### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SACS) # 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}}" "SACS" "spastic ataxia of Charlevoix-Saguenay (sacsin)" "13" "q11" "unknown" "NG_012342.1" "UD_132118498917" "" "https://www.LOVD.nl/SACS" "original SACSIN homepage " "1" "10519" "26278" "604490" "1" "1" "1" "1" "The SACSIN database was initiated at McGill University by Isabelle Thiffault, Jean-Pierre Bouchard, Jean Mathieu and Bernard Brais. In February 2013 the data were moved to a LOVD-powered database\r\n.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SACS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2022-04-23 20:26:25" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024113" "SACS" "transcript variant 1" "001" "NM_014363.5" "" "NP_055178.3" "" "" "" "-615" "15053" "13740" "24007867" "23902962" "00006" "2016-03-18 16:41:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "02076" "SACS" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "AR" "270550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04242" "FRDA" "Friedreich ataxia (FRDA)" "AR" "229300" "" "" "" "00006" "2015-04-21 15:42:04" "00006" "2022-04-08 09:19:52" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05355" "spastic ataxia" "ataxia, spastic" "" "" "" "" "" "00006" "2017-12-21 19:09:00" "" "" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05790" "OFD" "orofaciodigital syndrome (OFD)" "" "" "" "" "" "00006" "2020-07-22 14:56:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SACS" "02076" "SACS" "05355" "SACS" "05356" ## Individuals ## Do not remove or alter this header ## ## Count = 237 "{{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}}" "00059237" "" "" "" "2" "" "01552" "" "family, 2 affecteds" "M" "yes" "(France);Sudan" "" "0" "yes" "" "" "" "00060288" "" "" "" "3" "" "00006" "{PMID:Faruq 2014:24102492}, {DOI:Faruq 2014:10.1111/cge.12279}" "3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs" "F;M" "yes" "India" "" "0" "" "" "" "" "00144620" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00144685" "" "" "" "1" "" "01567" "{PMID:Breckpot 2008:18398442}" "" "M" "?" "Belgium" "" "0" "" "" "" "18398442-Pat1" "00144686" "" "" "" "1" "" "01567" "{PMID:Terracciano 2008:19031088}" "" "M" "no" "Italy" "" "0" "" "" "" "Pt 2-MPG" "00144687" "" "" "" "1" "" "01567" "{PMID:Terracciano 2008:19031088}" "" "F" "no" "Italy" "" "0" "" "" "" "Pt 1-LF" "00144688" "" "" "" "1" "" "01567" "{PMID:Terracciano 2010:20368637}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "II-1" "00144689" "" "" "" "1" "" "01567" "{PMID:Terracciano 2010:20368637}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "III-1" "00144690" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat11" "00144691" "" "" "" "1" "" "01567" "{PMID:McMillan 2009:19208398}" "" "F" "no" "Canada" "" "0" "" "" "" "1" "00144692" "" "" "" "1" "" "01567" "{PMID:Pyle 2013:24180463}" "" "M" "no" "" "" "0" "" "" "" "Pt II-1" "00144693" "" "" "" "1" "" "01567" "{PMID:Pyle 2013:24180463}" "" "" "no" "" "" "0" "" "" "" "Pt II-2" "00144694" "" "" "" "1" "" "01567" "{PMID:Romano 2013:23280630}" "" "?" "?" "" "" "0" "" "" "" "Pt6" "00144695" "" "" "" "1" "" "01567" "{PMID:McElroy 2013:23239789}" "" "F" "?" "" "" "0" "" "" "" "1" "00144696" "" "" "" "1" "" "01567" "{PMID:Baets 2010:20876471}" "" "" "?" "Hungary" "" "0" "" "" "" "20876471-PatSL66.1" "00144697" "" "" "" "1" "" "01567" "{PMID:Baets 2010:20876471}" "" "" "?" "Belgium" "" "0" "" "" "" "20876471-PatPN53.1" "00144698" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat9" "00144699" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat14" "00144700" "" "" "" "1" "" "01567" "{PMID:Haga 2012:22209141}" "" "M" "no" "Japan" "" "0" "" "" "" "Pt1" "00144701" "" "" "" "1" "" "01567" "{PMID:Shimazaki 2013:22268491}" "" "M" "?" "Japan" "" "0" "" "" "" "8" "00144702" "" "" "" "1" "" "01567" "{PMID:Kamada 2008:18484239}" "" "" "?" "Japan" "" "0" "" "" "" "18484239-Pat1" "00144703" "" "" "" "1" "" "01567" "{PMID:Kamada 2008:18484239}" "" "" "?" "Japan" "" "0" "" "" "" "?" "00144704" "" "" "" "7" "" "00006" "{PMID:Vermeer 2008:18465152}" "" "" "yes" "Netherlands" "" "0" "" "" "Dutch" "18465152-Fam07" "00144705" "" "" "" "1" "" "01567" "{PMID:Baets 2010:20876471}" "" "" "?" "Belgium" "" "0" "" "" "" "20876471-PatSL467.1" "00144706" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat6" "00144707" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat7" "00144708" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat17" "00144709" "" "" "" "1" "" "01567" "{PMID:Guernsey 2010:19892370}" "" "" "?" "Canada" "" "0" "" "" "Maritime provinces" "Pt2" "00144710" "" "" "" "1" "" "01567" "{PMID:Guernsey 2010:19892370}" "" "" "" "Canada" "" "0" "" "" "Maritime provinces" "Pt3" "00144711" "" "" "" "1" "" "01567" "{PMID:Guernsey 2010:19892370}" "" "" "?" "Canada" "" "0" "" "" "Maritime provinces" "Pt1" "00144712" "" "" "" "1" "" "01567" "{PMID:Guernsey 2010:19892370}" "" "" "?" "Canada" "" "0" "" "" "Maritime provinces" "Pt4" "00144713" "" "" "" "1" "" "01567" "{PMID:Guernsey 2010:19892370}" "" "" "?" "Canada" "" "0" "" "" "Maritime provinces" "Pt5" "00144714" "" "" "" "1" "" "01567" "{PMID:Guernsey 2010:19892370}" "" "" "?" "Canada" "" "0" "" "" "Maritime provinces" "Pt6" "00144715" "" "" "" "1" "" "01567" "{PMID:Romano 2013:23280630}" "" "?" "?" "" "" "0" "" "" "" "Pt4" "00144716" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "?" "Italy" "" "0" "" "" "" "P624" "00144717" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "?" "Italy" "" "0" "" "" "" "P625" "00144718" "" "" "" "1" "" "01567" "{PMID:Gazulla 2011:21665375}" "" "" "no" "" "" "0" "" "" "" "Pt3" "00144719" "" "" "" "1" "" "01567" "{PMID:Gazulla 2011:21665375}" "" "" "no" "" "" "0" "" "" "" "Pt4" "00144720" "" "" "" "2" "" "01567" "{PMID:Takado 2007:17290461}" "family, 2 affecteds" "M" "yes" "Japan" "" "0" "" "" "" "17290461-Fam1Pat1" "00144721" "" "" "" "2" "" "01567" "{PMID:Takado 2007:17290461}" "family, 2 affecteds" "F" "yes" "Japan" "" "0" "" "" "" "17290461-Fam1Pat2" "00144722" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "no" "Netherlands" "" "0" "" "" "" "18465152-Fam13" "00144723" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "no" "Netherlands" "" "0" "" "" "" "18465152-Fam15" "00144724" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "?" "Italy" "" "0" "" "" "" "22816526-PtP1506" "00144725" "" "" "" "1" "" "01567" "{PMID:Ouyang 2006:16606928}" "" "" "?" "Japan" "" "0" "" "" "" "SACS_15" "00144726" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat10" "00144727" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "" "Italy" "" "0" "" "" "" "22816526-PtPPS232" "00144728" "" "" "" "1" "" "01567" "{PMID:Chen 2013:23726790}" "" "F" "?" "" "" "0" "" "" "" "S1-II:1" "00144729" "" "" "" "1" "" "01567" "{PMID:Chen 2013:23726790}" "" "M" "?" "" "" "0" "" "" "" "S1-II:2" "00144730" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "M" "yes" "Turkey" "" "0" "" "" "" "#10" "00144731" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "M" "no" "Germany" "" "0" "" "" "" "#11" "00144732" "" "" "" "1" "" "01567" "{PMID:Romano 2013:23280630}" "" "F" "?" "" "" "0" "" "" "" "Case 1" "00144733" "" "" "" "1" "" "01567" "{PMID:Romano 2013:23280630}" "" "?" "?" "" "" "0" "" "" "" "Pt8" "00144734" "" "" "" "1" "" "01567" "{PMID:Yu-Wai-Man 2014:24457356}" "" "F" "?" "" "" "0" "" "" "" "Patient E" "00144735" "" "" "" "1" "" "01567" "{PMID:Anheim 2008:18439928}" "" "?" "no" "France" "" "0" "" "" "" "1" "00144736" "" "" "" "1" "" "01567" "{PMID:Anheim 2008:18439928}" "" "?" "no" "France" "" "0" "" "" "" "2" "00144737" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "M" "no" "Macedonia" "" "0" "" "" "" "#6" "00144738" "" "" "" "3" "" "00006" "{PMID:Baets 2010:20876471}" "family, 3 affecteds" "" "yes" "Morocco" "" "0" "" "" "" "Pt NG9.1" "00144739" "" "" "" "1" "" "01567" "{PMID:Gazulla 2011:21665375}" "" "" "no" "" "" "0" "" "" "" "Pt2" "00144740" "" "" "" "1" "" "01567" "{PMID:Ouyang 2006:16606928}" "" "" "?" "Japan" "" "0" "" "" "" "SACS_16" "00144741" "" "" "" "1" "" "01567" "{PMID:Pyle 2012:22751902}" "" "M" "no" "" "" "0" "" "" "" "II-1 (case 1)" "00144742" "" "" "" "1" "" "01567" "{PMID:Pyle 2012:22751902}" "" "F" "no" "" "" "0" "" "" "" "II-2 (case 2)" "00144743" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "no" "Netherlands" "" "0" "" "" "" "18465152-Fam06" "00144744" "" "" "" "1" "" "00006" "{PMID:Vermeer 2008:18465152}" "" "" "yes" "Netherlands" "" "0" "" "" "" "18465152-Fam2" "00144745" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "F" "no" "Germany" "" "0" "" "" "" "#2" "00144746" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "no" "Netherlands" "" "0" "" "" "" "FAM11" "00144747" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "?" "Italy" "" "0" "" "" "" "22806526-PtP994" "00144748" "" "" "" "1" "" "01567" "{PMID: Blumkin 2015:25819952}" "" "" "no" "" "" "0" "" "" "Jewish-Ashkenazi" "Pt1" "00144749" "" "" "" "1" "" "01567" "{PMID:Romano 2013:23280630}" "" "?" "?" "" "" "0" "" "" "" "Pt5" "00144750" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "F" "no" "Germany" "" "0" "" "" "" "#5 index" "00144751" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "F" "no" "Germany" "" "0" "" "" "" "#5 sister" "00144752" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "?" "Italy" "" "0" "" "" "" "A530" "00144753" "" "" "" "1" "" "01567" "" "" "F" "?" "" "" "0" "" "" "" "Pt tg3" "00144754" "" "" "" "1" "" "01567" "" "" "F" "?" "" "" "0" "" "" "" "Pt tg4" "00144755" "" "" "" "2" "" "01567" "{PMID:Baets 2010:20876471}" "family, 2 affecteds" "" "no" "Belgium" "" "0" "" "" "" "20876471-PatPN831.3" "00144756" "" "" "" "1" "" "01567" "{PMID:Shimazaki 2005:15985586}" "" "" "?" "Japan" "" "0" "" "" "" "SACS_14" "00144757" "" "" "" "1" "" "01567" "{PMID:Gazulla 2011:21665375}" "" "" "yes" "" "" "0" "" "" "" "Pt5" "00144758" "" "" "" "1" "" "01567" "{PMID12873855 :El Euch-Fayache 2003}" "" "" "?" "Tunisia" "" "0" "" "" "" "SACS_09" "00144759" "" "" "" "1" "" "01567" "" "" "?" "?" "Australia" "" "0" "" "" "" "pt1" "00144760" "" "" "" "1" "" "01567" "{PMID:Baets 2010:20876471}" "" "" "?" "Belgium" "" "0" "" "" "" "20876471-PatNG8.1" "00144761" "" "" "" "1" "" "01567" "{PMID:Narayanan 2011:21745802}" "" "" "?" "United States" "" "0" "" "" "" "21745802-III-5" "00144762" "" "" "" "1" "" "01567" "{PMID:Narayanan 2011:21745802}" "" "" "?" "United States" "" "0" "" "" "" "21745802-PtIII-6" "00144763" "" "" "" "1" "" "01567" "{PMID12873855 :El Euch-Fayache 2003}" "" "" "?" "Tunisia" "" "0" "" "" "" "SACS_06" "00144764" "" "" "" "1" "" "01567" "{PMID:Shimazaki 2013:22268491}" "" "M" "?" "Japan" "" "0" "" "" "" "7" "00144765" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "M" "no" "Greece" "" "0" "" "" "" "#3 index" "00144766" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "F" "no" "Greece" "" "0" "" "" "" "#3 sister" "00144767" "" "" "" "1" "" "01567" "{PMID:Ouyang 2008:17716690}" "" "" "?" "Belgium" "" "0" "" "" "" "SACS_26" "00144768" "" "" "" "1" "" "01567" "{PMID:Leavitt 2014:25237835}" "" "M" "?" "" "" "0" "" "" "Italian and Irish descent" "pt1" "00144769" "" "" "" "1" "" "01567" "{PMID:Guernsey 2010:19892370}" "" "" "?" "Australia" "" "0" "" "" "" "Pt7" "00144770" "" "" "" "1" "" "01567" "{PMID:Criscuolo 2004:14718706}" "" "" "?" "Italy" "" "0" "" "" "" "SACS_10" "00144771" "" "" "" "1" "" "01567" "{PMID:Okawa 2006:16421146}" "" "" "?" "Japan" "" "0" "" "" "" "SACS_17" "00144772" "" "" "" "1" "" "01567" "{PMID:Grieco 2004:14718707}" "" "" "?" "Italy" "" "0" "" "" "" "SACS_01" "00144773" "" "" "" "1" "" "01567" "{PMID:Grieco 2004:14718707}" "" "" "no" "Italy" "" "0" "" "" "" "Pt1" "00144774" "" "" "" "1" "" "01567" "{PMID:Masciullo 2013:24164681}" "" "F" "?" "Italy" "" "0" "" "" "" "Case 2" "00144775" "" "" "" "1" "" "01567" "{PMID:Masciullo 2013:24164681}" "case 1 in Masciullo 2013 is described as Pt1 in Masciullo 2012, but mutations differ." "M" "?" "Italy" "" "0" "" "" "" "Case 1" "00144776" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "?" "Italy" "" "0" "" "" "" "22816526-PtP1743" "00144777" "" "" "" "1" "" "01567" "{PMID:Richter 2004:15156359}" "" "" "?" "Turkey" "" "0" "" "" "" "SACS_18" "00144778" "" "" "" "1" "" "01567" "{PMID:Vingolo 2011:21410841}" "" "F" "no" "Italy" "" "0" "" "" "" "Pt4_F/34" "00144779" "" "" "" "1" "" "01567" "{PMID:Vingolo 2011:21410841}" "" "M" "no" "Italy" "" "0" "" "" "" "Pt5_M/28" "00144780" "" "" "" "1" "" "01567" "{PMID:Romano 2013:23280630}" "" "?" "?" "" "" "0" "" "" "" "Pt1" "00144781" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat15" "00144782" "" "" "" "1" "" "01567" "" "" "?" "?" "" "" "0" "" "" "" "Pt2" "00144783" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "" "Italy" "" "0" "" "" "" "22816526-PtHMSN2051" "00144784" "" "" "" "1" "" "01567" "{PMID:Baets 2010:20876471}" "" "" "?" "Serbia" "" "0" "" "" "" "20876471-PatPN751.3" "00144785" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat1" "00144786" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat2" "00144787" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat3" "00144788" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat4" "00144789" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat5" "00144790" "" "" "" "1" "" "01567" "{PMID:Romano 2013:23280630}" "" "?" "?" "" "" "0" "" "" "" "Pt3" "00144791" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "?" "Italy" "" "0" "" "" "" "22816526-PtP772" "00144792" "" "" "" "3" "" "01567" "{PMID:Brahim 2011:20798953}" "" "" "?" "Algeria" "" "0" "" "" "" "Fam6/Pt1-2-3" "00144793" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "M" "no" "Germany" "" "0" "" "" "" "#9" "00144794" "" "" "" "1" "" "00006" "{PMID:Vermeer 2008:18465152}" "" "" "yes" "Netherlands" "" "0" "" "" "" "Fam5" "00144795" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "?" "Netherlands" "" "0" "" "" "" "18465152-Fam12" "00144796" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "no" "Netherlands" "" "0" "" "" "" "18465152-Fam03" "00144797" "" "" "" "1" "" "01567" "{PMID:Stevens 2013:23123642}" "" "M" "?" "" "" "0" "" "" "" "1" "00144798" "" "" "" "1" "" "01567" "{PMID:Yamamoto 2005:16198375}" "" "" "?" "Japan" "" "0" "" "" "" "16198375-Pat1" "00144799" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "F" "no" "Germany" "" "0" "" "" "" "#7" "00144800" "" "" "" "1" "" "01567" "{PMID:Anesi 2011:20852969}" "" "" "no" "Italy" "" "0" "" "" "" "Pt2" "00144801" "" "" "" "1" "" "01567" "{PMID:Romano 2013:23280630}" "" "?" "?" "" "" "0" "" "" "" "Pt7" "00144802" "" "" "" "1" "" "01567" "{PMID:Vingolo 2011:21410841}" "" "" "?" "Italy" "" "0" "" "" "" "PPS617" "00144803" "" "" "" "1" "" "01567" "{PMID12873855 :El Euch-Fayache 2003}" "" "" "?" "Tunisia" "" "0" "" "" "" "SACS_02" "00144804" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat12" "00144805" "" "" "" "1" "" "01567" "{PMID12873855 :El Euch-Fayache 2003}" "" "" "?" "Tunisia" "" "0" "" "" "" "?" "00144806" "" "" "" "1" "" "01567" "{PMID:Shimazaki 2007:17349660}" "" "" "?" "Japan" "" "0" "" "" "" "SACS_25" "00144807" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "no" "Netherlands" "" "0" "" "" "" "18465152-Fam04" "00144808" "" "" "" "1" "" "01567" "{PMID:Desserre 2011:21597885}" "" "M" "?" "France" "" "0" "" "" "" "Case 2" "00144809" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French-Italian" "23250129-PatA" "00144810" "" "" "" "2" "" "01567" "{PMID:Hara 2007:17516465}" "family, 2 affecteds" "M" "?" "Japan" "" "0" "" "" "" "17516465-Fam1Pat1" "00144811" "" "" "" "2" "" "01567" "{PMID:Hara 2007:17516465}" "family, 2 affecteds" "F" "?" "Japan" "" "0" "" "" "" "17516465-Fam1Pat2" "00144812" "" "" "" "2" "" "01567" "{PMID:Brahim 2011:20798953}" "" "" "?" "Algeria" "" "0" "" "" "" "Fam5/Pt1-2" "00144813" "" "" "" "1" "" "01567" "" "" "F" "?" "Canada" "" "0" "" "" "" "Pt19" "00144814" "" "" "" "1" "" "01567" "{PMID:Grieco 2004:14718707}" "" "" "?" "Italy" "" "0" "" "" "" "SACS_11" "00144815" "" "" "" "1" "" "01567" "{PMID:Tzoulis 2013:23785840}" "" "M" "?" "Norway" "" "0" "" "" "" "Pt1" "00144816" "" "" "" "1" "" "01567" "{PMID:Tzoulis 2013:23785840}" "" "F" "?" "Norway" "" "0" "" "" "" "Pt2" "00144817" "" "" "" "1" "" "01567" "{PMID:Tzoulis 2013:23785840}" "" "F" "?" "Norway" "" "0" "" "" "" "Pt3" "00144818" "" "" "" "1" "" "01567" "{PMID:Grieco 2004:14718707}" "" "" "?" "Italy" "" "0" "" "" "" "SACS_08" "00144819" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "?" "Italy" "" "0" "" "" "" "P1468" "00144820" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "M" "no" "Germany" "" "0" "" "" "" "#8" "00144821" "" "" "" "2" "" "01567" "{PMID:Brahim 2011:20798953}" "" "" "?" "Algeria" "" "0" "" "" "" "Fam3/Pt1-2" "00144822" "" "" "" "1" "" "01567" "{PMID:Baets 2010:20876471}" "" "" "?" "Belgium" "" "0" "" "" "" "20876471-PatNG17.1" "00144823" "" "" "" "1" "" "01567" "" "" "M" "?" "Canada" "" "0" "" "" "" "Pt tg1" "00144824" "" "" "" "1" "" "01567" "" "" "M" "?" "Canada" "" "0" "" "" "" "Pt tg2" "00144825" "" "" "" "1" "" "01567" "{PMID:Engert 2000:10655055}" "" "" "?" "Canada" "" "0" "" "" "French" "SACS_03" "00144826" "" "" "" "1" "" "01567" "{PMID:Anheim 2008:18439928}" "" "" "?" "France" "" "0" "" "" "" "SACS_46" "00144827" "" "" "" "1" "" "01567" "{PMID:Criscuolo 2005:16007637}" "" "" "?" "Spain" "" "0" "" "" "" "SACS_24" "00144828" "" "" "" "1" "" "01567" "{PMID:Garcia 2008:17683082}" "" "M" "yes" "" "" "0" "" "" "" "Pt1" "00144829" "" "" "" "1" "" "01567" "{PMID:Garcia 2008:17683082}" "" "F" "yes" "Spain" "" "0" "" "" "" "Pt2" "00144830" "" "" "" "1" "" "01567" "{PMID:Desserre 2011:21597885}" "" "F" "?" "France" "" "0" "" "" "" "Case 1" "00144831" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "yes" "Netherlands" "" "0" "" "" "" "18465152-Fam09" "00144832" "" "" "" "1" "" "01567" "{PMID:Hara 2005:15486997}" "" "" "?" "Japan" "" "0" "" "" "" "SACS_19" "00144833" "" "" "" "1" "" "01567" "{PMID:Engert 2000:10655055}" "" "" "?" "Canada" "" "0" "" "" "French" "SACS_07" "00144834" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat8" "00144835" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat13" "00144836" "" "" "" "1" "" "01567" "{PMID:Engert 2000:10655055}" "" "" "?" "Canada" "" "0" "" "" "Québec" "?" "00144837" "" "" "" "1" "" "01567" "" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pt1" "00144838" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "F" "yes" "Turkey" "" "0" "" "" "" "#1 index" "00144839" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "F" "yes" "Turkey" "" "0" "" "" "" "#1 sister" "00144840" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "M" "?" "Canada" "" "0" "" "" "" "Pt" "00144841" "" "" "" "1" "" "01567" "{PMID:Ogawa 2004:14718708}" "" "" "?" "Japan" "" "0" "" "" "" "SACS_04" "00144842" "" "" "" "1" "" "01567" "{PMID:Shimazaki 2013:22268491}" "" "M" "?" "Japan" "" "0" "" "" "" "3" "00144843" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "no" "" "" "0" "" "" "" "18465152-Fam16" "00144844" "" "" "" "2" "" "01567" "{PMID:Brahim 2011:20798953}" "" "" "?" "Algeria" "" "0" "" "" "" "Fam2/Pt1-2" "00144845" "" "" "" "1" "" "01567" "{PMID:Richter 2004:15156359}" "" "" "?" "Turkey" "" "0" "" "" "" "SACS_20" "00144846" "" "" "" "4" "" "01567" "{PMID:Baets 2010:20876471}" "family, 4 affecteds" "" "no" "Belgium" "" "0" "" "" "" "20876471-PatPN26.1" "00144847" "" "" "" "1" "" "01567" "{PMID:Baets 2010:20876471}" "" "" "?" "Belgium" "" "0" "" "" "" "20876471-PatPN587.1" "00144848" "" "" "" "1" "" "01567" "{PMID:Gregianin 2013:23800155}" "" "M" "yes" "Italy" "" "0" "" "" "" "II-3" "00144849" "" "" "" "1" "" "01567" "{PMID:Gregianin 2013:23800155}" "" "M" "yes" "Italy" "" "0" "" "" "" "II-4" "00144850" "" "" "" "1" "" "01567" "{PMID:Masciullo 2008:18604465}" "" "M" "?" "Italy" "" "0" "" "" "" "?" "00144851" "" "" "" "1" "" "01567" "{PMID:Thiffault 2012:23250129}" "" "" "?" "Canada" "" "0" "" "" "French Canadian" "23250129-Pat16" "00144852" "" "" "" "1" "" "01567" "{PMID:Baets 2010:20876471}" "" "" "no" "Italy" "" "0" "" "" "" "Pt2" "00144853" "" "" "" "1" "" "01567" "{PMID:Bouhlal 2008:18569450}" "" "" "?" "Tunisia" "" "0" "" "" "" "SACS_60" "00144854" "" "" "" "1" "" "01567" "{PMID:Bouhlal 2008:18569450}" "" "M" "?" "Tunisia" "" "0" "" "" "" "Pt VII:5" "00144855" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "M" "yes" "Turkey" "" "0" "" "" "" "#4 index" "00144856" "" "" "" "1" "" "01567" "{PMID:Synofzik 2013:23497566}" "" "M" "yes" "Turkey" "" "0" "" "" "" "#4 brother" "00144857" "" "" "" "1" "" "01567" "{PMID:Liew 2013:23699708}" "" "F" "?" "" "" "0" "" "" "" "I-3" "00144858" "" "" "" "1" "" "01567" "{PMID:Guernsey 2010:19892370}" "" "" "?" "Australia" "" "0" "" "" "" "Pt8" "00144859" "" "" "" "1" "" "01567" "{PMID:Richter 2004:15156359}" "" "" "?" "Turkey" "" "0" "" "" "" "SACS_21" "00144860" "" "" "" "1" "" "01567" "{PMID:Miyatake 2012:22892508}" "" "" "yes" "Japan" "" "0" "" "" "" "22892508-Pt1" "00144861" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "no" "Netherlands" "" "0" "" "" "" "18465152-Fam01" "00144862" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "yes" "Netherlands" "" "0" "" "" "" "18465152-Fam08" "00144863" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "?" "Netherlands" "" "0" "" "" "" "18465152-Fam10" "00144864" "" "" "" "1" "" "01567" "{PMID:Vermeer 2008:18465152}" "" "" "no" "Netherlands" "" "0" "" "" "" "18465152-Fam14" "00144865" "" "" "" "1" "" "01567" "{PMID12873855 :El Euch-Fayache 2003}" "" "" "?" "Tunisia" "" "0" "" "" "" "SACS_05" "00144866" "" "" "" "4" "" "01567" "{PMID:Brahim 2011:20798953}" "" "" "?" "Algeria" "" "0" "" "" "" "Fam4/pt1 to 4" "00144867" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "" "Italy" "" "0" "" "" "" "22816526-PtP978" "00144868" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "" "Italy" "" "0" "" "" "" "22816526-PtP1824" "00144869" "" "" "" "1" "" "01567" "{PMID:Mignarri 2014:24318559}" "" "M" "?" "" "" "0" "" "" "" "Case 3" "00144870" "" "" "" "1" "" "01567" "{PMID:Mignarri 2014:24318559}" "" "F" "?" "" "" "0" "" "" "" "Case 4" "00144871" "" "" "" "1" "" "01567" "{PMID:Bouhlal 2009:19529988}" "" "M" "?" "Tunisia" "" "0" "" "" "" "IV:1" "00144872" "" "" "" "4" "" "01567" "{PMID:Brahim 2011:20798953}" "" "" "?" "Tunisia" "" "0" "" "" "" "Fam1/Pt1to4" "00144873" "" "" "" "1" "" "01567" "{PMID:Bouhlal 2009:19529988}" "" "F" "?" "Tunisia" "" "0" "" "" "" "IV:2" "00144874" "" "" "" "1" "" "01567" "{PMID:Bouhlal 2009:19529988}" "" "M" "yes" "Tunisia" "" "0" "" "" "" "V:1" "00144875" "" "" "" "1" "" "01567" "{PMID:Bouhlal 2009:19529988}" "" "M" "yes" "Tunisia" "" "0" "" "" "" "V:2" "00144876" "" "" "" "1" "" "01567" "{PMID:Yamamoto 2006:16944349}" "" "" "?" "Japan" "" "0" "" "" "" "SACS_23" "00144877" "" "" "" "1" "" "01567" "{PMID:Prodi 2013:22816526}" "" "" "?" "Italy" "" "0" "" "" "" "P1038" "00144878" "" "" "" "1" "" "01567" "{PMID:Baets 2010:20876471}" "" "" "?" "Belgium" "" "0" "" "" "" "20876471-PatSL434.1" "00144879" "" "" "" "1" "" "01567" "{PMID:Anesi 2011:20852969}" "" "" "no" "Italy" "" "0" "" "" "" "Pt1" "00144880" "" "" "" "1" "" "01567" "{PMID:Bouhlal 2011:21416271}" "" "M" "?" "Tunisia" "" "0" "" "" "" "PtIV:1" "00144881" "" "" "" "1" "" "01567" "{PMID:Bouhlal 2011:21416271}" "" "M" "?" "Tunisia" "" "0" "" "" "" "PtIV:2" "00144882" "" "" "" "1" "" "01567" "{PMID:Gazulla 2011:21665375}" "" "" "no" "" "" "0" "" "" "" "Pt1" "00144883" "" "" "" "1" "" "01567" "{PMID:Gazulla 2011:21665375}" "" "M" "?" "" "" "0" "" "" "" "Case 2" "00144884" "" "" "" "1" "" "01567" "{PMID:Richter 2004:15156359}" "" "" "?" "Turkey" "" "0" "" "" "" "SACS_22" "00150159" "" "" "" "3" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB3483" "00154975" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00155229" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29311637-Fam3" "00222965" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00249739" "" "" "" "2" "" "00006" "{PMID:Rafehi 2019:31230722}" "2-generation family, 2 affected (2F), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "Europe" "CANVAS17" "00290857" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290858" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290859" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290860" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290861" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290862" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290863" "" "" "" "136" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304395" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304396" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306900" "" "" "" "2" "" "00006" "{DOI:Mascibroda 2020:10.1101/2020.07.20.209130}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Jordan" "" "0" "" "" "" "Fam1PatII4" "00306901" "" "" "00306900" "1" "" "00006" "sister" "" "F" "yes" "Jordan" "" "0" "" "" "" "Fam1PatII5" "00307149" "" "" "" "1" "" "00006" "{PMID:Krygier 