### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SETX) # 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}}" "SETX" "senataxin" "9" "q34" "no" "LRG_268" "UD_132118490048" "" "http://www.LOVD.nl/SETX" "IPNMDB " "1" "445" "23064" "608465" "1" "1" "1" "1" "This database is one of the gene variant databases from the: Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "http://databases.lovd.nl/shared/refseq/SETX_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-06-10 12:44:45" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018758" "SETX" "senataxin" "001" "NM_015046.5" "" "NP_055861.3" "" "" "" "-183" "10833" "8034" "135230372" "135136827" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01096" "CAMRQ3" "ataxia, cerebellar, and mental retardation with/without quadrupedal locomotion, type 3 (CAMRQ-3)" "AR" "613227" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02422" "ALS4" "sclerosis, lateral, amyotrophic, type type 4 (ALS4)" "AD" "602433" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02569" "SCAN2;SCAR1;AOA2" "ataxia, spinocerebellar, autosomal recrecessive, with axonal neuropathy, type 2 (SCAR1, AOA2)" "AR" "606002" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2024-06-27 12:16:23" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05519" "AOA" "ataxia-oculomotor apraxia (AOA)" "" "" "" "" "" "00006" "2018-11-17 09:09:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SETX" "02422" "SETX" "02569" "SETX" "05519" ## Individuals ## Do not remove or alter this header ## ## Count = 160 "{{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}}" "00037044" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037045" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037046" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037047" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037048" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037049" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037050" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037051" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037052" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037053" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037054" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037055" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037056" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037057" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037058" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037059" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037060" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037061" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037062" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037063" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037064" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037065" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037066" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037067" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037068" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037069" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037070" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037071" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037072" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037073" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037074" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037075" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037076" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037077" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037078" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00073108" "" "" "" "1" "" "01400" "ATX55" "" "M" "no" "France" "" "0" "" "" "" "" "00073111" "" "" "" "1" "" "01400" "ATX66" "" "F" "no" "France" "" "0" "" "" "" "" "00073114" "" "" "" "1" "" "01400" "ATX643" "" "M" "" "France" "" "0" "" "" "" "" "00073117" "" "" "" "1" "" "01400" "ATX163" "" "M" "no" "France" "" "0" "" "" "" "" "00073187" "" "" "" "1" "" "01400" "ATX95" "" "F" "" "France" "" "0" "" "" "" "" "00073207" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Algeria" "" "0" "" "" "" "" "00073208" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Algeria" "" "0" "" "" "" "" "00073209" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Canada" "" "0" "" "" "" "" "00073210" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Viet Nam" "" "0" "" "" "" "" "00073211" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "France" "" "0" "" "" "" "" "00073212" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "France" "" "0" "" "" "" "" "00073213" "" "" "" "2" "" "00006" "{PMID:Moreira 2004:14770181}" "family, 2 affecteds" "" "" "Portugal" "" "0" "" "" "Cabo Verde" "" "00073214" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Portugal" "" "0" "" "" "" "" "00073215" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Spain" "" "0" "" "" "" "" "00073216" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Turkey" "" "0" "" "" "" "" "00073217" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Japan" "" "0" "" "" "" "" "00073218" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Japan" "" "0" "" "" "" "" "00073219" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00073220" "" "" "" "2" "" "00006" "{PMID:Moreira 2004:14770181}" "family, 2 affecteds" "" "" "Tunisia" "" "0" "" "" "" "" "00073221" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073222" "" "" "" "1" "" "00006" "{PMID:Chen 2004:15106121}" "" "" "" "" "" "0" "" "" "" "" "00073223" "" "" "" "1" "" "00006" "{PMID:Chen 2004:15106121}" "" "" "" "" "" "0" "" "" "" "" "00073224" "" "" "" "1" "" "00006" "{PMID:Chen 2004:15106121}" "" "" "" "" "" "0" "" "" "" "" "00073225" "" "" "" "1" "" "00006" "{PMID:Duquette 2005:15732101}" "" "" "" "" "" "0" "" "" "" "" "00073226" "" "" "" "1" "" "00006" "{PMID:Fogel 2006:17159128}" "" "" "" "" "" "0" "" "" "" "" "00073227" "" "" "" "1" "" "00006" "{PMID:Anheim 2008:18625865}" "" "" "" "" "" "0" "" "" "" "" "00073228" "" "" "" "1" "" "00006" "{PMID:Airoldi 2010:19593598}" "" "" "" "" "" "0" "" "" "" "" "00073229" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "" "" "0" "" "" "" "" "00073230" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "" "" "0" "" "" "" "" "00073231" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "" "" "0" "" "" "" "" "00073232" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "" "" "0" "" "" "" "" "00073233" "" "" "" "1" "" "00006" "{PMID:Moreira 2004:14770181}" "" "" "" "Turkey" "" "0" "" "" "" "" "00073234" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073235" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073236" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073237" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073238" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073239" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073240" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073241" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073242" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073243" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073244" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073245" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "" "" "0" "" "" "" "" "00073246" "" "" "" "1" "" "00006" "{PMID:Nakamura 2009:19893583}" "" "" "" "" "" "0" "" "" "" "" "00073247" "" "" "" "1" "" "00006" "{PMID:Fogel 2006:17159128}" "" "" "" "" "" "0" "" "" "" "" "00073248" "" "" "" "1" "" "00006" "{PMID:Airoldi 2010:19593598}" "" "" "" "" "" "0" "" "" "" "" "00073249" "" "" "" "2" "" "00006" "{PMID:Bassuk 2007:17096168}" "affected mother and daugther" "F" "no" "United States" "" "0" "" "" "African American" "" "00073250" "" "" "" "1" "" "00006" "{PMID:Duquette 2005:15732101}" "" "" "" "" "" "0" "" "" "" "" "00073251" "" "" "" "1" "" "00006" "{PMID:Arning 2008:18663494}" "" "" "" "" "" "0" "" "" "" "" "00073252" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073253" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073254" "" "" "" "1" "" "00006" "{PMID:Gazulla 2009:19618424}" "" "" "" "" "" "0" "" "" "" "" "00073255" "" "" "" "1" "" "00006" "{PMID:Schols 2008:18350359}" "" "" "" "" "" "0" "" "" "" "" "00073256" "" "" "" "1" "" "00006" "{PMID:Fogel 2006:17159128}" "" "" "" "" "" "0" "" "" "" "" "00073257" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073258" "" "" "" "1" "" "00006" "{PMID:Zhao 2009:19058054}" "" "" "" "" "" "0" "" "" "" "" "00073259" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073260" "" "" "" "2" "" "00006" "{PMID:Asaka 2006:16717225}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents/sibs" "M" "yes" "Japan" "" "0" "" "" "" "" "00073261" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073262" "" "" "" "1" "" "00006" "{PMID:Bernard 2008:19569000}" "" "" "" "" "" "0" "" "" "" "" "00073263" "" "" "" "1" "" "00006" "{PMID:Bernard 2009:19744353}" "" "" "" "" "" "0" "" "" "" "" "00073264" "" "" "" "1" "" "00006" "{PMID:Hirano 2011:21190393}" "" "" "" "" "" "0" "" "" "" "" "00073265" "" "" "" "1" "" "00006" "{PMID:Bernard 2009:19744353}" "" "" "" "" "" "0" "" "" "" "" "00073266" "" "" "" "1" "" "00006" "{PMID:Nicolaou 2008:18405395}" "" "" "" "" "" "0" "" "" "" "" "00073267" "" "" "" "1" "" "00006" "{PMID:Haack 2009:19377860}" "" "" "" "" "" "0" "" "" "" "" "00073268" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073269" "" "" "" "1" "" "00006" "{PMID:Fogel 2006:17159128}" "" "" "" "" "" "0" "" "" "" "" "00073270" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073271" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073272" "" "" "" "1" "" "00006" "{PMID:Hirano 2011:21190393}" "" "" "" "" "" "0" "" "" "" "" "00073273" "" "" "" "1" "" "00006" "{PMID:Fogel 2009:19727998}" "" "" "" "" "" "0" "" "" "" "" "00073274" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073275" "" "" "" "1" "" "00006" "{PMID:Bernard 2008:19569000}" "" "" "" "" "" "0" "" "" "" "" "00073276" "" "" "" "1" "" "00006" "{PMID:Fogel 2006:17159128}" "" "" "" "" "" "0" "" "" "" "" "00073277" "" "" "" "1" "" "00006" "{PMID:Bernard 2008:19569000}" "" "" "" "" "" "0" "" "" "" "" "00073278" "" "" "" "1" "" "00006" "{PMID:Anheim 2008:18625865}" "" "" "" "" "" "0" "" "" "" "" "00073279" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073280" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073281" "" "" "" "1" "" "00006" "{PMID:Bohlega 2011:21324166}" "" "" "" "" "" "0" "" "" "" "" "00073282" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073283" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073284" "" "" "" "1" "" "00006" "{PMID:Chen 2006:16644229}" "" "" "" "" "" "0" "" "" "" "" "00073285" "" "" "" "1" "" "00006" "{PMID:Bernard 2008:19569000}" "" "" "" "" "" "0" "" "" "" "" "00073286" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073287" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073288" "" "" "" "1" "" "00006" "{PMID:Bernard 2008:19569000}" "" "" "" "" "" "0" "" "" "" "" "00073289" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073290" "" "" "" "1" "" "00006" "{PMID:Anheim 2009:19696032}" "" "" "" "" "" "0" "" "" "" "" "00073291" "" "" "" "1" "" "00006" "{PMID:Bernard 2008:19569000}" "" "" "" "" "" "0" "" "" "" "" "00073292" "" "" "" "1" "" "00006" "{PMID:Bernard 2008:19569000}" "" "" "" "" "" "0" "" "" "" "" "00073293" "" "" "" "1" "" "00006" "{PMID:Anheim 2008:18625865}" "" "" "" "" "" "0" "" "" "" "" "00073294" "" "" "" "1" "" "00006" "{PMID:Hirano 2011:21190393}" "" "" "" "" "" "0" "" "" "" "" "00073295" "" "" "" "1" "" "00006" "{PMID:Bernard 2008:19569000}" "" "" "" "" "" "0" "" "" "" "" "00144434" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00154949" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00210190" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00294776" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294777" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294778" "" "" "" "115" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294779" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294780" "" "" "" "63" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302668" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00305229" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305230" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362267" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "166715" "00374479" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2642" "00374481" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2844" "00374482" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4214" "00374629" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4510" "00374778" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1738" "00374847" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2102" "00374848" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3330" "00374849" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3722" "00391017" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "169715" "00398061" "" "" "" "1" "" "00435" "" "" "M" "yes" "Egypt" "" "0" "" "" "Egyptian" "" "00404122" "" "" "" "3" "" "00435" "" "" "M" "" "Egypt" "" "" "" "" "" "" "00404123" "" "" "" "4" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00414476" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP143" "00443439" "" "" "" "6" "" "00006" "{PMID:Saadi 2023:37510308}" "5-generation family, 6 affected (3F, 3M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamIPatV1" "00443440" "" "" "00443439" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "FamIPatV8" "00443441" "" "" "00443439" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "relative" "F" "yes" "Pakistan" "" "0" "" "" "" "FamIPatV11" "00451623" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00455790" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat30" "00455791" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat31" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 135 "{{individualid}}" "{{diseaseid}}" "00037047" "00198" "00037048" "00198" "00037049" "00198" "00037050" "00198" "00037052" "00198" "00037054" "00198" "00037061" "00198" "00037068" "00198" "00037070" "00198" "00037071" "00198" "00037072" "00198" "00073108" "02569" "00073111" "02569" "00073114" "02569" "00073117" "02569" "00073187" "02569" "00073207" "02569" "00073208" "02569" "00073209" "02569" "00073210" "02569" "00073211" "02569" "00073212" "02569" "00073213" "02569" "00073214" "02569" "00073215" "02569" "00073216" "02569" "00073217" "02569" "00073218" "02569" "00073219" "02569" "00073220" "02569" "00073221" "02569" "00073222" "02422" "00073223" "02422" "00073224" "02422" "00073225" "02569" "00073226" "02569" "00073227" "02569" "00073228" "02569" "00073229" "02569" "00073230" "02569" "00073231" "02569" "00073232" "02569" "00073233" "02569" "00073234" "00198" "00073235" "00198" "00073236" "00198" "00073237" "00198" "00073238" "00198" "00073239" "00198" "00073240" "00198" "00073241" "00198" "00073242" "00198" "00073243" "00198" "00073244" "00198" "00073245" "00198" "00073246" "02569" "00073247" "02569" "00073248" "02569" "00073249" "00198" "00073250" "00198" "00073251" "02569" "00073252" "02569" "00073253" "02569" "00073254" "02569" "00073255" "02569" "00073256" "02569" "00073257" "02569" "00073258" "04255" "00073259" "02569" "00073260" "02569" "00073261" "02569" "00073262" "02569" "00073263" "02569" "00073264" "04255" "00073265" "02569" "00073266" "02569" "00073267" "02569" "00073268" "02569" "00073269" "02569" "00073270" "02569" "00073271" "02569" "00073272" "04255" "00073273" "02569" "00073274" "02569" "00073275" "02569" "00073276" "02569" "00073277" "02569" "00073278" "02569" "00073279" "02569" "00073280" "02569" "00073281" "02569" "00073282" "02569" "00073283" "02569" "00073284" "02569" "00073285" "02569" "00073286" "02569" "00073287" "02569" "00073288" "02569" "00073289" "02569" "00073290" "02569" "00073291" "02569" "00073292" "02569" "00073293" "02569" "00073294" "04255" "00073295" "02569" "00144434" "00198" "00154949" "00198" "00294776" "00198" "00294777" "00198" "00294778" "00198" "00294779" "00198" "00294780" "00198" "00302668" "00198" "00305229" "00198" "00305230" "00198" "00362267" "01096" "00374479" "00198" "00374481" "00198" "00374482" "00198" "00374629" "00198" "00374778" "00198" "00374847" "00198" "00374848" "00198" "00374849" "00198" "00391017" "02569" "00398061" "05356" "00404122" "04167" "00404123" "05519" "00414476" "00198" "00443439" "00198" "00443440" "00198" "00443441" "00198" "00451623" "05356" "00455790" "00198" "00455791" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01096, 02422, 02569, 04167, 04255, 05356, 05519 ## Count = 129 "{{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}}" "0000052864" "02569" "00073108" "01400" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052865" "02569" "00073111" "01400" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052878" "02569" "00073207" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052879" "02569" "00073208" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052880" "02569" "00073209" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052881" "02569" "00073210" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052882" "02569" "00073211" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052883" "02569" "00073212" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052884" "02569" "00073213" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052885" "02569" "00073214" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052886" "02569" "00073215" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052887" "02569" "00073216" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052888" "02569" "00073217" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052889" "02569" "00073218" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052890" "02569" "00073219" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052891" "02569" "00073220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052892" "02569" "00073221" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052893" "02422" "00073222" "00006" "Unknown" "" "juvenile" "" "" "" "" "" "" "" "" "" "" "" "0000052894" "02422" "00073223" "00006" "Unknown" "" "juvenile" "" "" "" "" "" "" "" "" "" "" "" "0000052895" "02422" "00073224" "00006" "Unknown" "" "juvenile" "" "" "" "" "" "" "" "" "" "" "" "0000052896" "02569" "00073225" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052897" "02569" "00073226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052898" "02569" "00073227" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052899" "02569" "00073228" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052900" "02569" "00073229" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052901" "02569" "00073230" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052902" "02569" "00073231" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052903" "02569" "00073232" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052904" "02569" "00073233" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052905" "00198" "00073234" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052906" "00198" "00073235" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052907" "00198" "00073236" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052908" "00198" "00073237" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052909" "00198" "00073238" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052910" "00198" "00073239" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052911" "00198" "00073240" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052912" "00198" "00073241" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052913" "00198" "00073242" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052914" "00198" "00073243" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052915" "00198" "00073244" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052916" "00198" "00073245" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052917" "02569" "00073246" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052918" "02569" "00073247" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052919" "02569" "00073248" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052920" "00198" "00073249" "00006" "Unknown" "" "frequent falls, oculomotor deficits, tremor; neither had peripheral neuropathy or \'head thrusting\' associated with horizontal gaze, both classic findings in SCAR1" "" "" "" "" "" "" "" "" "" "" "" "0000052921" "00198" "00073250" "00006" "Unknown" "" "ataxia with neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000052922" "02569" "00073251" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052923" "02569" "00073252" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052924" "02569" "00073253" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052925" "02569" "00073254" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052926" "02569" "00073255" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052927" "02569" "00073256" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052928" "02569" "00073257" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052929" "04255" "00073258" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052930" "02569" "00073259" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052931" "02569" "00073260" "00006" "Familial, autosomal recessive" "" "late-teenage onset severe cerebellar ataxia with rapid progression, peripheral neuropathy, increased serum AFP, distal muscle atrophy, unclear oculomotor apraxia" "" "" "" "" "" "" "" "" "" "" "" "0000052932" "02569" "00073261" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052933" "02569" "00073262" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052934" "02569" "00073263" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052935" "04255" "00073264" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052936" "02569" "00073265" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052937" "02569" "00073266" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052938" "02569" "00073267" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052939" "02569" "00073268" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052940" "02569" "00073269" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052941" "02569" "00073270" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052942" "02569" "00073271" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052943" "04255" "00073272" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052944" "02569" "00073273" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052945" "02569" "00073274" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052946" "02569" "00073275" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052947" "02569" "00073276" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052948" "02569" "00073277" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052949" "02569" "00073278" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052950" "02569" "00073279" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052951" "02569" "00073280" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052952" "02569" "00073281" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052953" "02569" "00073282" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052954" "02569" "00073283" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052955" "02569" "00073284" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052956" "02569" "00073285" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052957" "02569" "00073286" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052958" "02569" "00073287" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052959" "02569" "00073288" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052960" "02569" "00073289" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052961" "02569" "00073290" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052962" "02569" "00073291" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052963" "02569" "00073292" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052964" "02569" "00073293" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052965" "04255" "00073294" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052966" "02569" "00073295" "00006" "Unknown" "" "ataxia-ocular apraxia 2" "" "" "" "" "" "" "" "" "" "" "" "0000052967" "00198" "00037052" "01164" "Unknown" "" "stumbling in childhood, since many years hypotrophy lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie" "" "" "" "" "" "" "" "" "" "" "" "0000052968" "02569" "00073117" "01400" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052969" "02569" "00073187" "01400" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052970" "02569" "00073114" "01400" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000117202" "00198" "00144434" "01807" "Unknown" "" "HP:0001271 (Polyneuropathy)" "" "" "" "" "" "" "" "" "" "" "" "0000127681" "00198" "00154949" "01807" "Unknown" "" "Polyneuropathy (HP:0001271); Progressive cerebellar ataxia (HP:0002073); Cerebellar atrophy (HP:0001272); Nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000156797" "00198" "00037047" "01164" "Unknown" "" "stumbling in childhood, since many years hypotrophy of lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000156798" "00198" "00037048" "01164" "Unknown" "" "stumbling in childhood, since many years hypotrophy of lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000156799" "00198" "00037049" "01164" "Unknown" "" "stumbling in childhood, since many years hypotrophy of lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000156800" "00198" "00037050" "01164" "Unknown" "" "stumbling in childhood, since many years hypotrophy of lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000156801" "00198" "00037054" "01164" "Unknown" "" "stumbling in childhood, since many years hypotrophy of lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000156802" "00198" "00037061" "01164" "Unknown" "" "suspected spinal muscle atrophy type Vulpian Duchenne Aran" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy?" "" "0000156803" "00198" "00037068" "01164" "Unknown" "" "suspected cerebellar ataxia with progressive gait disorder" "" "" "" "" "" "" "" "" "" "cerebellar ataxia?" "" "0000156804" "00198" "00037070" "01164" "Unknown" "" "suspected MND/ALS, cramps in the calf, atrophy of hand muscles left, paresis of dorsal flexor of the food (left)" "" "" "" "" "" "" "" "" "" "MND/ALS?" "" "0000156805" "00198" "00037071" "01164" "Unknown" "" "oculomotor apraxia 2" "" "" "" "" "" "" "" "" "" "oculomotor apraxia" "" "0000156806" "00198" "00037072" "01164" "Unknown" "" "suspected MND/ ALS, cramps in the calf, atrophy of hand muscles left, paresis of dorsal flexor of the food (left)" "" "" "" "" "" "" "" "" "" "MND/ALS?" "" "0000158757" "00198" "00210190" "01164" "Unknown" "" "HP:0002450 (Abnormal motor neuron morphology)" "" "" "" "" "" "" "" "" "" "" "" "0000229749" "00198" "00302668" "01164" "Unknown" "" "Abnormality of the musculature (HP:0003011); Ataxia (HP:0001251); Generalized muscle weakness (HP:0003324)" "" "" "" "" "" "" "" "" "" "" "" "0000257678" "01096" "00362267" "01164" "Unknown" "07y" "(+) Ataxia,(+) Global developmental delay,(+) Gait ataxia,(+) Abnormality of coordination,(+) Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000269689" "00198" "00374479" "00006" "Familial, autosomal recessive" "" "Gait imbalance and dysarthria for the past 6 years. Alpha-fetoprotein was elevated and a CT scan showed cerebellar atrophy" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269691" "00198" "00374481" "00006" "Familial, autosomal recessive" "" "Difficulty in walking, climbing stairs and speaking, tremors, nystagmus, pes cavus, hypertrophy of dorsal extension, mild scoliosis and was positive for Romberg\'s sign" "" "" "" "" "" "" "" "" "" "ataxia, neuropathy" "" "0000269692" "00198" "00374482" "00006" "Familial, autosomal recessive" "" "Spasticity of lower limbs, scoliosis and developmental delay" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000269839" "00198" "00374629" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269988" "00198" "00374778" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000270057" "00198" "00374847" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000270058" "00198" "00374848" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000270059" "00198" "00374849" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000284505" "02569" "00391017" "01164" "Familial, autosomal recessive" "19y" "Ataxia, Progressive cerebellar ataxia," "" "" "" "" "" "" "" "" "" "" "" "0000291171" "05356" "00398061" "00435" "Familial, autosomal recessive" "22y" "In this family, the proband and his older sister were affected. The proband was 22-year-old at time of examination. Both were products of uneventful pregnancy and delivery of consanguineous parents. The proband attained all milestones but with mental delay. At the age of 12 years, he developed progressive gait disturbance (ataxia). At age of 19 years, he developed intension tremors in both hands. Also, he developed mild dysarthria (staccato speech). There was no history of weakness of upper or lower limbs, sphincter disturbance, cognitive deterioration or cranial nerve abnormalities. There was no history of DM. The patient still walked without support at presentation. There was positive family history of an older sister with similar condition with onset at the age of 16. She also still walked with mild support. Neurological examination of the proband revealed mental subnormality, feature of ataxia (staccato speech, bilateral horizontal nystagmus and limbs and gait ataxia and wide base stance). There was bilateral pes cavus, wasting of small muscle of hand, lower third of leg and dorsal feet muscles. Muscle power was intact all over except weak toe and ankle dorsiflexion (grade 4b). The deep tendon reflexes were lost in both upper and lower limbs. There was deep sensory impairment manifested as Romberg’s sign (positive), lost sense of vibration and fine movement sense. The planter reflex showed no response bilaterally. There were normal cranial nerves examination, superficial sensation and intact abdominal reflexes. MRI brain was not available but CT-brain was normal. Nerve conduction velocity study (NCS) of both upper