" "0" "01206" "GLDC_000208" "g.6565384G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565384G>C" "" "pathogenic" "" "0000117782" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117783" "1" "90" "9" "6587140" "6587140" "subst" "0" "01206" "GLDC_000226" "g.6587140C>A" "" "" "" "IVS15+1G>T" "" "Germline" "yes" "" "0" "" "" "g.6587140C>A" "" "pathogenic" "" "0000117784" "1" "90" "9" "6610357" "6645500" "del" "0" "01206" "GLDC_000008" "g.(6610357_6620183)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117785" "1" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117786" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117787" "1" "90" "9" "6533016" "6540147" "del" "0" "01206" "GLDC_000115" "g.(?_6533016)_(6540147_6550802)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117788" "1" "90" "9" "6534742" "6534742" "subst" "0" "01206" "GLDC_000370" "g.6534742C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534742C>G" "" "pathogenic" "" "0000117789" "1" "90" "9" "6565392" "6565392" "subst" "4.06147E-6" "01206" "GLDC_000211" "g.6565392G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565392G>A" "" "pathogenic" "" "0000117790" "1" "90" "9" "6605129" "6605129" "subst" "0" "01206" "GLDC_000316" "g.6605129A>G" "" "" "" "IVS6+2T>C" "" "Germline" "yes" "" "0" "" "" "g.6605129A>G" "" "pathogenic" "" "0000117791" "1" "90" "9" "6550848" "6550848" "subst" "0" "01206" "GLDC_000140" "g.6550848T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550848T>A" "" "pathogenic" "" "0000117792" "1" "90" "9" "6602108" "6610357" "del" "0" "01206" "GLDC_000279" "g.(6595120_6602108)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117793" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117794" "1" "90" "9" "6554673" "6554673" "subst" "0" "01206" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554673C>T" "" "pathogenic" "" "0000117797" "1" "90" "9" "6602116" "6602116" "subst" "4.06147E-6" "01206" "GLDC_000281" "g.6602116G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602116G>A" "" "pathogenic" "" "0000117798" "1" "90" "9" "6620296" "6620303" "del" "0" "01206" "GLDC_000114" "g.6620296_6620303del" "" "" "" "355-362del8" "" "Germline" "yes" "" "0" "" "" "g.6620296_6620303del" "" "pathogenic" "" "0000117799" "1" "90" "9" "6587172" "6587172" "subst" "0" "01206" "GLDC_000232" "g.6587172C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587172C>T" "" "pathogenic" "" "0000117800" "1" "90" "9" "6540147" "6645500" "del" "0" "01206" "GLDC_000138" "g.(6540147_6550802)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117801" "1" "90" "9" "6620259" "6620259" "subst" "8.12123E-6" "01206" "GLDC_000353" "g.6620259G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620259G>A" "" "pathogenic" "" "0000117802" "1" "90" "9" "6550916" "6550916" "subst" "0" "01206" "GLDC_000146" "g.6550916T>C" "" "" "" "IVS21-2A>G" "" "Germline" "yes" "" "0" "" "" "g.6550916T>C" "" "pathogenic" "" "0000117803" "1" "90" "9" "6558642" "6558642" "subst" "0" "01206" "GLDC_000200" "g.6558642T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558642T>G" "" "pathogenic" "" "0000117804" "1" "90" "9" "6605145" "6605145" "subst" "4.06108E-6" "01206" "GLDC_000034" "g.6605145C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605145C>G" "" "pathogenic" "" "0000117805" "1" "90" "9" "6536224" "6536224" "subst" "4.087E-6" "01206" "GLDC_000368" "g.6536224G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536224G>A" "" "pathogenic" "" "0000117806" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117807" "1" "90" "9" "6588430" "6588430" "subst" "0" "01206" "GLDC_000240" "g.6588430T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588430T>C" "" "pathogenic" "" "0000117808" "1" "90" "9" "6533016" "6620320" "del" "0" "01206" "GLDC_000401" "g.(?_6533016)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117811" "1" "90" "9" "6565384" "6565384" "subst" "0" "01206" "GLDC_000209" "g.6565384G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565384G>T" "" "pathogenic" "" "0000117812" "1" "90" "9" "6554768" "6554768" "subst" "3.71091E-5" "01206" "GLDC_000106" "g.6554768C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554768C>T" "" "pathogenic" "" "0000117813" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117814" "1" "90" "9" "6558592" "6558592" "subst" "0" "01206" "GLDC_000196" "g.6558592A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558592A>T" "" "pathogenic" "" "0000117815" "1" "90" "9" "6592182" "6592182" "del" "0" "01206" "GLDC_000254" "g.6592182del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592182del" "" "pathogenic" "" "0000117817" "1" "90" "9" "6606670" "6645500" "del" "0" "01206" "GLDC_000331" "g.(6606670_6610191)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117818" "1" "90" "9" "6610222" "6610222" "subst" "0" "01206" "GLDC_000028" "g.6610222G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610222G>A" "" "pathogenic" "" "0000117819" "1" "90" "9" "6605192" "6605192" "subst" "8.12183E-6" "01206" "GLDC_000319" "g.6605192G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605192G>A" "" "pathogenic" "" "0000117820" "1" "90" "9" "6620259" "6620259" "subst" "8.12123E-6" "01206" "GLDC_000353" "g.6620259G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620259G>A" "" "pathogenic" "" "0000117821" "1" "90" "9" "6620259" "6620259" "subst" "8.12123E-6" "01206" "GLDC_000353" "g.6620259G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620259G>A" "" "pathogenic" "" "0000117823" "1" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117825" "1" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000117827" "1" "90" "9" "6592942" "6592942" "subst" "0" "01206" "GLDC_000265" "g.6592942G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592942G>A" "" "pathogenic" "" "0000117829" "1" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000117830" "1" "90" "9" "6534707" "6534707" "subst" "1.63043E-5" "01206" "GLDC_000072" "g.6534707C>T" "" "" "" "IVS24+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6534707C>T" "" "pathogenic" "" "0000117831" "1" "90" "9" "6589193" "6589193" "subst" "0" "01206" "GLDC_000252" "g.6589193A>C" "" "" "" "IVS12+2T>G" "" "Germline" "yes" "" "0" "" "" "g.6589193A>C" "" "pathogenic" "" "0000117832" "1" "90" "9" "6533100" "6533100" "subst" "0" "01206" "GLDC_000390" "g.6533100C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533100C>T" "" "pathogenic" "" "0000117833" "1" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000117834" "1" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117835" "1" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000117836" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117837" "1" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "01206" "GLDC_000032" "g.6605186G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605186G>A" "" "pathogenic" "" "0000117838" "1" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000117840" "1" "90" "9" "6644693" "6645500" "del" "0" "01206" "GLDC_000006" "g.(6644693_6645244)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117841" "1" "90" "9" "6604774" "6604774" "subst" "0" "01206" "GLDC_000313" "g.6604774C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604774C>T" "" "pathogenic" "" "0000117842" "1" "90" "9" "6602186" "6602186" "subst" "1.21902E-5" "01206" "GLDC_000292" "g.6602186C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602186C>G" "" "pathogenic" "" "0000117843" "1" "90" "9" "0" "0" "" "0" "01206" "GLDC_000000" "g.?" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117844" "1" "90" "9" "6587172" "6587172" "subst" "0" "01206" "GLDC_000232" "g.6587172C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587172C>T" "" "pathogenic" "" "0000117845" "1" "90" "9" "6556169" "6556169" "del" "0" "01206" "GLDC_000059" "g.6556169del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556169del" "" "pathogenic" "" "0000117846" "1" "90" "9" "6550890" "6550893" "del" "0" "01206" "GLDC_000144" "g.6550890_6550893del" "" "" "" "2481_2484delACAA" "" "Germline" "yes" "" "0" "" "" "g.6550890_6550893del" "" "pathogenic" "" "0000117847" "1" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000117848" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117849" "1" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117850" "1" "90" "9" "6556172" "6556172" "subst" "0" "01206" "GLDC_000183" "g.6556172C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556172C>T" "" "pathogenic" "" "0000117853" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117854" "1" "90" "9" "6592871" "6592871" "subst" "8.12315E-6" "01206" "GLDC_000261" "g.6592871G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592871G>A" "" "pathogenic" "" "0000117857" "1" "90" "9" "6533161" "6645500" "del" "0" "01206" "GLDC_000394" "g.(6533161_6534707)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117858" "1" "90" "9" "6533016" "6645500" "del" "0" "01206" "GLDC_000402" "g.(?_6533016)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117859" "1" "90" "9" "6606670" "6645500" "del" "0" "01206" "GLDC_000331" "g.(6606670_6610191)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117860" "1" "90" "9" "6605263" "6605263" "del" "0" "01206" "GLDC_000324" "g.6605263del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605263del" "" "pathogenic" "" "0000117861" "1" "90" "9" "6558656" "6558656" "subst" "0" "01206" "GLDC_000202" "g.6558656C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558656C>T" "" "pathogenic" "" "0000117862" "1" "90" "9" "6540049" "6540049" "subst" "0" "01206" "GLDC_000127" "g.6540049A>G" "" "" "" "IVS22+2T>C" "" "Germline" "yes" "" "0" "" "" "g.6540049A>G" "" "pathogenic" "" "0000117863" "1" "90" "9" "6606599" "6606599" "subst" "4.06081E-6" "01206" "GLDC_000030" "g.6606599G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6606599G>A" "" "pathogenic" "" "0000117864" "1" "90" "9" "6533081" "6533081" "del" "0" "01206" "GLDC_000388" "g.6533081del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533081del" "" "pathogenic" "" "0000117865" "1" "90" "9" "6536104" "6536104" "subst" "1.62497E-5" "01206" "GLDC_000379" "g.6536104A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536104A>G" "" "pathogenic" "" "0000117866" "1" "90" "9" "6587240" "6587240" "subst" "0" "01206" "GLDC_000234" "g.6587240G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587240G>C" "" "pathogenic" "" "0000117867" "1" "90" "9" "6553403" "6553403" "subst" "0" "01206" "GLDC_000151" "g.6553403T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553403T>G" "" "pathogenic" "" "0000117868" "1" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000117869" "1" "90" "9" "6610191" "6610357" "del" "0" "01206" "GLDC_000330" "g.(6606670_6610191)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117870" "1" "90" "9" "6644693" "6645500" "del" "0" "01206" "GLDC_000006" "g.(6644693_6645244)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117871" "1" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000117872" "1" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "01206" "GLDC_000053" "g.6592870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000117873" "1" "90" "9" "6536122" "6536125" "delins" "0" "01206" "GLDC_000113" "g.6536122_6536125delinsTCTGT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536122_6536125delinsTCTGT" "" "pathogenic" "" "0000117874" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117875" "1" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "01206" "GLDC_000032" "g.6605186G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605186G>A" "" "pathogenic" "" "0000117876" "1" "90" "9" "6620259" "6620259" "subst" "8.12123E-6" "01206" "GLDC_000353" "g.6620259G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620259G>A" "" "pathogenic" "" "0000117877" "1" "90" "9" "6556303" "6645500" "del" "0" "01206" "GLDC_000005" "g.(6556303_6558558)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117878" "1" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "p.Arg337X" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000117879" "1" "90" "9" "6534778" "6534778" "subst" "0" "01206" "GLDC_000374" "g.6534778T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534778T>C" "" "pathogenic" "" "0000117880" "1" "90" "9" "6554673" "6554673" "subst" "0" "01206" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554673C>T" "" "pathogenic" "" "0000117881" "1" "90" "9" "6540132" "6540132" "subst" "0" "01206" "GLDC_000135" "g.6540132C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540132C>T" "" "pathogenic" "" "0000117882" "1" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000117883" "1" "90" "9" "6610357" "6645500" "del" "0" "01206" "GLDC_000008" "g.(6610357_6620183)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117884" "1" "90" "9" "6536224" "6536224" "subst" "4.087E-6" "01206" "GLDC_000368" "g.6536224G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536224G>A" "" "pathogenic" "" "0000117885" "1" "90" "9" "6536059" "6536059" "subst" "0" "01206" "GLDC_000376" "g.6536059C>A" "" "" "" "IVS23+5G>T" "" "Germline" "yes" "" "0" "" "" "g.6536059C>A" "" "pathogenic" "" "0000117886" "1" "90" "9" "6644613" "6644613" "subst" "0" "01206" "GLDC_000358" "g.6644613C>A" "" "" "" "p.IVS2+1G>T" "" "Germline" "yes" "" "0" "" "" "g.6644613C>A" "" "pathogenic" "" "0000117887" "1" "90" "9" "6610281" "6610281" "del" "0" "01206" "GLDC_000337" "g.6610281del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610281del" "" "pathogenic" "" "0000117890" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117896" "1" "90" "9" "6620242" "6620242" "subst" "0" "01206" "GLDC_000351" "g.6620242A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620242A>C" "" "pathogenic" "" "0000117897" "1" "90" "9" "6610233" "6610233" "subst" "0" "01206" "GLDC_000335" "g.6610233A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610233A>T" "" "pathogenic" "" "0000117898" "1" "90" "9" "6610357" "6645500" "del" "0" "01206" "GLDC_000008" "g.(6610357_6620183)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117899" "1" "90" "9" "6602186" "6602186" "subst" "1.21902E-5" "01206" "GLDC_000292" "g.6602186C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602186C>G" "" "pathogenic" "" "0000117900" "1" "90" "9" "6587140" "6602206" "del" "0" "01206" "GLDC_000221" "g.(6565430_6587140)_(6602206_6604587)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117902" "1" "90" "9" "6606670" "6645500" "del" "0" "01206" "GLDC_000331" "g.(6606670_6610191)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117903" "1" "90" "9" "6587140" "6610357" "del" "0" "01206" "GLDC_000223" "g.(6565430_6587140)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117904" "1" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000117905" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117906" "1" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000117907" "1" "90" "9" "6554673" "6554673" "subst" "0" "01206" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554673C>T" "" "pathogenic" "" "0000117908" "1" "90" "9" "6610316" "6610316" "subst" "0" "01206" "GLDC_000342" "g.6610316C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610316C>A" "" "pathogenic" "" "0000117909" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117910" "1" "90" "9" "6536188" "6536188" "subst" "0" "01206" "GLDC_000387" "g.6536188A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>G" "" "pathogenic" "" "0000117911" "1" "90" "9" "6540079" "6540087" "del" "0" "01206" "GLDC_000131" "g.6540079_6540087del" "" "" "" "2631_2639del9" "" "Germline" "yes" "" "0" "" "" "g.6540079_6540087del" "" "pathogenic" "" "0000117912" "1" "90" "9" "6556159" "6556159" "subst" "0" "01206" "GLDC_000060" "g.6556159A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556159A>T" "" "pathogenic" "" "0000117913" "1" "90" "9" "6553417" "6553417" "subst" "4.06101E-6" "01206" "GLDC_000154" "g.6553417G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553417G>A" "" "pathogenic" "" "0000117914" "1" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000117915" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117916" "1" "90" "9" "6592910" "6592910" "subst" "0" "01206" "GLDC_000263" "g.6592910C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592910C>A" "" "pathogenic" "" "0000117917" "1" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000117918" "1" "90" "9" "6534781" "6534781" "subst" "0" "01206" "GLDC_000097" "g.6534781G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534781G>A" "" "pathogenic" "" "0000117919" "1" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117920" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117921" "1" "90" "9" "6587249" "6587249" "subst" "1.62438E-5" "01206" "GLDC_000110" "g.6587249G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587249G>C" "" "pathogenic" "" "0000117922" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117923" "1" "90" "9" "6605141" "6605141" "subst" "4.06111E-6" "01206" "GLDC_000317" "g.6605141T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605141T>G" "" "pathogenic" "" "0000117925" "1" "90" "9" "6587169" "6587169" "subst" "0" "01206" "GLDC_000231" "g.6587169A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587169A>C" "" "pathogenic" "" "0000117928" "1" "90" "9" "6540102" "6540102" "subst" "0" "01206" "GLDC_000133" "g.6540102T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540102T>A" "" "pathogenic" "" "0000117930" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117931" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117933" "1" "90" "9" "6536188" "6536188" "subst" "5.30283E-5" "01206" "GLDC_000095" "g.6536188A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>C" "" "pathogenic" "" "0000117934" "1" "90" "9" "6553370" "6553370" "subst" "0" "01206" "GLDC_000147" "g.6553370T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553370T>C" "" "pathogenic" "" "0000117935" "1" "90" "9" "6595081" "6595081" "subst" "0" "01206" "GLDC_000272" "g.6595081G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595081G>T" "" "pathogenic" "" "0000117936" "1" "90" "9" "6606591" "6606670" "del" "0" "01206" "GLDC_000325" "g.(6605279_6606591)_(6606670_6610191)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117937" "1" "90" "9" "6645372" "6645372" "del" "0" "01206" "GLDC_000365" "g.6645372del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6645372del" "" "pathogenic" "" "0000117938" "1" "90" "9" "6553420" "6553422" "dup" "0" "01206" "GLDC_000156" "g.6553420_6553422dup" "" "" "" "2403_2405dupTGC" "" "Germline" "yes" "" "0" "" "" "g.6553420_6553422dup" "" "pathogenic" "" "0000117939" "1" "90" "9" "6556303" "6645500" "del" "0" "01206" "GLDC_000005" "g.(6556303_6558558)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117940" "1" "90" "9" "6553464" "6553464" "subst" "0" "01206" "GLDC_000159" "g.6553464T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553464T>C" "" "pathogenic" "" "0000117943" "1" "90" "9" "6602122" "6602122" "subst" "4.06108E-6" "01206" "GLDC_000283" "g.6602122A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602122A>G" "" "pathogenic" "" "0000117945" "1" "90" "9" "6620217" "6620217" "subst" "4.06075E-6" "01206" "GLDC_000350" "g.6620217G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620217G>T" "" "pathogenic" "" "0000117947" "1" "90" "9" "6565411" "6565411" "subst" "0" "01206" "GLDC_000214" "g.6565411A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565411A>C" "" "pathogenic" "" "0000117949" "1" "90" "9" "6533016" "6620320" "del" "0" "01206" "GLDC_000401" "g.(?_6533016)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117950" "1" "90" "9" "6645476" "6645476" "subst" "0" "01206" "GLDC_000366" "g.6645476C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6645476C>T" "" "pathogenic" "" "0000117951" "1" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000117953" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117954" "1" "90" "9" "6553403" "6553403" "subst" "0" "01206" "GLDC_000151" "g.6553403T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553403T>G" "" "pathogenic" "" "0000117956" "1" "90" "9" "6553427" "6553446" "del" "0" "01206" "GLDC_000157" "g.6553427_6553446del" "" "" "" "2380-2399del20" "" "Germline" "yes" "" "0" "" "" "g.6553427_6553446del" "" "pathogenic" "" "0000117957" "1" "90" "9" "6620263" "6620263" "subst" "0" "01206" "GLDC_000354" "g.6620263T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620263T>A" "" "pathogenic" "" "0000117959" "1" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000117960" "1" "90" "9" "6588631" "6588631" "subst" "8.14538E-6" "01206" "GLDC_000245" "g.6588631C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588631C>A" "" "pathogenic" "" "0000117961" "1" "90" "9" "6534726" "6534726" "subst" "0" "01206" "GLDC_000398" "g.6534726C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534726C>G" "" "pathogenic" "" "0000117962" "1" "90" "9" "6589193" "6589193" "subst" "0" "01206" "GLDC_000252" "g.6589193A>C" "" "" "" "IVS12+2G>A" "" "Germline" "yes" "" "0" "" "" "g.6589193A>C" "" "pathogenic" "" "0000117963" "1" "90" "9" "6536104" "6536104" "subst" "1.62497E-5" "01206" "GLDC_000379" "g.6536104A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536104A>G" "" "pathogenic" "" "0000117964" "1" "90" "9" "6610345" "6610345" "subst" "0" "01206" "GLDC_000024" "g.6610345T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610345T>C" "" "pathogenic" "" "0000117966" "1" "90" "9" "6554667" "6554667" "subst" "0" "01206" "GLDC_000164" "g.6554667A>C" "" "" "" "IVS19+2T>G" "" "Germline" "yes" "" "0" "" "" "g.6554667A>C" "" "pathogenic" "" "0000117967" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117968" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117969" "1" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000117970" "1" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117971" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117973" "1" "90" "9" "6595092" "6595092" "subst" "0" "01206" "GLDC_000273" "g.6595092A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595092A>T" "" "pathogenic" "" "0000117974" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117975" "1" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117976" "1" "90" "9" "6554673" "6554673" "subst" "0" "01206" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554673C>T" "" "pathogenic" "" "0000117977" "1" "90" "9" "6602156" "6602156" "subst" "4.06141E-6" "01206" "GLDC_000287" "g.6602156G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602156G>T" "" "pathogenic" "" "0000117978" "1" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "01206" "GLDC_000032" "g.6605186G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605186G>A" "" "pathogenic" "" "0000117979" "1" "90" "9" "6534707" "6534707" "subst" "1.63043E-5" "01206" "GLDC_000072" "g.6534707C>T" "" "" "" "IVS24+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6534707C>T" "" "pathogenic" "" "0000117980" "1" "90" "9" "6588617" "6588617" "subst" "0" "01206" "GLDC_000243" "g.6588617C>T" "" "" "" "IVS13+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6588617C>T" "" "pathogenic" "" "0000117981" "1" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000117982" "1" "90" "9" "6604593" "6604593" "del" "0" "01206" "GLDC_000295" "g.6604593del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604593del" "" "pathogenic" "" "0000117983" "1" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000117984" "1" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000117985" "1" "90" "9" "6602119" "6602119" "subst" "8.12288E-6" "01206" "GLDC_000282" "g.6602119C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602119C>T" "" "pathogenic" "" "0000117986" "1" "90" "9" "6620263" "6620263" "subst" "0" "01206" "GLDC_000354" "g.6620263T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620263T>A" "" "pathogenic" "" "0000117987" "1" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000117988" "1" "90" "9" "6610241" "6610248" "del" "0" "01206" "GLDC_000336" "g.6610241_6610248del" "" "" "" "582_589del8" "" "Germline" "yes" "" "0" "" "" "g.6610241_6610248del" "" "pathogenic" "" "0000117989" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000117990" "1" "90" "9" "6565391" "6565391" "subst" "0" "01206" "GLDC_000210" "g.6565391C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565391C>G" "" "pathogenic" "" "0000117991" "1" "90" "9" "6554673" "6554673" "subst" "0" "01206" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554673C>T" "" "pathogenic" "" "0000117992" "1" "90" "9" "6536188" "6536188" "subst" "5.30283E-5" "01206" "GLDC_000095" "g.6536188A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>C" "" "pathogenic" "" "0000117993" "1" "90" "9" "6605247" "6605247" "del" "0" "01206" "GLDC_000323" "g.6605247del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605247del" "" "pathogenic" "" "0000117994" "1" "90" "9" "6554783" "6554783" "subst" "0" "01206" "GLDC_000041" "g.6554783T>C" "" "" "" "IVS18-2A>G" "" "Germline" "yes" "" "0" "" "" "g.6554783T>C" "" "pathogenic" "" "0000117995" "1" "90" "9" "6620188" "6620188" "subst" "0" "01206" "GLDC_000349" "g.6620188C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620188C>G" "" "pathogenic" "" "0000117996" "1" "90" "9" "6536147" "6536147" "subst" "0" "01206" "GLDC_000382" "g.6536147A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536147A>T" "" "pathogenic" "" "0000117997" "1" "90" "9" "6606670" "6645500" "del" "0" "01206" "GLDC_000331" "g.(6606670_6610191)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117998" "1" "90" "9" "6620259" "6620259" "subst" "8.12123E-6" "01206" "GLDC_000353" "g.6620259G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620259G>A" "" "pathogenic" "" "0000117999" "1" "90" "9" "6587253" "6587253" "subst" "0" "01206" "GLDC_000235" "g.6587253G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587253G>C" "" "pathogenic" "" "0000118000" "1" "90" "9" "6540049" "6540049" "subst" "0" "01206" "GLDC_000127" "g.6540049A>G" "" "" "" "IVS22+2T>C" "" "Germline" "yes" "" "0" "" "" "g.6540049A>G" "" "pathogenic" "" "0000118001" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118002" "1" "90" "9" "6536173" "6536173" "subst" "4.07027E-6" "01206" "GLDC_000384" "g.6536173G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536173G>A" "" "pathogenic" "" "0000118003" "1" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118004" "1" "90" "9" "6620250" "6620250" "subst" "0" "01206" "GLDC_000352" "g.6620250C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620250C>T" "" "pathogenic" "" "0000118006" "1" "90" "9" "6565421" "6565421" "subst" "0" "01206" "GLDC_000109" "g.6565421T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565421T>C" "" "pathogenic" "" "0000118007" "1" "90" "9" "6565430" "6565430" "subst" "4.06177E-6" "01206" "GLDC_000219" "g.6565430C>T" "" "" "" "IVS15-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6565430C>T" "" "pathogenic" "" "0000118009" "1" "90" "9" "6604727" "6604727" "subst" "0" "01206" "GLDC_000309" "g.6604727C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604727C>A" "" "pathogenic" "" "0000118010" "1" "90" "9" "6554668" "6554668" "subst" "0" "01206" "GLDC_000165" "g.6554668C>A" "" "" "" "IVS19+1G>T" "" "Germline" "yes" "" "0" "" "" "g.6554668C>A" "" "pathogenic" "" "0000118011" "1" "90" "9" "6588432" "6588432" "subst" "0" "01206" "GLDC_000241" "g.6588432G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588432G>T" "" "pathogenic" "" "0000118013" "1" "90" "9" "6550914" "6550914" "subst" "4.06147E-6" "01206" "GLDC_000145" "g.6550914T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550914T>C" "" "pathogenic" "" "0000118014" "1" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000118015" "1" "90" "9" "6536062" "6536062" "subst" "0" "01206" "GLDC_000377" "g.6536062A>G" "" "" "" "IVS23+2T>C" "" "Germline" "yes" "" "0" "" "" "g.6536062A>G" "" "pathogenic" "" "0000118016" "1" "90" "9" "6556303" "6645500" "del" "0" "01206" "GLDC_000005" "g.(6556303_6558558)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118017" "1" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000118018" "1" "90" "9" "6587151" "6587151" "subst" "0" "01206" "GLDC_000229" "g.6587151G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587151G>A" "" "pathogenic" "" "0000118019" "1" "90" "9" "6565428" "6565428" "subst" "1.2185E-5" "01206" "GLDC_000218" "g.6565428C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565428C>T" "" "pathogenic" "" "0000118021" "1" "90" "9" "6589192" "6589198" "delins" "0" "01206" "GLDC_000251" "g.6589192_6589198delinsCTTGTGTG" "" "" "" "1577_1580+3delACAGGTTinsCACACAAG" "" "Germline" "yes" "" "0" "" "" "g.6589192_6589198delinsCTTGTGTG" "" "pathogenic" "" "0000118022" "1" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118023" "1" "90" "9" "6605145" "6605145" "subst" "4.06108E-6" "01206" "GLDC_000034" "g.6605145C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605145C>G" "" "pathogenic" "" "0000118025" "1" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118026" "1" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118027" "1" "90" "9" "6553449" "6553449" "subst" "0" "01206" "GLDC_000158" "g.6553449C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553449C>G" "" "pathogenic" "" "0000118028" "1" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118029" "1" "90" "9" "6588631" "6588631" "subst" "8.14538E-6" "01206" "GLDC_000245" "g.6588631C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588631C>A" "" "pathogenic" "" "0000118030" "1" "90" "9" "6592225" "6592225" "subst" "0" "01206" "GLDC_000259" "g.6592225T>A" "" "" "" "IVS10-2A>T" "" "Germline" "yes" "" "0" "" "" "g.6592225T>A" "" "pathogenic" "" "0000118031" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118032" "1" "90" "9" "6604785" "6604785" "subst" "0" "01206" "GLDC_000315" "g.6604785C>G" "" "" "" "IVS6-1G>C" "" "Germline" "yes" "" "0" "" "" "g.6604785C>G" "" "pathogenic" "" "0000118033" "1" "90" "9" "6610267" "6610267" "subst" "0" "01206" "GLDC_000027" "g.6610267G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610267G>T" "" "pathogenic" "" "0000118034" "1" "90" "9" "6604667" "6604667" "subst" "0" "01206" "GLDC_000303" "g.6604667C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604667C>A" "" "pathogenic" "" "0000118035" "1" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118036" "1" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118037" "1" "90" "9" "6610322" "6610322" "subst" "0" "01206" "GLDC_000343" "g.6610322A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610322A>G" "" "pathogenic" "" "0000118038" "1" "90" "9" "6606598" "6606598" "subst" "4.06085E-6" "01206" "GLDC_000327" "g.6606598C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6606598C>G" "" "pathogenic" "" "0000118039" "1" "90" "9" "6536224" "6536224" "subst" "4.087E-6" "01206" "GLDC_000368" "g.6536224G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536224G>A" "" "pathogenic" "" "0000118040" "1" "90" "9" "6540102" "6540102" "subst" "0" "01206" "GLDC_000133" "g.6540102T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540102T>A" "" "pathogenic" "" "0000118041" "1" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118042" "1" "90" "9" "6554703" "6554703" "subst" "0.000162969" "01206" "GLDC_000102" "g.6554703C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554703C>T" "" "pathogenic" "" "0000118043" "1" "90" "9" "6556173" "6556173" "subst" "4.06174E-6" "01206" "GLDC_000184" "g.6556173C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556173C>T" "" "pathogenic" "" "0000118044" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118045" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118046" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118047" "1" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118048" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118049" "1" "90" "9" "6558592" "6558592" "subst" "0" "01206" "GLDC_000196" "g.6558592A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558592A>T" "" "pathogenic" "" "0000118050" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118051" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118052" "1" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118053" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118054" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118055" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118056" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118057" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118058" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118059" "1" "90" "9" "6588650" "6588650" "subst" "0" "01206" "GLDC_000247" "g.6588650C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588650C>G" "" "pathogenic" "" "0000118060" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118061" "1" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118062" "1" "90" "9" "6534707" "6534707" "subst" "1.63043E-5" "01206" "GLDC_000072" "g.6534707C>T" "" "" "" "IVS24+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6534707C>T" "" "pathogenic" "" "0000118063" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118064" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118065" "1" "90" "9" "6604730" "6604730" "subst" "0" "01206" "GLDC_000310" "g.6604730C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604730C>A" "" "pathogenic" "" "0000118066" "1" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118067" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118068" "1" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118069" "1" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118070" "1" "90" "9" "6565428" "6565428" "subst" "1.2185E-5" "01206" "GLDC_000218" "g.6565428C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565428C>T" "" "pathogenic" "" "0000118071" "1" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118072" "1" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118073" "1" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118074" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118075" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118076" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118077" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118078" "1" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118079" "1" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118080" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118081" "1" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118082" "1" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118086" "1" "90" "9" "6602167" "6602167" "subst" "0" "01206" "GLDC_000288" "g.6602167T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602167T>C" "" "pathogenic" "" "0000118089" "1" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "01206" "GLDC_000053" "g.6592870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000118090" "1" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000118091" "1" "90" "9" "6610222" "6610222" "subst" "0" "01206" "GLDC_000028" "g.6610222G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610222G>A" "" "pathogenic" "" "0000118092" "1" "90" "9" "6533016" "6565430" "del" "0" "01206" "GLDC_000117" "g.