2019:30548255}" "2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents" "F" "" "Poland" "" "0" "" "" "" "Pat8 (II5)" "00374623" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2854" "00374829" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3377" "00374830" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3405" "00399246" "" "" "" "1" "" "00006" "{PMID:Martin 2017:29220673}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "" "Pat5" "00404116" "" "" "" "1" "" "00435" "" "" "M" "" "Egypt" "" "" "" "" "" "" "00404121" "" "" "" "1" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404930" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam12" "00408674" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat23" "00408679" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "yes" "France" "" "0" "" "" "" "Pat62" "00408705" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "" "" "" "France" "" "0" "" "" "" "Pat07" "00443414" "" "" "" "3" "" "00006" "{PMID:Saadi 2023:37510308}" "5-generation family, affected sisters/brother, unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamBPatV1" "00443415" "" "" "00443414" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamBPatV2" "00443416" "" "" "00443414" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamBPatV3" "00449743" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00452265" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "0" "" "" "white" "" "00455802" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat42" "00455852" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat92" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 237 "{{individualid}}" "{{diseaseid}}" "00059237" "02076" "00060288" "04242" "00144620" "00198" "00144685" "02076" "00144686" "05355" "00144687" "05355" "00144688" "02076" "00144689" "02076" "00144690" "02076" "00144691" "02076" "00144692" "05355" "00144693" "05355" "00144694" "05355" "00144695" "05355" "00144696" "02076" "00144697" "02076" "00144698" "02076" "00144699" "02076" "00144700" "05355" "00144701" "05355" "00144702" "02076" "00144703" "02076" "00144704" "05356" "00144705" "02076" "00144706" "02076" "00144707" "02076" "00144708" "02076" "00144709" "05356" "00144710" "05356" "00144711" "05356" "00144712" "05356" "00144713" "05356" "00144714" "05356" "00144715" "05355" "00144716" "05355" "00144717" "05355" "00144718" "05355" "00144719" "05355" "00144720" "02076" "00144721" "02076" "00144722" "02076" "00144723" "02076" "00144724" "02076" "00144725" "02076" "00144726" "02076" "00144727" "02076" "00144728" "05355" "00144729" "05355" "00144730" "05355" "00144731" "05355" "00144732" "05355" "00144733" "05355" "00144734" "05355" "00144735" "02076" "00144736" "05355" "00144737" "05355" "00144738" "05356" "00144739" "05355" "00144740" "02076" "00144741" "05355" "00144742" "05355" "00144743" "02076" "00144744" "05356" "00144745" "05355" "00144746" "05356" "00144747" "02076" "00144748" "02076" "00144749" "05355" "00144750" "05355" "00144751" "05355" "00144752" "05355" "00144753" "05355" "00144754" "05355" "00144755" "02076" "00144756" "05356" "00144757" "05355" "00144758" "02076" "00144759" "05355" "00144760" "02076" "00144761" "02076" "00144762" "02076" "00144763" "02076" "00144764" "05355" "00144765" "05355" "00144766" "05355" "00144767" "02076" "00144768" "05355" "00144769" "05356" "00144770" "02076" "00144771" "02076" "00144772" "02076" "00144773" "05355" "00144774" "05355" "00144775" "05355" "00144776" "02076" "00144777" "02076" "00144778" "05355" "00144779" "05355" "00144780" "05355" "00144781" "02076" "00144782" "05355" "00144783" "02076" "00144784" "02076" "00144785" "02076" "00144786" "02076" "00144787" "02076" "00144788" "02076" "00144789" "02076" "00144790" "05355" "00144791" "02076" "00144792" "02076" "00144793" "05355" "00144794" "02076" "00144795" "02076" "00144796" "02076" "00144797" "05355" "00144798" "05355" "00144799" "05355" "00144800" "02076" "00144801" "05355" "00144802" "05355" "00144803" "02076" "00144804" "02076" "00144805" "02076" "00144806" "05355" "00144807" "02076" "00144808" "05355" "00144809" "02076" "00144810" "02076" "00144811" "02076" "00144812" "02076" "00144813" "05355" "00144814" "02076" "00144815" "05355" "00144816" "05355" "00144817" "05355" "00144818" "02076" "00144819" "05355" "00144820" "05355" "00144821" "02076" "00144822" "02076" "00144823" "05355" "00144824" "05355" "00144825" "02076" "00144826" "02076" "00144827" "02076" "00144828" "05355" "00144829" "05355" "00144830" "05355" "00144831" "02076" "00144832" "05356" "00144833" "02076" "00144834" "02076" "00144835" "02076" "00144836" "02076" "00144837" "02076" "00144838" "05355" "00144839" "05355" "00144840" "05355" "00144841" "02076" "00144842" "05355" "00144843" "02076" "00144844" "02076" "00144845" "02076" "00144846" "02076" "00144847" "02076" "00144848" "05355" "00144849" "05355" "00144850" "05355" "00144851" "02076" "00144852" "05355" "00144853" "05356" "00144854" "05355" "00144855" "05355" "00144856" "05355" "00144857" "05355" "00144858" "05356" "00144859" "02076" "00144860" "02076" "00144861" "02076" "00144862" "02076" "00144863" "02076" "00144864" "02076" "00144865" "02076" "00144866" "05355" "00144867" "02076" "00144868" "02076" "00144869" "05355" "00144870" "05355" "00144871" "02076" "00144872" "05355" "00144873" "05355" "00144874" "05355" "00144875" "05355" "00144876" "05356" "00144877" "05355" "00144878" "02076" "00144879" "02076" "00144880" "02076" "00144881" "05355" "00144882" "05355" "00144883" "05355" "00144884" "02076" "00150159" "00198" "00154975" "00198" "00155229" "00259" "00222965" "00198" "00249739" "05356" "00290857" "00198" "00290858" "00198" "00290859" "00198" "00290860" "00198" "00290861" "00198" "00290862" "00198" "00290863" "00198" "00304395" "00198" "00304396" "00198" "00306900" "05790" "00306901" "05790" "00307149" "05356" "00374623" "00198" "00374829" "00198" "00374830" "00198" "00399246" "00139" "00404116" "02076" "00404121" "02076" "00404930" "05123" "00408674" "00198" "00408679" "00198" "00408705" "00325" "00443414" "00198" "00443415" "00198" "00443416" "00198" "00449743" "05356" "00452265" "05356" "00455802" "00198" "00455852" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00259, 00325, 02076, 04242, 05123, 05355, 05356, 05790 ## Count = 228 "{{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}}" "0000045742" "02076" "00059237" "01552" "Familial, autosomal recessive" "38y" "ataxia, lower limb spasticity, muscle wasting, dysarthria, congnitive impairment, loss of vibration sensation" "11y" "" "" "" "" "" "" "" "" "" "" "0000046786" "04242" "00060288" "00006" "Familial, autosomal recessive" "" "Friedreich ataxia-like, see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000117361" "00198" "00144620" "01807" "Unknown" "" "Lower limb spasticity (HP:0002061); Gait disturbance (HP:0001288); Polyneuropathy (HP:0001271); Cerebellar vermis atrophy (HP:0006855)" "" "" "" "" "" "" "" "" "" "" "" "0000117419" "02076" "00144685" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117420" "05355" "00144686" "01567" "Familial, autosomal recessive" "" "hearing loss" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117421" "05355" "00144687" "01567" "Familial, autosomal recessive" "" "hearing loss" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117422" "02076" "00144688" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117423" "02076" "00144689" "01567" "Familial" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117424" "02076" "00144690" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117425" "02076" "00144691" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117426" "05355" "00144692" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117427" "05355" "00144693" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117428" "05355" "00144694" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117429" "05355" "00144695" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117430" "02076" "00144696" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117431" "02076" "00144697" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117432" "02076" "00144698" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117433" "02076" "00144699" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117434" "05355" "00144700" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117435" "05355" "00144701" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117436" "02076" "00144702" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117437" "02076" "00144703" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117438" "05356" "00144704" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117439" "02076" "00144705" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117440" "02076" "00144706" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117441" "02076" "00144707" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117442" "02076" "00144708" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117443" "05356" "00144709" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117444" "05356" "00144710" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117445" "05356" "00144711" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117446" "05356" "00144712" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117447" "05356" "00144713" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117448" "05356" "00144714" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117449" "05355" "00144715" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117450" "05355" "00144716" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117451" "05355" "00144717" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117452" "05355" "00144718" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117453" "05355" "00144719" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117454" "02076" "00144720" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117455" "02076" "00144721" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117456" "02076" "00144722" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117457" "02076" "00144723" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117458" "02076" "00144724" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117459" "02076" "00144725" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117460" "02076" "00144726" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117461" "02076" "00144727" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117462" "05355" "00144728" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117463" "05355" "00144729" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117464" "05355" "00144730" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117465" "05355" "00144731" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117466" "05355" "00144732" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117467" "05355" "00144733" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117468" "05355" "00144734" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117469" "02076" "00144735" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117470" "05355" "00144736" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117471" "05355" "00144737" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117472" "05356" "00144738" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117473" "05355" "00144739" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117474" "02076" "00144740" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117475" "05355" "00144741" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117476" "05355" "00144742" "01567" "Familial, autosomal recessive" "" "histology FP" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117477" "02076" "00144743" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117478" "05356" "00144744" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117479" "05355" "00144745" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117480" "05356" "00144746" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117481" "02076" "00144747" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117482" "02076" "00144748" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117483" "05355" "00144749" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117484" "05355" "00144750" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117485" "05355" "00144751" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117486" "05355" "00144752" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117487" "05355" "00144753" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117488" "05355" "00144754" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117489" "02076" "00144755" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117490" "05356" "00144756" "01567" "Unknown" "" "early onset" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117491" "05355" "00144757" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117492" "02076" "00144758" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117493" "05355" "00144759" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117494" "02076" "00144760" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117495" "02076" "00144761" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117496" "02076" "00144762" "01567" "Familial" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117497" "02076" "00144763" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117498" "05355" "00144764" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117499" "05355" "00144765" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117500" "05355" "00144766" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117501" "02076" "00144767" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117502" "05355" "00144768" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117503" "05356" "00144769" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117504" "02076" "00144770" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117505" "02076" "00144771" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117506" "02076" "00144772" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117507" "05355" "00144773" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117508" "05355" "00144774" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117509" "05355" "00144775" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117510" "02076" "00144776" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117511" "02076" "00144777" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117512" "05355" "00144778" "01567" "Unknown" "" "" "2y" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117513" "05355" "00144779" "01567" "Unknown" "" "" "2y" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117514" "05355" "00144780" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117515" "02076" "00144781" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117516" "05355" "00144782" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117517" "02076" "00144783" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117518" "02076" "00144784" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117519" "02076" "00144785" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117520" "02076" "00144786" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117521" "02076" "00144787" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117522" "02076" "00144788" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117523" "02076" "00144789" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117524" "05355" "00144790" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117525" "02076" "00144791" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117526" "02076" "00144792" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117527" "05355" "00144793" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117528" "02076" "00144794" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117529" "02076" "00144795" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117530" "02076" "00144796" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117531" "05355" "00144797" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117532" "05355" "00144798" "01567" "Unknown" "" "early onset" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117533" "05355" "00144799" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117534" "02076" "00144800" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117535" "05355" "00144801" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117536" "05355" "00144802" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117537" "02076" "00144803" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117538" "02076" "00144804" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117539" "02076" "00144805" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117540" "05355" "00144806" "01567" "Unknown" "" "no leg spasticity" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "ataxia, spastic" "" "0000117541" "02076" "00144807" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117542" "05355" "00144808" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117543" "02076" "00144809" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117544" "02076" "00144810" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117545" "02076" "00144811" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117546" "02076" "00144812" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117547" "05355" "00144813" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117548" "02076" "00144814" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117549" "05355" "00144815" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117550" "05355" "00144816" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117551" "05355" "00144817" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117552" "02076" "00144818" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117553" "05355" "00144819" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117554" "05355" "00144820" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117555" "02076" "00144821" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117556" "02076" "00144822" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117557" "05355" "00144823" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117558" "05355" "00144824" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117559" "02076" "00144825" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117560" "02076" "00144826" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117561" "02076" "00144827" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117562" "05355" "00144828" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117563" "05355" "00144829" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117564" "05355" "00144830" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117565" "02076" "00144831" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117566" "05356" "00144832" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117567" "02076" "00144833" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117568" "02076" "00144834" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117569" "02076" "00144835" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117570" "02076" "00144836" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117571" "02076" "00144837" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117572" "05355" "00144838" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117573" "05355" "00144839" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117574" "05355" "00144840" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117575" "02076" "00144841" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117576" "05355" "00144842" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117577" "02076" "00144843" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117578" "02076" "00144844" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117579" "02076" "00144845" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117580" "02076" "00144846" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117581" "02076" "00144847" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117582" "05355" "00144848" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117583" "05355" "00144849" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117584" "05355" "00144850" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117585" "02076" "00144851" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117586" "05355" "00144852" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117587" "05356" "00144853" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117588" "05355" "00144854" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117589" "05355" "00144855" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117590" "05355" "00144856" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117591" "05355" "00144857" "01567" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117592" "05356" "00144858" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117593" "02076" "00144859" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117594" "02076" "00144860" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117595" "02076" "00144861" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117596" "02076" "00144862" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117597" "02076" "00144863" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117598" "02076" "00144864" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117599" "02076" "00144865" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117600" "05355" "00144866" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117601" "02076" "00144867" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117602" "02076" "00144868" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117603" "05355" "00144869" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117604" "05355" "00144870" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117605" "02076" "00144871" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117606" "05355" "00144872" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117607" "05355" "00144873" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117608" "05355" "00144874" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117609" "05355" "00144875" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117610" "05356" "00144876" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000117611" "05355" "00144877" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117612" "02076" "00144878" "01567" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type, autosomal recessive (ARSACS)" "" "0000117613" "02076" "00144879" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117614" "02076" "00144880" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000117615" "05355" "00144881" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117616" "05355" "00144882" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117617" "05355" "00144883" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic" "" "0000117618" "02076" "00144884" "01567" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ataxia, spastic, Charlevoix-Saguenay type (SACS)" "" "0000122561" "00198" "00150159" "00006" "Familial, autosomal recessive" "" "intellectual diability, cerebellar taxia" "" "" "" "" "" "" "" "" "" "" "" "0000127707" "00198" "00154975" "01807" "Unknown" "" "Spastic ataxia (HP:0002497); Cerebellar atrophy (HP:0001272); Polyneuropathy (HP:0001271)" "" "" "" "" "" "" "" "" "" "" "" "0000127757" "00259" "00155229" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity" "" "" "" "" "" "" "" "" "" "obesity" "" "0000168079" "00198" "00222965" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Ataxia (HP:0001251)" "" "" "" "" "" "" "" "" "" "" "" "0000188609" "05356" "00249739" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SACS" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "" "0000232727" "05790" "00306900" "00006" "Familial, autosomal recessive" "17y" "cleft/high arched palate; no tongue anomalies/hamartoma/lipoma; teeth anomalies; micrognathia; microcephaly; ocular hypertelorism; bilateral median cleft upper lip; broad nasal bridge; abnormal nasal tip; low set ears; no syndactyly hands; clinodactyly hands; pre-polydactyly hands; no bifid/duplicated thumb; no syndactyly feet; clinodactyly feet; no polydactyly feet; no bilateral hallux duplication; no lower stature/short humerus; no pectus escavatum; no absence of central incisors; supernumerary teeth; no oral frenulae; long philtrum; thick septum; epiglottis anomaly; no central Y-shaped metacarpa; no abnormality central nervous system; speech abnormality; congenital