and lower limbs showed mixed demyelinating and axonal sensory polyneuropathy of the 4 limbs. The main phenotype is mixed ataxia, feature of neuropathy with mental sub normality." "12y" "" "" "" "" "" "" "" "spinocerebellar ataxia, recessive, non-Friedreich type 1" "Autosomal recessive cerebellar ataxia" "" "0000296711" "04167" "00404122" "00435" "Familial, autosomal recessive" "17y" "20-y male with progressive ataxia, abnormal ocular eye movement, cognitive impairment distal lower limb weakness and peripheral neuropathy." "13y" "" "" "" "" "" "" "" "AOA2" "SCA" "" "0000296712" "05519" "00404123" "00435" "Familial, autosomal recessive" "27y" "32-y male with progressive ataxia, ocular apraxia, peripheral neuropathy and bilateral Babinski sign" "16y" "" "" "" "" "" "" "" "AOA2" "" "" "0000306311" "00198" "00414476" "00000" "Familial, autosomal dominant" "56y" "" "" "" "" "" "" "" "" "" "Amyotrophic Lateral Sclerosis 4" "" "" "0000332780" "00198" "00443439" "00006" "Familial, autosomal recessive" "32y" "progressive ataxic gait, experienced febrile seizure till 8 years of age, action tremor, dysarthria, nystagmus" "12y" "" "" "" "" "" "" "" "SCAN2" "ataxia" "" "0000332781" "00198" "00443440" "00006" "Familial, autosomal recessive" "37y" "progressive ataxic gait, choreic movement, nystagmus" "15y" "" "" "" "" "" "" "" "SCAN2" "ataxia" "" "0000332782" "00198" "00443441" "00006" "Familial, autosomal recessive" "23y" "progressive ataxic gait, choreic movements, weak eyesight, fainting episodes" "16y" "" "" "" "" "" "" "" "SCAN2" "ataxia" "" "0000340289" "05356" "00451623" "03544" "Isolated (sporadic)" "" "HP:0002073, HP:0003678, HP:0002076, HP:0000639, HP:0007108" "" "" "" "" "" "" "" "" "SCAN2" "ataxia" "" "0000344323" "00198" "00455790" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SCAN2" "neurogenetic diseases" "" "0000344324" "00198" "00455791" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SCAN2" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 161 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037114" "00037044" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037115" "00037045" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037116" "00037046" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037117" "00037047" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037118" "00037048" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037119" "00037049" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037120" "00037050" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037121" "00037051" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037122" "00037052" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037123" "00037053" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037124" "00037054" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037125" "00037055" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037126" "00037056" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037127" "00037057" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037128" "00037058" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037129" "00037059" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037130" "00037060" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037131" "00037061" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037132" "00037062" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037133" "00037063" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037134" "00037064" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037135" "00037065" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037136" "00037066" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037137" "00037067" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037138" "00037068" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037139" "00037069" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037140" "00037070" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037141" "00037071" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037142" "00037072" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037143" "00037073" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037144" "00037074" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037145" "00037075" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037146" "00037076" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037147" "00037077" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037148" "00037078" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000073265" "00073108" "1" "01400" "01400" "2016-06-07 10:45:45" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000073270" "00073111" "1" "01400" "01400" "2016-06-07 11:37:43" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000073273" "00073114" "1" "01400" "01400" "2016-06-07 11:53:13" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000073275" "00073117" "1" "01400" "01400" "2016-06-07 12:02:59" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000073346" "00073187" "1" "01400" "01400" "2016-06-09 15:04:59" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000073366" "00073207" "1" "00006" "00006" "2010-06-18 15:36:19" "" "" "SEQ" "DNA" "" "" "0000073367" "00073208" "1" "00006" "00006" "2010-06-18 15:36:19" "" "" "SEQ" "DNA" "" "" "0000073368" "00073209" "1" "00006" "00006" "2010-06-18 15:36:19" "" "" "SEQ" "DNA" "" "" "0000073369" "00073210" "1" "00006" "00006" "2010-06-18 15:36:19" "" "" "SEQ" "DNA" "" "" "0000073370" "00073211" "1" "00006" "00006" "2010-06-18 15:36:19" "" "" "SEQ" "DNA" "" "" "0000073371" "00073212" "1" "00006" "00006" "2010-06-18 15:36:19" "" "" "SEQ" "DNA" "" "" 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"0000073438" "00073279" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073439" "00073280" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073440" "00073281" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073441" "00073282" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073442" "00073283" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073443" "00073284" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073444" "00073285" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073445" "00073286" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073446" "00073287" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073447" "00073288" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073448" "00073289" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073449" "00073290" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073450" "00073291" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073451" "00073292" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073452" "00073293" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073453" "00073294" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000073454" "00073295" "1" "00006" "00006" "2012-11-07 12:13:41" "" "" "SEQ" "DNA" "" "" "0000145292" "00144434" "0" "01807" "01807" "2017-12-13 15:18:03" "" "" "SEQ" "DNA" "" "" "0000155809" "00154949" "0" "01807" "01807" "2018-03-07 03:32:31" "" "" "SEQ" "DNA" "" "" "0000155810" "00154949" "0" "01807" "01807" "2018-03-07 03:32:31" "" "" "SEQ" "DNA" "" "" "0000211266" "00210190" "1" "01164" "01164" "2018-12-27 15:49:43" "" "" "SEQ-NG" "DNA" "" "" "0000295944" "00294776" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295945" "00294777" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295946" "00294778" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295947" "00294779" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295948" "00294780" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303793" "00302668" "1" "01164" "01164" "2020-05-27 17:16:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306358" "00305229" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306359" "00305230" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000363496" "00362267" "1" "01164" "01164" "2021-04-19 16:44:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000375673" "00374479" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375675" "00374481" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375676" "00374482" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375823" "00374629" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375972" "00374778" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376041" "00374847" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376042" "00374848" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376043" "00374849" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000392258" "00391017" "1" "01164" "01164" "2021-11-12 15:31:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000399304" "00398061" "1" "00435" "00435" "2021-12-31 02:02:13" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000405360" "00404122" "1" "00435" "00435" "2022-02-27 21:26:35" "" "" "SEQ" "DNA" "blood" "" "0000405361" "00404123" "1" "00435" "00435" "2022-02-27 21:40:21" "" "" "SEQ" "DNA" "blood" "" "0000415756" "00414476" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000444928" "00443439" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444929" "00443440" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444930" "00443441" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000453225" "00451623" "1" "03544" "03544" "2024-06-17 14:15:03" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000457406" "00455790" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457407" "00455791" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 144 "{{screeningid}}" "{{geneid}}" "0000037114" "SETX" "0000037115" "SETX" "0000037116" "SETX" "0000037117" "SETX" "0000037118" "SETX" "0000037119" "SETX" "0000037120" "SETX" "0000037121" "SETX" "0000037122" "SETX" "0000037123" "SETX" "0000037124" "SETX" "0000037125" "SETX" "0000037126" "SETX" "0000037127" "SETX" "0000037128" "SETX" "0000037129" "SETX" "0000037130" "SETX" "0000037131" "SETX" "0000037132" "SETX" "0000037133" "SETX" "0000037134" "SETX" "0000037135" "SETX" "0000037136" "SETX" "0000037137" "SETX" "0000037138" "SETX" "0000037139" "SETX" "0000037140" "SETX" "0000037141" "SETX" "0000037142" "SETX" "0000037143" "SETX" "0000037144" "SETX" "0000037145" "SETX" "0000037146" "SETX" "0000037147" "SETX" "0000037148" "SETX" "0000073265" "SETX" "0000073270" "SETX" "0000073273" "SETX" "0000073275" "SETX" "0000073346" "SETX" "0000073366" "SETX" "0000073367" "SETX" "0000073368" "SETX" "0000073369" "SETX" "0000073370" "SETX" "0000073371" "SETX" "0000073372" "SETX" "0000073373" "SETX" "0000073374" "SETX" "0000073375" "SETX" "0000073376" "SETX" "0000073377" "SETX" "0000073378" "SETX" "0000073379" "SETX" "0000073380" "SETX" "0000073381" "SETX" "0000073382" "SETX" "0000073383" "SETX" "0000073384" "SETX" "0000073385" "SETX" "0000073386" "SETX" "0000073387" "SETX" "0000073388" "SETX" "0000073389" "SETX" "0000073390" "SETX" "0000073391" "SETX" "0000073392" "SETX" "0000073393" "SETX" "0000073394" "SETX" "0000073395" "SETX" "0000073396" "SETX" "0000073397" "SETX" "0000073398" "SETX" "0000073399" "SETX" "0000073400" "SETX" "0000073401" "SETX" "0000073402" "SETX" "0000073403" "SETX" "0000073404" "SETX" "0000073405" "SETX" "0000073406" "SETX" "0000073407" "SETX" "0000073408" "SETX" "0000073409" "SETX" "0000073410" "SETX" "0000073411" "SETX" "0000073412" "SETX" "0000073413" "SETX" "0000073414" "SETX" "0000073415" "SETX" "0000073416" "SETX" "0000073417" "SETX" "0000073418" "SETX" "0000073419" "SETX" "0000073420" "SETX" "0000073421" "SETX" "0000073422" "SETX" "0000073423" "SETX" "0000073424" "SETX" "0000073425" "SETX" "0000073426" "SETX" "0000073427" "SETX" "0000073428" "SETX" "0000073429" "SETX" "0000073430" "SETX" "0000073431" "SETX" "0000073432" "SETX" "0000073433" "SETX" "0000073434" "SETX" "0000073435" "SETX" "0000073436" "SETX" "0000073437" "SETX" "0000073438" "SETX" "0000073439" "SETX" "0000073440" "SETX" "0000073441" "SETX" "0000073442" "SETX" "0000073443" "SETX" "0000073444" "SETX" "0000073445" "SETX" "0000073446" "SETX" "0000073447" "SETX" "0000073448" "SETX" "0000073449" "SETX" "0000073450" "SETX" "0000073451" "SETX" "0000073452" "SETX" "0000073453" "SETX" "0000073454" "SETX" "0000363496" "CA8" "0000363496" "SETX" "0000375673" "SETX" "0000375675" "SETX" "0000375676" "SETX" "0000375823" "SETX" "0000375972" "LRSAM1" "0000376041" "SETX" "0000376042" "SETX" "0000376043" "SETX" "0000392258" "SETX" "0000399304" "SETX" "0000405360" "SETX" "0000405361" "SETX" "0000415756" "SETX" ## 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 = 585 "{{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}}" "0000064239" "1" "10" "9" "135150834" "135150834" "subst" "0" "01164" "SETX_000092" "g.135150834A>G" "" "" "" "" "" "Germline" "" "rs2296866" "0" "" "" "g.132275447A>G" "" "benign" "" "0000064240" "1" "10" "9" "135152439" "135152439" "subst" "0.0883171" "01164" "SETX_000094" "g.135152439A>G" "" "" "" "" "" "Germline" "" "rs17148873" "0" "" "" "g.132277052A>G" "" "benign" "" "0000064241" "1" "50" "9" "135156789" "135156789" "del" "0" "01164" "SETX_000097" "g.135156789del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132281402del" "" "VUS" "" "0000064242" "1" "10" "9" "135153668" "135153668" "subst" "0.375674" "01164" "SETX_000095" "g.135153668C>T" "" "" "" "" "" "Germline" "" "rs11243704" "0" "" "" "g.132278281C>T" "" "benign" "" "0000064243" "1" "10" "9" "135172412" "135172412" "subst" "0.263443" "01164" "SETX_000055" "g.135172412A>G" "" "" "" "" "" "Germline" "" "rs2296869" "0" "" "" "g.132297025A>G" "" "benign" "" "0000064244" "1" "10" "9" "135173685" "135173685" "subst" "0.263904" "01164" "SETX_000053" "g.135173685T>C" "" "" "" "" "" "Germline" "" "rs2296871" "0" "" "" "g.132298298T>C" "" "benign" "" "0000064245" "1" "10" "9" "135173758" "135173758" "subst" "0" "01164" "SETX_000105" "g.135173758G>T" "" "" "" "" "" "Germline" "" "rs6597570" "0" "" "" "g.132298371G>T" "" "benign" "" "0000064246" "1" "10" "9" "135230100" "135230100" "subst" "0" "01164" "SETX_000117" "g.135230100G>A" "" "" "" "" "c.-115+204C>T laut Alamut" "Germline" "" "rs517076" "0" "" "" "g.132354713G>A" "" "benign" "" "0000064247" "1" "10" "9" "135187128" "135187128" "subst" "0.245991" "01164" "SETX_000051" "g.135187128G>A" "" "" "" "" "" "Germline" "" "rs2296872" "0" "" "" "g.132311741G>A" "" "benign" "" "0000064248" "1" "10" "9" "135139826" "135139826" "subst" "0.0842952" "01164" "SETX_000088" "g.135139826T>C" "" "" "" "" "" "Germline" "" "rs3739927" "0" "" "" "g.132264439T>C" "" "benign" "" "0000064249" "1" "10" "9" "135172163" "135172163" "subst" "0" "01164" "SETX_000102" "g.135172163T>C" "" "" "" "" "" "Germline" "" "rs2296868" "0" "" "" "g.132296776T>C" "" "benign" "" "0000064250" "1" "10" "9" "135203231" "135203231" "subst" "0.736471" "01164" "SETX_000008" "g.135203231C>T" "" "" "" "" "" "Germline" "" "rs1183768" "0" "" "" "g.132327844C>T" "" "benign" "" "0000064251" "1" "10" "9" "135203409" "135203409" "subst" "0.769512" "01164" "SETX_000047" "g.135203409A>C" "" "" "" "" "" "Germline" "" "rs1185193" "0" "" "" "g.132328022A>C" "" "benign" "" "0000064252" "1" "10" "9" "135203838" "135203838" "subst" "0.107824" "01164" "SETX_000010" "g.135203838G>A" "" "" "" "" "" "Germline" "" "rs3739921" "0" "" "" "g.132328451G>A" "" "benign" "" "0000064253" "1" "10" "9" "135206460" "135206460" "subst" "0.753832" "01164" "SETX_000040" "g.135206460A>G" "" "" "" "" "" "Germline" "" "rs9411449" "0" "" "" "g.132331073A>G" "" "benign" "" "0000064254" "1" "10" "9" "135202829" "135202829" "subst" "0.736559" "01164" "SETX_000048" "g.135202829T>C" "" "" "" "" "" "Germline" "" "rs543573" "0" "" "" "g.132327442T>C" "" "benign" "" "0000064255" "1" "10" "9" "135211611" "135211612" "del" "0" "01164" "SETX_000111" "g.135211611_135211612del" "" "" "" "" "" "Germline" "" "rs10573812" "0" "" "" "g.132336224_132336225del" "" "benign" "" "0000064256" "1" "10" "9" "135218047" "135218047" "subst" "0.0704135" "01164" "SETX_000112" "g.135218047A>G" "" "" "" "" "" "Germline" "" "rs11790312" "0" "" "" "g.132342660A>G" "" "benign" "" "0000064257" "1" "50" "9" "135173455" "135173455" "dup" "0" "01164" "SETX_000104" "g.135173455dup" "" "" "" "" "" "Germline" "" "rs33950103" "0" "" "" "g.132298068dup" "" "VUS" "" "0000064258" "1" "10" "9" "135221597" "135221597" "subst" "0" "01164" "SETX_000115" "g.135221597G>A" "" "" "" "" "" "Germline" "" "rs497650" "0" "" "" "g.132346210G>A" "" "benign" "" "0000064259" "1" "50" "9" "135187286" "135187286" "subst" "0.00655664" "01164" "SETX_000107" "g.135187286A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132311899A>G" "" "VUS" "" "0000064260" "1" "10" "9" "135230222" "135230222" "subst" "0" "01164" "SETX_000118" "g.135230222C>T" "" "" "" "" "c.-115+82G>A laut Alamut" "Germline" "" "rs3739917" "0" "" "" "g.132354835C>T" "" "benign" "" "0000064261" "1" "10" "9" "135221597" "135221597" "subst" "0" "01164" "SETX_000115" "g.135221597G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132346210G>A" "" "benign" "" "0000064262" "1" "10" "9" "135218343" "135218343" "subst" "0" "01164" "SETX_000114" "g.135218343A>G" "" "" "" "" "" "Germline" "" "rs514279" "0" "" "" "g.132342956A>G" "" "benign" "" "0000064263" "1" "10" "9" "135140020" "135140020" "subst" "0.00390625" "01164" "SETX_000090" "g.135140020A>G" "" "" "" "" "" "Germline" "" "rs151117904" "0" "" "" "g.132264633A>G" "" "benign" "" "0000064264" "1" "10" "9" "135150858" "135150858" "subst" "0" "01164" "SETX_000093" "g.135150858C>T" "" "" "" "" "" "Germline" "" "rs62576467" "0" "" "" "g.132275471C>T" "" "benign" "" "0000064265" "1" "50" "9" "135201855" "135201855" "subst" "2.0307E-5" "01164" "SETX_000108" "g.135201855A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132326468A>G" "" "VUS" "" "0000064266" "1" "90" "9" "135204010" "135204010" "subst" "0.0154923" "01164" "SETX_000022" "g.135204010T>C" "frequency up to 1%" "" "" "" "" "Germline" "" "rs61742937" "0" "" "" "g.132328623T>C" "" "pathogenic" "" "0000064267" "1" "10" "9" "135158690" "135158690" "subst" "0.0147767" "01164" "SETX_000099" "g.135158690C>T" "" "" "" "" "" "Germline" "" "rs34073320" "0" "" "" "g.132283303C>T" "" "benign" "" "0000064268" "1" "50" "9" "135163771" "135163771" "subst" "0.000432477" "01164" "SETX_000100" "g.135163771T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132288384T>C" "" "VUS" "" "0000064269" "1" "10" "9" "135158619" "135158619" "subst" "0.0820976" "01164" "SETX_000098" "g.135158619A>T" "" "" "" "" "" "Germline" "" "rs2296873" "0" "" "" "g.132283232A>T" "" "benign" "" "0000064270" "1" "10" "9" "135153673" "135153673" "subst" "0.164404" "01164" "SETX_000096" "g.135153673T>C" "" "" "" "" "" "Germline" "" "rs11243705" "0" "" "" "g.132278286T>C" "" "benign" "" "0000064271" "1" "10" "9" "135139901" "135139901" "subst" "0.38054" "01164" "SETX_000084" "g.135139901T>C" "" "" "" "" "" "Germline" "" "rs1056899" "0" "" "" "g.132264514T>C" "" "benign" "" "0000064272" "1" "10" "9" "135218328" "135218328" "subst" "0" "01164" "SETX_000113" "g.135218328G>T" "" "" "" "" "" "Germline" "" "rs13294324" "0" "" "" "g.132342941G>T" "" "benign" "" "0000064273" "1" "10" "9" "135150616" "135150616" "subst" "0.170173" "01164" "SETX_000091" "g.135150616T>C" "" "" "" "" "" "Germline" "" "rs2296865" "0" "" "" "g.132275229T>C" "" "benign" "" "0000116889" "0" "90" "9" "135156962" "135156962" "subst" "0" "01400" "SETX_000036" "g.135156962C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132281575C>G" "" "pathogenic" "" "0000116891" "0" "90" "9" "135187210" "135187213" "del" "0" "01400" "SETX_000035" "g.135187210_135187213del" "" "" "" "5308_5311delGAGA" "" "Germline" "" "" "0" "" "" "g.132311823_132311826del" "" "pathogenic" "" "0000116892" "0" "90" "9" "135140329" "135140329" "subst" "0" "01400" "SETX_000037" "g.135140329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132264942C>T" "" "pathogenic" "" "0000116893" "0" "90" "9" "135153463" "135153468" "del" "0" "01400" "SETX_000038" "g.135153463_135153468del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132278076_132278081del" "" "pathogenic" "" "0000116896" "3" "90" "9" "135203654" "135203657" "del" "0" "01400" "SETX_000083" "g.135203654_135203657del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132328267_132328270del" "" "pathogenic" "" "0000116902" "0" "90" "9" "135205556" "135215088" "del" "0" "01400" "SETX_000110" "g.135205556_135215088del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132330169_132339701del" "" "pathogenic" "" "0000116903" "0" "90" "9" "135171259" "135171259" "subst" "0" "01400" "SETX_000101" "g.135171259C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132295872C>T" "" "pathogenic" "" "0000117006" "0" "90" "9" "135172398" "135172398" "subst" "1.62631E-5" "01400" "SETX_000103" "g.135172398A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.132297011A>G" "" "pathogenic" "" "0000117012" "0" "90" "9" "135201710" "135210115" "" "0" "01400" "SETX_000119" "g.(135187244_135201710)_(135210115_135211682)dup" "" "" "" "" "tandem duplication of coding exons 5 to 8" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000117038" "3" "90" "9" "135204383" "135204383" "subst" "0" "00006" "SETX_000003" "g.135204383G>A" "" "{PMIDMoreira 2004:14770181}, {OMIM608465:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.132328996G>A" "" "pathogenic" "" "0000117039" "3" "90" "9" "135206759" "135206759" "subst" "0" "00006" "SETX_000002" "g.135206759C>A" "" "{PMID:Moreira 2004:14770181}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.132331372C>A" "" "pathogenic" "" "0000117040" "3" "90" "9" "135201916" "135201916" "dup" "0" "00006" "SETX_000004" "g.135201916dup" "" "{PMID:Moreira 2004:14770181}" "" "5070insT" "" "Germline" "" "" "0" "" "" "g.132326529dup" "" "pathogenic" "" "0000117041" "3" "90" "9" "135204362" "135204365" "del" "0" "00006" "SETX_000005" "g.135204362_135204365del" "" "{PMID:Moreira 2004:14770181}" "" "2622-2625delAGTT" "" "Germline" "" "" "0" "" "" "g.132328975_132328978del" "" "pathogenic" "" "0000117042" "1" "90" "9" "135206680" "135206680" "subst" "4.06197E-6" "00006" "SETX_000007" "g.135206680G>A" "" "{PMIDMoreira 2004:14770181}, {OMIM608465:0005}" "" "" "not in 300 control chromosomes" "Germline" "" "rs29001665" "0" "" "" "g.132331293G>A" "" "pathogenic" "" "0000117043" "1" "50" "9" "135203231" "135203231" "subst" "0.736471" "00006" "SETX_000008" "g.135203231C>T" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132327844C>T" "" "VUS" "" "0000117044" "3" "50" "9" "135203231" "135203231" "subst" "0.736471" "00006" "SETX_000008" "g.135203231C>T" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132327844C>T" "" "VUS" "" "0000117045" "3" "90" "9" "135202898" "135202898" "subst" "4.06392E-6" "00006" "SETX_000011" "g.135202898G>A" "" "{PMIDMoreira 2004:14770181}, {OMIM608465:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.132327511G>A" "" "pathogenic" "" "0000117046" "3" "90" "9" "135202898" "135202898" "subst" "4.06392E-6" "00006" "SETX_000011" "g.135202898G>A" "" "{PMIDMoreira 2004:14770181}, {OMIM608465:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.132327511G>A" "" "pathogenic" "" "0000117047" "3" "90" "9" "135201738" "135201738" "dup" "0" "00006" "SETX_000012" "g.135201738dup" "" "{PMID:Moreira 2004:14770181}" "" "5249insT" "" "Germline" "" "" "0" "" "" "g.132326351dup" "" "pathogenic" "" "0000117048" "3" "90" "9" "135202664" "135202664" "subst" "0" "00006" "SETX_000013" "g.135202664G>A" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132327277G>A" "" "pathogenic" "" "0000117049" "3" "90" "9" "135156870" "135156870" "subst" "4.06161E-6" "00006" "SETX_000014" "g.135156870G>A" "" "{PMIDMoreira 2004:14770181}, {OMIM608465:0003}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.132281483G>A" "" "pathogenic" "" "0000117050" "3" "90" "9" "135204653" "135204653" "subst" "4.07448E-6" "00006" "SETX_000015" "g.135204653G>A" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132329266G>A" "" "pathogenic" "" "0000117051" "3" "90" "9" "135205747" "135205747" "subst" "0" "00006" "SETX_000016" "g.135205747G>A" "" "{PMID:Moreira 2004:14770181}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.132330360G>A" "" "pathogenic" "" "0000117052" "1" "90" "9" "135206798" "135206798" "del" "0" "00006" "SETX_000018" "g.135206798del" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132331411del" "" "pathogenic" "" "0000117053" "0" "90" "9" "135205819" "135205819" "subst" "0" "00006" "SETX_000042" "g.135205819A>G" "" "{PMID:Chen 2004:15106121}, {OMIM608465:0006}" "" "" "" "Germline" "" "rs29001584" "0" "" "" "g.132330432A>G" "" "pathogenic" "" "0000117054" "0" "90" "9" "135224808" "135224808" "subst" "0" "00006" "SETX_000086" "g.135224808G>A" "" "{PMID:Chen 2004:15106121}, {OMIM608465:0007}" "" "" "" "Germline" "" "rs28941475" "0" "" "" "g.132349421G>A" "" "pathogenic" "" "0000117055" "0" "90" "9" "135158790" "135158790" "subst" "0" "00006" "SETX_000064" "g.135158790C>T" "" "{PMID:Chen 2004:15106121}, {OMIM608465:0008}" "" "" "" "Germline" "" "" "0" "" "" "g.132283403C>T" "" "pathogenic" "" "0000117056" "0" "90" "9" "135172296" "135172296" "subst" "1.62442E-5" "00006" "SETX_000057" "g.135172296A>C" "" "{PMID:Duquette 2005:15732101}, {OMIM608465:0009}" "" "" "" "Germline" "" "" "0" "" "" "g.132296909A>C" "" "pathogenic" "" "0000117057" "0" "90" "9" "135172294" "135172294" "subst" "0" "00006" "SETX_000058" "g.135172294G>A" "" "{PMID:Fogel 2006:17159128}, {OMIM608465:0012}" "" "" "" "Germline" "" "" "0" "" "" "g.132296907G>A" "" "pathogenic" "" "0000117058" "0" "90" "9" "135206510" "135206510" "subst" "0" "00006" "SETX_000039" "g.135206510C>A" "" "{PMID:Anheim 2008:18625865}, {OMIM608465:0013}" "" "" "" "Germline" "" "" "0" "" "" "g.132331123C>A" "" "pathogenic" "" "0000117059" "0" "90" "9" "135221695" "135221697" "del" "0" "00006" "SETX_000001" "g.135221695_135221697del" "" "{PMID:Airoldi 2010:19593598}, {OMIM608465:0014}" "" "340delCTT" "" "Germline" "" "" "0" "" "" "g.132346308_132346310del" "" "pathogenic" "" "0000117060" "3" "50" "9" "135203838" "135203838" "subst" "0.107824" "00006" "SETX_000010" "g.135203838G>A" "" "{PMID:Moreira 2004:14770181}" "" "H1049H" "" "Germline" "" "" "0" "" "" "g.132328451G>A" "" "VUS" "" "0000117061" "3" "50" "9" "135203231" "135203231" "subst" "0.736471" "00006" "SETX_000008" "g.135203231C>T" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132327844C>T" "" "VUS" "" "0000117062" "3" "50" "9" "135203231" "135203231" "subst" "0.736471" "00006" "SETX_000008" "g.135203231C>T" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132327844C>T" "" "VUS" "" "0000117063" "3" "50" "9" "135203838" "135203838" "subst" "0.107824" "00006" "SETX_000010" "g.135203838G>A" "" "{PMID:Moreira 2004:14770181}" "" "H1049H" "" "Germline" "" "" "0" "" "" "g.132328451G>A" "" "VUS" "" "0000117064" "3" "50" "9" "135203838" "135203838" "subst" "0.107824" "00006" "SETX_000010" "g.135203838G>A" "" "{PMID:Moreira 2004:14770181}" "" "H1049H" "" "Germline" "" "" "0" "" "" "g.132328451G>A" "" "VUS" "" "0000117065" "0" "10" "9" "135206460" "135206460" "subst" "0.753832" "00430" "SETX_000040" "g.135206460A>G" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132331073A>G" "" "benign" "" "0000117066" "0" "10" "9" "135205006" "135205006" "subst" "0.115986" "00430" "SETX_000045" "g.135205006G>C" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132329619G>C" "" "benign" "" "0000117067" "0" "10" "9" "135203530" "135203530" "subst" "0.0645664" "00430" "SETX_000046" "g.135203530A>C" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132328143A>C" "" "benign" "" "0000117068" "0" "10" "9" "135203409" "135203409" "subst" "0.769512" "00430" "SETX_000047" "g.135203409A>C" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132328022A>C" "" "benign" "" "0000117069" "0" "10" "9" "135203231" "135203231" "subst" "0.736471" "00430" "SETX_000008" "g.135203231C>T" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132327844C>T" "" "benign" "" "0000117070" "0" "10" "9" "135202829" "135202829" "subst" "0.736559" "00430" "SETX_000048" "g.135202829T>C" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132327442T>C" "" "benign" "" "0000117071" "0" "10" "9" "135187128" "135187128" "subst" "0.245991" "00430" "SETX_000051" "g.135187128G>A" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132311741G>A" "" "benign" "" "0000117072" "0" "10" "9" "135173685" "135173685" "subst" "0.263904" "00430" "SETX_000053" "g.135173685T>C" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132298298T>C" "" "benign" "" "0000117073" "0" "10" "9" "135173455" "135173455" "dup" "0" "00430" "SETX_000054" "g.135173455dup" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132298068dup" "" "benign" "" "0000117074" "0" "10" "9" "135172412" "135172412" "subst" "0.263443" "00430" "SETX_000055" "g.135172412A>G" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132297025A>G" "" "benign" "" "0000117075" "0" "90" "9" "135152540" "135152543" "del" "0" "00430" "SETX_000070" "g.135152540_135152543del" "" "from website {DBsub-Emory}" "" "6848_6851delCAGA" "" "Germline" "" "" "0" "" "" "g.132277153_132277156del" "" "pathogenic" "" "0000117076" "0" "10" "9" "135139901" "135139901" "subst" "0.38054" "00430" "SETX_000084" "g.135139901T>C" "" "from website {DBsub-Emory}" "" "" "" "Germline" "" "" "0" "" "" "g.132264514T>C" "" "benign" "" "0000117077" "0" "90" "9" "135205832" "135205832" "subst" "0" "00006" "SETX_000041" "g.135205832C>A" "" "{PMID:Nakamura 2009:19893583}" "" "" "" "Germline" "" "" "0" "" "" "g.132330445C>A" "" "pathogenic" "" "0000117078" "0" "90" "9" "135205681" "135205681" "subst" "0" "00006" "SETX_000043" "g.135205681T>C" "" "{PMID:Fogel 2006:17159128}" "" "" "" "Germline" "" "" "0" "" "" "g.132330294T>C" "" "pathogenic" "" "0000117079" "0" "90" "9" "135205316" "135205316" "subst" "0" "00006" "SETX_000044" "g.135205316G>A" "" "{PMID:Airoldi 2010:19593598}" "" "" "" "Germline" "" "" "0" "" "" "g.132329929G>A" "" "pathogenic" "" "0000117080" "21" "90" "9" "135205178" "135205178" "subst" "0.000989172" "00006" "SETX_000019" "g.135205178T>C" "" "{PMID:Bassuk 2007:17096168}, {OMIM608465:0010}" "" "" "postulated 2 variants act synergistically, leading to a dominant-negative variant protein with partial function and incomplete phenotype" "Germline" "" "rs116205032" "0" "" "" "g.132329791T>C" "" "pathogenic" "" "0000117081" "0" "90" "9" "135221843" "135221843" "subst" "0" "00006" "SETX_000020" "g.135221843C>T" "" "{PMID:Duquette 2005:15732101}" "" "" "" "Germline" "" "" "0" "" "" "g.132346456C>T" "" "pathogenic" "" "0000117082" "0" "90" "9" "135204607" "135204607" "del" "0" "00006" "SETX_000023" "g.135204607del" "" "{PMID:Arning 