(?_6533016)_(6565430_6587140)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118093" "1" "90" "9" "6610191" "6610357" "del" "0" "01206" "GLDC_000330" "g.(6606670_6610191)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118094" "1" "90" "9" "6556262" "6556262" "subst" "0" "01206" "GLDC_000193" "g.6556262G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556262G>A" "" "pathogenic" "" "0000118095" "1" "90" "9" "6620259" "6620259" "subst" "0" "01206" "GLDC_000019" "g.6620259G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620259G>C" "" "pathogenic" "" "0000118154" "1" "90" "9" "6595100" "6595100" "del" "0" "01206" "GLDC_000276" "g.6595100del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595100del" "" "pathogenic" "" "0000118155" "1" "90" "9" "6645472" "6645472" "del" "0" "01206" "GLDC_000010" "g.6645472del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6645472del" "" "pathogenic" "" "0000118156" "1" "90" "9" "6550883" "6550883" "subst" "1.6243E-5" "01206" "GLDC_000066" "g.6550883G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550883G>A" "" "pathogenic" "" "0000118157" "1" "90" "9" "6553403" "6553403" "del" "0" "01206" "GLDC_000065" "g.6553403del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553403del" "" "pathogenic" "" "0000118158" "1" "90" "9" "6592182" "6592182" "del" "0" "01206" "GLDC_000254" "g.6592182del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592182del" "" "pathogenic" "" "0000118159" "1" "90" "9" "6602179" "6602179" "subst" "0" "01206" "GLDC_000290" "g.6602179C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602179C>G" "" "pathogenic" "" "0000118160" "1" "90" "9" "6556169" "6556169" "del" "0" "01206" "GLDC_000059" "g.6556169del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556169del" "" "pathogenic" "" "0000118161" "1" "90" "9" "6533016" "6610357" "del" "0" "01206" "GLDC_000025" "g.(?_6533016)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118162" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118163" "1" "90" "9" "6556159" "6556159" "subst" "0" "01206" "GLDC_000060" "g.6556159A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556159A>T" "" "pathogenic" "" "0000118164" "1" "90" "9" "6602147" "6602147" "subst" "1.62459E-5" "01206" "GLDC_000049" "g.6602147G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602147G>A" "" "pathogenic" "" "0000118165" "1" "90" "9" "6620197" "6620197" "subst" "0" "01206" "GLDC_000023" "g.6620197C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620197C>A" "" "pathogenic" "" "0000118166" "1" "90" "9" "6534707" "6534707" "subst" "1.63043E-5" "01206" "GLDC_000072" "g.6534707C>T" "" "" "" "IVS24+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6534707C>T" "" "pathogenic" "" "0000118167" "1" "90" "9" "6604591" "6604591" "subst" "0" "01206" "GLDC_000294" "g.6604591G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604591G>C" "" "pathogenic" "" "0000118168" "1" "90" "9" "6592967" "6592970" "dup" "0" "01206" "GLDC_000266" "g.6592967_6592970dup" "" "" "" "1285insCAAC" "" "Germline" "yes" "" "0" "" "" "g.6592967_6592970dup" "" "pathogenic" "" "0000118169" "1" "90" "9" "6592142" "6592224" "del" "0" "01206" "GLDC_000122" "g.(6589293_6592142)_(6592224_6592850)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118170" "1" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118171" "1" "90" "9" "6558680" "6558680" "subst" "0" "01206" "GLDC_000055" "g.6558680C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558680C>A" "" "pathogenic" "" "0000118172" "1" "90" "9" "6610267" "6610267" "subst" "0" "01206" "GLDC_000027" "g.6610267G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610267G>T" "" "pathogenic" "" "0000118173" "1" "90" "9" "6558659" "6558659" "subst" "0" "01206" "GLDC_000056" "g.6558659T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558659T>C" "" "pathogenic" "" "0000118174" "1" "90" "9" "6605141" "6605141" "subst" "4.06111E-6" "01206" "GLDC_000317" "g.6605141T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605141T>G" "" "pathogenic" "" "0000118175" "1" "90" "9" "6534707" "6534707" "subst" "1.63043E-5" "01206" "GLDC_000072" "g.6534707C>T" "" "" "" "IVS24+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6534707C>T" "" "pathogenic" "" "0000118176" "1" "90" "9" "6550883" "6550883" "subst" "1.6243E-5" "01206" "GLDC_000066" "g.6550883G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550883G>A" "" "pathogenic" "" "0000118177" "1" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118178" "1" "90" "9" "6602147" "6602147" "subst" "1.62459E-5" "01206" "GLDC_000049" "g.6602147G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602147G>A" "" "pathogenic" "" "0000118179" "1" "90" "9" "6605130" "6605130" "subst" "0" "01206" "GLDC_000036" "g.6605130C>A" "" "" "" "IVS6+1G>T" "" "Germline" "yes" "" "0" "" "" "g.6605130C>A" "" "pathogenic" "" "0000118180" "1" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118181" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118182" "1" "90" "9" "6610345" "6610345" "subst" "0" "01206" "GLDC_000024" "g.6610345T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610345T>C" "" "pathogenic" "" "0000118183" "1" "90" "9" "6604649" "6604649" "dup" "0" "01206" "GLDC_000299" "g.6604649dup" "" "" "" "1002insT" "" "Germline" "yes" "" "0" "" "" "g.6604649dup" "" "pathogenic" "" "0000118184" "1" "90" "9" "6565359" "6565359" "subst" "0" "01206" "GLDC_000207" "g.6565359T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565359T>A" "" "pathogenic" "" "0000118185" "1" "90" "9" "6565416" "6565416" "subst" "0" "01206" "GLDC_000217" "g.6565416T>A" "" "" "" "" "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" "yes" "" "0" "" "" "g.6565416T>A" "" "pathogenic" "" "0000118186" "1" "90" "9" "6604587" "6604587" "subst" "0" "01206" "GLDC_000293" "g.6604587C>G" "" "" "" "IVS7+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6604587C>G" "" "pathogenic" "" "0000118187" "1" "90" "9" "6592988" "6592988" "subst" "0" "01206" "GLDC_000267" "g.6592988G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592988G>T" "" "pathogenic" "" "0000118188" "1" "90" "9" "6565412" "6565412" "subst" "0" "01206" "GLDC_000216" "g.6565412T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565412T>C" "" "pathogenic" "" "0000118189" "1" "90" "9" "6602147" "6602147" "subst" "1.62459E-5" "01206" "GLDC_000049" "g.6602147G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602147G>A" "" "pathogenic" "" "0000118190" "1" "90" "9" "6556180" "6556180" "del" "0" "01206" "GLDC_000185" "g.6556180del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556180del" "" "pathogenic" "" "0000118191" "1" "90" "9" "6589193" "6589193" "subst" "0" "01206" "GLDC_000253" "g.6589193A>T" "" "" "" "IVS12+2T>A" "" "Germline" "yes" "" "0" "" "" "g.6589193A>T" "" "pathogenic" "" "0000118192" "1" "90" "9" "6554708" "6554708" "subst" "0" "01206" "GLDC_000175" "g.6554708G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554708G>C" "" "pathogenic" "" "0000118193" "1" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118194" "1" "90" "9" "6536180" "6536180" "subst" "0" "01206" "GLDC_000385" "g.6536180T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536180T>G" "" "pathogenic" "" "0000118195" "1" "90" "9" "6556152" "6556303" "del" "0" "01206" "GLDC_000179" "g.(6554782_6556152)_(6556303_6558558)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118196" "1" "90" "9" "6556169" "6556169" "del" "0" "01206" "GLDC_000059" "g.6556169del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556169del" "" "pathogenic" "" "0000118197" "1" "90" "9" "6610335" "6610335" "subst" "0" "01206" "GLDC_000345" "g.6610335G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610335G>C" "" "pathogenic" "" "0000118198" "1" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "01206" "GLDC_000053" "g.6592870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000118199" "1" "90" "9" "6644699" "6644699" "subst" "0" "01206" "GLDC_000360" "g.6644699T>C" "" "" "" "IVS1-7A>G" "" "Germline" "yes" "" "0" "" "" "g.6644699T>C" "" "pathogenic" "" "0000118200" "1" "90" "9" "6605196" "6605196" "subst" "0" "01206" "GLDC_000322" "g.6605196A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605196A>C" "" "pathogenic" "" "0000118201" "1" "90" "9" "6604599" "6604599" "del" "0" "01206" "GLDC_000296" "g.6604599del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604599del" "" "pathogenic" "" "0000118202" "1" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118203" "1" "90" "9" "6588676" "6588676" "subst" "1.21998E-5" "01206" "GLDC_000249" "g.6588676C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588676C>T" "" "pathogenic" "" "0000118204" "1" "90" "9" "6620183" "6620183" "subst" "0" "01206" "GLDC_000347" "g.6620183C>G" "" "" "" "IVS3+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6620183C>G" "" "pathogenic" "" "0000118205" "1" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118206" "1" "90" "9" "6533016" "6645500" "del" "0" "01206" "GLDC_000402" "g.(?_6533016)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118207" "1" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "01206" "GLDC_000032" "g.6605186G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605186G>A" "" "pathogenic" "" "0000118208" "1" "90" "9" "6533100" "6533100" "subst" "0" "01206" "GLDC_000390" "g.6533100C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533100C>T" "" "pathogenic" "" "0000118209" "1" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118210" "1" "90" "9" "6587140" "6595120" "del" "0" "01206" "GLDC_000220" "g.(6565430_6587140)_(6595120_6602108)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118211" "1" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118212" "1" "90" "9" "6540050" "6540050" "subst" "0" "01206" "GLDC_000128" "g.6540050C>A" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>A" "" "pathogenic" "" "0000118213" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118214" "1" "90" "9" "6592846" "6592846" "subst" "0" "01206" "GLDC_000260" "g.6592846C>A" "" "" "" "IVS10+5G>T" "" "Germline" "yes" "" "0" "" "" "g.6592846C>A" "" "pathogenic" "" "0000118215" "1" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118216" "1" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118217" "1" "90" "9" "6558671" "6558671" "subst" "0" "01206" "GLDC_000203" "g.6558671G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558671G>C" "" "pathogenic" "" "0000118218" "1" "90" "9" "6602138" "6602138" "subst" "0" "01206" "GLDC_000284" "g.6602138T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602138T>C" "" "pathogenic" "" "0000118219" "1" "90" "9" "6536130" "6536185" "del" "0" "01206" "GLDC_000381" "g.6536130_6536185del" "" "" "" "2720_2775del56" "" "Germline" "yes" "" "0" "" "" "g.6536130_6536185del" "" "pathogenic" "" "0000118220" "1" "90" "9" "6620183" "6620183" "subst" "0" "01206" "GLDC_000348" "g.6620183C>T" "" "" "" "IVS3+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6620183C>T" "" "pathogenic" "" "0000118221" "1" "90" "9" "6550845" "6550845" "subst" "0" "01206" "GLDC_000139" "g.6550845G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550845G>A" "" "pathogenic" "" "0000118222" "1" "90" "9" "6605279" "6645500" "del" "0" "01206" "GLDC_000326" "g.(6605279_6606591)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118223" "1" "90" "9" "6620183" "6620320" "del" "0" "01206" "GLDC_000346" "g.(6610357_6620183)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118224" "1" "90" "9" "6588629" "6588629" "subst" "0" "01206" "GLDC_000101" "g.6588629T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588629T>C" "" "pathogenic" "" "0000118225" "1" "90" "9" "6536188" "6536188" "subst" "5.30283E-5" "01206" "GLDC_000095" "g.6536188A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>C" "" "pathogenic" "" "0000118226" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118227" "1" "90" "9" "6556159" "6556159" "subst" "0" "01206" "GLDC_000060" "g.6556159A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556159A>T" "" "pathogenic" "" "0000118228" "1" "90" "9" "6606605" "6606605" "subst" "0" "01206" "GLDC_000328" "g.6606605G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6606605G>A" "" "pathogenic" "" "0000118229" "1" "90" "9" "6604735" "6604735" "subst" "0" "01206" "GLDC_000311" "g.6604735G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604735G>A" "" "pathogenic" "" "0000118230" "1" "90" "9" "6604613" "6604613" "subst" "8.12539E-6" "01206" "GLDC_000298" "g.6604613G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604613G>T" "" "pathogenic" "" "0000118231" "1" "90" "9" "6620183" "6620320" "dup" "0" "01206" "GLDC_000346" "g.(6610357_6620183)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118232" "1" "90" "9" "6558623" "6558623" "subst" "0" "01206" "GLDC_000197" "g.6558623A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558623A>T" "" "pathogenic" "" "0000118233" "1" "90" "9" "6604760" "6604760" "subst" "0" "01206" "GLDC_000312" "g.6604760G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604760G>A" "" "pathogenic" "" "0000118234" "1" "90" "9" "6592224" "6645500" "del" "0" "01206" "GLDC_000258" "g.(6592224_6592850)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118235" "1" "90" "9" "6588641" "6588641" "subst" "0" "01206" "GLDC_000246" "g.6588641G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588641G>C" "" "pathogenic" "" "0000118236" "1" "90" "9" "6595092" "6595092" "subst" "0" "01206" "GLDC_000274" "g.6595092A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595092A>G" "" "pathogenic" "" "0000118237" "1" "90" "9" "6602147" "6602147" "subst" "1.62459E-5" "01206" "GLDC_000049" "g.6602147G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602147G>A" "" "pathogenic" "" "0000118238" "1" "90" "9" "6605145" "6605145" "subst" "4.06108E-6" "01206" "GLDC_000034" "g.6605145C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605145C>G" "" "pathogenic" "" "0000118239" "1" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118240" "1" "90" "9" "6602147" "6602147" "subst" "1.62459E-5" "01206" "GLDC_000049" "g.6602147G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602147G>A" "" "pathogenic" "" "0000118241" "1" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "01206" "GLDC_000053" "g.6592870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000118242" "1" "90" "9" "6602147" "6602147" "subst" "1.62459E-5" "01206" "GLDC_000049" "g.6602147G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602147G>A" "" "pathogenic" "" "0000118243" "1" "90" "9" "6587140" "6595120" "del" "0" "01206" "GLDC_000220" "g.(6565430_6587140)_(6595120_6602108)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118244" "1" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118245" "1" "90" "9" "6536236" "6536236" "subst" "0" "01206" "GLDC_000369" "g.6536236C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536236C>A" "" "pathogenic" "" "0000118246" "1" "90" "9" "6534707" "6534707" "subst" "1.63043E-5" "01206" "GLDC_000072" "g.6534707C>T" "" "" "" "IVS24+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6534707C>T" "" "pathogenic" "" "0000118247" "1" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118248" "1" "90" "9" "6604724" "6604724" "del" "0" "01206" "GLDC_000308" "g.6604724del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604724del" "" "pathogenic" "" "0000118249" "1" "90" "9" "6592208" "6592208" "subst" "0" "01206" "GLDC_000255" "g.6592208C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592208C>G" "" "pathogenic" "" "0000118250" "1" "90" "9" "6604660" "6604660" "subst" "0" "01206" "GLDC_000301" "g.6604660G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604660G>A" "" "pathogenic" "" "0000118251" "1" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118252" "1" "90" "9" "6556180" "6556180" "subst" "0" "01206" "GLDC_000186" "g.6556180G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556180G>C" "" "pathogenic" "" "0000118253" "1" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118254" "1" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118255" "1" "90" "9" "6602119" "6602119" "subst" "8.12288E-6" "01206" "GLDC_000282" "g.6602119C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602119C>T" "" "pathogenic" "" "0000118256" "1" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "01206" "GLDC_000032" "g.6605186G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605186G>A" "" "pathogenic" "" "0000118257" "1" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118258" "1" "90" "9" "6550802" "6558685" "del" "0" "01206" "GLDC_000116" "g.(6540147_6550802)_(6558685_6565353)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118259" "1" "90" "9" "6536105" "6536105" "subst" "0" "01206" "GLDC_000380" "g.6536105T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536105T>A" "" "pathogenic" "" "0000118260" "1" "90" "9" "6604677" "6604687" "delins" "0" "01206" "GLDC_000305" "g.6604677_6604687delinsCTCCC" "" "" "" "959_969del5insGGGAG" "" "Germline" "yes" "" "0" "" "" "g.6604677_6604687delinsCTCCC" "" "pathogenic" "" "0000118261" "1" "90" "9" "6605193" "6605193" "subst" "0" "01206" "GLDC_000320" "g.6605193G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605193G>A" "" "pathogenic" "" "0000118262" "1" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000118263" "1" "90" "9" "6604670" "6604670" "subst" "0" "01206" "GLDC_000304" "g.6604670A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604670A>C" "" "pathogenic" "" "0000118264" "1" "90" "9" "6592219" "6592219" "subst" "0" "01206" "GLDC_000257" "g.6592219C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592219C>T" "" "pathogenic" "" "0000118265" "1" "90" "9" "6592877" "6592877" "subst" "0" "01206" "GLDC_000262" "g.6592877C>T" "" "" "" "" "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" "yes" "" "0" "" "" "g.6592877C>T" "" "pathogenic" "" "0000118266" "1" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118267" "1" "90" "9" "6610230" "6610230" "del" "0" "01206" "GLDC_000334" "g.6610230del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610230del" "" "pathogenic" "" "0000118268" "1" "90" "9" "6610222" "6610222" "subst" "0" "01206" "GLDC_000028" "g.6610222G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610222G>A" "" "pathogenic" "" "0000118269" "1" "90" "9" "6553496" "6553496" "subst" "0" "01206" "GLDC_000160" "g.6553496C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553496C>G" "" "pathogenic" "" "0000118270" "1" "90" "9" "6534703" "6534703" "subst" "0" "01206" "GLDC_000396" "g.6534703C>G" "" "" "" "IVS24+5G>T" "" "Germline" "yes" "" "0" "" "" "g.6534703C>G" "" "pathogenic" "" "0000118271" "1" "90" "9" "6533117" "6533117" "subst" "1.21848E-5" "01206" "GLDC_000391" "g.6533117C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533117C>T" "" "pathogenic" "" "0000118272" "1" "90" "9" "6556262" "6556262" "subst" "0" "01206" "GLDC_000193" "g.6556262G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556262G>A" "" "pathogenic" "" "0000118273" "1" "90" "9" "6536063" "6536063" "subst" "4.06749E-6" "01206" "GLDC_000378" "g.6536063C>T" "" "" "" "IVS23+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6536063C>T" "" "pathogenic" "" "0000118274" "1" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "01206" "GLDC_000032" "g.6605186G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605186G>A" "" "pathogenic" "" "0000118275" "1" "90" "9" "6604662" "6604662" "dup" "0" "01206" "GLDC_000302" "g.6604662dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604662dup" "" "pathogenic" "" "0000118276" "1" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118277" "1" "90" "9" "6587249" "6587249" "subst" "1.62438E-5" "01206" "GLDC_000110" "g.6587249G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587249G>C" "" "pathogenic" "" "0000118278" "1" "90" "9" "6604724" "6604724" "del" "0" "01206" "GLDC_000308" "g.6604724del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604724del" "" "pathogenic" "" "0000118279" "1" "90" "9" "6556244" "6556244" "subst" "0" "01206" "GLDC_000192" "g.6556244C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556244C>A" "" "pathogenic" "" "0000118281" "1" "90" "9" "6540046" "6540046" "subst" "0" "01206" "GLDC_000126" "g.6540046C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540046C>T" "" "pathogenic" "" "0000118282" "1" "90" "9" "6587249" "6587249" "subst" "1.62438E-5" "01206" "GLDC_000110" "g.6587249G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587249G>C" "" "pathogenic" "" "0000118284" "1" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118286" "1" "90" "9" "6645497" "6645497" "subst" "0" "01206" "GLDC_000367" "g.6645497C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6645497C>A" "" "pathogenic" "" "0000118287" "1" "90" "9" "6605193" "6605193" "subst" "0" "01206" "GLDC_000321" "g.6605193G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605193G>C" "" "pathogenic" "" "0000118288" "1" "90" "9" "6533100" "6533100" "subst" "0" "01206" "GLDC_000390" "g.6533100C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533100C>T" "" "pathogenic" "" "0000118289" "1" "90" "9" "6602147" "6602147" "subst" "1.62459E-5" "01206" "GLDC_000049" "g.6602147G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602147G>A" "" "pathogenic" "" "0000118291" "1" "90" "9" "6536104" "6536104" "subst" "1.62497E-5" "01206" "GLDC_000379" "g.6536104A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536104A>G" "" "pathogenic" "" "0000118292" "1" "90" "9" "6602180" "6602180" "subst" "4.06339E-6" "01206" "GLDC_000291" "g.6602180G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602180G>A" "" "pathogenic" "" "0000118293" "1" "90" "9" "6565409" "6565409" "subst" "0" "01206" "GLDC_000213" "g.6565409G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565409G>T" "" "pathogenic" "" "0000118294" "1" "90" "9" "6587284" "6645500" "del" "0" "01206" "GLDC_000238" "g.(6587284_6588400)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118295" "1" "90" "9" "6587253" "6587253" "subst" "0" "01206" "GLDC_000236" "g.6587253G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587253G>A" "" "pathogenic" "" "0000118296" "1" "90" "9" "6588442" "6588442" "subst" "0" "01206" "GLDC_000242" "g.6588442C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588442C>A" "" "pathogenic" "" "0000118297" "1" "90" "9" "6554696" "6554696" "subst" "0" "01206" "GLDC_000170" "g.6554696C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554696C>T" "" "pathogenic" "" "0000118298" "1" "90" "9" "6610309" "6610309" "subst" "0" "01206" "GLDC_000341" "g.6610309A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610309A>G" "" "pathogenic" "" "0000118299" "1" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118300" "1" "90" "9" "6540120" "6540120" "subst" "0" "01206" "GLDC_000134" "g.6540120C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540120C>G" "" "pathogenic" "" "0000118301" "1" "90" "9" "6550845" "6550845" "subst" "0" "01206" "GLDC_000139" "g.6550845G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550845G>A" "" "pathogenic" "" "0000118302" "2" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000118303" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118304" "2" "90" "9" "6606670" "6606670" "subst" "0" "01206" "GLDC_000329" "g.6606670C>G" "" "" "" "IVS4-1G>C" "" "Germline" "yes" "" "0" "" "" "g.6606670C>G" "" "pathogenic" "" "0000118305" "2" "90" "9" "6595013" "6595120" "del" "0" "01206" "GLDC_000075" "g.(6592991_6595013)_(6595120_6602108)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118306" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118307" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118308" "2" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118309" "2" "90" "9" "6644695" "6644695" "subst" "0" "01206" "GLDC_000359" "g.6644695A>C" "" "" "" "IVS1-3T>G" "" "Germline" "yes" "" "0" "" "" "g.6644695A>C" "" "pathogenic" "" "0000118310" "2" "90" "9" "6534775" "6534775" "subst" "0.000329349" "01206" "GLDC_000373" "g.6534775G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534775G>T" "" "pathogenic" "" "0000118311" "2" "90" "9" "6558685" "6645500" "del" "0" "01206" "GLDC_000004" "g.(6558685_6565353)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118312" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118313" "2" "90" "9" "6550883" "6550883" "subst" "0" "01206" "GLDC_000143" "g.6550883G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550883G>T" "" "pathogenic" "" "0000118314" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118315" "2" "90" "9" "6592182" "6592182" "dup" "0" "01206" "GLDC_000076" "g.6592182dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592182dup" "" "pathogenic" "" "0000118316" "2" "90" "9" "6602119" "6602119" "subst" "8.12288E-6" "01206" "GLDC_000282" "g.6602119C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602119C>T" "" "pathogenic" "" "0000118317" "2" "90" "9" "6533016" "6565430" "del" "0" "01206" "GLDC_000117" "g.(?_6533016)_(6565430_6587140)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118318" "2" "90" "9" "6644613" "6644613" "subst" "0" "01206" "GLDC_000358" "g.6644613C>A" "" "" "" "IVS2+1G>T" "" "Germline" "yes" "" "0" "" "" "g.6644613C>A" "" "pathogenic" "" "0000118319" "2" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118320" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118321" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118324" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118325" "2" "90" "9" "6534786" "6534786" "subst" "4.06878E-6" "01206" "GLDC_000375" "g.6534786C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534786C>T" "" "pathogenic" "" "0000118326" "2" "90" "9" "6556303" "6645500" "del" "0" "01206" "GLDC_000005" "g.(6556303_6558558)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118327" "2" "90" "9" "6534728" "6534728" "subst" "0" "01206" "GLDC_000399" "g.6534728C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534728C>A" "" "pathogenic" "" "0000118328" "2" "90" "9" "6565392" "6565392" "subst" "4.06147E-6" "01206" "GLDC_000211" "g.6565392G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565392G>A" "" "pathogenic" "" "0000118329" "2" "90" "9" "6610219" "6610219" "subst" "0" "01206" "GLDC_000333" "g.6610219G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610219G>A" "" "pathogenic" "" "0000118330" "2" "90" "9" "6587140" "6620320" "dup" "0" "01206" "GLDC_000224" "g.(6565430_6587140)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118331" "2" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118332" "2" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000118333" "2" "90" "9" "6588631" "6588631" "subst" "8.14538E-6" "01206" "GLDC_000245" "g.6588631C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588631C>A" "" "pathogenic" "" "0000118334" "2" "90" "9" "6554687" "6554687" "subst" "0" "01206" "GLDC_000169" "g.6554687C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554687C>A" "" "pathogenic" "" "0000118335" "2" "90" "9" "6588423" "6588423" "subst" "0" "01206" "GLDC_000239" "g.6588423A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588423A>G" "" "pathogenic" "" "0000118336" "2" "90" "9" "6540050" "6540050" "subst" "0" "01206" "GLDC_000128" "g.6540050C>A" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>A" "" "pathogenic" "" "0000118337" "2" "90" "9" "6534742" "6534742" "subst" "0" "01206" "GLDC_000370" "g.6534742C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534742C>G" "" "pathogenic" "" "0000118338" "2" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118339" "2" "90" "9" "6588677" "6588677" "subst" "4.06669E-6" "01206" "GLDC_000250" "g.6588677G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588677G>A" "" "pathogenic" "" "0000118340" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118341" "2" "90" "9" "6595095" "6595095" "del" "0" "01206" "GLDC_000275" "g.6595095del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595095del" "" "pathogenic" "" "0000118342" "2" "90" "9" "6534703" "6534703" "subst" "4.0784E-6" "01206" "GLDC_000395" "g.6534703C>A" "" "" "" "IVS24+5G>T" "" "Germline" "yes" "" "0" "" "" "g.6534703C>A" "" "pathogenic" "" "0000118343" "2" "90" "9" "6595013" "6620320" "del" "0" "01206" "GLDC_000014" "g.(6592991_6595013)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118344" "2" "90" "9" "6565394" "6565394" "subst" "0" "01206" "GLDC_000212" "g.6565394A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565394A>G" "" "pathogenic" "" "0000118345" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118347" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118349" "2" "90" "9" "6565384" "6565384" "subst" "0" "01206" "GLDC_000208" "g.6565384G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565384G>C" "" "pathogenic" "" "0000118350" "2" "90" "9" "6533118" "6533118" "subst" "0" "01206" "GLDC_000392" "g.6533118G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533118G>A" "" "pathogenic" "" "0000118351" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118352" "2" "90" "9" "6606599" "6606599" "subst" "4.06081E-6" "01206" "GLDC_000030" "g.6606599G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6606599G>A" "" "pathogenic" "" "0000118353" "2" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "01206" "GLDC_000032" "g.6605186G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605186G>A" "" "pathogenic" "" "0000118354" "2" "90" "9" "6554703" "6554703" "subst" "0.000162969" "01206" "GLDC_000102" "g.6554703C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554703C>T" "" "pathogenic" "" "0000118355" "2" "90" "9" "6536147" "6536147" "subst" "0" "01206" "GLDC_000382" "g.6536147A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536147A>T" "" "pathogenic" "" "0000118356" "2" "90" "9" "6602168" "6602168" "subst" "4.06207E-6" "01206" "GLDC_000289" "g.6602168G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602168G>A" "" "pathogenic" "" "0000118357" "2" "90" "9" "6588672" "6588672" "subst" "0" "01206" "GLDC_000248" "g.6588672G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588672G>T" "" "pathogenic" "" "0000118358" "2" "90" "9" "6556303" "6645500" "del" "0" "01206" "GLDC_000005" "g.