heart defect; conductive hearing loss; epicanthal fold; respiratory tract infections and cough; no alveolar pulmonary stenosis; no omega shaped epiglottis; underdeveloped aryepiglottic folds; hypertrophied false vocal cords; presence of single central upper incisors; racemose angioma; crowded optic disc; myringosclerosis; opacification of mastoid and ethmoid air cells; rough and sparse hair; bilateral simian creases; short and broad fingers" "" "" "" "" "" "" "" "" "" "orofaciodigital syndrome" "" "0000232728" "05790" "00306901" "00006" "Familial, autosomal recessive" "14y" "cleft/high arched palate; no tongue anomalies/hamartoma/lipoma; teeth anomalies; micrognathia; microcephaly; ocular hypertelorism; bilateral median cleft upper lip; broad nasal bridge; abnormal nasal tip; low set ears; no syndactyly hands; no clinodactyly hands; no pre-polydactyly hands; no bifid/duplicated thumb; no syndactyly feet; no clinodactyly feet; no polydactyly feet; no bilateral hallux duplication; no lower stature/short humerus; no pectus escavatum; no absence of central incisors; supernumerary teeth; no oral frenulae; long philtrum; thick septum; epiglottis anomaly; no central Y-shaped metacarpa; no abnormality central nervous system; speech abnormality; no congenital heart defect; conductive hearing loss; epicanthal fold; respiratory tract infections and cough; alveolar pulmonary stenosis; omega shaped epiglottis; underdeveloped aryepiglottic folds; hypertrophied false vocal cords; presence of single central upper incisors; racemose angioma; crowded optic disc; myringosclerosis; adenoid hypertrophy; rough and sparse hair; bilateral simian creases; short and broad fingers" "" "" "" "" "" "" "" "" "" "orofaciodigital syndrome" "" "0000232954" "05356" "00307149" "00006" "Familial, autosomal recessive" "33y" "peripheral sensorimotor neuropathy, pyramidal signs; MRI brain cerebellar atrophy, linear T2‐hypointensities pons, generalized cortical atrophy, narrowing corpus callosum, atrophy cervical spinal cord" "02y" "" "" "" "" "" "" "" "" "ataxia" "" "0000269833" "00198" "00374623" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000270039" "00198" "00374829" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, spasticity, neuropathy" "" "0000270040" "00198" "00374830" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000292358" "00139" "00399246" "00006" "Isolated (sporadic)" "04y" "see paper; ..., prenatal period unremarkable, birth 40wweight 4,150 g (95P), length 53 cm (72P), OFC 36 cm (80P); neonatal unremarkable; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech single words, few two-word sentences; MRI brain normal; lack of distance toward adults, reduced interaction with other children, strong searching for physical contact, mood changes with aggressive behavior and attention deficits; muscle unremarkable; walking; no seizures; no craniofacial dysmorphism; EEG normal; hyporeflexia, simian crease on both hands" "" "" "" "" "" "" "" "" "NEDSGA" "intellectual disability" "" "0000296705" "02076" "00404116" "00435" "Familial, autosomal recessive" "27y" "30-y male with progressive cerebellar ataxia, weakness and wasting of upper and lower limbs marked in hands and feet, stocking and glove hypesthesia, deep sensory loss, Babinski sign and bilateral pes cavus" "22y" "" "" "" "" "" "" "" "SACs" "spinocerebellar ataxia" "" "0000296710" "02076" "00404121" "00435" "Familial, autosomal recessive" "14y" "18-y male with progressive ataxia, peripheral neuropathy, Babinski sign, pes cavus and mental retardation. He had delayed physical and mental development." "08y" "" "" "" "" "" "" "" "SACs" "SCA" "" "0000297488" "05123" "00404930" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000300792" "00198" "00408674" "00006" "Familial, autosomal recessive" "" "" "2y" "" "" "" "" "" "" "" "SACS" "cerebellar ataxia" "" "0000300797" "00198" "00408679" "00006" "Unknown" "" "" "4y" "" "" "" "" "" "" "" "SACS" "cerebellar ataxia" "" "0000300824" "00325" "00408705" "00006" "Unknown" "" "" "03y" "" "" "" "" "" "" "" "" "spastic paraplegia" "" "0000332755" "00198" "00443414" "00006" "Familial, autosomal recessive" "" "ataxic gait, delayed developmental milestones" "" "" "" "" "" "" "" "" "SACS" "spastic ataxia" "" "0000332756" "00198" "00443415" "00006" "Familial, autosomal recessive" "" "ataxic gait, delayed developmental milestones" "" "" "" "" "" "" "" "" "SACS" "spastic ataxia" "" "0000332757" "00198" "00443416" "00006" "Familial, autosomal recessive" "" "ataxic gait, delayed developmental milestones" "" "" "" "" "" "" "" "" "SACS" "spastic ataxia" "" "0000338904" "05356" "00449743" "03544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "ARSACS" "spinocerebellar ataxia" "" "0000340868" "05356" "00452265" "03544" "Isolated (sporadic)" "" "HP:0002180, HP:0009055, HP:0001270" "" "" "" "" "" "" "" "" "ARSACS" "ataxia" "" "0000344335" "00198" "00455802" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SACS" "neurogenetic diseases" "" "0000344385" "00198" "00455852" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SACS" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 237 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059224" "00059237" "1" "01552" "01552" "2016-03-04 12:35:46" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060277" "00060288" "1" "00006" "00006" "2016-03-27 18:32:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000145477" "00144620" "0" "01807" "01807" "2017-12-18 12:59:27" "" "" "SEQ" "DNA" "" "" "0000145542" "00144685" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2014-01-20 17:32:32" "arrayCGH" "DNA" "" "" "0000145543" "00144686" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2014-01-20 22:46:11" "arrayCGH" "DNA" "" "" "0000145544" "00144687" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2014-01-20 22:40:42" "arrayCGH" "DNA" "" "" "0000145545" "00144688" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2014-01-20 19:40:56" "arrayCGH" "DNA" "" "" "0000145546" "00144689" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2014-01-20 19:36:37" "arrayCGH" "DNA" "" "" "0000145547" "00144690" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "arraySNP;SEQ" "DNA" "" "" "0000145548" "00144691" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2014-01-20 22:00:14" "arraySNP" "DNA" "" "" "0000145549" "00144692" "1" "01567" "01568" "2013-12-05 16:53:45" "" "" "arrayCGH" "DNA" "" "" "0000145550" "00144693" "1" "01567" "01568" "2013-12-05 16:56:54" "" "" "arrayCGH" "DNA" "" "" "0000145551" "00144694" "1" "01567" "01568" "2014-01-15 20:03:57" "" "" "SEQ" "DNA" "" "" "0000145552" "00144695" "1" "01567" "01568" "2014-01-15 22:20:00" "01568" "2014-01-15 22:20:48" "arrayCNV" "DNA" "" "" "0000145553" "00144696" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-09 18:15:02" "PCRm" "DNA" "" "" "0000145554" "00144697" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-09 18:10:41" "SEQ" "DNA" "" "" "0000145555" "00144698" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145556" "00144699" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145557" "00144700" "1" "01567" "01568" "2013-12-05 17:42:56" "" "" "SEQ" "DNA" "" "" "0000145558" "00144701" "1" "01567" "01568" "2013-12-05 21:09:22" "" "" "SEQ" "DNA" "" "" "0000145559" "00144702" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145560" "00144703" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145561" "00144704" "1" "00006" "01567" "2013-04-08 22:14:41" "01567" "2013-04-09 17:31:36" "SEQ" "DNA" "" "" "0000145562" "00144705" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-09 18:17:44" "SEQ" "DNA" "" "" "0000145563" "00144706" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145564" "00144707" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145565" "00144708" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145566" "00144709" "1" "01567" "01567" "2013-03-18 19:22:03" "01567" "2013-03-18 19:42:34" "SEQ" "DNA" "" "" "0000145567" "00144710" "1" "01567" "01567" "2013-03-18 19:25:25" "01567" "2013-03-18 19:43:32" "SEQ" "DNA" "" "" "0000145568" "00144711" "1" "01567" "01567" "2013-03-18 19:29:54" "01567" "2013-03-18 19:44:12" "SEQ" "DNA" "" "" "0000145569" "00144712" "1" "01567" "01567" "2013-03-18 19:35:06" "" "" "SEQ" "DNA" "" "" "0000145570" "00144713" "1" "01567" "01567" "2013-03-18 19:37:52" "" "" "SEQ" "DNA" "" "" "0000145571" "00144714" "1" "01567" "01567" "2013-03-18 19:40:54" "" "" "SEQ" "DNA" "" "" "0000145572" "00144715" "1" "01567" "01568" "2014-01-15 19:42:52" "" "" "SEQ" "DNA" "" "" "0000145573" "00144716" "1" "01567" "01568" "2013-12-09 18:40:51" "" "" "SEQ" "DNA" "" "" "0000145574" "00144717" "1" "01567" "01568" "2013-12-09 18:43:34" "" "" "SEQ" "DNA" "" "" "0000145575" "00144718" "1" "01567" "01568" "2013-12-09 22:41:59" "" "" "SEQ" "DNA" "" "" "0000145576" "00144719" "1" "01567" "01568" "2013-12-09 22:43:33" "" "" "SEQ" "DNA" "" "" "0000145577" "00144720" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-04-25 21:19:10" "SEQ" "DNA" "" "" "0000145578" "00144721" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-04-25 21:25:10" "SEQ" "DNA" "" "" "0000145579" "00144722" "1" "01567" "01567" "2013-02-22 21:52:29" "00006" "2013-03-15 12:07:35" "SEQ" "DNA" "" "" "0000145580" "00144723" "1" "01567" "01567" "2013-02-22 21:52:29" "00006" "2013-03-15 12:07:35" "SEQ" "DNA" "" "" "0000145581" "00144724" "1" "01567" "01567" "2013-04-12 17:45:00" "" "" "SEQ" "DNA" "" "" "0000145582" "00144725" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145583" "00144726" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145584" "00144727" "1" "01567" "01567" "2013-04-12 16:49:56" "" "" "SEQ" "DNA" "" "" "0000145585" "00144728" "1" "01567" "01568" "2014-01-15 22:33:39" "" "" "SEQ" "DNA" "" "" "0000145586" "00144729" "1" "01567" "01568" "2014-01-15 22:35:27" "" "" "SEQ" "DNA" "" "" "0000145587" "00144730" "1" "01567" "01568" "2014-01-15 21:48:35" "" "" "SEQ" "DNA" "" "" "0000145588" "00144731" "1" "01567" "01568" "2014-01-15 21:52:15" "" "" "SEQ" "DNA" "" "" "0000145589" "00144732" "1" "01567" "01568" "2014-07-07 19:17:23" "" "" "SEQ" "DNA" "" "" "0000145590" "00144733" "1" "01567" "01568" "2014-01-15 20:22:04" "" "" "SEQ" "DNA" "" "" "0000145591" "00144734" "1" "01567" "01568" "2014-07-07 20:54:51" "01568" "2014-07-07 20:55:25" "SEQ" "DNA" "" "" "0000145592" "00144735" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2014-01-20 21:48:28" "SEQ" "DNA" "" "" "0000145593" "00144736" "1" "01567" "01568" "2014-01-20 21:53:12" "" "" "SEQ" "DNA" "" "" "0000145594" "00144737" "1" "01567" "01568" "2014-01-15 21:32:01" "" "" "SEQ" "DNA" "" "" "0000145595" "00144738" "1" "00006" "01567" "2013-03-21 16:24:29" "01567" "2013-04-11 19:58:05" "SEQ" "DNA" "" "" "0000145596" "00144739" "1" "01567" "01568" "2013-12-09 22:38:31" "" "" "SEQ" "DNA" "" "" "0000145597" "00144740" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145598" "00144741" "1" "01567" "01568" "2014-07-07 16:38:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000145599" "00144742" "1" "01567" "01568" "2014-07-07 17:36:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000145600" "00144743" "1" "01567" "01567" "2013-02-22 21:52:29" "00006" "2013-03-15 12:07:35" "SEQ" "DNA" "" "" "0000145601" "00144744" "1" "00006" "01567" "2013-04-08 22:38:23" "" "" "SEQ" "DNA" "" "" "0000145602" "00144745" "1" "01567" "01568" "2014-01-15 20:45:34" "" "" "SEQ" "DNA" "" "" "0000145603" "00144746" "1" "01567" "01567" "2013-04-09 17:14:09" "01567" "2013-04-09 17:45:10" "SEQ" "DNA" "" "" "0000145604" "00144747" "1" "01567" "01567" "2013-04-12 16:55:24" "" "" "SEQ" "DNA" "" "" "0000145605" "00144748" "1" "01567" "01568" "2015-05-13 20:12:13" "" "" "SEQ" "DNA" "" "" "0000145606" "00144749" "1" "01567" "01568" "2014-01-15 19:48:07" "" "" "SEQ" "DNA" "" "" "0000145607" "00144750" "1" "01567" "01568" "2014-01-15 21:22:03" "" "" "SEQ" "DNA" "" "" "0000145608" "00144751" "1" "01567" "01568" "2014-01-15 21:24:09" "" "" "SEQ" "DNA" "" "" "0000145609" "00144752" "1" "01567" "01568" "2013-12-09 18:53:09" "" "" "SEQ" "DNA" "" "" "0000145610" "00144753" "1" "01567" "01568" "2014-01-17 21:58:21" "" "" "SEQ" "DNA" "" "" "0000145611" "00144754" "1" "01567" "01568" "2014-01-17 22:01:11" "" "" "SEQ" "DNA" "" "" "0000145612" "00144755" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-11 20:00:45" "SEQ" "DNA" "" "" "0000145613" "00144756" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145614" "00144757" "1" "01567" "01568" "2013-12-09 22:45:42" "" "" "SEQ" "DNA" "" "" "0000145615" "00144758" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145616" "00144759" "1" "01567" "01568" "2014-07-07 21:59:48" "" "" "SEQ" "DNA" "" "" "0000145617" "00144760" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-09 18:07:00" "SEQ" "DNA" "" "" "0000145618" "00144761" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-04-26 16:40:05" "SEQ" "DNA" "" "" "0000145619" "00144762" "1" "01567" "01568" "2013-04-26 18:08:36" "01568" "2013-04-26 18:09:18" "SEQ" "DNA" "" "" "0000145620" "00144763" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145621" "00144764" "1" "01567" "01568" "2013-12-05 21:02:31" "" "" "SEQ" "DNA" "" "" "0000145622" "00144765" "1" "01567" "01568" "2014-01-15 20:51:33" "" "" "SEQ" "DNA" "" "" "0000145623" "00144766" "1" "01567" "01568" "2014-01-15 20:54:27" "" "" "SEQ" "DNA" "" "" "0000145624" "00144767" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145625" "00144768" "1" "01567" "01568" "2014-11-25 15:30:24" "" "" "SEQ" "DNA" "" "" "0000145626" "00144769" "1" "01567" "01567" "2013-03-18 20:00:20" "01568" "2013-04-26 17:38:10" "SEQ" "DNA" "" "" "0000145627" "00144770" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145628" "00144771" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145629" "00144772" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145630" "00144773" "1" "01567" "01568" "2013-12-04 21:14:37" "" "" "SEQ" "DNA" "" "" "0000145631" "00144774" "1" "01567" "01568" "2014-01-16 16:33:20" "" "" "SEQ" "DNA" "" "" "0000145632" "00144775" "1" "01567" "01568" "2014-01-16 16:45:56" "01568" "2014-01-16 16:46:19" "SEQ" "DNA" "" "" "0000145633" "00144776" "1" "01567" "01567" "2013-04-12 17:41:27" "" "" "SEQ" "DNA" "" "" "0000145634" "00144777" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145635" "00144778" "1" "01567" "01568" "2013-12-05 21:34:41" "" "" "SEQ" "DNA" "" "" "0000145636" "00144779" "1" "01567" "01568" "2013-12-05 21:38:29" "" "" "SEQ" "DNA" "" "" "0000145637" "00144780" "1" "01567" "01568" "2014-01-14 18:40:42" "" "" "SEQ" "DNA" "" "" "0000145638" "00144781" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145639" "00144782" "1" "01567" "01568" "2014-01-14 18:49:38" "" "" "SEQ" "DNA" "" "" "0000145640" "00144783" "1" "01567" "01567" "2013-04-12 16:20:54" "" "" "SEQ" "DNA" "" "" "0000145641" "00144784" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-09 18:12:26" "SEQ" "DNA" "" "" "0000145642" "00144785" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145643" "00144786" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145644" "00144787" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145645" "00144788" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145646" "00144789" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145647" "00144790" "1" "01567" "01568" "2014-01-14 18:59:02" "" "" "SEQ" "DNA" "" "" "0000145648" "00144791" "1" "01567" "01567" "2013-04-12 16:37:49" "" "" "SEQ" "DNA" "" "" "0000145649" "00144792" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-12-09 20:52:54" "SEQ" "DNA" "" "" "0000145650" "00144793" "1" "01567" "01568" "2014-01-15 21:45:28" "" "" "SEQ" "DNA" "" "" "0000145651" "00144794" "1" "00006" "01567" "2013-04-09 17:28:22" "" "" "SEQ" "DNA" "" "" "0000145652" "00144795" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-09 17:44:05" "SEQ" "DNA" "" "" "0000145653" "00144796" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-09 17:43:14" "SEQ" "DNA" "" "" "0000145654" "00144797" "1" "01567" "01568" "2013-12-05 22:03:31" "" "" "SEQ" "DNA" "" "" "0000145655" "00144798" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145656" "00144799" "1" "01567" "01568" "2014-01-15 21:36:02" "" "" "SEQ" "DNA" "" "" "0000145657" "00144800" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-12-09 21:02:57" "SEQ" "DNA" "" "" "0000145658" "00144801" "1" "01567" "01568" "2014-01-15 20:08:09" "" "" "SEQ" "DNA" "" "" "0000145659" "00144802" "1" "01567" "01568" "2013-12-09 19:39:59" "" "" "SEQ" "DNA" "" "" "0000145660" "00144803" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145661" "00144804" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145662" "00144805" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145663" "00144806" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145664" "00144807" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-09 17:40:42" "SEQ" "DNA" "" "" "0000145665" "00144808" "1" "01567" "01568" "2014-01-13 20:04:37" "" "" "SEQ" "DNA" "" "" "0000145666" "00144809" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145667" "00144810" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145668" "00144811" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145669" "00144812" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-12-09 21:15:24" "SEQ" "DNA" "" "" "0000145670" "00144813" "1" "01567" "01568" "2014-01-17 21:01:26" "" "" "SEQ" "DNA" "" "" "0000145671" "00144814" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145672" "00144815" "1" "01567" "01568" "2014-01-16 18:17:51" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000145673" "00144816" "1" "01567" "01568" "2014-01-16 18:20:12" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000145674" "00144817" "1" "01567" "01568" "2014-01-16 18:22:28" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000145675" "00144818" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145676" "00144819" "1" "01567" "01568" "2013-12-09 19:32:41" "" "" "SEQ" "DNA" "" "" "0000145677" "00144820" "1" "01567" "01568" "2014-01-15 21:40:35" "" "" "SEQ" "DNA" "" "" "0000145678" "00144821" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-12-09 21:18:33" "SEQ" "DNA" "" "" "0000145679" "00144822" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-09 18:00:48" "SEQ" "DNA" "" "" "0000145680" "00144823" "1" "01567" "01568" "2014-01-17 21:34:51" "" "" "SEQ" "DNA" "" "" "0000145681" "00144824" "1" "01567" "01568" "2014-01-17 21:46:48" "" "" "SEQ" "DNA" "" "" "0000145682" "00144825" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145683" "00144826" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145684" "00144827" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145685" "00144828" "1" "01567" "01568" "2013-12-09 22:17:54" "" "" "SEQ" "DNA" "" "" "0000145686" "00144829" "1" "01567" "01568" "2013-12-09 22:19:41" "" "" "SEQ" "DNA" "" "" "0000145687" "00144830" "1" "01567" "01568" "2014-01-13 20:01:27" "" "" "SEQ" "DNA" "" "" "0000145688" "00144831" "1" "01567" "01567" "2013-02-22 21:52:29" "00006" "2013-03-15 12:07:35" "SEQ" "DNA" "" "" "0000145689" "00144832" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145690" "00144833" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145691" "00144834" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145692" "00144835" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145693" "00144836" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145694" "00144837" "1" "01567" "01568" "2015-05-13 19:36:55" "01568" "2015-05-13 19:48:02" "SEQ" "DNA" "" "" "0000145695" "00144838" "1" "01567" "01568" "2014-01-15 20:39:21" "" "" "SEQ" "DNA" "" "" "0000145696" "00144839" "1" "01567" "01568" "2014-01-15 20:41:16" "" "" "SEQ" "DNA" "" "" "0000145697" "00144840" "1" "01567" "01568" "2014-01-17 20:54:58" "" "" "SEQ" "DNA" "" "" "0000145698" "00144841" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145699" "00144842" "1" "01567" "01568" "2013-12-05 20:43:56" "" "" "SEQ" "DNA" "" "" "0000145700" "00144843" "1" "01567" "01567" "2013-02-22 21:52:29" "00006" "2013-03-15 12:07:35" "SEQ" "DNA" "" "" "0000145701" "00144844" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-12-09 21:25:18" "SEQ" "DNA" "" "" "0000145702" "00144845" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145703" "00144846" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-11 19:59:45" "SEQ" "DNA" "" "" "0000145704" "00144847" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-11 19:47:59" "SEQ" "DNA" "" "" "0000145705" "00144848" "1" "01567" "01568" "2014-01-16 20:33:45" "" "" "SEQ" "DNA" "" "" "0000145706" "00144849" "1" "01567" "01568" "2014-01-16 20:38:39" "" "" "SEQ" "DNA" "" "" "0000145707" "00144850" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-12-04 20:54:05" "SEQ" "DNA" "" "" "0000145708" "00144851" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145709" "00144852" "1" "01567" "01568" "2013-12-04 21:28:16" "" "" "SEQ" "DNA" "" "" "0000145710" "00144853" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145711" "00144854" "1" "01567" "01568" "2013-12-09 21:54:17" "" "" "SEQ" "DNA" "" "" "0000145712" "00144855" "1" "01567" "01568" "2014-01-15 21:14:32" "" "" "SEQ" "DNA" "" "" "0000145713" "00144856" "1" "01567" "01568" "2014-01-15 21:16:22" "" "" "SEQ" "DNA" "" "" "0000145714" "00144857" "1" "01567" "01568" "2014-01-16 17:28:56" "" "" "SEQ" "DNA" "" "" "0000145715" "00144858" "1" "01567" "01567" "2013-03-18 20:32:54" "01568" "2013-04-26 17:48:45" "SEQ" "DNA" "" "" "0000145716" "00144859" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-12-04 22:30:54" "SEQ" "DNA" "" "" "0000145717" "00144860" "1" "01567" "01567" "2013-04-11 20:41:16" "" "" "SEQ" "DNA" "" "" "0000145718" "00144861" "1" "01567" "01567" "2013-02-22 21:52:29" "00006" "2013-03-15 12:07:35" "SEQ" "DNA" "" "" "0000145719" "00144862" "1" "01567" "01567" "2013-02-22 21:52:29" "00006" "2013-03-15 12:07:35" "SEQ" "DNA" "" "" "0000145720" "00144863" "1" "01567" "01567" "2013-02-22 21:52:29" "00006" "2013-03-15 12:07:35" "SEQ" "DNA" "" "" "0000145721" "00144864" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-09 17:55:22" "SEQ" "DNA" "" "" "0000145722" "00144865" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145723" "00144866" "1" "01567" "01568" "2013-12-09 21:43:41" "" "" "SEQ" "DNA" "" "" "0000145724" "00144867" "1" "01567" "01567" "2013-04-12 16:40:51" "" "" "SEQ" "DNA" "" "" "0000145725" "00144868" "1" "01567" "01567" "2013-04-12 16:44:39" "" "" "SEQ" "DNA" "" "" "0000145726" "00144869" "1" "01567" "01568" "2014-07-07 19:25:53" "" "" "SEQ" "DNA" "" "" "0000145727" "00144870" "1" "01567" "01568" "2014-07-07 19:27:53" "" "" "SEQ" "DNA" "" "" "0000145728" "00144871" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-12-09 22:02:31" "SEQ" "DNA" "" "" "0000145729" "00144872" "1" "01567" "01568" "2013-12-09 21:41:23" "01568" "2013-12-09 21:41:44" "SEQ" "DNA" "" "" "0000145730" "00144873" "1" "01567" "01568" "2013-12-09 22:08:36" "" "" "SEQ" "DNA" "" "" "0000145731" "00144874" "1" "01567" "01568" "2013-12-09 22:10:09" "" "" "SEQ" "DNA" "" "" "0000145732" "00144875" "1" "01567" "01568" "2013-12-09 22:11:35" "" "" "SEQ" "DNA" "" "" "0000145733" "00144876" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000145734" "00144877" "1" "01567" "01568" "2013-12-09 19:26:17" "" "" "SEQ" "DNA" "" "" "0000145735" "00144878" "1" "01567" "01567" "2013-02-22 21:52:29" "01567" "2013-04-11 19:55:11" "MAQ;SEQ" "DNA" "" "" "0000145736" "00144879" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2013-12-09 21:09:56" "SEQ" "DNA" "" "" "0000145737" "00144880" "1" "01567" "01567" "2013-02-22 21:52:29" "01568" "2014-01-13 19:28:41" "SEQ" "DNA" "" "" "0000145738" "00144881" "1" "01567" "01568" "2014-01-13 19:35:38" "" "" "SEQ" "DNA" "" "" "0000145739" "00144882" "1" "01567" "01568" "2013-12-09 22:35:07" "" "" "SEQ" "DNA" "" "" "0000145740" "00144883" "1" "01567" "01568" "2014-07-07 19:19:18" "" "" "SEQ" "DNA" "" "" "0000145741" "00144884" "1" "01567" "01567" "2013-02-22 21:52:29" "" "" "SEQ" "DNA" "" "" "0000151014" "00150159" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000155838" "00154975" "0" "01807" "01807" "2018-03-07 04:37:37" "" "" "SEQ" "DNA" "" "" "0000156093" "00155229" "1" "00006" "00006" "2018-03-18 13:11:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000224040" "00222965" "1" "01807" "01807" "2019-02-14 10:35:07" "" "" "SEQ" "DNA" "" "" "0000250846" "00249739" "1" "00006" "00006" "2019-08-02 11:14:58" "00006" "2019-08-02 11:53:18" "PCR;SEQ;Southern" "DNA" "" "WES" "0000292025" "00290857" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292026" "00290858" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292027" "00290859" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292028" "00290860" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292029" "00290861" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292030" "00290862" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292031" "00290863" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305524" "00304395" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305525" "00304396" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308037" "00306900" "1" "00006" "00006" "2020-07-22 