2008:18663494}" "" "" "" "Germline" "" "" "0" "" "" "g.132329220del" "" "pathogenic" "" "0000117083" "0" "90" "9" "135204597" "135204600" "del" "0" "00006" "SETX_000024" "g.135204597_135204600del" "" "{PMID:Anheim 2009:19696032}" "" "2387_2390delAGAA" "" "Germline" "" "" "0" "" "" "g.132329210_132329213del" "" "pathogenic" "" "0000117084" "0" "90" "9" "135204326" "135204326" "subst" "0" "00006" "SETX_000025" "g.135204326G>A" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132328939G>A" "" "pathogenic" "" "0000117085" "0" "90" "9" "135204230" "135204231" "del" "0" "00006" "SETX_000026" "g.135204230_135204231del" "" "{PMID:Gazulla 2009:19618424}" "" "2755_2756delGT" "" "Germline" "" "" "0" "" "" "g.132328843_132328844del" "" "pathogenic" "" "0000117086" "0" "90" "9" "135204150" "135204150" "del" "0" "00006" "SETX_000027" "g.135204150del" "" "{PMID:Schols 2008:18350359}" "" "" "" "Germline" "" "" "0" "" "" "g.132328763del" "" "pathogenic" "" "0000117087" "0" "90" "9" "135204010" "135204010" "subst" "0.0154923" "00006" "SETX_000022" "g.135204010T>C" "" "{PMID:Fogel 2006:17159128}" "" "" "" "Germline" "" "rs61742937" "0" "" "" "g.132328623T>C" "" "pathogenic" "" "0000117088" "0" "90" "9" "135203912" "135203915" "del" "0" "00006" "SETX_000028" "g.135203912_135203915del" "" "{PMID:Anheim 2009:19696032}" "" "3070_3073delGATG" "" "Germline" "" "" "0" "" "" "g.132328525_132328528del" "" "pathogenic" "" "0000117089" "0" "90" "9" "135203632" "135203632" "subst" "8.14133E-6" "00006" "SETX_000029" "g.135203632G>A" "" "{PMID:Zhao 2009:19058054}" "" "" "" "Germline" "" "" "0" "" "" "g.132328245G>A" "" "pathogenic" "" "0000117090" "0" "90" "9" "135203381" "135203381" "del" "0" "00006" "SETX_000030" "g.135203381del" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132327994del" "" "pathogenic" "" "0000117091" "3" "70" "9" "135203105" "135203105" "subst" "8.12328E-6" "00006" "SETX_000120" "g.135203105G>A" "" "{PMID:Asaka 2006:16717225}, {OMIM608465:0011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132327718G>A" "" "likely pathogenic" "" "0000117092" "0" "90" "9" "135202949" "135202949" "subst" "0" "00006" "SETX_000031" "g.135202949G>A" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132327562G>A" "" "pathogenic" "" "0000117093" "0" "90" "9" "135202890" "135202891" "del" "0" "00006" "SETX_000032" "g.135202890_135202891del" "" "{PMID:Bernard 2008:19569000}" "" "4095_4096delTT" "" "Germline" "" "" "0" "" "" "g.132327503_132327504del" "" "pathogenic" "" "0000117094" "0" "90" "9" "135202351" "135202354" "del" "0" "00006" "SETX_000033" "g.135202351_135202354del" "" "{PMID:Bernard 2009:19744353}" "" "4633_4636delAGTG" "" "Germline" "" "" "0" "" "" "g.132326964_132326967del" "" "pathogenic" "" "0000117095" "0" "90" "9" "135202325" "135202325" "subst" "0.00555049" "00006" "SETX_000034" "g.135202325A>C" "" "{PMID:Hirano 2011:21190393}" "" "" "" "Germline" "" "rs112089123" "0" "" "" "g.132326938A>C" "" "pathogenic" "" "0000117096" "0" "90" "9" "135202169" "135202169" "subst" "0" "00006" "SETX_000049" "g.135202169G>A" "" "{PMID:Bernard 2009:19744353}" "" "" "" "Germline" "" "" "0" "" "" "g.132326782G>A" "" "pathogenic" "" "0000117097" "0" "90" "9" "135187210" "135187213" "del" "0" "00006" "SETX_000035" "g.135187210_135187213del" "" "{PMID:Nicolaou 2008:18405395}" "" "5308_5311delGAGA" "" "Germline" "" "" "0" "" "" "g.132311823_132311826del" "" "pathogenic" "" "0000117098" "0" "90" "9" "135187186" "135187186" "subst" "1.22014E-5" "00006" "SETX_000050" "g.135187186G>A" "" "{PMID:Haack 2009:19377860}" "" "" "" "Germline" "" "" "0" "" "" "g.132311799G>A" "" "pathogenic" "" "0000117099" "0" "90" "9" "135176152" "135176152" "subst" "0" "00006" "SETX_000052" "g.135176152G>A" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132300765G>A" "" "pathogenic" "" "0000117100" "0" "90" "9" "135172390" "135172390" "subst" "0" "00006" "SETX_000056" "g.135172390C>G" "" "{PMID:Fogel 2006:17159128}" "" "" "" "Germline" "" "" "0" "" "" "g.132297003C>G" "" "pathogenic" "" "0000117101" "0" "90" "9" "135171348" "135171348" "subst" "0" "00006" "SETX_000059" "g.135171348C>T" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132295961C>T" "" "pathogenic" "" "0000117102" "0" "90" "9" "135171336" "135171336" "subst" "1.21822E-5" "00006" "SETX_000060" "g.135171336T>C" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132295949T>C" "" "pathogenic" "" "0000117103" "0" "90" "9" "135171280" "135171280" "subst" "2.03639E-5" "00006" "SETX_000061" "g.135171280T>C" "" "{PMID:Hirano 2011:21190393}" "" "" "" "Germline" "" "" "0" "" "" "g.132295893T>C" "" "pathogenic" "" "0000117104" "0" "90" "9" "135163935" "135163935" "dup" "0" "00006" "SETX_000062" "g.135163935dup" "" "{PMID:Fogel 2009:19727998}" "" "" "" "Germline" "" "" "0" "" "" "g.132288548dup" "" "pathogenic" "" "0000117105" "0" "90" "9" "135161865" "135161866" "del" "0" "00006" "SETX_000063" "g.135161865_135161866del" "" "{PMID:Anheim 2009:19696032}" "" "6340_6341delGA" "" "Germline" "" "" "0" "" "" "g.132286478_132286479del" "" "pathogenic" "" "0000117106" "0" "90" "9" "135158733" "135158733" "subst" "0" "00006" "SETX_000065" "g.135158733A>C" "" "{PMID:Bernard 2008:19569000}" "" "" "" "Germline" "" "" "0" "" "" "g.132283346A>C" "" "pathogenic" "" "0000117107" "0" "90" "9" "135156918" "135156918" "subst" "4.06114E-6" "00006" "SETX_000066" "g.135156918T>C" "" "{PMID:Fogel 2006:17159128}" "" "" "" "Germline" "" "" "0" "" "" "g.132281531T>C" "" "pathogenic" "" "0000117108" "0" "90" "9" "135156888" "135156888" "subst" "0" "00006" "SETX_000067" "g.135156888T>A" "" "{PMID:Bernard 2008:19569000}" "" "" "" "Germline" "" "" "0" "" "" "g.132281501T>A" "" "pathogenic" "" "0000117109" "0" "90" "9" "135156883" "135156883" "subst" "0" "00006" "SETX_000068" "g.135156883T>A" "" "{PMID:Anheim 2008:18625865}" "" "" "" "Germline" "" "" "0" "" "" "g.132281496T>A" "" "pathogenic" "" "0000117110" "0" "90" "9" "135153507" "135153507" "subst" "8.12414E-6" "00006" "SETX_000069" "g.135153507T>C" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132278120T>C" "" "pathogenic" "" "0000117111" "0" "90" "9" "135153463" "135153468" "del" "0" "00006" "SETX_000038" "g.135153463_135153468del" "" "{PMID:Anheim 2009:19696032}" "" "6834_6839delAACAAA" "" "Germline" "" "" "0" "" "" "g.132278076_132278081del" "" "pathogenic" "" "0000117112" "0" "90" "9" "135152523" "135152523" "subst" "0" "00006" "SETX_000071" "g.135152523G>A" "" "{PMID:Bohlega 2011:21324166}" "" "" "" "Germline" "" "" "0" "" "" "g.132277136G>A" "" "pathogenic" "" "0000117113" "0" "90" "9" "135150731" "135150743" "delins" "0" "00006" "SETX_000072" "g.135150731_135150743delinsA" "" "{PMID:Anheim 2009:19696032}" "" "7000_7012delAGAAAGGATGTTAinsT" "" "Germline" "" "" "0" "" "" "g.132275344_132275356delinsA" "" "pathogenic" "" "0000117114" "0" "90" "9" "135150654" "135150654" "subst" "0" "00006" "SETX_000073" "g.135150654G>C" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132275267G>C" "" "pathogenic" "" "0000117115" "0" "90" "9" "135147193" "135147193" "subst" "4.06243E-6" "00006" "SETX_000074" "g.135147193G>C" "" "{PMID:Chen 2006:16644229}" "" "" "" "Germline" "" "" "0" "" "" "g.132271806G>C" "" "pathogenic" "" "0000117116" "0" "90" "9" "135147179" "135147179" "subst" "0" "00006" "SETX_000075" "g.135147179T>G" "" "{PMID:Bernard 2008:19569000}" "" "" "" "Germline" "" "" "0" "" "" "g.132271792T>G" "" "pathogenic" "" "0000117117" "0" "90" "9" "135147158" "135147158" "subst" "0" "00006" "SETX_000076" "g.135147158G>C" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132271771G>C" "" "pathogenic" "" "0000117118" "0" "90" "9" "135147157" "135147157" "subst" "1.2183E-5" "00006" "SETX_000077" "g.135147157C>T" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132271770C>T" "" "pathogenic" "" "0000117119" "0" "90" "9" "135147152" "135147152" "subst" "0" "00006" "SETX_000078" "g.135147152T>C" "" "{PMID:Bernard 2008:19569000}" "" "" "" "Germline" "" "" "0" "" "" "g.132271765T>C" "" "pathogenic" "" "0000117120" "0" "90" "9" "135147139" "135147139" "subst" "4.06068E-6" "00006" "SETX_000079" "g.135147139A>G" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132271752A>G" "" "pathogenic" "" "0000117121" "0" "90" "9" "135145049" "135145049" "subst" "0" "00006" "SETX_000080" "g.135145049G>A" "" "{PMID:Anheim 2009:19696032}" "" "" "" "Germline" "" "" "0" "" "" "g.132269662G>A" "" "pathogenic" "" "0000117122" "0" "90" "9" "135145048" "135145048" "subst" "0" "00006" "SETX_000081" "g.135145048C>T" "" "{PMID:Bernard 2008:19569000}" "" "" "" "Germline" "" "" "0" "" "" "g.132269661C>T" "" "pathogenic" "" "0000117123" "0" "90" "9" "135140330" "135140330" "subst" "1.22248E-5" "00006" "SETX_000082" "g.135140330G>A" "" "{PMID:Bernard 2008:19569000}" "" "" "" "Germline" "" "" "0" "" "" "g.132264943G>A" "" "pathogenic" "" "0000117124" "0" "90" "9" "135140329" "135140329" "subst" "0" "00006" "SETX_000037" "g.135140329C>T" "" "{PMID:Anheim 2008:18625865}" "" "" "" "Germline" "" "" "0" "" "" "g.132264942C>T" "" "pathogenic" "" "0000117125" "0" "90" "9" "135140020" "135140020" "subst" "0.00390625" "00006" "SETX_000090" "g.135140020A>G" "" "{PMID:Hirano 2011:21190393}" "" "" "" "Germline" "" "rs151117904" "0" "" "" "g.132264633A>G" "" "pathogenic" "" "0000117126" "0" "90" "9" "135206742" "135206742" "subst" "0" "00006" "SETX_000087" "g.135206742G>A" "" "{PMID:Bernard 2008:19569000}" "" "" "" "Germline" "" "" "0" "" "" "g.132331355G>A" "" "pathogenic" "" "0000117127" "2" "90" "9" "135204018" "135204022" "del" "0" "00006" "SETX_000006" "g.135204018_135204022del" "" "{PMIDMoreira 2004:14770181}, {OMIM608465:0004}" "" "2966-2970delGGAAA" "" "Germline" "" "" "0" "" "" "g.132328631_132328635del" "" "pathogenic" "" "0000117128" "2" "90" "9" "135139625" "135224816" "del" "0" "00006" "SETX_000000" "g.(?_135139625)_(135224816_?)del" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000117129" "1" "50" "9" "135203231" "135203231" "subst" "0.736471" "00006" "SETX_000008" "g.135203231C>T" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132327844C>T" "" "VUS" "" "0000117130" "1" "90" "9" "135201721" "135201721" "del" "0" "00006" "SETX_000009" "g.135201721del" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132326334del" "" "pathogenic" "" "0000117131" "3" "90" "9" "135202898" "135202898" "subst" "4.06392E-6" "00006" "SETX_000011" "g.135202898G>A" "" "{PMIDMoreira 2004:14770181}, {OMIM608465:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.132327511G>A" "" "pathogenic" "" "0000117132" "3" "50" "9" "135203231" "135203231" "subst" "0.736471" "00006" "SETX_000008" "g.135203231C>T" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132327844C>T" "" "VUS" "" "0000117133" "3" "50" "9" "135203231" "135203231" "subst" "0.736471" "00006" "SETX_000008" "g.135203231C>T" "" "{PMID:Moreira 2004:14770181}" "" "" "" "Germline" "" "" "0" "" "" "g.132327844C>T" "" "VUS" "" "0000117134" "2" "90" "9" "135201718" "135201718" "subst" "8.20796E-6" "00006" "SETX_000017" "g.135201718A>G" "" "{PMID:Moreira 2004:14770181}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.132326331A>G" "" "pathogenic" "" "0000117135" "21" "90" "9" "135205028" "135205028" "subst" "0.00144694" "00006" "SETX_000021" "g.135205028G>T" "" "{PMID:Bassuk 2007:17096168}, {OMIM608465:0010}" "" "" "postulated 2 variants act synergistically, leading to a dominant-negative variant protein with partial function and incomplete phenotype" "Germline" "" "rs116333061" "0" "" "" "g.132329641G>T" "" "pathogenic" "" "0000117136" "3" "50" "9" "135210011" "135210011" "subst" "0" "00006" "SETX_000085" "g.135210011C>D" "" "{PMID:Asaka 2006:16717225}, {OMIM608465:0011}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.132334624C>D" "" "VUS" "" "0000236391" "0" "50" "9" "135171295" "135171295" "subst" "0" "01807" "SETX_000121" "g.135171295A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.132295908A>T" "" "VUS" "" "0000236392" "0" "90" "9" "135176141" "135176141" "del" "0" "01807" "SETX_000122" "g.135176141del" "" "" "" "5424delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.132300754del" "" "pathogenic" "" "0000246772" "0" "10" "9" "135172412" "135172412" "subst" "0.263443" "02330" "SETX_000055" "g.135172412A>G" "" "" "" "SETX(NM_015046.5):c.5811T>C (p.D1937=), SETX(NM_015046.7):c.5811T>C (p.D1937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132297025A>G" "" "benign" "" "0000246773" "0" "10" "9" "135206460" "135206460" "subst" "0.753832" "02330" "SETX_000040" "g.135206460A>G" "" "" "" "SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132331073A>G" "" "benign" "" "0000246774" "0" "10" "9" "135203409" "135203409" "subst" "0.769512" "02330" "SETX_000047" "g.135203409A>C" "" "" "" "SETX(NM_015046.5):c.3576T>G (p.D1192E), SETX(NM_015046.7):c.3576T>G (p.D1192E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328022A>C" "" "benign" "" "0000246775" "0" "10" "9" "135203530" "135203530" "subst" "0.0645664" "02330" "SETX_000046" "g.135203530A>C" "" "" "" "SETX(NM_015046.5):c.3455T>G (p.F1152C), SETX(NM_015046.7):c.3455T>G (p.F1152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328143A>C" "" "benign" "" "0000246776" "0" "10" "9" "135152439" "135152439" "subst" "0.0883171" "02330" "SETX_000094" "g.135152439A>G" "" "" "" "SETX(NM_015046.5):c.6935+8T>C, SETX(NM_015046.7):c.6935+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132277052A>G" "" "benign" "" "0000246784" "0" "30" "9" "135140020" "135140020" "subst" "0.00390625" "02330" "SETX_000090" "g.135140020A>G" "" "" "" "SETX(NM_015046.5):c.7640T>C (p.I2547T), SETX(NM_015046.7):c.7640T>C (p.I2547T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264633A>G" "" "likely benign" "" "0000246785" "0" "10" "9" "135202230" "135202230" "subst" "0.00610638" "02330" "SETX_000143" "g.135202230A>C" "" "" "" "SETX(NM_015046.5):c.4755T>G (p.P1585=), SETX(NM_015046.7):c.4755T>G (p.P1585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326843A>C" "" "benign" "" "0000246844" "0" "30" "9" "135202889" "135202889" "subst" "0.000243817" "02330" "SETX_000148" "g.135202889A>G" "" "" "" "SETX(NM_015046.7):c.4096T>C (p.S1366P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327502A>G" "" "likely benign" "" "0000246858" "0" "90" "9" "135205819" "135205819" "subst" "0" "02330" "SETX_000042" "g.135205819A>G" "" "" "" "SETX(NM_015046.7):c.1166T>C (p.L389S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132330432A>G" "" "pathogenic" "" "0000246861" "0" "50" "9" "135206682" "135206682" "subst" "1.21853E-5" "02330" "SETX_000174" "g.135206682A>G" "" "" "" "SETX(NM_015046.7):c.992T>C (p.I331T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132331295A>G" "" "VUS" "" "0000247825" "0" "10" "9" "135172412" "135172412" "subst" "0.263443" "02325" "SETX_000055" "g.135172412A>G" "" "" "" "SETX(NM_015046.5):c.5811T>C (p.D1937=), SETX(NM_015046.7):c.5811T>C (p.D1937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132297025A>G" "" "benign" "" "0000247826" "0" "10" "9" "135206460" "135206460" "subst" "0.753832" "02325" "SETX_000040" "g.135206460A>G" "" "" "" "SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132331073A>G" "" "benign" "" "0000247827" "0" "10" "9" "135203409" "135203409" "subst" "0.769512" "02325" "SETX_000047" "g.135203409A>C" "" "" "" "SETX(NM_015046.5):c.3576T>G (p.D1192E), SETX(NM_015046.7):c.3576T>G (p.D1192E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328022A>C" "" "benign" "" "0000249852" "0" "10" "9" "135172412" "135172412" "subst" "0.263443" "02329" "SETX_000055" "g.135172412A>G" "" "" "" "SETX(NM_015046.5):c.5811T>C (p.D1937=), SETX(NM_015046.7):c.5811T>C (p.D1937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132297025A>G" "" "benign" "" "0000249853" "0" "10" "9" "135206460" "135206460" "subst" "0.753832" "02329" "SETX_000040" "g.135206460A>G" "" "" "" "SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132331073A>G" "" "benign" "" "0000249854" "0" "10" "9" "135203409" "135203409" "subst" "0.769512" "02329" "SETX_000047" "g.135203409A>C" "" "" "" "SETX(NM_015046.5):c.3576T>G (p.D1192E), SETX(NM_015046.7):c.3576T>G (p.D1192E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328022A>C" "" "benign" "" "0000249859" "0" "10" "9" "135203530" "135203530" "subst" "0.0645664" "02329" "SETX_000046" "g.135203530A>C" "" "" "" "SETX(NM_015046.5):c.3455T>G (p.F1152C), SETX(NM_015046.7):c.3455T>G (p.F1152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328143A>C" "" "benign" "" "0000249860" "0" "10" "9" "135152439" "135152439" "subst" "0.0883171" "02329" "SETX_000094" "g.135152439A>G" "" "" "" "SETX(NM_015046.5):c.6935+8T>C, SETX(NM_015046.7):c.6935+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132277052A>G" "" "benign" "" "0000249947" "0" "10" "9" "135140020" "135140020" "subst" "0.00390625" "02329" "SETX_000090" "g.135140020A>G" "" "" "" "SETX(NM_015046.5):c.7640T>C (p.I2547T), SETX(NM_015046.7):c.7640T>C (p.I2547T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264633A>G" "" "benign" "" "0000249966" "0" "10" "9" "135202230" "135202230" "subst" "0.00610638" "02329" "SETX_000143" "g.135202230A>C" "" "" "" "SETX(NM_015046.5):c.4755T>G (p.P1585=), SETX(NM_015046.7):c.4755T>G (p.P1585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326843A>C" "" "benign" "" "0000250295" "0" "30" "9" "135203634" "135203634" "subst" "0" "02329" "SETX_000156" "g.135203634A>G" "" "" "" "SETX(NM_015046.7):c.3351T>C (p.T1117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328247A>G" "" "likely benign" "" "0000250601" "0" "10" "9" "135172412" "135172412" "subst" "0.263443" "02326" "SETX_000055" "g.135172412A>G" "" "" "" "SETX(NM_015046.5):c.5811T>C (p.D1937=), SETX(NM_015046.7):c.5811T>C (p.D1937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132297025A>G" "" "benign" "" "0000250602" "0" "10" "9" "135206460" "135206460" "subst" "0.753832" "02326" "SETX_000040" "g.135206460A>G" "" "" "" "SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132331073A>G" "" "benign" "" "0000250603" "0" "10" "9" "135203409" "135203409" "subst" "0.769512" "02326" "SETX_000047" "g.135203409A>C" "" "" "" "SETX(NM_015046.5):c.3576T>G (p.D1192E), SETX(NM_015046.7):c.3576T>G (p.D1192E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328022A>C" "" "benign" "" "0000250608" "0" "10" "9" "135203530" "135203530" "subst" "0.0645664" "02326" "SETX_000046" "g.135203530A>C" "" "" "" "SETX(NM_015046.5):c.3455T>G (p.F1152C), SETX(NM_015046.7):c.3455T>G (p.F1152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328143A>C" "" "benign" "" "0000250609" "0" "10" "9" "135152439" "135152439" "subst" "0.0883171" "02326" "SETX_000094" "g.135152439A>G" "" "" "" "SETX(NM_015046.5):c.6935+8T>C, SETX(NM_015046.7):c.6935+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132277052A>G" "" "benign" "" "0000250762" "0" "30" "9" "135140020" "135140020" "subst" "0.00390625" "02326" "SETX_000090" "g.135140020A>G" "" "" "" "SETX(NM_015046.5):c.7640T>C (p.I2547T), SETX(NM_015046.7):c.7640T>C (p.I2547T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264633A>G" "" "likely benign" "" "0000250794" "0" "30" "9" "135202325" "135202325" "subst" "0.00555049" "02326" "SETX_000034" "g.135202325A>C" "" "" "" "SETX(NM_001351527.2):c.4660T>G (p.C1554G), SETX(NM_015046.5):c.4660T>G (p.C1554G, p.(Cys1554Gly)), SETX(NM_015046.7):c.4660T>G (p.C1554G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326938A>C" "" "likely benign" "" "0000251439" "0" "10" "9" "135161779" "135161779" "del" "0" "02326" "SETX_000130" "g.135161779del" "" "" "" "SETX(NM_015046.5):c.6396+43delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132286392del" "" "benign" "" "0000251440" "0" "10" "9" "135224524" "135224524" "del" "0" "02326" "SETX_000175" "g.135224524del" "" "" "" "SETX(NM_015046.5):c.177+125delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132349137del" "" "benign" "" "0000252953" "0" "10" "9" "135172412" "135172412" "subst" "0.263443" "01943" "SETX_000055" "g.135172412A>G" "" "" "" "SETX(NM_015046.5):c.5811T>C (p.D1937=), SETX(NM_015046.7):c.5811T>C (p.D1937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132297025A>G" "" "benign" "" "0000252954" "0" "10" "9" "135206460" "135206460" "subst" "0.753832" "01943" "SETX_000040" "g.135206460A>G" "" "" "" "SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132331073A>G" "" "benign" "" "0000252955" "0" "10" "9" "135203409" "135203409" "subst" "0.769512" "01943" "SETX_000047" "g.135203409A>C" "" "" "" "SETX(NM_015046.5):c.3576T>G (p.D1192E), SETX(NM_015046.7):c.3576T>G (p.D1192E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328022A>C" "" "benign" "" "0000252960" "0" "10" "9" "135203530" "135203530" "subst" "0.0645664" "01943" "SETX_000046" "g.135203530A>C" "" "" "" "SETX(NM_015046.5):c.3455T>G (p.F1152C), SETX(NM_015046.7):c.3455T>G (p.F1152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328143A>C" "" "benign" "" "0000252961" "0" "10" "9" "135152439" "135152439" "subst" "0.0883171" "01943" "SETX_000094" "g.135152439A>G" "" "" "" "SETX(NM_015046.5):c.6935+8T>C, SETX(NM_015046.7):c.6935+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132277052A>G" "" "benign" "" "0000253549" "0" "10" "9" "135140289" "135140289" "subst" "0.000836772" "01943" "SETX_000188" "g.135140289A>G" "" "" "" "SETX(NM_015046.5):c.7371T>C (p.H2457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264902A>G" "" "benign" "" "0000253981" "0" "30" "9" "135140020" "135140020" "subst" "0.00390625" "01943" "SETX_000090" "g.135140020A>G" "" "" "" "SETX(NM_015046.5):c.7640T>C (p.I2547T), SETX(NM_015046.7):c.7640T>C (p.I2547T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264633A>G" "" "likely benign" "" "0000254013" "0" "30" "9" "135202325" "135202325" "subst" "0.00555049" "01943" "SETX_000034" "g.135202325A>C" "" "" "" "SETX(NM_001351527.2):c.4660T>G (p.C1554G), SETX(NM_015046.5):c.4660T>G (p.C1554G, p.(Cys1554Gly)), SETX(NM_015046.7):c.4660T>G (p.C1554G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326938A>C" "" "likely benign" "" "0000254057" "0" "30" "9" "135202230" "135202230" "subst" "0.00610638" "01943" "SETX_000143" "g.135202230A>C" "" "" "" "SETX(NM_015046.5):c.4755T>G (p.P1585=), SETX(NM_015046.7):c.4755T>G (p.P1585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326843A>C" "" "likely benign" "" "0000255857" "0" "50" "9" "135205511" "135205511" "subst" "0" "01943" "SETX_000172" "g.135205511A>C" "" "" "" "SETX(NM_015046.5):c.1474T>G (p.C492G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132330124A>C" "" "VUS" "" "0000295757" "0" "30" "9" "135229028" "135229028" "dup" "0" "02330" "SETX_000213" "g.135229028dup" "" "" "" "SETX(NM_015046.7):c.-8+18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132353641dup" "" "likely benign" "" "0000295759" "0" "30" "9" "135206456" "135206456" "subst" "0" "02330" "SETX_000201" "g.135206456G>A" "" "" "" "SETX(NM_015046.7):c.1081C>T (p.P361S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132331069G>A" "" "likely benign" "" "0000295760" "0" "50" "9" "135205066" "135205066" "subst" "2.03789E-5" "02330" "SETX_000170" "g.135205066G>C" "" "" "" "SETX(NM_015046.7):c.1919C>G (p.A640G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329679G>C" "" "VUS" "" "0000295761" "0" "10" "9" "135205006" "135205006" "subst" "0.115986" "02330" "SETX_000045" "g.135205006G>C" "" "" "" "SETX(NM_015046.5):c.1979C>G (p.A660G), SETX(NM_015046.7):c.1979C>G (p.A660G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329619G>C" "" "benign" "" "0000295762" "0" "50" "9" "135204420" "135204420" "subst" "0" "02330" "SETX_000162" "g.135204420T>G" "" "" "" "SETX(NM_015046.7):c.2565A>C (p.E855D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329033T>G" "" "VUS" "" "0000295763" "0" "10" "9" "135204010" "135204010" "subst" "0.0154923" "02330" "SETX_000022" "g.135204010T>C" "" "" "" "SETX(NM_015046.5):c.2975A>G (p.K992R), SETX(NM_015046.7):c.2975A>G (p.K992R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328623T>C" "" "benign" "" "0000295764" "0" "10" "9" "135203838" "135203838" "subst" "0.107824" "02330" "SETX_000010" "g.135203838G>A" "" "" "" "SETX(NM_015046.5):c.3147C>T (p.H1049=), SETX(NM_015046.7):c.3147C>T (p.H1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328451G>A" "" "benign" "" "0000295765" "0" "30" "9" "135203664" "135203664" "subst" "4.0699E-6" "02330" "SETX_000158" "g.135203664C>T" "" "" "" "SETX(NM_001351527.1):c.3321G>A (p.E1107=), SETX(NM_015046.7):c.3321G>A (p.E1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328277C>T" "" "likely benign" "" "0000295766" "0" "10" "9" "135203231" "135203231" "subst" "0.736471" "02330" "SETX_000008" "g.135203231C>T" "" "" "" "SETX(NM_015046.5):c.3754G>A (p.G1252R), SETX(NM_015046.7):c.3754G>A (p.G1252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327844C>T" "" "benign" "" "0000295767" "0" "10" "9" "135202829" "135202829" "subst" "0.736559" "02330" "SETX_000048" "g.135202829T>C" "" "" "" "SETX(NM_015046.5):c.4156A>G (p.I1386V), SETX(NM_015046.7):c.4156A>G (p.I1386V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327442T>C" "" "benign" "" "0000295768" "0" "10" "9" "135187128" "135187128" "subst" "0.245991" "02330" "SETX_000051" "g.135187128G>A" "" "" "" "SETX(NM_015046.5):c.5374+16C>T, SETX(NM_015046.7):c.5374+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132311741G>A" "" "benign" "" "0000295769" "0" "50" "9" "135176070" "135176070" "subst" "0" "02330" "SETX_000137" "g.135176070T>A" "" "" "" "SETX(NM_015046.7):c.5495A>T (p.D1832V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132300683T>A" "" "VUS" "" "0000295770" "0" "10" "9" "135173685" "135173685" "subst" "0.263904" "02330" "SETX_000053" "g.135173685T>C" "" "" "" "SETX(NM_015046.5):c.5563A>G (p.T1855A), SETX(NM_015046.7):c.5563A>G (p.T1855A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132298298T>C" "" "benign" "" "0000295771" "0" "10" "9" "135173455" "135173455" "dup" "0" "02330" "SETX_000104" "g.135173455dup" "" "" "" "SETX(NM_015046.5):c.5781+12dupT, SETX(NM_015046.7):c.5781+12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132298068dup" "" "benign" "" "0000295773" "0" "10" "9" "135224757" "135224757" "subst" "0.00928265" "02330" "SETX_000210" "g.135224757C>T" "" "" "" "SETX(NM_015046.5):c.59G>A (p.R20H), SETX(NM_015046.7):c.59G>A (p.R20H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132349370C>T" "" "benign" "" "0000295774" "0" "10" "9" "135171245" "135171245" "subst" "0.0150902" "02330" "SETX_000132" "g.135171245C>T" "" "" "" "SETX(NM_015046.5):c.6106+14G>A, SETX(NM_015046.7):c.6106+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132295858C>T" "" "benign" "" "0000295775" "0" "90" "9" "135158790" "135158790" "subst" "0" "02330" "SETX_000064" "g.135158790C>T" "" "" "" "SETX(NM_015046.7):c.6407G>A (p.R2136H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132283403C>T" "" "pathogenic" "" "0000295776" "0" "10" "9" "135158690" "135158690" "subst" "0.0147767" "02330" "SETX_000099" "g.135158690C>T" "" "" "" "SETX(NM_015046.5):c.6507G>A (p.G2169=), SETX(NM_015046.7):c.6507G>A (p.G2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132283303C>T" "" "benign" "" "0000295778" "0" "10" "9" "135139901" "135139901" "subst" "0.38054" "02330" "SETX_000084" "g.135139901T>C" "" "" "" "SETX(NM_015046.5):c.7759A>G (p.I2587V), SETX(NM_015046.7):c.7759A>G (p.I2587V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264514T>C" "" "benign" "" "0000295779" "0" "10" "9" "135139826" "135139826" "subst" "0.0842952" "02330" "SETX_000088" "g.135139826T>C" "" "" "" "SETX(NM_015046.5):c.7834A>G (p.S2612G), SETX(NM_015046.7):c.7834A>G (p.S2612G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264439T>C" "" "benign" "" "0000295780" "0" "10" "9" "135139746" "135139746" "subst" "0.000572575" "02330" "SETX_000125" "g.135139746G>A" "" "" "" "SETX(NM_001351527.1):c.7914C>T (p.F2638=), SETX(NM_015046.5):c.7914C>T (p.F2638=), SETX(NM_015046.7):c.7914C>T (p.F2638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264359G>A" "" "benign" "" "0000295781" "0" "90" "9" "135224808" "135224808" "subst" "0" "02330" "SETX_000086" "g.135224808G>A" "" "" "" "SETX(NM_015046.7):c.8C>T (p.T3I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132349421G>A" "" "pathogenic" "" "0000298138" "0" "10" "9" "135203838" "135203838" "subst" "0.107824" "02325" "SETX_000010" "g.135203838G>A" "" "" "" "SETX(NM_015046.5):c.3147C>T (p.H1049=), SETX(NM_015046.7):c.3147C>T (p.H1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328451G>A" "" "benign" "" "0000298139" "0" "30" "9" "135203417" "135203417" "subst" "0.000747882" "02325" "SETX_000154" "g.135203417T>C" "" "" "" "SETX(NM_001351527.1):c.3568A>G (p.K1190E), SETX(NM_015046.5):c.3568A>G (p.K1190E), SETX(NM_015046.7):c.3568A>G (p.K1190E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328030T>C" "" "likely benign" "" "0000298140" "0" "10" "9" "135203231" "135203231" "subst" "0.736471" "02325" "SETX_000008" "g.135203231C>T" "" "" "" "SETX(NM_015046.5):c.3754G>A (p.G1252R), SETX(NM_015046.7):c.3754G>A (p.G1252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327844C>T" "" "benign" "" "0000298141" "0" "10" "9" "135202829" "135202829" "subst" "0.736559" "02325" "SETX_000048" "g.135202829T>C" "" "" "" "SETX(NM_015046.5):c.4156A>G (p.I1386V), SETX(NM_015046.7):c.4156A>G (p.I1386V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327442T>C" "" "benign" "" "0000298142" "0" "10" "9" "135187128" "135187128" "subst" "0.245991" "02325" "SETX_000051" "g.135187128G>A" "" "" "" "SETX(NM_015046.5):c.5374+16C>T, SETX(NM_015046.7):c.5374+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132311741G>A" "" "benign" "" "0000298143" "0" "10" "9" "135173685" "135173685" "subst" "0.263904" "02325" "SETX_000053" "g.135173685T>C" "" "" "" "SETX(NM_015046.5):c.5563A>G (p.T1855A), SETX(NM_015046.7):c.5563A>G (p.T1855A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132298298T>C" "" "benign" "" "0000298144" "0" "10" "9" "135173455" "135173455" "dup" "0" "02325" "SETX_000104" "g.135173455dup" "" "" "" "SETX(NM_015046.5):c.5781+12dupT, SETX(NM_015046.7):c.5781+12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132298068dup" "" "benign" "" "0000298145" "0" "10" "9" "135152555" "135152555" "dup" "0" "02325" "SETX_000196" "g.135152555dup" "" "" "" "SETX(NM_015046.5):c.6843-5dupT, SETX(NM_015046.5):c.6843-5dupT (p.?), SETX(NM_015046.7):c.6843-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132277168dup" "" "benign" "" "0000298146" "0" "10" "9" "135139901" "135139901" "subst" "0.38054" "02325" "SETX_000084" "g.135139901T>C" "" "" "" "SETX(NM_015046.5):c.7759A>G (p.I2587V), SETX(NM_015046.7):c.7759A>G (p.I2587V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264514T>C" "" "benign" "" "0000299429" "0" "30" "9" "135205521" "135205521" "subst" "7.32887E-5" "02329" "SETX_000173" "g.135205521G>A" "" "" "" "SETX(NM_015046.7):c.1464C>T (p.A488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132330134G>A" "" "likely benign" "" "0000299431" "0" "10" "9" "135205006" "135205006" "subst" "0.115986" "02329" "SETX_000045" "g.135205006G>C" "" "" "" "SETX(NM_015046.5):c.1979C>G (p.A660G), SETX(NM_015046.7):c.1979C>G (p.A660G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329619G>C" "" "benign" "" "0000299432" "0" "30" "9" "135204981" "135204983" "del" "0" "02329" "SETX_000169" "g.135204981_135204983del" "" "" "" "SETX(NM_015046.7):c.2005_2007delAAT (p.N669del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329594_132329596del" "" "likely benign" "" "0000299433" "0" "30" "9" "135204943" "135204943" "subst" "4.07385E-6" "02329" "SETX_000168" "g.135204943T>C" "" "" "" "SETX(NM_015046.7):c.2042A>G (p.D681G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329556T>C" "" "likely benign" "" "0000299434" "0" "30" "9" "135204506" "135204506" "subst" "0.000828713" "02329" "SETX_000164" "g.135204506T>C" "" "" "" "SETX(NM_015046.5):c.2479A>G (p.K827E, p.