(6556303_6558558)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118359" "2" "90" "9" "6554705" "6554705" "subst" "0" "01206" "GLDC_000173" "g.6554705T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554705T>C" "" "pathogenic" "" "0000118360" "2" "90" "9" "6536188" "6536188" "subst" "5.30283E-5" "01206" "GLDC_000095" "g.6536188A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>C" "" "pathogenic" "" "0000118361" "2" "90" "9" "6558653" "6558653" "del" "0" "01206" "GLDC_000201" "g.6558653del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558653del" "" "pathogenic" "" "0000118362" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118365" "2" "90" "9" "6602116" "6602116" "subst" "4.06147E-6" "01206" "GLDC_000281" "g.6602116G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602116G>A" "" "pathogenic" "" "0000118366" "2" "90" "9" "6550802" "6565430" "del" "0" "01206" "GLDC_000118" "g.(6540147_6550802)_(6565430_6587140)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118367" "2" "90" "9" "6595013" "6620320" "del" "0" "01206" "GLDC_000014" "g.(6592991_6595013)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118368" "2" "90" "9" "6592935" "6592935" "subst" "4.06161E-6" "01206" "GLDC_000264" "g.6592935C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592935C>A" "" "pathogenic" "" "0000118369" "2" "90" "9" "6645255" "6645255" "subst" "0" "01206" "GLDC_000362" "g.6645255A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6645255A>G" "" "pathogenic" "" "0000118370" "2" "90" "9" "6595013" "6610357" "del" "0" "01206" "GLDC_000269" "g.(6592991_6595013)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118371" "2" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000118372" "2" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "01206" "GLDC_000053" "g.6592870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000118373" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118374" "2" "90" "9" "6550874" "6550874" "subst" "8.1213E-6" "01206" "GLDC_000142" "g.6550874G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550874G>A" "" "pathogenic" "" "0000118375" "2" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000118376" "2" "90" "9" "6620272" "6620272" "subst" "0" "01206" "GLDC_000355" "g.6620272G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620272G>A" "" "pathogenic" "" "0000118379" "2" "90" "9" "6554703" "6554703" "subst" "0" "01206" "GLDC_000172" "g.6554703C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554703C>G" "" "pathogenic" "" "0000118380" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118381" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118382" "2" "90" "9" "6540062" "6540062" "subst" "4.06167E-6" "01206" "GLDC_000130" "g.6540062A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540062A>G" "" "pathogenic" "" "0000118383" "2" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118386" "2" "90" "9" "6606670" "6645500" "del" "0" "01206" "GLDC_000331" "g.(6606670_6610191)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118387" "2" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118388" "2" "90" "9" "6553410" "6553410" "subst" "0" "01206" "GLDC_000153" "g.6553410C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553410C>T" "" "pathogenic" "" "0000118389" "2" "90" "9" "6620259" "6620259" "subst" "8.12123E-6" "01206" "GLDC_000353" "g.6620259G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620259G>A" "" "pathogenic" "" "0000118390" "2" "90" "9" "6553402" "6553402" "subst" "4.06121E-6" "01206" "GLDC_000150" "g.6553402C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553402C>A" "" "pathogenic" "" "0000118392" "2" "90" "9" "6558577" "6558579" "del" "0" "01206" "GLDC_000195" "g.6558577_6558579del" "" "" "" "2032-2034delCAG" "" "Germline" "yes" "" "0" "" "" "g.6558577_6558579del" "" "pathogenic" "" "0000118394" "2" "90" "9" "6554673" "6554673" "subst" "0" "01206" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554673C>T" "" "pathogenic" "" "0000118396" "2" "90" "9" "6620259" "6620259" "subst" "8.12123E-6" "01206" "GLDC_000353" "g.6620259G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620259G>A" "" "pathogenic" "" "0000118398" "2" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118399" "2" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118400" "2" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000118401" "2" "90" "9" "6540132" "6540132" "subst" "0" "01206" "GLDC_000135" "g.6540132C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540132C>T" "" "pathogenic" "" "0000118402" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118403" "2" "90" "9" "6565353" "6565430" "del" "0" "01206" "GLDC_000204" "g.(6558685_6565353)_(6565430_6587140)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118404" "2" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118405" "2" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118406" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118407" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118409" "2" "90" "9" "6565430" "6565430" "subst" "4.06177E-6" "01206" "GLDC_000219" "g.6565430C>T" "" "" "" "IVS15-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6565430C>T" "" "pathogenic" "" "0000118410" "2" "90" "9" "6604774" "6604774" "subst" "0" "01206" "GLDC_000313" "g.6604774C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604774C>T" "" "pathogenic" "" "0000118411" "2" "90" "9" "6536059" "6536059" "subst" "4.0701E-6" "01206" "GLDC_000069" "g.6536059C>T" "" "" "" "IVS23+5G>A" "" "Germline" "yes" "" "0" "" "" "g.6536059C>T" "" "pathogenic" "" "0000118412" "2" "90" "9" "6540050" "6540050" "subst" "0" "01206" "GLDC_000129" "g.6540050C>T" "" "" "" "p.IVS22+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6540050C>T" "" "pathogenic" "" "0000118413" "2" "90" "9" "6589195" "6589199" "delins" "0" "01206" "GLDC_000124" "g.6589195_6589199delinsTTGTGTTG" "" "" "" "[1576insC; 1580delGinsCAA]" "" "Germline" "yes" "" "0" "" "" "g.6589195_6589199delinsTTGTGTTG" "" "pathogenic" "" "0000118414" "2" "90" "9" "6556169" "6556169" "del" "0" "01206" "GLDC_000059" "g.6556169del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556169del" "" "pathogenic" "" "0000118415" "2" "90" "9" "6553409" "6553409" "subst" "0" "01206" "GLDC_000152" "g.6553409C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553409C>G" "" "pathogenic" "" "0000118416" "2" "90" "9" "6556157" "6556157" "subst" "0" "01206" "GLDC_000181" "g.6556157G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556157G>A" "" "pathogenic" "" "0000118417" "2" "90" "9" "6610191" "6610357" "del" "0" "01206" "GLDC_000330" "g.(6606670_6610191)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118418" "2" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000118419" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118422" "2" "90" "9" "6565428" "6565428" "subst" "1.2185E-5" "01206" "GLDC_000218" "g.6565428C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565428C>T" "" "pathogenic" "" "0000118423" "2" "90" "9" "6592871" "6592871" "subst" "8.12315E-6" "01206" "GLDC_000261" "g.6592871G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592871G>A" "" "pathogenic" "" "0000118426" "2" "90" "9" "6536182" "6536182" "subst" "0" "01206" "GLDC_000386" "g.6536182G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536182G>A" "" "pathogenic" "" "0000118427" "2" "90" "9" "6604646" "6604646" "subst" "0.000320893" "01206" "GLDC_000300" "g.6604646A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604646A>G" "" "pathogenic" "" "0000118428" "2" "90" "9" "6606670" "6645500" "del" "0" "01206" "GLDC_000331" "g.(6606670_6610191)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118429" "2" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118430" "2" "90" "9" "6602146" "6602146" "subst" "0" "01206" "GLDC_000285" "g.6602146C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602146C>T" "" "pathogenic" "" "0000118431" "2" "90" "9" "6565413" "6565414" "dup" "0" "01206" "GLDC_000215" "g.6565413_6565414dup" "" "" "" "1869insAT" "" "Germline" "yes" "" "0" "" "" "g.6565413_6565414dup" "" "pathogenic" "" "0000118432" "2" "90" "9" "6550802" "6592991" "del" "0" "01206" "GLDC_000121" "g.(6540147_6550802)_(6592991_6595013)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118433" "2" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118434" "2" "90" "9" "6605181" "6605181" "subst" "0" "01206" "GLDC_000318" "g.6605181C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605181C>T" "" "pathogenic" "" "0000118435" "2" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118436" "2" "90" "9" "6604694" "6604694" "subst" "0" "01206" "GLDC_000306" "g.6604694G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604694G>C" "" "pathogenic" "" "0000118437" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118438" "2" "90" "9" "6553375" "6553375" "subst" "0" "01206" "GLDC_000148" "g.6553375T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553375T>C" "" "pathogenic" "" "0000118439" "2" "90" "9" "6550845" "6550845" "subst" "0" "01206" "GLDC_000139" "g.6550845G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550845G>A" "" "pathogenic" "" "0000118440" "2" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "01206" "GLDC_000053" "g.6592870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000118441" "2" "90" "9" "6587140" "6610357" "del" "0" "01206" "GLDC_000223" "g.(6565430_6587140)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118442" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118443" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118444" "2" "90" "9" "6592935" "6592935" "subst" "4.06161E-6" "01206" "GLDC_000264" "g.6592935C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592935C>A" "" "pathogenic" "" "0000118445" "2" "90" "9" "6610357" "6645500" "del" "0" "01206" "GLDC_000008" "g.(6610357_6620183)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118446" "2" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000118447" "2" "90" "9" "6534778" "6534778" "subst" "0" "01206" "GLDC_000374" "g.6534778T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534778T>C" "" "pathogenic" "" "0000118448" "2" "90" "9" "6553501" "6553501" "subst" "0" "01206" "GLDC_000161" "g.6553501T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553501T>G" "" "pathogenic" "" "0000118449" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118450" "2" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000118451" "2" "90" "9" "6588631" "6588631" "subst" "8.14538E-6" "01206" "GLDC_000245" "g.6588631C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588631C>A" "" "pathogenic" "" "0000118452" "2" "90" "9" "6533097" "6533097" "subst" "0" "01206" "GLDC_000389" "g.6533097C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533097C>T" "" "pathogenic" "" "0000118453" "2" "90" "9" "6610302" "6610302" "del" "0" "01206" "GLDC_000340" "g.6610302del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610302del" "" "pathogenic" "" "0000118454" "2" "90" "9" "6554748" "6554748" "subst" "0" "01206" "GLDC_000178" "g.6554748C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554748C>G" "" "pathogenic" "" "0000118455" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118458" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118464" "2" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000118465" "2" "90" "9" "6610191" "6610357" "del" "0" "01206" "GLDC_000330" "g.(6606670_6610191)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118466" "2" "90" "9" "6610357" "6645500" "del" "0" "01206" "GLDC_000008" "g.(6610357_6620183)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118467" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118468" "2" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118470" "2" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000118471" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118472" "2" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000118473" "2" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000118474" "2" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000118475" "2" "90" "9" "6536173" "6536173" "subst" "4.07027E-6" "01206" "GLDC_000384" "g.6536173G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536173G>A" "" "pathogenic" "" "0000118476" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118477" "2" "90" "9" "6536188" "6536188" "subst" "0" "01206" "GLDC_000387" "g.6536188A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>G" "" "pathogenic" "" "0000118478" "2" "90" "9" "6550802" "6595120" "del" "0" "01206" "GLDC_000137" "g.(6540147_6550802)_(6595120_6602108)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118479" "2" "90" "9" "6604735" "6604735" "subst" "0" "01206" "GLDC_000311" "g.6604735G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604735G>A" "" "pathogenic" "" "0000118480" "2" "90" "9" "6645264" "6645264" "subst" "0" "01206" "GLDC_000363" "g.6645264A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6645264A>G" "" "pathogenic" "" "0000118481" "2" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000118482" "2" "90" "9" "6536151" "6536151" "subst" "0" "01206" "GLDC_000383" "g.6536151G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536151G>T" "" "pathogenic" "" "0000118483" "2" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118484" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118485" "2" "90" "9" "6534781" "6534781" "subst" "0" "01206" "GLDC_000097" "g.6534781G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534781G>A" "" "pathogenic" "" "0000118486" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118487" "2" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118488" "2" "90" "9" "6587157" "6587157" "del" "0" "01206" "GLDC_000230" "g.6587157del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587157del" "" "pathogenic" "" "0000118490" "2" "90" "9" "6605145" "6605145" "subst" "4.06108E-6" "01206" "GLDC_000034" "g.6605145C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605145C>G" "" "pathogenic" "" "0000118493" "2" "90" "9" "6604735" "6604735" "subst" "0" "01206" "GLDC_000311" "g.6604735G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604735G>A" "" "pathogenic" "" "0000118496" "2" "90" "9" "6536188" "6536188" "subst" "0" "01206" "GLDC_000387" "g.6536188A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>G" "" "pathogenic" "" "0000118497" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118499" "2" "90" "9" "6556172" "6556172" "subst" "0" "01206" "GLDC_000183" "g.6556172C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556172C>T" "" "pathogenic" "" "0000118500" "2" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118501" "2" "90" "9" "6595081" "6595081" "subst" "0" "01206" "GLDC_000272" "g.6595081G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595081G>T" "" "pathogenic" "" "0000118502" "2" "90" "9" "6606591" "6606670" "del" "0" "01206" "GLDC_000325" "g.(6605279_6606591)_(6606670_6610191)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118503" "2" "90" "9" "6534707" "6534707" "subst" "0" "01206" "GLDC_000397" "g.6534707C>G" "" "" "" "IVS24+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6534707C>G" "" "pathogenic" "" "0000118504" "2" "90" "9" "6589193" "6589193" "subst" "0" "01206" "GLDC_000252" "g.6589193A>C" "" "" "" "IVS12+2T>G" "" "Germline" "yes" "" "0" "" "" "g.6589193A>C" "" "pathogenic" "" "0000118505" "2" "90" "9" "6602108" "6606670" "del" "0" "01206" "GLDC_000022" "g.(6595120_6602108)_(6606670_6610191)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118506" "2" "90" "9" "6533117" "6533117" "subst" "1.21848E-5" "01206" "GLDC_000391" "g.6533117C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533117C>T" "" "pathogenic" "" "0000118509" "2" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "01206" "GLDC_000053" "g.6592870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000118511" "2" "90" "9" "6604775" "6604775" "subst" "0" "01206" "GLDC_000314" "g.6604775A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604775A>G" "" "pathogenic" "" "0000118513" "2" "90" "9" "6644693" "6645500" "del" "0" "01206" "GLDC_000006" "g.(6644693_6645244)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118515" "2" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118516" "2" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118517" "2" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118519" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118520" "2" "90" "9" "6610289" "6610289" "subst" "8.12889E-6" "01206" "GLDC_000338" "g.6610289G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610289G>A" "" "pathogenic" "" "0000118522" "2" "90" "9" "6620263" "6620263" "subst" "0" "01206" "GLDC_000354" "g.6620263T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620263T>A" "" "pathogenic" "" "0000118523" "2" "90" "9" "6620259" "6620259" "subst" "8.12123E-6" "01206" "GLDC_000353" "g.6620259G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620259G>A" "" "pathogenic" "" "0000118524" "2" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000118525" "2" "90" "9" "6534726" "6534726" "subst" "0" "01206" "GLDC_000398" "g.6534726C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534726C>G" "" "pathogenic" "" "0000118526" "2" "90" "9" "6604593" "6604593" "del" "0" "01206" "GLDC_000295" "g.6604593del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604593del" "" "pathogenic" "" "0000118527" "2" "90" "9" "6595019" "6595019" "subst" "0" "01206" "GLDC_000270" "g.6595019G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595019G>C" "" "pathogenic" "" "0000118528" "2" "90" "9" "6604605" "6604605" "subst" "0" "01206" "GLDC_000297" "g.6604605T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604605T>G" "" "pathogenic" "" "0000118530" "2" "90" "9" "6553420" "6553420" "subst" "0" "01206" "GLDC_000155" "g.6553420G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>T" "" "pathogenic" "" "0000118531" "2" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118532" "2" "90" "9" "6536237" "6645500" "del" "0" "01206" "GLDC_000125" "g.(6536237_6540050)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118533" "2" "90" "9" "6644613" "6644693" "del" "0" "01206" "GLDC_000356" "g.(6620320_6644613)_(6644693_6645244)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118534" "2" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118535" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118537" "2" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "01206" "GLDC_000053" "g.6592870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000118538" "2" "90" "9" "6602108" "6602206" "del" "0" "01206" "GLDC_000278" "g.(6595120_6602108)_(6602206_6604587)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118539" "2" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118540" "2" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000118541" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118542" "2" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "01206" "GLDC_000032" "g.6605186G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605186G>A" "" "pathogenic" "" "0000118543" "2" "90" "9" "6558685" "6645500" "del" "0" "01206" "GLDC_000004" "g.(6558685_6565353)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118544" "2" "90" "9" "6588617" "6588617" "subst" "0" "01206" "GLDC_000243" "g.6588617C>T" "" "" "" "IVS13+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6588617C>T" "" "pathogenic" "" "0000118545" "2" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000118546" "2" "90" "9" "0" "0" "" "0" "01206" "GLDC_000000" "g.?" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118547" "2" "90" "9" "6540132" "6540132" "subst" "0" "01206" "GLDC_000135" "g.6540132C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540132C>T" "" "pathogenic" "" "0000118548" "2" "90" "9" "6645242" "6645242" "subst" "0" "01206" "GLDC_000361" "g.6645242T>A" "" "" "" "IVS1+3A>T" "" "Germline" "yes" "" "0" "" "" "g.6645242T>A" "" "pathogenic" "" "0000118549" "2" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000118550" "2" "90" "9" "6620263" "6620263" "subst" "0" "01206" "GLDC_000354" "g.6620263T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620263T>A" "" "pathogenic" "" "0000118551" "2" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118552" "2" "90" "9" "6556172" "6556172" "subst" "0" "01206" "GLDC_000183" "g.6556172C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556172C>T" "" "pathogenic" "" "0000118553" "2" "90" "9" "6556191" "6556191" "subst" "0" "01206" "GLDC_000187" "g.6556191C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556191C>T" "" "pathogenic" "" "0000118554" "2" "90" "9" "6588641" "6588641" "subst" "0" "01206" "GLDC_000246" "g.6588641G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588641G>C" "" "pathogenic" "" "0000118555" "2" "90" "9" "6554673" "6554673" "subst" "0" "01206" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554673C>T" "" "pathogenic" "" "0000118556" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118557" "2" "90" "9" "6605247" "6605247" "del" "0" "01206" "GLDC_000323" "g.6605247del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605247del" "" "pathogenic" "" "0000118558" "2" "90" "9" "6610281" "6610281" "del" "0" "01206" "GLDC_000337" "g.6610281del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610281del" "" "pathogenic" "" "0000118559" "2" "90" "9" "6556172" "6556172" "subst" "0" "01206" "GLDC_000183" "g.6556172C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556172C>T" "" "pathogenic" "" "0000118560" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118561" "2" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000118562" "2" "90" "9" "6550890" "6550893" "del" "0" "01206" "GLDC_000144" "g.6550890_6550893del" "" "" "" "2481_2484delACAA" "" "Germline" "yes" "" "0" "" "" "g.6550890_6550893del" "" "pathogenic" "" "0000118563" "2" "90" "9" "6587147" "6587147" "subst" "0" "01206" "GLDC_000228" "g.6587147G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587147G>A" "" "pathogenic" "" "0000118564" "2" "90" "9" "6602108" "6602206" "del" "0" "01206" "GLDC_000278" "g.(6595120_6602108)_(6602206_6604587)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118565" "2" "90" "9" "6558641" "6558641" "subst" "4.06141E-6" "01206" "GLDC_000199" "g.6558641C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558641C>T" "" "pathogenic" "" "0000118566" "2" "90" "9" "6556157" "6556157" "subst" "0" "01206" "GLDC_000182" "g.6556157G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556157G>T" "" "pathogenic" "" "0000118567" "2" "90" "9" "6554717" "6554719" "del" "0" "01206" "GLDC_000176" "g.6554717_6554719del" "" "" "" "2267_2269delTCT" "" "Germline" "yes" "" "0" "" "" "g.6554717_6554719del" "" "pathogenic" "" "0000118569" "2" "90" "9" "6595013" "6620320" "del" "0" "01206" "GLDC_000014" "g.(6592991_6595013)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118570" "2" "90" "9" "6533118" "6533118" "subst" "0" "01206" "GLDC_000392" "g.6533118G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533118G>A" "" "pathogenic" "" "0000118572" "2" "90" "9" "6604727" "6604727" "subst" "0" "01206" "GLDC_000309" "g.6604727C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604727C>A" "" "pathogenic" "" "0000118573" "2" "90" "9" "6536224" "6536224" "subst" "4.087E-6" "01206" "GLDC_000368" "g.6536224G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536224G>A" "" "pathogenic" "" "0000118574" "2" "90" "9" "6592142" "6592991" "del" "0" "01206" "GLDC_000120" "g.(6589293_6592142)_(6592991_6595013)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118576" "2" "90" "9" "6587268" "6587268" "subst" "0" "01206" "GLDC_000237" "g.6587268C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587268C>A" "" "pathogenic" "" "0000118577" "2" "90" "9" "6556269" "6556269" "del" "0" "01206" "GLDC_000194" "g.6556269del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556269del" "" "pathogenic" "" "0000118578" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118579" "2" "90" "9" "6540050" "6540050" "subst" "1.62483E-5" "01206" "GLDC_000094" "g.6540050C>G" "" "" "" "IVS22+1G>C" "" "Germline" "yes" "" "0" "" "" "g.6540050C>G" "" "pathogenic" "" "0000118580" "2" "90" "9" "6536188" "6536188" "subst" "5.30283E-5" "01206" "GLDC_000095" "g.6536188A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>C" "" "pathogenic" "" "0000118581" "2" "90" "9" "6554746" "6554746" "subst" "0" "01206" "GLDC_000177" "g.6554746A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554746A>T" "" "pathogenic" "" "0000118582" "2" "90" "9" "6565428" "6565428" "subst" "1.2185E-5" "01206" "GLDC_000218" "g.6565428C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565428C>T" "" "pathogenic" "" "0000118584" "2" "90" "9" "6587140" "6606670" "del" "0" "01206" "GLDC_000222" "g.(6565430_6587140)_(6606670_6610191)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118585" "2" "90" "9" "6553508" "6553508" "subst" "4.08257E-6" "01206" "GLDC_000162" "g.6553508T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553508T>A" "" "pathogenic" "" "0000118586" "2" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118588" "2" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118589" "2" "90" "9" "6550802" "6620320" "del" "0" "01206" "GLDC_000016" "g.(6540147_6550802)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118590" "2" "90" "9" "6553449" "6553449" "subst" "0" "01206" "GLDC_000158" "g.6553449C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553449C>G" "" "pathogenic" "" "0000118591" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118592" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118593" "2" "90" "9" "6592225" "6592225" "subst" "0" "01206" "GLDC_000259" "g.6592225T>A" "" "" "" "IVS10-2A>T" "" "Germline" "yes" "" "0" "" "" "g.6592225T>A" "" "pathogenic" "" "0000118594" "2" "90" "9" "6610328" "6610328" "subst" "2.43789E-5" "01206" "GLDC_000344" "g.6610328C>A" "" "" "" "499G>T_501G>A" "" "Germline" "yes" "" "0" "" "" "g.6610328C>A" "" "pathogenic" "" "0000118595" "2" "90" "9" "6610326" "6610326" "subst" "0.238825" "01206" "GLDC_000112" "g.6610326C>T" "" "" "" "499G>T_501G>A" "" "Germline" "yes" "" "0" "" "" "g.6610326C>T" "" "pathogenic" "" "0000118596" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118597" "2" "90" "9" "6610267" "6610267" "subst" "0" "01206" "GLDC_000027" "g.6610267G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610267G>T" "" "pathogenic" "" "0000118598" "2" "90" "9" "6604667" "6604667" "subst" "0" "01206" "GLDC_000303" "g.6604667C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604667C>A" "" "pathogenic" "" "0000118599" "2" "90" "9" "6592214" "6592214" "subst" "0" "01206" "GLDC_000256" "g.6592214A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592214A>G" "" "pathogenic" "" "0000118600" "2" "90" "9" "6553398" "6553399" "ins" "0" "01206" "GLDC_000149" "g.6553398_6553399insAACG" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553398_6553399insAACG" "" "pathogenic" "" "0000118601" "2" "90" "9" "6604694" "6604694" "subst" "4.0655E-6" "01206" "GLDC_000307" "g.6604694G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604694G>A" "" "pathogenic" "" "0000118602" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118603" "2" "90" "9" "6610216" "6610217" "delins" "0" "01206" "GLDC_000332" "g.6610216_6610217delinsAA" "" "" "" "610_611GC>TT" "" "Germline" "yes" "" "0" "" "" "g.6610216_6610217delinsAA" "" "pathogenic" "" "0000118604" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118605" "2" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118606" "2" "90" "9" "6540132" "6540132" "subst" "0" "01206" "GLDC_000135" "g.6540132C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540132C>T" "" "pathogenic" "" "0000118607" "2" "90" "9" "6604593" "6604593" "del" "0" "01206" "GLDC_000295" "g.6604593del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604593del" "" "pathogenic" "" "0000118608" "2" "90" "9" "6554703" "6554703" "subst" "0.000162969" "01206" "GLDC_000102" "g.6554703C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554703C>T" "" "pathogenic" "" "0000118609" "2" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118610" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118611" "2" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118612" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118613" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118614" "2" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118615" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118616" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118617" "2" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118618" "2" "90" "9" "6534707" "6534707" "subst" "1.63043E-5" "01206" "GLDC_000072" "g.6534707C>T" "" "" "" "IVS24+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6534707C>T" "" "pathogenic" "" "0000118619" "2" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118620" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118621" "2" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118622" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118623" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118624" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118625" "2" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118626" "2" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118627" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118628" "2" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118629" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118630" "2" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118631" "2" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118632" "2" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118633" "2" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118634" "2" "90" "9" "6595120" "6645500" "del" "0" "01206" "GLDC_000280" "g.(6595120_6602108)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118635" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118636" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118637" "2" "90" "9" "6554682" "6554682" "subst" "0" "01206" "GLDC_000168" "g.6554682C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554682C>T" "" "pathogenic" "" "0000118638" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118639" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118640" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118641" "2" "90" "9" "6588417" "6588417" "subst" "0.000219314" "01206" "GLDC_000001" "g.6588417C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588417C>A" "" "pathogenic" "" "0000118645" "2" "90" "9" "6602167" "6602167" "subst" "0" "01206" "GLDC_000288" "g.6602167T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602167T>C" "" "pathogenic" "" "0000118648" "2" "90" "9" "6554783" "6554783" "subst" "0" "01206" "GLDC_000041" "g.6554783T>C" "" "" "" "IVS18-2A>G" "" "Germline" "yes" "" "0" "" "" "g.6554783T>C" "" "pathogenic" "" "0000118649" "2" "90" "9" "6595109" "6595109" "subst" "2.84645E-5" "01206" "GLDC_000099" "g.6595109G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595109G>A" "" "pathogenic" "" "0000118650" "2" "90" "9" "6610222" "6610222" "subst" "0" "01206" "GLDC_000028" "g.6610222G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610222G>A" "" "pathogenic" "" "0000118651" "2" "90" "9" "6610222" "6610222" "subst" "0" "01206" "GLDC_000028" "g.6610222G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610222G>A" "" "pathogenic" "" "0000118652" "2" "90" "9" "6610191" "6610357" "del" "0" "01206" "GLDC_000330" "g.(6606670_6610191)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118653" "2" "90" "9" "6565392" "6565392" "subst" "4.06147E-6" "01206" "GLDC_000211" "g.6565392G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565392G>A" "" "pathogenic" "" "0000118654" "2" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "01206" "GLDC_000053" "g.6592870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000118713" "2" "90" "9" "6592933" "6592933" "subst" "0" "01206" "GLDC_000052" "g.6592933A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592933A>T" "" "pathogenic" "" "0000118714" "2" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118715" "2" "90" "9" "6587140" "6595120" "del" "0" "01206" "GLDC_000220" "g.