14:58:12" "01568" "2020-07-31 17:41:16" "arraySNP;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "targeted genomic capture" "0000308038" "00306901" "1" "00006" "00006" "2020-07-22 15:03:57" "" "" "SEQ" "DNA" "" "" "0000308291" "00307149" "1" "00006" "00006" "2020-08-05 09:38:01" "" "" "SEQ" "DNA" "" "" "0000375817" "00374623" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376023" "00374829" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376024" "00374830" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000400490" "00399246" "1" "00006" "00006" "2022-01-17 18:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000405354" "00404116" "1" "00435" "00435" "2022-02-27 20:38:12" "" "" "SEQ" "DNA" "blood" "" "0000405359" "00404121" "1" "00435" "00435" "2022-02-27 20:59:47" "" "" "SEQ" "DNA" "blood" "" "0000406168" "00404930" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000409936" "00408674" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "" "0000409941" "00408679" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "clincal WES" "0000409968" "00408705" "1" "00006" "00006" "2022-04-25 21:01:34" "" "" "SEQ-NG" "DNA" "" "" "0000444903" "00443414" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444904" "00443415" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444905" "00443416" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451337" "00449743" "1" "03544" "03544" "2024-05-09 11:29:43" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000453867" "00452265" "1" "03544" "03544" "2024-07-12 14:17:00" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000457418" "00455802" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457468" "00455852" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 212 "{{screeningid}}" "{{geneid}}" "0000060277" "SACS" "0000145542" "SACS" "0000145543" "SACS" "0000145544" "SACS" "0000145545" "SACS" "0000145546" "SACS" "0000145547" "SACS" "0000145548" "SACS" "0000145549" "SACS" "0000145550" "SACS" "0000145551" "SACS" "0000145552" "SACS" "0000145553" "SACS" "0000145554" "SACS" "0000145555" "SACS" "0000145556" "SACS" "0000145557" "SACS" "0000145558" "SACS" "0000145559" "SACS" "0000145560" "SACS" "0000145561" "SACS" "0000145562" "SACS" "0000145563" "SACS" "0000145564" "SACS" "0000145565" "SACS" "0000145566" "SACS" "0000145567" "SACS" "0000145568" "SACS" "0000145569" "SACS" "0000145570" "SACS" "0000145571" "SACS" "0000145572" "SACS" "0000145573" "SACS" "0000145574" "SACS" "0000145575" "SACS" "0000145576" "SACS" "0000145577" "SACS" "0000145578" "SACS" "0000145579" "SACS" "0000145580" "SACS" "0000145581" "SACS" "0000145582" "SACS" "0000145583" "SACS" "0000145584" "SACS" "0000145585" "SACS" "0000145586" "SACS" "0000145587" "SACS" "0000145588" "SACS" "0000145589" "SACS" "0000145590" "SACS" "0000145591" "SACS" "0000145592" "SACS" "0000145593" "SACS" "0000145594" "SACS" "0000145595" "SACS" "0000145596" "SACS" "0000145597" "SACS" "0000145598" "SACS" "0000145599" "SACS" "0000145600" "SACS" "0000145601" "SACS" "0000145602" "SACS" "0000145603" "SACS" "0000145604" "SACS" "0000145605" "SACS" "0000145606" "SACS" "0000145607" "SACS" "0000145608" "SACS" "0000145609" "SACS" "0000145610" "SACS" "0000145611" "SACS" "0000145612" "SACS" "0000145613" "SACS" "0000145614" "SACS" "0000145615" "SACS" "0000145616" "SACS" "0000145617" "SACS" "0000145618" "SACS" "0000145619" "SACS" "0000145620" "SACS" "0000145621" "SACS" "0000145622" "SACS" "0000145623" "SACS" "0000145624" "SACS" "0000145625" "SACS" "0000145626" "SACS" "0000145627" "SACS" "0000145628" "SACS" "0000145629" "SACS" "0000145630" "SACS" "0000145631" "SACS" "0000145632" "SACS" "0000145633" "SACS" "0000145634" "SACS" "0000145635" "SACS" "0000145636" "SACS" "0000145637" "SACS" "0000145638" "SACS" "0000145639" "SACS" "0000145640" "SACS" "0000145641" "SACS" "0000145642" "SACS" "0000145643" "SACS" "0000145644" "SACS" "0000145645" "SACS" "0000145646" "SACS" "0000145647" "SACS" "0000145648" "SACS" "0000145649" "SACS" "0000145650" "SACS" "0000145651" "SACS" "0000145652" "SACS" "0000145653" "SACS" "0000145654" "SACS" "0000145655" "SACS" "0000145656" "SACS" "0000145657" "SACS" "0000145658" "SACS" "0000145659" "SACS" "0000145660" "SACS" "0000145661" "SACS" "0000145662" "SACS" "0000145663" "SACS" "0000145664" "SACS" "0000145665" "SACS" "0000145666" "SACS" "0000145667" "SACS" "0000145668" "SACS" "0000145669" "SACS" "0000145670" "SACS" "0000145671" "SACS" "0000145672" "SACS" "0000145673" "SACS" "0000145674" "SACS" "0000145675" "SACS" "0000145676" "SACS" "0000145677" "SACS" "0000145678" "SACS" "0000145679" "SACS" "0000145680" "SACS" "0000145681" "SACS" "0000145682" "SACS" "0000145683" "SACS" "0000145684" "SACS" "0000145685" "SACS" "0000145686" "SACS" "0000145687" "SACS" "0000145688" "SACS" "0000145689" "SACS" "0000145690" "SACS" "0000145691" "SACS" "0000145692" "SACS" "0000145693" "SACS" "0000145694" "SACS" "0000145695" "SACS" "0000145696" "SACS" "0000145697" "SACS" "0000145698" "SACS" "0000145699" "SACS" "0000145700" "SACS" "0000145701" "SACS" "0000145702" "SACS" "0000145703" "SACS" "0000145704" "SACS" "0000145705" "SACS" "0000145706" "SACS" "0000145707" "SACS" "0000145708" "SACS" "0000145709" "SACS" "0000145710" "SACS" "0000145711" "SACS" "0000145712" "SACS" "0000145713" "SACS" "0000145714" "SACS" "0000145715" "SACS" "0000145716" "SACS" "0000145717" "SACS" "0000145718" "SACS" "0000145719" "SACS" "0000145720" "SACS" "0000145721" "SACS" "0000145722" "SACS" "0000145723" "SACS" "0000145724" "SACS" "0000145725" "SACS" "0000145726" "SACS" "0000145727" "SACS" "0000145728" "SACS" "0000145729" "SACS" "0000145730" "SACS" "0000145731" "SACS" "0000145732" "SACS" "0000145733" "SACS" "0000145734" "SACS" "0000145735" "SACS" "0000145736" "SACS" "0000145737" "SACS" "0000145738" "SACS" "0000145739" "SACS" "0000145740" "SACS" "0000145741" "SACS" "0000151014" "SACS" "0000250846" "RFC1" "0000250846" "SACS" "0000308037" "ASUN" "0000308038" "ASUN" "0000308291" "SACS" "0000375817" "SACS" "0000376023" "SACS" "0000376024" "SACS" "0000405354" "SACS" "0000405359" "SACS" ## 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 = 663 "{{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}}" "0000090063" "3" "90" "13" "23910276" "23910276" "subst" "0" "01552" "SACS_000200" "g.23910276C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.23336137C>T" "" "pathogenic" "" "0000091297" "3" "90" "13" "23927993" "23927994" "ins" "0" "00006" "SACS_000201" "g.23927993_23927994insG" "" "{PMID:Faruq 2014:24102492}, {DOI:Faruq 2014:10.1111/cge.12279}" "" "" "homozygosity mapping (3.2 Mb region)" "Germline" "yes" "" "0" "" "" "g.23353854_23353855insG" "" "pathogenic" "" "0000237849" "0" "90" "13" "23906101" "23906101" "subst" "4.06306E-6" "01807" "SACS_000202" "g.23906101G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.23331962G>A" "" "pathogenic" "" "0000237850" "0" "90" "13" "23914717" "23914720" "del" "0" "01807" "SACS_000203" "g.23914717_23914720del" "" "" "" "3298_3301delGAAA" "" "Unknown" "" "" "0" "" "" "g.23340578_23340581del" "" "pathogenic" "" "0000237916" "0" "75" "13" "23495953" "24927491" "dup" "0" "01567" "SACS_000170" "g.(?_23495953)_(24927491_?)dup" "" "{PMID:McElroy 2013:23239789}" "" "hg18:g.(?_22,393,953)_(23,825,491_?)dup" "chromosome 13 duplication" "De novo" "" "" "0" "" "" "g.(?_22921814)_(24353353_?)dup" "" "likely pathogenic" "" "0000237917" "1" "95" "13" "23906086" "23906773" "del" "0" "01567" "SACS_000094" "g.23906086_23906773del" "" "{PMID:Thiffault 2012:23250129}" "" "11242 del688bp" "" "Germline" "" "" "0" "" "" "g.23331947_23332634del" "" "pathogenic" "" "0000237918" "2" "95" "13" "23906086" "23906773" "del" "0" "01567" "SACS_000094" "g.23906086_23906773del" "" "{PMID:Thiffault 2012:23250129}" "" "11242 del688bp" "" "Germline" "" "" "0" "" "" "g.23331947_23332634del" "" "pathogenic" "" "0000237919" "0" "95" "13" "23906656" "23906656" "dup" "0" "01567" "SACS_000124" "g.23906656dup" "" "{PMID:Shimazaki 2013:22268491}" "" "11361_2dupT (R3788SfsX3820)" "" "Unknown" "?" "" "0" "" "" "g.23332517dup" "" "pathogenic" "" "0000237920" "1" "95" "13" "0" "0" "" "0" "01567" "SACS_000043" "g.23929275ˆ23929276C>T" "" "{PMID:Vermeer 2008:18465152}" "" "Trp492X, g.56103G>A" "" "Germline" "" "" "0" "" "" "g.23355136ˆ23355137C>T" "" "pathogenic" "" "0000237921" "11" "95" "13" "23942540" "23949409" "dup" "0" "01567" "SACS_000075" "g.(23939417_23942540)_(23949409_23985358)dup" "" "{PMID:Baets 2010:20876471}" "" "ex03_05del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000237922" "2" "95" "13" "23912009" "23912011" "del" "0" "01567" "SACS_000041" "g.23912009_23912011del" "" "{PMID:Vermeer 2008:18465152}" "" "p.Arg2002fs, g.73370delA" "in Rpt2/ARM-rpt\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000237923" "2" "95" "13" "23908103" "23908105" "del" "0" "01567" "SACS_000045" "g.23908103_23908105del" "" "{PMID:Vermeer 2008:18465152}" "" "Leu3304fs" "in ARM-rpt\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000237924" "1" "95" "13" "23904274" "23985379" "del" "0" "01567" "SACS_000048" "g.(?_23904274)_(23985379_?)del" "" "{PMID:Breckpot 2008:18398442}" "" "chr13.hg19:g.(22,335,637_22,383,193)_(23,801,734_23,879,339)del" "denovo deletion on maternel chromosome including 6 genes" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000237925" "1" "95" "13" "23904274" "23985379" "del" "0" "01567" "SACS_000048" "g.(?_23904274)_(23985379_?)del" "" "{PMID:Terracciano 2008:19031088}" "" "1.5Mb del on chr13q12.12" "del 1.5 Mb (6 genes)" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000237926" "2" "95" "13" "23904274" "23985379" "del" "0" "01567" "SACS_000048" "g.(?_23904274)_(23985379_?)del" "" "{PMID:Terracciano 2008:19031088}" "" "1.5Mb del on chr13q12.12" "del 1.5 Mb (6 genes)" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000237927" "11" "95" "13" "23904274" "23985379" "del" "0" "01567" "SACS_000048" "g.(?_23904274)_(23985379_?)del" "" "{PMID:Terracciano 2010:20368637}" "" "1.5Mb del on chr13q12.12" "deletion on paternel chromosome including 6 genes" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000237928" "21" "95" "13" "23904274" "23985379" "del" "0" "01567" "SACS_000048" "g.(?_23904274)_(23985379_?)del" "" "{PMID:Terracciano 2010:20368637}" "" "deletion 1.5 Mb" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000237929" "2" "95" "13" "23511581" "24928468" "del" "0" "01567" "SACS_000048" "g.(?_23511581)_(24928468?)del" "" "{PMID:Thiffault 2012:23250129}" "" "23511581_24928468del" "possible founder deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000237930" "1" "95" "13" "23904274" "23985379" "del" "0" "01567" "SACS_000048" "g.(?_23904274)_(23985379_?)del" "" "{PMID:McMillan 2009:19208398}" "" "584 kb deletion" "del 584 Kb (SACS and SGCG) chr13: 22,423,000-23,007,000" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000237931" "2" "95" "13" "23904274" "23985379" "del" "0" "01567" "SACS_000048" "g.(?_23904274)_(23985379_?)del" "" "{PMID:McMillan 2009:19208398}" "" "584 kb deletion" "del 584 Kb (SACS and SGCG) chr13: 22,423,000-23,007,000" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000237932" "11" "95" "13" "23904274" "23985379" "del" "0" "01567" "SACS_000048" "g.(?_23904274)_(23985379_?)del" "" "{PMID:Pyle 2013:24180463}" "" "0.7-Mb deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000237933" "11" "95" "13" "23904274" "23985379" "del" "0" "01567" "SACS_000048" "g.(?_23904274)_(23985379_?)del" "" "{PMID:Pyle 2013:24180463}" "" "deletion 0.7 Mb" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000237934" "2" "95" "13" "23904274" "23985379" "del" "0" "01567" "SACS_000048" "g.(?_23904274)_(23985379_?)del" "" "{PMID:Romano 2013:23280630}" "" "1.5 Mb macrodeletion" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000237935" "2" "35" "13" "23907981" "23907981" "subst" "8.15222E-6" "01567" "SACS_000131" "g.23907981A>G" "" "{PMID:Prodi 2013:22816526}" "" "10034T>C" "" "Germline" "?" "" "0" "" "" "g.23333842A>G" "" "likely benign" "" "0000237936" "2" "35" "13" "23907981" "23907981" "subst" "8.15222E-6" "01567" "SACS_000131" "g.23907981A>G" "" "{PMID:Prodi 2013:22816526}" "" "10034T>C" "" "Germline" "?" "" "0" "" "" "g.23333842A>G" "" "likely benign" "" "0000237937" "0" "95" "13" "23907725" "23907725" "subst" "0" "01567" "SACS_000065" "g.23907725G>C" "" "{PMID:Brahim 2011:20798953}" "" "10290C>G" "" "Germline" "" "" "0" "" "" "g.23333586G>C" "" "pathogenic" "" "0000237938" "3" "95" "13" "23907717" "23907717" "del" "0" "01567" "SACS_000020" "g.23907717del" "" "{PMID:Richter 2004:15156359}" "" "8124delC, g.77662delC" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23333578del" "" "pathogenic" "" "0000237939" "1" "95" "13" "23907573" "23907573" "subst" "0" "01567" "SACS_000044" "g.23907573A>G" "" "{PMID:Vermeer 2008:18465152}" "" "p.Leu3481Pro" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23333434A>G" "" "pathogenic" "" "0000237940" "2" "95" "13" "23907553" "23907554" "del" "0" "01567" "SACS_000143" "g.23907553_23907554del" "" "{PMID:Desserre 2011:21597885}" "" "10462_10463delCT" "" "Unknown" "?" "" "0" "" "" "g.23333414_23333415del" "" "pathogenic" "" "0000237941" "0" "77" "13" "23907465" "23907465" "subst" "0" "01567" "SACS_000191" "g.23907465A>C" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.23333326A>C" "" "likely pathogenic" "" "0000237942" "21" "77" "13" "23907361" "23907366" "del" "0" "01567" "SACS_000192" "g.23907361_23907366del" "" "{PMID:Leavitt 2014:25237835}" "" "10651_10656del" "" "Germline" "?" "" "0" "" "" "g.23333222_23333227del" "" "likely pathogenic" "" "0000237943" "1" "95" "13" "23907109" "23907109" "subst" "1.22243E-5" "01567" "SACS_000036" "g.23907109G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p. Arg3636*, g.78270C>T" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23332970G>A" "" "pathogenic" "" "0000237944" "1" "95" "13" "23907108" "23907108" "subst" "8.14956E-6" "01567" "SACS_000068" "g.23907108C>T" "" "{PMID:Baets 2010:20876471}" "" "p.[Arg3636Gln;Pro3652Thr]+[Leu3745ArgfxX1]" "" "Germline" "" "" "0" "" "" "g.23332969C>T" "" "pathogenic" "" "0000237945" "1" "95" "13" "23907108" "23907108" "subst" "8.14956E-6" "01567" "SACS_000068" "g.23907108C>T" "" "{PMID:Baets 2010:20876471}" "" "p.[Arg3636Gln;Pro3652Thr]" "" "Germline" "" "" "0" "" "" "g.23332969C>T" "" "pathogenic" "" "0000237946" "1" "95" "13" "23907108" "23907108" "subst" "8.14956E-6" "01567" "SACS_000068" "g.23907108C>T" "" "{PMID:Baets 2010:20876471}" "" "p.[Arg3636Gln;Pro3652Thr]" "" "Germline" "" "" "0" "" "" "g.23332969C>T" "" "pathogenic" "" "0000237947" "2" "95" "13" "23907108" "23907108" "subst" "8.14956E-6" "01567" "SACS_000068" "g.23907108C>T" "" "{PMID:Baets 2010:20876471}" "" "p.[Arg3636Gln;Pro3652Thr]" "" "Germline" "" "" "0" "" "" "g.23332969C>T" "" "pathogenic" "" "0000237948" "1" "95" "13" "23907108" "23907108" "subst" "8.14956E-6" "01567" "SACS_000068" "g.23907108C>T" "" "{PMID:Baets 2010:20876471}" "" "p.[Arg3636Gln;Pro3652Thr]" "" "Germline" "" "" "0" "" "" "g.23332969C>T" "" "pathogenic" "" "0000237949" "1" "95" "13" "23907081" "23907081" "subst" "0" "01567" "SACS_000072" "g.23907081A>G" "" "{PMID:Baets 2010:20876471}" "" "p.[Leu3645Pro]" "" "De novo" "" "" "0" "" "" "g.23332942A>G" "" "pathogenic" "" "0000237950" "1" "95" "13" "23907061" "23907061" "subst" "3.66757E-5" "01567" "SACS_000069" "g.23907061G>T" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23332922G>T" "" "pathogenic" "" "0000237951" "1" "95" "13" "23907061" "23907061" "subst" "3.66757E-5" "01567" "SACS_000069" "g.23907061G>T" "" "{PMID:Baets 2010:20876471}" "" "p.[Arg3636Gln;Pro3652Thr]" "" "Germline" "" "" "0" "" "" "g.23332922G>T" "" "pathogenic" "" "0000237952" "1" "95" "13" "23907061" "23907061" "subst" "3.66757E-5" "01567" "SACS_000069" "g.23907061G>T" "" "{PMID:Baets 2010:20876471}" "" "p.[Arg3636Gln;Pro3652Thr]" "" "Germline" "" "" "0" "" "" "g.23332922G>T" "" "pathogenic" "" "0000237953" "2" "95" "13" "23907061" "23907061" "subst" "3.66757E-5" "01567" "SACS_000069" "g.23907061G>T" "" "{PMID:Baets 2010:20876471}" "" "p.[Arg3636Gln;Pro3652Thr]" "" "Germline" "" "" "0" "" "" "g.23332922G>T" "" "pathogenic" "" "0000237954" "1" "95" "13" "23907061" "23907061" "subst" "3.66757E-5" "01567" "SACS_000069" "g.23907061G>T" "" "{PMID:Baets 2010:20876471}" "" "p.[Arg3636Gln;Pro3652Thr]" "" "Germline" "" "" "0" "" "" "g.23332922G>T" "" "pathogenic" "" "0000237955" "11" "75" "13" "23907057" "23907057" "subst" "0" "01567" "SACS_000048" "g.23907057A>G" "" "{PMID:Breckpot 2008:18398442}" "" "10517T>C (p.F3506S)" "" "Germline" "" "" "0" "" "" "g.23332918A>G" "" "likely pathogenic" "" "0000237956" "21" "95" "13" "23907002" "23907003" "del" "0" "01567" "SACS_000173" "g.23907002_23907003del" "" "{PMID:Masciullo 2013:24164681}" "" "11012_11012delAA/p.Q3671Rfs23*" "" "Germline" "yes" "" "0" "" "" "g.23332863_23332864del" "" "pathogenic" "" "0000237957" "3" "75" "13" "23906911" "23906911" "subst" "0" "01567" "SACS_000177" "g.23906911T>C" "" "{PMID:Gregianin 2013:23800155}" "" "11104A>G (p.Thr3702Ala)" "" "Germline" "" "" "0" "" "" "g.23332772T>C" "" "likely pathogenic" "" "0000237958" "3" "75" "13" "23906911" "23906911" "subst" "0" "01567" "SACS_000177" "g.23906911T>C" "" "{PMID:Gregianin 2013:23800155}" "" "11104A>G (p.Thr3702Ala)" "" "Germline" "" "" "0" "" "" "g.23332772T>C" "" "likely pathogenic" "" "0000237959" "3" "95" "13" "23906830" "23906830" "subst" "0" "01567" "SACS_000054" "g.23906830G>A" "" "{PMID:Masciullo 2008:18604465}" "" "10743C>T" "" "Unknown" "?" "" "0" "" "" "g.23332691G>A" "" "pathogenic" "" "0000237960" "2" "95" "13" "23906780" "23906781" "del" "0" "01567" "SACS_000070" "g.23906780_23906781del" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23332641_23332642del" "" "pathogenic" "" "0000237961" "21" "95" "13" "23906751" "23906752" "del" "0" "01567" "SACS_000074" "g.23906751_23906752del" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23332612_23332613del" "" "pathogenic" "" "0000237962" "0" "75" "13" "23906751" "23906752" "del" "0" "01567" "SACS_000074" "g.23906751_23906752del" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23332612_23332613del" "" "likely pathogenic" "" "0000237963" "2" "95" "13" "23906712" "23906713" "ins" "0" "01567" "SACS_000147" "g.23906712_23906713insC" "" "" "" "11303insG(p.T3768fsX1)" "" "Unknown" "?" "" "0" "" "" "g.23332573_23332574insC" "" "pathogenic" "" "0000237964" "0" "95" "13" "23906641" "23906641" "subst" "4.06607E-6" "01567" "SACS_000052" "g.23906641G>A" "" "{PMID:Bouhlal 2008:18569450}" "" "11374C>T, g.78738C>T" "" "Germline" "" "" "0" "" "" "g.23332502G>A" "" "pathogenic" "" "0000237965" "1" "95" "13" "23906641" "23906641" "subst" "4.06607E-6" "01567" "SACS_000052" "g.23906641G>A" "" "{PMID:Bouhlal 2008:18569450}" "" "11374C>T" "" "Unknown" "?" "" "0" "" "" "g.23332502G>A" "" "pathogenic" "" "0000237966" "3" "75" "13" "23906475" "23906477" "del" "0" "01567" "SACS_000158" "g.23906475_23906477del" "" "{PMID:Synofzik 2013:23497566}" "" "11542_11544del p.Ile3848del" "" "Unknown" "?" "" "0" "" "" "g.23332336_23332338del" "" "likely pathogenic" "" "0000237967" "3" "75" "13" "23906475" "23906477" "del" "0" "01567" "SACS_000158" "g.23906475_23906477del" "" "{PMID:Synofzik 2013:23497566}" "" "11542_11544del p.Ile3848del" "" "Unknown" "?" "" "0" "" "" "g.23332336_23332338del" "" "likely pathogenic" "" "0000237968" "0" "75" "13" "23906417" "23906417" "del" "0" "01567" "SACS_000118" "g.23906417del" "" "{PMID:Masciullo 2012:22805644}" "" "11598delC" "" "Unknown" "" "" "0" "" "" "g.23332278del" "" "likely pathogenic" "" "0000237969" "11" "95" "13" "23906417" "23906417" "del" "0" "01567" "SACS_000118" "g.23906417del" "" "{PMID:Masciullo 2013:24164681}" "" "11598delC/p.G3866fs3*" "" "Unknown" "yes" "" "0" "" "" "g.23332278del" "" "pathogenic" "" "0000237970" "11" "95" "13" "23906417" "23906417" "del" "0" "01567" "SACS_000118" "g.23906417del" "" "{PMID:Masciullo 2013:24164681}" "" "11598delC/p.G3866fs3*" "" "Unknown" "" "" "0" "" "" "g.23332278del" "" "pathogenic" "" "0000237971" "1" "75" "13" "23906391" "23906391" "subst" "0" "01567" "SACS_000161" "g.23906391C>T" "" "{PMID:Synofzik 2013:23497566}" "" "11624G>A p.Arg3875His" "" "Unknown" "?" "" "0" "" "" "g.23332252C>T" "" "likely pathogenic" "" "0000237972" "2" "95" "13" "23906383" "23906383" "dup" "0" "01567" "SACS_000133" "g.23906383dup" "" "{PMID:Prodi 2013:22816526}" "" "11634insA" "" "Unknown" "?" "" "0" "" "" "g.23332244dup" "" "pathogenic" "" "0000237973" "3" "95" "13" "23906381" "23906382" "del" "0" "01567" "SACS_000174" "g.23906381_23906382del" "" "{PMID:Liew 2013:23699708}" "" "11637_11638delAG (p.Arg3879fs)" "" "Germline" "yes" "" "0" "" "" "g.23332242_23332243del" "" "pathogenic" "" "0000237974" "21" "95" "13" "23906308" "23906308" "subst" "8.13524E-6" "01567" "SACS_000058" "g.23906308G>A" "" "{PMID:Narayanan 2011:21745802}" "" "11707C>T" "" "Germline" "" "" "0" "" "" "g.23332169G>A" "" "pathogenic" "" "0000237975" "0" "95" "13" "23906308" "23906308" "subst" "8.13524E-6" "01567" "SACS_000058" "g.23906308G>A" "" "{PMID:Guernsey 2010:19892370}" "" "11707C>T" "" "Germline" "" "" "0" "" "" "g.23332169G>A" "" "pathogenic" "" "0000237976" "0" "95" "13" "23906308" "23906308" "subst" "8.13524E-6" "01567" "SACS_000058" "g.23906308G>A" "" "{PMID:Guernsey 2010:19892370}" "" "11707C>T" "" "Germline" "" "" "0" "" "" "g.23332169G>A" "" "pathogenic" "" "0000237977" "0" "95" "13" "23906308" "23906308" "subst" "8.13524E-6" "01567" "SACS_000058" "g.23906308G>A" "" "{PMID:Guernsey 2010:19892370}" "" "11707C>T" "" "Germline" "" "" "0" "" "" "g.23332169G>A" "" "pathogenic" "" "0000237978" "21" "95" "13" "23906308" "23906308" "subst" "8.13524E-6" "01567" "SACS_000058" "g.23906308G>A" "" "{PMID:Guernsey 2010:19892370}" "" "11707C>T" "" "Germline" "" "" "0" "" "" "g.23332169G>A" "" "pathogenic" "" "0000237979" "0" "75" "13" "23906238" "23906238" "subst" "0" "01567" "SACS_000119" "g.23906238T>C" "" "{PMID:Masciullo 2012:22805644}" "" "11777A>G" "" "Unknown" "" "" "0" "" "" "g.23332099T>C" "" "likely pathogenic" "" "0000237980" "0" "35" "13" "23906235" "23906235" "subst" "6.91113E-5" "01567" "SACS_000103" "g.23906235G>A" "" "{PMID:Guernsey 2010:19892370}" "" "p.Ala3927Val" "" "Unknown" "" "" "0" "" "" "g.23332096G>A" "" "likely benign" "" "0000237981" "3" "95" "13" "23906186" "23906189" "del" "0" "01567" "SACS_000021" "g.23906186_23906189del" "" "{PMID:Richter 2004:15156359}" "" "9655_9658delAGTT, g.79193delAGTT" "no domain" "Germline" "" "" "0" "" "" "g.23332047_23332050del" "" "pathogenic" "" "0000237982" "0" "95" "13" "23929562" "23929571" "del" "0" "01567" "SACS_000015" "g.23929562_23929571del" "" "{PMID:Ouyang 2006:16606928}" "" "g.32627_32636delACACTGTTAC, g.5581255821delgtaacagtgt" "in Rpt1/ARM-rpt" "Germline" "" "" "0" "" "" "g.23355423_23355432del" "" "pathogenic" "" "0000237983" "2" "95" "13" "23929562" "23929562" "dup" "0" "01567" "SACS_000091" "g.23929562dup" "" "{PMID:Thiffault 2012:23250129}" "" "1190insA" "" "Germline" "" "" "0" "" "" "g.23355423dup" "" "pathogenic" "" "0000237984" "2" "75" "13" "23906031" "23906033" "dup" "0" "01567" "SACS_000160" "g.23906031_23906033dup" "" "{PMID:Synofzik 2013:23497566}" "" "11984_11986dupTGT p.L3995dup" "" "Unknown" "?" "" "0" "" "" "g.23331892_23331894dup" "" "likely pathogenic" "" "0000237985" "2" "75" "13" "23906031" "23906033" "dup" "0" "01567" "SACS_000160" "g.23906031_23906033dup" "" "{PMID:Synofzik 2013:23497566}" "" "11984_11986dupTGT p.L3995dup" "" "Unknown" "?" "" "0" "" "" "g.23331892_23331894dup" "" "likely pathogenic" "" "0000237986" "3" "75" "13" "23905995" "23905995" "subst" "4.06626E-6" "01567" "SACS_000109" "g.23905995G>A" "" "{PMID:Miyatake 2012:22892508}" "" "12020C>T" "" "De novo" "" "" "0" "" "" "g.23331856G>A" "" "likely pathogenic" "" "0000237987" "1" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237988" "2" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237989" "1" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237990" "1" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237991" "1" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237992" "2" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237993" "1" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237994" "2" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237995" "1" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237996" "1" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237997" "2" "95" "13" "23905855" "23905855" "subst" "1.63119E-5" "01567" "SACS_000030" "g.23905855G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln4054*, g.79524C>T" "NAG