(Lys827Glu)), SETX(NM_015046.7):c.2479A>G (p.K827E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329119T>C" "" "likely benign" "" "0000299435" "0" "30" "9" "135204394" "135204394" "subst" "2.97652E-5" "02329" "SETX_000161" "g.135204394G>A" "" "" "" "SETX(NM_015046.7):c.2591C>T (p.P864L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329007G>A" "" "likely benign" "" "0000299436" "0" "10" "9" "135204010" "135204010" "subst" "0.0154923" "02329" "SETX_000022" "g.135204010T>C" "" "" "" "SETX(NM_015046.5):c.2975A>G (p.K992R), SETX(NM_015046.7):c.2975A>G (p.K992R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328623T>C" "" "benign" "" "0000299437" "0" "10" "9" "135203838" "135203838" "subst" "0.107824" "02329" "SETX_000010" "g.135203838G>A" "" "" "" "SETX(NM_015046.5):c.3147C>T (p.H1049=), SETX(NM_015046.7):c.3147C>T (p.H1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328451G>A" "" "benign" "" "0000299438" "0" "30" "9" "135203803" "135203803" "subst" "0.00359136" "02329" "SETX_000160" "g.135203803G>A" "" "" "" "SETX(NM_001351527.2):c.3182C>T (p.P1061L), SETX(NM_015046.7):c.3182C>T (p.P1061L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328416G>A" "" "likely benign" "" "0000299439" "0" "30" "9" "135203640" "135203640" "subst" "0.000459925" "02329" "SETX_000157" "g.135203640G>C" "" "" "" "SETX(NM_001351527.2):c.3345C>G (p.A1115=), SETX(NM_015046.5):c.3345C>G (p.A1115=), SETX(NM_015046.7):c.3345C>G (p.A1115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328253G>C" "" "likely benign" "" "0000299440" "0" "10" "9" "135203231" "135203231" "subst" "0.736471" "02329" "SETX_000008" "g.135203231C>T" "" "" "" "SETX(NM_015046.5):c.3754G>A (p.G1252R), SETX(NM_015046.7):c.3754G>A (p.G1252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327844C>T" "" "benign" "" "0000299441" "0" "30" "9" "135221659" "135221659" "subst" "3.65678E-5" "02329" "SETX_000208" "g.135221659T>C" "" "" "" "SETX(NM_015046.7):c.377A>G (p.H126R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132346272T>C" "" "likely benign" "" "0000299442" "0" "30" "9" "135203017" "135203017" "subst" "4.47318E-5" "02329" "SETX_000151" "g.135203017C>T" "" "" "" "SETX(NM_015046.7):c.3968G>A (p.R1323Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327630C>T" "" "likely benign" "" "0000299443" "0" "30" "9" "135202895" "135202895" "subst" "4.8765E-5" "02329" "SETX_000149" "g.135202895T>C" "" "" "" "SETX(NM_001351527.1):c.4090A>G (p.R1364G), SETX(NM_015046.7):c.4090A>G (p.R1364G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327508T>C" "" "likely benign" "" "0000299444" "0" "10" "9" "135202829" "135202829" "subst" "0.736559" "02329" "SETX_000048" "g.135202829T>C" "" "" "" "SETX(NM_015046.5):c.4156A>G (p.I1386V), SETX(NM_015046.7):c.4156A>G (p.I1386V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327442T>C" "" "benign" "" "0000299445" "0" "30" "9" "135202788" "135202788" "subst" "0.00048341" "02329" "SETX_000147" "g.135202788T>C" "" "" "" "SETX(NM_001351527.1):c.4197A>G (p.T1399=), SETX(NM_001351527.2):c.4197A>G (p.T1399=), SETX(NM_015046.5):c.4197A>G (p.T1399=), SETX(NM_015046.7):c.4..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327401T>C" "" "likely benign" "" "0000299446" "0" "30" "9" "135202373" "135202373" "subst" "0.000333401" "02329" "SETX_000145" "g.135202373G>A" "" "" "" "SETX(NM_001351527.2):c.4612C>T (p.R1538W), SETX(NM_015046.7):c.4612C>T (p.R1538W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326986G>A" "" "likely benign" "" "0000299447" "0" "70" "9" "135202355" "135202356" "del" "0" "02329" "SETX_000144" "g.135202355_135202356del" "" "" "" "SETX(NM_015046.7):c.4630_4631delTT (p.L1544Efs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326968_132326969del" "" "likely pathogenic" "" "0000299448" "0" "30" "9" "135202228" "135202228" "subst" "0" "02329" "SETX_000142" "g.135202228G>A" "" "" "" "SETX(NM_015046.7):c.4757C>T (p.P1586L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326841G>A" "" "likely benign" "" "0000299449" "0" "30" "9" "135202120" "135202120" "subst" "7.31131E-5" "02329" "SETX_000141" "g.135202120G>A" "" "" "" "SETX(NM_015046.5):c.4865C>T (p.P1622L), SETX(NM_015046.7):c.4865C>T (p.P1622L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326733G>A" "" "likely benign" "" "0000299450" "0" "10" "9" "135187128" "135187128" "subst" "0.245991" "02329" "SETX_000051" "g.135187128G>A" "" "" "" "SETX(NM_015046.5):c.5374+16C>T, SETX(NM_015046.7):c.5374+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132311741G>A" "" "benign" "" "0000299451" "0" "30" "9" "135176206" "135176208" "del" "0" "02329" "SETX_000138" "g.135176206_135176208del" "" "" "" "SETX(NM_015046.5):c.5375-12_5375-10delCTT, SETX(NM_015046.7):c.5375-12_5375-10delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132300819_132300821del" "" "likely benign" "" "0000299452" "0" "10" "9" "135173685" "135173685" "subst" "0.263904" "02329" "SETX_000053" "g.135173685T>C" "" "" "" "SETX(NM_015046.5):c.5563A>G (p.T1855A), SETX(NM_015046.7):c.5563A>G (p.T1855A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132298298T>C" "" "benign" "" "0000299454" "0" "10" "9" "135224757" "135224757" "subst" "0.00928265" "02329" "SETX_000210" "g.135224757C>T" "" "" "" "SETX(NM_015046.5):c.59G>A (p.R20H), SETX(NM_015046.7):c.59G>A (p.R20H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132349370C>T" "" "benign" "" "0000299455" "0" "10" "9" "135171245" "135171245" "subst" "0.0150902" "02329" "SETX_000132" "g.135171245C>T" "" "" "" "SETX(NM_015046.5):c.6106+14G>A, SETX(NM_015046.7):c.6106+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132295858C>T" "" "benign" "" "0000299456" "0" "10" "9" "135158690" "135158690" "subst" "0.0147767" "02329" "SETX_000099" "g.135158690C>T" "" "" "" "SETX(NM_015046.5):c.6507G>A (p.G2169=), SETX(NM_015046.7):c.6507G>A (p.G2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132283303C>T" "" "benign" "" "0000299459" "0" "30" "9" "135147182" "135147182" "subst" "0.00603941" "02329" "SETX_000192" "g.135147182C>T" "" "" "" "SETX(NM_015046.5):c.7114G>A (p.D2372N), SETX(NM_015046.7):c.7114G>A (p.D2372N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132271795C>T" "" "likely benign" "" "0000299461" "0" "30" "9" "135144993" "135144993" "subst" "8.52917E-5" "02329" "SETX_000190" "g.135144993G>T" "" "" "" "SETX(NM_015046.7):c.7287+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132269606G>T" "" "likely benign" "" "0000299462" "0" "30" "9" "135140391" "135140391" "subst" "0.000124218" "02329" "SETX_000189" "g.135140391G>A" "" "" "" "SETX(NM_015046.7):c.7288-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132265004G>A" "" "likely benign" "" "0000299464" "0" "10" "9" "135139901" "135139901" "subst" "0.38054" "02329" "SETX_000084" "g.135139901T>C" "" "" "" "SETX(NM_015046.5):c.7759A>G (p.I2587V), SETX(NM_015046.7):c.7759A>G (p.I2587V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264514T>C" "" "benign" "" "0000299465" "0" "10" "9" "135139826" "135139826" "subst" "0.0842952" "02329" "SETX_000088" "g.135139826T>C" "" "" "" "SETX(NM_015046.5):c.7834A>G (p.S2612G), SETX(NM_015046.7):c.7834A>G (p.S2612G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264439T>C" "" "benign" "" "0000299466" "0" "30" "9" "135139746" "135139746" "subst" "0.000572575" "02329" "SETX_000125" "g.135139746G>A" "" "" "" "SETX(NM_001351527.1):c.7914C>T (p.F2638=), SETX(NM_015046.5):c.7914C>T (p.F2638=), SETX(NM_015046.7):c.7914C>T (p.F2638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264359G>A" "" "likely benign" "" "0000299467" "0" "30" "9" "135224736" "135224736" "subst" "2.43633E-5" "02329" "SETX_000209" "g.135224736G>A" "" "" "" "SETX(NM_015046.7):c.80C>T (p.S27F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132349349G>A" "" "likely benign" "" "0000299468" "0" "30" "9" "135224807" "135224807" "subst" "7.71536E-5" "02329" "SETX_000211" "g.135224807T>C" "" "" "" "SETX(NM_015046.7):c.9A>G (p.T3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132349420T>C" "" "likely benign" "" "0000302054" "0" "10" "9" "135205006" "135205006" "subst" "0.115986" "02326" "SETX_000045" "g.135205006G>C" "" "" "" "SETX(NM_015046.5):c.1979C>G (p.A660G), SETX(NM_015046.7):c.1979C>G (p.A660G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329619G>C" "" "benign" "" "0000302055" "0" "10" "9" "135204769" "135204769" "subst" "0.000863537" "02326" "SETX_000167" "g.135204769C>T" "" "" "" "SETX(NM_015046.5):c.2216G>A (p.G739E), SETX(NM_015046.7):c.2216G>A (p.G739E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329382C>T" "" "benign" "" "0000302056" "0" "30" "9" "135204624" "135204624" "subst" "0" "02326" "SETX_000166" "g.135204624G>A" "" "" "" "SETX(NM_015046.5):c.2361C>T (p.I787=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329237G>A" "" "likely benign" "" "0000302057" "0" "30" "9" "135204010" "135204010" "subst" "0.0154923" "02326" "SETX_000022" "g.135204010T>C" "" "" "" "SETX(NM_015046.5):c.2975A>G (p.K992R), SETX(NM_015046.7):c.2975A>G (p.K992R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328623T>C" "" "likely benign" "" "0000302058" "0" "10" "9" "135203231" "135203231" "subst" "0.736471" "02326" "SETX_000008" "g.135203231C>T" "" "" "" "SETX(NM_015046.5):c.3754G>A (p.G1252R), SETX(NM_015046.7):c.3754G>A (p.G1252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327844C>T" "" "benign" "" "0000302059" "0" "10" "9" "135221579" "135221579" "subst" "0" "02326" "SETX_000207" "g.135221579T>G" "" "" "" "SETX(NM_015046.5):c.388+69A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132346192T>G" "" "benign" "" "0000302060" "0" "10" "9" "135202829" "135202829" "subst" "0.736559" "02326" "SETX_000048" "g.135202829T>C" "" "" "" "SETX(NM_015046.5):c.4156A>G (p.I1386V), SETX(NM_015046.7):c.4156A>G (p.I1386V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327442T>C" "" "benign" "" "0000302061" "0" "30" "9" "135202003" "135202003" "subst" "0.00025591" "02326" "SETX_000140" "g.135202003G>C" "" "" "" "SETX(NM_001351527.2):c.4982C>G (p.P1661R), SETX(NM_015046.5):c.4982C>G (p.P1661R), SETX(NM_015046.7):c.4982C>G (p.P1661R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326616G>C" "" "likely benign" "" "0000302062" "0" "10" "9" "135187128" "135187128" "subst" "0.245991" "02326" "SETX_000051" "g.135187128G>A" "" "" "" "SETX(NM_015046.5):c.5374+16C>T, SETX(NM_015046.7):c.5374+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132311741G>A" "" "benign" "" "0000302063" "0" "10" "9" "135173685" "135173685" "subst" "0.263904" "02326" "SETX_000053" "g.135173685T>C" "" "" "" "SETX(NM_015046.5):c.5563A>G (p.T1855A), SETX(NM_015046.7):c.5563A>G (p.T1855A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132298298T>C" "" "benign" "" "0000302064" "0" "10" "9" "135224757" "135224757" "subst" "0.00928265" "02326" "SETX_000210" "g.135224757C>T" "" "" "" "SETX(NM_015046.5):c.59G>A (p.R20H), SETX(NM_015046.7):c.59G>A (p.R20H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132349370C>T" "" "benign" "" "0000302065" "0" "10" "9" "135171245" "135171245" "subst" "0.0150902" "02326" "SETX_000132" "g.135171245C>T" "" "" "" "SETX(NM_015046.5):c.6106+14G>A, SETX(NM_015046.7):c.6106+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132295858C>T" "" "benign" "" "0000302066" "0" "10" "9" "135161779" "135161779" "dup" "0" "02326" "SETX_000129" "g.135161779dup" "" "" "" "SETX(NM_015046.5):c.6396+43dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132286392dup" "" "benign" "" "0000302067" "0" "10" "9" "135158690" "135158690" "subst" "0.0147767" "02326" "SETX_000099" "g.135158690C>T" "" "" "" "SETX(NM_015046.5):c.6507G>A (p.G2169=), SETX(NM_015046.7):c.6507G>A (p.G2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132283303C>T" "" "benign" "" "0000302068" "0" "10" "9" "135152555" "135152555" "dup" "0" "02326" "SETX_000196" "g.135152555dup" "" "" "" "SETX(NM_015046.5):c.6843-5dupT, SETX(NM_015046.5):c.6843-5dupT (p.?), SETX(NM_015046.7):c.6843-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132277168dup" "" "benign" "" "0000302069" "0" "50" "9" "135140255" "135140255" "subst" "8.12367E-6" "02326" "SETX_000187" "g.135140255G>A" "" "" "" "SETX(NM_015046.5):c.7405C>T (p.L2469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264868G>A" "" "VUS" "" "0000302070" "0" "30" "9" "135140228" "135140228" "subst" "0.000231493" "02326" "SETX_000186" "g.135140228T>C" "" "" "" "SETX(NM_015046.5):c.7432A>G (p.T2478A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264841T>C" "" "likely benign" "" "0000302071" "0" "10" "9" "135139901" "135139901" "subst" "0.38054" "02326" "SETX_000084" "g.135139901T>C" "" "" "" "SETX(NM_015046.5):c.7759A>G (p.I2587V), SETX(NM_015046.7):c.7759A>G (p.I2587V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264514T>C" "" "benign" "" "0000302072" "0" "10" "9" "135139826" "135139826" "subst" "0.0842952" "02326" "SETX_000088" "g.135139826T>C" "" "" "" "SETX(NM_015046.5):c.7834A>G (p.S2612G), SETX(NM_015046.7):c.7834A>G (p.S2612G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264439T>C" "" "benign" "" "0000302073" "0" "30" "9" "135139746" "135139746" "subst" "0.000572575" "02326" "SETX_000125" "g.135139746G>A" "" "" "" "SETX(NM_001351527.1):c.7914C>T (p.F2638=), SETX(NM_015046.5):c.7914C>T (p.F2638=), SETX(NM_015046.7):c.7914C>T (p.F2638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264359G>A" "" "likely benign" "" "0000307934" "0" "30" "9" "135206650" "135206650" "subst" "8.12605E-6" "01943" "SETX_000202" "g.135206650T>G" "" "" "" "SETX(NM_015046.5):c.1010+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132331263T>G" "" "likely benign" "" "0000307935" "0" "30" "9" "135205893" "135205893" "subst" "8.26562E-6" "01943" "SETX_000200" "g.135205893T>C" "" "" "" "SETX(NM_015046.5):c.1099-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132330506T>C" "" "likely benign" "" "0000307936" "0" "50" "9" "135205481" "135205481" "subst" "0.000536363" "01943" "SETX_000171" "g.135205481G>A" "" "" "" "SETX(NM_015046.5):c.1504C>T (p.R502W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132330094G>A" "" "VUS" "" "0000307937" "0" "10" "9" "135205028" "135205028" "subst" "0.00144694" "01943" "SETX_000021" "g.135205028G>T" "" "" "" "SETX(NM_015046.5):c.1957C>A (p.Q653K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329641G>T" "" "benign" "" "0000307938" "0" "10" "9" "135205006" "135205006" "subst" "0.115986" "01943" "SETX_000045" "g.135205006G>C" "" "" "" "SETX(NM_015046.5):c.1979C>G (p.A660G), SETX(NM_015046.7):c.1979C>G (p.A660G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329619G>C" "" "benign" "" "0000307939" "0" "30" "9" "135204560" "135204560" "subst" "2.46486E-5" "01943" "SETX_000165" "g.135204560T>C" "" "" "" "SETX(NM_015046.5):c.2425A>G (p.I809V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329173T>C" "" "likely benign" "" "0000307940" "0" "30" "9" "135204506" "135204506" "subst" "0.000828713" "01943" "SETX_000164" "g.135204506T>C" "" "" "" "SETX(NM_015046.5):c.2479A>G (p.K827E, p.(Lys827Glu)), SETX(NM_015046.7):c.2479A>G (p.K827E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329119T>C" "" "likely benign" "" "0000307941" "0" "30" "9" "135204483" "135204483" "subst" "7.44836E-5" "01943" "SETX_000163" "g.135204483T>C" "" "" "" "SETX(NM_001351527.2):c.2502A>G (p.G834=), SETX(NM_015046.5):c.2502A>G (p.G834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329096T>C" "" "likely benign" "" "0000307942" "0" "10" "9" "135204010" "135204010" "subst" "0.0154923" "01943" "SETX_000022" "g.135204010T>C" "" "" "" "SETX(NM_015046.5):c.2975A>G (p.K992R), SETX(NM_015046.7):c.2975A>G (p.K992R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328623T>C" "" "benign" "" "0000307943" "0" "10" "9" "135203838" "135203838" "subst" "0.107824" "01943" "SETX_000010" "g.135203838G>A" "" "" "" "SETX(NM_015046.5):c.3147C>T (p.H1049=), SETX(NM_015046.7):c.3147C>T (p.H1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328451G>A" "" "benign" "" "0000307944" "0" "30" "9" "135203640" "135203640" "subst" "0.000459925" "01943" "SETX_000157" "g.135203640G>C" "" "" "" "SETX(NM_001351527.2):c.3345C>G (p.A1115=), SETX(NM_015046.5):c.3345C>G (p.A1115=), SETX(NM_015046.7):c.3345C>G (p.A1115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328253G>C" "" "likely benign" "" "0000307945" "0" "30" "9" "135203493" "135203493" "subst" "1.21973E-5" "01943" "SETX_000155" "g.135203493T>C" "" "" "" "SETX(NM_015046.5):c.3492A>G (p.R1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328106T>C" "" "likely benign" "" "0000307946" "0" "30" "9" "135203334" "135203334" "subst" "7.72502E-5" "01943" "SETX_000153" "g.135203334C>T" "" "" "" "SETX(NM_015046.5):c.3651G>A (p.T1217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327947C>T" "" "likely benign" "" "0000307947" "0" "10" "9" "135203231" "135203231" "subst" "0.736471" "01943" "SETX_000008" "g.135203231C>T" "" "" "" "SETX(NM_015046.5):c.3754G>A (p.G1252R), SETX(NM_015046.7):c.3754G>A (p.G1252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327844C>T" "" "benign" "" "0000307948" "0" "30" "9" "135203095" "135203095" "subst" "0.000129976" "01943" "SETX_000152" "g.135203095T>A" "" "" "" "SETX(NM_015046.5):c.3890A>T (p.Y1297F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327708T>A" "" "likely benign" "" "0000307949" "0" "50" "9" "135202993" "135202993" "subst" "0.000426843" "01943" "SETX_000150" "g.135202993G>A" "" "" "" "SETX(NM_015046.5):c.3992C>T (p.P1331L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327606G>A" "" "VUS" "" "0000307950" "0" "10" "9" "135202829" "135202829" "subst" "0.736559" "01943" "SETX_000048" "g.135202829T>C" "" "" "" "SETX(NM_015046.5):c.4156A>G (p.I1386V), SETX(NM_015046.7):c.4156A>G (p.I1386V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327442T>C" "" "benign" "" "0000307951" "0" "30" "9" "135202595" "135202595" "subst" "4.87424E-5" "01943" "SETX_000146" "g.135202595G>A" "" "" "" "SETX(NM_015046.5):c.4390C>T (p.P1464S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327208G>A" "" "likely benign" "" "0000307952" "0" "30" "9" "135202003" "135202003" "subst" "0.00025591" "01943" "SETX_000140" "g.135202003G>C" "" "" "" "SETX(NM_001351527.2):c.4982C>G (p.P1661R), SETX(NM_015046.5):c.4982C>G (p.P1661R), SETX(NM_015046.7):c.4982C>G (p.P1661R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326616G>C" "" "likely benign" "" "0000307953" "0" "30" "9" "135201714" "135201714" "subst" "0.00030472" "01943" "SETX_000139" "g.135201714T>C" "" "" "" "SETX(NM_001351527.2):c.5271A>G (p.E1757=), SETX(NM_015046.5):c.5271A>G (p.E1757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326327T>C" "" "likely benign" "" "0000307954" "0" "10" "9" "135187128" "135187128" "subst" "0.245991" "01943" "SETX_000051" "g.135187128G>A" "" "" "" "SETX(NM_015046.5):c.5374+16C>T, SETX(NM_015046.7):c.5374+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132311741G>A" "" "benign" "" "0000307955" "0" "10" "9" "135176206" "135176208" "del" "0" "01943" "SETX_000138" "g.135176206_135176208del" "" "" "" "SETX(NM_015046.5):c.5375-12_5375-10delCTT, SETX(NM_015046.7):c.5375-12_5375-10delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132300819_132300821del" "" "benign" "" "0000307956" "0" "50" "9" "135176029" "135176029" "subst" "0.000215419" "01943" "SETX_000136" "g.135176029G>A" "" "" "" "SETX(NM_015046.5):c.5536C>T (p.R1846C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132300642G>A" "" "VUS" "" "0000307957" "0" "10" "9" "135173685" "135173685" "subst" "0.263904" "01943" "SETX_000053" "g.135173685T>C" "" "" "" "SETX(NM_015046.5):c.5563A>G (p.T1855A), SETX(NM_015046.7):c.5563A>G (p.T1855A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132298298T>C" "" "benign" "" "0000307959" "0" "10" "9" "135224757" "135224757" "subst" "0.00928265" "01943" "SETX_000210" "g.135224757C>T" "" "" "" "SETX(NM_015046.5):c.59G>A (p.R20H), SETX(NM_015046.7):c.59G>A (p.R20H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132349370C>T" "" "benign" "" "0000307960" "0" "10" "9" "135171245" "135171245" "subst" "0.0150902" "01943" "SETX_000132" "g.135171245C>T" "" "" "" "SETX(NM_015046.5):c.6106+14G>A, SETX(NM_015046.7):c.6106+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132295858C>T" "" "benign" "" "0000307961" "0" "90" "9" "135171259" "135171259" "subst" "0" "01943" "SETX_000101" "g.135171259C>T" "" "" "" "SETX(NM_015046.5):c.6106G>A (p.G2036R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132295872C>T" "" "pathogenic" "" "0000307962" "0" "50" "9" "135163979" "135163979" "subst" "8.12678E-6" "01943" "SETX_000131" "g.135163979C>T" "" "" "" "SETX(NM_015046.5):c.6166G>A (p.V2056I, p.(Val2056Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132288592C>T" "" "VUS" "" "0000307963" "0" "50" "9" "135211776" "135211776" "subst" "4.06118E-6" "01943" "SETX_000206" "g.135211776C>T" "" "" "" "SETX(NM_015046.5):c.625G>A (p.D209N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132336389C>T" "" "VUS" "" "0000307964" "0" "30" "9" "135158690" "135158690" "subst" "0.0147767" "01943" "SETX_000099" "g.135158690C>T" "" "" "" "SETX(NM_015046.5):c.6507G>A (p.G2169=), SETX(NM_015046.7):c.6507G>A (p.G2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132283303C>T" "" "likely benign" "" "0000307965" "0" "30" "9" "135158680" "135158680" "subst" "1.21819E-5" "01943" "SETX_000199" "g.135158680C>T" "" "" "" "SETX(NM_015046.5):c.6517G>A (p.V2173I), SETX(NM_015046.7):c.6517G>A (p.V2173I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132283293C>T" "" "likely benign" "" "0000307966" "0" "30" "9" "135153624" "135153624" "subst" "0.000101556" "01943" "SETX_000198" "g.135153624G>A" "" "" "" "SETX(NM_015046.5):c.6675C>T (p.Y2225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132278237G>A" "" "likely benign" "" "0000307967" "0" "50" "9" "135153493" "135153493" "subst" "8.12427E-6" "01943" "SETX_000197" "g.135153493G>A" "" "" "" "SETX(NM_015046.5):c.6806C>T (p.S2269F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132278106G>A" "" "VUS" "" "0000307969" "0" "30" "9" "135150818" "135150818" "subst" "0.000287062" "01943" "SETX_000193" "g.135150818T>C" "" "" "" "SETX(NM_015046.5):c.6936-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132275431T>C" "" "likely benign" "" "0000307970" "0" "30" "9" "135147182" "135147182" "subst" "0.00603941" "01943" "SETX_000192" "g.135147182C>T" "" "" "" "SETX(NM_015046.5):c.7114G>A (p.D2372N), SETX(NM_015046.7):c.7114G>A (p.D2372N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132271795C>T" "" "likely benign" "" "0000307972" "0" "30" "9" "135210065" "135210065" "subst" "2.03052E-5" "01943" "SETX_000205" "g.135210065C>A" "" "" "" "SETX(NM_015046.5):c.768G>T (p.L256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132334678C>A" "" "likely benign" "" "0000307973" "0" "10" "9" "135139901" "135139901" "subst" "0.38054" "01943" "SETX_000084" "g.135139901T>C" "" "" "" "SETX(NM_015046.5):c.7759A>G (p.I2587V), SETX(NM_015046.7):c.7759A>G (p.I2587V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264514T>C" "" "benign" "" "0000307974" "0" "10" "9" "135139826" "135139826" "subst" "0.0842952" "01943" "SETX_000088" "g.135139826T>C" "" "" "" "SETX(NM_015046.5):c.7834A>G (p.S2612G), SETX(NM_015046.7):c.7834A>G (p.S2612G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264439T>C" "" "benign" "" "0000307975" "0" "50" "9" "135139790" "135139790" "subst" "0.000154305" "01943" "SETX_000127" "g.135139790C>A" "" "" "" "SETX(NM_001351527.2):c.7870G>T (p.D2624Y), SETX(NM_015046.5):c.7870G>T (p.D2624Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264403C>A" "" "VUS" "" "0000307976" "0" "30" "9" "135139746" "135139746" "subst" "4.06081E-6" "01943" "SETX_000126" "g.135139746G>C" "" "" "" "SETX(NM_015046.5):c.7914C>G (p.F2638L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264359G>C" "" "likely benign" "" "0000307977" "0" "30" "9" "135139678" "135139678" "subst" "0.000150281" "01943" "SETX_000124" "g.135139678T>C" "" "" "" "SETX(NM_015046.5):c.7982A>G (p.K2661R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264291T>C" "" "likely benign" "" "0000307978" "0" "30" "9" "135139670" "135139670" "subst" "0.000117797" "01943" "SETX_000123" "g.135139670G>A" "" "" "" "SETX(NM_015046.5):c.7990C>T (p.L2664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264283G>A" "" "likely benign" "" "0000307979" "0" "30" "9" "135210002" "135210002" "subst" "0" "01943" "SETX_000204" "g.135210002T>A" "" "" "" "SETX(NM_015046.5):c.831A>T (p.E277D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132334615T>A" "" "likely benign" "" "0000307980" "0" "50" "9" "135206679" "135206679" "subst" "1.62496E-5" "01943" "SETX_000203" "g.135206679C>T" "" "" "" "SETX(NM_015046.5):c.995G>A (p.R332Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132331292C>T" "" "VUS" "" "0000332852" "0" "30" "9" "135204506" "135204506" "subst" "0.000828713" "01804" "SETX_000164" "g.135204506T>C" "" "" "" "SETX(NM_015046.5):c.2479A>G (p.K827E, p.