(6565430_6587140)_(6595120_6602108)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118716" "2" "90" "9" "6550851" "6550851" "subst" "0" "01206" "GLDC_000067" "g.6550851C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550851C>G" "" "pathogenic" "" "0000118717" "2" "90" "9" "6554679" "6554679" "subst" "0" "01206" "GLDC_000166" "g.6554679G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554679G>T" "" "pathogenic" "" "0000118718" "2" "90" "9" "6602179" "6602179" "subst" "0" "01206" "GLDC_000290" "g.6602179C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602179C>G" "" "pathogenic" "" "0000118719" "2" "90" "9" "6605184" "6605184" "subst" "0" "01206" "GLDC_000033" "g.6605184C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605184C>A" "" "pathogenic" "" "0000118720" "2" "90" "9" "6533016" "6610357" "del" "0" "01206" "GLDC_000025" "g.(?_6533016)_(6610357_6620183)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118721" "2" "90" "9" "6554673" "6554673" "subst" "0" "01206" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554673C>T" "" "pathogenic" "" "0000118722" "2" "90" "9" "6536059" "6536059" "subst" "4.0701E-6" "01206" "GLDC_000069" "g.6536059C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536059C>T" "" "pathogenic" "" "0000118723" "2" "90" "9" "6610345" "6610345" "subst" "0" "01206" "GLDC_000024" "g.6610345T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610345T>C" "" "pathogenic" "" "0000118724" "2" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "01206" "GLDC_000032" "g.6605186G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605186G>A" "" "pathogenic" "" "0000118725" "2" "90" "9" "6565412" "6565412" "subst" "0" "01206" "GLDC_000216" "g.6565412T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565412T>C" "" "pathogenic" "" "0000118726" "2" "90" "9" "6554673" "6554673" "subst" "0" "01206" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554673C>T" "" "pathogenic" "" "0000118727" "2" "90" "9" "6610314" "6610314" "subst" "0" "01206" "GLDC_000026" "g.6610314C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610314C>G" "" "pathogenic" "" "0000118728" "2" "90" "9" "6534731" "6534731" "subst" "0" "01206" "GLDC_000071" "g.6534731T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534731T>C" "" "pathogenic" "" "0000118729" "2" "90" "9" "6550845" "6550845" "subst" "0" "01206" "GLDC_000139" "g.6550845G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550845G>A" "" "pathogenic" "" "0000118730" "2" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118731" "2" "90" "9" "6610267" "6610267" "subst" "0" "01206" "GLDC_000027" "g.6610267G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610267G>T" "" "pathogenic" "" "0000118732" "2" "90" "9" "6558659" "6558659" "subst" "0" "01206" "GLDC_000056" "g.6558659T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558659T>C" "" "pathogenic" "" "0000118733" "2" "90" "9" "6605141" "6605141" "subst" "4.06111E-6" "01206" "GLDC_000317" "g.6605141T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605141T>G" "" "pathogenic" "" "0000118734" "2" "90" "9" "6534707" "6534707" "subst" "1.63043E-5" "01206" "GLDC_000072" "g.6534707C>T" "" "" "" "IVS24+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6534707C>T" "" "pathogenic" "" "0000118735" "2" "90" "9" "6610357" "6645500" "del" "0" "01206" "GLDC_000008" "g.(6610357_6620183)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118736" "2" "90" "9" "6553501" "6553501" "subst" "1.21874E-5" "01206" "GLDC_000063" "g.6553501T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553501T>C" "" "pathogenic" "" "0000118737" "2" "90" "9" "6644693" "6645500" "del" "0" "01206" "GLDC_000006" "g.(6644693_6645244)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118738" "2" "90" "9" "6556201" "6556203" "delins" "0" "01206" "GLDC_000188" "g.6556201_6556203delinsTAAACCAGGA" "" "" "" "2152_2154del3insTCCTGGTTTA" "" "Germline" "yes" "" "0" "" "" "g.6556201_6556203delinsTAAACCAGGA" "" "pathogenic" "" "0000118739" "2" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118740" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118741" "2" "90" "9" "6610345" "6610345" "subst" "0" "01206" "GLDC_000024" "g.6610345T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610345T>C" "" "pathogenic" "" "0000118742" "2" "90" "9" "6604649" "6604649" "dup" "0" "01206" "GLDC_000299" "g.6604649dup" "" "" "" "1002insT" "" "Germline" "yes" "" "0" "" "" "g.6604649dup" "" "pathogenic" "" "0000118743" "2" "90" "9" "6565359" "6565359" "subst" "0" "01206" "GLDC_000207" "g.6565359T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565359T>A" "" "pathogenic" "" "0000118744" "2" "90" "9" "6550860" "6550860" "subst" "0" "01206" "GLDC_000141" "g.6550860T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550860T>C" "" "pathogenic" "" "0000118745" "2" "90" "9" "6558558" "6589293" "del" "0" "01206" "GLDC_000119" "g.(6556303_6558558)_(6589293_6592142)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118746" "2" "90" "9" "6536188" "6536188" "subst" "5.30283E-5" "01206" "GLDC_000095" "g.6536188A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>C" "" "pathogenic" "" "0000118747" "2" "90" "9" "6587140" "6644693" "dup" "0" "01206" "GLDC_000123" "g.(6565430_6587140)_(6644693_6645244)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118748" "2" "90" "9" "6540077" "6540077" "subst" "0" "01206" "GLDC_000068" "g.6540077T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540077T>A" "" "pathogenic" "" "0000118749" "2" "90" "9" "6587145" "6587145" "subst" "0" "01206" "GLDC_000227" "g.6587145T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587145T>C" "" "pathogenic" "" "0000118750" "2" "90" "9" "6565359" "6565359" "subst" "0" "01206" "GLDC_000207" "g.6565359T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6565359T>A" "" "pathogenic" "" "0000118751" "2" "90" "9" "6554708" "6554708" "subst" "0" "01206" "GLDC_000175" "g.6554708G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554708G>C" "" "pathogenic" "" "0000118752" "2" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118753" "2" "90" "9" "6536180" "6536180" "subst" "0" "01206" "GLDC_000385" "g.6536180T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536180T>G" "" "pathogenic" "" "0000118754" "2" "90" "9" "6588619" "6588619" "subst" "4.07372E-6" "01206" "GLDC_000244" "g.6588619A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588619A>C" "" "pathogenic" "" "0000118755" "2" "90" "9" "6592990" "6592990" "subst" "0" "01206" "GLDC_000268" "g.6592990C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592990C>A" "" "pathogenic" "" "0000118756" "2" "90" "9" "6645291" "6645291" "subst" "0" "01206" "GLDC_000364" "g.6645291G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6645291G>C" "" "pathogenic" "" "0000118757" "2" "90" "9" "6540138" "6540138" "subst" "0" "01206" "GLDC_000136" "g.6540138C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540138C>G" "" "pathogenic" "" "0000118758" "2" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "01206" "GLDC_000045" "g.6589230C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000118759" "2" "90" "9" "6536237" "6645500" "del" "0" "01206" "GLDC_000125" "g.(6536237_6540050)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118760" "2" "90" "9" "6533016" "6645500" "del" "0" "01206" "GLDC_000402" "g.(?_6533016)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118761" "2" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118762" "2" "90" "9" "6588676" "6588676" "subst" "1.21998E-5" "01206" "GLDC_000249" "g.6588676C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588676C>T" "" "pathogenic" "" "0000118763" "2" "90" "9" "6534747" "6534747" "subst" "0" "01206" "GLDC_000372" "g.6534747C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534747C>G" "" "pathogenic" "" "0000118764" "2" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118765" "2" "90" "9" "6588641" "6588641" "subst" "0" "01206" "GLDC_000246" "g.6588641G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588641G>C" "" "pathogenic" "" "0000118766" "2" "90" "9" "6595049" "6595053" "del" "0" "01206" "GLDC_000271" "g.6595049_6595053del" "" "" "" "1223_1227del7" "" "Germline" "yes" "" "0" "" "" "g.6595049_6595053del" "" "pathogenic" "" "0000118767" "2" "90" "9" "6533100" "6533100" "subst" "0" "01206" "GLDC_000390" "g.6533100C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533100C>T" "" "pathogenic" "" "0000118768" "2" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118769" "2" "90" "9" "6587140" "6595120" "del" "0" "01206" "GLDC_000220" "g.(6565430_6587140)_(6595120_6602108)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118770" "2" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118771" "2" "90" "9" "6533016" "6645500" "del" "0" "01206" "GLDC_000402" "g.(?_6533016)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118772" "2" "90" "9" "6587226" "6587226" "subst" "0" "01206" "GLDC_000233" "g.6587226G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6587226G>A" "" "pathogenic" "" "0000118773" "2" "90" "9" "6534742" "6534742" "subst" "1.62645E-5" "01206" "GLDC_000371" "g.6534742C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534742C>T" "" "pathogenic" "" "0000118774" "2" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118775" "2" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118776" "2" "90" "9" "6588677" "6588677" "subst" "4.06669E-6" "01206" "GLDC_000250" "g.6588677G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6588677G>A" "" "pathogenic" "" "0000118777" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118778" "2" "90" "9" "6534778" "6534778" "subst" "0" "01206" "GLDC_000374" "g.6534778T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6534778T>C" "" "pathogenic" "" "0000118779" "2" "90" "9" "6620183" "6620183" "subst" "0" "01206" "GLDC_000348" "g.6620183C>T" "" "" "" "IVS3+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6620183C>T" "" "pathogenic" "" "0000118780" "2" "90" "9" "6550845" "6550845" "subst" "0" "01206" "GLDC_000139" "g.6550845G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550845G>A" "" "pathogenic" "" "0000118781" "2" "90" "9" "6605279" "6645500" "del" "0" "01206" "GLDC_000326" "g.(6605279_6606591)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118782" "2" "90" "9" "6620183" "6620320" "del" "0" "01206" "GLDC_000346" "g.(6610357_6620183)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118783" "2" "90" "9" "6554673" "6554673" "subst" "0" "01206" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554673C>T" "" "pathogenic" "" "0000118784" "2" "90" "9" "6536188" "6536188" "subst" "5.30283E-5" "01206" "GLDC_000095" "g.6536188A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>C" "" "pathogenic" "" "0000118785" "2" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118786" "2" "90" "9" "6556173" "6556173" "subst" "4.06174E-6" "01206" "GLDC_000184" "g.6556173C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556173C>T" "" "pathogenic" "" "0000118787" "2" "90" "9" "6606605" "6606605" "subst" "0" "01206" "GLDC_000328" "g.6606605G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6606605G>A" "" "pathogenic" "" "0000118788" "2" "90" "9" "6540138" "6540138" "subst" "0" "01206" "GLDC_000136" "g.6540138C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540138C>G" "" "pathogenic" "" "0000118789" "2" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118790" "2" "90" "9" "6620183" "6620320" "dup" "0" "01206" "GLDC_000346" "g.(6610357_6620183)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118791" "2" "90" "9" "6558623" "6558623" "subst" "0" "01206" "GLDC_000197" "g.6558623A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558623A>T" "" "pathogenic" "" "0000118792" "2" "90" "9" "6604591" "6604591" "subst" "0" "01206" "GLDC_000294" "g.6604591G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604591G>C" "" "pathogenic" "" "0000118793" "2" "90" "9" "6592224" "6645500" "del" "0" "01206" "GLDC_000258" "g.(6592224_6592850)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118794" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118795" "2" "90" "9" "6540087" "6540087" "subst" "4.06147E-6" "01206" "GLDC_000132" "g.6540087C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6540087C>T" "" "pathogenic" "" "0000118796" "2" "90" "9" "6558630" "6558630" "subst" "0" "01206" "GLDC_000198" "g.6558630C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558630C>G" "" "pathogenic" "" "0000118797" "2" "90" "9" "6554705" "6554705" "subst" "0" "01206" "GLDC_000174" "g.6554705T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554705T>G" "" "pathogenic" "" "0000118798" "2" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118799" "2" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118800" "2" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "01206" "GLDC_000053" "g.6592870C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000118801" "2" "90" "9" "6565353" "6565430" "del" "0" "01206" "GLDC_000204" "g.(6558685_6565353)_(6565430_6587140)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118802" "2" "90" "9" "6534707" "6534789" "del" "0" "01206" "GLDC_000393" "g.(6533161_6534707)_(6534789_6536063)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118803" "2" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118804" "2" "90" "9" "6536236" "6536236" "subst" "0" "01206" "GLDC_000369" "g.6536236C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536236C>A" "" "pathogenic" "" "0000118805" "2" "90" "9" "6534707" "6534707" "subst" "1.63043E-5" "01206" "GLDC_000072" "g.6534707C>T" "" "" "" "IVS24+1G>A" "" "Germline" "yes" "" "0" "" "" "g.6534707C>T" "" "pathogenic" "" "0000118806" "2" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118807" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118808" "2" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118809" "2" "90" "9" "6604660" "6604660" "subst" "0" "01206" "GLDC_000301" "g.6604660G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604660G>A" "" "pathogenic" "" "0000118810" "2" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118811" "2" "90" "9" "6556180" "6556180" "subst" "0" "01206" "GLDC_000186" "g.6556180G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556180G>C" "" "pathogenic" "" "0000118812" "2" "90" "9" "6553510" "6553510" "subst" "3.28574E-5" "01206" "GLDC_000062" "g.6553510C>T" "" "" "" "IVS19-1G>A" "" "Germline" "yes" "" "0" "" "" "g.6553510C>T" "" "pathogenic" "" "0000118813" "2" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118814" "2" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "01206" "GLDC_000103" "g.6553420G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000118815" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118816" "2" "90" "9" "6592982" "6592982" "subst" "2.03714E-5" "01206" "GLDC_000050" "g.6592982G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592982G>A" "" "pathogenic" "" "0000118817" "2" "90" "9" "6610292" "6610292" "subst" "0" "01206" "GLDC_000339" "g.6610292A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610292A>T" "" "pathogenic" "" "0000118818" "2" "90" "9" "6536105" "6536105" "subst" "0" "01206" "GLDC_000380" "g.6536105T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536105T>A" "" "pathogenic" "" "0000118819" "2" "90" "9" "6604677" "6604687" "delins" "0" "01206" "GLDC_000305" "g.6604677_6604687delinsCTCCC" "" "" "" "959_969delins5" "" "Germline" "yes" "" "0" "" "" "g.6604677_6604687delinsCTCCC" "" "pathogenic" "" "0000118820" "2" "90" "9" "6605193" "6605193" "subst" "0" "01206" "GLDC_000320" "g.6605193G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605193G>A" "" "pathogenic" "" "0000118821" "2" "90" "9" "6620183" "6620320" "dup" "0" "01206" "GLDC_000346" "g.(6610357_6620183)_(6620320_6644613)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118822" "2" "90" "9" "6604670" "6604670" "subst" "0" "01206" "GLDC_000304" "g.6604670A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604670A>C" "" "pathogenic" "" "0000118823" "2" "90" "9" "6588641" "6588641" "subst" "0" "01206" "GLDC_000246" "g.6588641G>c" "" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.6588641G>C" "" "pathogenic" "" "0000118824" "2" "90" "9" "6556215" "6556215" "subst" "0" "01206" "GLDC_000191" "g.6556215A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556215A>G" "" "pathogenic" "" "0000118825" "2" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118826" "2" "90" "9" "6610230" "6610230" "del" "0" "01206" "GLDC_000334" "g.6610230del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610230del" "" "pathogenic" "" "0000118827" "2" "90" "9" "6604735" "6604735" "subst" "0" "01206" "GLDC_000311" "g.6604735G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604735G>A" "" "pathogenic" "" "0000118828" "2" "90" "9" "6553496" "6553496" "subst" "0" "01206" "GLDC_000160" "g.6553496C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553496C>G" "" "pathogenic" "" "0000118829" "2" "90" "9" "6534703" "6534703" "subst" "0" "01206" "GLDC_000396" "g.6534703C>G" "" "" "" "IVS24+5G>T" "" "Germline" "yes" "" "0" "" "" "g.6534703C>G" "" "pathogenic" "" "0000118830" "2" "90" "9" "6533117" "6533117" "subst" "1.21848E-5" "01206" "GLDC_000391" "g.6533117C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6533117C>T" "" "pathogenic" "" "0000118831" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118832" "2" "90" "9" "6595092" "6595092" "subst" "0" "01206" "GLDC_000274" "g.6595092A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595092A>G" "" "pathogenic" "" "0000118833" "2" "90" "9" "6554697" "6554697" "subst" "0" "01206" "GLDC_000171" "g.6554697C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554697C>G" "" "pathogenic" "" "0000118834" "2" "90" "9" "6565349" "6565349" "subst" "0" "01206" "GLDC_000206" "g.6565349C>T" "" "" "" "IVS16+5G>A" "" "Germline" "yes" "" "0" "" "" "g.6565349C>T" "" "pathogenic" "" "0000118835" "2" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "01206" "GLDC_000048" "g.6604637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604637G>A" "" "pathogenic" "" "0000118836" "2" "90" "9" "6620217" "6620217" "subst" "4.06075E-6" "01206" "GLDC_000350" "g.6620217G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6620217G>T" "" "pathogenic" "" "0000118837" "2" "90" "9" "6604724" "6604724" "del" "0" "01206" "GLDC_000308" "g.6604724del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604724del" "" "pathogenic" "" "0000118838" "1" "90" "9" "6605279" "6645500" "del" "0" "01206" "GLDC_000326" "g.(6605279_6606591)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118839" "2" "90" "9" "6556244" "6556244" "subst" "0" "01206" "GLDC_000192" "g.6556244C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6556244C>A" "" "pathogenic" "" "0000118840" "2" "90" "9" "6605279" "6645500" "del" "0" "01206" "GLDC_000326" "g.(6605279_6606591)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118842" "2" "90" "9" "6533016" "6533161" "del" "0" "01206" "GLDC_000400" "g.(?_6533016)_(6533161_6534707)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118843" "2" "90" "9" "6553457" "6553457" "subst" "8.12137E-6" "01206" "GLDC_000092" "g.6553457G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6553457G>A" "" "pathogenic" "" "0000118845" "2" "90" "9" "6565430" "6645500" "del" "0" "01206" "GLDC_000225" "g.(6565430_6587140)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118847" "2" "90" "9" "6645497" "6645497" "subst" "0" "01206" "GLDC_000367" "g.6645497C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6645497C>A" "" "pathogenic" "" "0000118848" "2" "90" "9" "6602138" "6602138" "subst" "0" "01206" "GLDC_000284" "g.6602138T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602138T>C" "" "pathogenic" "" "0000118849" "2" "90" "9" "6610230" "6610230" "del" "0" "01206" "GLDC_000334" "g.6610230del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6610230del" "" "pathogenic" "" "0000118850" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118852" "2" "90" "9" "6536104" "6536104" "subst" "1.62497E-5" "01206" "GLDC_000379" "g.6536104A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536104A>G" "" "pathogenic" "" "0000118853" "2" "90" "9" "6602180" "6602180" "subst" "4.06339E-6" "01206" "GLDC_000291" "g.6602180G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6602180G>A" "" "pathogenic" "" "0000118854" "2" "90" "9" "6587140" "6606670" "del" "0" "01206" "GLDC_000222" "g.(6565430_6587140)_(6606670_6610191)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118855" "2" "90" "9" "6554681" "6554681" "subst" "0" "01206" "GLDC_000167" "g.6554681C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554681C>T" "" "pathogenic" "" "0000118856" "2" "90" "9" "6610357" "6645500" "del" "0" "01206" "GLDC_000008" "g.(6610357_6620183)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118857" "2" "90" "9" "6536188" "6536188" "subst" "5.30283E-5" "01206" "GLDC_000095" "g.6536188A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536188A>C" "" "pathogenic" "" "0000118858" "1" "90" "9" "6558688" "6558688" "subst" "0.000190903" "01206" "GLDC_000205" "g.6558688C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6558688C>T" "" "pathogenic" "" "0000118859" "2" "90" "9" "6592871" "6592871" "subst" "8.12315E-6" "01206" "GLDC_000261" "g.6592871G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6592871G>A" "" "pathogenic" "" "0000118860" "2" "90" "9" "6604724" "6604724" "del" "0" "01206" "GLDC_000308" "g.6604724del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6604724del" "" "pathogenic" "" "0000118861" "2" "90" "9" "6620320" "6645500" "del" "0" "01206" "GLDC_000007" "g.(6620320_6644613)_(6645500_?)" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118862" "2" "90" "9" "6605193" "6605193" "subst" "0" "01206" "GLDC_000321" "g.6605193G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6605193G>C" "" "pathogenic" "" "0000118863" "2" "90" "9" "6587140" "6595120" "del" "0" "01206" "GLDC_000220" "g.(6565430_6587140)_(6595120_6602108)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000118864" "2" "90" "9" "6550845" "6550845" "subst" "0" "01206" "GLDC_000139" "g.6550845G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6550845G>A" "" "pathogenic" "" "0000118918" "3" "11" "9" "6595046" "6595046" "subst" "0.00381366" "01206" "GLDC_000039" "g.6595046C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6595046C>T" "" "benign" "" "0000118919" "0" "11" "9" "6595046" "6595046" "subst" "0.00381366" "01206" "GLDC_000039" "g.6595046C>T" "" "" "" "" "expression cloning did not significantly decrease enzyme activity" "In vitro (cloned)" "-" "" "0" "" "" "g.6595046C>T" "" "NA" "" "0000118920" "0" "11" "9" "6556242" "6556242" "subst" "0.00382566" "01206" "GLDC_000057" "g.6556242C>T" "" "" "" "" "expression cloning did not significntly decrease enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.6556242C>T" "" "NA" "" "0000118921" "3" "11" "9" "6556242" "6556242" "subst" "0.00382566" "01206" "GLDC_000057" "g.6556242C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6556242C>T" "" "benign" "" "0000128942" "3" "90" "9" "6645377" "6645377" "subst" "0" "00008" "GLDC_000403" "g.6645377G>C" "" "" "" "" "There is now experimental prove it does not affect function." "Unknown" "?" "" "0" "" "" "g.6645377G>C" "" "pathogenic" "" "0000154425" "0" "99" "9" "6588640" "6588640" "subst" "0" "01872" "GLDC_000404" "g.6588640A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6588640A>G" "" "pathogenic" "" "0000154439" "0" "90" "9" "6554681" "6554681" "subst" "0" "01872" "GLDC_000167" "g.6554681C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6554681C>T" "" "pathogenic" "" "0000244162" "3" "90" "9" "6533142" "6533142" "subst" "1.62473E-5" "00006" "GLDC_000405" "g.6533142T>C" "" "{PMID:Karaca 2015:26539891}" "" "NM_000170: c.A2938G; p.N980D" "" "Germline" "" "" "0" "" "" "g.6533142T>C" "" "pathogenic" "" "0000249135" "0" "10" "9" "6553522" "6553522" "dup" "0" "02325" "GLDC_000457" "g.6553522dup" "" "" "" "GLDC(NM_000170.3):c.2316-14delTinsTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6553522dup" "" "benign" "" "0000251460" "0" "10" "9" "6587054" "6587054" "subst" "0" "02326" "GLDC_000422" "g.6587054A>T" "" "" "" "GLDC(NM_000170.2):c.1850+87T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6587054A>T" "" "benign" "" "0000251461" "0" "10" "9" "6594977" "6594977" "subst" "0" "02326" "GLDC_000433" "g.6594977A>T" "" "" "" "GLDC(NM_000170.2):c.1261+37T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6594977A>T" "" "benign" "" "0000251462" "0" "10" "9" "6604513" "6604513" "subst" "0" "02326" "GLDC_000436" "g.6604513A>T" "" "" "" "GLDC(NM_000170.2):c.1058+75T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6604513A>T" "" "benign" "" "0000251463" "0" "10" "9" "6606778" "6606778" "subst" "0" "02326" "GLDC_000441" "g.6606778A>G" "" "" "" "GLDC(NM_000170.2):c.636-109T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6606778A>G" "" "benign" "" "0000251797" "0" "30" "9" "6610329" "6610329" "subst" "0.00131243" "02326" "GLDC_000443" "g.6610329A>G" "" "" "" "GLDC(NM_000170.2):c.498T>C (p.P166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610329A>G" "" "likely benign" "" "0000251823" "0" "30" "9" "6604775" "6604775" "subst" "0.00151998" "02326" "GLDC_000471" "g.6604775A>C" "" "" "" "GLDC(NM_000170.2):c.871T>G (p.C291G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6604775A>C" "" "likely benign" "" "0000252181" "0" "30" "9" "6551009" "6551009" "subst" "0" "02326" "GLDC_000413" "g.6551009A>C" "" "" "" "GLDC(NM_000170.2):c.2458-95T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6551009A>C" "" "likely benign" "" "0000252182" "0" "30" "9" "6606690" "6606690" "subst" "0.00956009" "02326" "GLDC_000439" "g.6606690A>T" "" "" "" "GLDC(NM_000170.2):c.636-21T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6606690A>T" "" "likely benign" "" "0000281060" "0" "10" "9" "6533010" "6533010" "subst" "0.689998" "02325" "GLDC_000406" "g.6533010C>G" "" "" "" "GLDC(NM_000170.2):c.*7G>C, GLDC(NM_000170.3):c.*7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6533010C>G" "" "benign" "" "0000281061" "0" "70" "9" "6604591" "6604591" "subst" "0" "02325" "GLDC_000294" "g.6604591G>C" "" "" "" "GLDC(NM_000170.2):c.1055C>G (p.T352R), GLDC(NM_000170.3):c.1055C>G (p.T352R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6604591G>C" "" "likely pathogenic" "" "0000281062" "0" "30" "9" "6595126" "6595126" "subst" "0.00206617" "02325" "GLDC_000434" "g.6595126G>C" "" "" "" "GLDC(NM_000170.2):c.1156-7C>G, GLDC(NM_000170.3):c.1156-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6595126G>C" "" "likely benign" "" "0000281063" "0" "10" "9" "6588403" "6588403" "subst" "0.0043622" "02325" "GLDC_000078" "g.6588403C>T" "" "" "" "GLDC(NM_000170.2):c.1705G>A (p.(Ala569Thr), p.A569T), GLDC(NM_000170.3):c.1705G>A (p.A569T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6588403C>T" "" "benign" "" "0000281064" "0" "30" "9" "6558693" "6558693" "subst" "0.00182382" "02325" "GLDC_000420" "g.6558693T>C" "" "" "" "GLDC(NM_000170.2):c.1927-9A>G, GLDC(NM_000170.3):c.1927-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6558693T>C" "" "likely benign" "" "0000281065" "0" "70" "9" "6553510" "6553510" "subst" "3.28574E-5" "02325" "GLDC_000062" "g.6553510C>T" "" "" "" "GLDC(NM_000170.3):c.2316-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6553510C>T" "" "likely pathogenic" "" "0000281066" "0" "10" "9" "6645448" "6645448" "subst" "0.0155912" "02325" "GLDC_000449" "g.6645448C>A" "" "" "" "GLDC(NM_000170.2):c.52G>T (p.(Gly18Cys)), GLDC(NM_000170.3):c.52G>T (p.G18C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6645448C>A" "" "benign" "" "0000281067" "0" "70" "9" "6604660" "6604660" "subst" "0" "02325" "GLDC_000301" "g.6604660G>A" "" "" "" "GLDC(NM_000170.3):c.986C>T (p.P329L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6604660G>A" "" "likely pathogenic" "" "0000284662" "0" "30" "9" "6533010" "6533010" "subst" "0.689998" "02326" "GLDC_000406" "g.6533010C>G" "" "" "" "GLDC(NM_000170.2):c.*7G>C, GLDC(NM_000170.3):c.*7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6533010C>G" "" "likely benign" "" "0000284663" "0" "90" "9" "6604591" "6604591" "subst" "0" "02326" "GLDC_000294" "g.6604591G>C" "" "" "" "GLDC(NM_000170.2):c.1055C>G (p.T352R), GLDC(NM_000170.3):c.1055C>G (p.T352R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6604591G>C" "" "pathogenic" "" "0000284664" "0" "30" "9" "6602121" "6602121" "subst" "3.65506E-5" "02326" "GLDC_000435" "g.6602121G>T" "" "" "" "GLDC(NM_000170.2):c.1143C>A (p.I381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6602121G>T" "" "likely benign" "" "0000284665" "0" "30" "9" "6595046" "6595046" "subst" "0.00381366" "02326" "GLDC_000039" "g.6595046C>T" "" "" "" "GLDC(NM_000170.2):c.1229G>A (p.R410K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6595046C>T" "" "likely benign" "" "0000284666" "0" "10" "9" "6594942" "6594942" "subst" "0" "02326" "GLDC_000432" "g.6594942C>T" "" "" "" "GLDC(NM_000170.2):c.1261+72G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6594942C>T" "" "benign" "" "0000284667" "0" "90" "9" "6592870" "6592870" "subst" "8.12295E-6" "02326" "GLDC_000053" "g.6592870C>T" "" "" "" "GLDC(NM_000170.2):c.1382G>A (p.R461Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6592870C>T" "" "pathogenic" "" "0000284668" "0" "30" "9" "6592868" "6592868" "subst" "0.0185167" "02326" "GLDC_000431" "g.6592868G>C" "" "" "" "GLDC(NM_000170.2):c.1384C>G (p.L462V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6592868G>C" "" "likely benign" "" "0000284670" "0" "30" "9" "6592285" "6592285" "subst" "0" "02326" "GLDC_000429" "g.6592285C>A" "" "" "" "GLDC(NM_000170.2):c.1402-62G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6592285C>A" "" "likely benign" "" "0000284672" "0" "10" "9" "6589230" "6589230" "subst" "0.0225377" "02326" "GLDC_000425" "g.6589230C>T" "" "" "" "GLDC(NM_000170.2):c.1545G>A (p.R515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6589230C>T" "" "benign" "" "0000284673" "0" "90" "9" "6589230" "6589230" "subst" "8.93387E-5" "02326" "GLDC_000045" "g.6589230C>G" "" "" "" "GLDC(NM_000170.2):c.1545G>C (p.R515S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6589230C>G" "" "pathogenic" "" "0000284674" "0" "70" "9" "6588676" "6588676" "subst" "1.21998E-5" "02326" "GLDC_000249" "g.6588676C>T" "" "" "" "GLDC(NM_000170.2):c.1607G>A (p.R536Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6588676C>T" "" "likely pathogenic" "" "0000284675" "0" "30" "9" "6588403" "6588403" "subst" "0.0043622" "02326" "GLDC_000078" "g.6588403C>T" "" "" "" "GLDC(NM_000170.2):c.1705G>A (p.