domain" "Germline" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000237998" "0" "95" "13" "23905795" "23905795" "subst" "0" "01567" "SACS_000005" "g.23905795C>G" "" "{PMID12873855 :El Euch-Fayache 2003}" "" "10046G>C, g.79584G>C" "NAG domain" "Germline" "" "" "0" "" "" "g.23331656C>G" "" "pathogenic" "" "0000237999" "3" "75" "13" "23905795" "23905795" "subst" "0" "01567" "SACS_000005" "g.23905795C>G" "" "{PMID:Brahim 2011:20798953}" "" "12220G>C" "NAG domain" "Germline" "" "" "0" "" "" "g.23331656C>G" "" "likely pathogenic" "" "0000238000" "3" "95" "13" "23905783" "23905783" "subst" "4.07133E-6" "01567" "SACS_000112" "g.23905783G>A" "" "{PMID:Prodi 2013:22816526}" "" "12232C>T" "" "De novo" "" "" "0" "" "" "g.23331644G>A" "" "pathogenic" "" "0000238001" "1" "95" "13" "23929523" "23929524" "del" "0" "01567" "SACS_000114" "g.23929523_23929524del" "" "{PMID:Prodi 2013:22816526}" "" "1228_1229delTT" "" "De novo" "" "" "0" "" "" "g.23355384_23355385del" "" "pathogenic" "" "0000238002" "1" "95" "13" "23929524" "23929524" "del" "0" "01567" "SACS_000171" "g.23929524del" "" "{PMID:Chen 2013:23726790}" "" "1229delT p.Leu410X" "" "Unknown" "?" "" "0" "" "" "g.23355385del" "" "pathogenic" "" "0000238003" "1" "95" "13" "23929524" "23929524" "del" "0" "01567" "SACS_000171" "g.23929524del" "" "{PMID:Chen 2013:23726790}" "" "1229delT p.Leu410X" "" "Unknown" "?" "" "0" "" "" "g.23355385del" "" "pathogenic" "" "0000238004" "3" "95" "13" "23905587" "23905587" "dup" "0" "01567" "SACS_000113" "g.23905587dup" "" "{PMID:Prodi 2013:22816526}" "" "12428_12429insA" "" "De novo" "" "" "0" "" "" "g.23331448dup" "" "pathogenic" "" "0000238005" "3" "77" "13" "23905429" "23905429" "dup" "0" "01567" "SACS_000187" "g.23905429dup" "" "{PMID:Mignarri 2014:24318559}" "" "12586_12587insT (p.S4196fs14*)" "" "Unknown" "?" "" "0" "" "" "g.23331290dup" "" "likely pathogenic" "" "0000238006" "3" "77" "13" "23905429" "23905429" "dup" "0" "01567" "SACS_000187" "g.23905429dup" "" "{PMID:Mignarri 2014:24318559}" "" "12586_12587insT (p.S4196fs14*)" "" "Unknown" "?" "" "0" "" "" "g.23331290dup" "" "likely pathogenic" "" "0000238007" "2" "95" "13" "23905412" "23905412" "subst" "0" "01567" "SACS_000165" "g.23905412G>T" "" "{PMID:Synofzik 2013:23497566}" "" "12603C>A p.Tyr4201*" "" "Unknown" "?" "" "0" "" "" "g.23331273G>T" "" "pathogenic" "" "0000238008" "3" "95" "13" "23905165" "23905168" "del" "0" "01567" "SACS_000057" "g.23905165_23905168del" "" "{PMID:Bouhlal 2009:19529988}" "" "12846_12850delAGAG" "" "Germline" "" "" "0" "" "" "g.23331026_23331029del" "" "pathogenic" "" "0000238009" "3" "95" "13" "23905165" "23905168" "del" "0" "01567" "SACS_000057" "g.23905165_23905168del" "" "{PMID:Brahim 2011:20798953}" "" "12846_12850delAGAG" "" "Germline" "" "" "0" "" "" "g.23331026_23331029del" "" "pathogenic" "" "0000238010" "3" "95" "13" "23905165" "23905168" "del" "0" "01567" "SACS_000057" "g.23905165_23905168del" "" "{PMID:Bouhlal 2009:19529988}" "" "12846_12850delAGAG" "" "Germline" "" "" "0" "" "" "g.23331026_23331029del" "" "pathogenic" "" "0000238011" "3" "95" "13" "23905165" "23905168" "del" "0" "01567" "SACS_000057" "g.23905165_23905168del" "" "{PMID:Bouhlal 2009:19529988}" "" "12846_12850delAGAG" "" "Germline" "" "" "0" "" "" "g.23331026_23331029del" "" "pathogenic" "" "0000238012" "3" "95" "13" "23905165" "23905168" "del" "0" "01567" "SACS_000057" "g.23905165_23905168del" "" "{PMID:Bouhlal 2009:19529988}" "" "12846_12850delAGAG" "" "Germline" "" "" "0" "" "" "g.23331026_23331029del" "" "pathogenic" "" "0000238013" "0" "95" "13" "23905042" "23905042" "subst" "8.1706E-6" "01567" "SACS_000023" "g.23905042G>A" "" "{PMID:Yamamoto 2006:16944349}" "" "12973C>T, g.80337C>T" "DnaJ" "Germline" "" "" "0" "" "" "g.23330903G>A" "" "pathogenic" "" "0000238014" "2" "95" "13" "23905042" "23905042" "subst" "8.1706E-6" "01567" "SACS_000023" "g.23905042G>A" "" "{PMID:Gazulla 2011:21665375}" "" "12973C>T, g.80337C>T" "DnaJ" "Germline" "" "" "0" "" "" "g.23330903G>A" "" "pathogenic" "" "0000238015" "3" "95" "13" "23905033" "23905033" "del" "0" "01567" "SACS_000134" "g.23905033del" "" "{PMID:Prodi 2013:22816526}" "" "12982delA" "" "Unknown" "?" "" "0" "" "" "g.23330894del" "" "pathogenic" "" "0000238016" "2" "75" "13" "23905024" "23905024" "subst" "0" "01567" "SACS_000136" "g.23905024G>A" "" "{PMID:Prodi 2013:22816526}" "" "12991C>T (p.R4331W)" "" "Unknown" "?" "" "0" "" "" "g.23330885G>A" "" "likely pathogenic" "" "0000238017" "1" "95" "13" "23905023" "23905023" "subst" "0" "01567" "SACS_000037" "g.23905023C>T" "" "{PMID:Vermeer 2008:18465152}" "" "p.Arg4331Gln" "DnaJ" "Germline" "" "" "0" "" "" "g.23330884C>T" "" "pathogenic" "" "0000238018" "2" "95" "13" "23905023" "23905023" "subst" "0" "01567" "SACS_000037" "g.23905023C>T" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23330884C>T" "" "pathogenic" "" "0000238019" "1" "95" "13" "23904988" "23904988" "subst" "6.12585E-5" "01567" "SACS_000076" "g.23904988C>T" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23330849C>T" "" "pathogenic" "" "0000238020" "21" "95" "13" "23904967" "23904967" "subst" "0" "01567" "SACS_000120" "g.23904967C>A" "" "{PMID:Pyle 2013:24180463}" "" "13048G>T" "" "Unknown" "" "" "0" "" "" "g.23330828C>A" "" "pathogenic" "" "0000238021" "21" "95" "13" "23904967" "23904967" "subst" "0" "01567" "SACS_000120" "g.23904967C>A" "" "{PMID:Pyle 2013:24180463}" "" "13048G>T" "" "Unknown" "" "" "0" "" "" "g.23330828C>A" "" "pathogenic" "" "0000238022" "2" "95" "13" "23904963" "23904963" "del" "0" "01567" "SACS_000156" "g.23904963del" "" "{PMID:Synofzik 2013:23497566}" "" "13056delT p.Phe4352Leufs*11" "" "Unknown" "?" "" "0" "" "" "g.23330824del" "" "pathogenic" "" "0000238023" "3" "95" "13" "23904883" "23904883" "subst" "4.06312E-6" "01567" "SACS_000066" "g.23904883G>A" "" "{PMID:Anesi 2011:20852969}" "" "13132C>T" "" "Germline" "" "" "0" "" "" "g.23330744G>A" "" "pathogenic" "" "0000238024" "21" "95" "13" "23904778" "23904778" "subst" "0" "01567" "SACS_000060" "g.23904778G>A" "" "{PMID:Terracciano 2010:20368637}" "" "13237C>T (p.Gln4413X)" "" "Germline" "?" "" "0" "" "" "g.23330639G>A" "" "pathogenic" "" "0000238025" "1" "75" "13" "23904663" "23904663" "subst" "0" "01567" "SACS_000175" "g.23904663A>G" "" "{PMID:Tzoulis 2013:23785840}" "" "13352T>C;p.Leu4451Pro" "" "Unknown" "?" "" "0" "" "" "g.23330524A>G" "" "likely pathogenic" "" "0000238026" "1" "75" "13" "23904663" "23904663" "subst" "0" "01567" "SACS_000175" "g.23904663A>G" "" "{PMID:Tzoulis 2013:23785840}" "" "13352T>C;p.Leu4451Pro" "" "Unknown" "?" "" "0" "" "" "g.23330524A>G" "" "likely pathogenic" "" "0000238027" "1" "75" "13" "23904663" "23904663" "subst" "0" "01567" "SACS_000175" "g.23904663A>G" "" "{PMID:Tzoulis 2013:23785840}" "" "13352T>C;p.Leu4451Pro" "" "Unknown" "?" "" "0" "" "" "g.23330524A>G" "" "likely pathogenic" "" "0000238028" "3" "95" "13" "23904625" "23904625" "subst" "0" "01567" "SACS_000087" "g.23904625C>A" "" "{PMID:Bouhlal 2011:21416271}" "" "13389G>T" "" "Germline" "" "" "0" "" "" "g.23330486C>A" "" "pathogenic" "" "0000238029" "3" "95" "13" "23904625" "23904625" "subst" "0" "01567" "SACS_000087" "g.23904625C>A" "" "{PMID:Bouhlal 2011:21416271}" "" "13389G>T" "" "Germline" "" "" "0" "" "" "g.23330486C>A" "" "pathogenic" "" "0000238030" "3" "75" "13" "23904610" "23904610" "subst" "0" "01567" "SACS_000137" "g.23904610C>G" "" "{PMID:Gazulla 2011:21665375}" "" "13405G>C" "" "Unknown" "?" "" "0" "" "" "g.23330471C>G" "" "likely pathogenic" "" "0000238031" "3" "77" "13" "23904610" "23904610" "subst" "0" "01567" "SACS_000137" "g.23904610C>G" "" "{PMID:Gazulla 2011:21665375}" "" "13405G>C" "" "Unknown" "?" "" "0" "" "" "g.23330471C>G" "" "likely pathogenic" "" "0000238032" "2" "95" "13" "23904492" "23904492" "subst" "0" "01567" "SACS_000077" "g.23904492T>G" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23330353T>G" "" "pathogenic" "" "0000238033" "0" "55" "13" "23904477" "23904477" "subst" "2.43716E-5" "01567" "SACS_000163" "g.23904477C>T" "" "{PMID:Synofzik 2013:23497566}" "" "13538G>A p.Ser4513Asn" "" "Unknown" "?" "" "0" "" "" "g.23330338C>T" "" "VUS" "" "0000238034" "3" "95" "13" "23904370" "23904370" "subst" "0" "01567" "SACS_000022" "g.23904370T>C" "" "{PMID:Richter 2004:15156359}" "" "11471A>G, g.81009A>G" "HEPN" "Germline" "" "" "0" "" "" "g.23330231T>C" "" "pathogenic" "" "0000238035" "1" "95" "13" "23929378" "23929378" "subst" "0.00264812" "01567" "SACS_000152" "g.23929378G>A" "" "{PMID:Romano 2013:23280630}" "" "1373C>T(p.T458I)" "" "Unknown" "?" "" "0" "" "" "g.23355239G>A" "" "pathogenic" "" "0000238036" "3" "55" "13" "23929378" "23929378" "subst" "0.00264812" "01567" "SACS_000152" "g.23929378G>A" "" "{PMID:Synofzik 2013:23497566}" "" "1373C>T p.Thr458Ile" "" "Unknown" "?" "" "0" "" "" "g.23355239G>A" "" "VUS" "" "0000238037" "1" "55" "13" "23929378" "23929378" "subst" "0.00264812" "01567" "SACS_000152" "g.23929378G>A" "" "{PMID:Synofzik 2013:23497566}" "" "1373C>T p.Thr458Ile" "" "Unknown" "?" "" "0" "" "" "g.23355239G>A" "" "VUS" "" "0000238038" "0" "77" "13" "23929378" "23929378" "subst" "0.00264812" "01567" "SACS_000152" "g.23929378G>A" "" "{PMID:Romano 2013:23280630}" "" "1373C>T(p.T458I)" "" "Unknown" "?" "" "0" "" "" "g.23355239G>A" "" "likely pathogenic" "" "0000238039" "1" "95" "13" "23929331" "23929331" "subst" "4.0659E-6" "01567" "SACS_000154" "g.23929331G>A" "" "{PMID:Romano 2013:23280630}" "" "1420C>T(p.R474C)" "" "Unknown" "?" "" "0" "" "" "g.23355192G>A" "" "pathogenic" "" "0000238040" "0" "77" "13" "23929171" "23929171" "subst" "0" "01567" "SACS_000188" "g.23929171G>C" "" "{PMID:Yu-Wai-Man 2014:24457356}" "" "1580C>G (p.Ser527X)" "" "Unknown" "?" "" "0" "" "" "g.23355032G>C" "" "likely pathogenic" "" "0000238041" "1" "75" "13" "23929144" "23929144" "subst" "8.13114E-6" "01567" "SACS_000047" "g.23929144G>A" "" "{PMID:Anheim 2008:18439928}" "" "p.Pro536Leu" "" "Germline" "" "" "0" "" "" "g.23355005G>A" "" "likely pathogenic" "" "0000238042" "1" "75" "13" "23929144" "23929144" "subst" "8.13114E-6" "01567" "SACS_000047" "g.23929144G>A" "" "{PMID:Anheim 2008:18439928}" "" "p.Pro536Leu" "" "Germline" "" "" "0" "" "" "g.23355005G>A" "" "likely pathogenic" "" "0000238043" "2" "75" "13" "23929095" "23929106" "del" "0" "01567" "SACS_000162" "g.23929095_23929106del" "" "{PMID:Synofzik 2013:23497566}" "" "1647_1658del p.Leu549_Leu552del" "" "Unknown" "?" "" "0" "" "" "g.23354956_23354967del" "" "likely pathogenic" "" "0000238044" "3" "95" "13" "23929084" "23929084" "subst" "0" "00006" "SACS_000104" "g.23929084A>G" "" "{PMID:Baets 2010:20876471}" "" "p.Leu556Pro" "" "Germline" "" "" "0" "" "" "g.23354945A>G" "" "pathogenic" "" "0000238045" "1" "75" "13" "23928857" "23928857" "subst" "8.14465E-6" "01567" "SACS_000138" "g.23928857G>A" "" "{PMID:Gazulla 2011:21665375}" "" "1894C>T" "" "Unknown" "?" "" "0" "" "" "g.23354718G>A" "" "likely pathogenic" "" "0000238046" "0" "95" "13" "23928691" "23928691" "del" "0" "01567" "SACS_000016" "g.23928691del" "" "{PMID:Ouyang 2006:16606928}" "" "31760 delT, g.56688delA" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23354552del" "" "pathogenic" "" "0000238047" "10" "77" "13" "23928676" "23928676" "del" "0" "01567" "SACS_000184" "g.23928676del" "" "{PMID:Pyle 2012:22751902}" "" "2076delG (p.Thr692Thrfs*713)" "" "Germline" "" "" "0" "" "" "g.23354537del" "" "likely pathogenic" "" "0000238048" "10" "77" "13" "23928676" "23928676" "del" "0" "01567" "SACS_000184" "g.23928676del" "" "{PMID:Pyle 2012:22751902}" "" "2076delG (p.Thr692Thrfs*713)" "" "Germline" "" "" "0" "" "" "g.23354537del" "" "likely pathogenic" "" "0000238049" "2" "95" "13" "23928017" "23928017" "subst" "0" "01567" "SACS_000039" "g.23928017T>C" "" "{PMID:Vermeer 2008:18465152}" "" "2094-2 A>G, g.56725 A>G" "in ARM-rpt-SK" "Germline" "" "" "0" "" "" "g.23353878T>C" "" "pathogenic" "" "0000238050" "2" "95" "13" "23945260" "23945260" "del" "0" "01567" "SACS_000073" "g.23945260del" "" "{PMID:Baets 2010:20876471}" "" "216delT p.Cys72Cysfs*4" "" "Germline" "" "" "0" "" "" "g.23371121del" "" "pathogenic" "" "0000238051" "3" "95" "13" "23927927" "23927927" "subst" "1.62851E-5" "00006" "SACS_000106" "g.23927927G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Arg728X, g.57452C>T" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23353788G>A" "" "pathogenic" "" "0000238052" "1" "95" "13" "23927927" "23927927" "subst" "1.62851E-5" "01567" "SACS_000106" "g.23927927G>A" "" "{PMID:Synofzik 2013:23497566}" "" "p.Arg728*" "" "Unknown" "?" "" "0" "" "" "g.23353788G>A" "" "pathogenic" "" "0000238053" "0" "99" "13" "23904274" "23915830" "" "0" "01567" "SACS_000186" "g.(?_23904274)_(23915830_23927923)dup" "" "{PMID:Mignarri 2014:24318559}" "" "exon10 dup" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000238054" "3" "95" "13" "23927924" "23927924" "del" "0" "01567" "SACS_000107" "g.23927924del" "" "{PMID:Vermeer 2008:18465152}" "" "1891+1delG (erratum)" "in ARM rpt" "Germline" "" "" "0" "" "" "g.23353785del" "" "pathogenic" "" "0000238055" "3" "95" "13" "23908152" "23920176" "del" "0" "01567" "SACS_000116" "g.23908152_23920176del" "" "{PMID:Prodi 2013:22816526}" "" "2185+7748_9863del12Kb" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000238056" "11" "95" "13" "23915791" "23915791" "subst" "0" "01567" "SACS_000061" "g.23915791G>A" "" "{PMID:Terracciano 2010:20368637}" "" "p.Arg742X" "" "Germline" "" "" "0" "" "" "g.23341652G>A" "" "pathogenic" "" "0000238057" "2" "95" "13" "23915791" "23915791" "subst" "0" "01567" "SACS_000061" "g.23915791G>A" "" "{PMID:Romano 2013:23280630}" "" "2224C>T(p.R472X)" "" "Unknown" "?" "" "0" "" "" "g.23341652G>A" "" "pathogenic" "" "0000238058" "2" "95" "13" "23945240" "23945240" "dup" "0" "01567" "SACS_000090" "g.23945240dup" "" "{PMID:Thiffault 2012:23250129}" "" "237insA" "" "Germline" "" "" "0" "" "" "g.23371101dup" "" "pathogenic" "" "0000238059" "2" "95" "13" "23945240" "23945240" "dup" "0" "01567" "SACS_000090" "g.23945240dup" "" "{PMID:Thiffault 2012:23250129}" "" "237insA" "" "Germline" "" "" "0" "" "" "g.23371101dup" "" "pathogenic" "" "0000238060" "1" "95" "13" "23915630" "23915630" "del" "0" "01567" "SACS_000159" "g.23915630del" "" "{PMID:Synofzik 2013:23497566}" "" "2387delT p.Leu796Tyrfs*13" "" "Unknown" "?" "" "0" "" "" "g.23341491del" "" "pathogenic" "" "0000238061" "1" "95" "13" "23915630" "23915630" "del" "0" "01567" "SACS_000159" "g.23915630del" "" "{PMID:Synofzik 2013:23497566}" "" "2387delT p.Leu796Tyrfs*13" "" "Unknown" "?" "" "0" "" "" "g.23341491del" "" "pathogenic" "" "0000238062" "11" "95" "13" "23915610" "23915610" "subst" "0" "01567" "SACS_000050" "g.23915610A>G" "" "{PMID:Kamada 2008:18484239}" "" "g.2405T>C L802P, g.69769T>C" "" "Germline" "" "" "0" "" "" "g.23341471A>G" "" "pathogenic" "" "0000238063" "1" "95" "13" "23915134" "23915134" "subst" "0" "01567" "SACS_000132" "g.23915134G>A" "" "{PMID:Prodi 2013:22816526}" "" "2881C>T" "" "Unknown" "?" "" "0" "" "" "g.23340995G>A" "" "pathogenic" "" "0000238064" "21" "95" "13" "23915076" "23915077" "del" "0" "01567" "SACS_000183" "g.23915076_23915077del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.23340937_23340938del" "" "pathogenic" "" "0000238065" "21" "95" "13" "23915076" "23915077" "del" "0" "01567" "SACS_000183" "g.23915076_23915077del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.23340937_23340938del" "" "pathogenic" "" "0000238066" "2" "95" "13" "23915044" "23915044" "subst" "0" "01567" "SACS_000101" "g.23915044A>G" "" "{PMID:Baets 2010:20876471}" "" "p.Cys991Arg" "" "Germline" "" "" "0" "" "" "g.23340905A>G" "" "pathogenic" "" "0000238067" "2" "55" "13" "23915032" "23915032" "subst" "0.00190462" "01567" "SACS_000169" "g.23915032C>A" "" "{PMID:Synofzik 2013:23497566}" "" "2983G>T p.Val995Phe" "" "Unknown" "?" "" "0" "" "" "g.23340893C>A" "" "VUS" "" "0000238068" "0" "95" "13" "23914854" "23914854" "subst" "0" "01567" "SACS_000014" "g.23914854A>G" "" "{PMID:Shimazaki 2005:15985586}" "" "F304S, g.70525T>C" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23340715A>G" "" "pathogenic" "" "0000238069" "3" "95" "13" "23914817" "23914817" "subst" "0" "01567" "SACS_000141" "g.23914817A>T" "" "{PMID:Gazulla 2011:21665375}" "" "3198T>A" "" "Unknown" "?" "" "0" "" "" "g.23340678A>T" "" "pathogenic" "" "0000238070" "0" "95" "13" "23914694" "23914694" "dup" "0" "01567" "SACS_000009" "g.23914694dup" "" "{PMID12873855 :El Euch-Fayache 2003}" "" "1155insA, g.70692InsA" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23340555dup" "" "pathogenic" "" "0000238071" "0" "77" "13" "23914664" "23914664" "dup" "0" "01567" "SACS_000190" "g.23914664dup" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.23340525dup" "" "likely pathogenic" "" "0000238072" "1" "95" "13" "23914599" "23914600" "dup" "0" "01567" "SACS_000081" "g.23914599_23914600dup" "" "{PMID:Baets 2010:20876471}" "" "3421_3422insAC" "" "Germline" "" "" "0" "" "" "g.23340460_23340461dup" "" "pathogenic" "" "0000238073" "11" "95" "13" "23914531" "23914531" "subst" "4.06474E-6" "01567" "SACS_000088" "g.23914531C>A" "" "{PMID:Narayanan 2011:21745802}" "" "3484G>T" "" "Germline" "" "" "0" "" "" "g.23340392C>A" "" "pathogenic" "" "0000238074" "11" "95" "13" "23914531" "23914531" "subst" "4.06474E-6" "01567" "SACS_000088" "g.23914531C>A" "" "{PMID:Narayanan 2011:21745802}" "" "3484G>T" "" "Germline" "" "" "0" "" "" "g.23340392C>A" "" "pathogenic" "" "0000238075" "0" "95" "13" "23914431" "23914431" "del" "0" "01567" "SACS_000006" "g.23914431del" "" "{PMID12873855 :El Euch-Fayache 2003}" "" "1411delT, g.70949delT" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23340292del" "" "pathogenic" "" "0000238076" "0" "95" "13" "23914246" "23914246" "subst" "0" "01567" "SACS_000123" "g.23914246C>A" "" "{PMID:Shimazaki 2013:22268491}" "" "p.[G1257X]" "" "Unknown" "?" "" "0" "" "" "g.23340107C>A" "" "pathogenic" "" "0000238077" "1" "95" "13" "23914246" "23914246" "subst" "0" "01567" "SACS_000123" "g.23914246C>A" "" "{PMID:Synofzik 2013:23497566}" "" "3769G>T p.Gly1257*" "" "Unknown" "?" "" "0" "" "" "g.23340107C>A" "" "pathogenic" "" "0000238078" "1" "95" "13" "23914246" "23914246" "subst" "0" "01567" "SACS_000123" "g.23914246C>A" "" "{PMID:Synofzik 2013:23497566}" "" "3769G>T p.Gly1257*" "" "Unknown" "?" "" "0" "" "" "g.23340107C>A" "" "pathogenic" "" "0000238079" "0" "95" "13" "23914083" "23914083" "subst" "0" "01567" "SACS_000026" "g.23914083A>T" "" "{PMID:Ouyang 2008:17716690}" "" "3491T>A, g.71296T>A" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23339944A>T" "" "pathogenic" "" "0000238080" "10" "77" "13" "23914083" "23914083" "subst" "0" "01567" "SACS_000026" "g.23914083A>T" "" "{PMID:Leavitt 2014:25237835}" "" "3491T>A" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23339944A>T" "" "likely pathogenic" "" "0000238081" "21" "77" "13" "23914049" "23914050" "del" "0" "01567" "SACS_000185" "g.23914049_23914050del" "" "{PMID:Pyle 2012:22751902}" "" "3965_3966delAC (p.Gly1322Valfs*1343)" "" "Germline" "" "" "0" "" "" "g.23339910_23339911del" "" "likely pathogenic" "" "0000238082" "21" "77" "13" "23914049" "23914050" "del" "0" "01567" "SACS_000185" "g.23914049_23914050del" "" "{PMID:Pyle 2012:22751902}" "" "3965_3966delAC (p.Gly1322Valfs*1343)" "" "Germline" "" "" "0" "" "" "g.23339910_23339911del" "" "likely pathogenic" "" "0000238083" "0" "35" "13" "23914025" "23914025" "subst" "0" "01567" "SACS_000102" "g.23914025A>Y" "" "{PMID:Guernsey 2010:19892370}" "" "p.Asp1330Glu" "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." "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000238084" "0" "95" "13" "23913981" "23913982" "dup" "0" "01567" "SACS_000010" "g.23913981_23913982dup" "" "{PMID:Criscuolo 2004:14718706}" "" "1859insC, g.71398InsC" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23339842_23339843dup" "" "pathogenic" "" "0000238085" "0" "95" "13" "23913982" "23913982" "subst" "4.07631E-6" "01567" "SACS_000017" "g.23913982G>A" "" "{PMID:Okawa 2006:16421146}" "" "3774C>T, g.71397C>T" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23339843G>A" "" "pathogenic" "" "0000238086" "2" "95" "13" "23913955" "23913955" "subst" "0" "01567" "SACS_000115" "g.23913955G>A" "" "{PMID:Prodi 2013:22816526}" "" "4060C>T" "" "De novo" "" "" "0" "" "" "g.23339816G>A" "" "pathogenic" "" "0000238087" "11" "55" "13" "23913939" "23913939" "subst" "0.00193896" "01567" "SACS_000182" "g.23913939A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.23339800A>G" "" "VUS" "" "0000238088" "11" "55" "13" "23913939" "23913939" "subst" "0.00193896" "01567" "SACS_000182" "g.23913939A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.23339800A>G" "" "VUS" "" "0000238089" "0" "95" "13" "23913907" "23913907" "subst" "0" "01567" "SACS_000001" "g.23913907G>A" "" "{PMID:Grieco 2004:14718707}" "" "Q620*, g.71472C>T" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23339768G>A" "" "pathogenic" "" "0000238090" "0" "95" "13" "23913907" "23913907" "subst" "0" "01567" "SACS_000001" "g.23913907G>A" "" "{PMID:Grieco 2004:14718707}" "" "Q620*, g.71472C>T" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23339768G>A" "" "pathogenic" "" "0000238091" "11" "95" "13" "23913907" "23913907" "subst" "0" "01567" "SACS_000001" "g.23913907G>A" "" "{PMID:Masciullo 2013:24164681}" "" "4108C>T/p.Q1370*, g.71472C>T" "" "Germline" "yes" "" "0" "" "" "g.23339768G>A" "" "pathogenic" "" "0000238092" "11" "95" "13" "23913907" "23913907" "subst" "0" "01567" "SACS_000001" "g.23913907G>A" "" "{PMID:Masciullo 2013:24164681}" "" "4108C>T/p.Q1370*" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23339768G>A" "" "pathogenic" "" "0000238093" "3" "95" "13" "23913870" "23913870" "dup" "0" "01567" "SACS_000117" "g.23913870dup" "" "{PMID:Prodi 2013:22816526}" "" "4145_4146insA" "" "De novo" "" "" "0" "" "" "g.23339731dup" "" "pathogenic" "" "0000238094" "1" "95" "13" "23939348" "23939348" "subst" "0" "01567" "SACS_000121" "g.23939348G>C" "" "{PMID:Haga 2012:22209141}" "" "414C>G" "" "Unknown" "" "" "0" "" "" "g.23365209G>C" "" "pathogenic" "" "0000238095" "0" "95" "13" "23939348" "23939348" "subst" "0" "01567" "SACS_000121" "g.23939348G>C" "" "{PMID:Shimazaki 2013:22268491}" "" "p.