(Lys827Glu)), SETX(NM_015046.7):c.2479A>G (p.K827E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329119T>C" "" "likely benign" "" "0000337163" "0" "10" "9" "135152439" "135152439" "subst" "0.0883171" "02327" "SETX_000094" "g.135152439A>G" "" "" "" "SETX(NM_015046.5):c.6935+8T>C, SETX(NM_015046.7):c.6935+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132277052A>G" "" "benign" "" "0000337164" "0" "10" "9" "135187128" "135187128" "subst" "0.245991" "02327" "SETX_000051" "g.135187128G>A" "" "" "" "SETX(NM_015046.5):c.5374+16C>T, SETX(NM_015046.7):c.5374+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132311741G>A" "" "benign" "" "0000339046" "0" "90" "9" "135171259" "135171259" "subst" "0" "02327" "SETX_000101" "g.135171259C>T" "" "" "" "SETX(NM_015046.5):c.6106G>A (p.G2036R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132295872C>T" "" "pathogenic" "" "0000339191" "0" "10" "9" "135158690" "135158690" "subst" "0.0147767" "02327" "SETX_000099" "g.135158690C>T" "" "" "" "SETX(NM_015046.5):c.6507G>A (p.G2169=), SETX(NM_015046.7):c.6507G>A (p.G2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132283303C>T" "" "benign" "" "0000340636" "0" "10" "9" "135139755" "135139755" "subst" "0.00150245" "02327" "SETX_000176" "g.135139755G>A" "" "" "" "SETX(NM_001351527.2):c.7905C>T (p.A2635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264368G>A" "" "benign" "" "0000340718" "0" "10" "9" "135172412" "135172412" "subst" "0.263443" "02327" "SETX_000055" "g.135172412A>G" "" "" "" "SETX(NM_015046.5):c.5811T>C (p.D1937=), SETX(NM_015046.7):c.5811T>C (p.D1937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132297025A>G" "" "benign" "" "0000340799" "0" "10" "9" "135203838" "135203838" "subst" "0.107824" "02327" "SETX_000010" "g.135203838G>A" "" "" "" "SETX(NM_015046.5):c.3147C>T (p.H1049=), SETX(NM_015046.7):c.3147C>T (p.H1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328451G>A" "" "benign" "" "0000341041" "0" "10" "9" "135206460" "135206460" "subst" "0.753832" "02327" "SETX_000040" "g.135206460A>G" "" "" "" "SETX(NM_015046.5):c.1077T>C (p.Y359=), SETX(NM_015046.7):c.1077T>C (p.Y359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132331073A>G" "" "benign" "" "0000341877" "0" "90" "9" "135202896" "135202897" "ins" "0" "02327" "SETX_000184" "g.135202896_135202897insG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327509_132327510insG" "" "pathogenic" "" "0000343223" "0" "10" "9" "135205006" "135205006" "subst" "0.115986" "02327" "SETX_000045" "g.135205006G>C" "" "" "" "SETX(NM_015046.5):c.1979C>G (p.A660G), SETX(NM_015046.7):c.1979C>G (p.A660G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132329619G>C" "" "benign" "" "0000344656" "0" "90" "9" "135163625" "135163625" "subst" "0" "02327" "SETX_000182" "g.135163625G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132288238G>A" "" "pathogenic" "" "0000345304" "0" "50" "9" "135139840" "135139840" "subst" "0" "02327" "SETX_000177" "g.135139840T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264453T>C" "" "VUS" "" "0000345675" "0" "10" "9" "135203231" "135203231" "subst" "0.736471" "02327" "SETX_000008" "g.135203231C>T" "" "" "" "SETX(NM_015046.5):c.3754G>A (p.G1252R), SETX(NM_015046.7):c.3754G>A (p.G1252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327844C>T" "" "benign" "" "0000346575" "0" "10" "9" "135202829" "135202829" "subst" "0.736559" "02327" "SETX_000048" "g.135202829T>C" "" "" "" "SETX(NM_015046.5):c.4156A>G (p.I1386V), SETX(NM_015046.7):c.4156A>G (p.I1386V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132327442T>C" "" "benign" "" "0000346656" "0" "10" "9" "135139901" "135139901" "subst" "0.38054" "02327" "SETX_000084" "g.135139901T>C" "" "" "" "SETX(NM_015046.5):c.7759A>G (p.I2587V), SETX(NM_015046.7):c.7759A>G (p.I2587V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264514T>C" "" "benign" "" "0000347936" "0" "10" "9" "135203530" "135203530" "subst" "0.0645664" "02327" "SETX_000046" "g.135203530A>C" "" "" "" "SETX(NM_015046.5):c.3455T>G (p.F1152C), SETX(NM_015046.7):c.3455T>G (p.F1152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132328143A>C" "" "benign" "" "0000348289" "0" "70" "9" "135156870" "135156870" "subst" "4.06161E-6" "02327" "SETX_000014" "g.135156870G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132281483G>A" "" "likely pathogenic" "" "0000348882" "0" "10" "9" "135139826" "135139826" "subst" "0.0842952" "02327" "SETX_000088" "g.135139826T>C" "" "" "" "SETX(NM_015046.5):c.7834A>G (p.S2612G), SETX(NM_015046.7):c.7834A>G (p.S2612G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132264439T>C" "" "benign" "" "0000349330" "0" "10" "9" "135173685" "135173685" "subst" "0.263904" "02327" "SETX_000053" "g.135173685T>C" "" "" "" "SETX(NM_015046.5):c.5563A>G (p.T1855A), SETX(NM_015046.7):c.5563A>G (p.T1855A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132298298T>C" "" "benign" "" "0000350896" "0" "30" "9" "135150634" "135150634" "subst" "0.000190956" "02327" "SETX_000180" "g.135150634A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132275247A>G" "" "likely benign" "" "0000350897" "0" "10" "9" "135202230" "135202230" "subst" "0.00610638" "02327" "SETX_000143" "g.135202230A>C" "" "" "" "SETX(NM_015046.5):c.4755T>G (p.P1585=), SETX(NM_015046.7):c.4755T>G (p.P1585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132326843A>C" "" "benign" "" "0000356889" "0" "90" "9" "135153459" "135153462" "del" "0" "01807" "SETX_000185" "g.135153459_135153462del" "" "" "" "6838_6841delAATA" "" "Unknown" "" "" "0" "" "" "g.132278072_132278075del" "" "pathogenic" "" "0000356890" "0" "90" "9" "135204653" "135204653" "subst" "4.07448E-6" "01807" "SETX_000015" "g.135204653G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.132329266G>A" "" "pathogenic" "" "0000442736" "0" "50" "9" "135211691" "135211691" "subst" "3.24892E-5" "01164" "SETX_000214" "g.135211691T>C" "" "" "" "" "ACMG grading: PP3,PM2" "Germline" "" "rs138538492" "0" "" "" "g.132336304T>C" "" "VUS" "ACMG" "0000536647" "0" "30" "9" "135139681" "135139681" "subst" "7.71686E-5" "01943" "SETX_000215" "g.135139681T>C" "" "" "" "SETX(NM_015046.5):c.7979A>G (p.D2660G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264294T>C" "" "likely benign" "" "0000536648" "0" "90" "9" "135139701" "135139714" "del" "0" "01943" "SETX_000216" "g.135139701_135139714del" "" "" "" "SETX(NM_015046.5):c.7948_7961delACCCATCACACCAG (p.T2650Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264314_132264327del" "" "pathogenic" "" "0000536649" "0" "30" "9" "135139846" "135139846" "subst" "0.000211423" "02329" "SETX_000217" "g.135139846C>T" "" "" "" "SETX(NM_001351527.1):c.7814G>A (p.R2605Q), SETX(NM_015046.7):c.7814G>A (p.R2605Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264459C>T" "" "likely benign" "" "0000536650" "0" "30" "9" "135139936" "135139936" "subst" "0.000702681" "02330" "SETX_000218" "g.135139936G>A" "" "" "" "SETX(NM_001351527.1):c.7724C>T (p.P2575L), SETX(NM_001351527.2):c.7724C>T (p.P2575L), SETX(NM_015046.5):c.7724C>T (p.P2575L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264549G>A" "" "likely benign" "" "0000536651" "0" "10" "9" "135139936" "135139936" "subst" "0.000702681" "01943" "SETX_000218" "g.135139936G>A" "" "" "" "SETX(NM_001351527.1):c.7724C>T (p.P2575L), SETX(NM_001351527.2):c.7724C>T (p.P2575L), SETX(NM_015046.5):c.7724C>T (p.P2575L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264549G>A" "" "benign" "" "0000536652" "0" "50" "9" "135140020" "135140020" "dup" "0" "02329" "SETX_000219" "g.135140020dup" "" "" "" "SETX(NM_015046.7):c.7641dupT (p.E2548*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264633dup" "" "VUS" "" "0000536653" "0" "30" "9" "135140039" "135140039" "subst" "4.06055E-6" "01943" "SETX_000220" "g.135140039G>A" "" "" "" "SETX(NM_015046.5):c.7621C>T (p.L2541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264652G>A" "" "likely benign" "" "0000536654" "0" "30" "9" "135140228" "135140228" "subst" "0.000231493" "01943" "SETX_000186" "g.135140228T>C" "" "" "" "SETX(NM_015046.5):c.7432A>G (p.T2478A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264841T>C" "" "likely benign" "" "0000536655" "0" "50" "9" "135145069" "135145069" "subst" "0" "02327" "SETX_000221" "g.135145069C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132269682C>A" "" "VUS" "" "0000536656" "0" "30" "9" "135145105" "135145105" "dup" "0" "01943" "SETX_000179" "g.135145105dup" "" "" "" "SETX(NM_001351527.1):c.7200-10dupT, SETX(NM_001351527.2):c.7200-10dupT, SETX(NM_015046.5):c.7200-10dupT, SETX(NM_015046.7):c.7200-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132269718dup" "" "likely benign" "" "0000536657" "0" "30" "9" "135145105" "135145105" "dup" "0" "02329" "SETX_000179" "g.135145105dup" "" "" "" "SETX(NM_001351527.1):c.7200-10dupT, SETX(NM_001351527.2):c.7200-10dupT, SETX(NM_015046.5):c.7200-10dupT, SETX(NM_015046.7):c.7200-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132269718dup" "" "likely benign" "" "0000536658" "0" "30" "9" "135147182" "135147182" "subst" "0.00603941" "02330" "SETX_000192" "g.135147182C>T" "" "" "" "SETX(NM_015046.5):c.7114G>A (p.D2372N), SETX(NM_015046.7):c.7114G>A (p.D2372N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132271795C>T" "" "likely benign" "" "0000536659" "0" "30" "9" "135147182" "135147182" "subst" "0.00603941" "02325" "SETX_000192" "g.135147182C>T" "" "" "" "SETX(NM_015046.5):c.7114G>A (p.D2372N), SETX(NM_015046.7):c.7114G>A (p.D2372N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132271795C>T" "" "likely benign" "" "0000536660" "0" "30" "9" "135147195" "135147195" "subst" "0.000536232" "02326" "SETX_000222" "g.135147195T>C" "" "" "" "SETX(NM_015046.5):c.7101A>G (p.G2367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132271808T>C" "" "likely benign" "" "0000536661" "0" "30" "9" "135150651" "135150651" "subst" "0.000158404" "02329" "SETX_000223" "g.135150651A>G" "" "" "" "SETX(NM_015046.7):c.7092T>C (p.D2364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132275264A>G" "" "likely benign" "" "0000536662" "0" "90" "9" "135152523" "135152523" "subst" "0" "01943" "SETX_000071" "g.135152523G>A" "" "" "" "SETX(NM_015046.5):c.6859C>T (p.R2287*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277136G>A" "" "pathogenic" "" "0000536663" "0" "30" "9" "135152554" "135152555" "del" "0" "02329" "SETX_000224" "g.135152554_135152555del" "" "" "" "SETX(NM_015046.7):c.6843-6_6843-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277167_132277168del" "" "likely benign" "" "0000536664" "0" "10" "9" "135152554" "135152555" "dup" "0" "02329" "SETX_000225" "g.135152554_135152555dup" "" "" "" "SETX(NM_001351527.2):c.6843-6_6843-5dupTT, SETX(NM_015046.7):c.6843-6_6843-5dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277167_132277168dup" "" "benign" "" "0000536665" "0" "10" "9" "135152555" "135152555" "del" "0" "02330" "SETX_000226" "g.135152555del" "" "" "" "SETX(NM_015046.7):c.6843-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277168del" "" "benign" "" "0000536666" "0" "10" "9" "135152555" "135152555" "del" "0" "02329" "SETX_000226" "g.135152555del" "" "" "" "SETX(NM_015046.7):c.6843-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277168del" "" "benign" "" "0000536667" "0" "10" "9" "135152555" "135152555" "dup" "0" "02330" "SETX_000196" "g.135152555dup" "" "" "" "SETX(NM_015046.5):c.6843-5dupT, SETX(NM_015046.5):c.6843-5dupT (p.?), SETX(NM_015046.7):c.6843-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277168dup" "" "benign" "" "0000536668" "0" "10" "9" "135152555" "135152555" "dup" "0" "01943" "SETX_000196" "g.135152555dup" "" "" "" "SETX(NM_015046.5):c.6843-5dupT, SETX(NM_015046.5):c.6843-5dupT (p.?), SETX(NM_015046.7):c.6843-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277168dup" "" "benign" "" "0000536669" "0" "10" "9" "135152555" "135152555" "dup" "0" "02329" "SETX_000196" "g.135152555dup" "" "" "" "SETX(NM_015046.5):c.6843-5dupT, SETX(NM_015046.5):c.6843-5dupT (p.?), SETX(NM_015046.7):c.6843-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277168dup" "" "benign" "" "0000536670" "0" "10" "9" "135152577" "135152577" "subst" "0.0172897" "02326" "SETX_000227" "g.135152577G>A" "" "" "" "SETX(NM_015046.5):c.6843-38C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277190G>A" "" "benign" "" "0000536671" "0" "30" "9" "135158559" "135158559" "del" "0" "02326" "SETX_000228" "g.135158559del" "" "" "" "SETX(NM_015046.5):c.6546+103delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132283172del" "" "likely benign" "" "0000536672" "0" "50" "9" "135158680" "135158680" "subst" "1.21819E-5" "02330" "SETX_000199" "g.135158680C>T" "" "" "" "SETX(NM_015046.5):c.6517G>A (p.V2173I), SETX(NM_015046.7):c.6517G>A (p.V2173I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132283293C>T" "" "VUS" "" "0000536673" "0" "50" "9" "135158740" "135158740" "subst" "0" "02329" "SETX_000229" "g.135158740A>G" "" "" "" "SETX(NM_015046.7):c.6457T>C (p.C2153R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132283353A>G" "" "VUS" "" "0000536675" "0" "30" "9" "135164037" "135164037" "subst" "0.000717132" "01943" "SETX_000231" "g.135164037T>C" "" "" "" "SETX(NM_001351527.1):c.6108A>G (p.G2036=), SETX(NM_015046.5):c.6108A>G (p.G2036=), SETX(NM_015046.7):c.6108A>G (p.G2036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132288650T>C" "" "likely benign" "" "0000536676" "0" "30" "9" "135164037" "135164037" "subst" "0.000717132" "02325" "SETX_000231" "g.135164037T>C" "" "" "" "SETX(NM_001351527.1):c.6108A>G (p.G2036=), SETX(NM_015046.5):c.6108A>G (p.G2036=), SETX(NM_015046.7):c.6108A>G (p.G2036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132288650T>C" "" "likely benign" "" "0000536677" "0" "30" "9" "135164037" "135164037" "subst" "0.000717132" "02329" "SETX_000231" "g.135164037T>C" "" "" "" "SETX(NM_001351527.1):c.6108A>G (p.G2036=), SETX(NM_015046.5):c.6108A>G (p.G2036=), SETX(NM_015046.7):c.6108A>G (p.G2036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132288650T>C" "" "likely benign" "" "0000536678" "0" "30" "9" "135172269" "135172269" "subst" "0.000726939" "01943" "SETX_000232" "g.135172269C>T" "" "" "" "SETX(NM_015046.5):c.5949+5G>A, SETX(NM_015046.7):c.5949+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132296882C>T" "" "likely benign" "" "0000536679" "0" "50" "9" "135172269" "135172269" "subst" "0.000726939" "02329" "SETX_000232" "g.135172269C>T" "" "" "" "SETX(NM_015046.5):c.5949+5G>A, SETX(NM_015046.7):c.5949+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132296882C>T" "" "VUS" "" "0000536680" "0" "30" "9" "135172292" "135172292" "subst" "4.06118E-6" "01943" "SETX_000233" "g.135172292G>C" "" "" "" "SETX(NM_015046.5):c.5931C>G (p.L1977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132296905G>C" "" "likely benign" "" "0000536681" "0" "30" "9" "135172338" "135172338" "subst" "0" "01943" "SETX_000234" "g.135172338T>C" "" "" "" "SETX(NM_015046.5):c.5885A>G (p.H1962R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132296951T>C" "" "likely benign" "" "0000536682" "0" "10" "9" "135173455" "135173455" "dup" "0" "01943" "SETX_000104" "g.135173455dup" "" "" "" "SETX(NM_015046.5):c.5781+12dupT, SETX(NM_015046.7):c.5781+12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132298068dup" "" "benign" "" "0000536683" "0" "10" "9" "135173455" "135173455" "dup" "0" "02329" "SETX_000104" "g.135173455dup" "" "" "" "SETX(NM_015046.5):c.5781+12dupT, SETX(NM_015046.7):c.5781+12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132298068dup" "" "benign" "" "0000536684" "0" "30" "9" "135201934" "135201934" "subst" "0.000130016" "01943" "SETX_000235" "g.135201934G>C" "" "" "" "SETX(NM_015046.5):c.5051C>G (p.S1684C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326547G>C" "" "likely benign" "" "0000536685" "0" "30" "9" "135201966" "135201966" "subst" "0" "02329" "SETX_000236" "g.135201966T>C" "" "" "" "SETX(NM_015046.7):c.5019A>G (p.K1673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326579T>C" "" "likely benign" "" "0000536687" "0" "30" "9" "135202120" "135202120" "subst" "7.31131E-5" "02326" "SETX_000141" "g.135202120G>A" "" "" "" "SETX(NM_015046.5):c.4865C>T (p.P1622L), SETX(NM_015046.7):c.4865C>T (p.P1622L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326733G>A" "" "likely benign" "" "0000536688" "0" "50" "9" "135202310" "135202310" "subst" "4.06967E-6" "02329" "SETX_000238" "g.135202310T>C" "" "" "" "SETX(NM_015046.7):c.4675A>G (p.K1559E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326923T>C" "" "VUS" "" "0000536689" "0" "30" "9" "135202325" "135202325" "subst" "0.00555049" "01804" "SETX_000034" "g.135202325A>C" "" "" "" "SETX(NM_001351527.2):c.4660T>G (p.C1554G), SETX(NM_015046.5):c.4660T>G (p.C1554G, p.(Cys1554Gly)), SETX(NM_015046.7):c.4660T>G (p.C1554G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326938A>C" "" "likely benign" "" "0000536690" "0" "30" "9" "135202325" "135202325" "subst" "0.00555049" "02329" "SETX_000034" "g.135202325A>C" "" "" "" "SETX(NM_001351527.2):c.4660T>G (p.C1554G), SETX(NM_015046.5):c.4660T>G (p.C1554G, p.(Cys1554Gly)), SETX(NM_015046.7):c.4660T>G (p.C1554G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326938A>C" "" "likely benign" "" "0000536691" "0" "90" "9" "135202355" "135202356" "del" "0" "02327" "SETX_000144" "g.135202355_135202356del" "" "" "" "SETX(NM_015046.7):c.4630_4631delTT (p.L1544Efs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326968_132326969del" "" "pathogenic" "" "0000536692" "0" "30" "9" "135202568" "135202568" "subst" "3.65586E-5" "02329" "SETX_000239" "g.135202568G>A" "" "" "" "SETX(NM_015046.7):c.4417C>T (p.R1473C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327181G>A" "" "likely benign" "" "0000536693" "0" "30" "9" "135202788" "135202788" "subst" "0.00048341" "01943" "SETX_000147" "g.135202788T>C" "" "" "" "SETX(NM_001351527.1):c.4197A>G (p.T1399=), SETX(NM_001351527.2):c.4197A>G (p.T1399=), SETX(NM_015046.5):c.4197A>G (p.T1399=), SETX(NM_015046.7):c.4..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327401T>C" "" "likely benign" "" "0000536694" "0" "30" "9" "135202889" "135202889" "subst" "0.000243817" "02329" "SETX_000148" "g.135202889A>G" "" "" "" "SETX(NM_015046.7):c.4096T>C (p.S1366P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327502A>G" "" "likely benign" "" "0000536695" "0" "50" "9" "135202965" "135202967" "del" "0" "01943" "SETX_000240" "g.135202965_135202967del" "" "" "" "SETX(NM_015046.5):c.4020_4022delGAA (p.K1341del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327578_132327580del" "" "VUS" "" "0000536696" "0" "30" "9" "135203159" "135203159" "subst" "0.000365503" "02329" "SETX_000241" "g.135203159G>C" "" "" "" "SETX(NM_015046.7):c.3826C>G (p.Q1276E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327772G>C" "" "likely benign" "" "0000536697" "0" "30" "9" "135203176" "135203176" "subst" "0.0012226" "01943" "SETX_000242" "g.135203176G>A" "" "" "" "SETX(NM_001351527.1):c.3809C>T (p.P1270L), SETX(NM_001351527.2):c.3809C>T (p.P1270L), SETX(NM_015046.5):c.3809C>T (p.P1270L), SETX(NM_015046.7):c.3..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327789G>A" "" "likely benign" "" "0000536698" "0" "30" "9" "135203176" "135203176" "subst" "0.0012226" "02326" "SETX_000242" "g.135203176G>A" "" "" "" "SETX(NM_001351527.1):c.3809C>T (p.P1270L), SETX(NM_001351527.2):c.3809C>T (p.P1270L), SETX(NM_015046.5):c.3809C>T (p.P1270L), SETX(NM_015046.7):c.3..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327789G>A" "" "likely benign" "" "0000536699" "0" "30" "9" "135203176" "135203176" "subst" "0.0012226" "02329" "SETX_000242" "g.135203176G>A" "" "" "" "SETX(NM_001351527.1):c.3809C>T (p.P1270L), SETX(NM_001351527.2):c.3809C>T (p.P1270L), SETX(NM_015046.5):c.3809C>T (p.P1270L), SETX(NM_015046.7):c.3..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327789G>A" "" "likely benign" "" "0000536700" "0" "10" "9" "135203322" "135203322" "subst" "0.000979579" "02330" "SETX_000243" "g.135203322C>G" "" "" "" "SETX(NM_001351527.1):c.3663G>C (p.K1221N), SETX(NM_015046.5):c.3663G>C (p.K1221N), SETX(NM_015046.7):c.3663G>C (p.K1221N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327935C>G" "" "benign" "" "0000536701" "0" "10" "9" "135203322" "135203322" "subst" "0.000979579" "01943" "SETX_000243" "g.135203322C>G" "" "" "" "SETX(NM_001351527.1):c.3663G>C (p.K1221N), SETX(NM_015046.5):c.3663G>C (p.K1221N), SETX(NM_015046.7):c.3663G>C (p.K1221N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327935C>G" "" "benign" "" "0000536702" "0" "30" "9" "135203334" "135203334" "subst" "0.000715581" "02329" "SETX_000244" "g.135203334C>A" "" "" "" "SETX(NM_015046.7):c.3651G>T (p.T1217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327947C>A" "" "likely benign" "" "0000536703" "0" "10" "9" "135203417" "135203417" "subst" "0.000747882" "01943" "SETX_000154" "g.135203417T>C" "" "" "" "SETX(NM_001351527.1):c.3568A>G (p.K1190E), SETX(NM_015046.5):c.3568A>G (p.K1190E), SETX(NM_015046.7):c.3568A>G (p.K1190E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328030T>C" "" "benign" "" "0000536704" "0" "30" "9" "135203417" "135203417" "subst" "0.000747882" "02329" "SETX_000154" "g.135203417T>C" "" "" "" "SETX(NM_001351527.1):c.3568A>G (p.K1190E), SETX(NM_015046.5):c.3568A>G (p.K1190E), SETX(NM_015046.7):c.3568A>G (p.K1190E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328030T>C" "" "likely benign" "" "0000536705" "0" "30" "9" "135203575" "135203575" "subst" "3.66533E-5" "01943" "SETX_000245" "g.135203575C>T" "" "" "" "SETX(NM_015046.5):c.3410G>A (p.G1137D), SETX(NM_015046.7):c.3410G>A (p.G1137D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328188C>T" "" "likely benign" "" "0000536706" "0" "30" "9" "135203649" "135203649" "subst" "0.000374504" "02330" "SETX_000246" "g.135203649A>G" "" "" "" "SETX(NM_001351527.2):c.3336T>C (p.A1112=), SETX(NM_015046.5):c.3336T>C (p.A1112=), SETX(NM_015046.7):c.3336T>C (p.A1112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328262A>G" "" "likely benign" "" "0000536707" "0" "30" "9" "135203649" "135203649" "subst" "0.000374504" "01943" "SETX_000246" "g.135203649A>G" "" "" "" "SETX(NM_001351527.2):c.3336T>C (p.A1112=), SETX(NM_015046.5):c.3336T>C (p.A1112=), SETX(NM_015046.7):c.3336T>C (p.A1112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328262A>G" "" "likely benign" "" "0000536708" "0" "30" "9" "135203649" "135203649" "subst" "0.000374504" "02326" "SETX_000246" "g.135203649A>G" "" "" "" "SETX(NM_001351527.2):c.3336T>C (p.A1112=), SETX(NM_015046.5):c.3336T>C (p.A1112=), SETX(NM_015046.7):c.3336T>C (p.A1112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328262A>G" "" "likely benign" "" "0000536709" "0" "30" "9" "135203649" "135203649" "subst" "0.000374504" "02329" "SETX_000246" "g.135203649A>G" "" "" "" "SETX(NM_001351527.2):c.3336T>C (p.A1112=), SETX(NM_015046.5):c.3336T>C (p.A1112=), SETX(NM_015046.7):c.3336T>C (p.A1112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328262A>G" "" "likely benign" "" "0000536710" "0" "50" "9" "135203756" "135203756" "subst" "0.001273" "01943" "SETX_000159" "g.135203756C>T" "" "" "" "SETX(NM_015046.5):c.3229G>A (p.D1077N), SETX(NM_015046.7):c.3229G>A (p.D1077N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328369C>T" "" "VUS" "" "0000536711" "0" "30" "9" "135203756" "135203756" "subst" "0.001273" "02329" "SETX_000159" "g.135203756C>T" "" "" "" "SETX(NM_015046.5):c.3229G>A (p.D1077N), SETX(NM_015046.7):c.3229G>A (p.D1077N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328369C>T" "" "likely benign" "" "0000536712" "0" "50" "9" "135203921" "135203921" "subst" "3.25283E-5" "01943" "SETX_000247" "g.135203921C>T" "" "" "" "SETX(NM_015046.5):c.3064G>A (p.D1022N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328534C>T" "" "VUS" "" "0000536713" "0" "30" "9" "135204230" "135204230" "subst" "4.48109E-5" "01943" "SETX_000248" "g.135204230C>G" "" "" "" "SETX(NM_015046.5):c.2755G>C (p.V919L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328843C>G" "" "likely benign" "" "0000536714" "0" "30" "9" "135204255" "135204255" "subst" "2.03386E-5" "02329" "SETX_000249" "g.135204255T>G" "" "" "" "SETX(NM_015046.7):c.2730A>C (p.S910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328868T>G" "" "likely benign" "" "0000536715" "0" "30" "9" "135204313" "135204313" "subst" "0.00115362" "02330" "SETX_000250" "g.135204313A>G" "" "" "" "SETX(NM_015046.5):c.2672T>C (p.V891A, p.(Val891Ala)), SETX(NM_015046.7):c.2672T>C (p.V891A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328926A>G" "" "likely benign" "" "0000536716" "0" "50" "9" "135204313" "135204313" "subst" "0.00115362" "01943" "SETX_000250" "g.135204313A>G" "" "" "" "SETX(NM_015046.5):c.2672T>C (p.V891A, p.(Val891Ala)), SETX(NM_015046.7):c.2672T>C (p.V891A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328926A>G" "" "VUS" "" "0000536717" "0" "90" "9" "135204362" "135204365" "del" "0" "02325" "SETX_000005" "g.135204362_135204365del" "" "" "" "SETX(NM_015046.7):c.2623_2626delGTTA (p.V875Ffs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328975_132328978del" "" "pathogenic" "" "0000536718" "0" "90" "9" "135204600" "135204600" "del" "0" "02329" "SETX_000251" "g.135204600del" "" "" "" "SETX(NM_001351527.2):c.2387delA (p.K796Rfs*16), SETX(NM_015046.5):c.2387delA (p.K796Rfs*16), SETX(NM_015046.7):c.2387delA (p.K796Rfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329213del" "" "pathogenic" "" "0000536719" "0" "10" "9" "135204769" "135204769" "subst" "0.000863537" "01943" "SETX_000167" "g.135204769C>T" "" "" "" "SETX(NM_015046.5):c.2216G>A (p.G739E), SETX(NM_015046.7):c.2216G>A (p.G739E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329382C>T" "" "benign" "" "0000536720" "0" "30" "9" "135204769" "135204769" "subst" "0.000863537" "02329" "SETX_000167" "g.135204769C>T" "" "" "" "SETX(NM_015046.5):c.2216G>A (p.G739E), SETX(NM_015046.7):c.2216G>A (p.G739E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329382C>T" "" "likely benign" "" "0000536721" "0" "30" "9" "135204872" "135204872" "subst" "0.000764851" "02329" "SETX_000252" "g.135204872T>G" "" "" "" "SETX(NM_001351527.1):c.2113A>C (p.I705L), SETX(NM_015046.7):c.2113A>C (p.I705L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329485T>G" "" "likely benign" "" "0000536722" "0" "30" "9" "135205284" "135205284" "subst" "1.21942E-5" "02329" "SETX_000253" "g.135205284T>C" "" "" "" "SETX(NM_015046.7):c.1701A>G (p.R567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329897T>C" "" "likely benign" "" "0000536723" "0" "50" "9" "135205288" "135205288" "subst" "0" "02327" "SETX_000254" "g.135205288A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329901A>G" "" "VUS" "" "0000536724" "0" "50" "9" "135205594" "135205594" "subst" "0.000154232" "02330" "SETX_000255" "g.135205594G>A" "" "" "" "SETX(NM_015046.7):c.1391C>T (p.S464L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132330207G>A" "" "VUS" "" "0000536725" "0" "50" "9" "135205882" "135205882" "subst" "0" "01943" "SETX_000256" "g.135205882G>C" "" "" "" "SETX(NM_015046.5):c.1103C>G (p.S368C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132330495G>C" "" "VUS" "" "0000536726" "0" "50" "9" "135206706" "135206706" "subst" "0.000211195" "02326" "SETX_000257" "g.135206706C>T" "" "" "" "SETX(NM_015046.5):c.968G>A (p.S323N), SETX(NM_015046.7):c.968G>A (p.S323N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132331319C>T" "" "VUS" "" "0000536727" "0" "30" "9" "135210039" "135210039" "subst" "8.12189E-6" "02329" "SETX_000258" "g.135210039T>C" "" "" "" "SETX(NM_015046.7):c.794A>G (p.D265G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132334652T>C" "" "likely benign" "" "0000536728" "0" "30" "9" "135211684" "135211684" "subst" "0.000154342" "01804" "SETX_000259" "g.135211684T>C" "" "" "" "SETX(NM_015046.5):c.717A>G (p.(=)), SETX(NM_015046.7):c.717A>G (p.L239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132336297T>C" "" "likely benign" "" "0000536729" "0" "30" "9" "135211684" "135211684" "subst" "0.000154342" "02329" "SETX_000259" "g.135211684T>C" "" "" "" "SETX(NM_015046.5):c.717A>G (p.(=)), SETX(NM_015046.7):c.717A>G (p.L239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132336297T>C" "" "likely benign" "" "0000536730" "0" "50" "9" "135211747" "135211747" "subst" "0.000316746" "01943" "SETX_000260" "g.135211747C>G" "" "" "" "SETX(NM_001351527.2):c.654G>C (p.K218N), SETX(NM_015046.5):c.654G>C (p.K218N), SETX(NM_015046.7):c.654G>C (p.K218N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132336360C>G" "" "VUS" "" "0000536731" "0" "30" "9" "135211747" "135211747" "subst" "0.000316746" "02329" "SETX_000260" "g.135211747C>G" "" "" "" "SETX(NM_001351527.2):c.654G>C (p.K218N), SETX(NM_015046.5):c.654G>C (p.K218N), SETX(NM_015046.7):c.654G>C (p.K218N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132336360C>G" "" "likely benign" "" "0000536732" "0" "10" "9" "135218057" "135218057" "subst" "0.0214744" "02330" "SETX_000261" "g.135218057C>T" "" "" "" "SETX(NM_015046.5):c.498+20G>A, SETX(NM_015046.7):c.498+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132342670C>T" "" "benign" "" "0000536733" "0" "10" "9" "135218057" "135218057" "subst" "0.0214744" "01943" "SETX_000261" "g.135218057C>T" "" "" "" "SETX(NM_015046.5):c.498+20G>A, SETX(NM_015046.7):c.498+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132342670C>T" "" "benign" "" "0000536734" "0" "10" "9" "135218057" "135218057" "subst" "0.0214744" "02326" "SETX_000261" "g.135218057C>T" "" "" "" "SETX(NM_015046.5):c.498+20G>A, SETX(NM_015046.7):c.498+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132342670C>T" "" "benign" "" "0000536735" "0" "10" "9" "135218057" "135218057" "subst" "0.0214744" "02329" "SETX_000261" "g.135218057C>T" "" "" "" "SETX(NM_015046.5):c.498+20G>A, SETX(NM_015046.7):c.498+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132342670C>T" "" "benign" "" "0000536736" "0" "50" "9" "135218103" "135218103" "subst" "0.00376551" "01943" "SETX_000262" "g.135218103A>C" "" "" "" "SETX(NM_015046.5):c.472T>G (p.L158V), SETX(NM_015046.7):c.472T>G (p.L158V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132342716A>C" "" "VUS" "" "0000536737" "0" "30" "9" "135218103" "135218103" "subst" "0.00376551" "02326" "SETX_000262" "g.135218103A>C" "" "" "" "SETX(NM_015046.5):c.472T>G (p.L158V), SETX(NM_015046.7):c.472T>G (p.L158V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132342716A>C" "" "likely benign" "" "0000536738" "0" "10" "9" "135218103" "135218103" "subst" "0.00376551" "02329" "SETX_000262" "g.135218103A>C" "" "" "" "SETX(NM_015046.5):c.472T>G (p.L158V), SETX(NM_015046.7):c.472T>G (p.L158V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132342716A>C" "" "benign" "" "0000536739" "0" "50" "9" "135229016" "135229016" "subst" "0" "02327" "SETX_000263" "g.135229016C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132353629C>T" "" "VUS" "" "0000611919" "0" "30" "9" "135139889" "135139889" "subst" "3.25037E-5" "02329" "SETX_000264" "g.135139889C>T" "" "" "" "SETX(NM_015046.7):c.7771G>A (p.A2591T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264502C>T" "" "likely benign" "" "0000611920" "0" "30" "9" "135152445" "135152445" "dup" "0" "01943" "SETX_000265" "g.135152445dup" "" "" "" "SETX(NM_015046.5):c.6935+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277058dup" "" "likely benign" "" "0000611921" "0" "30" "9" "135152555" "135152555" "dup" "0" "01804" "SETX_000196" "g.135152555dup" "" "" "" "SETX(NM_015046.5):c.6843-5dupT, SETX(NM_015046.5):c.6843-5dupT (p.?), SETX(NM_015046.7):c.6843-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132277168dup" "" "likely benign" "" "0000611922" "0" "30" "9" "135171269" "135171269" "subst" "2.45126E-5" "01943" "SETX_000266" "g.135171269C>T" "" "" "" "SETX(NM_015046.5):c.6096G>A (p.K2032=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132295882C>T" "" "likely benign" "" "0000611923" "0" "50" "9" "135172269" "135172269" "subst" "0.000726939" "02330" "SETX_000232" "g.135172269C>T" "" "" "" "SETX(NM_015046.5):c.5949+5G>A, SETX(NM_015046.7):c.5949+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132296882C>T" "" "VUS" "" "0000611924" "0" "30" "9" "135172436" "135172436" "subst" "1.65201E-5" "02326" "SETX_000267" "g.135172436C>T" "" "" "" "SETX(NM_015046.5):c.5787G>A (p.A1929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132297049C>T" "" "likely benign" "" "0000611925" "0" "50" "9" "135176031" "135176031" "subst" "1.2192E-5" "01943" "SETX_000269" "g.135176031C>T" "" "" "" "SETX(NM_001351527.1):c.5534G>A (p.R1845H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132300644C>T" "" "VUS" "" "0000611926" "0" "50" "9" "135201943" "135201943" "subst" "1.62524E-5" "01943" "SETX_000270" "g.135201943T>C" "" "" "" "SETX(NM_001351527.1):c.5042A>G (p.Y1681C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326556T>C" "" "VUS" "" "0000611927" "0" "30" "9" "135202003" "135202003" "subst" "0.00025591" "02329" "SETX_000140" "g.135202003G>C" "" "" "" "SETX(NM_001351527.2):c.4982C>G (p.P1661R), SETX(NM_015046.5):c.4982C>G (p.P1661R), SETX(NM_015046.7):c.4982C>G (p.P1661R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326616G>C" "" "likely benign" "" "0000611928" "0" "30" "9" "135203675" "135203675" "subst" "0.000374212" "01943" "SETX_000272" "g.135203675G>C" "" "" "" "SETX(NM_001351527.1):c.3310C>G (p.Q1104E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328288G>C" "" "likely benign" "" "0000611929" "0" "50" "9" "135204442" "135204444" "del" "0" "01943" "SETX_000274" "g.135204442_135204444del" "" "" "" "SETX(NM_001351527.1):c.2542_2544delGTT (p.V848del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329055_132329057del" "" "VUS" "" "0000611930" "0" "70" "9" "135204600" "135204600" "del" "0" "02326" "SETX_000251" "g.135204600del" "" "" "" "SETX(NM_001351527.2):c.2387delA (p.K796Rfs*16), SETX(NM_015046.5):c.2387delA (p.K796Rfs*16), SETX(NM_015046.7):c.2387delA (p.K796Rfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329213del" "" "likely pathogenic" "" "0000611931" "0" "30" "9" "135204913" "135204913" "subst" "5.30669E-5" "01943" "SETX_000275" "g.135204913T>C" "" "" "" "SETX(NM_015046.5):c.2072A>G (p.Q691R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329526T>C" "" "likely benign" "" "0000611933" "0" "50" "9" "135205327" "135205327" "subst" "0" "02330" "SETX_000277" "g.135205327G>A" "" "" "" "SETX(NM_015046.5):c.1658C>T (p.