(Ala569Thr), p.A569T), GLDC(NM_000170.3):c.1705G>A (p.A569T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6588403C>T" "" "likely benign" "" "0000284677" "0" "10" "9" "6587057" "6587057" "subst" "0" "02326" "GLDC_000423" "g.6587057G>C" "" "" "" "GLDC(NM_000170.2):c.1850+84C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6587057G>C" "" "benign" "" "0000284678" "0" "10" "9" "6565354" "6565354" "subst" "5.28035E-5" "02326" "GLDC_000421" "g.6565354C>T" "" "" "" "GLDC(NM_000170.2):c.1926G>A (p.T642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6565354C>T" "" "benign" "" "0000284679" "0" "30" "9" "6558693" "6558693" "subst" "0.00182382" "02326" "GLDC_000420" "g.6558693T>C" "" "" "" "GLDC(NM_000170.2):c.1927-9A>G, GLDC(NM_000170.3):c.1927-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6558693T>C" "" "likely benign" "" "0000284680" "0" "10" "9" "6556307" "6556307" "subst" "0.00217704" "02326" "GLDC_000419" "g.6556307G>C" "" "" "" "GLDC(NM_000170.2):c.2053-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6556307G>C" "" "benign" "" "0000284681" "0" "10" "9" "6556242" "6556242" "subst" "0.00382566" "02326" "GLDC_000057" "g.6556242C>T" "" "" "" "GLDC(NM_000170.2):c.2113G>A (p.V705M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6556242C>T" "" "benign" "" "0000284682" "0" "30" "9" "6556101" "6556101" "del" "0" "02326" "GLDC_000417" "g.6556101del" "" "" "" "GLDC(NM_000170.2):c.2202+53delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6556101del" "" "likely benign" "" "0000284683" "0" "10" "9" "6556099" "6556099" "del" "0" "02326" "GLDC_000416" "g.6556099del" "" "" "" "GLDC(NM_000170.2):c.2202+66delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6556099del" "" "benign" "" "0000284684" "0" "30" "9" "6554781" "6554781" "subst" "0.00657303" "02326" "GLDC_000415" "g.6554781C>A" "" "" "" "GLDC(NM_000170.2):c.2203G>T (p.V735L), GLDC(NM_000170.3):c.2203G>T (p.V735L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6554781C>A" "" "likely benign" "" "0000284685" "0" "90" "9" "6554703" "6554703" "subst" "0.000162969" "02326" "GLDC_000102" "g.6554703C>T" "" "" "" "GLDC(NM_000170.2):c.2281G>A (p.G761R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6554703C>T" "" "pathogenic" "" "0000284686" "0" "30" "9" "6645272" "6645272" "subst" "4.3587E-5" "02326" "GLDC_000448" "g.6645272T>C" "" "" "" "GLDC(NM_000170.2):c.228A>G (p.R76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6645272T>C" "" "likely benign" "" "0000284687" "0" "30" "9" "6553445" "6553445" "subst" "0.00696035" "02326" "GLDC_000414" "g.6553445C>T" "" "" "" "GLDC(NM_000170.2):c.2380G>A (p.A794T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6553445C>T" "" "likely benign" "" "0000284688" "0" "90" "9" "6553420" "6553420" "subst" "4.06108E-6" "02326" "GLDC_000103" "g.6553420G>A" "" "" "" "GLDC(NM_000170.2):c.2405C>T (p.A802V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6553420G>A" "" "pathogenic" "" "0000284689" "0" "90" "9" "6550883" "6550883" "subst" "1.6243E-5" "02326" "GLDC_000066" "g.6550883G>A" "" "" "" "GLDC(NM_000170.2):c.2489C>T (p.T830M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6550883G>A" "" "pathogenic" "" "0000284690" "0" "10" "9" "6645251" "6645251" "subst" "0.225887" "02326" "GLDC_000446" "g.6645251C>T" "" "" "" "GLDC(NM_000170.2):c.249G>A (p.G83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6645251C>T" "" "benign" "" "0000284691" "0" "70" "9" "6536180" "6536180" "subst" "0" "02326" "GLDC_000385" "g.6536180T>G" "" "" "" "GLDC(NM_000170.2):c.2722A>C (p.T908P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6536180T>G" "" "likely pathogenic" "" "0000284692" "0" "30" "9" "6535956" "6535956" "subst" "0" "02326" "GLDC_000410" "g.6535956G>C" "" "" "" "GLDC(NM_000170.2):c.2838+108C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6535956G>C" "" "likely benign" "" "0000284693" "0" "10" "9" "6535975" "6535975" "subst" "0" "02326" "GLDC_000411" "g.6535975G>T" "" "" "" "GLDC(NM_000170.2):c.2838+89C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6535975G>T" "" "benign" "" "0000284694" "0" "30" "9" "6533078" "6533078" "subst" "0.000255873" "02326" "GLDC_000407" "g.6533078G>T" "" "" "" "GLDC(NM_000170.2):c.3002C>A (p.T1001N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6533078G>T" "" "likely benign" "" "0000284695" "0" "10" "9" "6620216" "6620216" "subst" "0.0617452" "02326" "GLDC_000444" "g.6620216C>T" "" "" "" "GLDC(NM_000170.2):c.438G>A (p.T146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6620216C>T" "" "benign" "" "0000284696" "0" "30" "9" "6610208" "6610208" "subst" "0.000268103" "02326" "GLDC_000442" "g.6610208G>C" "" "" "" "GLDC(NM_000170.2):c.619C>G (p.L207V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610208G>C" "" "likely benign" "" "0000284697" "0" "10" "9" "6606746" "6606746" "subst" "0" "02326" "GLDC_000440" "g.6606746T>C" "" "" "" "GLDC(NM_000170.2):c.636-77A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6606746T>C" "" "benign" "" "0000284698" "0" "10" "9" "6606545" "6606545" "subst" "0.0117429" "02326" "GLDC_000438" "g.6606545T>C" "" "" "" "GLDC(NM_000170.2):c.713+47A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6606545T>C" "" "benign" "" "0000284699" "0" "70" "9" "6605181" "6605181" "subst" "0" "02326" "GLDC_000318" "g.6605181C>T" "" "" "" "GLDC(NM_000170.2):c.811G>A (p.G271R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6605181C>T" "" "likely pathogenic" "" "0000284700" "0" "70" "9" "6604760" "6604760" "subst" "0" "02326" "GLDC_000312" "g.6604760G>A" "" "" "" "GLDC(NM_000170.2):c.886C>T (p.L296F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6604760G>A" "" "likely pathogenic" "" "0000288404" "0" "30" "9" "6595126" "6595126" "subst" "0.00206617" "01943" "GLDC_000434" "g.6595126G>C" "" "" "" "GLDC(NM_000170.2):c.1156-7C>G, GLDC(NM_000170.3):c.1156-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6595126G>C" "" "likely benign" "" "0000288405" "0" "50" "9" "6589288" "6589293" "del" "0" "01943" "GLDC_000427" "g.6589288_6589293del" "" "" "" "GLDC(NM_000170.2):c.1484_1489delAACTGG (p.E495_L496del), GLDC(NM_000170.3):c.1484_1489del (p.(Glu495_Leu496del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6589288_6589293del" "" "VUS" "" "0000288406" "0" "10" "9" "6589267" "6589267" "subst" "0.00314713" "01943" "GLDC_000426" "g.6589267T>G" "" "" "" "GLDC(NM_000170.2):c.1508A>C (p.E503A), GLDC(NM_000170.3):c.1508A>C (p.(Glu503Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6589267T>G" "" "benign" "" "0000288407" "0" "30" "9" "6556307" "6556307" "subst" "0.00217704" "01943" "GLDC_000419" "g.6556307G>C" "" "" "" "GLDC(NM_000170.2):c.2053-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6556307G>C" "" "likely benign" "" "0000288408" "0" "10" "9" "6553445" "6553445" "subst" "0.00696035" "01943" "GLDC_000414" "g.6553445C>T" "" "" "" "GLDC(NM_000170.2):c.2380G>A (p.A794T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6553445C>T" "" "benign" "" "0000288409" "0" "30" "9" "6550885" "6550885" "subst" "0.00185979" "01943" "GLDC_000412" "g.6550885G>A" "" "" "" "GLDC(NM_000170.2):c.2487C>T (p.A829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6550885G>A" "" "likely benign" "" "0000288410" "0" "30" "9" "6534753" "6534753" "subst" "0.000288592" "01943" "GLDC_000409" "g.6534753G>A" "" "" "" "GLDC(NM_000170.2):c.2874C>T (p.S958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6534753G>A" "" "likely benign" "" "0000288411" "0" "30" "9" "6533078" "6533078" "subst" "0.000255873" "01943" "GLDC_000407" "g.6533078G>T" "" "" "" "GLDC(NM_000170.2):c.3002C>A (p.T1001N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6533078G>T" "" "likely benign" "" "0000332560" "0" "50" "9" "6556167" "6556167" "subst" "0" "01804" "GLDC_000418" "g.6556167T>C" "" "" "" "GLDC(NM_000170.2):c.2188A>G (p.(Asn730Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6556167T>C" "" "VUS" "" "0000332563" "0" "50" "9" "6644656" "6644656" "subst" "4.46777E-5" "01804" "GLDC_000445" "g.6644656T>C" "" "" "" "GLDC(NM_000170.2):c.292A>G (p.(Asn98Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6644656T>C" "" "VUS" "" "0000332564" "0" "50" "9" "6645269" "6645269" "subst" "1.75131E-5" "01804" "GLDC_000447" "g.6645269C>G" "" "" "" "GLDC(NM_000170.2):c.231G>C (p.E77D, p.(Glu77Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6645269C>G" "" "VUS" "" "0000341953" "0" "50" "9" "6620209" "6620209" "subst" "1.62431E-5" "02327" "GLDC_000454" "g.6620209G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6620209G>A" "" "VUS" "" "0000343107" "0" "50" "9" "6645337" "6645337" "subst" "7.36456E-5" "02327" "GLDC_000456" "g.6645337G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6645337G>C" "" "VUS" "" "0000343780" "0" "50" "9" "6589197" "6589197" "subst" "0" "02327" "GLDC_000452" "g.6589197G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6589197G>C" "" "VUS" "" "0000346252" "0" "50" "9" "6554754" "6554754" "subst" "8.59085E-5" "02327" "GLDC_000451" "g.6554754C>T" "" "" "" "GLDC(NM_000170.3):c.2230G>A (p.(Gly744Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6554754C>T" "" "VUS" "" "0000346535" "0" "50" "9" "6534778" "6534778" "subst" "0" "02327" "GLDC_000374" "g.6534778T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6534778T>C" "" "VUS" "" "0000347294" "0" "50" "9" "6556208" "6556208" "subst" "0.000235556" "02327" "GLDC_000190" "g.6556208A>T" "" "" "" "GLDC(NM_000170.2):c.2147T>A (p.(Leu716His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6556208A>T" "" "VUS" "" "0000348109" "0" "50" "9" "6533073" "6533073" "subst" "4.06134E-6" "02327" "GLDC_000450" "g.6533073G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6533073G>A" "" "VUS" "" "0000349054" "0" "50" "9" "6592147" "6592147" "subst" "0" "02327" "GLDC_000453" "g.6592147G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6592147G>A" "" "VUS" "" "0000538325" "0" "10" "9" "6534845" "6534845" "subst" "0" "02326" "GLDC_000458" "g.6534845T>C" "" "" "" "GLDC(NM_000170.2):c.2839-57A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6534845T>C" "" "benign" "" "0000538326" "0" "30" "9" "6536154" "6536154" "subst" "0.000491834" "01943" "GLDC_000459" "g.6536154C>T" "" "" "" "GLDC(NM_000170.2):c.2748G>A (p.L916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6536154C>T" "" "likely benign" "" "0000538331" "0" "30" "9" "6553360" "6553360" "subst" "0.000865228" "02326" "GLDC_000462" "g.6553360G>A" "" "" "" "GLDC(NM_000170.2):c.2457+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6553360G>A" "" "likely benign" "" "0000538333" "0" "30" "9" "6553428" "6553428" "subst" "3.24873E-5" "01943" "GLDC_000464" "g.6553428G>A" "" "" "" "GLDC(NM_000170.2):c.2397C>T (p.T799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6553428G>A" "" "likely benign" "" "0000538336" "0" "30" "9" "6556196" "6556196" "subst" "4.06128E-6" "01804" "GLDC_000465" "g.6556196T>C" "" "" "" "GLDC(NM_000170.2):c.2159A>G (p.(His720Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6556196T>C" "" "likely benign" "" "0000538337" "0" "10" "9" "6556242" "6556242" "subst" "0.00382566" "01943" "GLDC_000057" "g.6556242C>T" "" "" "" "GLDC(NM_000170.2):c.2113G>A (p.V705M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6556242C>T" "" "benign" "" "0000538338" "0" "90" "9" "6558659" "6558659" "subst" "0" "02325" "GLDC_000056" "g.6558659T>C" "" "" "" "GLDC(NM_000170.3):c.1952A>G (p.H651R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6558659T>C" "" "pathogenic" "" "0000538339" "0" "90" "9" "6587273" "6587273" "subst" "0" "02327" "GLDC_000466" "g.6587273C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6587273C>T" "" "pathogenic" "" "0000538340" "0" "30" "9" "6588403" "6588403" "subst" "0.0043622" "01804" "GLDC_000078" "g.6588403C>T" "" "" "" "GLDC(NM_000170.2):c.1705G>A (p.(Ala569Thr), p.A569T), GLDC(NM_000170.3):c.1705G>A (p.A569T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6588403C>T" "" "likely benign" "" "0000538341" "0" "30" "9" "6589365" "6589365" "dup" "0" "02326" "GLDC_000467" "g.6589365dup" "" "" "" "GLDC(NM_000170.2):c.1483-71dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6589365dup" "" "likely benign" "" "0000538342" "0" "10" "9" "6592802" "6592803" "ins" "0.0281853" "02326" "GLDC_000468" "g.6592802_6592803insG" "" "" "" "GLDC(NM_000170.2):c.1401+48_1401+49insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6592802_6592803insG" "" "benign" "" "0000538345" "0" "50" "9" "6604589" "6604589" "subst" "0" "01804" "GLDC_000470" "g.6604589T>C" "" "" "" "GLDC(NM_000170.2):c.1057A>G (p.(Arg353Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6604589T>C" "" "VUS" "" "0000538346" "0" "30" "9" "6604686" "6604686" "subst" "1.62595E-5" "01943" "GLDC_000437" "g.6604686A>C" "" "" "" "GLDC(NM_000170.2):c.960T>G (p.F320L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6604686A>C" "" "likely benign" "" "0000538347" "0" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "02325" "GLDC_000032" "g.6605186G>A" "" "" "" "GLDC(NM_000170.2):c.806C>T (p.T269M), GLDC(NM_000170.3):c.806C>T (p.T269M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6605186G>A" "" "pathogenic" "" "0000538348" "0" "90" "9" "6605186" "6605186" "subst" "1.62441E-5" "02326" "GLDC_000032" "g.6605186G>A" "" "" "" "GLDC(NM_000170.2):c.806C>T (p.T269M), GLDC(NM_000170.3):c.806C>T (p.T269M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6605186G>A" "" "pathogenic" "" "0000538349" "0" "70" "9" "6605186" "6605186" "subst" "1.62441E-5" "02329" "GLDC_000032" "g.6605186G>A" "" "" "" "GLDC(NM_000170.2):c.806C>T (p.T269M), GLDC(NM_000170.3):c.806C>T (p.T269M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6605186G>A" "" "likely pathogenic" "" "0000538350" "0" "50" "9" "6605276" "6605276" "subst" "1.21841E-5" "01804" "GLDC_000472" "g.6605276T>C" "" "" "" "GLDC(NM_000170.2):c.716A>G (p.(Tyr239Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6605276T>C" "" "VUS" "" "0000538351" "0" "30" "9" "6606627" "6606627" "subst" "0.00108419" "02326" "GLDC_000473" "g.6606627G>A" "" "" "" "GLDC(NM_000170.2):c.678C>T (p.H226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6606627G>A" "" "likely benign" "" "0000538352" "0" "10" "9" "6610326" "6610326" "subst" "0.238825" "02326" "GLDC_000112" "g.6610326C>T" "" "" "" "GLDC(NM_000170.2):c.501G>A (p.E167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6610326C>T" "" "benign" "" "0000538354" "0" "10" "9" "6644629" "6644629" "subst" "0.0162882" "02326" "GLDC_000474" "g.6644629T>C" "" "" "" "GLDC(NM_000170.2):c.319A>G (p.M107V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6644629T>C" "" "benign" "" "0000538355" "0" "50" "9" "6644662" "6644662" "subst" "1.62492E-5" "01943" "GLDC_000475" "g.6644662G>A" "" "" "" "GLDC(NM_000170.2):c.286C>T (p.P96S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6644662G>A" "" "VUS" "" "0000538356" "0" "30" "9" "6645448" "6645448" "subst" "0.0155912" "01804" "GLDC_000449" "g.6645448C>A" "" "" "" "GLDC(NM_000170.2):c.52G>T (p.(Gly18Cys)), GLDC(NM_000170.3):c.52G>T (p.G18C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6645448C>A" "" "likely benign" "" "0000538357" "0" "70" "9" "6645477" "6645477" "del" "0" "01804" "GLDC_000476" "g.6645477del" "" "" "" "GLDC(NM_000170.2):c.27delG (p.(Leu10CysfsTer81)), GLDC(NM_000170.3):c.27delG (p.L10Cfs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6645477del" "" "likely pathogenic" "" "0000538358" "0" "90" "9" "6645477" "6645477" "del" "0" "02325" "GLDC_000476" "g.6645477del" "" "" "" "GLDC(NM_000170.2):c.27delG (p.(Leu10CysfsTer81)), GLDC(NM_000170.3):c.27delG (p.L10Cfs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6645477del" "" "pathogenic" "" "0000612151" "0" "50" "9" "6604646" "6604646" "subst" "0.000320893" "02325" "GLDC_000300" "g.6604646A>G" "" "" "" "GLDC(NM_000170.3):c.1000T>C (p.F334L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6604646A>G" "" "VUS" "" "0000612152" "0" "30" "9" "6645310" "6645310" "subst" "0.000428698" "01943" "GLDC_000480" "g.6645310C>A" "" "" "" "GLDC(NM_000170.2):c.190G>T (p.A64S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6645310C>A" "" "likely benign" "" "0000622280" "0" "30" "9" "6588448" "6588448" "subst" "1.21848E-5" "01943" "GLDC_000478" "g.6588448A>G" "" "" "" "GLDC(NM_000170.2):c.1666-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6588448A>G" "" "likely benign" "" "0000622281" "0" "90" "9" "6604637" "6604637" "subst" "1.21872E-5" "02325" "GLDC_000048" "g.6604637G>A" "" "" "" "GLDC(NM_000170.3):c.1009C>T (p.R337*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6604637G>A" "" "pathogenic" "" "0000622282" "0" "50" "9" "6620217" "6620217" "subst" "2.03037E-5" "02326" "GLDC_000479" "g.6620217G>A" "" "" "" "GLDC(NM_000170.2):c.437C>T (p.T146M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6620217G>A" "" "VUS" "" "0000642880" "21" "90" "9" "6536222" "6536222" "subst" "0" "00006" "GLDC_000482" "g.6536222T>C" "" "{PMID:Lin 2018:29304759}, {DOI:Lin 2018:10.1186/s12881-017-0517-1}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6536222T>C" "" "pathogenic (recessive)" "" "0000642881" "11" "90" "9" "6620183" "6620320" "del" "0" "00006" "GLDC_000346" "g.(6610357_6620183)_(6620320_6644613)del" "" "{PMID:Lin 2018:29304759}, {DOI:Lin 2018:10.1186/s12881-017-0517-1}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(6610357_6620183)_(6620320_6644613)del" "" "pathogenic (recessive)" "" "0000652729" "1" "70" "9" "6550883" "6550883" "subst" "1.6243E-5" "03575" "GLDC_000066" "g.6550883G>A" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs386833560}" "Germline" "" "rs386833560" "0" "" "" "g.6550883G>A" "" "likely pathogenic" "" "0000652730" "1" "70" "9" "6553501" "6553501" "subst" "1.21874E-5" "03575" "GLDC_000063" "g.6553501T>C" "1/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs386833555}" "Germline" "" "rs386833555" "0" "" "" "g.6553501T>C" "" "likely pathogenic" "" "0000652731" "1" "30" "9" "6554781" "6554781" "subst" "0.00657303" "03575" "GLDC_000415" "g.6554781C>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs143119940}" "Germline" "" "rs143119940" "0" "" "" "g.6554781C>A" "" "likely benign" "" "0000652732" "1" "70" "9" "6587249" "6587249" "subst" "1.62438E-5" "03575" "GLDC_000110" "g.6587249G>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs772871471}" "Germline" "" "rs772871471" "0" "" "" "g.6587249G>C" "" "likely pathogenic" "" "0000656374" "0" "30" "9" "6610329" "6610329" "subst" "0.00131243" "01943" "GLDC_000443" "g.6610329A>G" "" "" "" "GLDC(NM_000170.2):c.498T>C (p.P166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6610329A>G" "" "likely benign" "" "0000656375" "0" "30" "9" "6620176" "6620176" "subst" "8.12269E-6" "01804" "GLDC_000483" "g.6620176T>C" "" "" "" "GLDC(NM_000170.2):c.470+8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6620176T>C" "" "likely benign" "" "0000673643" "0" "50" "9" "6604760" "6604760" "subst" "2.03198E-5" "00006" "GLDC_000485" "g.6604760G>T" "" "{PMID:Marcogliese 2018:30057031}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000673971" "2" "90" "9" "6604786" "6604786" "subst" "0" "03695" "GLDC_000486" "g.6604786T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000673972" "2" "90" "9" "6556257" "6556257" "subst" "0" "03695" "GLDC_000040" "g.6556257G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000678696" "0" "30" "9" "6554781" "6554781" "subst" "0.00657303" "02325" "GLDC_000415" "g.6554781C>A" "" "" "" "GLDC(NM_000170.2):c.2203G>T (p.V735L), GLDC(NM_000170.3):c.2203G>T (p.V735L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678697" "0" "50" "9" "6588629" "6588629" "subst" "0" "02325" "GLDC_000487" "g.6588629T>G" "" "" "" "GLDC(NM_000170.3):c.1654A>C (p.M552L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678699" "0" "30" "9" "6595126" "6595126" "subst" "0.00206617" "02326" "GLDC_000434" "g.6595126G>C" "" "" "" "GLDC(NM_000170.2):c.1156-7C>G, GLDC(NM_000170.3):c.1156-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678700" "0" "30" "9" "6604632" "6604632" "subst" "4.8746E-5" "01943" "GLDC_000489" "g.6604632T>C" "" "" "" "GLDC(NM_000170.2):c.1014A>G (p.E338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678701" "0" "30" "9" "6645269" "6645269" "subst" "1.75131E-5" "01943" "GLDC_000447" "g.6645269C>G" "" "" "" "GLDC(NM_000170.2):c.231G>C (p.E77D, p.(Glu77Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690565" "0" "70" "9" "6604591" "6604591" "subst" "0" "01943" "GLDC_000294" "g.6604591G>C" "" "" "" "GLDC(NM_000170.2):c.1055C>G (p.T352R), GLDC(NM_000170.3):c.1055C>G (p.T352R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690566" "0" "70" "9" "6644628" "6644628" "subst" "0" "01943" "GLDC_000490" "g.6644628A>C" "" "" "" "GLDC(NM_000170.2):c.320T>G (p.M107R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690567" "0" "50" "9" "6645410" "6645410" "subst" "0" "02325" "GLDC_000491" "g.6645410C>A" "" "" "" "GLDC(NM_000170.3):c.90G>T (p.W30C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000703985" "3" "70" "9" "6604735" "6604735" "subst" "0" "01164" "GLDC_000311" "g.6604735G>A" "" "{PMID:[26179960]}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000722544" "0" "50" "9" "6536219" "6536219" "subst" "0.00104065" "01943" "GLDC_000460" "g.6536219T>C" "" "" "" "GLDC(NM_000170.2):c.2683A>G (p.M895V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786876" "0" "90" "9" "6587205" "6587205" "subst" "1.21821E-5" "00006" "GLDC_000079" "g.6587205G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.6587205G>A" "" "pathogenic" "" "0000804164" "0" "30" "9" "6533116" "6533116" "subst" "0.00112505" "02326" "GLDC_000492" "g.6533116C>T" "" "" "" "GLDC(NM_000170.2):c.2964G>A (p.R988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804165" "0" "50" "9" "6536093" "6536093" "subst" "1.62538E-5" "02325" "GLDC_000493" "g.6536093G>A" "" "" "" "GLDC(NM_000170.3):c.2809C>T (p.R937C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804166" "0" "50" "9" "6553379" "6553379" "subst" "4.46769E-5" "02325" "GLDC_000494" "g.6553379C>T" "" "" "" "GLDC(NM_000170.3):c.2446G>A (p.A816T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804167" "0" "30" "9" "6558693" "6558693" "subst" "0.00182382" "01943" "GLDC_000420" "g.6558693T>C" "" "" "" "GLDC(NM_000170.2):c.1927-9A>G, GLDC(NM_000170.3):c.1927-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804168" "0" "30" "9" "6605121" "6605121" "subst" "0.000580777" "01943" "GLDC_000495" "g.6605121G>A" "" "" "" "GLDC(NM_000170.2):c.861+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804169" "0" "30" "9" "6606627" "6606627" "subst" "0.00108419" "01943" "GLDC_000473" "g.6606627G>A" "" "" "" "GLDC(NM_000170.2):c.678C>T (p.H226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804170" "0" "70" "9" "6610230" "6610230" "del" "0" "01943" "GLDC_000334" "g.6610230del" "" "" "" "GLDC(NM_000170.2):c.600delG (p.T201Lfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804171" "0" "30" "9" "6645460" "6645460" "subst" "0" "01943" "GLDC_000496" "g.6645460G>T" "" "" "" "GLDC(NM_000170.2):c.40C>A (p.R14S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852296" "0" "50" "9" "6533092" "6533092" "subst" "0.00123062" "01943" "GLDC_000497" "g.6533092C>G" "" "" "" "GLDC(NM_000170.2):c.2988G>C (p.Q996H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861718" "0" "30" "9" "6533125" "6533125" "subst" "0.000227461" "01943" "GLDC_000498" "g.6533125C>T" "" "" "" "GLDC(NM_000170.2):c.2955G>A (p.T985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861721" "0" "30" "9" "6610218" "6610218" "subst" "9.01588E-5" "01943" "GLDC_000499" "g.6610218G>A" "" "" "" "GLDC(NM_000170.2):c.609C>T (p.A203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877957" "0" "70" "9" "6554673" "6554673" "subst" "0" "03779" "GLDC_000061" "g.6554673C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs386833553" "0" "" "" "" "" "likely pathogenic" "" "0000882028" "3" "70" "9" "6605126" "6605126" "subst" "6.09191E-5" "00006" "GLDC_000500" "g.6605126C>T" "" "{PMID:Lessel 2014:24989684}" "" "" "" "Germline" "" "rs192663616" "0" "" "" "" "" "VUS" "" "0000888881" "0" "10" "9" "6533010" "6533010" "subst" "0.689998" "02327" "GLDC_000406" "g.6533010C>G" "" "" "" "GLDC(NM_000170.2):c.*7G>C, GLDC(NM_000170.3):c.*7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000902685" "3" "90" "9" "6606598" "6606598" "subst" "1.21825E-5" "04120" "GLDC_000502" "g.6606598C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6606598C>T" "" "likely pathogenic (recessive)" "ACMG" "0000909000" "3" "50" "9" "6540109" "6540109" "subst" "8.5293E-5" "00006" "GLDC_000105" "g.6540109G>T" "" "{PMID:Paul 2023:36528028}, {DOI:Paul 2023:10.1016/j.ajhg.2022.11.011}" "" "" "" "Germline" "" "" "0" "" "" "g.6540109G>T" "" "VUS" "" "0000978742" "0" "70" "9" "6533142" "6533142" "subst" "1.62473E-5" "01804" "GLDC_000405" "g.6533142T>C" "" "" "" "GLDC(NM_000170.3):c.2938A>G (p.(Asn980Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978743" "0" "30" "9" "6553497" "6553497" "subst" "0.00030053" "02326" "GLDC_000503" "g.6553497G>A" "" "" "" "GLDC(NM_000170.2):c.2328C>T (p.L776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978744" "0" "30" "9" "6553522" "6553522" "del" "0" "01804" "GLDC_000504" "g.6553522del" "" "" "" "GLDC(NM_000170.3):c.2316-6del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978745" "0" "50" "9" "6556208" "6556208" "subst" "0.000235556" "01804" "GLDC_000190" "g.6556208A>T" "" "" "" "GLDC(NM_000170.2):c.2147T>A (p.(Leu716His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978748" "0" "10" "9" "6589267" "6589267" "subst" "0.00314713" "01804" "GLDC_000426" "g.6589267T>G" "" "" "" "GLDC(NM_000170.2):c.1508A>C (p.E503A), GLDC(NM_000170.3):c.1508A>C (p.(Glu503Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978749" "0" "50" "9" "6589288" "6589293" "del" "0" "01804" "GLDC_000427" "g.6589288_6589293del" "" "" "" "GLDC(NM_000170.2):c.1484_1489delAACTGG (p.E495_L496del), GLDC(NM_000170.3):c.1484_1489del (p.(Glu495_Leu496del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989500" "10" "90" "9" "6540077" "6540077" "subst" "0" "04738" "GLDC_000505" "g.6540077T>C" "" "" "" "D880G" "" "Germline" "" "" "0" "" "" "g.6540077T>C" "" "pathogenic" "" "0000997917" "0" "30" "9" "6536172" "6536172" "subst" "0.00062268" "02326" "GLDC_000506" "g.6536172C>T" "" "" "" "GLDC(NM_000170.2):c.2730G>A (p.S910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014559" "0" "10" "9" "6544655" "6544658" "del" "0" "02326" "GLDC_000507" "g.6544655_6544658del" "" "" "" "GLDC(NM_000170.2):c.2570-4496_2570-4493delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037558" "0" "70" "9" "6534775" "6534775" "subst" "0.000329349" "01804" "GLDC_000373" "g.6534775G>T" "" "" "" "GLDC(NM_000170.3):c.2852C>A (p.(Ser951Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037559" "0" "10" "9" "6544657" "6544658" "del" "0" "02326" "GLDC_000508" "g.6544657_6544658del" "" "" "" "GLDC(NM_000170.2):c.2570-4494_2570-4493delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037560" "0" "10" "9" "6544658" "6544658" "del" "0" "02326" "GLDC_000509" "g.6544658del" "" "" "" "GLDC(NM_000170.2):c.2570-4493delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037561" "0" "50" "9" "6554754" "6554754" "subst" "8.59085E-5" "01804" "GLDC_000451" "g.6554754C>T" "" "" "" "GLDC(NM_000170.3):c.2230G>A (p.(Gly744Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037562" "0" "50" "9" "6556218" "6556218" "subst" "4.06134E-6" "01804" "GLDC_000510" "g.6556218C>T" "" "" "" "GLDC(NM_000170.3):c.2137G>A (p.(Val713Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037563" "0" "30" "9" "6595126" "6595126" "subst" "0.00206617" "01804" "GLDC_000434" "g.6595126G>C" "" "" "" "GLDC(NM_000170.2):c.1156-7C>G, GLDC(NM_000170.3):c.1156-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037564" "0" "50" "9" "6645310" "6645310" "subst" "0.000119083" "01804" "GLDC_000511" "g.6645310C>T" "" "" "" "GLDC(NM_000170.3):c.190G>A (p.(Ala64Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037565" "0" "50" "9" "6645376" "6645376" "subst" "0.000110008" "01804" "GLDC_000512" "g.6645376C>T" "" "" "" "GLDC(NM_000170.3):c.124G>A (p.(Gly42Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046207" "0" "30" "9" "6544656" "6544658" "del" "0" "02326" "GLDC_000513" "g.6544656_6544658del" "" "" "" "GLDC(NM_000170.2):c.2570-4495_2570-4493delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 GLDC ## Count = 1189 "{{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}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "0000001574" "00000282" "99" "1691" "0" "1691" "0" "c.1691G>T" "r.1691g>u" "p.Ser564Ile" "14" "" "0000001575" "00000282" "99" "2267" "0" "2269" "0" "c.2267_2269del" "r.(?)" "p.(Phe756del)" "19" "" "0000001576" "00000282" "99" "-1" "0" "3064" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_25_" "" "0000001577" "00000282" "99" "-1" "0" "1926" "1" "c.(?_-1)_(1926+1_1927-1)del" "r.?" "p.?" "_1_16i" "" "0000001578" "00000282" "99" "-1" "0" "2052" "1" "c.(?_-1)_(2052+1_2053-1)del" "r.?" "p.?" "_1_17i" "" "0000001579" "00000282" "99" "-1" "0" "255" "1" "c.(?_-1)_(255+1_256-1)del" "r.?" "p.?" "_1_1i" "" "0000001580" "00000282" "99" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.?" "p.?" "_1_2i" "" "0000001581" "00000282" "99" "-1" "0" "470" "1" "c.(?_-1)_(470+1_471-1)del" "r.?" "p.?" "_1_3i" "" "0000001582" "00000282" "99" "2" "0" "2" "0" "c.2T>C" "r.2u>c" "p.(Met1?)" "1" "" "0000001583" "00000282" "99" "28" "0" "28" "0" "c.28del" "r.(?)" "p.(Leu10Cysfs*81)" "1" "" "0000001585" "00000282" "77" "176" "0" "176" "0" "c.176G>C" "r.(176g>c)" "p.(Arg59Thr)" "1" "" "0000001586" "00000282" "77" "255" "1" "255" "1" "c.255+1G>A" "r.spl?" "p.?" "1i" "" "0000001587" "00000282" "99" "335" "-1" "1155" "1" "c.(334+1_335-1)_(1155+1_1156-1)del" "r.?" "p.?" "2i_8i" "" "0000001588" "00000282" "99" "335" "-1" "1261" "1" "c.(334+1_335-1)_(1261+1_1262-1)del" "r.?" "p.?" "2i_9i" "" "0000001589" "00000282" "99" "335" "-1" "1850" "1" "c.(334+1_335-1)_(1850+1_1851-1)del" "r.335_1850del" "p.(Cys112Serfs*17)" "2i_15i" "" "0000001590" "00000282" "99" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000001591" "00000282" "99" "335" "-1" "635" "1" "c.(334+1_335-1)_(635+1_636-1)del" "r.?" "p.?" "2i_4i" "" "0000001592" "00000282" "99" "335" "-1" "2665" "1" "c.(334+1_335-1)_(2665+1_2666-1)del" "r.?" "p.?" "2i_22i" "" "0000001593" "00000282" "77" "395" "0" "395" "0" "c.395C>G" "r.(395c>g)" "p.(Ser132Trp)" "3" "" "0000001594" "00000282" "77" "413" "0" "413" "0" "c.413A>T" "r.(413a>u)" "p.(Tyr138Phe)" "3" "" "0000001604" "00000282" "99" "449" "0" "449" "0" "c.449A>C" "r.449a>c" "p.Asn150Thr" "3" "" "0000001605" "00000282" "99" "636" "-1" "1155" "1" "c.(635+1_636-1)_(1155+1_1156-1)del" "r.?" "p.? " "4i_8i" "" "0000001606" "00000282" "99" "457" "0" "457" "0" "c.457G>T" "r.(457g>u)" "p.(Glu153*)" "3" "" "0000001607" "00000282" "97" "482" "0" "482" "0" "c.482A>G" "r.(482a>g)" "p.(Tyr161Cys)" "4" "" "0000001608" "00000282" "99" "471" "-1" "3064" "0" "c.(470+1_471-1)_(*1_?)del" "r.?" "p.?" "3i_25_" "" "0000001609" "00000282" "73" "513" "0" "513" "0" "c.513G>C" "r.(513g>c)" "p.(=)" "4" "" "0000001610" "00000282" "77" "560" "0" "560" "0" "c.560C>A" "r.(560c>a)" "p.(Thr187Lys)" "4" "" "0000001611" "00000282" "77" "605" "0" "605" "0" "c.605C>T" "r.(605c>u)" "p.(Ala202Val)" "4" "" "0000001612" "00000282" "77" "635" "0" "635" "0" "c.635G>A" "r.[635g>a, spl?]" "p.[Arg212Lys, p.?]" "4" "" "0000001613" "00000282" "99" "706" "0" "706" "0" "c.706C>T" "r.(706c>u)" "p.(Arg236*)" "5" "" "0000001614" "00000282" "99" "793" "0" "793" "0" "c.793del" "r.(?)" "p.(Gln265Serfs*33)" "6" "" "0000001615" "00000282" "77" "806" "0" "806" "0" "c.806C>T" "r.(806c>u)" "p.(Thr269Met)" "6" "" "0000001616" "00000282" "99" "808" "0" "808" "0" "c.808G>T" "r.(808g>u)" "p.(Glu270*)" "6" "" "0000001617" "00000282" "77" "847" "0" "847" "0" "c.847G>C" "r.(847g>c)" "p.(Ala283Pro)" "6" "" "0000001618" "00000282" "77" "937" "0" "937" "0" "c.937G>C" "r.(937g>c)" "p.(Ala313Pro)" "7" "" "0000001619" "00000282" "77" "861" "1" "861" "1" "c.861+1G>T" "r.spl?" "p.?" "6i" "" "0000001620" "00000282" "77" "985" "0" "985" "0" "c.985C>A" "r.(985c>a)" "p.(Pro329Thr)" "7" "" "0000001621" "00000282" "99" "1054" "0" "1054" "0" "c.1054del" "r.(1054del)" "p.(Thr352Glnfs*65)" "7" "" "0000001622" "00000282" "71" "1229" "0" "1229" "0" "c.1229G>A" "r.(1229g>a)" "p.(Arg410Lys)" "9" "" "0000001623" "00000282" "77" "2098" "0" "2098" "0" "c.2098C>G" "r.(2098c>g)" "p.(Pro700Ala)" "18" "" "0000001624" "00000282" "77" "2203" "-2" "2203" "-2" "c.2203-2A>G" "r.spl?" "p.?" "18i" "" "0000001625" "00000282" "77" "2284" "0" "2284" "0" "c.2284G>A" "r.(2284g>a)" "p.(Gly762Arg)" "19" "" "0000001627" "00000282" "99" "1059" "-644" "1155" "4020" "c.1059-644_1155+4020del" "r.(1059_1155del)" "p.(Asp354Profs*31)" "7i_8i" "" "0000001628" "00000282" "99" "2656" "0" "2656" "0" "c.2656C>T" "r.(2656c>u)" "p.(Gln886*)" "22" "" "0000001629" "00000282" "77" "1545" "0" "1545" "0" "c.1545G>C" "r.(1545g>c)" "p.(Arg515Ser)" "12" "" "0000001630" "00000282" "77" "887" "0" "887" "0" "c.887T>G" "r.(887u>g)" "p.(Leu296Arg)" "7" "" "0000001631" "00000282" "99" "1002" "0" "1002" "0" "c.1002dup" "r.(1002dup)" "p.(Ala335Cysfs*75)" "7" "" "0000001632" "00000282" "99" "1009" "0" "1009" "0" "c.1009C>T" "r.(1009c>u)" "p.(Arg337*)" "7" "" "0000001633" "00000282" "77" "1117" "0" "1117" "0" "c.1117C>T" "r.(1117c>u)" "p.(Arg373Trp)" "8" "" "0000001634" "00000282" "99" "1270" "0" "1270" "0" "c.1270C>T" "r.(1270c>u)" "p.(Arg424*)" "10" "" "0000001635" "00000282" "99" "1285" "0" "1286" "0" "c.1285_1286insCAAA" "r.(1285_1286inscaaa)" "p.(Leu429Profs*5)" "10" "" "0000001636" "00000282" "77" "1319" "0" "1319" "0" "c.1319T>A" "r.(1319u>a)" "p.(Ile440Asn)" "10" "" "0000001637" "00000282" "77" "1382" "0" "1382" "0" "c.1382G>A" "r.(1382g>a)" "p.(Arg461Gln)" "10" "" "0000001638" "00000282" "77" "1597" "0" "1597" "0" "c.1597A>T" "r.(1597a>u)" "p.(Asn533Tyr)" "13" "" "0000001639" "00000282" "77" "1931" "0" "1931" "0" "c.1931G>T" "r.(1931g>u)" "p.(Cys644Phe)" "17" "" "0000001640" "00000282" "77" "1952" "0" "1952" "0" "c.1952A>G" "r.(1952a>g)" "p.(His651Arg)" "17" "" "0000001641" "00000282" "71" "2113" "0" "2113" "0" "c.2113G>A" "r.(2113g>a)" "p.(Val705Met)" "18" "" "0000001642" "00000282" "99" "2153" "0" "2155" "0" "c.2153_2155delinsTCCTGGTTTA" "r.(2153_2155delinsuccugguuua)" "p.(His718Leufs*4)" "18" "" "0000001643" "00000282" "99" "2186" "0" "2186" "0" "c.2186del" "r.(?)" "p.(Ala729Glufs*3)" "18" "" "0000001644" "00000282" "77" "2196" "0" "2196" "0" "c.2196T>A" "r.(2196u>a)" "p.(Asn732Lys)" "18" "" "0000001645" "00000282" "77" "2311" "0" "2311" "0" "c.2311G>A" "r.(2311g>a)" "p.(Gly771Arg)" "19" "" "0000001646" "00000282" "77" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000001647" "00000282" "77" "2324" "0" "2324" "0" "c.2324A>G" "r.(2324a>g)" "p.(His775Arg)" "20" "" "0000001648" "00000282" "77" "1402" "-1" "1402" "-1" "c.1402-1G>C" "r.spl?" "p.?" "10i" "" "0000001649" "00000282" "99" "2422" "0" "2422" "0" "c.2422del" "r.(?)" "p.