[Y138X]" "" "Unknown" "" "" "0" "" "" "g.23365209G>C" "" "pathogenic" "" "0000238096" "3" "95" "13" "23913823" "23913823" "subst" "0" "01567" "SACS_000018" "g.23913823A>G" "" "{PMID:Richter 2004:15156359}" "" "2018T>C, g.71556T>C" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23339684A>G" "" "pathogenic" "" "0000238097" "1" "75" "13" "23913817" "23913817" "subst" "0" "01567" "SACS_000086" "g.23913817A>T" "" "{PMID:Vingolo 2011:21410841}" "" "4198T>A" "" "Unknown" "?" "" "0" "" "" "g.23339678A>T" "" "likely pathogenic" "" "0000238098" "1" "75" "13" "23913817" "23913817" "subst" "0" "01567" "SACS_000086" "g.23913817A>T" "" "{PMID:Vingolo 2011:21410841}" "" "4198T>A" "" "Unknown" "?" "" "0" "" "" "g.23339678A>T" "" "likely pathogenic" "" "0000238099" "1" "95" "13" "23913817" "23913817" "subst" "0" "01567" "SACS_000086" "g.23913817A>T" "" "{PMID:Romano 2013:23280630}" "" "4198T>A(p.Y1400N)" "" "Unknown" "?" "" "0" "" "" "g.23339678A>T" "" "pathogenic" "" "0000238100" "2" "95" "13" "23913810" "23913810" "subst" "0" "01567" "SACS_000093" "g.23913810T>A" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23339671T>A" "" "pathogenic" "" "0000238101" "1" "95" "13" "23913448" "23913448" "subst" "0" "01567" "SACS_000146" "g.23913448A>G" "" "" "" "4567T>C(p.W1523R)" "" "Unknown" "?" "" "0" "" "" "g.23339309A>G" "" "pathogenic" "" "0000238102" "3" "95" "13" "23913422" "23913422" "dup" "0" "01567" "SACS_000110" "g.23913422dup" "" "{PMID:Prodi 2013:22816526}" "" "4593dupA" "" "De novo" "" "" "0" "" "" "g.23339283dup" "" "pathogenic" "" "0000238103" "1" "95" "13" "23913291" "23913291" "subst" "0" "01567" "SACS_000082" "g.23913291C>G" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23339152C>G" "" "pathogenic" "" "0000238104" "2" "95" "13" "23913271" "23913271" "subst" "0" "01567" "SACS_000089" "g.23913271C>T" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23339132C>T" "" "pathogenic" "" "0000238105" "2" "95" "13" "23913271" "23913271" "subst" "0" "01567" "SACS_000089" "g.23913271C>T" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23339132C>T" "" "pathogenic" "" "0000238106" "2" "95" "13" "23913271" "23913271" "subst" "0" "01567" "SACS_000089" "g.23913271C>T" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23339132C>T" "" "pathogenic" "" "0000238107" "2" "95" "13" "23913271" "23913271" "subst" "0" "01567" "SACS_000089" "g.23913271C>T" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23339132C>T" "" "pathogenic" "" "0000238108" "2" "95" "13" "23913271" "23913271" "subst" "0" "01567" "SACS_000089" "g.23913271C>T" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23339132C>T" "" "pathogenic" "" "0000238109" "1" "95" "13" "23913267" "23913267" "subst" "0" "01567" "SACS_000148" "g.23913267G>C" "" "{PMID:Romano 2013:23280630}" "" "4748C>G(p.P1583R)" "" "Unknown" "?" "" "0" "" "" "g.23339128G>C" "" "pathogenic" "" "0000238110" "2" "95" "13" "23913255" "23913255" "subst" "0" "01567" "SACS_000080" "g.23913255T>C" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23339116T>C" "" "pathogenic" "" "0000238111" "3" "95" "13" "23913239" "23913240" "ins" "0" "01567" "SACS_000111" "g.23913239_23913240insT" "" "{PMID:Prodi 2013:22816526}" "" "4775_4776insA" "" "De novo" "" "" "0" "" "" "g.23339100_23339101insT" "" "pathogenic" "" "0000238112" "20" "95" "13" "23932597" "23932597" "del" "0" "01567" "SACS_000049" "g.23932597del" "" "{PMID:Kamada 2008:18484239}" "" "g.482delA N161Fs*175, g.52784delC" "" "Germline" "" "" "0" "" "" "g.23358458del" "" "pathogenic" "" "0000238113" "20" "95" "13" "23932597" "23932597" "del" "0" "01567" "SACS_000049" "g.23932597del" "" "{PMID:Kamada 2008:18484239}" "" "g.482delA" "" "Germline" "" "" "0" "" "" "g.23358458del" "" "pathogenic" "" "0000238114" "0" "95" "13" "23913129" "23913133" "delins" "0" "01567" "SACS_000062" "g.23913129_23913133delinsGCTTCT" "" "{PMID:Brahim 2011:20798953}" "" "4882_4886delCAGTTinsAGAAGC" "" "Germline" "" "" "0" "" "" "g.23338990_23338994delinsGCTTCT" "" "pathogenic" "" "0000238115" "1" "95" "13" "23913081" "23913081" "subst" "0" "01567" "SACS_000151" "g.23913081C>T" "" "{PMID:Romano 2013:23280630}" "" "4934G>A(p.R1645Q)" "" "Unknown" "?" "" "0" "" "" "g.23338942C>T" "" "pathogenic" "" "0000238116" "1" "95" "13" "23913061" "23913061" "subst" "0" "01567" "SACS_000168" "g.23913061G>A" "" "{PMID:Synofzik 2013:23497566}" "" "4954C>T p.Gln1652*" "" "Unknown" "?" "" "0" "" "" "g.23338922G>A" "" "pathogenic" "" "0000238117" "3" "95" "13" "23913058" "23913058" "subst" "0" "00006" "SACS_000108" "g.23913058C>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Glu1653X" "" "Germline" "" "" "0" "" "" "g.23338919C>A" "" "pathogenic" "" "0000238118" "3" "95" "13" "23932576" "23932576" "subst" "0" "00006" "SACS_000105" "g.23932576C>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Asp168Tyr" "ATPase domain" "Germline" "" "" "0" "" "" "g.23358437C>A" "" "pathogenic" "" "0000238119" "2" "95" "13" "23912890" "23912890" "subst" "4.11756E-6" "01567" "SACS_000034" "g.23912890G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Gln1709*, g.72489C>T" "in Rpt2/ARM-rpt" "Germline" "" "" "0" "" "" "g.23338751G>A" "" "pathogenic" "" "0000238120" "2" "95" "13" "23912890" "23912890" "subst" "4.11756E-6" "01567" "SACS_000034" "g.23912890G>A" "" "{PMID:Synofzik 2013:23497566}" "" "5125C>T p.Gln1709*" "" "Unknown" "?" "" "0" "" "" "g.23338751G>A" "" "pathogenic" "" "0000238121" "2" "95" "13" "23912872" "23912872" "subst" "2.50608E-5" "01567" "SACS_000032" "g.23912872T>A" "" "{PMID:Vermeer 2008:18465152}" "" "p.Lys1715*, g.72507A>T" "in Rpt2/ARM-rpt" "Germline" "" "" "0" "" "" "g.23338733T>A" "" "pathogenic" "" "0000238122" "11" "75" "13" "23912872" "23912872" "dup" "0" "01567" "SACS_000127" "g.23912872dup" "" "{PMID:Stevens 2013:23123642}" "" "5151dupA" "" "Unknown" "?" "" "0" "" "" "g.23338733dup" "" "likely pathogenic" "" "0000238123" "1" "95" "13" "23912815" "23912816" "del" "0" "01567" "SACS_000012" "g.23912815_23912816del" "" "{PMID:Yamamoto 2005:16198375}" "" "2951_2952delAG, g.72565-72566delAG" "in Rpt2/ARM-rpt" "Germline" "" "" "0" "" "" "g.23338676_23338677del" "" "pathogenic" "" "0000238124" "2" "95" "13" "23912752" "23912753" "del" "0" "01567" "SACS_000122" "g.23912752_23912753del" "" "{PMID:Haga 2012:22209141}" "" "5263-4delAA" "" "Unknown" "" "" "0" "" "" "g.23338613_23338614del" "" "pathogenic" "" "0000238125" "0" "95" "13" "23912752" "23912753" "del" "0" "01567" "SACS_000122" "g.23912752_23912753del" "" "{PMID:Shimazaki 2013:22268491}" "" "p.[K1755VfsX1775]" "" "Unknown" "?" "" "0" "" "" "g.23338613_23338614del" "" "pathogenic" "" "0000238126" "1" "95" "13" "23912471" "23912471" "dup" "0" "01567" "SACS_000164" "g.23912471dup" "" "{PMID:Synofzik 2013:23497566}" "" "5544dupA p.Val1849Serfs*48" "" "Unknown" "?" "" "0" "" "" "g.23338332dup" "" "pathogenic" "" "0000238127" "3" "95" "13" "23912386" "23912386" "subst" "8.15076E-6" "01567" "SACS_000067" "g.23912386G>A" "" "{PMID:Anesi 2011:20852969}" "" "5629C>T" "" "Germline" "" "" "0" "" "" "g.23338247G>A" "" "pathogenic" "" "0000238128" "1" "95" "13" "23912376" "23912376" "subst" "0" "01567" "SACS_000153" "g.23912376G>A" "" "{PMID:Romano 2013:23280630}" "" "5639C>T(p.T1880I)" "" "Unknown" "?" "" "0" "" "" "g.23338237G>A" "" "pathogenic" "" "0000238129" "2" "75" "13" "23912296" "23912296" "subst" "4.06418E-6" "01567" "SACS_000126" "g.23912296G>A" "" "{PMID:Vingolo 2011:21410841}" "" "5719C>T" "" "Unknown" "?" "" "0" "" "" "g.23338157G>A" "" "likely pathogenic" "" "0000238130" "2" "75" "13" "23912296" "23912296" "subst" "4.06418E-6" "01567" "SACS_000126" "g.23912296G>A" "" "{PMID:Vingolo 2011:21410841}" "" "5719C>T" "" "Unknown" "?" "" "0" "" "" "g.23338157G>A" "" "likely pathogenic" "" "0000238131" "1" "95" "13" "23912296" "23912296" "subst" "4.06418E-6" "01567" "SACS_000126" "g.23912296G>A" "" "{PMID:Vingolo 2011:21410841}" "" "5719C>T" "" "Unknown" "?" "" "0" "" "" "g.23338157G>A" "" "pathogenic" "" "0000238132" "2" "95" "13" "23912296" "23912296" "subst" "4.06418E-6" "01567" "SACS_000126" "g.23912296G>A" "" "{PMID:Romano 2013:23280630}" "" "5719C>T(p.R1907X)" "" "Unknown" "?" "" "0" "" "" "g.23338157G>A" "" "pathogenic" "" "0000238133" "2" "95" "13" "23912296" "23912296" "subst" "4.06418E-6" "01567" "SACS_000126" "g.23912296G>A" "" "{PMID:Romano 2013:23280630}" "" "5719C>T(p.R1907X)" "" "Unknown" "?" "" "0" "" "" "g.23338157G>A" "" "pathogenic" "" "0000238134" "0" "95" "13" "23912179" "23912179" "subst" "0" "01567" "SACS_000002" "g.23912179A>G" "" "{PMID12873855 :El Euch-Fayache 2003}" "" "3662T>C, g.73200T>C" "in Rpt2/ARM-rpt" "Germline" "" "" "0" "" "" "g.23338040A>G" "" "pathogenic" "" "0000238135" "2" "95" "13" "23912179" "23912179" "subst" "0" "01567" "SACS_000002" "g.23912179A>G" "" "{PMID12873855 :El Euch-Fayache 2003}" "" "3662T>C, g.73200T>C" "in Rpt2/ARM-rpt" "Germline" "" "" "0" "" "" "g.23338040A>G" "" "pathogenic" "" "0000238136" "2" "95" "13" "23912179" "23912179" "subst" "0" "01567" "SACS_000002" "g.23912179A>G" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23338040A>G" "" "pathogenic" "" "0000238137" "1" "95" "13" "23912179" "23912179" "subst" "0" "01567" "SACS_000002" "g.23912179A>G" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23338040A>G" "" "pathogenic" "" "0000238138" "1" "95" "13" "23912179" "23912179" "subst" "0" "01567" "SACS_000002" "g.23912179A>G" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23338040A>G" "" "pathogenic" "" "0000238139" "1" "95" "13" "23912179" "23912179" "subst" "0" "01567" "SACS_000002" "g.23912179A>G" "" "{PMID12873855 :El Euch-Fayache 2003}" "" "03662T>C" "" "Germline" "" "" "0" "" "" "g.23338040A>G" "" "pathogenic" "" "0000238140" "2" "75" "13" "23912175" "23912175" "subst" "0" "01567" "SACS_000172" "g.23912175G>C" "" "{PMID:Chen 2013:23726790}" "" "5840C>G p.Pro1947Arg" "" "Unknown" "?" "" "0" "" "" "g.23338036G>C" "" "likely pathogenic" "" "0000238141" "2" "75" "13" "23912175" "23912175" "subst" "0" "01567" "SACS_000172" "g.23912175G>C" "" "{PMID:Chen 2013:23726790}" "" "5840C>G p.Pro1947Arg" "" "Unknown" "?" "" "0" "" "" "g.23338036G>C" "" "likely pathogenic" "" "0000238142" "21" "75" "13" "23912067" "23912067" "subst" "0" "01567" "SACS_000129" "g.23912067G>A" "" "{PMID:Stevens 2013:23123642}" "" "5948C>T" "" "Unknown" "?" "" "0" "" "" "g.23337928G>A" "" "likely pathogenic" "" "0000238143" "0" "95" "13" "23912026" "23912027" "del" "0" "01567" "SACS_000025" "g.23912026_23912027del" "" "{PMID:Shimazaki 2007:17349660}" "" "5988_5989delCT, g.del73352-73353 (CT)" "" "Germline" "" "" "0" "" "" "g.23337887_23337888del" "" "pathogenic" "" "0000238144" "1" "95" "13" "23932473" "23932478" "del" "0" "01567" "SACS_000056" "g.23932473_23932478del" "" "{PMID:Terracciano 2008:19031088}" "" "600_604+1delAACAGG (p.I202fsX6)" "" "Germline" "" "" "0" "" "" "g.23358334_23358339del" "" "pathogenic" "" "0000238145" "1" "95" "13" "23932476" "23932476" "subst" "0" "01567" "SACS_000078" "g.23932476G>T" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23358337G>T" "" "pathogenic" "" "0000238146" "2" "95" "13" "23911924" "23911926" "del" "0" "01567" "SACS_000100" "g.23911924_23911926del" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23337785_23337787del" "" "pathogenic" "" "0000238147" "3" "95" "13" "23911848" "23911849" "del" "0" "01567" "SACS_000144" "g.23911848_23911849del" "" "{PMID:Desserre 2011:21597885}" "" "6166_6177delTT" "" "Germline" "?" "" "0" "" "" "g.23337709_23337710del" "" "pathogenic" "" "0000238148" "2" "95" "13" "23911849" "23911849" "del" "0" "01567" "SACS_000013" "g.23911849del" "" "{PMID:Yamamoto 2005:16198375}" "" "3922delT, g.73535delT" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23337710del" "" "pathogenic" "" "0000238149" "1" "95" "13" "23911725" "23911725" "del" "0" "01567" "SACS_000097" "g.23911725del" "" "{PMID:Thiffault 2012:23250129}" "" "6290delG" "" "Germline" "" "" "0" "" "" "g.23337586del" "" "pathogenic" "" "0000238150" "1" "95" "13" "23911660" "23911660" "subst" "0" "01567" "SACS_000053" "g.23911660G>A" "" "{PMID:Hara 2007:17516465}" "" "" "" "Germline" "" "" "0" "" "" "g.23337521G>A" "" "pathogenic" "" "0000238151" "2" "95" "13" "23911660" "23911660" "subst" "0" "01567" "SACS_000053" "g.23911660G>A" "" "{PMID:Hara 2007:17516465}" "" "" "" "Germline" "" "" "0" "" "" "g.23337521G>A" "" "pathogenic" "" "0000238152" "1" "95" "13" "23911660" "23911660" "subst" "0" "01567" "SACS_000053" "g.23911660G>A" "" "{PMID:Hara 2007:17516465}" "" "" "" "Germline" "" "" "0" "" "" "g.23337521G>A" "" "pathogenic" "" "0000238153" "2" "95" "13" "23911660" "23911660" "subst" "0" "01567" "SACS_000053" "g.23911660G>A" "" "{PMID:Hara 2007:17516465}" "" "" "" "Germline" "" "" "0" "" "" "g.23337521G>A" "" "pathogenic" "" "0000238154" "21" "75" "13" "23911624" "23911624" "del" "0" "01567" "SACS_000128" "g.23911624del" "" "{PMID:Stevens 2013:23123642}" "" "6392delT" "" "Unknown" "?" "" "0" "" "" "g.23337485del" "" "likely pathogenic" "" "0000238155" "0" "95" "13" "23911606" "23911606" "subst" "0" "01567" "SACS_000063" "g.23911606G>A" "" "{PMID:Brahim 2011:20798953}" "" "6409C>T" "" "Germline" "" "" "0" "" "" "g.23337467G>A" "" "pathogenic" "" "0000238156" "11" "95" "13" "23911581" "23911581" "subst" "4.09578E-6" "01567" "SACS_000181" "g.23911581A>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.23337442A>T" "" "pathogenic" "" "0000238157" "11" "95" "13" "23911581" "23911581" "subst" "4.09578E-6" "01567" "SACS_000181" "g.23911581A>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.23337442A>T" "" "pathogenic" "" "0000238158" "2" "95" "13" "23911355" "23911355" "del" "0" "01567" "SACS_000179" "g.23911355del" "" "" "" "6663delA" "mutation identified by Sanger sequencing, results not available when article submitted {PMID23250129:Thiffault 2012}" "Unknown" "?" "" "0" "" "" "g.23337216del" "" "pathogenic" "" "0000238159" "0" "77" "13" "23911234" "23911234" "subst" "0.00489223" "01567" "SACS_000189" "g.23911234G>T" "" "{PMID:Yu-Wai-Man 2014:24457356}" "" "6781C>A (p.Leu2261Ile)" "" "Unknown" "?" "" "0" "" "" "g.23337095G>T" "" "likely pathogenic" "" "0000238160" "0" "95" "13" "23911180" "23911180" "dup" "0" "01567" "SACS_000011" "g.23911180dup" "" "{PMID:Grieco 2004:14718707}" "" "4585insA, g.74198InsA" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23337041dup" "" "pathogenic" "" "0000238161" "21" "95" "13" "23911180" "23911180" "dup" "0" "01567" "SACS_000011" "g.23911180dup" "" "{PMID:Masciullo 2013:24164681}" "" "6837insA/p.K2279fs11*" "" "Germline" "" "" "0" "" "" "g.23337041dup" "" "pathogenic" "" "0000238162" "2" "75" "13" "23911125" "23911125" "subst" "0" "01567" "SACS_000176" "g.23911125A>C" "" "{PMID:Tzoulis 2013:23785840}" "" "6890T>G;p.Leu2297Trp" "" "Unknown" "?" "" "0" "" "" "g.23336986A>C" "" "likely pathogenic" "" "0000238163" "2" "75" "13" "23911125" "23911125" "subst" "0" "01567" "SACS_000176" "g.23911125A>C" "" "{PMID:Tzoulis 2013:23785840}" "" "6890T>G;p.Leu2297Trp" "" "Unknown" "?" "" "0" "" "" "g.23336986A>C" "" "likely pathogenic" "" "0000238164" "2" "75" "13" "23911125" "23911125" "subst" "0" "01567" "SACS_000176" "g.23911125A>C" "" "{PMID:Tzoulis 2013:23785840}" "" "6890T>G;p.Leu2297Trp" "" "Unknown" "?" "" "0" "" "" "g.23336986A>C" "" "likely pathogenic" "" "0000238165" "2" "75" "13" "23910894" "23910894" "subst" "0" "01567" "SACS_000055" "g.23910894A>G" "" "{PMID:Terracciano 2008:19031088}" "" "6680T>C/p.L2374S and 7302T>C/p.Leu2374Ser" "" "Germline" "" "" "0" "" "" "g.23336755A>G" "" "likely pathogenic" "" "0000238166" "21" "77" "13" "23910875" "23910875" "subst" "0.000293024" "01567" "SACS_000194" "g.23910875A>T" "" "{PMID: Blumkin 2015:25819952}" "" "T7140A(N2380K)" "" "Germline" "yes" "" "0" "" "" "g.23336736A>T" "" "likely pathogenic" "" "0000238167" "0" "95" "13" "23910763" "23910767" "del" "0" "01567" "SACS_000008" "g.23910763_23910767del" "" "{PMID:Grieco 2004:14718707}" "" "4999_5003delCAGAA, g.74614delCAGAA" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23336624_23336628del" "" "pathogenic" "" "0000238168" "3" "95" "13" "23910760" "23910764" "del" "0" "01567" "SACS_000135" "g.23910760_23910764del" "" "{PMID:Prodi 2013:22816526}" "" "7255-7259delGAGAA" "" "Unknown" "?" "" "0" "" "" "g.23336621_23336625del" "" "pathogenic" "" "0000238169" "2" "95" "13" "23910739" "23910739" "subst" "0" "01567" "SACS_000079" "g.23910739G>A" "" "{PMID:Baets 2010:20876471}" "" "" "" "Germline" "" "" "0" "" "" "g.23336600G>A" "" "pathogenic" "" "0000238170" "1" "75" "13" "23910738" "23910738" "subst" "0" "01567" "SACS_000166" "g.23910738C>G" "" "{PMID:Synofzik 2013:23497566}" "" "7277G>C p.Arg2426Pro" "" "Unknown" "?" "" "0" "" "" "g.23336599C>G" "" "likely pathogenic" "" "0000238171" "0" "95" "13" "23910641" "23910645" "del" "0" "01567" "SACS_000064" "g.23910641_23910645del" "" "{PMID:Brahim 2011:20798953}" "" "7372_7376delCTTAT" "" "Germline" "" "" "0" "" "" "g.23336502_23336506del" "" "pathogenic" "" "0000238172" "2" "95" "13" "23910642" "23910642" "del" "0" "01567" "SACS_000071" "g.23910642del" "" "{PMID:Baets 2010:20876471}" "" "7374delT p.[Leu2458LeufsX16]" "" "De novo" "" "" "0" "" "" "g.23336503del" "" "pathogenic" "" "0000238173" "2" "55" "13" "23910526" "23910526" "subst" "0" "01567" "SACS_000180" "g.23910526C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.23336387C>T" "" "VUS" "" "0000238174" "2" "55" "13" "23910526" "23910526" "subst" "0" "01567" "SACS_000180" "g.23910526C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.23336387C>T" "" "VUS" "" "0000238175" "0" "95" "13" "23910511" "23910511" "subst" "2.03171E-5" "01567" "SACS_000003" "g.23910511G>A" "" "{PMID:Engert 2000:10655055}" "" "g.5254 C>T, g.74868 C>T" "in Rpt3/ARM-rpt" "Germline" "" "" "0" "" "" "g.23336372G>A" "" "pathogenic" "" "0000238176" "0" "95" "13" "23910342" "23910342" "subst" "4.06448E-6" "01567" "SACS_000046" "g.23910342G>A" "" "{PMID:Anheim 2008:18439928}" "" "A2558V, g.75037C>T" "" "Germline" "" "" "0" "" "" "g.23336203G>A" "" "pathogenic" "" "0000238177" "2" "75" "13" "23910342" "23910342" "subst" "4.06448E-6" "01567" "SACS_000046" "g.23910342G>A" "" "{PMID:Anheim 2008:18439928}" "" "p.Ala2558Val, g.75037C>T" "" "Germline" "" "" "0" "" "" "g.23336203G>A" "" "likely pathogenic" "" "0000238178" "2" "75" "13" "23910342" "23910342" "subst" "4.06448E-6" "01567" "SACS_000046" "g.23910342G>A" "" "{PMID:Anheim 2008:18439928}" "" "p.Ala2558Val" "" "Germline" "" "" "0" "" "" "g.23336203G>A" "" "likely pathogenic" "" "0000238179" "0" "95" "13" "23909908" "23909908" "subst" "4.06865E-6" "01567" "SACS_000024" "g.23909908G>A" "" "{PMID:Criscuolo 2005:16007637}" "" "7848C>T, g.75471C>T" "in Rpt3/ARM-rpt" "Germline" "" "" "0" "" "" "g.23335769G>A" "" "pathogenic" "" "0000238180" "3" "75" "13" "23909908" "23909908" "subst" "4.06865E-6" "01567" "SACS_000024" "g.23909908G>A" "" "{PMID:Garcia 2008:17683082}" "" "7848C>T" "in Rpt3/ARM-rpt" "Germline" "" "" "0" "" "" "g.23335769G>A" "" "likely pathogenic" "" "0000238181" "3" "75" "13" "23909908" "23909908" "subst" "4.06865E-6" "01567" "SACS_000024" "g.23909908G>A" "" "{PMID:Garcia 2008:17683082}" "" "7848C>T" "in Rpt3/ARM-rpt" "Germline" "" "" "0" "" "" "g.23335769G>A" "" "likely pathogenic" "" "0000238182" "2" "95" "13" "23929937" "23929937" "subst" "1.21851E-5" "01567" "SACS_000059" "g.23929937G>A" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23355798G>A" "" "pathogenic" "" "0000238183" "2" "95" "13" "23929937" "23929937" "subst" "1.21851E-5" "01567" "SACS_000059" "g.23929937G>A" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23355798G>A" "" "pathogenic" "" "0000238184" "1" "95" "13" "23929937" "23929937" "subst" "1.21851E-5" "01567" "SACS_000059" "g.23929937G>A" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23355798G>A" "" "pathogenic" "" "0000238185" "2" "95" "13" "23929937" "23929937" "subst" "1.21851E-5" "01567" "SACS_000059" "g.23929937G>A" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23355798G>A" "" "pathogenic" "" "0000238186" "3" "95" "13" "23929937" "23929937" "subst" "1.21851E-5" "01567" "SACS_000059" "g.23929937G>A" "" "{PMID:Guernsey 2010:19892370}" "" "814C>T" "" "Germline" "" "" "0" "" "" "g.23355798G>A" "" "pathogenic" "" "0000238187" "3" "95" "13" "23929937" "23929937" "subst" "1.21851E-5" "01567" "SACS_000059" "g.23929937G>A" "" "{PMID:Guernsey 2010:19892370}" "" "814C>T" "" "Germline" "" "" "0" "" "" "g.23355798G>A" "" "pathogenic" "" "0000238188" "3" "95" "13" "23929937" "23929937" "subst" "1.21851E-5" "01567" "SACS_000059" "g.23929937G>A" "" "{PMID:Guernsey 2010:19892370}" "" "814C>T" "" "Germline" "" "" "0" "" "" "g.23355798G>A" "" "pathogenic" "" "0000238189" "0" "95" "13" "23929937" "23929937" "subst" "1.21851E-5" "01567" "SACS_000059" "g.23929937G>A" "" "{PMID:Guernsey 2010:19892370}" "" "814C>T" "" "Germline" "" "" "0" "" "" "g.23355798G>A" "" "pathogenic" "" "0000238190" "0" "95" "13" "23929937" "23929937" "subst" "1.21851E-5" "01567" "SACS_000059" "g.23929937G>A" "" "{PMID:Guernsey 2010:19892370}" "" "814C>T" "" "Germline" "" "" "0" "" "" "g.23355798G>A" "" "pathogenic" "" "0000238191" "0" "95" "13" "23929937" "23929937" "subst" "1.21851E-5" "01567" "SACS_000059" "g.23929937G>A" "" "{PMID:Guernsey 2010:19892370}" "" "814C>T" "" "Germline" "" "" "0" "" "" "g.23355798G>A" "" "pathogenic" "" "0000238192" "3" "95" "13" "23929936" "23929936" "subst" "4.06174E-6" "01567" "SACS_000150" "g.23929936C>T" "" "{PMID:Romano 2013:23280630}" "" "815G>A(p.R272H)" "" "Unknown" "?" "" "0" "" "" "g.23355797C>T" "" "pathogenic" "" "0000238193" "1" "75" "13" "23929925" "23929925" "subst" "0" "01567" "SACS_000130" "g.23929925G>A" "" "{PMID:Prodi 2013:22816526}" "" "826C>T" "" "Germline" "?" "" "0" "" "" "g.23355786G>A" "" "likely pathogenic" "" "0000238194" "1" "75" "13" "23929925" "23929925" "subst" "0" "01567" "SACS_000130" "g.23929925G>A" "" "{PMID:Prodi 2013:22816526}" "" "826C>T" "" "Germline" "?" "" "0" "" "" "g.23355786G>A" "" "likely pathogenic" "" "0000238195" "1" "95" "13" "23909724" "23909726" "del" "0" "01567" "SACS_000142" "g.23909724_23909726del" "" "{PMID:Desserre 2011:21597885}" "" "8289_8291delTTC" "" "Unknown" "?" "" "0" "" "" "g.23335585_23335587del" "" "pathogenic" "" "0000238196" "2" "95" "13" "23909724" "23909726" "del" "0" "01567" "SACS_000142" "g.23909724_23909726del" "" "{PMID:Romano 2013:23280630}" "" "8289_8291delTTC(p.Y2763X)" "" "Unknown" "?" "" "0" "" "" "g.23335585_23335587del" "" "pathogenic" "" "0000238197" "1" "95" "13" "23929919" "23929919" "subst" "0" "01567" "SACS_000139" "g.23929919G>A" "" "{PMID:Gazulla 2011:21665375}" "" "832C>T" "" "Unknown" "?" "" "0" "" "" "g.23355780G>A" "" "pathogenic" "" "0000238198" "1" "95" "13" "23929919" "23929919" "subst" "0" "01567" "SACS_000139" "g.23929919G>A" "" "{PMID:Gazulla 2011:21665375}" "" "832C>T" "" "Unknown" "?" "" "0" "" "" "g.23355780G>A" "" "pathogenic" "" "0000238199" "3" "95" "13" "23909622" "23909622" "subst" "0.00161844" "00006" "SACS_000084" "g.23909622G>T" "" "{PMID:Baets 2010:20876471}" "" "p.Pro2798Gln" "" "Germline" "" "" "0" "" "" "g.23335483G>T" "" "pathogenic" "" "0000238200" "1" "95" "13" "23909615" "23909617" "del" "0" "01567" "SACS_000042" "g.23909615_23909617del" "" "{PMID:Vermeer 2008:18465152}" "" "p.2801delGln, g.75785delCAA" "in Rpt3/ARM-rpt" "Germline" "" "" "0" "" "" "g.23335476_23335478del" "" "pathogenic" "" "0000238201" "2" "95" "13" "23909615" "23909617" "del" "0" "01567" "SACS_000042" "g.23909615_23909617del" "" "{PMID:Vermeer 2008:18465152}" "" "p.2801delGln, g.75785delCAA" "in Rpt3/ARM-rpt" "Germline" "" "" "0" "" "" "g.23335476_23335478del" "" "pathogenic" "" "0000238202" "2" "95" "13" "23909431" "23909431" "subst" "0" "01567" "SACS_000157" "g.23909431T>A" "" "{PMID:Synofzik 2013:23497566}" "" "8584A>T p.Lys2862*" "" "Unknown" "?" "" "0" "" "" "g.23335292T>A" "" "pathogenic" "" "0000238203" "2" "95" "13" "23909431" "23909431" "subst" "0" "01567" "SACS_000157" "g.23909431T>A" "" "{PMID:Synofzik 2013:23497566}" "" "8584A>T p.Lys2862*" "" "Unknown" "?" "" "0" "" "" "g.23335292T>A" "" "pathogenic" "" "0000238204" "2" "95" "13" "23909338" "23909338" "subst" "0" "01567" "SACS_000149" "g.23909338T>A" "" "{PMID:Romano 2013:23280630}" "" "8677A>T(p.R2893X)" "" "Unknown" "?" "" "0" "" "" "g.23335199T>A" "" "pathogenic" "" "0000238205" "0" "95" "13" "23909276" "23909276" "del" "0" "01567" "SACS_000019" "g.23909276del" "" "{PMID:Hara 2005:15486997}" "" "6543delA, g.76157delA" "in Rpt3/ARM-rpt" "Germline" "" "" "0" "" "" "g.23335137del" "" "pathogenic" "" "0000238206" "0" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Engert 2000:10655055}" "" "g.6594delT, g.76208delT" "in Rpt3/ARM-rpt" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238207" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238208" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238209" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238210" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238211" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238212" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238213" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238214" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238215" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238216" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238217" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238218" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238219" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238220" "0" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Engert 2000:10655055}" "" "g.6594delT" "" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238221" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "{PMID:Thiffault 2012:23250129}" "" "8844delT" "in Rpt3/ARM-rpt" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238222" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "" "" "8844delT" "in Rpt3/ARM-rpt" "Germline" "?" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238223" "1" "95" "13" "23909171" "23909171" "del" "6.10625E-5" "01567" "SACS_000007" "g.23909171del" "" "" "" "8844delT" "in Rpt3/ARM-rpt" "Germline" "" "" "0" "" "" "g.23335032del" "" "pathogenic" "" "0000238224" "2" "95" "13" "23909094" "23909097" "dup" "0" "01567" "SACS_000167" "g.23909094_23909097dup" "" "{PMID:Synofzik 2013:23497566}" "" "8920_8923dup p.Tyr2975Phefs*29" "" "Unknown" "?" "" "0" "" "" "g.23334955_23334958dup" "" "pathogenic" "" "0000238225" "2" "95" "13" "23908930" "23908930" "del" "0" "01567" "SACS_000098" "g.23908930del" "" "{PMID:Thiffault 2012:23250129}" "" "9086delA" "" "Germline" "" "" "0" "" "" "g.23334791del" "" "pathogenic" "" "0000238226" "1" "95" "13" "23929829" "23929829" "subst" "0" "01567" "SACS_000051" "g.23929829G>A" "" "{PMID:Takado 2007:17290461}" "" "922C>T" "" "Germline" "" "" "0" "" "" "g.23355690G>A" "" "pathogenic" "" "0000238227" "2" "95" "13" "23929829" "23929829" "subst" "0" "01567" "SACS_000051" "g.23929829G>A" "" "{PMID:Takado 2007:17290461}" "" "922C>T" "" "Germline" "" "" "0" "" "" "g.23355690G>A" "" "pathogenic" "" "0000238228" "1" "95" "13" "23929829" "23929829" "subst" "0" "01567" "SACS_000051" "g.23929829G>A" "" "{PMID:Takado 2007:17290461}" "" "922C>T" "" "Germline" "" "" "0" "" "" "g.23355690G>A" "" "pathogenic" "" "0000238229" "2" "95" "13" "23929829" "23929829" "subst" "0" "01567" "SACS_000051" "g.23929829G>A" "" "{PMID:Takado 2007:17290461}" "" "922C>T" "" "Germline" "" "" "0" "" "" "g.23355690G>A" "" "pathogenic" "" "0000238230" "3" "75" "13" "23908734" "23908734" "dup" "0" "01567" "SACS_000193" "g.23908734dup" "" "" "" "9284dupC p.Ala3096Cysfs*2" "novel SACSvariant deviates from the French Canadian ARSACS Phenotype, AUTHOR(S), McKenzie, E.D.; Sharma, P.N.; Parboosingh, J.S.; Suchowersky, O., PUB. DATE, January 2014, SOURCE, Canadian Journal of Neurological Sciences;Jan2014, Vol. 41 Issue 1, p88," "Germline" "yes" "" "0" "" "" "g.23334595dup" "" "likely pathogenic" "" "0000238231" "3" "95" "13" "23908715" "23908715" "dup" "0" "01567" "SACS_000155" "g.23908715dup" "" "{PMID:Synofzik 2013:23497566}" "" "9305_9306insT p.Leu3102Phefs*8" "" "Unknown" "?" "" "0" "" "" "g.23334576dup" "" "pathogenic" "" "0000238232" "3" "95" "13" "23908715" "23908715" "dup" "0" "01567" "SACS_000155" "g.23908715dup" "" "{PMID:Synofzik 2013:23497566}" "" "9305_9306insT p.Leu3102Phefs*8" "" "Unknown" "?" "" "0" "" "" "g.23334576dup" "" "pathogenic" "" "0000238233" "3" "95" "13" "23908519" "23908520" "del" "0" "01567" "SACS_000178" "g.23908519_23908520del" "" "{PMID:Thiffault 2012:23250129}" "" "9497-9498delTT (p.F3166X)" "" "Unknown" "?" "" "0" "" "" "g.23334380_23334381del" "" "pathogenic" "" "0000238234" "2" "95" "13" "23908507" "23908507" "subst" "4.07734E-6" "01567" "SACS_000092" "g.23908507G>A" "" "{PMID:Thiffault 2012:23250129}" "" "" "" "Germline" "" "" "0" "" "" "g.23334368G>A" "" "pathogenic" "" "0000238235" "2" "95" "13" "23929790" "23929790" "subst" "4.06213E-6" "01567" "SACS_000035" "g.23929790G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p. Arg321*" "no domain" "Germline" "" "" "0" "" "" "g.23355651G>A" "" "pathogenic" "" "0000238236" "2" "95" "13" "23929790" "23929790" "subst" "4.06213E-6" "01567" "SACS_000035" "g.23929790G>A" "" "{PMID:Vermeer 2008:18465152}" "" "p. Arg321*" "no domain" "Germline" "" "" "0" "" "" "g.23355651G>A" "" "pathogenic" "" "0000238237" "3" "95" "13" "23929790" "23929790" "subst" "4.06213E-6" "01567" "SACS_000035" "g.23929790G>A" "" "{PMID:Prodi 2013:22816526}" "" "961C>T" "no domain" "De novo" "" "" "0" "" "" "g.23355651G>A" "" "pathogenic" "" "0000238238" "2" "95" "13" "23908345" "23908345" "subst" "4.07352E-6" "01567" "SACS_000140" "g.23908345G>A" "" "{PMID:Gazulla 2011:21665375}" "" "9670C>T" "" "Unknown" "?" "" "0" "" "" "g.23334206G>A" "" "pathogenic" "" "0000238239" "2" "95" "13" "23908345" "23908345" "subst" "4.07352E-6" "01567" "SACS_000140" "g.23908345G>A" "" "{PMID:Gazulla 2011:21665375}" "" "9670C>T" "" "Unknown" "?" "" "0" "" "" "g.23334206G>A" "" "pathogenic" "" "0000238240" "0" "95" "13" "23908273" "23908273" "subst" "4.0699E-6" "01567" "SACS_000004" "g.23908273A>G" "" "{PMID:Ogawa 2004:14718708}" "" "7492T>C, g.77106T>C" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23334134A>G" "" "pathogenic" "" "0000238241" "3" "95" "13" "23908273" "23908273" "subst" "4.0699E-6" "01567" "SACS_000004" "g.23908273A>G" "" "{PMID:Shimazaki 2013:22268491}" "" "7492T>C, g.77106T>C" "in ARM-rpt" "Germline" "" "" "0" "" "" "g.23334134A>G" "" "pathogenic" "" "0000238242" "11" "79" "13" "23908210" "23908210" "subst" "4.07206E-6" "01567" "SACS_000195" "g.23908210C>T" "" "{PMID: Blumkin 2015:25819952}" "" "9805G>A (D3269N)" "" "Germline" "yes" "" "0" "" "" "g.23334071C>T" "" "likely pathogenic" "" "0000244172" "3" "90" "13" "23913549" "23913549" "subst" "0.00943201" "00006" "SACS_000204" "g.23913549T>C" "" "{PMID:Karaca 2015:26539891}" "" "NM_014363: c.A4466G; p.N1489S" "" "Germline" "" "" "0" "" "" "g.23339410T>C" "" "pathogenic" "" "0000244173" "3" "90" "13" "23927927" "23927927" "subst" "1.62851E-5" "00006" "SACS_000106" "g.23927927G>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_014363: c.C2182T; p.R728X" "" "Germline" "" "" "0" "" "" "g.23353788G>A" "" "pathogenic" "" "0000247194" "0" "10" "13" "23898664" "23898664" "subst" "0.886479" "02330" "SGCG_000136" "g.23898664A>G" "" "" "" "SGCG(NM_000231.3):c.860A>G (p.N287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23324525A>G" "" "benign" "" "0000247998" "0" "10" "13" "23930055" "23930055" "subst" "0.112219" "02325" "SACS_000258" "g.23930055A>T" "" "" "" "SACS(NM_014363.5):c.696T>A (p.N232K), SACS(NM_014363.6):c.696T>A (p.N232K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23355916A>T" "" "benign" "" "0000248409" "0" "10" "13" "23898664" "23898664" "subst" "0.886479" "02325" "SGCG_000136" "g.23898664A>G" "" "" "" "SGCG(NM_000231.3):c.860A>G (p.N287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23324525A>G" "" "benign" "" "0000249394" "0" "30" "13" "23905202" "23905202" "subst" "0.000491738" "02325" "SACS_000296" "g.23905202A>C" "" "" "" "SACS(NM_014363.6):c.12813T>G (p.P4271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23331063A>C" "" "likely benign" "" "0000251861" "0" "30" "13" "23914263" "23914263" "subst" "0.000554333" "02326" "SACS_000243" "g.23914263A>G" "" "" "" "SACS(NM_014363.6):c.3752T>C (p.I1251T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23340124A>G" "" "likely benign" "" "0000252751" "0" "50" "13" "23910089" "23910089" "subst" "0" "02326" "SACS_000222" "g.23910089A>T" "" "" "" "SACS(NM_014363.6):c.7926T>A (p.N2642K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23335950A>T" "" "VUS" "" "0000253259" "0" "10" "13" "23930055" "23930055" "subst" "0.112219" "01943" "SACS_000258" "g.23930055A>T" "" "" "" "SACS(NM_014363.5):c.696T>A (p.N232K), SACS(NM_014363.6):c.696T>A (p.N232K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23355916A>T" "" "benign" "" "0000253469" "0" "10" "13" "23905711" "23905711" "subst" "0.286901" "01943" "SACS_000209" "g.23905711A>G" "" "" "" "SACS(NM_014363.5):c.12304T>C (p.L4102=), SACS(NM_014363.6):c.12304T>C (p.L4102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23331572A>G" "" "benign" "" "0000253470" "0" "10" "13" "23908034" "23908034" "subst" "0.411617" "01943" "SACS_000215" "g.23908034A>G" "" "" "" "SACS(NM_014363.5):c.9981T>C (p.A3327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333895A>G" "" "benign" "" "0000253471" "0" "10" "13" "23909162" "23909162" "subst" "0.287047" "01943" "SACS_000217" "g.23909162A>G" "" "" "" "SACS(NM_014363.5):c.8853T>C (p.V2951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23335023A>G" "" "benign" "" "0000253472" "0" "10" "13" "23911820" "23911820" "subst" "0.287727" "01943" "SACS_000230" "g.23911820A>G" "" "" "" "SACS(NM_014363.5):c.6195T>C (p.I2065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337681A>G" "" "benign" "" "0000253715" "0" "10" "13" "23907909" "23907909" "subst" "0.286729" "01943" "SACS_000214" "g.23907909A>G" "" "" "" "SACS(NM_014363.5):c.10106T>C (p.V3369A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333770A>G" "" "benign" "" "0000254246" "0" "30" "13" "23907710" "23907710" "subst" "0.00241934" "01943" "SACS_000272" "g.23907710A>G" "" "" "" "SACS(NM_014363.5):c.10305T>C (p.S3435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333571A>G" "" "likely benign" "" "0000254247" "0" "30" "13" "23912708" "23912708" "subst" "0.000662817" "01943" "SACS_000235" "g.23912708A>G" "" "" "" "SACS(NM_014363.5):c.5307T>C (p.H1769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23338569A>G" "" "likely benign" "" "0000254649" "0" "30" "13" "23914378" "23914378" "subst" "0.000454075" "01943" "SACS_000244" "g.23914378A>G" "" "" "" "SACS(NM_014363.5):c.3637T>C (p.L1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23340239A>G" "" "likely benign" "" "0000254715" "0" "30" "13" "23913939" "23913939" "subst" "0.00193896" "01943" "SACS_000182" "g.23913939A>G" "" "" "" "SACS(NM_014363.5):c.4076T>C (p.M1359T), SACS(NM_014363.6):c.4076T>C (p.M1359T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23339800A>G" "" "likely benign" "" "0000295794" "0" "30" "13" "23898690" "23898690" "subst" "0.00195964" "02330" "SGCG_000135" "g.23898690G>A" "" "" "" "SGCG(NM_000231.3):c.*10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23324551G>A" "" "likely benign" "" "0000295795" "0" "10" "13" "23898693" "23898693" "subst" "0.0409518" "02330" "SGCG_000038" "g.23898693C>T" "" "" "" "SGCG(NM_000231.3):c.*13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23324554C>T" "" "benign" "" "0000295801" "0" "10" "13" "23898509" "23898509" "subst" "0.68658" "02330" "SGCG_000036" "g.23898509T>C" "" "" "" "SGCG(NM_000231.3):c.705T>C (p.L235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23324370T>C" "" "benign" "" "0000297881" "0" "10" "13" "23907677" "23907677" "subst" "0.996602" "02325" "SACS_000213" "g.23907677C>T" "" "" "" "SACS(NM_014363.5):c.10338G>A (p.Q3446=), SACS(NM_014363.6):c.10338G>A (p.Q3446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333538C>T" "" "benign" "" "0000297882" "0" "50" "13" "23929378" "23929378" "subst" "0.00264812" "02325" "SACS_000152" "g.23929378G>A" "" "" "" "SACS(NM_014363.5):c.1373C>T (p.T458I), SACS(NM_014363.6):c.1373C>T (p.T458I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23355239G>A" "" "VUS" "" "0000297883" "0" "10" "13" "23929095" "23929095" "subst" "0.112295" "02325" "SACS_000253" "g.23929095T>C" "" "" "" "SACS(NM_014363.5):c.1656A>G (p.L552=), SACS(NM_014363.6):c.1656A>G (p.L552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23354956T>C" "" "benign" "" "0000297884" "0" "50" "13" "23915230" "23915230" "subst" "1.22084E-5" "02325" "SACS_000248" "g.23915230G>A" "" "" "" "SACS(NM_014363.6):c.2785C>T (p.R929C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23341091G>A" "" "VUS" "" "0000297885" "0" "30" "13" "23915086" "23915086" "subst" "0.000154376" "02325" "SACS_000247" "g.23915086G>A" "" "" "" "SACS(NM_014363.6):c.2929C>T (p.L977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23340947G>A" "" "likely benign" "" "0000297886" "0" "30" "13" "23914886" "23914886" "subst" "0.00304986" "02325" "SACS_000246" "g.23914886T>C" "" "" "" "SACS(NM_014363.5):c.3129A>G (p.S1043=), SACS(NM_014363.6):c.3129A>G (p.S1043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23340747T>C" "" "likely benign" "" "0000297887" "0" "90" "13" "23913256" "23913260" "del" "0" "02325" "SACS_000238" "g.23913256_23913260del" "" "" "" "SACS(NM_014363.6):c.4756_4760delAATCA (p.N1586Yfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23339117_23339121del" "" "pathogenic" "" "0000297888" "0" "90" "13" "23912013" "23912017" "del" "0" "02325" "SACS_000232" "g.23912013_23912017del" "" "" "" "SACS(NM_014363.6):c.6000_6004delAAGAA (p.R2002Cfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337874_23337878del" "" "pathogenic" "" "0000299329" "0" "90" "13" "23905855" "23905855" "subst" "1.63119E-5" "02329" "SACS_000030" "g.23905855G>A" "" "" "" "SACS(NM_014363.6):c.12160C>T (p.Q4054*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23331716G>A" "" "pathogenic" "" "0000301632" "0" "50" "13" "23928989" "23928989" "subst" "4.06128E-6" "02326" "SACS_000252" "g.23928989T>C" "" "" "" "SACS(NM_014363.6):c.1762A>G (p.K588E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23354850T>C" "" "VUS" "" "0000301633" "0" "10" "13" "23928671" "23928671" "subst" "0.0241001" "02326" "SACS_000251" "g.23928671C>T" "" "" "" "SACS(NM_014363.5):c.2080G>A (p.A694T), SACS(NM_014363.6):c.2080G>A (p.A694T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23354532C>T" "" "benign" "" "0000301634" "0" "30" "13" "23911234" "23911234" "subst" "0.00489223" "02326" "SACS_000189" "g.23911234G>T" "" "" "" "SACS(NM_014363.5):c.6781C>A (p.L2261I, p.(Leu2261Ile)), SACS(NM_014363.6):c.6781C>A (p.L2261I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337095G>T" "" "likely benign" "" "0000307596" "0" "10" "13" "23985391" "23985391" "subst" "0.32719" "01943" "SACS_000264" "g.23985391T>C" "" "" "" "SACS(NM_014363.5):c.-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23411252T>C" "" "benign" "" "0000307597" "0" "10" "13" "23907677" "23907677" "subst" "0.996602" "01943" "SACS_000213" "g.23907677C>T" "" "" "" "SACS(NM_014363.5):c.10338G>A (p.Q3446=), SACS(NM_014363.6):c.10338G>A (p.Q3446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333538C>T" "" "benign" "" "0000307598" "0" "30" "13" "23907572" "23907572" "subst" "0.000403691" "01943" "SACS_000212" "g.23907572G>C" "" "" "" "SACS(NM_014363.5):c.10443C>G (p.L3481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333433G>C" "" "likely benign" "" "0000307599" "0" "10" "13" "23907119" "23907119" "subst" "0.00147034" "01943" "SACS_000211" "g.23907119T>C" "" "" "" "SACS(NM_001278055.1):c.10455A>G (p.(Ile3485Met)), SACS(NM_014363.5):c.10896A>G (p.I3632M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23332980T>C" "" "benign" "" "0000307600" "0" "10" "13" "23905366" "23905366" "subst" "0.00194591" "01943" "SACS_000208" "g.23905366T>C" "" "" "" "SACS(NM_014363.5):c.12649A>G (p.N4217D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23331227T>C" "" "benign" "" "0000307601" "0" "30" "13" "23929478" "23929478" "subst" "5.68777E-5" "01943" "SACS_000255" "g.23929478G>T" "" "" "" "SACS(NM_014363.5):c.1273C>A (p.P425T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23355339G>T" "" "likely benign" "" "0000307602" "0" "10" "13" "23905253" "23905253" "subst" "0.0023854" "01943" "SACS_000207" "g.23905253G>A" "" "" "" "SACS(NM_014363.5):c.12762C>T (p.S4254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23331114G>A" "" "benign" "" "0000307603" "0" "50" "13" "23905026" "23905026" "del" "0" "01943" "SACS_000206" "g.23905026del" "" "" "" "SACS(NM_014363.5):c.12990delG (p.R4330Sfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23330887del" "" "VUS" "" "0000307604" "0" "50" "13" "23904298" "23904298" "subst" "0.0031823" "01943" "SACS_000205" "g.23904298T>G" "" "" "" "SACS(NM_001278055.1):c.13276A>C (p.(Asn4426His)), SACS(NM_014363.5):c.13717A>C (p.N4573H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23330159T>G" "" "VUS" "" "0000307605" "0" "50" "13" "23929378" "23929378" "subst" "0.00264812" "01943" "SACS_000152" "g.23929378G>A" "" "" "" "SACS(NM_014363.5):c.1373C>T (p.T458I), SACS(NM_014363.6):c.1373C>T (p.T458I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23355239G>A" "" "VUS" "" "0000307606" "0" "30" "13" "23929158" "23929158" "subst" "0.0012277" "01943" "SACS_000254" "g.23929158G>A" "" "" "" "SACS(NM_014363.5):c.1593C>T (p.I531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23355019G>A" "" "likely benign" "" "0000307607" "0" "10" "13" "23929095" "23929095" "subst" "0.112295" "01943" "SACS_000253" "g.23929095T>C" "" "" "" "SACS(NM_014363.5):c.1656A>G (p.L552=), SACS(NM_014363.6):c.1656A>G (p.L552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23354956T>C" "" "benign" "" "0000307608" "0" "30" "13" "23949245" "23949245" "subst" "0.0035186" "01943" "SACS_000261" "g.23949245G>A" "" "" "" "SACS(NM_014363.5):c.171+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23375106G>A" "" "likely benign" "" "0000307609" "0" "10" "13" "23949252" "23949252" "subst" "0.161363" "01943" "SACS_000262" "g.23949252G>A" "" "" "" "SACS(NM_014363.5):c.171+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23375113G>A" "" "benign" "" "0000307610" "0" "10" "13" "23928671" "23928671" "subst" "0.0241001" "01943" "SACS_000251" "g.23928671C>T" "" "" "" "SACS(NM_014363.5):c.2080G>A (p.A694T), SACS(NM_014363.6):c.2080G>A (p.A694T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23354532C>T" "" "benign" "" "0000307611" "0" "30" "13" "23949423" "23949423" "subst" "2.49557E-5" "01943" "SACS_000263" "g.23949423G>A" "" "" "" "SACS(NM_014363.5):c.21-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23375284G>A" "" "likely benign" "" "0000307612" "0" "50" "13" "23915781" "23915781" "subst" "0.000179422" "01943" "SACS_000250" "g.23915781C>T" "" "" "" "SACS(NM_014363.5):c.2234G>A (p.R745H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23341642C>T" "" "VUS" "" "0000307613" "0" "30" "13" "23915435" "23915435" "subst" "0.00030933" "01943" "SACS_000249" "g.23915435T>C" "" "" "" "SACS(NM_014363.5):c.2580A>G (p.Q860=), SACS(NM_014363.6):c.2580A>G (p.Q860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23341296T>C" "" "likely benign" "" "0000307614" "0" "30" "13" "23914886" "23914886" "subst" "0.00304986" "01943" "SACS_000246" "g.23914886T>C" "" "" "" "SACS(NM_014363.5):c.3129A>G (p.S1043=), SACS(NM_014363.6):c.3129A>G (p.S1043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23340747T>C" "" "likely benign" "" "0000307615" "0" "30" "13" "23914464" "23914464" "subst" "6.1067E-5" "01943" "SACS_000245" "g.23914464G>C" "" "" "" "SACS(NM_014363.5):c.3551C>G (p.P1184R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23340325G>C" "" "likely benign" "" "0000307616" "0" "30" "13" "23914098" "23914098" "subst" "4.07163E-5" "01943" "SACS_000242" "g.23914098T>C" "" "" "" "SACS(NM_014363.5):c.3917A>G (p.N1306S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23339959T>C" "" "likely benign" "" "0000307617" "0" "10" "13" "23913827" "23913827" "subst" "0.0311659" "01943" "SACS_000241" "g.23913827G>A" "" "" "" "SACS(NM_014363.5):c.4188C>T (p.H1396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23339688G>A" "" "benign" "" "0000307618" "0" "70" "13" "23939341" "23939342" "del" "0" "01943" "SACS_000260" "g.23939341_23939342del" "" "" "" "SACS(NM_014363.5):c.423_424delGA (p.E141Dfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23365202_23365203del" "" "likely pathogenic" "" "0000307619" "0" "50" "13" "23939330" "23939330" "subst" "8.55857E-5" "01943" "SACS_000259" "g.23939330C>A" "" "" "" "SACS(NM_014363.5):c.432G>T (p.W144C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23365191C>A" "" "VUS" "" "0000307620" "0" "30" "13" "23913549" "23913549" "subst" "0.00943201" "01943" "SACS_000204" "g.23913549T>C" "" "" "" "SACS(NM_014363.5):c.4466A>G (p.N1489S), SACS(NM_014363.6):c.4466A>G (p.N1489S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23339410T>C" "" "likely benign" "" "0000307621" "0" "50" "13" "23913258" "23913258" "subst" "0.000159652" "01943" "SACS_000239" "g.23913258T>C" "" "" "" "SACS(NM_014363.5):c.4757A>G (p.N1586S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23339119T>C" "" "VUS" "" "0000307622" "0" "30" "13" "23913030" "23913030" "subst" "0.000265506" "01943" "SACS_000236" "g.23913030G>A" "" "" "" "SACS(NM_014363.5):c.4985C>T (p.T1662M), SACS(NM_014363.6):c.4985C>T (p.T1662M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23338891G>A" "" "likely benign" "" "0000307623" "0" "50" "13" "23912151" "23912151" "subst" "2.44266E-5" "01943" "SACS_000234" "g.23912151T>C" "" "" "" "SACS(NM_014363.5):c.5864A>G (p.D1955G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23338012T>C" "" "VUS" "" "0000307624" "0" "50" "13" "23912076" "23912076" "subst" "4.06918E-6" "01943" "SACS_000233" "g.23912076G>A" "" "" "" "SACS(NM_014363.5):c.5939C>T (p.S1980F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337937G>A" "" "VUS" "" "0000307625" "0" "50" "13" "23911953" "23911953" "subst" "0" "01943" "SACS_000231" "g.23911953G>A" "" "" "" "SACS(NM_014363.5):c.6062C>T (p.S2021F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337814G>A" "" "VUS" "" "0000307626" "0" "10" "13" "23911748" "23911748" "subst" "0.0314469" "01943" "SACS_000229" "g.23911748C>T" "" "" "" "SACS(NM_014363.5):c.6267G>A (p.S2089=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337609C>T" "" "benign" "" "0000307627" "0" "50" "13" "23911438" "23911438" "subst" "8.14319E-6" "01943" "SACS_000228" "g.23911438C>T" "" "" "" "SACS(NM_014363.5):c.6577G>A (p.D2193N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337299C>T" "" "VUS" "" "0000307628" "0" "10" "13" "23911234" "23911234" "subst" "0.00489223" "01943" "SACS_000189" "g.23911234G>T" "" "" "" "SACS(NM_014363.5):c.6781C>A (p.L2261I, p.(Leu2261Ile)), SACS(NM_014363.6):c.6781C>A (p.L2261I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337095G>T" "" "benign" "" "0000307629" "0" "50" "13" "23911063" "23911063" "subst" "0.000207536" "01943" "SACS_000227" "g.23911063C>T" "" "" "" "SACS(NM_014363.5):c.6952G>A (p.A2318T), SACS(NM_014363.6):c.6952G>A (p.(Ala2318Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23336924C>T" "" "VUS" "" "0000307630" "0" "30" "13" "23910866" "23910866" "subst" "0.00747763" "01943" "SACS_000226" "g.23910866G>A" "" "" "" "SACS(NM_014363.5):c.7149C>T (p.R2383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23336727G>A" "" "likely benign" "" "0000307631" "0" "50" "13" "23910733" "23910733" "subst" "4.07448E-6" "01943" "SACS_000225" "g.23910733T>C" "" "" "" "SACS(NM_014363.5):c.7282A>G (p.I2428V), SACS(NM_014363.6):c.7282A>G (p.I2428V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23336594T>C" "" "VUS" "" "0000307632" "0" "50" "13" "23910591" "23910591" "subst" "4.06613E-6" "01943" "SACS_000224" "g.23910591T>C" "" "" "" "SACS(NM_014363.5):c.7424A>G (p.K2475R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23336452T>C" "" "VUS" "" "0000307633" "0" "30" "13" "23930007" "23930007" "subst" "4.06309E-6" "01943" "SACS_000257" "g.23930007T>G" "" "" "" "SACS(NM_014363.5):c.744A>C (p.A248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23355868T>G" "" "likely benign" "" "0000307634" "0" "30" "13" "23910290" "23910290" "subst" "0.000341711" "01943" "SACS_000223" "g.23910290T>A" "" "" "" "SACS(NM_014363.5):c.7725A>T (p.I2575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23336151T>A" "" "likely benign" "" "0000307635" "0" "30" "13" "23909888" "23909888" "subst" "0.00152141" "01943" "SACS_000221" "g.23909888T>G" "" "" "" "SACS(NM_001278055.1):c.7686A>C (p.(Lys2562Asn)), SACS(NM_014363.5):c.8127A>C (p.K2709N), SACS(NM_014363.6):c.8127A>C (p.K2709N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23335749T>G" "" "likely benign" "" "0000307636" "0" "10" "13" "23909671" "23909671" "subst" "0.00188877" "01943" "SACS_000220" "g.23909671C>T" "" "" "" "SACS(NM_014363.5):c.8344G>A (p.A2782T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23335532C>T" "" "benign" "" "0000307637" "0" "10" "13" "23909670" "23909670" "subst" "0.00188928" "01943" "SACS_000219" "g.23909670G>A" "" "" "" "SACS(NM_014363.5):c.8345C>T (p.A2782V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23335531G>A" "" "benign" "" "0000307638" "0" "50" "13" "23909422" "23909422" "subst" "0" "01943" "SACS_000218" "g.23909422G>A" "" "" "" "SACS(NM_014363.5):c.8593C>T (p.H2865Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23335283G>A" "" "VUS" "" "0000307639" "0" "10" "13" "23929842" "23929842" "subst" "0.036716" "01943" "SACS_000256" "g.23929842T>C" "" "" "" "SACS(NM_014363.5):c.909A>G (p.A303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23355703T>C" "" "benign" "" "0000307640" "0" "30" "13" "23908169" "23908169" "subst" "0.00297595" "01943" "SACS_000216" "g.23908169T>C" "" "" "" "SACS(NM_014363.5):c.9846A>G (p.P3282=), SACS(NM_014363.6):c.9846A>G (p.P3282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23334030T>C" "" "likely benign" "" "0000337583" "0" "90" "13" "23939304" "23939304" "subst" "0" "02327" "SACS_000294" "g.23939304C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23365165C>T" "" "pathogenic" "" "0000337584" "0" "10" "13" "23949252" "23949252" "subst" "0.161363" "02327" "SACS_000262" "g.23949252G>A" "" "" "" "SACS(NM_014363.5):c.171+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23375113G>A" "" "benign" "" "0000337586" "0" "10" "13" "23985391" "23985391" "subst" "0.32719" "02327" "SACS_000264" "g.23985391T>C" "" "" "" "SACS(NM_014363.5):c.