(Ser553Phe)), SETX(NM_015046.7):c.1658C>T (p.S553F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329940G>A" "" "VUS" "" "0000611934" "0" "30" "9" "135218063" "135218063" "subst" "0.000284412" "02330" "SETX_000278" "g.135218063A>G" "" "" "" "SETX(NM_015046.7):c.498+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132342676A>G" "" "likely benign" "" "0000611935" "0" "30" "9" "135221844" "135221844" "subst" "0.000733083" "02329" "SETX_000279" "g.135221844T>C" "" "" "" "SETX(NM_015046.7):c.192A>G (p.L64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132346457T>C" "" "likely benign" "" "0000611936" "0" "30" "9" "135224739" "135224739" "subst" "6.09083E-5" "01943" "SETX_000280" "g.135224739G>A" "" "" "" "SETX(NM_015046.5):c.77C>T (p.P26L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132349352G>A" "" "likely benign" "" "0000622188" "0" "10" "9" "135139755" "135139755" "subst" "0.00150245" "02330" "SETX_000176" "g.135139755G>A" "" "" "" "SETX(NM_001351527.2):c.7905C>T (p.A2635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264368G>A" "" "benign" "" "0000622189" "0" "30" "9" "135172269" "135172269" "subst" "0.000726939" "02326" "SETX_000232" "g.135172269C>T" "" "" "" "SETX(NM_015046.5):c.5949+5G>A, SETX(NM_015046.7):c.5949+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132296882C>T" "" "likely benign" "" "0000622190" "0" "30" "9" "135173632" "135173632" "subst" "4.06174E-5" "02326" "SETX_000268" "g.135173632G>A" "" "" "" "SETX(NM_015046.5):c.5616C>T (p.N1872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132298245G>A" "" "likely benign" "" "0000622191" "0" "30" "9" "135201994" "135201994" "subst" "5.68754E-5" "02329" "SETX_000271" "g.135201994G>A" "" "" "" "SETX(NM_001351527.1):c.4991C>T (p.P1664L), SETX(NM_015046.7):c.4991C>T (p.P1664L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326607G>A" "" "likely benign" "" "0000622192" "0" "50" "9" "135202373" "135202373" "subst" "0.000333401" "02330" "SETX_000145" "g.135202373G>A" "" "" "" "SETX(NM_001351527.2):c.4612C>T (p.R1538W), SETX(NM_015046.7):c.4612C>T (p.R1538W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326986G>A" "" "VUS" "" "0000622193" "0" "30" "9" "135203640" "135203640" "subst" "0.000459925" "02326" "SETX_000157" "g.135203640G>C" "" "" "" "SETX(NM_001351527.2):c.3345C>G (p.A1115=), SETX(NM_015046.5):c.3345C>G (p.A1115=), SETX(NM_015046.7):c.3345C>G (p.A1115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328253G>C" "" "likely benign" "" "0000622194" "0" "50" "9" "135204004" "135204004" "subst" "0.000497054" "02330" "SETX_000273" "g.135204004T>C" "" "" "" "SETX(NM_001351527.2):c.2981A>G (p.D994G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328617T>C" "" "VUS" "" "0000622195" "0" "50" "9" "135204600" "135204600" "del" "0" "02330" "SETX_000251" "g.135204600del" "" "" "" "SETX(NM_001351527.2):c.2387delA (p.K796Rfs*16), SETX(NM_015046.5):c.2387delA (p.K796Rfs*16), SETX(NM_015046.7):c.2387delA (p.K796Rfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329213del" "" "VUS" "" "0000652633" "1" "30" "9" "135138338" "135138338" "subst" "0" "03575" "SETX_000281" "g.135138338A>G" "18/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs72765812}" "Germline" "" "rs72765812" "0" "" "" "g.132262951A>G" "" "likely benign" "" "0000652634" "1" "30" "9" "135147182" "135147182" "subst" "0.00603941" "03575" "SETX_000192" "g.135147182C>T" "33/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs150673589}" "Germline" "" "rs150673589" "0" "" "" "g.132271795C>T" "" "likely benign" "" "0000652635" "1" "30" "9" "135202325" "135202325" "subst" "0.00555049" "03575" "SETX_000034" "g.135202325A>C" "115/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "115 heterozygous; {DB:CLININrs112089123}" "Germline" "" "rs112089123" "0" "" "" "g.132326938A>C" "" "likely benign" "" "0000652636" "1" "50" "9" "135218103" "135218103" "subst" "0.00376551" "03575" "SETX_000262" "g.135218103A>C" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; {DB:CLININrs145438764}" "Germline" "" "rs145438764" "0" "" "" "g.132342716A>C" "" "VUS" "" "0000652637" "1" "30" "9" "135224757" "135224757" "subst" "0.00928265" "03575" "SETX_000210" "g.135224757C>T" "63/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "63 heterozygous; {DB:CLININrs79740039}" "Germline" "" "rs79740039" "0" "" "" "g.132349370C>T" "" "likely benign" "" "0000656250" "0" "30" "9" "135139785" "135139785" "subst" "0.000121823" "02330" "SETX_000282" "g.135139785C>T" "" "" "" "SETX(NM_001351527.2):c.7875G>A (p.P2625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132264398C>T" "" "likely benign" "" "0000656251" "0" "50" "9" "135147101" "135147101" "subst" "0.000113757" "02330" "SETX_000283" "g.135147101T>C" "" "" "" "SETX(NM_001351527.2):c.7195A>G (p.I2399V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132271714T>C" "" "VUS" "" "0000656252" "0" "50" "9" "135147157" "135147157" "subst" "1.2183E-5" "02327" "SETX_000077" "g.135147157C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132271770C>T" "" "VUS" "" "0000656253" "0" "90" "9" "135202280" "135202281" "del" "0" "02327" "SETX_000284" "g.135202280_135202281del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132326893_132326894del" "" "pathogenic" "" "0000656254" "0" "30" "9" "135202712" "135202712" "subst" "4.46838E-5" "02329" "SETX_000285" "g.135202712T>C" "" "" "" "SETX(NM_001351527.1):c.4273A>G (p.K1425E), SETX(NM_001351527.2):c.4273A>G (p.K1425E), SETX(NM_015046.7):c.4273A>G (p.K1425E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327325T>C" "" "likely benign" "" "0000656255" "0" "30" "9" "135202895" "135202895" "subst" "4.8765E-5" "01943" "SETX_000149" "g.135202895T>C" "" "" "" "SETX(NM_001351527.1):c.4090A>G (p.R1364G), SETX(NM_015046.7):c.4090A>G (p.R1364G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132327508T>C" "" "likely benign" "" "0000656256" "0" "50" "9" "135203969" "135203969" "subst" "9.35553E-5" "02330" "SETX_000286" "g.135203969C>T" "" "" "" "SETX(NM_001351527.2):c.3016G>A (p.G1006R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132328582C>T" "" "VUS" "" "0000656257" "0" "30" "9" "135204578" "135204578" "subst" "2.04616E-5" "01943" "SETX_000287" "g.135204578T>C" "" "" "" "SETX(NM_001351527.1):c.2407A>G (p.T803A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132329191T>C" "" "likely benign" "" "0000656258" "0" "30" "9" "135206774" "135206774" "subst" "5.6863E-5" "01943" "SETX_000288" "g.135206774A>G" "" "" "" "SETX(NM_001351527.1):c.900T>C (p.L300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132331387A>G" "" "likely benign" "" "0000656259" "0" "50" "9" "135211747" "135211747" "subst" "0.000316746" "02330" "SETX_000260" "g.135211747C>G" "" "" "" "SETX(NM_001351527.2):c.654G>C (p.K218N), SETX(NM_015046.5):c.654G>C (p.K218N), SETX(NM_015046.7):c.654G>C (p.K218N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132336360C>G" "" "VUS" "" "0000667188" "0" "50" "9" "135203969" "135203969" "subst" "9.35553E-5" "01164" "SETX_000286" "g.135203969C>T" "" "" "" "" "ACMG grading: PVS1,PM2,PM3,PP1; individuum not yet affected by BRCA2-associated cancers at age 33y, postitve family history of BC; Wooster et al. 1995. Nature 378: 789; Caputo et al. 2012. Nucl Acids Res 40: 992; de Juan et al. 2015. Fam Cancer 14: 505; Howlett et al. 2002. Science 297: 606; Torres et al. 2017. Sci Rep 7: 4713" "Germline" "" "rs141266068" "0" "" "" "g.132328582C>T" "" "VUS" "ACMG" "0000670046" "3" "30" "9" "135202325" "135202325" "subst" "0.00555049" "03575" "SETX_000034" "g.135202325A>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs112089123}" "Germline" "" "rs112089123" "0" "" "" "g.132326938A>C" "" "likely benign" "" "0000670047" "3" "30" "9" "135224757" "135224757" "subst" "0.00928265" "03575" "SETX_000210" "g.135224757C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs79740039}" "Germline" "" "rs79740039" "0" "" "" "g.132349370C>T" "" "likely benign" "" "0000678566" "0" "50" "9" "135163634" "135163634" "subst" "2.84386E-5" "01943" "SETX_000289" "g.135163634G>A" "" "" "" "SETX(NM_001351527.1):c.6313C>T (p.R2105W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678567" "0" "70" "9" "135176014" "135176017" "del" "0" "02327" "SETX_000290" "g.135176014_135176017del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678568" "0" "50" "9" "135201994" "135201994" "subst" "5.68754E-5" "01943" "SETX_000271" "g.135201994G>A" "" "" "" "SETX(NM_001351527.1):c.4991C>T (p.P1664L), SETX(NM_015046.7):c.4991C>T (p.P1664L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678569" "0" "50" "9" "135204172" "135204172" "subst" "0" "02325" "SETX_000291" "g.135204172A>G" "" "" "" "SETX(NM_001351527.2):c.2813T>C (p.L938S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678570" "0" "30" "9" "135204861" "135204861" "subst" "0.000216898" "01943" "SETX_000292" "g.135204861A>G" "" "" "" "SETX(NM_001351527.1):c.2124T>C (p.S708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690440" "0" "30" "9" "135139746" "135139746" "subst" "0.000572575" "01943" "SETX_000125" "g.135139746G>A" "" "" "" "SETX(NM_001351527.1):c.7914C>T (p.F2638=), SETX(NM_015046.5):c.7914C>T (p.F2638=), SETX(NM_015046.7):c.7914C>T (p.F2638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690441" "0" "50" "9" "135144828" "135144834" "dup" "0" "01943" "SETX_000293" "g.135144828_135144834dup" "" "" "" "SETX(NM_001351528.1):c.7330_7336dupCCTTTTT (p.F2446Sfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690442" "0" "30" "9" "135145105" "135145105" "dup" "0" "02330" "SETX_000179" "g.135145105dup" "" "" "" "SETX(NM_001351527.1):c.7200-10dupT, SETX(NM_001351527.2):c.7200-10dupT, SETX(NM_015046.5):c.7200-10dupT, SETX(NM_015046.7):c.7200-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690443" "0" "30" "9" "135203176" "135203176" "subst" "0.0012226" "02330" "SETX_000242" "g.135203176G>A" "" "" "" "SETX(NM_001351527.1):c.3809C>T (p.P1270L), SETX(NM_001351527.2):c.3809C>T (p.P1270L), SETX(NM_015046.5):c.3809C>T (p.P1270L), SETX(NM_015046.7):c.3..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722321" "0" "30" "9" "135144795" "135144795" "subst" "0" "01943" "SETX_000294" "g.135144795G>A" "" "" "" "SETX(NM_001351528.1):c.7369C>T (p.L2457F), SETX(NM_001351528.2):c.7369C>T (p.L2457F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722322" "0" "50" "9" "135163966" "135163966" "subst" "4.06355E-6" "02329" "SETX_000230" "g.135163966C>G" "" "" "" "SETX(NM_015046.7):c.6179G>C (p.S2060T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722323" "0" "30" "9" "135187261" "135187261" "subst" "0" "02329" "SETX_000295" "g.135187261G>C" "" "" "" "SETX(NM_015046.7):c.5275-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722324" "0" "30" "9" "135201714" "135201714" "subst" "0.00030472" "02330" "SETX_000139" "g.135201714T>C" "" "" "" "SETX(NM_001351527.2):c.5271A>G (p.E1757=), SETX(NM_015046.5):c.5271A>G (p.E1757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722325" "0" "30" "9" "135201765" "135201765" "subst" "4.06349E-6" "01943" "SETX_000296" "g.135201765A>G" "" "" "" "SETX(NM_001351527.1):c.5220T>C (p.Y1740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722326" "0" "30" "9" "135202712" "135202712" "subst" "4.46838E-5" "01943" "SETX_000285" "g.135202712T>C" "" "" "" "SETX(NM_001351527.1):c.4273A>G (p.K1425E), SETX(NM_001351527.2):c.4273A>G (p.K1425E), SETX(NM_015046.7):c.4273A>G (p.K1425E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722327" "0" "50" "9" "135203322" "135203324" "del" "0" "02325" "SETX_000297" "g.135203322_135203324del" "" "" "" "SETX(NM_001351527.1):c.3664_3666delAAG (p.K1222del), SETX(NM_015046.7):c.3664_3666del (p.(Lys1222del)), SETX(NM_015046.7):c.3664_3666delAAG (p.K12...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722328" "0" "30" "9" "135203575" "135203575" "subst" "3.66533E-5" "02329" "SETX_000245" "g.135203575C>T" "" "" "" "SETX(NM_015046.5):c.3410G>A (p.G1137D), SETX(NM_015046.7):c.3410G>A (p.G1137D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722329" "0" "30" "9" "135203664" "135203664" "subst" "4.0699E-6" "01943" "SETX_000158" "g.135203664C>T" "" "" "" "SETX(NM_001351527.1):c.3321G>A (p.E1107=), SETX(NM_015046.7):c.3321G>A (p.E1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722330" "0" "50" "9" "135203687" "135203687" "subst" "1.22002E-5" "02330" "SETX_000298" "g.135203687T>C" "" "" "" "SETX(NM_001351527.2):c.3298A>G (p.N1100D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722331" "0" "10" "9" "135203803" "135203803" "subst" "0.00359136" "02330" "SETX_000160" "g.135203803G>A" "" "" "" "SETX(NM_001351527.2):c.3182C>T (p.P1061L), SETX(NM_015046.7):c.3182C>T (p.P1061L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722332" "0" "50" "9" "135204977" "135204979" "del" "0" "02329" "SETX_000276" "g.135204977_135204979del" "" "" "" "SETX(NM_015046.7):c.2007_2009delTGA (p.N669_E670delinsK)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722333" "0" "30" "9" "135205758" "135205758" "subst" "2.84433E-5" "01943" "SETX_000299" "g.135205758T>C" "" "" "" "SETX(NM_001351527.1):c.1227A>G (p.L409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722334" "0" "30" "9" "135206511" "135206511" "subst" "1.62637E-5" "02329" "SETX_000300" "g.135206511C>T" "" "" "" "SETX(NM_015046.7):c.1026G>A (p.P342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722335" "0" "30" "9" "135224735" "135224735" "subst" "0.00014212" "02329" "SETX_000301" "g.135224735G>A" "" "" "" "SETX(NM_015046.7):c.81C>T (p.S27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000764191" "0" "70" "9" "135172398" "135172398" "subst" "1.62631E-5" "01164" "SETX_000103" "g.135172398A>G" "" "PMID: 30363866; PMID: 27549087; PMID: 27528516" "" "" "ACMG: PS4_MOD, PM3, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000764192" "0" "50" "9" "135201934" "135201934" "subst" "0.000130016" "01164" "SETX_000235" "g.135201934G>C" "" "" "" "" "ACMG: PM2_SUP" "Germline" "?" "rs140116005" "" "" "" "" "" "VUS" "ACMG" "0000787024" "1" "70" "9" "135211899" "135211899" "subst" "8.13015E-6" "00006" "SETX_000308" "g.135211899G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.132336512G>A" "" "likely pathogenic" "" "0000787026" "3" "70" "9" "135211682" "135211682" "subst" "0" "00006" "SETX_000307" "g.135211682C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.132336295C>T" "" "likely pathogenic" "" "0000787027" "0" "90" "9" "135172296" "135172296" "subst" "1.62442E-5" "00006" "SETX_000057" "g.135172296A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.132296909A>C" "" "pathogenic" "" "0000787174" "3" "50" "9" "135171336" "135171336" "subst" "1.21822E-5" "00006" "SETX_000060" "g.135171336T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs759806045" "0" "" "" "g.132295949T>C" "" "VUS" "" "0000787392" "0" "50" "9" "135203638" "135203638" "subst" "4.06908E-6" "00006" "SETX_000306" "g.135203638T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs148550755" "0" "" "" "g.132328251T>C" "" "VUS" "" "0000787393" "3" "50" "9" "135201883" "135201883" "subst" "0" "00006" "SETX_000305" "g.135201883A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs139309754" "0" "" "" "g.132326496A>G" "" "VUS" "" "0000787394" "1" "50" "9" "135158667" "135158667" "subst" "0" "00006" "SETX_000303" "g.135158667C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.132283280C>T" "" "VUS" "" "0000787522" "2" "90" "9" "135176090" "135176090" "dup" "0" "00000" "SETX_000304" "g.135176090dup" "" "0" "" "c.5475dupA" "" "Germline" "" "" "0" "" "" "g.132300703dup" "" "pathogenic" "" "0000787598" "3" "50" "9" "135205481" "135205481" "subst" "0.000536363" "00000" "SETX_000171" "g.135205481G>A" "" "0" "" "" "" "Germline" "" "rs534723946" "0" "" "" "g.132330094G>A" "{CV-RCV:000143813.1}" "VUS" "" "0000787611" "2" "50" "9" "135140299" "135140299" "subst" "0" "00000" "SETX_000302" "g.135140299T>A" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.132264912T>A" "" "VUS" "" "0000803922" "0" "70" "9" "135173567" "135173568" "del" "0" "01943" "SETX_000309" "g.135173567_135173568del" "" "" "" "SETX(NM_001351527.1):c.5683_5684delCT (p.L1895Vfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803923" "0" "10" "9" "135202325" "135202325" "subst" "0.00555049" "02330" "SETX_000034" "g.135202325A>C" "" "" "" "SETX(NM_001351527.2):c.4660T>G (p.C1554G), SETX(NM_015046.5):c.4660T>G (p.C1554G, p.(Cys1554Gly)), SETX(NM_015046.7):c.4660T>G (p.C1554G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803924" "0" "30" "9" "135203926" "135203928" "dup" "0" "02330" "SETX_000310" "g.135203926_135203928dup" "" "" "" "SETX(NM_015046.7):c.3072_3074dupTGA (p.D1024dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803925" "0" "30" "9" "135204235" "135204235" "subst" "9.76443E-5" "01943" "SETX_000311" "g.135204235A>G" "" "" "" "SETX(NM_001351527.1):c.2750T>C (p.M917T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803926" "0" "30" "9" "135204483" "135204483" "subst" "7.44836E-5" "02330" "SETX_000163" "g.135204483T>C" "" "" "" "SETX(NM_001351527.2):c.2502A>G (p.G834=), SETX(NM_015046.5):c.2502A>G (p.G834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803927" "0" "90" "9" "135204597" "135204600" "del" "0" "02325" "SETX_000024" "g.135204597_135204600del" "" "" "" "SETX(NM_015046.7):c.2387_2390delAGAA (p.K796Sfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803928" "0" "50" "9" "135204703" "135204703" "subst" "0.000122097" "01943" "SETX_000312" "g.135204703G>A" "" "" "" "SETX(NM_001351527.1):c.2282C>T (p.S761L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803929" "0" "30" "9" "135204884" "135204884" "subst" "1.63575E-5" "01943" "SETX_000313" "g.135204884C>T" "" "" "" "SETX(NM_001351527.1):c.2101G>A (p.A701T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803930" "0" "30" "9" "135205359" "135205359" "subst" "7.72188E-5" "01943" "SETX_000314" "g.135205359G>A" "" "" "" "SETX(NM_001351527.1):c.1626C>T (p.L542=), SETX(NM_001351527.2):c.1626C>T (p.L542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803931" "0" "50" "9" "135211721" "135211721" "subst" "0" "02327" "SETX_000315" "g.135211721T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000822511" "0" "70" "9" "135140330" "135140330" "subst" "1.22248E-5" "01164" "SETX_000082" "g.135140330G>A" "" "PMID: 19569000" "" "" "ACMG: PM3, PM5, PS4_SUP, PM2_SUP, PP3" "Germline" "?" "rs372535542" "" "" "" "" "VCV000632035.2" "likely pathogenic (recessive)" "ACMG" "0000822512" "0" "70" "9" "135206680" "135206680" "subst" "4.06197E-6" "01164" "SETX_000007" "g.135206680G>A" "" "PMID: 14770181, 24814856" "" "" "ACMG: PM1, PM3, PS4_SUP, PM2_SUP, PP1" "Germline" "?" "rs29001665" "" "" "" "" "VCV000002288.2" "likely pathogenic (recessive)" "ACMG" "0000831661" "3" "90" "9" "135203482" "135203482" "del" "0" "00435" "SETX_000316" "g.135203482del" "" "" "" "g.31891delC" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841448" "3" "90" "9" "135203482" "135203482" "del" "0" "00435" "SETX_000316" "g.135203482del" "" "" "" "3503delC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841449" "3" "90" "9" "135203783" "135203784" "del" "0" "00435" "SETX_000318" "g.135203783_135203784del" "" "" "" "3204_3205delGA" "" "Germline" "yes" "" "0" "" "" "g.132328396_132328397del" "" "pathogenic (recessive)" "" "0000852149" "0" "10" "9" "135139936" "135139936" "subst" "0.000702681" "02326" "SETX_000218" "g.135139936G>A" "" "" "" "SETX(NM_001351527.1):c.7724C>T (p.P2575L), SETX(NM_001351527.2):c.7724C>T (p.P2575L), SETX(NM_015046.5):c.7724C>T (p.P2575L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852150" "0" "30" "9" "135173458" "135173458" "subst" "0.00010563" "01943" "SETX_000320" "g.135173458A>G" "" "" "" "SETX(NM_001351527.1):c.5781+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852151" "0" "30" "9" "135202788" "135202788" "subst" "0.00048341" "02330" "SETX_000147" "g.135202788T>C" "" "" "" "SETX(NM_001351527.1):c.4197A>G (p.T1399=), SETX(NM_001351527.2):c.4197A>G (p.T1399=), SETX(NM_015046.5):c.4197A>G (p.T1399=), SETX(NM_015046.7):c.4..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852152" "0" "10" "9" "135203322" "135203322" "subst" "0.000979579" "02326" "SETX_000243" "g.135203322C>G" "" "" "" "SETX(NM_001351527.1):c.3663G>C (p.K1221N), SETX(NM_015046.5):c.3663G>C (p.K1221N), SETX(NM_015046.7):c.3663G>C (p.K1221N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861429" "0" "30" "9" "135139846" "135139846" "subst" "0.000211423" "01943" "SETX_000217" "g.135139846C>T" "" "" "" "SETX(NM_001351527.1):c.7814G>A (p.R2605Q), SETX(NM_015046.7):c.7814G>A (p.R2605Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861430" "0" "30" "9" "135144795" "135144795" "subst" "0" "02330" "SETX_000294" "g.135144795G>A" "" "" "" "SETX(NM_001351528.1):c.7369C>T (p.L2457F), SETX(NM_001351528.2):c.7369C>T (p.L2457F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861431" "0" "30" "9" "135158634" "135158634" "subst" "8.12321E-6" "02329" "SETX_000319" "g.135158634G>C" "" "" "" "SETX(NM_001351527.2):c.6546+17C>G, SETX(NM_015046.7):c.6546+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861432" "0" "30" "9" "135201911" "135201911" "subst" "3.65595E-5" "01943" "SETX_000321" "g.135201911A>G" "" "" "" "SETX(NM_001351527.1):c.5074T>C (p.L1692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861433" "0" "50" "9" "135203322" "135203324" "del" "0" "01943" "SETX_000297" "g.135203322_135203324del" "" "" "" "SETX(NM_001351527.1):c.3664_3666delAAG (p.K1222del), SETX(NM_015046.7):c.3664_3666del (p.(Lys1222del)), SETX(NM_015046.7):c.3664_3666delAAG (p.K12...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861434" "0" "30" "9" "135203640" "135203640" "subst" "0.000459925" "02330" "SETX_000157" "g.135203640G>C" "" "" "" "SETX(NM_001351527.2):c.3345C>G (p.A1115=), SETX(NM_015046.5):c.3345C>G (p.A1115=), SETX(NM_015046.7):c.3345C>G (p.A1115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861435" "0" "50" "9" "135205327" "135205327" "subst" "0" "01804" "SETX_000277" "g.135205327G>A" "" "" "" "SETX(NM_015046.5):c.1658C>T (p.(Ser553Phe)), SETX(NM_015046.7):c.1658C>T (p.S553F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873643" "0" "70" "9" "135147182" "135147182" "subst" "0.00603941" "00000" "SETX_000192" "g.135147182C>T" "243" "{PMID:Sun 2018:30076350}" "" "SETX(NM_015046.5):c.7114G>A(p.D2372N)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.132271795C>T" "" "likely pathogenic" "" "0000888664" "0" "50" "9" "135139721" "135139721" "subst" "0" "02330" "SETX_000322" "g.135139721C>A" "" "" "" "SETX(NM_001351527.2):c.7939G>T (p.G2647C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888665" "0" "50" "9" "135150711" "135150713" "del" "0" "02330" "SETX_000323" "g.135150711_135150713del" "" "" "" "SETX(NM_001351527.2):c.7034_7036delTAA (p.I2345del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888666" "0" "90" "9" "135158707" "135158707" "subst" "1.21822E-5" "02325" "SETX_000324" "g.135158707C>A" "" "" "" "SETX(NM_015046.7):c.6490G>T (p.E2164*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888667" "0" "50" "9" "135202712" "135202712" "subst" "4.46838E-5" "02330" "SETX_000285" "g.135202712T>C" "" "" "" "SETX(NM_001351527.1):c.4273A>G (p.K1425E), SETX(NM_001351527.2):c.4273A>G (p.K1425E), SETX(NM_015046.7):c.4273A>G (p.K1425E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888668" "0" "50" "9" "135202897" "135202897" "subst" "1.62559E-5" "02330" "SETX_000325" "g.135202897C>T" "" "" "" "SETX(NM_001351527.2):c.4088G>A (p.R1363Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888669" "0" "90" "9" "135202911" "135202912" "del" "0" "02330" "SETX_000326" "g.135202911_135202912del" "" "" "" "SETX(NM_001351527.2):c.4075_4076delCA (p.Q1359Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888670" "0" "50" "9" "135203652" "135203652" "subst" "8.13974E-6" "02330" "SETX_000327" "g.135203652C>G" "" "" "" "SETX(NM_001351527.2):c.3333G>C (p.L1111F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888671" "0" "50" "9" "135204982" "135204982" "subst" "3.25706E-5" "02330" "SETX_000328" "g.135204982T>C" "" "" "" "SETX(NM_001351527.2):c.2003A>G (p.N668S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888672" "0" "30" "9" "135205359" "135205359" "subst" "7.72188E-5" "02330" "SETX_000314" "g.135205359G>A" "" "" "" "SETX(NM_001351527.1):c.1626C>T (p.L542=), SETX(NM_001351527.2):c.1626C>T (p.L542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913095" "0" "50" "9" "135139790" "135139790" "subst" "0.000154305" "02330" "SETX_000127" "g.135139790C>A" "" "" "" "SETX(NM_001351527.2):c.7870G>T (p.D2624Y), SETX(NM_015046.5):c.7870G>T (p.D2624Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913096" "0" "50" "9" "135202003" "135202003" "subst" "0.00025591" "02330" "SETX_000140" "g.135202003G>C" "" "" "" "SETX(NM_001351527.2):c.4982C>G (p.P1661R), SETX(NM_015046.5):c.4982C>G (p.P1661R), SETX(NM_015046.7):c.4982C>G (p.P1661R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913097" "0" "30" "9" "135204872" "135204872" "subst" "0.000764851" "02326" "SETX_000252" "g.135204872T>G" "" "" "" "SETX(NM_001351527.1):c.2113A>C (p.I705L), SETX(NM_015046.7):c.2113A>C (p.I705L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913098" "0" "30" "9" "135218103" "135218103" "subst" "0.00376551" "02330" "SETX_000262" "g.135218103A>C" "" "" "" "SETX(NM_015046.5):c.472T>G (p.L158V), SETX(NM_015046.7):c.472T>G (p.L158V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924972" "0" "30" "9" "135145105" "135145105" "dup" "0" "02326" "SETX_000179" "g.135145105dup" "" "" "" "SETX(NM_001351527.1):c.7200-10dupT, SETX(NM_001351527.2):c.7200-10dupT, SETX(NM_015046.5):c.7200-10dupT, SETX(NM_015046.7):c.7200-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924973" "0" "50" "9" "135171367" "135171367" "subst" "0.000227396" "02326" "SETX_000329" "g.135171367G>C" "" "" "" "SETX(NM_001351527.1):c.5998C>G (p.Q2000E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924974" "0" "50" "9" "135204294" "135204294" "subst" "2.03537E-5" "02329" "SETX_000330" "g.135204294G>C" "" "" "" "SETX(NM_001351527.2):c.2691C>G (p.I897M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924975" "0" "50" "9" "135206706" "135206706" "subst" "0.000211195" "02325" "SETX_000257" "g.135206706C>T" "" "" "" "SETX(NM_015046.5):c.968G>A (p.S323N), SETX(NM_015046.7):c.968G>A (p.S323N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924976" "0" "70" "9" "135211903" "135211903" "subst" "0" "02326" "SETX_000331" "g.135211903C>G" "" "" "" "SETX(NM_001351527.1):c.499-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929542" "0" "30" "9" "135205764" "135205764" "subst" "4.87563E-5" "02330" "SETX_000332" "g.135205764T>C" "" "" "" "SETX(NM_015046.7):c.1221A>G (p.T407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946864" "3" "90" "9" "135187210" "135187213" "del" "0" "00006" "SETX_000035" "g.135187210_135187213del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP4" "Germline" "yes" "rs750959420" "0" "" "" "g.132311823_132311826del" "" "pathogenic (recessive)" "" "0000946865" "3" "90" "9" "135187210" "135187213" "del" "0" "00006" "SETX_000035" "g.135187210_135187213del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP4" "Germline" "yes" "rs750959420" "0" "" "" "g.132311823_132311826del" "" "pathogenic (recessive)" "" "0000946866" "3" "90" "9" "135187210" "135187213" "del" "0" "00006" "SETX_000035" "g.135187210_135187213del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP4" "Germline" "yes" "rs750959420" "0" "" "" "g.132311823_132311826del" "" "pathogenic (recessive)" "" "0000949206" "0" "50" "9" "135202240" "135202240" "subst" "4.06349E-6" "02325" "SETX_000333" "g.135202240G>A" "" "" "" "SETX(NM_015046.7):c.4745C>T (p.P1582L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949207" "0" "50" "9" "135202552" "135202552" "subst" "0.000264056" "02330" "SETX_000334" "g.135202552G>T" "" "" "" "SETX(NM_001351527.2):c.4433C>A (p.A1478E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965221" "0" "50" "9" "135203752" "135203752" "subst" "0" "02329" "SETX_000335" "g.135203752G>A" "" "" "" "SETX(NM_001351527.2):c.3233C>T (p.S1078F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978455" "0" "30" "9" "135164037" "135164037" "subst" "0.000717132" "02326" "SETX_000231" "g.135164037T>C" "" "" "" "SETX(NM_001351527.1):c.6108A>G (p.G2036=), SETX(NM_015046.5):c.6108A>G (p.G2036=), SETX(NM_015046.7):c.6108A>G (p.G2036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978456" "0" "30" "9" "135202788" "135202788" "subst" "0.00048341" "02326" "SETX_000147" "g.135202788T>C" "" "" "" "SETX(NM_001351527.1):c.4197A>G (p.T1399=), SETX(NM_001351527.2):c.4197A>G (p.T1399=), SETX(NM_015046.5):c.4197A>G (p.T1399=), SETX(NM_015046.7):c.4..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978457" "0" "30" "9" "135203417" "135203417" "subst" "0.000747882" "02326" "SETX_000154" "g.135203417T>C" "" "" "" "SETX(NM_001351527.1):c.3568A>G (p.K1190E), SETX(NM_015046.5):c.3568A>G (p.K1190E), SETX(NM_015046.7):c.3568A>G (p.K1190E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987762" "10" "90" "9" "135204008" "135204009" "del" "0" "03544" "SETX_000336" "g.135204008_135204009del" "" "" "" "" "found in a compound heterozygous state with a deletion of exons 7-10 in trans" "Germline" "yes" "" "0" "" "" "g.132328621_132328622del" "" "likely pathogenic" "ACMG" "0000987851" "20" "90" "9" "135201710" "135210115" "del" "0" "03544" "SETX_000337" "g.(135187244_135201710)_(135210115_135211682)del" "" "" "" "del ex7-10" "" "Germline" "" "" "0" "" "" "g.(132311857_132326323)_(132334728_132336295)del" "" "pathogenic (recessive)" "" "0000997567" "0" "50" "9" "135140243" "135140243" "subst" "4.46769E-5" "01804" "SETX_000338" "g.135140243G>C" "" "" "" "SETX(NM_015046.5):c.7417C>G (p.(Leu2473Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997568" "0" "30" "9" "135150636" "135150636" "subst" "4.87527E-5" "01804" "SETX_000339" "g.135150636G>A" "" "" "" "SETX(NM_015046.5):c.7100+7C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997569" "0" "30" "9" "135158634" "135158634" "subst" "8.12321E-6" "02330" "SETX_000319" "g.135158634G>C" "" "" "" "SETX(NM_001351527.2):c.6546+17C>G, SETX(NM_015046.7):c.6546+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997570" "0" "30" "9" "135163979" "135163979" "subst" "8.12678E-6" "01804" "SETX_000131" "g.135163979C>T" "" "" "" "SETX(NM_015046.5):c.6166G>A (p.V2056I, p.(Val2056Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997571" "0" "30" "9" "135203926" "135203928" "del" "0" "02330" "SETX_000340" "g.135203926_135203928del" "" "" "" "SETX(NM_001351527.2):c.3072_3074delTGA (p.D1024del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997572" "0" "30" "9" "135204313" "135204313" "subst" "0.00115362" "01804" "SETX_000250" "g.135204313A>G" "" "" "" "SETX(NM_015046.5):c.2672T>C (p.V891A, p.