(Ser808Valfs*13)" "20" "" "0000001650" "00000282" "77" "2489" "0" "2489" "0" "c.2489C>T" "r.(2489c>u)" "p.(Thr830Met)" "21" "" "0000001651" "00000282" "77" "2521" "0" "2521" "0" "c.2521G>C" "r.(2521g>c)" "p.(Ala841Pro)" "21" "" "0000001652" "00000282" "77" "2639" "0" "2639" "0" "c.2639A>T" "r.(2639a>u)" "p.(Asp880Val)" "22" "" "0000001653" "00000282" "77" "2838" "5" "2838" "5" "c.2838+5G>A" "r.spl?" "p.?" "23i" "" "0000001654" "00000282" "77" "2869" "0" "2869" "0" "c.2869T>C" "r.(2869u>c)" "p.(Ser957Pro)" "24" "" "0000001655" "00000282" "77" "2896" "0" "2896" "0" "c.2896A>G" "r.(2896a>g)" "p.(Arg966Gly)" "24" "" "0000001656" "00000282" "77" "2919" "1" "2919" "1" "c.2919+1G>A" "r.spl?" "p.?" "24i" "" "0000001657" "00000282" "99" "245" "0" "245" "0" "c.245T>G" "r.245u>g" "p.Leu82Trp" "1" "" "0000001658" "00000282" "77" "1111" "0" "1111" "0" "c.1111C>G" "r.(1111c>g)" "p.(His371Asp)" "8" "" "0000001659" "00000282" "99" "1156" "-1" "1261" "1" "c.(1155+1_1156-1)_(1261+1_1262-1)del" "r.(1156_1261del)" "p.(Ala386Valfs*18)" "8i_9i" "" "0000001660" "00000282" "99" "1444" "0" "1444" "0" "c.1444dup" "r.(?)" "p.(Asp482Glyfs*10)" "11" "" "0000001661" "00000282" "77" "1595" "0" "1595" "0" "c.1595C>G" "r.(1595c>g)" "p.(Thr532Arg)" "13" "" "0000001662" "00000282" "71" "1705" "0" "1705" "0" "c.1705G>A" "r.(1705g>a)" "p.(Ala569Thr)" "15" "" "0000001663" "00000282" "99" "1786" "0" "1786" "0" "c.1786C>T" "r.(1786c>u)" "p.(Arg596*)" "15" "" "0000001664" "00000282" "99" "1822" "0" "1832" "0" "c.1822_1832del" "r.(1821_1831del)" "p.(Tyr608Leufs*61)" "15" "" "0000001665" "00000282" "77" "1832" "0" "1832" "0" "c.1832T>G" "r.(1832u>g)" "p.(Val611Gly)" "15" "" "0000001666" "00000282" "77" "1926" "1" "1926" "1" "c.1926+1G>A" "r.spl?" "p.?" "16i" "" "0000001667" "00000282" "99" "1996" "0" "1996" "0" "c.1996C>T" "r.(1996c>u)" "p.(Gln666*)" "17" "" "0000001668" "00000282" "77" "2080" "0" "2080" "0" "c.2080G>C" "r.(2080g>c)" "p.(Ala694Pro)" "18" "" "0000001669" "00000282" "77" "2105" "0" "2105" "0" "c.2105C>T" "r.(2105c>u)" "p.(Thr702Ile)" "18" "" "0000001670" "00000282" "77" "2182" "0" "2182" "0" "c.2182G>C" "r.(2182g>c)" "p.(Gly728Arg)" "18" "" "0000001672" "00000282" "99" "2213" "0" "2214" "0" "c.2213_2214del" "r.(?)" "p.(Cys738Serfs*8)" "19" "" "0000001673" "00000282" "77" "2258" "0" "2258" "0" "c.2258A>C" "r.(2258a>c)" "p.(His753Pro)" "19" "" "0000001674" "00000282" "77" "2293" "0" "2293" "0" "c.2293C>T" "r.(2293c>u)" "p.(Pro765Ser)" "19" "" "0000001675" "00000282" "77" "2306" "0" "2306" "0" "c.2306C>T" "r.(2306c>u)" "p.(Pro769Leu)" "19" "" "0000001676" "00000282" "77" "2519" "0" "2519" "0" "c.2519T>A" "r.(2519u>a)" "p.(Met840Lys)" "21" "" "0000001677" "00000282" "77" "2368" "0" "2368" "0" "c.2368C>T" "r.(2368c>u)" "p.(Arg790Trp)" "20" "" "0000001678" "00000282" "99" "2574" "0" "2574" "0" "c.2574T>G" "r.(2574u>g)" "p.(Tyr858*)" "22" "" "0000001679" "00000282" "77" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000001680" "00000282" "77" "2714" "0" "2714" "0" "c.2714T>G" "r.(2714u>g)" "p.(Val905Gly)" "23" "" "0000001681" "00000282" "77" "2839" "-1" "2839" "-1" "c.2839-1G>C" "r.spl?" "p.?" "23i" "" "0000001682" "00000282" "77" "2846" "0" "2846" "0" "c.2846C>T" "r.(2846c>u)" "p.(Pro949Leu)" "24" "" "0000001683" "00000282" "99" "2891" "0" "2891" "0" "c.2891dup" "r.(?)" "p.(Tyr964*)" "24" "" "0000001684" "00000282" "77" "1166" "0" "1166" "0" "c.1166C>T" "r.(1166c>u)" "p.(Ala389Val)" "9" "" "0000001685" "00000282" "99" "1483" "-1" "1850" "1" "c.(1482+1_1483-1)_(1850+1_1851-1)del" "r.(1483_1850del)" "p.(Glu495Argfs*55)" "11i_15i" "" "0000001686" "00000282" "77" "1654" "0" "1654" "0" "c.1654A>G" "r.(1654a>g)" "p.(Met552Val)" "13" "" "0000001687" "00000282" "77" "2281" "0" "2281" "0" "c.2281G>A" "r.(2281g>a)" "p.(Gly761Arg)" "19" "" "0000001688" "00000282" "77" "2405" "0" "2405" "0" "c.2405C>T" "r.(2405c>u)" "p.(Ala802Val)" "20" "" "0000001689" "00000282" "99" "2414" "0" "2414" "0" "c.2414G>A" "r.(2414g>a)" "p.(Trp805*)" "20" "" "0000001690" "00000282" "99" "2607" "0" "2607" "0" "c.2607C>A" "r.[=, spl]" "p.[=, ?]" "22" "" "0000016583" "00000282" "77" "2216" "0" "2216" "0" "c.2216G>A" "r.(2216g>a)" "p.(Arg739His)" "19" "" "0000016973" "00000282" "99" "1175" "0" "1175" "0" "c.1175del" "r.(1175del)" "p.(Ala392Valfs*25)" "9" "" "0000018112" "00000282" "77" "2296" "0" "2296" "0" "c.2296G>T" "r.(2296g>u)" "p.(Gly766Cys)" "19" "" "0000036142" "00000282" "77" "1859" "0" "1859" "0" "c.1859A>G" "r.(?)" "p.(Gln620Arg)" "15" "" "0000046797" "00000282" "77" "1742" "0" "1742" "0" "c.1742C>G" "r.(1742C>G)" "p.(Pro581Arg)" "15" "" "0000079484" "00000282" "00" "-1553500" "0" "6331976" "0" "c.-1553500_*6328913del" "r.0?" "p.0?" "" "" "0000117724" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000117725" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117726" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117727" "00000282" "90" "1160" "0" "1160" "0" "c.1160C>T" "r.(?)" "p.(Arg337*)" "9" "" "0000117728" "00000282" "90" "636" "-1" "636" "-1" "c.636-1G>C" "r.spl?" "p.?" "4i" "" "0000117729" "00000282" "90" "1156" "-1" "1261" "1" "c.(1155+1_1156-1)_(1261+1_1262-1)del" "r.?" "p.?" "8i_9i" "" "0000117730" "00000282" "90" "1851" "-1" "1851" "-1" "c.1851-1G>A" "r.spl?" "p.?" "15i" "" "0000117731" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117732" "00000282" "90" "2150" "0" "2150" "0" "c.2150T>A" "r.(?)" "p.(Ile717Asn)" "18" "" "0000117733" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000117734" "00000282" "90" "847" "0" "847" "0" "c.847G>C" "r.(?)" "p.(Ala283Pro)" "6" "" "0000117735" "00000282" "90" "-1" "0" "255" "1" "c.(?_-1)_(255+1_256-1)del" "r.0?" "p.0?" "_1_1i" "" "0000117736" "00000282" "90" "-1" "0" "1926" "1" "c.(?_-1)_(1926+1_1927-1)del" "r.0?" "p.0?" "_1_16i" "" "0000117737" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117738" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117739" "00000282" "90" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Gln734*)" "18" "" "0000117740" "00000282" "90" "2489" "0" "2489" "0" "c.2489C>A" "r.(?)" "p.(Thr830Lys)" "21" "" "0000117741" "00000282" "90" "636" "-1" "1155" "1" "c.(635+1_636-1)_(1155+1_1156-1)del" "r.?" "p.?" "4i_8i" "" "0000117742" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000117743" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117744" "00000282" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Arg236*)" "5" "" "0000117745" "00000282" "90" "2885" "0" "2885" "0" "c.2885G>C" "r.(?)" "p.(Arg962Pro)" "24" "" "0000117746" "00000282" "90" "256" "-3" "256" "-3" "c.256-3T>G" "r.spl?" "p.?" "1i" "" "0000117747" "00000282" "90" "2147" "0" "2147" "0" "c.2147T>A" "r.(?)" "p.(Leu716His)" "18" "" "0000117748" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117749" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117753" "00000282" "90" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Gln370*)" "8" "" "0000117754" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000117755" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117756" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117757" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117758" "00000282" "90" "334" "5" "334" "5" "c.334+5G>A" "r.spl?" "p.?" "2i" "" "0000117759" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117760" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117761" "00000282" "90" "335" "-1" "1850" "1" "c.(334+1_335-1)_(1850+1_1851-1)dup" "r.?" "p.?" "2i_15i" "" "0000117762" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117763" "00000282" "90" "2315" "2" "2315" "2" "c.2315+2T>A" "r.spl?" "p.?" "19i" "" "0000117764" "00000282" "90" "24" "0" "24" "0" "c.24G>A" "r.(?)" "p.(Trp8*)" "1" "" "0000117765" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117766" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117767" "00000282" "90" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Leu562Pro)" "14" "" "0000117768" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000117769" "00000282" "90" "2203" "-2" "2203" "-2" "c.2203-2A>G" "r.spl?" "p.?" "18i" "" "0000117770" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000117771" "00000282" "90" "335" "-1" "1155" "1" "c.(334+1_335-1)_(1155+1_1156-1)del" "r.?" "p.?" "2i_8i" "" "0000117772" "00000282" "90" "2920" "-1" "3063" "1" "c.(2919+1_2920-1)_(3063+1_?)del" "r.?" "p.?" "24i_25_" "" "0000117773" "00000282" "90" "1180" "0" "1180" "0" "c.1180del" "r.(?)" "p.(Met394Cysfs*23)" "9" "" "0000117774" "00000282" "90" "2919" "5" "2919" "5" "c.2919+5G>T" "r.spl?" "p.?" "24i" "" "0000117775" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117776" "00000282" "90" "1580" "2" "1580" "2" "c.1580+2T>G" "r.spl?" "p.?" "12i" "" "0000117777" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117779" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000117781" "00000282" "90" "1896" "0" "1896" "0" "c.1896C>G" "r.(?)" "p.(Tyr632*)" "16" "" "0000117782" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117783" "00000282" "90" "1850" "1" "1850" "1" "c.1850+1G>T" "r.spl?" "p.?" "15i" "" "0000117784" "00000282" "90" "-1" "0" "470" "1" "c.(?_-1)_(470+1_471-1)del" "r.0?" "p.0?" "_1_3i" "" "0000117785" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000117786" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117787" "00000282" "90" "2570" "-1" "3063" "1" "c.(2569+1_2570-1)_(3063+1_?)del" "r.?" "p.?" "21i_25_" "" "0000117788" "00000282" "90" "2885" "0" "2885" "0" "c.2885G>C" "r.(?)" "p.(Arg962Pro)" "24" "" "0000117789" "00000282" "90" "1888" "0" "1888" "0" "c.1888C>T" "r.(?)" "p.(Arg630*)" "16" "" "0000117790" "00000282" "90" "861" "2" "861" "2" "c.861+2T>C" "r.spl?" "p.?" "6i" "" "0000117791" "00000282" "90" "2524" "0" "2524" "0" "c.2524A>T" "r.(?)" "p.(Lys842*)" "21" "" "0000117792" "00000282" "90" "471" "-1" "1155" "1" "c.(470+1_471-1)_(1155+1_1156-1)del" "r.?" "p.?" "3i_8i" "" "0000117793" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117794" "00000282" "90" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "19" "" "0000117797" "00000282" "90" "1148" "0" "1148" "0" "c.1148C>T" "r.(?)" "p.(Thr383Ile)" "8" "" "0000117798" "00000282" "90" "355" "0" "362" "0" "c.355_362del" "r.(?)" "p.(Thr119Cysfs*19)" "3" "" "0000117799" "00000282" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Ser)" "15" "" "0000117800" "00000282" "90" "-1" "0" "2569" "1" "c.(?_-1)_(2569+1_2570-1)del" "r.0?" "p.0?" "_1_21i" "" "0000117801" "00000282" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ser132Leu)" "3" "" "0000117802" "00000282" "90" "2458" "-2" "2458" "-2" "c.2458-2A>G" "r.spl?" "p.?" "20i" "" "0000117803" "00000282" "90" "1969" "0" "1969" "0" "c.1969A>C" "r.(?)" "p.(Ser657Arg)" "17" "" "0000117804" "00000282" "90" "847" "0" "847" "0" "c.847G>C" "r.(?)" "p.(Ala283Pro)" "6" "" "0000117805" "00000282" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Pro893Leu)" "23" "" "0000117806" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117807" "00000282" "90" "1678" "0" "1678" "0" "c.1678A>G" "r.(?)" "p.(Met560Val)" "14" "" "0000117808" "00000282" "90" "335" "-1" "3063" "1" "c.(334+1_335-1)_(3063+1_3064-1)del" "r.?" "p.?" "2i_25_" "" "0000117811" "00000282" "90" "1896" "0" "1896" "0" "c.1896C>A" "r.(?)" "p.(Tyr632*)" "16" "" "0000117812" "00000282" "90" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(Arg739His)" "19" "" "0000117813" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117814" "00000282" "90" "2019" "0" "2019" "0" "c.2019T>A" "r.(?)" "p.(Tyr673*)" "17" "" "0000117815" "00000282" "90" "1444" "0" "1444" "0" "c.1444del" "r.(?)" "p.(Asp482Thrfs*57)" "11" "" "0000117817" "00000282" "90" "-1" "0" "635" "1" "c.(?_-1)_(635+1_636-1)del" "r.0?" "p.0?" "_1_4i" "" "0000117818" "00000282" "90" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "4" "" "0000117819" "00000282" "90" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Pro267Leu)" "6" "" "0000117820" "00000282" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ser132Leu)" "3" "" "0000117821" "00000282" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ser132Leu)" "3" "" "0000117823" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000117825" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000117827" "00000282" "90" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Thr437Ile)" "10" "" "0000117829" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000117830" "00000282" "90" "2919" "1" "2919" "1" "c.2919+1G>A" "r.spl" "p.?" "24i" "" "0000117831" "00000282" "90" "1580" "2" "1580" "2" "c.1580+2T>G" "r.spl?" "p.?" "12i" "" "0000117832" "00000282" "90" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Gly994Arg)" "25" "" "0000117833" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000117834" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000117835" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000117836" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117837" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "6" "" "0000117838" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000117840" "00000282" "90" "-1" "0" "255" "1" "c.(?_-1)_(255+1_256-1)del" "r.0?" "p.0?" "_1_1i" "" "0000117841" "00000282" "90" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Cys291Tyr)" "7" "" "0000117842" "00000282" "90" "1078" "0" "1078" "0" "c.1078G>C" "r.(?)" "p.(Val360Leu)" "8" "" "0000117843" "00000282" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000117844" "00000282" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Ser)" "15" "" "0000117845" "00000282" "90" "2186" "0" "2186" "0" "c.2186del" "r.(?)" "p.(Ala729Glufs*3)" "18" "" "0000117846" "00000282" "90" "2481" "0" "2484" "0" "c.2481_2484del" "r.(?)" "p.(Gln828Profs*7)" "21" "" "0000117847" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000117848" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117849" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000117850" "00000282" "90" "2183" "0" "2183" "0" "c.2183G>A" "r.(?)" "p.(Gly728Glu)" "18" "" "0000117853" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117854" "00000282" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Trp)" "10" "" "0000117857" "00000282" "90" "-1" "0" "2919" "1" "c.(?_-1)_(2919+1_2920-1)del" "r.0?" "p.0?" "_1_24i" "" "0000117858" "00000282" "90" "-1" "0" "3063" "1" "c.(?_-1)_(3063+1_?)del" "r.0?" "p.0?" "_1_25_" "" "0000117859" "00000282" "90" "-1" "0" "635" "1" "c.(?_-1)_(635+1_636-1)del" "r.0?" "p.0?" "_1_4i" "" "0000117860" "00000282" "90" "729" "0" "729" "0" "c.729del" "r.(?)" "p.(Thr244Leufs*3)" "6" "" "0000117861" "00000282" "90" "1955" "0" "1955" "0" "c.1955G>A" "r.(?)" "p.(Gly652Glu)" "17" "" "0000117862" "00000282" "90" "2665" "2" "2665" "2" "c.2665+2T>C" "r.spl?" "p.?" "22i" "" "0000117863" "00000282" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Arg236*)" "5" "" "0000117864" "00000282" "90" "2999" "0" "2999" "0" "c.2999del" "r.(?)" "p.(Cys1000Leufs*31)" "25" "" "0000117865" "00000282" "90" "2798" "0" "2798" "0" "c.2798T>C" "r.(?)" "p.(Ile933Thr)" "23" "" "0000117866" "00000282" "90" "1751" "0" "1751" "0" "c.1751C>G" "r.(?)" "p.(Pro581Arg)" "15" "" "0000117867" "00000282" "90" "2422" "0" "2422" "0" "c.2422A>C" "r.(?)" "p.(Ser808Arg)" "20" "" "0000117868" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000117869" "00000282" "90" "471" "-1" "635" "1" "c.(470+1_471-1)_(635+1_636-1)del" "r.?" "p.?" "3i_4i" "" "0000117870" "00000282" "90" "-1" "0" "255" "1" "c.(?_-1)_(255+1_256-1)del" "r.0?" "p.0?" "_1_1i" "" "0000117871" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000117872" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "10" "" "0000117873" "00000282" "90" "2777" "0" "2780" "0" "c.2777_2780delinsACAGA" "r.(?)" "p.(Ile926Asnfs*6)" "23" "" "0000117874" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117875" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "6" "" "0000117876" "00000282" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ser132Leu)" "3" "" "0000117877" "00000282" "90" "-1" "0" "2052" "1" "c.(?_-1)_(2052+1_2053-1)del" "r.0?" "p.0?" "_1_17i" "" "0000117878" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000117879" "00000282" "90" "2849" "0" "2849" "0" "c.2849A>G" "r.(?)" "p.(His950Arg)" "24" "" "0000117880" "00000282" "90" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "19" "" "0000117881" "00000282" "90" "2584" "0" "2584" "0" "c.2584G>A" "r.(?)" "p.(Glu862Lys)" "22" "" "0000117882" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000117883" "00000282" "90" "-1" "0" "470" "1" "c.(?_-1)_(470+1_471-1)del" "r.0?" "p.0?" "_1_3i" "" "0000117884" "00000282" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Pro893Leu)" "23" "" "0000117885" "00000282" "90" "2838" "5" "2838" "5" "c.2838+5G>T" "r.(?)" "p.?" "23i" "" "0000117886" "00000282" "90" "334" "1" "334" "1" "c.334+1G>T" "r.spl?" "p.?" "2i" "" "0000117887" "00000282" "90" "547" "0" "547" "0" "c.547del" "r.(?)" "p.(Val183Cysfs*48)" "4" "" "0000117890" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117896" "00000282" "90" "412" "0" "412" "0" "c.412T>G" "r.(?)" "p.(Tyr138Asp)" "3" "" "0000117897" "00000282" "90" "594" "0" "594" "0" "c.594T>A" "r.(?)" "p.(Asp198Glu)" "4" "" "0000117898" "00000282" "90" "-1" "0" "470" "1" "c.(?_-1)_(470+1_471-1)del" "r.0?" "p.0?" "_1_3i" "" "0000117899" "00000282" "90" "1078" "0" "1078" "0" "c.1078G>C" "r.(?)" "p.(Val360Leu)" "8" "" "0000117900" "00000282" "90" "1059" "-1" "1850" "1" "c.(1058+1_1059-1)_(1850+1_1851-1)del" "r.?" "p.?" "7i_15i" "" "0000117902" "00000282" "90" "-1" "0" "635" "1" "c.(?_-1)_(635+1_636-1)del" "r.0?" "p.0?" "_1_4i" "" "0000117903" "00000282" "90" "471" "-1" "1850" "1" "c.(470+1_471-1)_(1850+1_1851-1)del" "r.?" "p.?" "3i_15i" "" "0000117904" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000117905" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117906" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000117907" "00000282" "90" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "19" "" "0000117908" "00000282" "90" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Gly171Trp)" "4" "" "0000117909" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117910" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>C" "r.(?)" "p.(Val905Gly)" "23" "" "0000117911" "00000282" "90" "2631" "0" "2639" "0" "c.2631_2639del" "r.(?)" "p.(Glu877_879del)" "22" "" "0000117912" "00000282" "90" "2196" "0" "2196" "0" "c.2196T>A" "r.(?)" "p.(Asn732Lys)" "18" "" "0000117913" "00000282" "90" "2408" "0" "2408" "0" "c.2408C>T" "r.(?)" "p.(Ala803Val)" "20" "" "0000117914" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000117915" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117916" "00000282" "90" "1342" "0" "1342" "0" "c.1342G>T" "r.(?)" "p.(Glu448*)" "10" "" "0000117917" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000117918" "00000282" "90" "2846" "0" "2846" "0" "c.2846C>T" "r.(?)" "p.(Pro949Leu)" "24" "" "0000117919" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000117920" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117921" "00000282" "90" "1742" "0" "1742" "0" "c.1742C>G" "r.(?)" "p.(Pro581Arg)" "15" "" "0000117922" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117923" "00000282" "90" "851" "0" "851" "0" "c.851A>C" "r.(?)" "p.(His284Pro)" "6" "" "0000117925" "00000282" "90" "1822" "0" "1822" "0" "c.1822T>G" "r.(?)" "p.(Tyr608Asp)" "15" "" "0000117928" "00000282" "90" "2614" "0" "2614" "0" "c.2614A>T" "r.(?)" "p.(Lys872*)" "22" "" "0000117930" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117931" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117933" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>G" "r.(?)" "p.(Val905Gly)" "23" "" "0000117934" "00000282" "90" "2455" "0" "2455" "0" "c.2455A>G" "r.(?)" "p.(Lys819Glu)" "20" "" "0000117935" "00000282" "90" "1194" "0" "1194" "0" "c.1194C>A" "r.(?)" "p.(Tyr398*)" "9" "" "0000117936" "00000282" "90" "636" "-1" "713" "1" "c.(635+1_636-1)_(713+1_714-1)del" "r.?" "p.?" "4i_5i" "" "0000117937" "00000282" "90" "128" "0" "128" "0" "c.128del" "r.(?)" "p.(Asp43Alafs*48)" "1" "" "0000117938" "00000282" "90" "2403" "0" "2405" "0" "c.2403_2405dup" "r.(?)" "p.(Ala803dup)" "20" "" "0000117939" "00000282" "90" "-1" "0" "2052" "1" "c.(?_-1)_(2052+1_2053-1)del" "r.0?" "p.0?" "_1_17i" "" "0000117940" "00000282" "90" "2361" "0" "2361" "0" "c.2361A>G" "r.(?)" "p.(Ser787Ser)" "20" "" "0000117943" "00000282" "90" "1142" "0" "1142" "0" "c.1142T>C" "r.(?)" "p.(Ile381Thr)" "8" "" "0000117945" "00000282" "90" "437" "0" "437" "0" "c.437C>A" "r.(?)" "p.(Thr146Lys)" "3" "" "0000117947" "00000282" "90" "1869" "0" "1869" "0" "c.1869T>G" "r.(?)" "p.(Tyr623*)" "16" "" "0000117949" "00000282" "90" "335" "-1" "3063" "1" "c.(334+1_335-1)_(3063+1_3064-1)del" "r.?" "p.?" "2i_25_" "" "0000117950" "00000282" "90" "24" "0" "24" "0" "c.24G>A" "r.(?)" "p.(Trp8*)" "1" "" "0000117951" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000117953" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117954" "00000282" "90" "2422" "0" "2422" "0" "c.2422A>C" "r.(?)" "p.(Ser808Arg)" "20" "" "0000117956" "00000282" "90" "2380" "0" "2399" "0" "c.2380_2399del" "r.(?)" "p.(Ala794Glnfs*27)" "20" "" "0000117957" "00000282" "90" "391" "0" "391" "0" "c.391A>T" "r.(?)" "p.(Arg131*)" "3" "" "0000117959" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000117960" "00000282" "90" "1652" "0" "1652" "0" "c.1652G>T" "r.(?)" "p.(Ser551Ile)" "13" "" "0000117961" "00000282" "90" "2901" "0" "2901" "0" "c.2901G>C" "r.(?)" "p.(Glu967Asp)" "24" "" "0000117962" "00000282" "90" "1580" "2" "1580" "2" "c.1580+2T>G" "r.spl?" "p.?" "12i" "" "0000117963" "00000282" "90" "2798" "0" "2798" "0" "c.2798T>C" "r.(?)" "p.(Ile933Thr)" "23" "" "0000117964" "00000282" "90" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Tyr161Cys)" "4" "" "0000117966" "00000282" "90" "2315" "2" "2315" "2" "c.2315+2T>G" "r.spl?" "p.?" "19i" "" "0000117967" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000117968" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117969" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000117970" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000117971" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117973" "00000282" "90" "1183" "0" "1183" "0" "c.1183T>A" "r.(?)" "p.(Phe395Ile)" "9" "" "0000117974" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117975" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000117976" "00000282" "90" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "19" "" "0000117977" "00000282" "90" "1108" "0" "1108" "0" "c.1108C>A" "r.(?)" "p.(Gln370Lys)" "8" "" "0000117978" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "6" "" "0000117979" "00000282" "90" "2919" "1" "2919" "1" "c.2919+1G>A" "r.spl" "p.?" "24i" "" "0000117980" "00000282" "90" "1665" "1" "1665" "1" "c.1665+1G>A" "r.spl?" "p.?" "14i" "" "0000117981" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000117982" "00000282" "90" "1054" "0" "1054" "0" "c.1054del" "r.(?)" "p.(Thr352GlnfsTer65)" "7" "" "0000117983" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000117984" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000117985" "00000282" "90" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Cys382Tyr)" "8" "" "0000117986" "00000282" "90" "391" "0" "391" "0" "c.391A>T" "r.(?)" "p.(Arg131*)" "3" "" "0000117987" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000117988" "00000282" "90" "582" "0" "589" "0" "c.582_589del" "r.(?)" "p.(Ser195Glyfs*2)" "4" "" "0000117989" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000117990" "00000282" "90" "1889" "0" "1889" "0" "c.1889G>C" "r.(?)" "p.(Arg630Pro)" "16" "" "0000117991" "00000282" "90" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "19" "" "0000117992" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>G" "r.(?)" "p.(Val905Gly)" "23" "" "0000117993" "00000282" "90" "747" "0" "747" "0" "c.747del" "r.(?)" "p.(Cys250Valfs*48)" "6" "" "0000117994" "00000282" "90" "2203" "-2" "2203" "-2" "c.2203-2A>G" "r.spl?" "p.?" "18i" "" "0000117995" "00000282" "90" "466" "0" "466" "0" "c.466G>C" "r.(?)" "p.(Gly156Arg)" "3" "" "0000117996" "00000282" "90" "2755" "0" "2755" "0" "c.2755T>A" "r.(?)" "p.(Phe919Ile)" "23" "" "0000117997" "00000282" "90" "-1" "0" "635" "1" "c.(?_-1)_(635+1_636-1)del" "r.0?" "p.0?" "_1_4i" "" "0000117998" "00000282" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ser132Leu)" "3" "" "0000117999" "00000282" "90" "1738" "0" "1738" "0" "c.1738C>G" "r.(?)" "p.(His580Asp)" "15" "" "0000118000" "00000282" "90" "2665" "2" "2665" "2" "c.2665+2T>C" "r.spl?" "p.?" "22i" "" "0000118001" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118002" "00000282" "90" "2729" "0" "2729" "0" "c.2729C>T" "r.(?)" "p.(Ser910Leu)" "23" "" "0000118003" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118004" "00000282" "90" "404" "0" "404" "0" "c.404G>A" "r.(?)" "p.(Gly135Asp)" "3" "" "0000118006" "00000282" "90" "1859" "0" "1859" "0" "c.1859A>G" "r.(?)" "p.(Gln620Arg)" "16" "" "0000118007" "00000282" "90" "1851" "-1" "1851" "-1" "c.1851-1G>A" "r.spl?" "p.?" "15i" "" "0000118009" "00000282" "90" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Glu307*)" "7" "" "0000118010" "00000282" "90" "2315" "1" "2315" "1" "c.2315+1G>T" "r.spl?" "p.?" "19i" "" "0000118011" "00000282" "90" "1676" "0" "1676" "0" "c.1676C>A" "r.(?)" "p.(Thr559N)" "14" "" "0000118013" "00000282" "90" "2458" "0" "2458" "0" "c.2458A>G" "r.(?)" "p.(Met820Val)" "21" "" "0000118014" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000118015" "00000282" "90" "2838" "2" "2838" "2" "c.2838+2T>C" "r.(?)" "p.?" "23i" "" "0000118016" "00000282" "90" "-1" "0" "2052" "1" "c.(?_-1)_(2052+1_2053-1)del" "r.0?" "p.0?" "_1_17i" "" "0000118017" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000118018" "00000282" "90" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(Gln614*)" "15" "" "0000118019" "00000282" "90" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gly618Arg)" "16" "" "0000118021" "00000282" "90" "1577" "0" "1580" "3" "c.1577_1580+3delinsCACACAAG" "r.(?)" "p.(Asn526Thrfs*19)" "12_12i" "" "0000118022" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118023" "00000282" "90" "847" "0" "847" "0" "c.847G>C" "r.(?)" "p.(Ala283Pro)" "6" "" "0000118025" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118026" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000118027" "00000282" "90" "2376" "0" "2376" "0" "c.2376G>C" "r.(?)" "p.(Glu792Asp)" "20" "" "0000118028" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118029" "00000282" "90" "1652" "0" "1652" "0" "c.1652G>T" "r.(?)" "p.(Ser551Ile)" "13" "" "0000118030" "00000282" "90" "1402" "-2" "1402" "-2" "c.1402-2A>T" "r.spl?" "p.?" "10i" "" "0000118031" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118032" "00000282" "90" "862" "-1" "862" "-1" "c.862-1G>C" "r.spl?" "p.?" "6i" "" "0000118033" "00000282" "90" "560" "0" "560" "0" "c.560C>A" "r.(?)" "p.(Thr187Lys)" "4" "" "0000118034" "00000282" "90" "979" "0" "979" "0" "c.979G>T" "r.(?)" "p.(Gly327Trp)" "7" "" "0000118035" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118036" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118037" "00000282" "90" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Ser169Pro)" "4" "" "0000118038" "00000282" "90" "707" "0" "707" "0" "c.707G>C" "r.(?)" "p.(Arg236Pro)" "5" "" "0000118039" "00000282" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Pro893Leu)" "23" "" "0000118040" "00000282" "90" "2614" "0" "2614" "0" "c.2614A>T" "r.(?)" "p.(Lys872*)" "22" "" "0000118041" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118042" "00000282" "90" "2281" "0" "2281" "0" "c.2281G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118043" "00000282" "90" "2182" "0" "2182" "0" "c.2182G>A" "r.(?)" "p.(Gly728Arg)" "18" "" "0000118044" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118045" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118046" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118047" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118048" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118049" "00000282" "90" "2019" "0" "2019" "0" "c.2019T>A" "r.(?)" "p.(Tyr673*)" "17" "" "0000118050" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118051" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118052" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118053" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118054" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118055" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118056" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118057" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118058" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118059" "00000282" "90" "1633" "0" "1633" "0" "c.1633G>C" "r.(?)" "p.(Asp545His)" "13" "" "0000118060" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118061" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118062" "00000282" "90" "2919" "1" "2919" "1" "c.2919+1G>A" "r.spl" "p.?" "24i" "" "0000118063" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118064" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118065" "00000282" "90" "916" "0" "916" "0" "c.916G>T" "r.(?)" "p.(Gly306*)" "7" "" "0000118066" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118067" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118068" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118069" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118070" "00000282" "90" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gly618Arg)" "16" "" "0000118071" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118072" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118073" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118074" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118075" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118076" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118077" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118078" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118079" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118080" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118081" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118082" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118086" "00000282" "90" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Gln366Arg)" "8" "" "0000118089" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "10" "" "0000118090" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000118091" "00000282" "90" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "4" "" "0000118092" "00000282" "90" "1851" "-1" "3063" "1" "c.(1850+1_1851-1)_(3063+1_?)del" "r.?" "p.?" "15i_25_" "" "0000118093" "00000282" "90" "471" "-1" "635" "1" "c.(470+1_471-1)_(635+1_636-1)del" "r.?" "p.?" "3i_4i" "" "0000118094" "00000282" "90" "2093" "0" "2093" "0" "c.2093C>T" "r.(?)" "p.(Thr698Ile)" "18" "" "0000118095" "00000282" "90" "395" "0" "395" "0" "c.395C>G" "r.(?)" "p.(Ser132Trp)" "3" "" "0000118154" "00000282" "90" "1175" "0" "1175" "0" "c.1175del" "r.(?)" "p.(Ala392Valfs*25)" "9" "" "0000118155" "00000282" "90" "28" "0" "28" "0" "c.28del" "r.(?)" "p.(Leu10Cysfs*81)" "1" "" "0000118156" "00000282" "90" "2489" "0" "2489" "0" "c.2489C>T" "r.(?)" "p.(Thr830Met)" "21" "" "0000118157" "00000282" "90" "2422" "0" "2422" "0" "c.2422del" "r.(?)" "p.(Ser808Valfs*13)" "20" "" "0000118158" "00000282" "90" "1444" "0" "1444" "0" "c.1444del" "r.(?)" "p.(Asp482ThrfsTer57)" "11" "" "0000118159" "00000282" "90" "1085" "0" "1085" "0" "c.1085G>C" "r.(?)" "p.(Arg362Pro)" "8" "" "0000118160" "00000282" "90" "2186" "0" "2186" "0" "c.2186del" "r.(?)" "p.(Ala729Glufs*3)" "18" "" "0000118161" "00000282" "90" "471" "-1" "3064" "0" "c.(470+1_471-1)_(*1_?)del" "r.?" "p.?" "3i_25_" "" "0000118162" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118163" "00000282" "90" "2196" "0" "2196" "0" "c.2196T>A" "r.(?)" "p.(N732Lys)" "18" "" "0000118164" "00000282" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "8" "" "0000118165" "00000282" "90" "457" "0" "457" "0" "c.457G>T" "r.(?)" "p.(Glu153*)" "3" "" "0000118166" "00000282" "90" "2919" "1" "2919" "1" "c.2919+1G>A" "r.spl" "p.?" "24i" "" "0000118167" "00000282" "90" "1055" "0" "1055" "0" "c.1055C>G" "r.(?)" "p.(Thr352Arg)" "7" "" "0000118168" "00000282" "90" "1282" "0" "1285" "0" "c.1282_1285dup" "r.(?)" "p.(Leu429Profs*5)" "10" "" "0000118169" "00000282" "90" "1402" "-1" "1482" "1" "c.(1401+1_1402-1)_(1482+1_1483-1)del" "r.?" "p.?" "10i_11i" "" "0000118170" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118171" "00000282" "90" "1931" "0" "1931" "0" "c.1931G>T" "r.(?)" "p.(Cys644Phe)" "17" "" "0000118172" "00000282" "90" "560" "0" "560" "0" "c.560C>A" "r.