(Val891Ala)), SETX(NM_015046.7):c.2672T>C (p.V891A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997573" "0" "50" "9" "135206778" "135206778" "subst" "0" "02326" "SETX_000341" "g.135206778C>A" "" "" "" "SETX(NM_001351527.1):c.896G>T (p.R299L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997574" "0" "30" "9" "135211910" "135211910" "subst" "0" "02330" "SETX_000342" "g.135211910C>A" "" "" "" "SETX(NM_001351527.2):c.499-8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007032" "0" "90" "9" "135171336" "135171336" "subst" "1.21822E-5" "03779" "SETX_000060" "g.135171336T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs759806045" "0" "" "" "" "" "pathogenic" "" "0001011909" "1" "90" "9" "135205122" "135205129" "del" "0" "00006" "SETX_000344" "g.135205122_135205129del" "" "{PMID:Salinas 2020:33084218}" "" "NM_001351527.1:c.1856_1863del" "" "Germline" "" "" "0" "" "" "g.132329735_132329742del" "SUB7801076" "pathogenic (recessive)" "" "0001011910" "1" "90" "9" "135147142" "135147142" "subst" "0" "00006" "SETX_000343" "g.135147142A>C" "" "{PMID:Salinas 2020:33084218}" "" "NM_001351527.1:c.7154T>G" "" "Germline" "" "" "0" "" "" "g.132271755A>C" "SUB7801118" "pathogenic (recessive)" "" "0001011993" "2" "90" "9" "135224804" "135224806" "del" "0" "00006" "SETX_000345" "g.135224804_135224806del" "" "{PMID:Salinas 2020:33084218}" "" "NM_001351527.1:c.15_17delTTG" "" "Germline" "" "" "0" "" "" "g.132349417_132349419del" "SUB7801092" "pathogenic (recessive)" "" "0001011994" "2" "90" "9" "135224804" "135224806" "del" "0" "00006" "SETX_000345" "g.135224804_135224806del" "" "{PMID:Salinas 2020:33084218}" "" "NM_001351527.1:c.15_17delTTG" "" "Germline" "" "" "0" "" "" "g.132349417_132349419del" "SUB7801092" "pathogenic (recessive)" "" "0001014502" "0" "10" "9" "135152554" "135152555" "dup" "0" "02330" "SETX_000225" "g.135152554_135152555dup" "" "" "" "SETX(NM_001351527.2):c.6843-6_6843-5dupTT, SETX(NM_015046.7):c.6843-6_6843-5dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014503" "0" "70" "9" "135205126" "135205130" "del" "0" "02326" "SETX_000346" "g.135205126_135205130del" "" "" "" "SETX(NM_001351527.1):c.1857_1861delTAATA (p.Y619*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014504" "0" "50" "9" "135211769" "135211769" "subst" "8.12222E-6" "02329" "SETX_000347" "g.135211769T>C" "" "" "" "SETX(NM_001351527.2):c.632A>G (p.Y211C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017139" "0" "90" "9" "135201855" "135201855" "subst" "0" "03779" "SETX_000348" "g.135201855A>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs768582274" "0" "" "" "" "" "pathogenic" "" "0001037248" "0" "50" "9" "135203080" "135203080" "subst" "4.06273E-6" "02326" "SETX_000349" "g.135203080C>T" "" "" "" "SETX(NM_001351527.1):c.3905G>A (p.R1302Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037249" "0" "50" "9" "135203322" "135203324" "del" "0" "01804" "SETX_000297" "g.135203322_135203324del" "" "" "" "SETX(NM_001351527.1):c.3664_3666delAAG (p.K1222del), SETX(NM_015046.7):c.3664_3666del (p.(Lys1222del)), SETX(NM_015046.7):c.3664_3666delAAG (p.K12...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SETX ## Count = 585 "{{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}}" "0000064239" "00018758" "10" "6936" "-27" "6936" "-27" "c.6936-27T>C" "r.(=)" "p.(=)" "22i" "0000064240" "00018758" "10" "6935" "8" "6935" "8" "c.6935+8T>C" "r.(=)" "p.(=)" "22i" "0000064241" "00018758" "50" "6654" "65" "6654" "65" "c.6654+65del" "r.(=)" "p.(=)" "20i" "0000064242" "00018758" "10" "6655" "-24" "6655" "-24" "c.6655-24G>A" "r.(=)" "p.(=)" "20i" "0000064243" "00018758" "10" "5811" "0" "5811" "0" "c.5811T>C" "r.(=)" "p.(=)" "14" "0000064244" "00018758" "10" "5563" "0" "5563" "0" "c.5563A>G" "r.(?)" "p.(Thr1855Ala)" "13" "0000064245" "00018758" "10" "5549" "-59" "5549" "-59" "c.5549-59C>A" "r.(=)" "p.(=)" "12i" "0000064246" "00018758" "10" "-115" "204" "-115" "204" "c.-115+204C>T" "r.(=)" "p.(=)" "1i" "0000064247" "00018758" "10" "5374" "16" "5374" "16" "c.5374+16C>T" "r.(?)" "p.(=)" "11i" "0000064248" "00018758" "10" "7834" "0" "7834" "0" "c.7834A>G" "r.(=)" "p.(Ser2612Gly)" "26" "0000064249" "00018758" "10" "5949" "111" "5949" "111" "c.5949+111A>G" "r.(=)" "p.(=)" "14i" "0000064250" "00018758" "10" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "10" "0000064251" "00018758" "10" "3576" "0" "3576" "0" "c.3576T>G" "r.(?)" "p.(Asp1192Glu)" "10" "0000064252" "00018758" "10" "3147" "0" "3147" "0" "c.3147C>T" "r.(=)" "p.(=)" "10" "0000064253" "00018758" "10" "1077" "0" "1077" "0" "c.1077T>C" "r.(=)" "p.(=)" "9" "0000064254" "00018758" "10" "4156" "0" "4156" "0" "c.4156A>G" "r.(?)" "p.(Ile1386Val)" "10" "0000064255" "00018758" "10" "718" "72" "718" "73" "c.718+72_718+73del" "r.(=)" "p.(=)" "6i" "0000064256" "00018758" "10" "498" "30" "498" "30" "c.498+30T>C" "r.(=)" "p.(=)" "5i" "0000064257" "00018758" "50" "5781" "12" "5781" "12" "c.5781+12dup" "r.(=)" "p.(=)" "13i" "0000064258" "00018758" "10" "388" "51" "388" "51" "c.388+51C>T" "r.(=)" "p.(=)" "4i" "0000064259" "00018758" "50" "5275" "-43" "5275" "-43" "c.5275-43T>C" "r.(=)" "p.(=)" "10i" "0000064260" "00018758" "10" "-115" "82" "-115" "82" "c.-115+82G>A" "r.(=)" "p.(=)" "1i" "0000064261" "00018758" "10" "388" "51" "388" "51" "c.388+51C>T" "r.(?)" "p.(=)" "4i" "0000064262" "00018758" "10" "389" "-157" "389" "-157" "c.389-157T>C" "r.(=)" "p.(=)" "4i" "0000064263" "00018758" "10" "7640" "0" "7640" "0" "c.7640T>C" "r.(?)" "p.(Ile2547Thr)" "26" "0000064264" "00018758" "10" "6936" "-51" "6936" "-51" "c.6936-51G>A" "r.(=)" "p.(=)" "22i" "0000064265" "00018758" "50" "5130" "0" "5130" "0" "c.5130T>C" "r.(=)" "p.(=)" "10" "0000064266" "00018758" "90" "2975" "0" "2975" "0" "c.2975A>G" "r.(?)" "p.(Lys992Arg)" "10" "0000064267" "00018758" "10" "6507" "0" "6507" "0" "c.6507G>A" "r.(=)" "p.(=)" "19" "0000064268" "00018758" "50" "6209" "-33" "6209" "-33" "c.6209-33A>G" "r.(=)" "p.(=)" "16i" "0000064269" "00018758" "10" "6546" "32" "6546" "32" "c.6546+32T>A" "r.(=)" "p.(=)" "19i" "0000064270" "00018758" "10" "6655" "-29" "6655" "-29" "c.6655-29A>G" "r.(=)" "p.(=)" "20i" "0000064271" "00018758" "10" "7759" "0" "7759" "0" "c.7759A>G" "r.(=)" "p.(Ile2587Val)" "26" "0000064272" "00018758" "10" "389" "-142" "389" "-142" "c.389-142C>A" "r.(=)" "p.(=)" "4i" "0000064273" "00018758" "10" "7100" "27" "7100" "27" "c.7100+27A>G" "r.(=)" "p.(=)" "23i" "0000116889" "00018758" "90" "6547" "-1" "6547" "-1" "c.6547-1G>C" "r.spl" "p.?" "19i" "0000116891" "00018758" "90" "5308" "0" "5311" "0" "c.5308_5311del" "r.(?)" "p.(Glu1770Ilefs*15)" "11" "0000116892" "00018758" "90" "7331" "0" "7331" "0" "c.7331G>A" "r.(?)" "p.(Arg2444His)" "26" "0000116893" "00018758" "90" "6834" "0" "6839" "0" "c.6834_6839del" "r.(?)" "p.(Lys2278_Thr2279del)" "21" "0000116896" "00018758" "90" "3330" "0" "3333" "0" "c.3330_3333del" "r.(?)" "p.(Cys1110Trpfs*4)" "10" "0000116902" "00018758" "90" "498" "2992" "1432" "0" "c.498+2992_1432del" "r.spl?" "p.?" "5i_10" "0000116903" "00018758" "90" "6106" "0" "6106" "0" "c.6106G>A" "r.(?)" "p.(Gly2036Arg)" "15" "0000117006" "00018758" "90" "5825" "0" "5825" "0" "c.5825T>C" "r.(?)" "p.(Ile1942Thr)" "14" "0000117012" "00018758" "90" "719" "-1" "5274" "1" "c.(718+1_719-1)_(5274+1_5275-1)dup" "r.?" "p.?" "6i_10i" "0000117038" "00018758" "90" "2602" "0" "2602" "0" "c.2602C>T" "r.(?)" "p.(Gln868*)" "10" "0000117039" "00018758" "90" "915" "0" "915" "0" "c.915G>T" "r.(?)" "p.(Trp305Cys)" "8" "0000117040" "00018758" "90" "5070" "0" "5070" "0" "c.5070dup" "r.(?)" "p.(Leu1691Serfs*9)" "10" "0000117041" "00018758" "90" "2623" "0" "2626" "0" "c.2623_2626del" "r.(?)" "p.(Val875Phefs*21)" "10" "0000117042" "00018758" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "8" "0000117043" "00018758" "50" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "10" "0000117044" "00018758" "50" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "10" "0000117045" "00018758" "90" "4087" "0" "4087" "0" "c.4087C>T" "r.(?)" "p.(Arg1363*)" "10" "0000117046" "00018758" "90" "4087" "0" "4087" "0" "c.4087C>T" "r.(?)" "p.(Arg1363*)" "10" "0000117047" "00018758" "90" "5249" "0" "5249" "0" "c.5249dup" "r.(?)" "p.(Leu1750Phefs*8)" "10" "0000117048" "00018758" "90" "4321" "0" "4321" "0" "c.4321C>T" "r.(?)" "p.(Gln1441*)" "10" "0000117049" "00018758" "90" "6638" "0" "6638" "0" "c.6638C>T" "r.(?)" "p.(Pro2213Leu)" "20" "0000117050" "00018758" "90" "2332" "0" "2332" "0" "c.2332C>T" "r.(?)" "p.(Arg778*)" "10" "0000117051" "00018758" "90" "1238" "0" "1238" "0" "c.1238C>T" "r.(?)" "p.(Pro413Leu)" "10" "0000117052" "00018758" "90" "879" "0" "879" "0" "c.879del" "r.(?)" "p.(Phe293Leufs*3)" "8" "0000117053" "00018758" "90" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Leu389Ser)" "10" "0000117054" "00018758" "90" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Thr3Ile)" "3" "0000117055" "00018758" "90" "6407" "0" "6407" "0" "c.6407G>A" "r.(?)" "p.(Arg2136His)" "19" "0000117056" "00018758" "90" "5927" "0" "5927" "0" "c.5927T>G" "r.(?)" "p.(Leu1976Arg)" "14" "0000117057" "00018758" "90" "5929" "0" "5929" "0" "c.5929C>T" "r.(?)" "p.(Leu1977Phe)" "14" "0000117058" "00018758" "90" "1027" "0" "1027" "0" "c.1027G>T" "r.(?)" "p.(Glu343*)" "9" "0000117059" "00018758" "90" "343" "0" "345" "0" "c.343_345del" "r.(?)" "p.(Leu115del)" "4" "0000117060" "00018758" "50" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(His1049=)" "10" "0000117061" "00018758" "50" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "10" "0000117062" "00018758" "50" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "10" "0000117063" "00018758" "50" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(His1049=)" "10" "0000117064" "00018758" "50" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(His1049=)" "10" "0000117065" "00018758" "10" "1077" "0" "1077" "0" "c.1077T>C" "r.(?)" "p.(=)" "9" "0000117066" "00018758" "10" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ala660Gly)" "10" "0000117067" "00018758" "10" "3455" "0" "3455" "0" "c.3455T>G" "r.(?)" "p.(Phe1152Cys)" "10" "0000117068" "00018758" "10" "3576" "0" "3576" "0" "c.3576T>G" "r.(?)" "p.(Asp1192Glu)" "10" "0000117069" "00018758" "10" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "10" "0000117070" "00018758" "10" "4156" "0" "4156" "0" "c.4156A>G" "r.(?)" "p.(Ile1386Val)" "10" "0000117071" "00018758" "10" "5374" "16" "5374" "16" "c.5374+16C>T" "r.(?)" "p.(=)" "11i" "0000117072" "00018758" "10" "5563" "0" "5563" "0" "c.5563A>G" "r.(?)" "p.(Thr1855Ala)" "13" "0000117073" "00018758" "10" "5781" "12" "5781" "12" "c.5781+12dup" "r.(=)" "p.(=)" "13i" "0000117074" "00018758" "10" "5811" "0" "5811" "0" "c.5811T>C" "r.(?)" "p.(=)" "14" "0000117075" "00018758" "90" "6848" "0" "6851" "0" "c.6848_6851del" "r.(?)" "p.(Thr2283Lysfs*32)" "22" "0000117076" "00018758" "10" "7759" "0" "7759" "0" "c.7759A>G" "r.(?)" "p.(Ile2587Val)" "26" "0000117077" "00018758" "90" "1153" "0" "1153" "0" "c.1153G>T" "r.(?)" "p.(Glu385*)" "10" "0000117078" "00018758" "90" "1304" "0" "1304" "0" "c.1304A>G" "r.(?)" "p.(His435Arg)" "10" "0000117079" "00018758" "90" "1669" "0" "1669" "0" "c.1669C>T" "r.(?)" "p.(Arg557*)" "10" "0000117080" "00018758" "90" "1807" "0" "1807" "0" "c.1807A>G" "r.(?)" "p.(Asn603Asp)" "10" "0000117081" "00018758" "90" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Glu65Lys)" "4" "0000117082" "00018758" "90" "2378" "0" "2378" "0" "c.2378del" "r.(?)" "p.(His793Leufs*2)" "4" "0000117083" "00018758" "90" "2387" "0" "2390" "0" "c.2387_2390del" "r.(?)" "p.(Lys796Serfs*15)" "4" "0000117084" "00018758" "90" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Gln887*)" "10" "0000117085" "00018758" "90" "2755" "0" "2756" "0" "c.2755_2756del" "r.(?)" "p.(Val919Thrfs*2)" "4" "0000117086" "00018758" "90" "2835" "0" "2835" "0" "c.2835del" "r.(?)" "p.(Asp945Glufs*9)" "4" "0000117087" "00018758" "90" "2975" "0" "2975" "0" "c.2975A>G" "r.(?)" "p.(Lys992Arg)" "10" "0000117088" "00018758" "90" "3070" "0" "3073" "0" "c.3070_3073del" "r.(?)" "p.(Asp1024Lysfs*4)" "4" "0000117089" "00018758" "90" "3353" "0" "3353" "0" "c.3353C>T" "r.(?)" "p.(Thr1118Ile)" "10" "0000117090" "00018758" "90" "3604" "0" "3604" "0" "c.3604del" "r.(?)" "p.(Asp1202Ilefs*59)" "4" "0000117091" "00018758" "70" "3880" "0" "3880" "0" "c.3880C>T" "r.(?)" "p.(Arg1294Cys)" "10" "0000117092" "00018758" "90" "4036" "0" "4036" "0" "c.4036C>T" "r.(?)" "p.(Gln1346*)" "10" "0000117093" "00018758" "90" "4095" "0" "4096" "0" "c.4095_4096del" "r.(?)" "p.(Ser1366*)" "5" "0000117094" "00018758" "90" "4633" "0" "4636" "0" "c.4633_4636del" "r.(?)" "p.(Ser1545Alafs*26)" "5" "0000117095" "00018758" "90" "4660" "0" "4660" "0" "c.4660T>G" "r.(?)" "p.(Cys1554Gly)" "10" "0000117096" "00018758" "90" "4816" "0" "4816" "0" "c.4816C>T" "r.(?)" "p.(Arg1606*)" "10" "0000117097" "00018758" "90" "5308" "0" "5311" "0" "c.5308_5311del" "r.(?)" "p.(Glu1770Ilefs*15)" "6" "0000117098" "00018758" "90" "5332" "0" "5332" "0" "c.5332C>T" "r.(?)" "p.(Arg1778*)" "11" "0000117099" "00018758" "90" "5413" "0" "5413" "0" "c.5413C>T" "r.(?)" "p.(Pro1805Ser)" "12" "0000117100" "00018758" "90" "5833" "0" "5833" "0" "c.5833G>C" "r.(?)" "p.(Ala1945Pro)" "14" "0000117101" "00018758" "90" "6017" "0" "6017" "0" "c.6017G>A" "r.(?)" "p.(Cys2006Tyr)" "15" "0000117102" "00018758" "90" "6029" "0" "6029" "0" "c.6029A>G" "r.(?)" "p.(Asn2010Ser)" "15" "0000117103" "00018758" "90" "6085" "0" "6085" "0" "c.6085A>G" "r.(?)" "p.(Lys2029Glu)" "15" "0000117104" "00018758" "90" "6208" "2" "6208" "2" "c.6208+2dup" "r.spl?" "p.?" "16i" "0000117105" "00018758" "90" "6340" "0" "6341" "0" "c.6340_6341del" "r.(?)" "p.(Glu2114Lysfs*7)" "6" "0000117106" "00018758" "90" "6464" "0" "6464" "0" "c.6464T>G" "r.(?)" "p.(Leu2155Trp)" "19" "0000117107" "00018758" "90" "6590" "0" "6590" "0" "c.6590A>G" "r.(?)" "p.(His2197Arg)" "20" "0000117108" "00018758" "90" "6620" "0" "6620" "0" "c.6620A>T" "r.(?)" "p.(Asp2207Val)" "20" "0000117109" "00018758" "90" "6625" "0" "6625" "0" "c.6625A>T" "r.(?)" "p.(Lys2209*)" "20" "0000117110" "00018758" "90" "6792" "0" "6792" "0" "c.6792A>G" "r.(?)" "p.(Ile2264Met)" "21" "0000117111" "00018758" "90" "6834" "0" "6839" "0" "c.6834_6839del" "r.(?)" "p.(Lys2278_Thr2279del)" "6" "0000117112" "00018758" "90" "6859" "0" "6859" "0" "c.6859C>T" "r.(?)" "p.(Arg2287*)" "22" "0000117113" "00018758" "90" "7000" "0" "7012" "0" "c.7000_7012delinsT" "r.(?)" "p.(Arg2334_Ser2338delinsCys)" "6" "0000117114" "00018758" "90" "7089" "0" "7089" "0" "c.7089C>G" "r.(?)" "p.(Phe2363Leu)" "23" "0000117115" "00018758" "90" "7103" "0" "7103" "0" "c.7103C>G" "r.(?)" "p.(Pro2368Arg)" "24" "0000117116" "00018758" "90" "7117" "0" "7117" "0" "c.7117A>C" "r.(?)" "p.(Thr2373Pro)" "24" "0000117117" "00018758" "90" "7138" "0" "7138" "0" "c.7138C>G" "r.(?)" "p.(Arg2380Gly)" "24" "0000117118" "00018758" "90" "7139" "0" "7139" "0" "c.7139G>A" "r.(?)" "p.(Arg2380Gln)" "24" "0000117119" "00018758" "90" "7144" "0" "7144" "0" "c.7144A>G" "r.(?)" "p.(Lys2382Glu)" "24" "0000117120" "00018758" "90" "7157" "0" "7157" "0" "c.7157T>C" "r.(?)" "p.(Ile2386Thr)" "24" "0000117121" "00018758" "90" "7240" "0" "7240" "0" "c.7240C>T" "r.(?)" "p.(Arg2414*)" "25" "0000117122" "00018758" "90" "7241" "0" "7241" "0" "c.7241G>A" "r.(?)" "p.(Arg2414Gln)" "25" "0000117123" "00018758" "90" "7330" "0" "7330" "0" "c.7330C>T" "r.(?)" "p.(Arg2444Cys)" "26" "0000117124" "00018758" "90" "7331" "0" "7331" "0" "c.7331G>A" "r.(?)" "p.(Arg2444His)" "26" "0000117125" "00018758" "90" "7640" "0" "7640" "0" "c.7640T>C" "r.(?)" "p.(Ile2547Thr)" "26" "0000117126" "00018758" "90" "932" "0" "932" "0" "c.932C>T" "r.(?)" "p.(Pro311Leu)" "8" "0000117127" "00018758" "90" "2967" "0" "2971" "0" "c.2967_2971del" "r.(?)" "p.(Arg989Serfs*5)" "10" "0000117128" "00018758" "90" "-1" "0" "8035" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_26_" "0000117129" "00018758" "50" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "10" "0000117130" "00018758" "90" "5264" "0" "5264" "0" "c.5264del" "r.(?)" "p.(Thr1755Ilefs*31)" "10" "0000117131" "00018758" "90" "4087" "0" "4087" "0" "c.4087C>T" "r.(?)" "p.(Arg1363*)" "10" "0000117132" "00018758" "50" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "10" "0000117133" "00018758" "50" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "10" "0000117134" "00018758" "90" "5267" "0" "5267" "0" "c.5267T>C" "r.(?)" "p.(Phe1756Ser)" "10" "0000117135" "00018758" "90" "1957" "0" "1957" "0" "c.1957C>A" "r.(?)" "p.(Gln653Lys)" "10" "0000117136" "00018758" "50" "822" "0" "822" "0" "c.822G>H" "r.(?)" "p.(Met274Ile)" "7" "0000236391" "00018758" "50" "6070" "0" "6070" "0" "c.6070T>A" "r.(?)" "p.(Phe2024Ile)" "15" "0000236392" "00018758" "90" "5424" "0" "5424" "0" "c.5424del" "r.(?)" "p.(Asn1808Lysfs*6)" "10" "0000246772" "00018758" "10" "5811" "0" "5811" "0" "c.5811T>C" "r.(?)" "p.(Asp1937=)" "" "0000246773" "00018758" "10" "1077" "0" "1077" "0" "c.1077T>C" "r.(?)" "p.(Tyr359=)" "" "0000246774" "00018758" "10" "3576" "0" "3576" "0" "c.3576T>G" "r.(?)" "p.(Asp1192Glu)" "" "0000246775" "00018758" "10" "3455" "0" "3455" "0" "c.3455T>G" "r.(?)" "p.(Phe1152Cys)" "" "0000246776" "00018758" "10" "6935" "8" "6935" "8" "c.6935+8T>C" "r.(=)" "p.(=)" "" "0000246784" "00018758" "30" "7640" "0" "7640" "0" "c.7640T>C" "r.(?)" "p.(Ile2547Thr)" "" "0000246785" "00018758" "10" "4755" "0" "4755" "0" "c.4755T>G" "r.(?)" "p.(Pro1585=)" "" "0000246844" "00018758" "30" "4096" "0" "4096" "0" "c.4096T>C" "r.(?)" "p.(Ser1366Pro)" "" "0000246858" "00018758" "90" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Leu389Ser)" "" "0000246861" "00018758" "50" "992" "0" "992" "0" "c.992T>C" "r.(?)" "p.(Ile331Thr)" "" "0000247825" "00018758" "10" "5811" "0" "5811" "0" "c.5811T>C" "r.(?)" "p.(Asp1937=)" "" "0000247826" "00018758" "10" "1077" "0" "1077" "0" "c.1077T>C" "r.(?)" "p.(Tyr359=)" "" "0000247827" "00018758" "10" "3576" "0" "3576" "0" "c.3576T>G" "r.(?)" "p.(Asp1192Glu)" "" "0000249852" "00018758" "10" "5811" "0" "5811" "0" "c.5811T>C" "r.(?)" "p.(Asp1937=)" "" "0000249853" "00018758" "10" "1077" "0" "1077" "0" "c.1077T>C" "r.(?)" "p.(Tyr359=)" "" "0000249854" "00018758" "10" "3576" "0" "3576" "0" "c.3576T>G" "r.(?)" "p.(Asp1192Glu)" "" "0000249859" "00018758" "10" "3455" "0" "3455" "0" "c.3455T>G" "r.(?)" "p.(Phe1152Cys)" "" "0000249860" "00018758" "10" "6935" "8" "6935" "8" "c.6935+8T>C" "r.(=)" "p.(=)" "" "0000249947" "00018758" "10" "7640" "0" "7640" "0" "c.7640T>C" "r.(?)" "p.(Ile2547Thr)" "" "0000249966" "00018758" "10" "4755" "0" "4755" "0" "c.4755T>G" "r.(?)" "p.(Pro1585=)" "" "0000250295" "00018758" "30" "3351" "0" "3351" "0" "c.3351T>C" "r.(?)" "p.(Thr1117=)" "" "0000250601" "00018758" "10" "5811" "0" "5811" "0" "c.5811T>C" "r.(?)" "p.(Asp1937=)" "" "0000250602" "00018758" "10" "1077" "0" "1077" "0" "c.1077T>C" "r.(?)" "p.(Tyr359=)" "" "0000250603" "00018758" "10" "3576" "0" "3576" "0" "c.3576T>G" "r.(?)" "p.(Asp1192Glu)" "" "0000250608" "00018758" "10" "3455" "0" "3455" "0" "c.3455T>G" "r.(?)" "p.(Phe1152Cys)" "" "0000250609" "00018758" "10" "6935" "8" "6935" "8" "c.6935+8T>C" "r.(=)" "p.(=)" "" "0000250762" "00018758" "30" "7640" "0" "7640" "0" "c.7640T>C" "r.(?)" "p.(Ile2547Thr)" "" "0000250794" "00018758" "30" "4660" "0" "4660" "0" "c.4660T>G" "r.(?)" "p.(Cys1554Gly)" "" "0000251439" "00018758" "10" "6396" "43" "6396" "43" "c.6396+43del" "r.(=)" "p.(=)" "" "0000251440" "00018758" "10" "177" "125" "177" "125" "c.177+125del" "r.(=)" "p.(=)" "" "0000252953" "00018758" "10" "5811" "0" "5811" "0" "c.5811T>C" "r.(?)" "p.(Asp1937=)" "" "0000252954" "00018758" "10" "1077" "0" "1077" "0" "c.1077T>C" "r.(?)" "p.(Tyr359=)" "" "0000252955" "00018758" "10" "3576" "0" "3576" "0" "c.3576T>G" "r.(?)" "p.(Asp1192Glu)" "" "0000252960" "00018758" "10" "3455" "0" "3455" "0" "c.3455T>G" "r.(?)" "p.(Phe1152Cys)" "" "0000252961" "00018758" "10" "6935" "8" "6935" "8" "c.6935+8T>C" "r.(=)" "p.(=)" "" "0000253549" "00018758" "10" "7371" "0" "7371" "0" "c.7371T>C" "r.(?)" "p.(His2457=)" "" "0000253981" "00018758" "30" "7640" "0" "7640" "0" "c.7640T>C" "r.(?)" "p.(Ile2547Thr)" "" "0000254013" "00018758" "30" "4660" "0" "4660" "0" "c.4660T>G" "r.(?)" "p.(Cys1554Gly)" "" "0000254057" "00018758" "30" "4755" "0" "4755" "0" "c.4755T>G" "r.(?)" "p.(Pro1585=)" "" "0000255857" "00018758" "50" "1474" "0" "1474" "0" "c.1474T>G" "r.(?)" "p.(Cys492Gly)" "" "0000295757" "00018758" "30" "-8" "18" "-8" "18" "c.-8+18dup" "r.(=)" "p.(=)" "" "0000295759" "00018758" "30" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Pro361Ser)" "" "0000295760" "00018758" "50" "1919" "0" "1919" "0" "c.1919C>G" "r.(?)" "p.(Ala640Gly)" "" "0000295761" "00018758" "10" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ala660Gly)" "" "0000295762" "00018758" "50" "2565" "0" "2565" "0" "c.2565A>C" "r.(?)" "p.(Glu855Asp)" "" "0000295763" "00018758" "10" "2975" "0" "2975" "0" "c.2975A>G" "r.(?)" "p.(Lys992Arg)" "" "0000295764" "00018758" "10" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(His1049=)" "" "0000295765" "00018758" "30" "3321" "0" "3321" "0" "c.3321G>A" "r.(?)" "p.(Glu1107=)" "" "0000295766" "00018758" "10" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "" "0000295767" "00018758" "10" "4156" "0" "4156" "0" "c.4156A>G" "r.(?)" "p.(Ile1386Val)" "" "0000295768" "00018758" "10" "5374" "16" "5374" "16" "c.5374+16C>T" "r.(=)" "p.(=)" "" "0000295769" "00018758" "50" "5495" "0" "5495" "0" "c.5495A>T" "r.(?)" "p.(Asp1832Val)" "" "0000295770" "00018758" "10" "5563" "0" "5563" "0" "c.5563A>G" "r.(?)" "p.(Thr1855Ala)" "" "0000295771" "00018758" "10" "5781" "12" "5781" "12" "c.5781+12dup" "r.(=)" "p.(=)" "" "0000295773" "00018758" "10" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20His)" "" "0000295774" "00018758" "10" "6106" "14" "6106" "14" "c.6106+14G>A" "r.(=)" "p.(=)" "" "0000295775" "00018758" "90" "6407" "0" "6407" "0" "c.6407G>A" "r.(?)" "p.(Arg2136His)" "" "0000295776" "00018758" "10" "6507" "0" "6507" "0" "c.6507G>A" "r.(?)" "p.(Gly2169=)" "" "0000295778" "00018758" "10" "7759" "0" "7759" "0" "c.7759A>G" "r.(?)" "p.(Ile2587Val)" "" "0000295779" "00018758" "10" "7834" "0" "7834" "0" "c.7834A>G" "r.(?)" "p.(Ser2612Gly)" "" "0000295780" "00018758" "10" "7914" "0" "7914" "0" "c.7914C>T" "r.(?)" "p.(Phe2638=)" "" "0000295781" "00018758" "90" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Thr3Ile)" "" "0000298138" "00018758" "10" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(His1049=)" "" "0000298139" "00018758" "30" "3568" "0" "3568" "0" "c.3568A>G" "r.(?)" "p.(Lys1190Glu)" "" "0000298140" "00018758" "10" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "" "0000298141" "00018758" "10" "4156" "0" "4156" "0" "c.4156A>G" "r.(?)" "p.(Ile1386Val)" "" "0000298142" "00018758" "10" "5374" "16" "5374" "16" "c.5374+16C>T" "r.(=)" "p.(=)" "" "0000298143" "00018758" "10" "5563" "0" "5563" "0" "c.5563A>G" "r.(?)" "p.(Thr1855Ala)" "" "0000298144" "00018758" "10" "5781" "12" "5781" "12" "c.5781+12dup" "r.(=)" "p.(=)" "" "0000298145" "00018758" "10" "6843" "-5" "6843" "-5" "c.6843-5dup" "r.spl?" "p.?" "" "0000298146" "00018758" "10" "7759" "0" "7759" "0" "c.7759A>G" "r.(?)" "p.(Ile2587Val)" "" "0000299429" "00018758" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Ala488=)" "" "0000299431" "00018758" "10" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ala660Gly)" "" "0000299432" "00018758" "30" "2005" "0" "2007" "0" "c.2005_2007del" "r.(?)" "p.(Asn669del)" "" "0000299433" "00018758" "30" "2042" "0" "2042" "0" "c.2042A>G" "r.(?)" "p.(Asp681Gly)" "" "0000299434" "00018758" "30" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Lys827Glu)" "" "0000299435" "00018758" "30" "2591" "0" "2591" "0" "c.2591C>T" "r.(?)" "p.(Pro864Leu)" "" "0000299436" "00018758" "10" "2975" "0" "2975" "0" "c.2975A>G" "r.(?)" "p.(Lys992Arg)" "" "0000299437" "00018758" "10" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(His1049=)" "" "0000299438" "00018758" "30" "3182" "0" "3182" "0" "c.3182C>T" "r.(?)" "p.(Pro1061Leu)" "" "0000299439" "00018758" "30" "3345" "0" "3345" "0" "c.3345C>G" "r.(?)" "p.(Ala1115=)" "" "0000299440" "00018758" "10" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "" "0000299441" "00018758" "30" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(His126Arg)" "" "0000299442" "00018758" "30" "3968" "0" "3968" "0" "c.3968G>A" "r.(?)" "p.(Arg1323Gln)" "" "0000299443" "00018758" "30" "4090" "0" "4090" "0" "c.4090A>G" "r.(?)" "p.(Arg1364Gly)" "" "0000299444" "00018758" "10" "4156" "0" "4156" "0" "c.4156A>G" "r.(?)" "p.(Ile1386Val)" "" "0000299445" "00018758" "30" "4197" "0" "4197" "0" "c.4197A>G" "r.(?)" "p.(Thr1399=)" "" "0000299446" "00018758" "30" "4612" "0" "4612" "0" "c.4612C>T" "r.(?)" "p.(Arg1538Trp)" "" "0000299447" "00018758" "70" "4630" "0" "4631" "0" "c.4630_4631del" "r.(?)" "p.(Leu1544GlufsTer6)" "" "0000299448" "00018758" "30" "4757" "0" "4757" "0" "c.4757C>T" "r.(?)" "p.(Pro1586Leu)" "" "0000299449" "00018758" "30" "4865" "0" "4865" "0" "c.4865C>T" "r.(?)" "p.(Pro1622Leu)" "" "0000299450" "00018758" "10" "5374" "16" "5374" "16" "c.5374+16C>T" "r.(=)" "p.(=)" "" "0000299451" "00018758" "30" "5375" "-12" "5375" "-10" "c.5375-12_5375-10del" "r.(=)" "p.(=)" "" "0000299452" "00018758" "10" "5563" "0" "5563" "0" "c.5563A>G" "r.(?)" "p.(Thr1855Ala)" "" "0000299454" "00018758" "10" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20His)" "" "0000299455" "00018758" "10" "6106" "14" "6106" "14" "c.6106+14G>A" "r.(=)" "p.(=)" "" "0000299456" "00018758" "10" "6507" "0" "6507" "0" "c.6507G>A" "r.(?)" "p.(Gly2169=)" "" "0000299459" "00018758" "30" "7114" "0" "7114" "0" "c.7114G>A" "r.(?)" "p.(Asp2372Asn)" "" "0000299461" "00018758" "30" "7287" "9" "7287" "9" "c.7287+9C>A" "r.(=)" "p.(=)" "" "0000299462" "00018758" "30" "7288" "-19" "7288" "-19" "c.7288-19C>T" "r.(=)" "p.(=)" "" "0000299464" "00018758" "10" "7759" "0" "7759" "0" "c.7759A>G" "r.(?)" "p.(Ile2587Val)" "" "0000299465" "00018758" "10" "7834" "0" "7834" "0" "c.7834A>G" "r.(?)" "p.(Ser2612Gly)" "" "0000299466" "00018758" "30" "7914" "0" "7914" "0" "c.7914C>T" "r.(?)" "p.(Phe2638=)" "" "0000299467" "00018758" "30" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.(Ser27Phe)" "" "0000299468" "00018758" "30" "9" "0" "9" "0" "c.9A>G" "r.(?)" "p.(Thr3=)" "" "0000302054" "00018758" "10" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ala660Gly)" "" "0000302055" "00018758" "10" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(Gly739Glu)" "" "0000302056" "00018758" "30" "2361" "0" "2361" "0" "c.2361C>T" "r.(?)" "p.(Ile787=)" "" "0000302057" "00018758" "30" "2975" "0" "2975" "0" "c.2975A>G" "r.(?)" "p.(Lys992Arg)" "" "0000302058" "00018758" "10" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "" "0000302059" "00018758" "10" "388" "69" "388" "69" "c.388+69A>C" "r.(=)" "p.(=)" "" "0000302060" "00018758" "10" "4156" "0" "4156" "0" "c.4156A>G" "r.(?)" "p.(Ile1386Val)" "" "0000302061" "00018758" "30" "4982" "0" "4982" "0" "c.4982C>G" "r.(?)" "p.(Pro1661Arg)" "" "0000302062" "00018758" "10" "5374" "16" "5374" "16" "c.5374+16C>T" "r.(=)" "p.(=)" "" "0000302063" "00018758" "10" "5563" "0" "5563" "0" "c.5563A>G" "r.(?)" "p.(Thr1855Ala)" "" "0000302064" "00018758" "10" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20His)" "" "0000302065" "00018758" "10" "6106" "14" "6106" "14" "c.6106+14G>A" "r.(=)" "p.(=)" "" "0000302066" "00018758" "10" "6396" "43" "6396" "43" "c.6396+43dup" "r.(=)" "p.(=)" "" "0000302067" "00018758" "10" "6507" "0" "6507" "0" "c.6507G>A" "r.(?)" "p.(Gly2169=)" "" "0000302068" "00018758" "10" "6843" "-5" "6843" "-5" "c.6843-5dup" "r.spl?" "p.?" "" "0000302069" "00018758" "50" "7405" "0" "7405" "0" "c.7405C>T" "r.(?)" "p.(Leu2469=)" "" "0000302070" "00018758" "30" "7432" "0" "7432" "0" "c.7432A>G" "r.(?)" "p.(Thr2478Ala)" "" "0000302071" "00018758" "10" "7759" "0" "7759" "0" "c.7759A>G" "r.(?)" "p.(Ile2587Val)" "" "0000302072" "00018758" "10" "7834" "0" "7834" "0" "c.7834A>G" "r.(?)" "p.(Ser2612Gly)" "" "0000302073" "00018758" "30" "7914" "0" "7914" "0" "c.7914C>T" "r.(?)" "p.(Phe2638=)" "" "0000307934" "00018758" "30" "1010" "14" "1010" "14" "c.1010+14A>C" "r.(=)" "p.(=)" "" "0000307935" "00018758" "30" "1099" "-7" "1099" "-7" "c.1099-7A>G" "r.(=)" "p.(=)" "" "0000307936" "00018758" "50" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502Trp)" "" "0000307937" "00018758" "10" "1957" "0" "1957" "0" "c.1957C>A" "r.(?)" "p.(Gln653Lys)" "" "0000307938" "00018758" "10" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ala660Gly)" "" "0000307939" "00018758" "30" "2425" "0" "2425" "0" "c.2425A>G" "r.(?)" "p.(Ile809Val)" "" "0000307940" "00018758" "30" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Lys827Glu)" "" "0000307941" "00018758" "30" "2502" "0" "2502" "0" "c.2502A>G" "r.(?)" "p.(Gly834=)" "" "0000307942" "00018758" "10" "2975" "0" "2975" "0" "c.2975A>G" "r.(?)" "p.(Lys992Arg)" "" "0000307943" "00018758" "10" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(His1049=)" "" "0000307944" "00018758" "30" "3345" "0" "3345" "0" "c.3345C>G" "r.(?)" "p.(Ala1115=)" "" "0000307945" "00018758" "30" "3492" "0" "3492" "0" "c.3492A>G" "r.(?)" "p.(Arg1164=)" "" "0000307946" "00018758" "30" "3651" "0" "3651" "0" "c.3651G>A" "r.(?)" "p.(Thr1217=)" "" "0000307947" "00018758" "10" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "" "0000307948" "00018758" "30" "3890" "0" "3890" "0" "c.3890A>T" "r.(?)" "p.(Tyr1297Phe)" "" "0000307949" "00018758" "50" "3992" "0" "3992" "0" "c.3992C>T" "r.(?)" "p.(Pro1331Leu)" "" "0000307950" "00018758" "10" "4156" "0" "4156" "0" "c.4156A>G" "r.(?)" "p.(Ile1386Val)" "" "0000307951" "00018758" "30" "4390" "0" "4390" "0" "c.4390C>T" "r.(?)" "p.(Pro1464Ser)" "" "0000307952" "00018758" "30" "4982" "0" "4982" "0" "c.4982C>G" "r.(?)" "p.(Pro1661Arg)" "" "0000307953" "00018758" "30" "5271" "0" "5271" "0" "c.5271A>G" "r.(?)" "p.(Glu1757=)" "" "0000307954" "00018758" "10" "5374" "16" "5374" "16" "c.5374+16C>T" "r.(=)" "p.(=)" "" "0000307955" "00018758" "10" "5375" "-12" "5375" "-10" "c.5375-12_5375-10del" "r.(=)" "p.(=)" "" "0000307956" "00018758" "50" "5536" "0" "5536" "0" "c.5536C>T" "r.(?)" "p.(Arg1846Cys)" "" "0000307957" "00018758" "10" "5563" "0" "5563" "0" "c.5563A>G" "r.(?)" "p.(Thr1855Ala)" "" "0000307959" "00018758" "10" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20His)" "" "0000307960" "00018758" "10" "6106" "14" "6106" "14" "c.6106+14G>A" "r.(=)" "p.(=)" "" "0000307961" "00018758" "90" "6106" "0" "6106" "0" "c.6106G>A" "r.(?)" "p.(Gly2036Arg)" "" "0000307962" "00018758" "50" "6166" "0" "6166" "0" "c.6166G>A" "r.(?)" "p.(Val2056Ile)" "" "0000307963" "00018758" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Asp209Asn)" "" "0000307964" "00018758" "30" "6507" "0" "6507" "0" "c.6507G>A" "r.(?)" "p.(Gly2169=)" "" "0000307965" "00018758" "30" "6517" "0" "6517" "0" "c.6517G>A" "r.(?)" "p.(Val2173Ile)" "" "0000307966" "00018758" "30" "6675" "0" "6675" "0" "c.6675C>T" "r.(?)" "p.(Tyr2225=)" "" "0000307967" "00018758" "50" "6806" "0" "6806" "0" "c.6806C>T" "r.(?)" "p.(Ser2269Phe)" "" "0000307969" "00018758" "30" "6936" "-11" "6936" "-11" "c.6936-11A>G" "r.(=)" "p.(=)" "" "0000307970" "00018758" "30" "7114" "0" "7114" "0" "c.7114G>A" "r.(?)" "p.(Asp2372Asn)" "" "0000307972" "00018758" "30" "768" "0" "768" "0" "c.768G>T" "r.(?)" "p.(Leu256=)" "" "0000307973" "00018758" "10" "7759" "0" "7759" "0" "c.7759A>G" "r.(?)" "p.(Ile2587Val)" "" "0000307974" "00018758" "10" "7834" "0" "7834" "0" "c.7834A>G" "r.(?)" "p.(Ser2612Gly)" "" "0000307975" "00018758" "50" "7870" "0" "7870" "0" "c.7870G>T" "r.(?)" "p.(Asp2624Tyr)" "" "0000307976" "00018758" "30" "7914" "0" "7914" "0" "c.7914C>G" "r.(?)" "p.(Phe2638Leu)" "" "0000307977" "00018758" "30" "7982" "0" "7982" "0" "c.7982A>G" "r.(?)" "p.(Lys2661Arg)" "" "0000307978" "00018758" "30" "7990" "0" "7990" "0" "c.7990C>T" "r.(?)" "p.(Leu2664=)" "" "0000307979" "00018758" "30" "831" "0" "831" "0" "c.831A>T" "r.(?)" "p.(Glu277Asp)" "" "0000307980" "00018758" "50" "995" "0" "995" "0" "c.995G>A" "r.(?)" "p.(Arg332Gln)" "" "0000332852" "00018758" "30" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Lys827Glu)" "" "0000337163" "00018758" "10" "6935" "8" "6935" "8" "c.6935+8T>C" "r.(=)" "p.(=)" "" "0000337164" "00018758" "10" "5374" "16" "5374" "16" "c.5374+16C>T" "r.(=)" "p.(=)" "" "0000339046" "00018758" "90" "6106" "0" "6106" "0" "c.6106G>A" "r.(?)" "p.(Gly2036Arg)" "" "0000339191" "00018758" "10" "6507" "0" "6507" "0" "c.6507G>A" "r.(?)" "p.(Gly2169=)" "" "0000340636" "00018758" "10" "7905" "0" "7905" "0" "c.7905C>T" "r.(?)" "p.(Ala2635=)" "" "0000340718" "00018758" "10" "5811" "0" "5811" "0" "c.5811T>C" "r.(?)" "p.(Asp1937=)" "" "0000340799" "00018758" "10" "3147" "0" "3147" "0" "c.3147C>T" "r.(?)" "p.(His1049=)" "" "0000341041" "00018758" "10" "1077" "0" "1077" "0" "c.1077T>C" "r.(?)" "p.(Tyr359=)" "" "0000341877" "00018758" "90" "4088" "0" "4089" "0" "c.4088_4089insC" "r.(?)" "p.(Arg1364LysfsTer4)" "" "0000343223" "00018758" "10" "1979" "0" "1979" "0" "c.1979C>G" "r.(?)" "p.(Ala660Gly)" "" "0000344656" "00018758" "90" "6322" "0" "6322" "0" "c.6322C>T" "r.(?)" "p.(Gln2108Ter)" "" "0000345304" "00018758" "50" "7820" "0" "7820" "0" "c.7820A>G" "r.(?)" "p.(Glu2607Gly)" "" "0000345675" "00018758" "10" "3754" "0" "3754" "0" "c.3754G>A" "r.(?)" "p.(Gly1252Arg)" "" "0000346575" "00018758" "10" "4156" "0" "4156" "0" "c.4156A>G" "r.(?)" "p.(Ile1386Val)" "" "0000346656" "00018758" "10" "7759" "0" "7759" "0" "c.7759A>G" "r.(?)" "p.(Ile2587Val)" "" "0000347936" "00018758" "10" "3455" "0" "3455" "0" "c.3455T>G" "r.(?)" "p.(Phe1152Cys)" "" "0000348289" "00018758" "70" "6638" "0" "6638" "0" "c.6638C>T" "r.(?)" "p.(Pro2213Leu)" "" "0000348882" "00018758" "10" "7834" "0" "7834" "0" "c.7834A>G" "r.(?)" "p.(Ser2612Gly)" "" "0000349330" "00018758" "10" "5563" "0" "5563" "0" "c.5563A>G" "r.(?)" "p.(Thr1855Ala)" "" "0000350896" "00018758" "30" "7100" "9" "7100" "9" "c.7100+9T>C" "r.(=)" "p.(=)" "" "0000350897" "00018758" "10" "4755" "0" "4755" "0" "c.4755T>G" "r.(?)" "p.(Pro1585=)" "" "0000356889" "00018758" "90" "6838" "0" "6841" "0" "c.6838_6841del" "r.(?)" "p.(Asn2280Aspfs*35)" "" "0000356890" "00018758" "90" "2332" "0" "2332" "0" "c.2332C>T" "r.(?)" "p.(Arg778*)" "" "0000442736" "00018758" "50" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.Tyr237Cys" "" "0000536647" "00018758" "30" "7979" "0" "7979" "0" "c.7979A>G" "r.(?)" "p.(Asp2660Gly)" "" "0000536648" "00018758" "90" "7948" "0" "7961" "0" "c.7948_7961del" "r.(?)" "p.(Thr2650GlufsTer4)" "" "0000536649" "00018758" "30" "7814" "0" "7814" "0" "c.7814G>A" "r.(?)" "p.(Arg2605Gln)" "" "0000536650" "00018758" "30" "7724" "0" "7724" "0" "c.7724C>T" "r.(?)" "p.(Pro2575Leu)" "" "0000536651" "00018758" "10" "7724" "0" "7724" "0" "c.7724C>T" "r.(?)" "p.(Pro2575Leu)" "" "0000536652" "00018758" "50" "7641" "0" "7641" "0" "c.7641dup" "r.(?)" "p.(Glu2548Ter)" "" "0000536653" "00018758" "30" "7621" "0" "7621" "0" "c.7621C>T" "r.(?)" "p.(Leu2541=)" "" "0000536654" "00018758" "30" "7432" "0" "7432" "0" "c.7432A>G" "r.(?)" "p.(Thr2478Ala)" "" "0000536655" "00018758" "50" "7220" "0" "7220" "0" "c.7220G>T" "r.(?)" "p.(Arg2407Ile)" "" "0000536656" "00018758" "30" "7200" "-10" "7200" "-10" "c.7200-10dup" "r.(=)" "p.(=)" "" "0000536657" "00018758" "30" "7200" "-10" "7200" "-10" "c.7200-10dup" "r.(=)" "p.(=)" "" "0000536658" "00018758" "30" "7114" "0" "7114" "0" "c.7114G>A" "r.(?)" "p.(Asp2372Asn)" "" "0000536659" "00018758" "30" "7114" "0" "7114" "0" "c.7114G>A" "r.(?)" "p.(Asp2372Asn)" "" "0000536660" "00018758" "30" "7101" "0" "7101" "0" "c.7101A>G" "r.(?)" "p.(Gly2367=)" "" "0000536661" "00018758" "30" "7092" "0" "7092" "0" "c.7092T>C" "r.(?)" "p.(Asp2364=)" "" "0000536662" "00018758" "90" "6859" "0" "6859" "0" "c.6859C>T" "r.(?)" "p.(Arg2287Ter)" "" "0000536663" "00018758" "30" "6843" "-6" "6843" "-5" "c.6843-6_6843-5del" "r.spl?" "p.?" "" "0000536664" "00018758" "10" "6843" "-6" "6843" "-5" "c.6843-6_6843-5dup" "r.spl?" "p.?" "" "0000536665" "00018758" "10" "6843" "-5" "6843" "-5" "c.6843-5del" "r.spl?" "p.?" "" "0000536666" "00018758" "10" "6843" "-5" "6843" "-5" "c.6843-5del" "r.spl?" "p.?" "" "0000536667" "00018758" "10" "6843" "-5" "6843" "-5" "c.6843-5dup" "r.spl?" "p.?" "" "0000536668" "00018758" "10" "6843" "-5" "6843" "-5" "c.6843-5dup" "r.spl?" "p.?" "" "0000536669" "00018758" "10" "6843" "-5" "6843" "-5" "c.6843-5dup" "r.spl?" "p.?" "" "0000536670" "00018758" "10" "6843" "-38" "6843" "-38" "c.6843-38C>T" "r.(=)" "p.(=)" "" "0000536671" "00018758" "30" "6546" "103" "6546" "103" "c.6546+103del" "r.(=)" "p.(=)" "" "0000536672" "00018758" "50" "6517" "0" "6517" "0" "c.6517G>A" "r.(?)" "p.(Val2173Ile)" "" "0000536673" "00018758" "50" "6457" "0" "6457" "0" "c.6457T>C" "r.(?)" "p.(Cys2153Arg)" "" "0000536675" "00018758" "30" "6108" "0" "6108" "0" "c.6108A>G" "r.(?)" "p.(Gly2036=)" "" "0000536676" "00018758" "30" "6108" "0" "6108" "0" "c.6108A>G" "r.(?)" "p.(Gly2036=)" "" "0000536677" "00018758" "30" "6108" "0" "6108" "0" "c.6108A>G" "r.(?)" "p.(Gly2036=)" "" "0000536678" "00018758" "30" "5949" "5" "5949" "5" "c.5949+5G>A" "r.spl?" "p.?" "" "0000536679" "00018758" "50" "5949" "5" "5949" "5" "c.5949+5G>A" "r.spl?" "p.?" "" "0000536680" "00018758" "30" "5931" "0" "5931" "0" "c.5931C>G" "r.(?)" "p.(Leu1977=)" "" "0000536681" "00018758" "30" "5885" "0" "5885" "0" "c.5885A>G" "r.(?)" "p.(His1962Arg)" "" "0000536682" "00018758" "10" "5781" "12" "5781" "12" "c.5781+12dup" "r.(=)" "p.(=)" "" "0000536683" "00018758" "10" "5781" "12" "5781" "12" "c.5781+12dup" "r.(=)" "p.(=)" "" "0000536684" "00018758" "30" "5051" "0" "5051" "0" "c.5051C>G" "r.(?)" "p.(Ser1684Cys)" "" "0000536685" "00018758" "30" "5019" "0" "5019" "0" "c.5019A>G" "r.(?)" "p.(Lys1673=)" "" "0000536687" "00018758" "30" "4865" "0" "4865" "0" "c.4865C>T" "r.(?)" "p.(Pro1622Leu)" "" "0000536688" "00018758" "50" "4675" "0" "4675" "0" "c.4675A>G" "r.(?)" "p.(Lys1559Glu)" "" "0000536689" "00018758" "30" "4660" "0" "4660" "0" "c.4660T>G" "r.(?)" "p.(Cys1554Gly)" "" "0000536690" "00018758" "30" "4660" "0" "4660" "0" "c.4660T>G" "r.(?)" "p.(Cys1554Gly)" "" "0000536691" "00018758" "90" "4630" "0" "4631" "0" "c.4630_4631del" "r.(?)" "p.(Leu1544GlufsTer6)" "" "0000536692" "00018758" "30" "4417" "0" "4417" "0" "c.4417C>T" "r.(?)" "p.(Arg1473Cys)" "" "0000536693" "00018758" "30" "4197" "0" "4197" "0" "c.4197A>G" "r.(?)" "p.(Thr1399=)" "" "0000536694" "00018758" "30" "4096" "0" "4096" "0" "c.4096T>C" "r.(?)" "p.(Ser1366Pro)" "" "0000536695" "00018758" "50" "4020" "0" "4022" "0" "c.4020_4022del" "r.(?)" "p.(Lys1341del)" "" "0000536696" "00018758" "30" "3826" "0" "3826" "0" "c.3826C>G" "r.(?)" "p.(Gln1276Glu)" "" "0000536697" "00018758" "30" "3809" "0" "3809" "0" "c.3809C>T" "r.(?)" "p.(Pro1270Leu)" "" "0000536698" "00018758" "30" "3809" "0" "3809" "0" "c.3809C>T" "r.(?)" "p.(Pro1270Leu)" "" "0000536699" "00018758" "30" "3809" "0" "3809" "0" "c.3809C>T" "r.(?)" "p.(Pro1270Leu)" "" "0000536700" "00018758" "10" "3663" "0" "3663" "0" "c.3663G>C" "r.(?)" "p.(Lys1221Asn)" "" "0000536701" "00018758" "10" "3663" "0" "3663" "0" "c.3663G>C" "r.(?)" "p.(Lys1221Asn)" "" "0000536702" "00018758" "30" "3651" "0" "3651" "0" "c.3651G>T" "r.(?)" "p.(Thr1217=)" "" "0000536703" "00018758" "10" "3568" "0" "3568" "0" "c.3568A>G" "r.(?)" "p.(Lys1190Glu)" "" "0000536704" "00018758" "30" "3568" "0" "3568" "0" "c.3568A>G" "r.(?)" "p.(Lys1190Glu)" "" "0000536705" "00018758" "30" "3410" "0" "3410" "0" "c.3410G>A" "r.(?)" "p.(Gly1137Asp)" "" "0000536706" "00018758" "30" "3336" "0" "3336" "0" "c.3336T>C" "r.(?)" "p.(Ala1112=)" "" "0000536707" "00018758" "30" "3336" "0" "3336" "0" "c.3336T>C" "r.(?)" "p.(Ala1112=)" "" "0000536708" "00018758" "30" "3336" "0" "3336" "0" "c.3336T>C" "r.(?)" "p.(Ala1112=)" "" "0000536709" "00018758" "30" "3336" "0" "3336" "0" "c.3336T>C" "r.(?)" "p.(Ala1112=)" "" "0000536710" "00018758" "50" "3229" "0" "3229" "0" "c.3229G>A" "r.(?)" "p.(Asp1077Asn)" "" "0000536711" "00018758" "30" "3229" "0" "3229" "0" "c.3229G>A" "r.(?)" "p.(Asp1077Asn)" "" "0000536712" "00018758" "50" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Asp1022Asn)" "" "0000536713" "00018758" "30" "2755" "0" "2755" "0" "c.2755G>C" "r.(?)" "p.(Val919Leu)" "" "0000536714" "00018758" "30" "2730" "0" "2730" "0" "c.2730A>C" "r.(?)" "p.(Ser910=)" "" "0000536715" "00018758" "30" "2672" "0" "2672" "0" "c.2672T>C" "r.(?)" "p.(Val891Ala)" "" "0000536716" "00018758" "50" "2672" "0" "2672" "0" "c.2672T>C" "r.(?)" "p.(Val891Ala)" "" "0000536717" "00018758" "90" "2623" "0" "2626" "0" "c.2623_2626del" "r.(?)" "p.(Val875PhefsTer21)" "" "0000536718" "00018758" "90" "2387" "0" "2387" "0" "c.2387del" "r.(?)" "p.(Lys796ArgfsTer16)" "" "0000536719" "00018758" "10" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(Gly739Glu)" "" "0000536720" "00018758" "30" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(Gly739Glu)" "" "0000536721" "00018758" "30" "2113" "0" "2113" "0" "c.2113A>C" "r.(?)" "p.(Ile705Leu)" "" "0000536722" "00018758" "30" "1701" "0" "1701" "0" "c.1701A>G" "r.(?)" "p.(Arg567=)" "" "0000536723" "00018758" "50" "1697" "0" "1697" "0" "c.1697T>C" "r.(?)" "p.(Leu566Pro)" "" "0000536724" "00018758" "50" "1391" "0" "1391" "0" "c.1391C>T" "r.(?)" "p.(Ser464Leu)" "" "0000536725" "00018758" "50" "1103" "0" "1103" "0" "c.1103C>G" "r.(?)" "p.(Ser368Cys)" "" "0000536726" "00018758" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Ser323Asn)" "" "0000536727" "00018758" "30" "794" "0" "794" "0" "c.794A>G" "r.(?)" "p.(Asp265Gly)" "" "0000536728" "00018758" "30" "717" "0" "717" "0" "c.717A>G" "r.(?)" "p.(Leu239=)" "" "0000536729" "00018758" "30" "717" "0" "717" "0" "c.717A>G" "r.(?)" "p.(Leu239=)" "" "0000536730" "00018758" "50" "654" "0" "654" "0" "c.654G>C" "r.(?)" "p.(Lys218Asn)" "" "0000536731" "00018758" "30" "654" "0" "654" "0" "c.654G>C" "r.(?)" "p.(Lys218Asn)" "" "0000536732" "00018758" "10" "498" "20" "498" "20" "c.498+20G>A" "r.(=)" "p.(=)" "" "0000536733" "00018758" "10" "498" "20" "498" "20" "c.498+20G>A" "r.(=)" "p.(=)" "" "0000536734" "00018758" "10" "498" "20" "498" "20" "c.498+20G>A" "r.(=)" "p.(=)" "" "0000536735" "00018758" "10" "498" "20" "498" "20" "c.498+20G>A" "r.(=)" "p.(=)" "" "0000536736" "00018758" "50" "472" "0" "472" "0" "c.472T>G" "r.(?)" "p.(Leu158Val)" "" "0000536737" "00018758" "30" "472" "0" "472" "0" "c.472T>G" "r.(?)" "p.(Leu158Val)" "" "0000536738" "00018758" "10" "472" "0" "472" "0" "c.472T>G" "r.(?)" "p.(Leu158Val)" "" "0000536739" "00018758" "50" "-8" "20" "-8" "20" "c.-8+20G>A" "r.(=)" "p.(=)" "" "0000611919" "00018758" "30" "7771" "0" "7771" "0" "c.7771G>A" "r.(?)" "p.(Ala2591Thr)" "" "0000611920" "00018758" "30" "6935" "2" "6935" "2" "c.6935+2dup" "r.spl?" "p.?" "" "0000611921" "00018758" "30" "6843" "-5" "6843" "-5" "c.6843-5dup" "r.spl?" "p.?" "" "0000611922" "00018758" "30" "6096" "0" "6096" "0" "c.6096G>A" "r.(?)" "p.(Lys2032=)" "" "0000611923" "00018758" "50" "5949" "5" "5949" "5" "c.5949+5G>A" "r.spl?" "p.?" "" "0000611924" "00018758" "30" "5787" "0" "5787" "0" "c.5787G>A" "r.(?)" "p.(Ala1929=)" "" "0000611925" "00018758" "50" "5534" "0" "5534" "0" "c.5534G>A" "r.(?)" "p.(Arg1845His)" "" "0000611926" "00018758" "50" "5042" "0" "5042" "0" "c.5042A>G" "r.(?)" "p.(Tyr1681Cys)" "" "0000611927" "00018758" "30" "4982" "0" "4982" "0" "c.4982C>G" "r.(?)" "p.(Pro1661Arg)" "" "0000611928" "00018758" "30" "3310" "0" "3310" "0" "c.3310C>G" "r.(?)" "p.(Gln1104Glu)" "" "0000611929" "00018758" "50" "2542" "0" "2544" "0" "c.2542_2544del" "r.(?)" "p.(Val848del)" "" "0000611930" "00018758" "70" "2387" "0" "2387" "0" "c.2387del" "r.(?)" "p.(Lys796ArgfsTer16)" "" "0000611931" "00018758" "30" "2072" "0" "2072" "0" "c.2072A>G" "r.(?)" "p.(Gln691Arg)" "" "0000611933" "00018758" "50" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Ser553Phe)" "" "0000611934" "00018758" "30" "498" "14" "498" "14" "c.498+14T>C" "r.(=)" "p.(=)" "" "0000611935" "00018758" "30" "192" "0" "192" "0" "c.192A>G" "r.(?)" "p.(Leu64=)" "" "0000611936" "00018758" "30" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "0000622188" "00018758" "10" "7905" "0" "7905" "0" "c.7905C>T" "r.(?)" "p.(Ala2635=)" "" "0000622189" "00018758" "30" "5949" "5" "5949" "5" "c.5949+5G>A" "r.spl?" "p.?" "" "0000622190" "00018758" "30" "5616" "0" "5616" "0" "c.5616C>T" "r.(?)" "p.(Asn1872=)" "" "0000622191" "00018758" "30" "4991" "0" "4991" "0" "c.4991C>T" "r.(?)" "p.(Pro1664Leu)" "" "0000622192" "00018758" "50" "4612" "0" "4612" "0" "c.4612C>T" "r.(?)" "p.(Arg1538Trp)" "" "0000622193" "00018758" "30" "3345" "0" "3345" "0" "c.3345C>G" "r.(?)" "p.(Ala1115=)" "" "0000622194" "00018758" "50" "2981" "0" "2981" "0" "c.2981A>G" "r.(?)" "p.(Asp994Gly)" "" "0000622195" "00018758" "50" "2387" "0" "2387" "0" "c.2387del" "r.(?)" "p.(Lys796ArgfsTer16)" "" "0000652633" "00018758" "30" "9322" "0" "9322" "0" "c.*1288T>C" "r.(=)" "p.(=)" "" "0000652634" "00018758" "30" "7114" "0" "7114" "0" "c.7114G>A" "r.(?)" "p.(Asp2372Asn)" "" "0000652635" "00018758" "30" "4660" "0" "4660" "0" "c.4660T>G" "r.(?)" "p.(Cys1554Gly)" "" "0000652636" "00018758" "50" "472" "0" "472" "0" "c.472T>G" "r.(?)" "p.(Leu158Val)" "" "0000652637" "00018758" "30" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20His)" "" "0000656250" "00018758" "30" "7875" "0" "7875" "0" "c.7875G>A" "r.(?)" "p.(Pro2625=)" "" "0000656251" "00018758" "50" "7195" "0" "7195" "0" "c.7195A>G" "r.(?)" "p.(Ile2399Val)" "" "0000656252" "00018758" "50" "7139" "0" "7139" "0" "c.7139G>A" "r.(?)" "p.(Arg2380Gln)" "" "0000656253" "00018758" "90" "4706" "0" "4707" "0" "c.4706_4707del" "r.(?)" "p.(Ser1569Ter)" "" "0000656254" "00018758" "30" "4273" "0" "4273" "0" "c.4273A>G" "r.(?)" "p.(Lys1425Glu)" "" "0000656255" "00018758" "30" "4090" "0" "4090" "0" "c.4090A>G" "r.(?)" "p.(Arg1364Gly)" "" "0000656256" "00018758" "50" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Gly1006Arg)" "" "0000656257" "00018758" "30" "2407" "0" "2407" "0" "c.2407A>G" "r.(?)" "p.(Thr803Ala)" "" "0000656258" "00018758" "30" "900" "0" "900" "0" "c.900T>C" "r.(?)" "p.(Leu300=)" "" "0000656259" "00018758" "50" "654" "0" "654" "0" "c.654G>C" "r.(?)" "p.(Lys218Asn)" "" "0000667188" "00018758" "50" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Gly1006Arg)" "" "0000670046" "00018758" "30" "4660" "0" "4660" "0" "c.4660T>G" "r.(?)" "p.(Cys1554Gly)" "" "0000670047" "00018758" "30" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20His)" "" "0000678566" "00018758" "50" "6313" "0" "6313" "0" "c.6313C>T" "r.(?)" "p.(Arg2105Trp)" "" "0000678567" "00018758" "70" "5548" "5" "5548" "8" "c.5548+5_5548+8del" "r.spl?" "p.?" "" "0000678568" "00018758" "50" "4991" "0" "4991" "0" "c.4991C>T" "r.(?)" "p.(Pro1664Leu)" "" "0000678569" "00018758" "50" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Leu938Ser)" "" "0000678570" "00018758" "30" "2124" "0" "2124" "0" "c.2124T>C" "r.(?)" "p.(Ser708=)" "" "0000690440" "00018758" "30" "7914" "0" "7914" "0" "c.7914C>T" "r.(?)" "p.(Phe2638=)" "" "0000690441" "00018758" "50" "7287" "168" "7287" "174" "c.7287+168_7287+174dup" "r.(=)" "p.(=)" "" "0000690442" "00018758" "30" "7200" "-10" "7200" "-10" "c.7200-10dup" "r.(=)" "p.(=)" "" "0000690443" "00018758" "30" "3809" "0" "3809" "0" "c.3809C>T" "r.(?)" "p.(Pro1270Leu)" "" "0000722321" "00018758" "30" "7287" "207" "7287" "207" "c.7287+207C>T" "r.(=)" "p.(=)" "" "0000722322" "00018758" "50" "6179" "0" "6179" "0" "c.6179G>C" "r.(?)" "p.(Ser2060Thr)" "" "0000722323" "00018758" "30" "5275" "-18" "5275" "-18" "c.5275-18C>G" "r.(=)" "p.(=)" "" "0000722324" "00018758" "30" "5271" "0" "5271" "0" "c.5271A>G" "r.(?)" "p.(Glu1757=)" "" "0000722325" "00018758" "30" "5220" "0" "5220" "0" "c.5220T>C" "r.(?)" "p.(Tyr1740=)" "" "0000722326" "00018758" "30" "4273" "0" "4273" "0" "c.4273A>G" "r.(?)" "p.(Lys1425Glu)" "" "0000722327" "00018758" "50" "3664" "0" "3666" "0" "c.3664_3666del" "r.(?)" "p.(Lys1222del)" "" "0000722328" "00018758" "30" "3410" "0" "3410" "0" "c.3410G>A" "r.(?)" "p.(Gly1137Asp)" "" "0000722329" "00018758" "30" "3321" "0" "3321" "0" "c.3321G>A" "r.(?)" "p.(Glu1107=)" "" "0000722330" "00018758" "50" "3298" "0" "3298" "0" "c.3298A>G" "r.(?)" "p.(Asn1100Asp)" "" "0000722331" "00018758" "10" "3182" "0" "3182" "0" "c.3182C>T" "r.(?)" "p.(Pro1061Leu)" "" "0000722332" "00018758" "50" "2007" "0" "2009" "0" "c.2007_2009del" "r.(?)" "p.(Asn669_Glu670delinsLys)" "" "0000722333" "00018758" "30" "1227" "0" "1227" "0" "c.1227A>G" "r.(?)" "p.(Leu409=)" "" "0000722334" "00018758" "30" "1026" "0" "1026" "0" "c.1026G>A" "r.(?)" "p.(Pro342=)" "" "0000722335" "00018758" "30" "81" "0" "81" "0" "c.81C>T" "r.(?)" "p.(Ser27=)" "" "0000764191" "00018758" "70" "5825" "0" "5825" "0" "c.5825T>C" "r.(?)" "p.(Ile1942Thr)" "" "0000764192" "00018758" "50" "5051" "0" "5051" "0" "c.5051C>G" "r.(?)" "p.(Ser1684Cys)" "" "0000787024" "00018758" "70" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Trp)" "6" "0000787026" "00018758" "70" "718" "1" "718" "1" "c.718+1G>A" "r.spl" "p.?" "6i" "0000787027" "00018758" "90" "5927" "0" "5927" "0" "c.5927T>G" "r.(?)" "p.(Leu1976Arg)" "14" "0000787174" "00018758" "50" "6029" "0" "6029" "0" "c.6029A>G" "r.(?)" "p.(Asn2010Ser)" "15" "0000787392" "00018758" "50" "3347" "0" "3347" "0" "c.3347A>G" "r.(?)" "p.(Asn1116Ser)" "10" "0000787393" "00018758" "50" "5102" "0" "5102" "0" "c.5102T>C" "r.(?)" "p.(Phe1701Ser)" "10" "0000787394" "00018758" "50" "6530" "0" "6530" "0" "c.6530G>A" "r.(?)" "p.(Cys2177Tyr)" "19" "0000787522" "00018758" "90" "5475" "0" "5475" "0" "c.5475dup" "r.(?)" "p.(Glu1826ArgfsTer4)" "12" "0000787598" "00018758" "50" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502Trp)" "10" "0000787611" "00018758" "50" "7361" "0" "7361" "0" "c.7361A>T" "r.(?)" "p.(Asn2454Ile)" "26" "0000803922" "00018758" "70" "5683" "0" "5684" "0" "c.5683_5684del" "r.(?)" "p.(Leu1895Valfs*3)" "" "0000803923" "00018758" "10" "4660" "0" "4660" "0" "c.4660T>G" "r.(?)" "p.(Cys1554Gly)" "" "0000803924" "00018758" "30" "3072" "0" "3074" "0" "c.3072_3074dup" "r.(?)" "p.(Asp1024dup)" "" "0000803925" "00018758" "30" "2750" "0" "2750" "0" "c.2750T>C" "r.(?)" "p.(Met917Thr)" "" "0000803926" "00018758" "30" "2502" "0" "2502" "0" "c.2502A>G" "r.(?)" "p.(Gly834=)" "" "0000803927" "00018758" "90" "2387" "0" "2390" "0" "c.2387_2390del" "r.(?)" "p.(Lys796SerfsTer15)" "" "0000803928" "00018758" "50" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ser761Leu)" "" "0000803929" "00018758" "30" "2101" "0" "2101" "0" "c.2101G>A" "r.(?)" "p.(Ala701Thr)" "" "0000803930" "00018758" "30" "1626" "0" "1626" "0" "c.1626C>T" "r.(?)" "p.(Leu542=)" "" "0000803931" "00018758" "50" "680" "0" "680" "0" "c.680A>T" "r.(?)" "p.(His227Leu)" "" "0000822511" "00018758" "70" "7330" "0" "7330" "0" "c.7330C>T" "r.(?)" "p.(Arg2444Cys)" "" "0000822512" "00018758" "70" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "" "0000831661" "00018758" "90" "3503" "0" "3503" "0" "c.3503del" "r.(?)" "p.(Pro1168Glnfs*7)" "10" "0000841448" "00018758" "90" "3503" "0" "3503" "0" "c.3503del" "r.(?)" "p.(Pro1168Glnfs*7)" "10" "0000841449" "00018758" "90" "3204" "0" "3205" "0" "c.3204_3205del" "r.(?)" "p.(Glu1068Aspfs*6)" "10" "0000852149" "00018758" "10" "7724" "0" "7724" "0" "c.7724C>T" "r.(?)" "p.(Pro2575Leu)" "" "0000852150" "00018758" "30" "5781" "9" "5781" "9" "c.5781+9T>C" "r.(=)" "p.(=)" "" "0000852151" "00018758" "30" "4197" "0" "4197" "0" "c.4197A>G" "r.(?)" "p.(Thr1399=)" "" "0000852152" "00018758" "10" "3663" "0" "3663" "0" "c.3663G>C" "r.(?)" "p.(Lys1221Asn)" "" "0000861429" "00018758" "30" "7814" "0" "7814" "0" "c.7814G>A" "r.(?)" "p.(Arg2605Gln)" "" "0000861430" "00018758" "30" "7287" "207" "7287" "207" "c.7287+207C>T" "r.(=)" "p.(=)" "" "0000861431" "00018758" "30" "6546" "17" "6546" "17" "c.6546+17C>G" "r.(=)" "p.(=)" "" "0000861432" "00018758" "30" "5074" "0" "5074" "0" "c.5074T>C" "r.(?)" "p.(Leu1692=)" "" "0000861433" "00018758" "50" "3664" "0" "3666" "0" "c.3664_3666del" "r.(?)" "p.(Lys1222del)" "" "0000861434" "00018758" "30" "3345" "0" "3345" "0" "c.3345C>G" "r.(?)" "p.(Ala1115=)" "" "0000861435" "00018758" "50" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Ser553Phe)" "" "0000873643" "00018758" "70" "7114" "0" "7114" "0" "c.7114G>A" "r.(?)" "p.(Asp2372Asn)" "" "0000888664" "00018758" "50" "7939" "0" "7939" "0" "c.7939G>T" "r.(?)" "p.(Gly2647Cys)" "" "0000888665" "00018758" "50" "7034" "0" "7036" "0" "c.7034_7036del" "r.(?)" "p.(Ile2345del)" "" "0000888666" "00018758" "90" "6490" "0" "6490" "0" "c.6490G>T" "r.(?)" "p.(Glu2164*)" "" "0000888667" "00018758" "50" "4273" "0" "4273" "0" "c.4273A>G" "r.(?)" "p.(Lys1425Glu)" "" "0000888668" "00018758" "50" "4088" "0" "4088" "0" "c.4088G>A" "r.(?)" "p.(Arg1363Gln)" "" "0000888669" "00018758" "90" "4075" "0" "4076" "0" "c.4075_4076del" "r.(?)" "p.(Gln1359Lysfs*3)" "" "0000888670" "00018758" "50" "3333" "0" "3333" "0" "c.3333G>C" "r.(?)" "p.(Leu1111Phe)" "" "0000888671" "00018758" "50" "2003" "0" "2003" "0" "c.2003A>G" "r.(?)" "p.(Asn668Ser)" "" "0000888672" "00018758" "30" "1626" "0" "1626" "0" "c.1626C>T" "r.(?)" "p.(Leu542=)" "" "0000913095" "00018758" "50" "7870" "0" "7870" "0" "c.7870G>T" "r.(?)" "p.(Asp2624Tyr)" "" "0000913096" "00018758" "50" "4982" "0" "4982" "0" "c.4982C>G" "r.(?)" "p.(Pro1661Arg)" "" "0000913097" "00018758" "30" "2113" "0" "2113" "0" "c.2113A>C" "r.(?)" "p.(Ile705Leu)" "" "0000913098" "00018758" "30" "472" "0" "472" "0" "c.472T>G" "r.(?)" "p.(Leu158Val)" "" "0000924972" "00018758" "30" "7200" "-10" "7200" "-10" "c.7200-10dup" "r.(=)" "p.(=)" "" "0000924973" "00018758" "50" "5998" "0" "5998" "0" "c.5998C>G" "r.(?)" "p.(Gln2000Glu)" "" "0000924974" "00018758" "50" "2691" "0" "2691" "0" "c.2691C>G" "r.(?)" "p.(Ile897Met)" "" "0000924975" "00018758" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Ser323Asn)" "" "0000924976" "00018758" "70" "499" "-1" "499" "-1" "c.499-1G>C" "r.spl?" "p.?" "" "0000929542" "00018758" "30" "1221" "0" "1221" "0" "c.1221A>G" "r.(?)" "p.(=)" "" "0000946864" "00018758" "90" "5308" "0" "5311" "0" "c.5308_5311del" "r.(?)" "p.(Glu1770IlefsTer15)" "" "0000946865" "00018758" "90" "5308" "0" "5311" "0" "c.5308_5311del" "r.(?)" "p.(Glu1770IlefsTer15)" "" "0000946866" "00018758" "90" "5308" "0" "5311" "0" "c.5308_5311del" "r.(?)" "p.(Glu1770IlefsTer15)" "" "0000949206" "00018758" "50" "4745" "0" "4745" "0" "c.4745C>T" "r.(?)" "p.(Pro1582Leu)" "" "0000949207" "00018758" "50" "4433" "0" "4433" "0" "c.4433C>A" "r.(?)" "p.(Ala1478Glu)" "" "0000965221" "00018758" "50" "3233" "0" "3233" "0" "c.3233C>T" "r.(?)" "p.(Ser1078Phe)" "" "0000978455" "00018758" "30" "6108" "0" "6108" "0" "c.6108A>G" "r.(?)" "p.(Gly2036=)" "" "0000978456" "00018758" "30" "4197" "0" "4197" "0" "c.4197A>G" "r.(?)" "p.(Thr1399=)" "" "0000978457" "00018758" "30" "3568" "0" "3568" "0" "c.3568A>G" "r.(?)" "p.(Lys1190Glu)" "" "0000987762" "00018758" "90" "2977" "0" "2978" "0" "c.2977_2978del" "r.(?)" "p.(Glu993Argfs*2)" "10" "0000987851" "00018758" "90" "719" "-1" "5274" "1" "c.(718+1_719-1)_(5274+1_5275-1)del" "r.?" "p.?" "6i_10i" "0000997567" "00018758" "50" "7417" "0" "7417" "0" "c.7417C>G" "r.(?)" "p.(Leu2473Val)" "" "0000997568" "00018758" "30" "7100" "7" "7100" "7" "c.7100+7C>T" "r.(=)" "p.(=)" "" "0000997569" "00018758" "30" "6546" "17" "6546" "17" "c.6546+17C>G" "r.(=)" "p.(=)" "" "0000997570" "00018758" "30" "6166" "0" "6166" "0" "c.6166G>A" "r.(?)" "p.(Val2056Ile)" "" "0000997571" "00018758" "30" "3072" "0" "3074" "0" "c.3072_3074del" "r.(?)" "p.(Asp1024del)" "" "0000997572" "00018758" "30" "2672" "0" "2672" "0" "c.2672T>C" "r.(?)" "p.(Val891Ala)" "" "0000997573" "00018758" "50" "896" "0" "896" "0" "c.896G>T" "r.(?)" "p.(Arg299Leu)" "" "0000997574" "00018758" "30" "499" "-8" "499" "-8" "c.499-8G>T" "r.(=)" "p.(=)" "" "0001007032" "00018758" "90" "6029" "0" "6029" "0" "c.6029A>G" "r.(?)" "p.(Asn2010Ser)" "" "0001011909" "00018758" "90" "1856" "0" "1863" "0" "c.1856_1863del" "r.(?)" "p.(Tyr619Ter)" "" "0001011910" "00018758" "90" "7145" "0" "7145" "0" "c.7145T>G" "r.(?)" "p.(Val2385Gly)" "" "0001011993" "00018758" "90" "15" "0" "17" "0" "c.15_17del" "r.(?)" "p.(Cys5del)" "" "0001011994" "00018758" "90" "15" "0" "17" "0" "c.15_17del" "r.(?)" "p.(Cys5del)" "" "0001014502" "00018758" "10" "6843" "-6" "6843" "-5" "c.6843-6_6843-5dup" "r.spl?" "p.?" "" "0001014503" "00018758" "70" "1857" "0" "1861" "0" "c.1857_1861del" "r.(?)" "p.(Tyr619*)" "" "0001014504" "00018758" "50" "632" "0" "632" "0" "c.632A>G" "r.(?)" "p.(Tyr211Cys)" "" "0001017139" "00018758" "90" "5130" "0" "5130" "0" "c.5130T>A" "r.(?)" "p.(Tyr1710Ter)" "" "0001037248" "00018758" "50" "3905" "0" "3905" "0" "c.3905G>A" "r.(?)" "p.(Arg1302Gln)" "" "0001037249" "00018758" "50" "3664" "0" "3666" "0" "c.3664_3666del" "r.(?)" "p.(Lys1222del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 183 "{{screeningid}}" "{{variantid}}" "0000037114" "0000064239" "0000037115" "0000064240" "0000037116" "0000064241" "0000037117" "0000064242" "0000037118" "0000064243" "0000037119" "0000064244" "0000037120" "0000064245" "0000037121" "0000064246" "0000037122" "0000064247" "0000037123" "0000064248" "0000037124" "0000064249" "0000037125" "0000064250" "0000037126" "0000064251" "0000037127" "0000064252" "0000037128" "0000064253" "0000037129" "0000064254" "0000037130" "0000064255" "0000037131" "0000064256" "0000037132" "0000064257" "0000037133" "0000064258" "0000037134" "0000064259" "0000037135" "0000064260" "0000037136" "0000064261" "0000037137" "0000064262" "0000037138" "0000064263" "0000037139" "0000064264" "0000037140" "0000064265" "0000037141" "0000064266" "0000037142" "0000064267" "0000037143" "0000064268" "0000037144" "0000064269" "0000037145" "0000064270" "0000037146" "0000064271" "0000037147" "0000064272" "0000037148" "0000064273" "0000073265" "0000116889" "0000073265" "0000116891" "0000073270" "0000116892" "0000073270" "0000116893" "0000073273" "0000116896" "0000073275" "0000116902" "0000073275" "0000116903" "0000073346" "0000117006" "0000073346" "0000117012" "0000073366" "0000117038" "0000073367" "0000117039" "0000073368" "0000117040" "0000073369" "0000117041" "0000073370" "0000117042" "0000073370" "0000117127" "0000073371" "0000117043" "0000073371" "0000117128" "0000073371" "0000117129" "0000073371" "0000117130" "0000073372" "0000117044" "0000073372" "0000117131" "0000073373" "0000117045" "0000073374" "0000117046" "0000073374" "0000117132" "0000073375" "0000117047" "0000073376" "0000117048" "0000073377" "0000117049" "0000073378" "0000117050" "0000073379" "0000117051" "0000073379" "0000117133" "0000073380" "0000117052" "0000073380" "0000117134" "0000073381" "0000117053" "0000073382" "0000117054" "0000073383" "0000117055" "0000073384" "0000117056" "0000073385" "0000117057" "0000073386" "0000117058" "0000073387" "0000117059" "0000073388" "0000117060" "0000073389" "0000117061" "0000073390" "0000117062" "0000073391" "0000117063" "0000073392" "0000117064" "0000073393" "0000117065" "0000073394" "0000117066" "0000073395" "0000117067" "0000073396" "0000117068" "0000073397" "0000117069" "0000073398" "0000117070" "0000073399" "0000117071" "0000073400" "0000117072" "0000073401" "0000117073" "0000073402" "0000117074" "0000073403" "0000117075" "0000073404" "0000117076" "0000073405" "0000117077" "0000073406" "0000117078" "0000073407" "0000117079" "0000073408" "0000117080" "0000073408" "0000117135" "0000073409" "0000117081" "0000073410" "0000117082" "0000073411" "0000117083" "0000073412" "0000117084" "0000073413" "0000117085" "0000073414" "0000117086" "0000073415" "0000117087" "0000073416" "0000117088" "0000073417" "0000117089" "0000073418" "0000117090" "0000073419" "0000117091" "0000073419" "0000117136" "0000073420" "0000117092" "0000073421" "0000117093" "0000073422" "0000117094" "0000073423" "0000117095" "0000073424" "0000117096" "0000073425" "0000117097" "0000073426" "0000117098" "0000073427" "0000117099" "0000073428" "0000117100" "0000073429" "0000117101" "0000073430" "0000117102" "0000073431" "0000117103" "0000073432" "0000117104" "0000073433" "0000117105" "0000073434" "0000117106" "0000073435" "0000117107" "0000073436" "0000117108" "0000073437" "0000117109" "0000073438" "0000117110" "0000073439" "0000117111" "0000073440" "0000117112" "0000073441" "0000117113" "0000073442" "0000117114" "0000073443" "0000117115" "0000073444" "0000117116" "0000073445" "0000117117" "0000073446" "0000117118" "0000073447" "0000117119" "0000073448" "0000117120" "0000073449" "0000117121" "0000073450" "0000117122" "0000073451" "0000117123" "0000073452" "0000117124" "0000073453" "0000117125" "0000073454" "0000117126" "0000145292" "0000236391" "0000145292" "0000236392" "0000155809" "0000356889" "0000155810" "0000356890" "0000211266" "0000442736" "0000295944" "0000652633" "0000295945" "0000652634" "0000295946" "0000652635" "0000295947" "0000652636" "0000295948" "0000652637" "0000303793" "0000667188" "0000306358" "0000670046" "0000306359" "0000670047" "0000363496" "0000764191" "0000363496" "0000764192" "0000375673" "0000787024" "0000375673" "0000787522" "0000375675" "0000787026" "0000375676" "0000787027" "0000375823" "0000787174" "0000375972" "0000787598" "0000376041" "0000787392" "0000376042" "0000787393" "0000376043" "0000787394" "0000376043" "0000787611" "0000392258" "0000822511" "0000392258" "0000822512" "0000399304" "0000831661" "0000405360" "0000841448" "0000405361" "0000841449" "0000415756" "0000873643" "0000444928" "0000946864" "0000444929" "0000946865" "0000444930" "0000946866" "0000453225" "0000987762" "0000453225" "0000987851" "0000457406" "0001011909" "0000457406" "0001011993" "0000457407" "0001011910" "0000457407" "0001011994"