(?)" "p.(Thr187Lys)" "4" "" "0000118173" "00000282" "90" "1952" "0" "1952" "0" "c.1952A>G" "r.(?)" "p.(His651Arg)" "17" "" "0000118174" "00000282" "90" "851" "0" "851" "0" "c.851A>C" "r.(?)" "p.(His284Pro)" "6" "" "0000118175" "00000282" "90" "2919" "1" "2919" "1" "c.2919+1G>A" "r.spl" "p.?" "24i" "" "0000118176" "00000282" "90" "2489" "0" "2489" "0" "c.2489C>T" "r.(?)" "p.(Thr830Met)" "21" "" "0000118177" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118178" "00000282" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "8" "" "0000118179" "00000282" "90" "861" "1" "861" "1" "c.861+1G>T" "r.spl?" "p.?" "6i" "" "0000118180" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118181" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118182" "00000282" "90" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Tyr161Cys)" "4" "" "0000118183" "00000282" "90" "1002" "0" "1002" "0" "c.1002dup" "r.(?)" "p.(Ala335CysfsTer75)" "7" "" "0000118184" "00000282" "90" "1921" "0" "1921" "0" "c.1921A>T" "r.(?)" "p.(Arg641*)" "16" "" "0000118185" "00000282" "90" "1864" "0" "1864" "0" "c.1864A>T" "r.(?)" "p.(Asn616Tyr)" "16" "" "0000118186" "00000282" "90" "1058" "1" "1058" "1" "c.1058+1G>C" "r.spl?" "p.?" "7i" "" "0000118187" "00000282" "90" "1264" "0" "1264" "0" "c.1264C>A" "r.(?)" "p.(Leu422Ile)" "10" "" "0000118188" "00000282" "90" "1868" "0" "1868" "0" "c.1868A>G" "r.(?)" "p.(Tyr623Cys)" "16" "" "0000118189" "00000282" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "8" "" "0000118190" "00000282" "90" "2176" "0" "2176" "0" "c.2176del" "r.(?)" "p.(Leu726*)" "18" "" "0000118191" "00000282" "90" "1580" "2" "1580" "2" "c.1580+2T>A" "r.spl?" "p.?" "12i" "" "0000118192" "00000282" "90" "2276" "0" "2276" "0" "c.2276C>G" "r.(?)" "p.(Pro759Arg)" "19" "" "0000118193" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118194" "00000282" "90" "2722" "0" "2722" "0" "c.2722A>C" "r.(?)" "p.(Thr908Pro)" "23" "" "0000118195" "00000282" "90" "2053" "-1" "2202" "1" "c.(2052+1_2053-1)_(2202+1_2203-1)del" "r.?" "p.?" "17i_18i" "" "0000118196" "00000282" "90" "2186" "0" "2186" "0" "c.2186del" "r.(?)" "p.(Ala729Glufs*3)" "18" "" "0000118197" "00000282" "90" "492" "0" "492" "0" "c.492C>G" "r.(?)" "p.(Tyr164*)" "4" "" "0000118198" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "10" "" "0000118199" "00000282" "90" "256" "-7" "256" "-7" "c.256-7A>G" "r.(=)" "p.(=)" "1i" "" "0000118200" "00000282" "90" "796" "0" "796" "0" "c.796T>G" "r.(?)" "p.(Tyr266Asp)" "6" "" "0000118201" "00000282" "90" "1051" "0" "1051" "0" "c.1051del" "r.(?)" "p.(Val351*)" "7" "" "0000118202" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118203" "00000282" "90" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Arg536Gln)" "13" "" "0000118204" "00000282" "90" "470" "1" "470" "1" "c.470+1G>C" "r.spl?" "p.?" "3i" "" "0000118205" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118206" "00000282" "90" "-1" "0" "3063" "1" "c.(?_-1)_(3063+1_?)del" "r.0?" "p.0?" "_1_25_" "" "0000118207" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "6" "" "0000118208" "00000282" "90" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Gly994Arg)" "25" "" "0000118209" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118210" "00000282" "90" "1156" "-1" "1850" "1" "c.(1155+1_1156-1)_(1850+1_1851-1)del" "r.?" "p.?" "8i_15i" "" "0000118211" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118212" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>T" "r.spl?" "p.?" "22i" "" "0000118213" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118214" "00000282" "90" "1401" "5" "1401" "5" "c.1401+5G>T" "r.spl?" "p.?" "10i" "" "0000118215" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118216" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118217" "00000282" "90" "1940" "0" "1940" "0" "c.1940C>G" "r.(?)" "p.(Pro647Arg)" "17" "" "0000118218" "00000282" "90" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Lys376Glu)" "8" "" "0000118219" "00000282" "90" "2720" "0" "2775" "0" "c.2720_2775del" "r.(?)" "p.(Pro907Hisfs*7)" "23" "" "0000118220" "00000282" "90" "470" "1" "470" "1" "c.470+1G>A" "r.spl?" "p.?" "3i" "" "0000118221" "00000282" "90" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843*)" "21" "" "0000118222" "00000282" "90" "-1" "0" "713" "1" "c.(?_-1)_(713+1_714-1)del" "r.0?" "p.0?" "_1_5i" "" "0000118223" "00000282" "90" "335" "-1" "470" "1" "c.(334+1_335-1)_(470+1_471-1)del" "r.?" "p.?" "2i_3i" "" "0000118224" "00000282" "90" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Met552Val)" "13" "" "0000118225" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>G" "r.(?)" "p.(Val905Gly)" "23" "" "0000118226" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118227" "00000282" "90" "2196" "0" "2196" "0" "c.2196T>A" "r.(?)" "p.(N732Lys)" "18" "" "0000118228" "00000282" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "5" "" "0000118229" "00000282" "90" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Pro304Leu)" "7" "" "0000118230" "00000282" "90" "1033" "0" "1033" "0" "c.1033C>A" "r.(?)" "p.(Pro345Thr)" "7" "" "0000118231" "00000282" "90" "335" "-1" "470" "1" "c.(334+1_335-1)_(470+1_471-1)dup" "r.?" "p.?" "2i_3i" "" "0000118232" "00000282" "90" "1988" "0" "1988" "0" "c.1988T>A" "r.(?)" "p.(Met663Lys)" "17" "" "0000118233" "00000282" "90" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Leu296Phe)" "7" "" "0000118234" "00000282" "90" "-1" "0" "1401" "1" "c.(?_-1)_(1401+1_1402-1)del" "r.0?" "p.0?" "_1_10i" "" "0000118235" "00000282" "90" "1642" "0" "1642" "0" "c.1642C>G" "r.(?)" "p.(Leu548Val)" "13" "" "0000118236" "00000282" "90" "1183" "0" "1183" "0" "c.1183T>C" "r.(?)" "p.(Phe395Leu)" "9" "" "0000118237" "00000282" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "8" "" "0000118238" "00000282" "90" "847" "0" "847" "0" "c.847G>C" "r.(?)" "p.(Ala283Pro)" "6" "" "0000118239" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118240" "00000282" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "8" "" "0000118241" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "10" "" "0000118242" "00000282" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "8" "" "0000118243" "00000282" "90" "1156" "-1" "1850" "1" "c.(1155+1_1156-1)_(1850+1_1851-1)del" "r.?" "p.?" "8i_15i" "" "0000118244" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118245" "00000282" "90" "2666" "0" "2666" "0" "c.2666G>T" "r.(?)" "p.(Gly889Val)" "23" "" "0000118246" "00000282" "90" "2919" "1" "2919" "1" "c.2919+1G>A" "r.spl" "p.?" "24i" "" "0000118247" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118248" "00000282" "90" "924" "0" "924" "0" "c.924del" "r.(?)" "p.(Phe308Leufs*3)" "7" "" "0000118249" "00000282" "90" "1417" "0" "1417" "0" "c.1417G>C" "r.(?)" "p.(Asp473His)" "11" "" "0000118250" "00000282" "90" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Pro329Leu)" "7" "" "0000118251" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118252" "00000282" "90" "2175" "0" "2175" "0" "c.2175C>G" "r.(?)" "p.(Tyr725*)" "18" "" "0000118253" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118254" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118255" "00000282" "90" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Cys382Tyr)" "8" "" "0000118256" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "6" "" "0000118257" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118258" "00000282" "90" "1927" "-1" "2569" "1" "c.(1926+1_1927-1)_(2569+1_2570-1)del" "r.?" "p.?" "16i_21i" "" "0000118259" "00000282" "90" "2797" "0" "2797" "0" "c.2797A>T" "r.(?)" "p.(Ile933Phe)" "23" "" "0000118260" "00000282" "90" "959" "0" "969" "0" "c.959_969delinsGGGAG" "r.(?)" "p.(Phe320_Pro323delinsTrpGlu)" "7" "" "0000118261" "00000282" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Pro267Ser)" "6" "" "0000118262" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000118263" "00000282" "90" "976" "0" "976" "0" "c.976T>G" "r.(?)" "p.(Tyr326Asp)" "7" "" "0000118264" "00000282" "90" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Gly469Asp)" "11" "" "0000118265" "00000282" "90" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Asn459Asp)" "10" "" "0000118266" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118267" "00000282" "90" "600" "0" "600" "0" "c.600del" "r.(?)" "p.(Thr201Leufs*30)" "4" "" "0000118268" "00000282" "90" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "4" "" "0000118269" "00000282" "90" "2329" "0" "2329" "0" "c.2329G>C" "r.(?)" "p.(Ala777Pro)" "20" "" "0000118270" "00000282" "90" "2919" "5" "2919" "5" "c.2919+5G>C" "r.spl?" "p.?" "24i" "" "0000118271" "00000282" "90" "2963" "0" "2963" "0" "c.2963G>A" "r.(?)" "p.(Arg988Gln)" "25" "" "0000118272" "00000282" "90" "2093" "0" "2093" "0" "c.2093C>T" "r.(?)" "p.(Thr698Ile)" "18" "" "0000118273" "00000282" "90" "2838" "1" "2838" "1" "c.2838+1G>A" "r.(?)" "p.?" "23i" "" "0000118274" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "6" "" "0000118275" "00000282" "90" "984" "0" "984" "0" "c.984dup" "r.(?)" "p.(Pro329ThrfsTer81)" "7" "" "0000118276" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118277" "00000282" "90" "1742" "0" "1742" "0" "c.1742C>G" "r.(?)" "p.(Pro581Arg)" "15" "" "0000118278" "00000282" "90" "924" "0" "924" "0" "c.924del" "r.(?)" "p.(Phe308Leufs*3)" "7" "" "0000118279" "00000282" "90" "2111" "0" "2111" "0" "c.2111G>T" "r.(?)" "p.(Gly704Val)" "18" "" "0000118281" "00000282" "90" "2665" "5" "2665" "5" "c.2665+5G>A" "r.spl?" "p.(Tyr858_Gly889del)" "22i" "" "0000118282" "00000282" "90" "1742" "0" "1742" "0" "c.1742C>G" "r.(?)" "p.(Pro581Arg)" "15" "" "0000118284" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118286" "00000282" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "1" "" "0000118287" "00000282" "90" "799" "0" "799" "0" "c.799C>G" "r.(?)" "p.(Pro267Ala)" "6" "" "0000118288" "00000282" "90" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Gly994Arg)" "25" "" "0000118289" "00000282" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "8" "" "0000118291" "00000282" "90" "2798" "0" "2798" "0" "c.2798T>C" "r.(?)" "p.(Ile933Thr)" "23" "" "0000118292" "00000282" "90" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Arg362Cys)" "8" "" "0000118293" "00000282" "90" "1871" "0" "1871" "0" "c.1871C>A" "r.(?)" "p.(Ala624Asp)" "16" "" "0000118294" "00000282" "90" "-1" "0" "1707" "1" "c.(?_-1)_(1707+1_1708-1)del" "r.0?" "p.0?" "_1_14i" "" "0000118295" "00000282" "90" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(His580Tyr)" "15" "" "0000118296" "00000282" "90" "1666" "0" "1666" "0" "c.1666G>T" "r.(?)" "p.(Gly556*)" "14" "" "0000118297" "00000282" "90" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Gly763Asp)" "19" "" "0000118298" "00000282" "90" "518" "0" "518" "0" "c.518T>C" "r.(?)" "p.(Leu173Pro)" "4" "" "0000118299" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118300" "00000282" "90" "2596" "0" "2596" "0" "c.2596G>C" "r.(?)" "p.(Asp866His)" "22" "" "0000118301" "00000282" "90" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843*)" "21" "" "0000118302" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000118303" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118304" "00000282" "90" "636" "-1" "636" "-1" "c.636-1G>C" "r.spl?" "p.?" "4i" "" "0000118305" "00000282" "90" "1156" "-1" "1261" "1" "c.(1155+1_1156-1)_(1261+1_1262-1)del" "r.?" "p.?" "8i_9i" "" "0000118306" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118307" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118308" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000118309" "00000282" "90" "256" "-3" "256" "-3" "c.256-3T>G" "r.spl?" "p.?" "1i" "" "0000118310" "00000282" "90" "2852" "0" "2852" "0" "c.2852C>A" "r.(?)" "p.(Ser951Tyr)" "24" "" "0000118311" "00000282" "90" "-1" "0" "1926" "1" "c.(?_-1)_(1926+1_1927-1)del" "r.0?" "p.0?" "_1_16i" "" "0000118312" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118313" "00000282" "90" "2489" "0" "2489" "0" "c.2489C>A" "r.(?)" "p.(Thr830Lys)" "21" "" "0000118314" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118315" "00000282" "90" "1444" "0" "1444" "0" "c.1444dup" "r.(?)" "p.(Asp482Glyfs*10)" "11" "" "0000118316" "00000282" "90" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Cys382Tyr)" "8" "" "0000118317" "00000282" "90" "1851" "-1" "3063" "1" "c.(1850+1_1851-1)_(3063+1_?)del" "r.?" "p.?" "15i_25_" "" "0000118318" "00000282" "90" "334" "1" "334" "1" "c.334+1G>T" "r.spl?" "p.?" "2i" "" "0000118319" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118320" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118321" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118324" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118325" "00000282" "90" "2841" "0" "2841" "0" "c.2841G>A" "r.(?)" "p.(Met947Ile)" "24" "" "0000118326" "00000282" "90" "-1" "0" "2052" "1" "c.(?_-1)_(2052+1_2053-1)del" "r.0?" "p.0?" "_1_17i" "" "0000118327" "00000282" "90" "2899" "0" "2899" "0" "c.2899G>T" "r.(?)" "p.(Glu967*)" "24" "" "0000118328" "00000282" "90" "1888" "0" "1888" "0" "c.1888C>T" "r.(?)" "p.(Arg630*)" "16" "" "0000118329" "00000282" "90" "608" "0" "608" "0" "c.608C>T" "r.(?)" "p.(Ala203Val)" "4" "" "0000118330" "00000282" "90" "335" "-1" "1850" "1" "c.(334+1_335-1)_(1850+1_1851-1)dup" "r.?" "p.?" "2i_15i" "" "0000118331" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118332" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000118333" "00000282" "90" "1652" "0" "1652" "0" "c.1652G>T" "r.(?)" "p.(Ser551Ile)" "13" "" "0000118334" "00000282" "90" "2297" "0" "2297" "0" "c.2297G>T" "r.(?)" "p.(Gly766Val)" "19" "" "0000118335" "00000282" "90" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Leu562Pro)" "14" "" "0000118336" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>T" "r.spl?" "p.?" "22i" "" "0000118337" "00000282" "90" "2885" "0" "2885" "0" "c.2885G>C" "r.(?)" "p.(Arg962Pro)" "24" "" "0000118338" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000118339" "00000282" "90" "1606" "0" "1606" "0" "c.1606C>T" "r.(?)" "p.(Arg536Trp)" "13" "" "0000118340" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118341" "00000282" "90" "1180" "0" "1180" "0" "c.1180del" "r.(?)" "p.(Met394Cysfs*23)" "9" "" "0000118342" "00000282" "90" "2919" "5" "2919" "5" "c.2919+5G>T" "r.spl?" "p.?" "24i" "" "0000118343" "00000282" "90" "335" "-1" "1261" "1" "c.(334+1_335-1)_(1261+1_1262-1)del" "r.?" "p.?" "2i_9i" "" "0000118344" "00000282" "90" "1886" "0" "1886" "0" "c.1886T>C" "r.(?)" "p.(Ile629Thr)" "16" "" "0000118345" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118347" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118349" "00000282" "90" "1896" "0" "1896" "0" "c.1896C>G" "r.(?)" "p.(Tyr632*)" "16" "" "0000118350" "00000282" "90" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Trp)" "25" "" "0000118351" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118352" "00000282" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Arg236*)" "5" "" "0000118353" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "6" "" "0000118354" "00000282" "90" "2281" "0" "2281" "0" "c.2281G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118355" "00000282" "90" "2755" "0" "2755" "0" "c.2755T>A" "r.(?)" "p.(Phe919Ile)" "23" "" "0000118356" "00000282" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Gln366*)" "8" "" "0000118357" "00000282" "90" "1611" "0" "1611" "0" "c.1611C>A" "r.(?)" "p.(Tyr537*)" "13" "" "0000118358" "00000282" "90" "-1" "0" "2052" "1" "c.(?_-1)_(2052+1_2053-1)del" "r.0?" "p.0?" "_1_17i" "" "0000118359" "00000282" "90" "2279" "0" "2279" "0" "c.2279A>G" "r.(?)" "p.(His760Arg)" "19" "" "0000118360" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>G" "r.(?)" "p.(Val905Gly)" "23" "" "0000118361" "00000282" "90" "1959" "0" "1959" "0" "c.1959del" "r.(?)" "p.(Asn654Thrfs*10)" "17" "" "0000118362" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118365" "00000282" "90" "1148" "0" "1148" "0" "c.1148C>T" "r.(?)" "p.(Thr383Ile)" "8" "" "0000118366" "00000282" "90" "1851" "-1" "2569" "1" "c.(1850+1_1851-1)_(2569+1_2570-1)del" "r.?" "p.?" "15i_21i" "" "0000118367" "00000282" "90" "335" "-1" "1261" "1" "c.(334+1_335-1)_(1261+1_1262-1)del" "r.?" "p.?" "2i_9i" "" "0000118368" "00000282" "90" "1317" "0" "1317" "0" "c.1317G>T" "r.(?)" "p.(Lys439Asn)" "10" "" "0000118369" "00000282" "90" "245" "0" "245" "0" "c.245T>C" "r.(?)" "p.(Leu82Ser)" "1" "" "0000118370" "00000282" "90" "471" "-1" "1261" "1" "c.(470+1_471-1)_(1261+1_1262-1)del" "r.?" "p.?" "3i_9i" "" "0000118371" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000118372" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "10" "" "0000118373" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118374" "00000282" "90" "2498" "0" "2498" "0" "c.2498C>T" "r.(?)" "p.(Ala833Val)" "21" "" "0000118375" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000118376" "00000282" "90" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Gln128*)" "3" "" "0000118379" "00000282" "90" "2281" "0" "2281" "0" "c.2281G>C" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118380" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118381" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118382" "00000282" "90" "2654" "0" "2654" "0" "c.2654T>C" "r.(?)" "p.(Leu885Pro)" "22" "" "0000118383" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118386" "00000282" "90" "-1" "0" "635" "1" "c.(?_-1)_(635+1_636-1)del" "r.0?" "p.0?" "_1_4i" "" "0000118387" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118388" "00000282" "90" "2415" "0" "2415" "0" "c.2415G>A" "r.(?)" "p.(Trp805*)" "20" "" "0000118389" "00000282" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ser132Leu)" "3" "" "0000118390" "00000282" "90" "2423" "0" "2423" "0" "c.2423G>T" "r.(?)" "p.(Ser808Ile)" "20" "" "0000118392" "00000282" "90" "2033" "0" "2035" "0" "c.2033_2035del" "r.(?)" "p.(Ala678del)" "17" "" "0000118394" "00000282" "90" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "19" "" "0000118396" "00000282" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ser132Leu)" "3" "" "0000118398" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118399" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118400" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000118401" "00000282" "90" "2584" "0" "2584" "0" "c.2584G>A" "r.(?)" "p.(Glu862Lys)" "22" "" "0000118402" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118403" "00000282" "90" "1851" "-1" "1926" "1" "c.(1850+1_1851-1)_(1926+1_1927-1)del" "r.?" "p.?" "15i_16i" "" "0000118404" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118405" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118406" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118407" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118409" "00000282" "90" "1851" "-1" "1851" "-1" "c.1851-1G>A" "r.spl?" "p.?" "15i" "" "0000118410" "00000282" "90" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Cys291Tyr)" "7" "" "0000118411" "00000282" "90" "2838" "5" "2838" "5" "c.2838+5G>A" "r.(?)" "p.?" "23i" "" "0000118412" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>A" "r.spl?" "p.?" "22i" "" "0000118413" "00000282" "90" "1576" "0" "1580" "0" "c.1576_1580delinsCAACACAA" "r.(?)" "p.(Asn526Thrfs*9)" "12" "" "0000118414" "00000282" "90" "2186" "0" "2186" "0" "c.2186del" "r.(?)" "p.(Ala729Glufs*3)" "18" "" "0000118415" "00000282" "90" "2416" "0" "2416" "0" "c.2416G>C" "r.(?)" "p.(Gly806Arg)" "20" "" "0000118416" "00000282" "90" "2198" "0" "2198" "0" "c.2198C>T" "r.(?)" "p.(Ala733Val)" "18" "" "0000118417" "00000282" "90" "471" "-1" "635" "1" "c.(470+1_471-1)_(635+1_636-1)del" "r.?" "p.?" "3i_4i" "" "0000118418" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000118419" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118422" "00000282" "90" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gly618Arg)" "16" "" "0000118423" "00000282" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Trp)" "10" "" "0000118426" "00000282" "90" "2720" "0" "2720" "0" "c.2720C>T" "r.(?)" "p.(Pro907Leu)" "23" "" "0000118427" "00000282" "90" "1000" "0" "1000" "0" "c.1000T>C" "r.(?)" "p.(Phe334Leu)" "7" "" "0000118428" "00000282" "90" "-1" "0" "635" "1" "c.(?_-1)_(635+1_636-1)del" "r.0?" "p.0?" "_1_4i" "" "0000118429" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118430" "00000282" "90" "1118" "0" "1118" "0" "c.1118G>A" "r.(?)" "p.(Arg373Gln)" "8" "" "0000118431" "00000282" "90" "1868" "0" "1869" "0" "c.1868_1869dup" "r.(?)" "p.(Ala624Metfs*11)" "16" "" "0000118432" "00000282" "90" "1262" "-1" "2569" "1" "c.(1261+1_1262-1)_(2569+1_2570-1)del" "r.?" "p.?" "9i_21i" "" "0000118433" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118434" "00000282" "90" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Arg)" "6" "" "0000118435" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118436" "00000282" "90" "952" "0" "952" "0" "c.952C>G" "r.(?)" "p.(Gln318Glu)" "7" "" "0000118437" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118438" "00000282" "90" "2450" "0" "2450" "0" "c.2450A>G" "r.(?)" "p.(Tyr817Cys)" "20" "" "0000118439" "00000282" "90" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843*)" "21" "" "0000118440" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "10" "" "0000118441" "00000282" "90" "471" "-1" "1850" "1" "c.(470+1_471-1)_(1850+1_1851-1)del" "r.?" "p.?" "3i_15i" "" "0000118442" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118443" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118444" "00000282" "90" "1317" "0" "1317" "0" "c.1317G>T" "r.(?)" "p.(Lys439Asn)" "10" "" "0000118445" "00000282" "90" "-1" "0" "470" "1" "c.(?_-1)_(470+1_471-1)del" "r.0?" "p.0?" "_1_3i" "" "0000118446" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000118447" "00000282" "90" "2849" "0" "2849" "0" "c.2849A>G" "r.(?)" "p.(His950Arg)" "24" "" "0000118448" "00000282" "90" "2324" "0" "2324" "0" "c.2324A>C" "r.(?)" "p.(His775Pro)" "20" "" "0000118449" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118450" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000118451" "00000282" "90" "1652" "0" "1652" "0" "c.1652G>T" "r.(?)" "p.(Ser551Ile)" "13" "" "0000118452" "00000282" "90" "2983" "0" "2983" "0" "c.2983G>A" "r.(?)" "p.(Asp995Asn)" "25" "" "0000118453" "00000282" "90" "527" "0" "527" "0" "c.527del" "r.(?)" "p.(Leu176Tyrfs*55)" "4" "" "0000118454" "00000282" "90" "2236" "0" "2236" "0" "c.2236G>C" "r.(?)" "p.(Asp746His)" "19" "" "0000118455" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118458" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118464" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000118465" "00000282" "90" "471" "-1" "635" "1" "c.(470+1_471-1)_(635+1_636-1)del" "r.?" "p.?" "3i_4i" "" "0000118466" "00000282" "90" "-1" "0" "470" "1" "c.(?_-1)_(470+1_471-1)del" "r.0?" "p.0?" "_1_3i" "" "0000118467" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118468" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118470" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000118471" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118472" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000118473" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000118474" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000118475" "00000282" "90" "2729" "0" "2729" "0" "c.2729C>T" "r.(?)" "p.(Ser910Leu)" "23" "" "0000118476" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118477" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>C" "r.(?)" "p.(Val905Gly)" "23" "" "0000118478" "00000282" "90" "1156" "-1" "2569" "1" "c.(1155+1_1156-1)_(2569+1_2570-1)del" "r.?" "p.?" "8i_21i" "" "0000118479" "00000282" "90" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Pro304Leu)" "7" "" "0000118480" "00000282" "90" "236" "0" "236" "0" "c.236T>C" "r.(?)" "p.(Leu79Pro)" "1" "" "0000118481" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000118482" "00000282" "90" "2751" "0" "2751" "0" "c.2751C>A" "r.(?)" "p.(Asp917Glu)" "23" "" "0000118483" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118484" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118485" "00000282" "90" "2846" "0" "2846" "0" "c.2846C>T" "r.(?)" "p.(Pro949Leu)" "24" "" "0000118486" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118487" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118488" "00000282" "90" "1834" "0" "1834" "0" "c.1834del" "r.(?)" "p.(Cys612ValfsTer22)" "15" "" "0000118490" "00000282" "90" "847" "0" "847" "0" "c.847G>C" "r.(?)" "p.(Ala283Pro)" "6" "" "0000118493" "00000282" "90" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Pro304Leu)" "7" "" "0000118496" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>C" "r.(?)" "p.(Val905Gly)" "23" "" "0000118497" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118499" "00000282" "90" "2183" "0" "2183" "0" "c.2183G>A" "r.(?)" "p.(Gly728Glu)" "18" "" "0000118500" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000118501" "00000282" "90" "1194" "0" "1194" "0" "c.1194C>A" "r.(?)" "p.(Tyr398*)" "9" "" "0000118502" "00000282" "90" "636" "-1" "713" "1" "c.(635+1_636-1)_(713+1_714-1)del" "r.?" "p.?" "4i_5i" "" "0000118503" "00000282" "90" "2919" "1" "2919" "1" "c.2919+1G>C" "r.spl" "p.?" "24i" "" "0000118504" "00000282" "90" "1580" "2" "1580" "2" "c.1580+2T>G" "r.spl?" "p.?" "12i" "" "0000118505" "00000282" "90" "636" "-1" "1155" "1" "c.(635+1_636-1)_(1155+1_1156-1)del" "r.?" "p.?" "4i_8i" "" "0000118506" "00000282" "90" "2963" "0" "2963" "0" "c.2963G>A" "r.(?)" "p.(Arg988Gln)" "25" "" "0000118509" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "10" "" "0000118511" "00000282" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "7" "" "0000118513" "00000282" "90" "-1" "0" "255" "1" "c.(?_-1)_(255+1_256-1)del" "r.0?" "p.0?" "_1_1i" "" "0000118515" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118516" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118517" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118519" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118520" "00000282" "90" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Gln180*)" "4" "" "0000118522" "00000282" "90" "391" "0" "391" "0" "c.391A>T" "r.(?)" "p.(Arg131*)" "3" "" "0000118523" "00000282" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ser132Leu)" "3" "" "0000118524" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000118525" "00000282" "90" "2901" "0" "2901" "0" "c.2901G>C" "r.(?)" "p.(Glu967Asp)" "24" "" "0000118526" "00000282" "90" "1054" "0" "1054" "0" "c.1054del" "r.(?)" "p.(Thr352GlnfsTer65)" "7" "" "0000118527" "00000282" "90" "1256" "0" "1256" "0" "c.1256C>G" "r.(?)" "p.(Ser419*)" "9" "" "0000118528" "00000282" "90" "1041" "0" "1041" "0" "c.1041A>C" "r.(?)" "p.(Arg347Ser)" "7" "" "0000118530" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>A" "r.(?)" "p.(Ala802Glu)" "20" "" "0000118531" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000118532" "00000282" "90" "-1" "0" "2665" "1" "c.(?_-1)_(2665+1_2666-1)del" "r.0?" "p.0?" "_1_22i" "" "0000118533" "00000282" "90" "256" "-1" "334" "1" "c.(255+1_256-1)_(334+1_335-1)del" "r.?" "p.?" "1i_2i" "" "0000118534" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000118535" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118537" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "10" "" "0000118538" "00000282" "90" "1059" "-1" "1155" "1" "c.(1058+1_1059-1)_(1155+1_1156-1)del" "r.?" "p.?" "7i_8i" "" "0000118539" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118540" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000118541" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118542" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "6" "" "0000118543" "00000282" "90" "-1" "0" "1926" "1" "c.(?_-1)_(1926+1_1927-1)del" "r.0?" "p.0?" "_1_16i" "" "0000118544" "00000282" "90" "1665" "1" "1665" "1" "c.1665+1G>A" "r.spl?" "p.?" "14i" "" "0000118545" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000118546" "00000282" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000118547" "00000282" "90" "2584" "0" "2584" "0" "c.2584G>A" "r.(?)" "p.(Glu862Lys)" "22" "" "0000118548" "00000282" "90" "255" "3" "255" "3" "c.255+3A>T" "r.spl?" "p.?" "1i" "" "0000118549" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000118550" "00000282" "90" "391" "0" "391" "0" "c.391A>T" "r.(?)" "p.(Arg131*)" "3" "" "0000118551" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118552" "00000282" "90" "2183" "0" "2183" "0" "c.2183G>A" "r.(?)" "p.(Gly728Glu)" "18" "" "0000118553" "00000282" "90" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Gly722Arg)" "18" "" "0000118554" "00000282" "90" "1642" "0" "1642" "0" "c.1642C>G" "r.(?)" "p.(Leu548Val)" "13" "" "0000118555" "00000282" "90" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "19" "" "0000118556" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118557" "00000282" "90" "747" "0" "747" "0" "c.747del" "r.(?)" "p.(Cys250Valfs*48)" "6" "" "0000118558" "00000282" "90" "547" "0" "547" "0" "c.547del" "r.(?)" "p.(Val183Cysfs*48)" "4" "" "0000118559" "00000282" "90" "2183" "0" "2183" "0" "c.2183G>A" "r.(?)" "p.(Gly728Glu)" "18" "" "0000118560" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118561" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000118562" "00000282" "90" "2481" "0" "2484" "0" "c.2481_2484del" "r.(?)" "p.(Gln828Profs*7)" "21" "" "0000118563" "00000282" "90" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Pro615Leu)" "15" "" "0000118564" "00000282" "90" "1059" "-1" "1155" "1" "c.(1058+1_1059-1)_(1155+1_1156-1)del" "r.?" "p.?" "7i_8i" "" "0000118565" "00000282" "90" "1970" "0" "1970" "0" "c.1970G>A" "r.(?)" "p.(Ser657Asn)" "17" "" "0000118566" "00000282" "90" "2198" "0" "2198" "0" "c.2198C>A" "r.(?)" "p.(Ala733Asp)" "18" "" "0000118567" "00000282" "90" "2267" "0" "2269" "0" "c.2267_2269del" "r.(?)" "p.(Phedel756)" "19" "" "0000118569" "00000282" "90" "335" "-1" "1261" "1" "c.(334+1_335-1)_(1261+1_1262-1)del" "r.?" "p.?" "2i_9i" "" "0000118570" "00000282" "90" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Trp)" "25" "" "0000118572" "00000282" "90" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Glu307*)" "7" "" "0000118573" "00000282" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Pro893Leu)" "23" "" "0000118574" "00000282" "90" "1262" "-1" "1482" "1" "c.(1261+1_1262-1)_(1482+1_1483-1)del" "r.?" "p.?" "9i_11i" "" "0000118576" "00000282" "90" "1723" "0" "1723" "0" "c.1723G>T" "r.(?)" "p.(Glu575*)" "15" "" "0000118577" "00000282" "90" "2086" "0" "2086" "0" "c.2086del" "r.(?)" "p.(Met696*)" "18" "" "0000118578" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118579" "00000282" "90" "2665" "1" "2665" "1" "c.2665+1G>C" "r.spl?" "p.?" "22i" "" "0000118580" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>G" "r.(?)" "p.(Val905Gly)" "23" "" "0000118581" "00000282" "90" "2238" "0" "2238" "0" "c.2238T>A" "r.(?)" "p.(Asp746Glu)" "19" "" "0000118582" "00000282" "90" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gly618Arg)" "16" "" "0000118584" "00000282" "90" "636" "-1" "1850" "1" "c.(635+1_636-1)_(1850+1_1851-1)del" "r.?" "p.?" "4i_15i" "" "0000118585" "00000282" "90" "2317" "0" "2317" "0" "c.2317A>T" "r.(?)" "p.(Lys773*)" "20" "" "0000118586" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118588" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118589" "00000282" "90" "335" "-1" "2569" "1" "c.(334+1_335-1)_(2569+1_2570-1)del" "r.?" "p.?" "2i_21i" "" "0000118590" "00000282" "90" "2376" "0" "2376" "0" "c.2376G>C" "r.(?)" "p.(Glu792Asp)" "20" "" "0000118591" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118592" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118593" "00000282" "90" "1402" "-2" "1402" "-2" "c.1402-2A>T" "r.spl?" "p.?" "10i" "" "0000118594" "00000282" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Glu167*)" "4" "" "0000118595" "00000282" "30" "501" "0" "501" "0" "c.501G>A" "r.(=)" "p.(Glu167=)" "4" "" "0000118596" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118597" "00000282" "90" "560" "0" "560" "0" "c.560C>A" "r.(?)" "p.(Thr187Lys)" "4" "" "0000118598" "00000282" "90" "979" "0" "979" "0" "c.979G>T" "r.(?)" "p.(Gly327Trp)" "7" "" "0000118599" "00000282" "90" "1411" "0" "1411" "0" "c.1411T>C" "r.(?)" "p.(Ser471Pro)" "11" "" "0000118600" "00000282" "90" "2427" "0" "2428" "0" "c.2427_2428insGTTC" "r.(?)" "p.(Ile810Valfs*19)" "20" "" "0000118601" "00000282" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Gln318*)" "7" "" "0000118602" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118603" "00000282" "90" "610" "0" "611" "0" "c.610_611delinsTT" "r.(?)" "p.(Ala204Leu)" "4" "" "0000118604" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118605" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118606" "00000282" "90" "2584" "0" "2584" "0" "c.2584G>A" "r.(?)" "p.(Glu862Lys)" "22" "" "0000118607" "00000282" "90" "1054" "0" "1054" "0" "c.1054del" "r.(?)" "p.(Thr352GlnfsTer65)" "7" "" "0000118608" "00000282" "90" "2281" "0" "2281" "0" "c.2281G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118609" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118610" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564*)" "14" "" "0000118611" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118612" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118613" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118614" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118615" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118616" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118617" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118618" "00000282" "90" "2919" "1" "2919" "1" "c.2919+1G>A" "r.spl" "p.?" "24i" "" "0000118619" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118620" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ie)" "14" "" "0000118621" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118622" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118623" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118624" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118625" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118626" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118627" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118628" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118629" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118630" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118631" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118632" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118633" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118634" "00000282" "90" "-1" "0" "1155" "1" "c.(?_-1)_(1155+1_1156-1)del" "r.0?" "p.0?" "_1_8i" "" "0000118635" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118636" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118637" "00000282" "90" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly761Arg)" "19" "" "0000118638" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118639" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118640" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118641" "00000282" "90" "1691" "0" "1691" "0" "c.1691G>T" "r.(?)" "p.(Ser564Ile)" "14" "" "0000118645" "00000282" "90" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Gln366Arg)" "8" "" "0000118648" "00000282" "90" "2203" "-2" "2203" "-2" "c.2203-2A>G" "r.spl?" "p.?" "18i" "" "0000118649" "00000282" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ala389Val)" "9" "" "0000118650" "00000282" "90" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "4" "" "0000118651" "00000282" "90" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "4" "" "0000118652" "00000282" "90" "471" "-1" "635" "1" "c.(470+1_471-1)_(635+1_636-1)del" "r.?" "p.?" "3i_4i" "" "0000118653" "00000282" "90" "1888" "0" "1888" "0" "c.1888C>T" "r.(?)" "p.(Arg630*)" "16" "" "0000118654" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "10" "" "0000118713" "00000282" "90" "1319" "0" "1319" "0" "c.1319T>A" "r.(?)" "p.(Ile440Asn)" "10" "" "0000118714" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118715" "00000282" "90" "1156" "-1" "1850" "1" "c.(1155+1_1156-1)_(1850+1_1851-1)del" "r.?" "p.?" "8i_15i" "" "0000118716" "00000282" "90" "2521" "0" "2521" "0" "c.2521G>C" "r.(?)" "p.(Ala841Pro)" "21" "" "0000118717" "00000282" "90" "2305" "0" "2305" "0" "c.2305C>A" "r.(?)" "p.(Pro769Thr)" "19" "" "0000118718" "00000282" "90" "1085" "0" "1085" "0" "c.1085G>C" "r.(?)" "p.(Arg362Pro)" "8" "" "0000118719" "00000282" "90" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Glu270*)" "6" "" "0000118720" "00000282" "90" "471" "-1" "3064" "0" "c.(470+1_471-1)_(*1_?)del" "r.?" "p.?" "3i_25_" "" "0000118721" "00000282" "90" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "19" "" "0000118722" "00000282" "90" "2838" "5" "2838" "5" "c.2838+5G>A" "r.(?)" "p.?" "23i" "" "0000118723" "00000282" "90" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Tyr161Cys)" "4" "" "0000118724" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "6" "" "0000118725" "00000282" "90" "1868" "0" "1868" "0" "c.1868A>G" "r.(?)" "p.(Thr623Cys)" "16" "" "0000118726" "00000282" "90" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "19" "" "0000118727" "00000282" "90" "513" "0" "513" "0" "c.513G>C" "r.(=)" "p.(=)" "4" "" "0000118728" "00000282" "90" "2896" "0" "2896" "0" "c.2896A>G" "r.(?)" "p.(Arg966Gly)" "24" "" "0000118729" "00000282" "90" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843*)" "21" "" "0000118730" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118731" "00000282" "90" "560" "0" "560" "0" "c.560C>A" "r.(?)" "p.(Thr187Lys)" "4" "" "0000118732" "00000282" "90" "1952" "0" "1952" "0" "c.1952A>G" "r.(?)" "p.(His651Arg)" "17" "" "0000118733" "00000282" "90" "851" "0" "851" "0" "c.851A>C" "r.(?)" "p.(His284Pro)" "6" "" "0000118734" "00000282" "90" "2919" "1" "2919" "1" "c.2919+1G>A" "r.spl" "p.?" "24i" "" "0000118735" "00000282" "90" "-1" "0" "470" "1" "c.(?_-1)_(470+1_471-1)del" "r.0?" "p.0?" "_1_3i" "" "0000118736" "00000282" "90" "2324" "0" "2324" "0" "c.2324A>G" "r.(?)" "p.(His775Arg)" "20" "" "0000118737" "00000282" "90" "-1" "0" "255" "1" "c.(?_-1)_(255+1_256-1)del" "r.0?" "p.0?" "_1_1i" "" "0000118738" "00000282" "90" "2152" "0" "2154" "0" "c.2152_2154delinsTCCTGGTTTA" "r.(?)" "p.(His718fs*12)" "18" "" "0000118739" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118740" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118741" "00000282" "90" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Tyr161Cys)" "4" "" "0000118742" "00000282" "90" "1002" "0" "1002" "0" "c.1002dup" "r.(?)" "p.(Ala335CysfsTer75)" "7" "" "0000118743" "00000282" "90" "1921" "0" "1921" "0" "c.1921A>T" "r.(?)" "p.(Arg641*)" "16" "" "0000118744" "00000282" "90" "2512" "0" "2512" "0" "c.2512A>G" "r.(?)" "p.(Asn838Asp)" "21" "" "0000118745" "00000282" "90" "1483" "-1" "2052" "1" "c.(1482+1_1483-1)_(2052+1_2053-1)del" "r.?" "p.?" "11i_17i" "" "0000118746" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>G" "r.(?)" "p.(Val905Gly)" "23" "" "0000118747" "00000282" "90" "256" "-1" "1850" "1" "c.(255+1_256-1)_(1850+1_1851-1)dup" "r.?" "p.?" "1i_15i" "" "0000118748" "00000282" "90" "2639" "0" "2639" "0" "c.2639A>T" "r.(?)" "p.(Asp880Val)" "22" "" "0000118749" "00000282" "90" "1846" "0" "1846" "0" "c.1846A>G" "r.(?)" "p.(Asn616Asp)" "15" "" "0000118750" "00000282" "90" "1921" "0" "1921" "0" "c.1921A>T" "r.(?)" "p.(Arg641*)" "16" "" "0000118751" "00000282" "90" "2276" "0" "2276" "0" "c.2276C>G" "r.(?)" "p.(Pro759Arg)" "19" "" "0000118752" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118753" "00000282" "90" "2722" "0" "2722" "0" "c.2722A>C" "r.(?)" "p.(Thr908Pro)" "23" "" "0000118754" "00000282" "90" "1664" "0" "1664" "0" "c.1664T>G" "r.(?)" "p.(Leu555Arg)" "13" "" "0000118755" "00000282" "90" "1262" "0" "1262" "0" "c.1262G>T" "r.(?)" "p.(Gly421Val)" "10" "" "0000118756" "00000282" "90" "209" "0" "209" "0" "c.209C>G" "r.(?)" "p.(Pro70Arg)" "1" "" "0000118757" "00000282" "90" "2578" "0" "2578" "0" "c.2578G>C" "r.(?)" "p.(Gly860Arg)" "22" "" "0000118758" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "12" "" "0000118759" "00000282" "90" "-1" "0" "2665" "1" "c.(?_-1)_(2665+1_2666-1)del" "r.0?" "p.0?" "_1_22i" "" "0000118760" "00000282" "90" "-1" "0" "3063" "1" "c.(?_-1)_(3063+1_?)del" "r.0?" "p.0?" "_1_25_" "" "0000118761" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118762" "00000282" "90" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Arg536Gln)" "13" "" "0000118763" "00000282" "90" "2880" "0" "2880" "0" "c.2880G>C" "r.(?)" "p.(Trp960Cys)" "24" "" "0000118764" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118765" "00000282" "90" "1642" "0" "1642" "0" "c.1642C>G" "r.(?)" "p.(Leu548Val)" "13" "" "0000118766" "00000282" "90" "1223" "0" "1227" "0" "c.1223_1227del" "r.(?)" "p.(Ala408Glufs*4)" "9" "" "0000118767" "00000282" "90" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Gly994Arg)" "25" "" "0000118768" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118769" "00000282" "90" "1156" "-1" "1850" "1" "c.(1155+1_1156-1)_(1850+1_1851-1)del" "r.?" "p.?" "8i_15i" "" "0000118770" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118771" "00000282" "90" "-1" "0" "3063" "1" "c.(?_-1)_(3063+1_?)del" "r.0?" "p.0?" "_1_25_" "" "0000118772" "00000282" "90" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Gln589*)" "15" "" "0000118773" "00000282" "90" "2885" "0" "2885" "0" "c.2885G>A" "r.(?)" "p.(Arg962Gln)" "24" "" "0000118774" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118775" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118776" "00000282" "90" "1606" "0" "1606" "0" "c.1606C>T" "r.(?)" "p.(Arg536Trp)" "13" "" "0000118777" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118778" "00000282" "90" "2849" "0" "2849" "0" "c.2849A>G" "r.(?)" "p.(His950Arg)" "24" "" "0000118779" "00000282" "90" "470" "1" "470" "1" "c.470+1G>A" "r.spl?" "p.?" "3i" "" "0000118780" "00000282" "90" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843*)" "21" "" "0000118781" "00000282" "90" "-1" "0" "713" "1" "c.(?_-1)_(713+1_714-1)del" "r.0?" "p.0?" "_1_5i" "" "0000118782" "00000282" "90" "335" "-1" "470" "1" "c.(334+1_335-1)_(470+1_471-1)del" "r.?" "p.?" "2i_3i" "" "0000118783" "00000282" "90" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "19" "" "0000118784" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>G" "r.(?)" "p.(Val905Gly)" "23" "" "0000118785" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118786" "00000282" "90" "2182" "0" "2182" "0" "c.2182G>A" "r.(?)" "p.(Gly728Arg)" "18" "" "0000118787" "00000282" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "5" "" "0000118788" "00000282" "90" "2578" "0" "2578" "0" "c.2578G>C" "r.(?)" "p.(Gly860Arg)" "22" "" "0000118789" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118790" "00000282" "90" "335" "-1" "470" "1" "c.(334+1_335-1)_(470+1_471-1)dup" "r.?" "p.?" "2i_3i" "" "0000118791" "00000282" "90" "1988" "0" "1988" "0" "c.1988T>A" "r.(?)" "p.(Met663Lys)" "17" "" "0000118792" "00000282" "90" "1055" "0" "1055" "0" "c.1055C>G" "r.(?)" "p.(Thr352Arg)" "7" "" "0000118793" "00000282" "90" "-1" "0" "1401" "1" "c.(?_-1)_(1401+1_1402-1)del" "r.0?" "p.0?" "_1_10i" "" "0000118794" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118795" "00000282" "90" "2629" "0" "2629" "0" "c.2629G>A" "r.(?)" "p.(Glu877*)" "22" "" "0000118796" "00000282" "90" "1981" "0" "1981" "0" "c.1981G>C" "r.(?)" "p.(Ala661Pro)" "17" "" "0000118797" "00000282" "90" "2279" "0" "2279" "0" "c.2279A>C" "r.(?)" "p.(His760Pro)" "19" "" "0000118798" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118799" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118800" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "10" "" "0000118801" "00000282" "90" "1851" "-1" "1926" "1" "c.(1850+1_1851-1)_(1926+1_1927-1)del" "r.?" "p.?" "15i_16i" "" "0000118802" "00000282" "90" "2839" "-1" "2919" "1" "c.(2838+1_2839-1)_(2919+1_2920-1)del" "r.?" "p.?" "23i_24i" "" "0000118803" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118804" "00000282" "90" "2666" "0" "2666" "0" "c.2666G>T" "r.(?)" "p.(Gly889Val)" "23" "" "0000118805" "00000282" "90" "2919" "1" "2919" "1" "c.2919+1G>A" "r.spl" "p.?" "24i" "" "0000118806" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118807" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118808" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118809" "00000282" "90" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Pro329Leu)" "7" "" "0000118810" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118811" "00000282" "90" "2175" "0" "2175" "0" "c.2175C>G" "r.(?)" "p.(Tyr725*)" "18" "" "0000118812" "00000282" "90" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "19i" "" "0000118813" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118814" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "20" "" "0000118815" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118816" "00000282" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "10" "" "0000118817" "00000282" "90" "535" "0" "535" "0" "c.535T>A" "r.(?)" "p.(Tyr179Asn)" "4" "" "0000118818" "00000282" "90" "2797" "0" "2797" "0" "c.2797A>T" "r.(?)" "p.(Ile933Phe)" "23" "" "0000118819" "00000282" "90" "959" "0" "969" "0" "c.959_969delinsGGGAG" "r.(?)" "p.(Phe320_Pro323delinsTrpGlu)" "7" "" "0000118820" "00000282" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Pro267Ser)" "6" "" "0000118821" "00000282" "90" "335" "-1" "470" "1" "c.(334+1_335-1)_(470+1_471-1)dup" "r.?" "p.?" "2i_3i" "" "0000118822" "00000282" "90" "976" "0" "976" "0" "c.976T>G" "r.(?)" "p.(Tyr326Asp)" "7" "" "0000118823" "00000282" "90" "1642" "0" "1642" "0" "c.1642C>g" "r.(?)" "p.(Leu548Val)" "13" "" "0000118824" "00000282" "90" "2140" "0" "2140" "0" "c.2140T>C" "r.(?)" "p.(Cys714Arg)" "18" "" "0000118825" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118826" "00000282" "90" "600" "0" "600" "0" "c.600del" "r.(?)" "p.(Thr201Leufs*30)" "4" "" "0000118827" "00000282" "90" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Pro304Leu)" "7" "" "0000118828" "00000282" "90" "2329" "0" "2329" "0" "c.2329G>C" "r.(?)" "p.(Ala777Pro)" "20" "" "0000118829" "00000282" "90" "2919" "5" "2919" "5" "c.2919+5G>C" "r.spl?" "p.?" "24i" "" "0000118830" "00000282" "90" "2963" "0" "2963" "0" "c.2963G>A" "r.(?)" "p.(Arg988Gln)" "25" "" "0000118831" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118832" "00000282" "90" "1183" "0" "1183" "0" "c.1183T>C" "r.(?)" "p.(Phe395Leu)" "9" "" "0000118833" "00000282" "90" "2287" "0" "2287" "0" "c.2287G>C" "r.(?)" "p.(Gly763Arg)" "19" "" "0000118834" "00000282" "90" "1926" "5" "1926" "5" "c.1926+5G>A" "r.spl?" "p.?" "16i" "" "0000118835" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "7" "" "0000118836" "00000282" "90" "437" "0" "437" "0" "c.437C>A" "r.(?)" "p.(Thr146Lys)" "3" "" "0000118837" "00000282" "90" "924" "0" "924" "0" "c.924del" "r.(?)" "p.(Phe308Leufs*3)" "7" "" "0000118838" "00000282" "90" "-1" "0" "713" "1" "c.(?_-1)_(713+1_714-1)del" "r.0?" "p.0?" "_1_5i" "" "0000118839" "00000282" "90" "2111" "0" "2111" "0" "c.2111G>T" "r.(?)" "p.(Gly704Val)" "18" "" "0000118840" "00000282" "90" "-1" "0" "713" "1" "c.(?_-1)_(713+1_714-1)del" "r.0?" "p.0?" "_1_5i" "" "0000118842" "00000282" "90" "2920" "-1" "3063" "1" "c.(2919+1_2920-1)_(3063+1_?)del" "r.?" "p.?" "24i_25_" "" "0000118843" "00000282" "90" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "20" "" "0000118845" "00000282" "90" "-1" "0" "1850" "1" "c.(?_-1)_(1850+1_1851-1)del" "r.0?" "p.0?" "_1_15i" "" "0000118847" "00000282" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "1" "" "0000118848" "00000282" "90" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Lys376Glu)" "8" "" "0000118849" "00000282" "90" "600" "0" "600" "0" "c.600del" "r.(?)" "p.(Thr201Leufs*30)" "4" "" "0000118850" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118852" "00000282" "90" "2798" "0" "2798" "0" "c.2798T>C" "r.(?)" "p.(Ile933Thr)" "23" "" "0000118853" "00000282" "90" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Arg362Cys)" "8" "" "0000118854" "00000282" "90" "636" "-1" "1850" "1" "c.(635+1_636-1)_(1850+1_1851-1)del" "r.?" "p.?" "4i_15i" "" "0000118855" "00000282" "90" "2303" "0" "2303" "0" "c.(2303G>A)" "r.(?)" "p.(Gly768Glu)" "19" "" "0000118856" "00000282" "90" "-1" "0" "470" "1" "c.(?_-1)_(470+1_471-1)del" "r.0?" "p.0?" "_1_3i" "" "0000118857" "00000282" "90" "2714" "0" "2714" "0" "c.2714T>G" "r.(?)" "p.(Val905Gly)" "23" "" "0000118858" "00000282" "90" "1927" "-4" "1927" "-4" "c.1927-4G>A" "r.spl?" "p.?" "16i" "" "0000118859" "00000282" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Trp)" "10" "" "0000118860" "00000282" "90" "924" "0" "924" "0" "c.924del" "r.(?)" "p.(Phe308Leufs*3)" "7" "" "0000118861" "00000282" "90" "-1" "0" "334" "1" "c.(?_-1)_(334+1_335-1)del" "r.0?" "p.0?" "_1_2i" "" "0000118862" "00000282" "90" "799" "0" "799" "0" "c.799C>G" "r.(?)" "p.(Pro267Ala)" "6" "" "0000118863" "00000282" "90" "1156" "-1" "1850" "1" "c.(1155+1_1156-1)_(1850+1_1851-1)del" "r.?" "p.?" "8i_15i" "" "0000118864" "00000282" "90" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843*)" "21" "" "0000118918" "00000282" "11" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Arg410Lys)" "9" "" "0000118919" "00000282" "11" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.Arg410Lys" "9" "" "0000118920" "00000282" "11" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.Val705Met" "18" "" "0000118921" "00000282" "11" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Val705Met)" "18" "" "0000128942" "00000282" "91" "123" "0" "123" "0" "c.123C>G" "r.(=)" "p.(=)" "" "12%" "0000154425" "00000282" "99" "1643" "0" "1643" "0" "c.1643T>C" "r.(1643u>c)" "p.(Leu548Pro)" "13" "" "0000154439" "00000282" "99" "2303" "0" "2303" "0" "c.2303G>A" "r.2303g>a" "p.Gly768Glu" "19" "" "0000244162" "00000282" "90" "2938" "0" "2938" "0" "c.2938A>G" "r.(?)" "p.(Asn980Asp)" "" "" "0000249135" "00000282" "10" "2316" "-6" "2316" "-6" "c.2316-6dup" "r.(=)" "p.(=)" "" "" "0000251460" "00000282" "10" "1850" "87" "1850" "87" "c.1850+87T>A" "r.(=)" "p.(=)" "" "" "0000251461" "00000282" "10" "1261" "37" "1261" "37" "c.1261+37T>A" "r.(=)" "p.(=)" "" "" "0000251462" "00000282" "10" "1058" "75" "1058" "75" "c.1058+75T>A" "r.(=)" "p.(=)" "" "" "0000251463" "00000282" "10" "636" "-109" "636" "-109" "c.636-109T>C" "r.(=)" "p.(=)" "" "" "0000251797" "00000282" "30" "498" "0" "498" "0" "c.498T>C" "r.(?)" "p.(Pro166=)" "" "" "0000251823" "00000282" "30" "871" "0" "871" "0" "c.871T>G" "r.(?)" "p.(Cys291Gly)" "" "" "0000252181" "00000282" "30" "2458" "-95" "2458" "-95" "c.2458-95T>G" "r.(=)" "p.(=)" "" "" "0000252182" "00000282" "30" "636" "-21" "636" "-21" "c.636-21T>A" "r.(=)" "p.(=)" "" "" "0000281060" "00000282" "10" "3070" "0" "3070" "0" "c.*7G>C" "r.(=)" "p.(=)" "" "" "0000281061" "00000282" "70" "1055" "0" "1055" "0" "c.1055C>G" "r.(?)" "p.(Thr352Arg)" "" "" "0000281062" "00000282" "30" "1156" "-7" "1156" "-7" "c.1156-7C>G" "r.(=)" "p.(=)" "" "" "0000281063" "00000282" "10" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Ala569Thr)" "" "" "0000281064" "00000282" "30" "1927" "-9" "1927" "-9" "c.1927-9A>G" "r.(=)" "p.(=)" "" "" "0000281065" "00000282" "70" "2316" "-1" "2316" "-1" "c.2316-1G>A" "r.spl?" "p.?" "" "" "0000281066" "00000282" "10" "52" "0" "52" "0" "c.52G>T" "r.(?)" "p.(Gly18Cys)" "" "" "0000281067" "00000282" "70" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Pro329Leu)" "" "" "0000284662" "00000282" "30" "3070" "0" "3070" "0" "c.*7G>C" "r.(=)" "p.(=)" "" "" "0000284663" "00000282" "90" "1055" "0" "1055" "0" "c.1055C>G" "r.(?)" "p.(Thr352Arg)" "" "" "0000284664" "00000282" "30" "1143" "0" "1143" "0" "c.1143C>A" "r.(?)" "p.(Ile381=)" "" "" "0000284665" "00000282" "30" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Arg410Lys)" "" "" "0000284666" "00000282" "10" "1261" "72" "1261" "72" "c.1261+72G>A" "r.(=)" "p.(=)" "" "" "0000284667" "00000282" "90" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "" "" "0000284668" "00000282" "30" "1384" "0" "1384" "0" "c.1384C>G" "r.(?)" "p.(Leu462Val)" "" "" "0000284670" "00000282" "30" "1402" "-62" "1402" "-62" "c.1402-62G>T" "r.(=)" "p.(=)" "" "" "0000284672" "00000282" "10" "1545" "0" "1545" "0" "c.1545G>A" "r.(?)" "p.(Arg515=)" "" "" "0000284673" "00000282" "90" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Arg515Ser)" "" "" "0000284674" "00000282" "70" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Arg536Gln)" "" "" "0000284675" "00000282" "30" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Ala569Thr)" "" "" "0000284677" "00000282" "10" "1850" "84" "1850" "84" "c.1850+84C>G" "r.(=)" "p.(=)" "" "" "0000284678" "00000282" "10" "1926" "0" "1926" "0" "c.1926G>A" "r.(?)" "p.(Thr642=)" "" "" "0000284679" "00000282" "30" "1927" "-9" "1927" "-9" "c.1927-9A>G" "r.(=)" "p.(=)" "" "" "0000284680" "00000282" "10" "2053" "-5" "2053" "-5" "c.2053-5C>G" "r.spl?" "p.?" "" "" "0000284681" "00000282" "10" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Val705Met)" "" "" "0000284682" "00000282" "30" "2202" "53" "2202" "53" "c.2202+53del" "r.(=)" "p.(=)" "" "" "0000284683" "00000282" "10" "2202" "66" "2202" "66" "c.2202+66del" "r.(=)" "p.(=)" "" "" "0000284684" "00000282" "30" "2203" "0" "2203" "0" "c.2203G>T" "r.(?)" "p.(Val735Leu)" "" "" "0000284685" "00000282" "90" "2281" "0" "2281" "0" "c.2281G>A" "r.(?)" "p.(Gly761Arg)" "" "" "0000284686" "00000282" "30" "228" "0" "228" "0" "c.228A>G" "r.(?)" "p.(Arg76=)" "" "" "0000284687" "00000282" "30" "2380" "0" "2380" "0" "c.2380G>A" "r.(?)" "p.(Ala794Thr)" "" "" "0000284688" "00000282" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Ala802Val)" "" "" "0000284689" "00000282" "90" "2489" "0" "2489" "0" "c.2489C>T" "r.(?)" "p.(Thr830Met)" "" "" "0000284690" "00000282" "10" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(Gly83=)" "" "" "0000284691" "00000282" "70" "2722" "0" "2722" "0" "c.2722A>C" "r.(?)" "p.(Thr908Pro)" "" "" "0000284692" "00000282" "30" "2838" "108" "2838" "108" "c.2838+108C>G" "r.(=)" "p.(=)" "" "" "0000284693" "00000282" "10" "2838" "89" "2838" "89" "c.2838+89C>A" "r.(=)" "p.(=)" "" "" "0000284694" "00000282" "30" "3002" "0" "3002" "0" "c.3002C>A" "r.(?)" "p.(Thr1001Asn)" "" "" "0000284695" "00000282" "10" "438" "0" "438" "0" "c.438G>A" "r.(?)" "p.(Thr146=)" "" "" "0000284696" "00000282" "30" "619" "0" "619" "0" "c.619C>G" "r.(?)" "p.(Leu207Val)" "" "" "0000284697" "00000282" "10" "636" "-77" "636" "-77" "c.636-77A>G" "r.(=)" "p.(=)" "" "" "0000284698" "00000282" "10" "713" "47" "713" "47" "c.713+47A>G" "r.(=)" "p.(=)" "" "" "0000284699" "00000282" "70" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Arg)" "" "" "0000284700" "00000282" "70" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Leu296Phe)" "" "" "0000288404" "00000282" "30" "1156" "-7" "1156" "-7" "c.1156-7C>G" "r.(=)" "p.(=)" "" "" "0000288405" "00000282" "50" "1484" "0" "1489" "0" "c.1484_1489del" "r.(?)" "p.(Glu495_Leu496del)" "" "" "0000288406" "00000282" "10" "1508" "0" "1508" "0" "c.1508A>C" "r.(?)" "p.(Glu503Ala)" "" "" "0000288407" "00000282" "30" "2053" "-5" "2053" "-5" "c.2053-5C>G" "r.spl?" "p.?" "" "" "0000288408" "00000282" "10" "2380" "0" "2380" "0" "c.2380G>A" "r.(?)" "p.(Ala794Thr)" "" "" "0000288409" "00000282" "30" "2487" "0" "2487" "0" "c.2487C>T" "r.(?)" "p.(Ala829=)" "" "" "0000288410" "00000282" "30" "2874" "0" "2874" "0" "c.2874C>T" "r.(?)" "p.(Ser958=)" "" "" "0000288411" "00000282" "30" "3002" "0" "3002" "0" "c.3002C>A" "r.(?)" "p.(Thr1001Asn)" "" "" "0000332560" "00000282" "50" "2188" "0" "2188" "0" "c.2188A>G" "r.(?)" "p.(Asn730Asp)" "" "" "0000332563" "00000282" "50" "292" "0" "292" "0" "c.292A>G" "r.(?)" "p.(Asn98Asp)" "" "" "0000332564" "00000282" "50" "231" "0" "231" "0" "c.231G>C" "r.(?)" "p.(Glu77Asp)" "" "" "0000341953" "00000282" "50" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" "" "" "0000343107" "00000282" "50" "163" "0" "163" "0" "c.163C>G" "r.(?)" "p.(Arg55Gly)" "" "" "0000343780" "00000282" "50" "1578" "0" "1578" "0" "c.1578C>G" "r.(?)" "p.(Asn526Lys)" "" "" "0000346252" "00000282" "50" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Gly744Arg)" "" "" "0000346535" "00000282" "50" "2849" "0" "2849" "0" "c.2849A>G" "r.(?)" "p.(His950Arg)" "" "" "0000347294" "00000282" "50" "2147" "0" "2147" "0" "c.2147T>A" "r.(?)" "p.(Leu716His)" "" "" "0000348109" "00000282" "50" "3007" "0" "3007" "0" "c.3007C>T" "r.(?)" "p.(Pro1003Ser)" "" "" "0000349054" "00000282" "50" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Ser493Phe)" "" "" "0000538325" "00000282" "10" "2839" "-57" "2839" "-57" "c.2839-57A>G" "r.(=)" "p.(=)" "" "" "0000538326" "00000282" "30" "2748" "0" "2748" "0" "c.2748G>A" "r.(?)" "p.(Leu916=)" "" "" "0000538331" "00000282" "30" "2457" "8" "2457" "8" "c.2457+8C>T" "r.(=)" "p.(=)" "" "" "0000538333" "00000282" "30" "2397" "0" "2397" "0" "c.2397C>T" "r.(?)" "p.(Thr799=)" "" "" "0000538336" "00000282" "30" "2159" "0" "2159" "0" "c.2159A>G" "r.(?)" "p.(His720Arg)" "" "" "0000538337" "00000282" "10" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Val705Met)" "" "" "0000538338" "00000282" "90" "1952" "0" "1952" "0" "c.1952A>G" "r.(?)" "p.(His651Arg)" "" "" "0000538339" "00000282" "90" "1718" "0" "1718" "0" "c.1718G>A" "r.(?)" "p.(Trp573Ter)" "" "" "0000538340" "00000282" "30" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Ala569Thr)" "" "" "0000538341" "00000282" "30" "1483" "-71" "1483" "-71" "c.1483-71dup" "r.(=)" "p.(=)" "" "" "0000538342" "00000282" "10" "1401" "48" "1401" "49" "c.1401+48_1401+49insC" "r.(=)" "p.(=)" "" "" "0000538345" "00000282" "50" "1057" "0" "1057" "0" "c.1057A>G" "r.(?)" "p.(Arg353Gly)" "" "" "0000538346" "00000282" "30" "960" "0" "960" "0" "c.960T>G" "r.(?)" "p.(Phe320Leu)" "" "" "0000538347" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "" "" "0000538348" "00000282" "90" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "" "" "0000538349" "00000282" "70" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Thr269Met)" "" "" "0000538350" "00000282" "50" "716" "0" "716" "0" "c.716A>G" "r.(?)" "p.(Tyr239Cys)" "" "" "0000538351" "00000282" "30" "678" "0" "678" "0" "c.678C>T" "r.(?)" "p.(His226=)" "" "" "0000538352" "00000282" "10" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Glu167=)" "" "" "0000538354" "00000282" "10" "319" "0" "319" "0" "c.319A>G" "r.(?)" "p.(Met107Val)" "" "" "0000538355" "00000282" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Pro96Ser)" "" "" "0000538356" "00000282" "30" "52" "0" "52" "0" "c.52G>T" "r.(?)" "p.(Gly18Cys)" "" "" "0000538357" "00000282" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Leu10CysfsTer81)" "" "" "0000538358" "00000282" "90" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Leu10CysfsTer81)" "" "" "0000612151" "00000282" "50" "1000" "0" "1000" "0" "c.1000T>C" "r.(?)" "p.(Phe334Leu)" "" "" "0000612152" "00000282" "30" "190" "0" "190" "0" "c.190G>T" "r.(?)" "p.(Ala64Ser)" "" "" "0000622280" "00000282" "30" "1666" "-6" "1666" "-6" "c.1666-6T>C" "r.(=)" "p.(=)" "" "" "0000622281" "00000282" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337Ter)" "" "" "0000622282" "00000282" "50" "437" "0" "437" "0" "c.437C>T" "r.(?)" "p.(Thr146Met)" "" "" "0000642880" "00000282" "90" "2680" "0" "2680" "0" "c.2680A>G" "r.(?)" "p.(Thr894Ala)" "" "" "0000642881" "00000282" "90" "335" "-1" "470" "1" "c.(334+1_335-1)_(470+1_471-1)del" "r.?" "p.?" "2i_3i" "" "0000652729" "00000282" "70" "2489" "0" "2489" "0" "c.2489C>T" "r.(?)" "p.(Thr830Met)" "" "" "0000652730" "00000282" "70" "2324" "0" "2324" "0" "c.2324A>G" "r.(?)" "p.(His775Arg)" "" "" "0000652731" "00000282" "30" "2203" "0" "2203" "0" "c.2203G>T" "r.(?)" "p.(Val735Leu)" "" "" "0000652732" "00000282" "70" "1742" "0" "1742" "0" "c.1742C>G" "r.(?)" "p.(Pro581Arg)" "" "" "0000656374" "00000282" "30" "498" "0" "498" "0" "c.498T>C" "r.(?)" "p.(Pro166=)" "" "" "0000656375" "00000282" "30" "470" "8" "470" "8" "c.470+8A>G" "r.(=)" "p.(=)" "" "" "0000673643" "00000282" "50" "886" "0" "886" "0" "c.886C>A" "r.(?)" "p.(Leu296Ile)" "" "" "0000673971" "00000282" "90" "862" "-2" "862" "-2" "c.862-2A>G" "r.spl?" "p.?" "" "" "0000673972" "00000282" "90" "2098" "0" "2098" "0" "c.2098C>G" "r.(?)" "p.(Pro700Ala)" "" "" "0000678696" "00000282" "30" "2203" "0" "2203" "0" "c.2203G>T" "r.(?)" "p.(Val735Leu)" "" "" "0000678697" "00000282" "50" "1654" "0" "1654" "0" "c.1654A>C" "r.(?)" "p.(Met552Leu)" "" "" "0000678699" "00000282" "30" "1156" "-7" "1156" "-7" "c.1156-7C>G" "r.(=)" "p.(=)" "" "" "0000678700" "00000282" "30" "1014" "0" "1014" "0" "c.1014A>G" "r.(?)" "p.(Glu338=)" "" "" "0000678701" "00000282" "30" "231" "0" "231" "0" "c.231G>C" "r.(?)" "p.(Glu77Asp)" "" "" "0000690565" "00000282" "70" "1055" "0" "1055" "0" "c.1055C>G" "r.(?)" "p.(Thr352Arg)" "" "" "0000690566" "00000282" "70" "320" "0" "320" "0" "c.320T>G" "r.(?)" "p.(Met107Arg)" "" "" "0000690567" "00000282" "50" "90" "0" "90" "0" "c.90G>T" "r.(?)" "p.(Trp30Cys)" "" "" "0000703985" "00000282" "70" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Pro304Leu)" "7" "" "0000722544" "00000282" "50" "2683" "0" "2683" "0" "c.2683A>G" "r.(?)" "p.(Met895Val)" "" "" "0000786876" "00000282" "90" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596Ter)" "15" "" "0000804164" "00000282" "30" "2964" "0" "2964" "0" "c.2964G>A" "r.(?)" "p.(Arg988=)" "" "" "0000804165" "00000282" "50" "2809" "0" "2809" "0" "c.2809C>T" "r.(?)" "p.(Arg937Cys)" "" "" "0000804166" "00000282" "50" "2446" "0" "2446" "0" "c.2446G>A" "r.(?)" "p.(Ala816Thr)" "" "" "0000804167" "00000282" "30" "1927" "-9" "1927" "-9" "c.1927-9A>G" "r.(=)" "p.(=)" "" "" "0000804168" "00000282" "30" "861" "10" "861" "10" "c.861+10C>T" "r.(=)" "p.(=)" "" "" "0000804169" "00000282" "30" "678" "0" "678" "0" "c.678C>T" "r.(?)" "p.(His226=)" "" "" "0000804170" "00000282" "70" "600" "0" "600" "0" "c.600del" "r.(?)" "p.(Thr201Leufs*30)" "" "" "0000804171" "00000282" "30" "40" "0" "40" "0" "c.40C>A" "r.(?)" "p.(Arg14Ser)" "" "" "0000852296" "00000282" "50" "2988" "0" "2988" "0" "c.2988G>C" "r.(?)" "p.(Gln996His)" "" "" "0000861718" "00000282" "30" "2955" "0" "2955" "0" "c.2955G>A" "r.(?)" "p.(Thr985=)" "" "" "0000861721" "00000282" "30" "609" "0" "609" "0" "c.609C>T" "r.(?)" "p.(Ala203=)" "" "" "0000877957" "00000282" "70" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Gly771Arg)" "" "" "0000882028" "00000282" "70" "861" "5" "861" "5" "c.861+5G>A" "r.spl?" "p.?" "" "" "0000888881" "00000282" "10" "3070" "0" "3070" "0" "c.*7G>C" "r.(=)" "p.(=)" "" "" "0000902685" "00000282" "90" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Arg236Gln)" "" "" "0000909000" "00000282" "50" "2607" "0" "2607" "0" "c.2607C>A" "r.(?)" "p.(Pro869=)" "" "" "0000978742" "00000282" "70" "2938" "0" "2938" "0" "c.2938A>G" "r.(?)" "p.(Asn980Asp)" "" "" "0000978743" "00000282" "30" "2328" "0" "2328" "0" "c.2328C>T" "r.(?)" "p.(=)" "" "" "0000978744" "00000282" "30" "2316" "-6" "2316" "-6" "c.2316-6del" "r.(=)" "p.(=)" "" "" "0000978745" "00000282" "50" "2147" "0" "2147" "0" "c.2147T>A" "r.(?)" "p.(Leu716His)" "" "" "0000978748" "00000282" "10" "1508" "0" "1508" "0" "c.1508A>C" "r.(?)" "p.(Glu503Ala)" "" "" "0000978749" "00000282" "50" "1484" "0" "1489" "0" "c.1484_1489del" "r.(?)" "p.(Glu495_Leu496del)" "" "" "0000989500" "00000282" "90" "2639" "0" "2639" "0" "c.2639A>G" "r.(?)" "p.(Asp880Gly)" "22" "" "0000997917" "00000282" "30" "2730" "0" "2730" "0" "c.2730G>A" "r.(?)" "p.(=)" "" "" "0001014559" "00000282" "10" "2570" "-4496" "2570" "-4493" "c.2570-4496_2570-4493del" "r.(=)" "p.(=)" "" "" "0001037558" "00000282" "70" "2852" "0" "2852" "0" "c.2852C>A" "r.(?)" "p.(Ser951Tyr)" "" "" "0001037559" "00000282" "10" "2570" "-4494" "2570" "-4493" "c.2570-4494_2570-4493del" "r.(=)" "p.(=)" "" "" "0001037560" "00000282" "10" "2570" "-4493" "2570" "-4493" "c.2570-4493del" "r.(=)" "p.(=)" "" "" "0001037561" "00000282" "50" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Gly744Arg)" "" "" "0001037562" "00000282" "50" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Val713Met)" "" "" "0001037563" "00000282" "30" "1156" "-7" "1156" "-7" "c.1156-7C>G" "r.(=)" "p.(=)" "" "" "0001037564" "00000282" "50" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Ala64Thr)" "" "" "0001037565" "00000282" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Gly42Arg)" "" "" "0001046207" "00000282" "30" "2570" "-4495" "2570" "-4493" "c.2570-4495_2570-4493del" "r.(=)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 935 "{{screeningid}}" "{{variantid}}" "0000002132" "0000118863" "0000050504" "0000079484" "0000073928" "0000117724" "0000073928" "0000118302" "0000073929" "0000117725" "0000073930" "0000117726" "0000073931" "0000117727" "0000073931" "0000118303" "0000073932" "0000117728" "0000073932" "0000118304" "0000073933" "0000117729" "0000073933" "0000118305" "0000073934" "0000117730" "0000073934" "0000118306" "0000073935" "0000117731" "0000073935" "0000118307" "0000073936" "0000117732" "0000073937" "0000117733" "0000073937" "0000118308" "0000073938" "0000117734" "0000073938" "0000118309" "0000073939" "0000117735" "0000073939" "0000118310" "0000073940" "0000117736" "0000073940" "0000118311" "0000073941" "0000117737" "0000073942" "0000117738" "0000073942" "0000118312" "0000073943" "0000117739" 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