-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23411252T>C" "" "benign" "" "0000339740" "0" "10" "13" "23905253" "23905253" "subst" "0.0023854" "02327" "SACS_000207" "g.23905253G>A" "" "" "" "SACS(NM_014363.5):c.12762C>T (p.S4254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23331114G>A" "" "benign" "" "0000339741" "0" "10" "13" "23907710" "23907710" "subst" "0.00241934" "02327" "SACS_000272" "g.23907710A>G" "" "" "" "SACS(NM_014363.5):c.10305T>C (p.S3435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333571A>G" "" "benign" "" "0000339742" "0" "30" "13" "23911946" "23911946" "subst" "0.00166392" "02327" "SACS_000283" "g.23911946G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337807G>A" "" "likely benign" "" "0000339743" "0" "30" "13" "23912513" "23912513" "subst" "0.00167066" "02327" "SACS_000285" "g.23912513C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23338374C>G" "" "likely benign" "" "0000340640" "0" "10" "13" "23929842" "23929842" "subst" "0.036716" "02327" "SACS_000256" "g.23929842T>C" "" "" "" "SACS(NM_014363.5):c.909A>G (p.A303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23355703T>C" "" "benign" "" "0000340642" "0" "10" "13" "23908034" "23908034" "subst" "0.411617" "02327" "SACS_000215" "g.23908034A>G" "" "" "" "SACS(NM_014363.5):c.9981T>C (p.A3327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333895A>G" "" "benign" "" "0000340747" "0" "10" "13" "23907677" "23907677" "subst" "0.996602" "02327" "SACS_000213" "g.23907677C>T" "" "" "" "SACS(NM_014363.5):c.10338G>A (p.Q3446=), SACS(NM_014363.6):c.10338G>A (p.Q3446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333538C>T" "" "benign" "" "0000340752" "0" "10" "13" "23928912" "23928912" "subst" "0.00699702" "02327" "SACS_000292" "g.23928912C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23354773C>T" "" "benign" "" "0000340801" "0" "10" "13" "23913827" "23913827" "subst" "0.0311659" "02327" "SACS_000241" "g.23913827G>A" "" "" "" "SACS(NM_014363.5):c.4188C>T (p.H1396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23339688G>A" "" "benign" "" "0000340822" "0" "10" "13" "23911820" "23911820" "subst" "0.287727" "02327" "SACS_000230" "g.23911820A>G" "" "" "" "SACS(NM_014363.5):c.6195T>C (p.I2065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337681A>G" "" "benign" "" "0000340861" "0" "10" "13" "23929095" "23929095" "subst" "0.112295" "02327" "SACS_000253" "g.23929095T>C" "" "" "" "SACS(NM_014363.5):c.1656A>G (p.L552=), SACS(NM_014363.6):c.1656A>G (p.L552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23354956T>C" "" "benign" "" "0000340954" "0" "10" "13" "23911748" "23911748" "subst" "0.0314469" "02327" "SACS_000229" "g.23911748C>T" "" "" "" "SACS(NM_014363.5):c.6267G>A (p.S2089=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23337609C>T" "" "benign" "" "0000341054" "0" "10" "13" "23909162" "23909162" "subst" "0.287047" "02327" "SACS_000217" "g.23909162A>G" "" "" "" "SACS(NM_014363.5):c.8853T>C (p.V2951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23335023A>G" "" "benign" "" "0000341559" "0" "10" "13" "23928671" "23928671" "subst" "0.0241001" "02327" "SACS_000251" "g.23928671C>T" "" "" "" "SACS(NM_014363.5):c.2080G>A (p.A694T), SACS(NM_014363.6):c.2080G>A (p.A694T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23354532C>T" "" "benign" "" "0000342548" "0" "50" "13" "23909298" "23909298" "subst" "0" "02327" "SACS_000278" "g.23909298C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23335159C>T" "" "VUS" "" "0000342786" "0" "50" "13" "23906391" "23906391" "subst" "0" "02327" "SACS_000161" "g.23906391C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23332252C>T" "" "VUS" "" "0000342898" "0" "90" "13" "23904883" "23904883" "subst" "4.06312E-6" "02327" "SACS_000066" "g.23904883G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23330744G>A" "" "pathogenic" "" "0000343312" "0" "90" "13" "23927927" "23927927" "subst" "1.62851E-5" "02327" "SACS_000106" "g.23927927G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23353788G>A" "" "pathogenic" "" "0000343660" "0" "10" "13" "23930055" "23930055" "subst" "0.112219" "02327" "SACS_000258" "g.23930055A>T" "" "" "" "SACS(NM_014363.5):c.696T>A (p.N232K), SACS(NM_014363.6):c.696T>A (p.N232K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23355916A>T" "" "benign" "" "0000344533" "0" "90" "13" "23914114" "23914114" "subst" "0" "02327" "SACS_000289" "g.23914114G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23339975G>A" "" "pathogenic" "" "0000344599" "0" "90" "13" "23912890" "23912890" "subst" "4.11756E-6" "02327" "SACS_000034" "g.23912890G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23338751G>A" "" "pathogenic" "" "0000344823" "0" "90" "13" "23905987" "23905987" "subst" "0" "02327" "SACS_000268" "g.23905987G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23331848G>A" "" "pathogenic" "" "0000345170" "0" "90" "13" "23913058" "23913058" "subst" "0" "02327" "SACS_000108" "g.23913058C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23338919C>A" "" "pathogenic" "" "0000346068" "0" "50" "13" "23905327" "23905327" "subst" "8.13948E-6" "02327" "SACS_000266" "g.23905327C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23331188C>T" "" "VUS" "" "0000346576" "0" "90" "13" "23913833" "23913833" "del" "0" "02327" "SACS_000287" "g.23913833del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23339694del" "" "pathogenic" "" "0000346703" "0" "10" "13" "23907119" "23907119" "subst" "0.00147034" "02327" "SACS_000211" "g.23907119T>C" "" "" "" "SACS(NM_001278055.1):c.10455A>G (p.(Ile3485Met)), SACS(NM_014363.5):c.10896A>G (p.I3632M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23332980T>C" "" "benign" "" "0000346834" "0" "50" "13" "23915019" "23915019" "subst" "9.37903E-5" "02327" "SACS_000291" "g.23915019A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23340880A>G" "" "VUS" "" "0000346866" "0" "10" "13" "23914378" "23914378" "subst" "0.000454075" "02327" "SACS_000244" "g.23914378A>G" "" "" "" "SACS(NM_014363.5):c.3637T>C (p.L1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23340239A>G" "" "benign" "" "0000346892" "0" "90" "13" "23913783" "23913783" "subst" "0" "02327" "SACS_000286" "g.23913783A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23339644A>C" "" "pathogenic" "" "0000347161" "0" "50" "13" "23905354" "23905354" "subst" "8.14505E-6" "02327" "SACS_000267" "g.23905354G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23331215G>C" "" "VUS" "" "0000348974" "0" "90" "13" "23906340" "23906340" "subst" "0" "02327" "SACS_000269" "g.23906340G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23332201G>C" "" "pathogenic" "" "0000349674" "0" "50" "13" "23914549" "23914549" "subst" "0" "02327" "SACS_000290" "g.23914549A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23340410A>G" "" "VUS" "" "0000350098" "0" "90" "13" "23904839" "23904839" "subst" "0" "02327" "SACS_000265" "g.23904839G>C" "" "" "" "SACS(NM_014363.6):c.13176C>G (p.Y4392*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23330700G>C" "" "pathogenic" "" "0000350489" "0" "10" "13" "23907909" "23907909" "subst" "0.286729" "02327" "SACS_000214" "g.23907909A>G" "" "" "" "SACS(NM_014363.5):c.10106T>C (p.V3369A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333770A>G" "" "benign" "" "0000351063" "0" "10" "13" "23907572" "23907572" "subst" "0.000403691" "02327" "SACS_000212" "g.23907572G>C" "" "" "" "SACS(NM_014363.5):c.10443C>G (p.L3481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23333433G>C" "" "benign" "" "0000351064" "0" "50" "13" "23909037" "23909037" "subst" "0" "02327" "SACS_000276" "g.23909037A>G" "" "" "" "(p.Leu2993Ser)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23334898A>G" "" "VUS" "" "0000351065" "0" "90" "13" "23949257" "23949257" "subst" "0" "02327" "SACS_000295" "g.23949257C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23375118C>T" "" "pathogenic" "" "0000356923" "0" "90" "13" "23911725" "23911725" "del" "0" "01807" "SACS_000097" "g.23911725del" "" "" "" "6290delG" "" "Unknown" "" "" "0" "" "" "g.23337586del" "" "pathogenic" "" "0000356924" "0" "90" "13" "23905473" "23905473" "subst" "0" "01807" "SACS_000272" "g.23905473T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.23331334T>C" "" "pathogenic" "" "0000357988" "3" "50" "13" "23912221" "23912221" "subst" "2.43994E-5" "00006" "SACS_000297" "g.23912221C>T" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.23338082C>T" "" "VUS" "" "0000456094" "3" "90" "13" "23913104" "23913104" "subst" "0" "01807" "SACS_000298" "g.23913104G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.23338965G>T" "" "pathogenic" "" "0000549972" "0" "10" "13" "23898489" "23898489" "subst" "0.0140223" "02330" "SGCG_000063" "g.23898489T>C" "" "" "" "SGCG(NM_000231.2):c.703-18T>C (p.(=)), SGCG(NM_000231.3):c.703-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23324350T>C" "" "benign" "" "0000549973" "0" "50" "13" "23904304" "23904304" "subst" "0" "01943" "SGCG_000178" "g.23904304G>A" "" "" "" "SACS(NM_014363.5):c.13711C>T (p.L4571F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23330165G>A" "" "VUS" "" "0000549974" "0" "30" "13" "23904641" "23904641" "subst" "0.000369669" "01943" "SACS_000299" "g.23904641G>A" "" "" "" "SACS(NM_014363.5):c.13374C>T (p.F4458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23330502G>A" "" "likely benign" "" "0000549975" "0" "90" "13" "23904839" "23904839" "subst" "0" "02325" "SACS_000265" "g.23904839G>C" "" "" "" "SACS(NM_014363.6):c.13176C>G (p.Y4392*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23330700G>C" "" "pathogenic" "" "0000549976" "0" "90" "13" "23904917" "23904917" "del" "0" "02325" "SACS_000300" "g.23904917del" "" "" "" "SACS(NM_014363.6):c.13101delT (p.L4368*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23330778del" "" "pathogenic" "" "0000549977" "0" "50" "13" "23904988" "23904988" "subst" "6.12585E-5" "02325" "SACS_000076" "g.23904988C>T" "" "" "" "SACS(NM_014363.6):c.13027G>A (p.E4343K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23330849C>T" "" "VUS" "" "0000549978" "0" "30" "13" "23905202" "23905202" "subst" "0.000491738" "02327" "SACS_000296" "g.23905202A>C" "" "" "" "SACS(NM_014363.6):c.12813T>G (p.P4271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23331063A>C" "" "likely benign" "" "0000549979" "0" "10" "13" "23905418" "23905418" "subst" "0.000975634" "01943" "SACS_000301" "g.23905418T>C" "" "" "" "SACS(NM_014363.5):c.12597A>G (p.P4199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23331279T>C" "" "benign" "" "0000549980" "0" "90" "13" "23905855" "23905855" "subst" "1.63119E-5" "02325" "SACS_000030" "g.23905855G>A" "" "" "" "SACS(NM_014363.6):c.12160C>T (p.Q4054*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23331716G>A" "" "pathogenic" "" "0000549981" "0" "10" "13" "23906327" "23906327" "subst" "0.000972517" "01943" "SACS_000302" "g.23906327C>T" "" "" "" "SACS(NM_014363.5):c.11688G>A (p.R3896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332188C>T" "" "benign" "" "0000549982" "0" "50" "13" "23906652" "23906652" "subst" "5.28472E-5" "02325" "SACS_000303" "g.23906652C>T" "" "" "" "SACS(NM_014363.6):c.11363G>A (p.R3788H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332513C>T" "" "VUS" "" "0000549983" "0" "50" "13" "23906719" "23906719" "subst" "1.22081E-5" "01943" "SACS_000304" "g.23906719C>T" "" "" "" "SACS(NM_014363.5):c.11296G>A (p.V3766I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332580C>T" "" "VUS" "" "0000549984" "0" "50" "13" "23906805" "23906805" "subst" "0" "01943" "SACS_000305" "g.23906805A>C" "" "" "" "SACS(NM_014363.5):c.11210T>G (p.L3737R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332666A>C" "" "VUS" "" "0000549985" "0" "50" "13" "23906896" "23906898" "del" "0" "02327" "SACS_000306" "g.23906896_23906898del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332757_23332759del" "" "VUS" "" "0000549986" "0" "10" "13" "23906983" "23906983" "subst" "0.0406036" "01943" "SACS_000307" "g.23906983G>C" "" "" "" "SACS(NM_001278055.1):c.10591C>G (p.(Pro3531Ala)), SACS(NM_014363.5):c.11032C>G (p.P3678A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332844G>C" "" "benign" "" "0000549987" "0" "30" "13" "23906983" "23906983" "subst" "0.0406036" "01804" "SACS_000307" "g.23906983G>C" "" "" "" "SACS(NM_001278055.1):c.10591C>G (p.(Pro3531Ala)), SACS(NM_014363.5):c.11032C>G (p.P3678A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332844G>C" "" "likely benign" "" "0000549988" "0" "50" "13" "23907043" "23907043" "subst" "0.000199731" "02325" "SACS_000308" "g.23907043G>A" "" "" "" "SACS(NM_014363.6):c.10972C>T (p.R3658W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332904G>A" "" "VUS" "" "0000549989" "0" "30" "13" "23907119" "23907119" "subst" "0.00147034" "01804" "SACS_000211" "g.23907119T>C" "" "" "" "SACS(NM_001278055.1):c.10455A>G (p.(Ile3485Met)), SACS(NM_014363.5):c.10896A>G (p.I3632M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332980T>C" "" "likely benign" "" "0000549990" "0" "10" "13" "23907194" "23907194" "subst" "0.000963885" "01943" "SACS_000309" "g.23907194G>T" "" "" "" "SACS(NM_014363.5):c.10821C>A (p.I3607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23333055G>T" "" "benign" "" "0000549991" "0" "30" "13" "23907347" "23907347" "subst" "0.000139717" "01943" "SACS_000310" "g.23907347C>T" "" "" "" "SACS(NM_014363.5):c.10668G>A (p.L3556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23333208C>T" "" "likely benign" "" "0000549992" "0" "30" "13" "23907404" "23907404" "subst" "0.000825883" "01943" "SACS_000311" "g.23907404T>C" "" "" "" "SACS(NM_014363.5):c.10611A>G (p.A3537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23333265T>C" "" "likely benign" "" "0000549993" "0" "50" "13" "23907834" "23907834" "subst" "9.35575E-5" "01943" "SACS_000312" "g.23907834T>C" "" "" "" "SACS(NM_014363.5):c.10181A>G (p.N3394S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23333695T>C" "" "VUS" "" "0000549994" "0" "50" "13" "23908013" "23908013" "subst" "0" "01943" "SACS_000313" "g.23908013C>G" "" "" "" "SACS(NM_014363.5):c.10002G>C (p.L3334F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23333874C>G" "" "VUS" "" "0000549995" "0" "30" "13" "23908169" "23908169" "subst" "0.00297595" "02326" "SACS_000216" "g.23908169T>C" "" "" "" "SACS(NM_014363.5):c.9846A>G (p.P3282=), SACS(NM_014363.6):c.9846A>G (p.P3282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23334030T>C" "" "likely benign" "" "0000549996" "0" "50" "13" "23908908" "23908908" "subst" "4.07249E-6" "01943" "SACS_000314" "g.23908908T>C" "" "" "" "SACS(NM_014363.5):c.9107A>G (p.Q3036R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23334769T>C" "" "VUS" "" "0000549997" "0" "30" "13" "23909255" "23909255" "subst" "0" "01943" "SACS_000315" "g.23909255A>T" "" "" "" "SACS(NM_014363.5):c.8760T>A (p.P2920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335116A>T" "" "likely benign" "" "0000549998" "0" "90" "13" "23909324" "23909324" "subst" "0" "02327" "SACS_000316" "g.23909324C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335185C>T" "" "pathogenic" "" "0000549999" "0" "30" "13" "23909533" "23909533" "subst" "0.000273624" "01943" "SACS_000317" "g.23909533T>C" "" "" "" "SACS(NM_014363.5):c.8482A>G (p.S2828G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335394T>C" "" "likely benign" "" "0000550000" "0" "50" "13" "23909622" "23909622" "subst" "0.00161844" "01943" "SACS_000084" "g.23909622G>T" "" "" "" "SACS(NM_014363.5):c.8393C>A (p.P2798Q, p.(Pro2798Gln)), SACS(NM_014363.6):c.8393C>A (p.P2798Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335483G>T" "" "VUS" "" "0000550001" "0" "50" "13" "23909622" "23909622" "subst" "0.00161844" "01804" "SACS_000084" "g.23909622G>T" "" "" "" "SACS(NM_014363.5):c.8393C>A (p.P2798Q, p.(Pro2798Gln)), SACS(NM_014363.6):c.8393C>A (p.P2798Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335483G>T" "" "VUS" "" "0000550002" "0" "50" "13" "23909622" "23909622" "subst" "0.00161844" "02327" "SACS_000084" "g.23909622G>T" "" "" "" "SACS(NM_014363.5):c.8393C>A (p.P2798Q, p.(Pro2798Gln)), SACS(NM_014363.6):c.8393C>A (p.P2798Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335483G>T" "" "VUS" "" "0000550003" "0" "50" "13" "23909622" "23909622" "subst" "0.00161844" "02325" "SACS_000084" "g.23909622G>T" "" "" "" "SACS(NM_014363.5):c.8393C>A (p.P2798Q, p.(Pro2798Gln)), SACS(NM_014363.6):c.8393C>A (p.P2798Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335483G>T" "" "VUS" "" "0000550004" "0" "50" "13" "23909676" "23909676" "subst" "0.0029062" "01943" "SACS_000318" "g.23909676A>C" "" "" "" "SACS(NM_001278055.1):c.7898T>G (p.(Phe2633Cys)), SACS(NM_014363.5):c.8339T>G (p.F2780C), SACS(NM_014363.6):c.8339T>G (p.F2780C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335537A>C" "" "VUS" "" "0000550005" "0" "30" "13" "23909676" "23909676" "subst" "0.0029062" "02325" "SACS_000318" "g.23909676A>C" "" "" "" "SACS(NM_001278055.1):c.7898T>G (p.(Phe2633Cys)), SACS(NM_014363.5):c.8339T>G (p.F2780C), SACS(NM_014363.6):c.8339T>G (p.F2780C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335537A>C" "" "likely benign" "" "0000550006" "0" "30" "13" "23909676" "23909676" "subst" "0.0029062" "02326" "SACS_000318" "g.23909676A>C" "" "" "" "SACS(NM_001278055.1):c.7898T>G (p.(Phe2633Cys)), SACS(NM_014363.5):c.8339T>G (p.F2780C), SACS(NM_014363.6):c.8339T>G (p.F2780C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335537A>C" "" "likely benign" "" "0000550007" "0" "50" "13" "23909770" "23909770" "subst" "0.00027265" "01943" "SACS_000319" "g.23909770T>C" "" "" "" "SACS(NM_014363.5):c.8245A>G (p.I2749V), SACS(NM_014363.6):c.8245A>G (p.I2749V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335631T>C" "" "VUS" "" "0000550008" "0" "30" "13" "23909888" "23909888" "subst" "0.00152141" "01804" "SACS_000221" "g.23909888T>G" "" "" "" "SACS(NM_001278055.1):c.7686A>C (p.(Lys2562Asn)), SACS(NM_014363.5):c.8127A>C (p.K2709N), SACS(NM_014363.6):c.8127A>C (p.K2709N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335749T>G" "" "likely benign" "" "0000550009" "0" "50" "13" "23910487" "23910487" "subst" "0.00122733" "01943" "SACS_000320" "g.23910487C>T" "" "" "" "SACS(NM_014363.5):c.7528G>A (p.A2510T), SACS(NM_014363.6):c.7528G>A (p.A2510T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23336348C>T" "" "VUS" "" "0000550011" "0" "90" "13" "23910511" "23910511" "subst" "2.03171E-5" "02327" "SACS_000003" "g.23910511G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23336372G>A" "" "pathogenic" "" "0000550012" "0" "30" "13" "23910648" "23910648" "subst" "0" "01804" "SACS_000321" "g.23910648G>A" "" "" "" "SACS(NM_001278055.1):c.6926C>T (p.(Thr2309Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23336509G>A" "" "likely benign" "" "0000550013" "0" "30" "13" "23910851" "23910851" "subst" "4.06981E-6" "01943" "SACS_000322" "g.23910851G>A" "" "" "" "SACS(NM_014363.5):c.7164C>T (p.T2388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23336712G>A" "" "likely benign" "" "0000550014" "0" "50" "13" "23910867" "23910867" "subst" "5.69852E-5" "01804" "SACS_000323" "g.23910867C>T" "" "" "" "SACS(NM_014363.5):c.7148G>A (p.(Arg2383His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23336728C>T" "" "VUS" "" "0000550015" "0" "50" "13" "23911156" "23911156" "subst" "4.06729E-6" "01943" "SACS_000324" "g.23911156T>G" "" "" "" "SACS(NM_014363.5):c.6859A>C (p.K2287Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23337017T>G" "" "VUS" "" "0000550016" "0" "50" "13" "23911182" "23911182" "subst" "0" "01943" "SACS_000325" "g.23911182A>G" "" "" "" "SACS(NM_014363.5):c.6833T>C (p.V2278A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23337043A>G" "" "VUS" "" "0000550017" "0" "30" "13" "23911234" "23911234" "subst" "0.00489223" "01804" "SACS_000189" "g.23911234G>T" "" "" "" "SACS(NM_014363.5):c.6781C>A (p.L2261I, p.(Leu2261Ile)), SACS(NM_014363.6):c.6781C>A (p.L2261I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23337095G>T" "" "likely benign" "" "0000550018" "0" "50" "13" "23911240" "23911240" "subst" "0" "02327" "SACS_000326" "g.23911240G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23337101G>A" "" "VUS" "" "0000550019" "0" "30" "13" "23911439" "23911439" "subst" "0.000158782" "01943" "SACS_000327" "g.23911439G>A" "" "" "" "SACS(NM_014363.5):c.6576C>T (p.I2192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23337300G>A" "" "likely benign" "" "0000550022" "0" "50" "13" "23912124" "23912124" "subst" "0" "02327" "SACS_000330" "g.23912124T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23337985T>C" "" "VUS" "" "0000550023" "0" "50" "13" "23912271" "23912271" "subst" "8.12612E-5" "01804" "SACS_000331" "g.23912271T>C" "" "" "" "SACS(NM_001278055.1):c.5303A>G (p.(His1768Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23338132T>C" "" "VUS" "" "0000550024" "0" "30" "13" "23912624" "23912624" "subst" "9.34352E-5" "01943" "SACS_000332" "g.23912624C>G" "" "" "" "SACS(NM_014363.5):c.5391G>C (p.K1797N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23338485C>G" "" "likely benign" "" "0000550026" "0" "50" "13" "23912715" "23912715" "subst" "0" "02325" "SACS_000333" "g.23912715A>C" "" "" "" "SACS(NM_014363.6):c.5300T>G (p.F1767C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23338576A>C" "" "VUS" "" "0000550027" "0" "30" "13" "23912738" "23912738" "subst" "0" "01943" "SACS_000334" "g.23912738A>G" "" "" "" "SACS(NM_014363.5):c.5277T>C (p.I1759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23338599A>G" "" "likely benign" "" "0000550029" "0" "30" "13" "23913549" "23913549" "subst" "0.00943201" "02326" "SACS_000204" "g.23913549T>C" "" "" "" "SACS(NM_014363.5):c.4466A>G (p.N1489S), SACS(NM_014363.6):c.4466A>G (p.N1489S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23339410T>C" "" "likely benign" "" "0000550030" "0" "30" "13" "23913713" "23913713" "subst" "0.00132146" "01943" "SACS_000335" "g.23913713T>C" "" "" "" "SACS(NM_014363.5):c.4302A>G (p.L1434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23339574T>C" "" "likely benign" "" "0000550032" "0" "90" "13" "23914336" "23914336" "delins" "0" "02327" "SACS_000337" "g.23914336delinsTA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23340197delinsTA" "" "pathogenic" "" "0000550035" "0" "30" "13" "23914886" "23914886" "subst" "0.00304986" "02326" "SACS_000246" "g.23914886T>C" "" "" "" "SACS(NM_014363.5):c.3129A>G (p.S1043=), SACS(NM_014363.6):c.3129A>G (p.S1043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23340747T>C" "" "likely benign" "" "0000550036" "0" "30" "13" "23914973" "23914973" "subst" "8.3082E-5" "01943" "SACS_000340" "g.23914973T>C" "" "" "" "SACS(NM_014363.5):c.3042A>G (p.L1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23340834T>C" "" "likely benign" "" "0000550037" "0" "30" "13" "23915027" "23915027" "subst" "0.00190114" "01943" "SACS_000341" "g.23915027T>C" "" "" "" "SACS(NM_014363.5):c.2988A>G (p.L996=), SACS(NM_014363.6):c.2988A>G (p.L996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23340888T>C" "" "likely benign" "" "0000550038" "0" "30" "13" "23915032" "23915032" "subst" "0.00190462" "01943" "SACS_000169" "g.23915032C>A" "" "" "" "SACS(NM_014363.5):c.2983G>T (p.V995F), SACS(NM_014363.6):c.2983G>T (p.V995F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23340893C>A" "" "likely benign" "" "0000550039" "0" "30" "13" "23915239" "23915239" "subst" "0.000199477" "01943" "SACS_000342" "g.23915239T>C" "" "" "" "SACS(NM_014363.5):c.2776A>G (p.I926V), SACS(NM_014363.6):c.2776A>G (p.I926V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23341100T>C" "" "likely benign" "" "0000550040" "0" "50" "13" "23915307" "23915307" "subst" "0" "02327" "SACS_000343" "g.23915307A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23341168A>G" "" "VUS" "" "0000550041" "0" "30" "13" "23915721" "23915721" "subst" "0.000126398" "01943" "SACS_000344" "g.23915721T>C" "" "" "" "SACS(NM_014363.5):c.2294A>G (p.Y765C, p.(Tyr765Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23341582T>C" "" "likely benign" "" "0000550042" "0" "50" "13" "23915721" "23915721" "subst" "0.000126398" "01804" "SACS_000344" "g.23915721T>C" "" "" "" "SACS(NM_014363.5):c.2294A>G (p.Y765C, p.(Tyr765Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23341582T>C" "" "VUS" "" "0000550043" "0" "30" "13" "23927963" "23927963" "subst" "0.00111307" "01804" "SACS_000345" "g.23927963G>A" "" "" "" "SACS(NM_001278055.1):c.1705C>T (p.(His569Tyr)), SACS(NM_014363.5):c.2146C>T (p.H716Y), SACS(NM_014363.6):c.2146C>T (p.H716Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23353824G>A" "" "likely benign" "" "0000550044" "0" "90" "13" "23928828" "23928828" "del" "0" "01943" "SACS_000346" "g.23928828del" "" "" "" "SACS(NM_014363.5):c.1925delG (p.G642Afs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23354689del" "" "pathogenic" "" "0000550045" "0" "90" "13" "23928828" "23928828" "del" "0" "02327" "SACS_000346" "g.23928828del" "" "" "" "SACS(NM_014363.5):c.1925delG (p.G642Afs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23354689del" "" "pathogenic" "" "0000550046" "0" "50" "13" "23929373" "23929373" "subst" "0.000247778" "01804" "SACS_000347" "g.23929373G>A" "" "" "" "SACS(NM_001278055.1):c.937C>T (p.(Leu313Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23355234G>A" "" "VUS" "" "0000550048" "0" "50" "13" "23929714" "23929714" "subst" "1.21877E-5" "01943" "SACS_000349" "g.23929714G>A" "" "" "" "SACS(NM_014363.5):c.1037C>T (p.P346L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23355575G>A" "" "VUS" "" "0000550049" "0" "50" "13" "23929755" "23929763" "del" "0" "02327" "SACS_000350" "g.23929755_23929763del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23355616_23355624del" "" "VUS" "" "0000550050" "0" "50" "13" "23930112" "23930112" "subst" "0" "01943" "SACS_000351" "g.23930112C>A" "" "" "" "SACS(NM_014363.5):c.639G>T (p.G213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23355973C>A" "" "VUS" "" "0000580237" "1" "90" "13" "23905617" "23905617" "del" "0" "00006" "SACS_000352" "g.23905617del" "" "{PMID:Rafehi 2019:31230722}" "" "12398delT" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.23331037del" "" "pathogenic (recessive)" "" "0000580238" "2" "90" "13" "23912268" "23912268" "subst" "0" "00006" "SACS_000353" "g.23912268A>T" "" "{PMID:Rafehi 2019:31230722}" "" "NM_001278055:c.5306T>A (Val1769Asp)" "" "Germline" "" "" "0" "" "" "g.23338129A>T" "" "pathogenic (recessive)" "" "0000614532" "0" "70" "13" "23898678" "23898678" "subst" "0" "02327" "SGCG_000183" "g.23898678T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23324539T>C" "" "likely pathogenic" "" "0000614533" "0" "30" "13" "23905116" "23905116" "subst" "0" "02326" "SACS_000354" "g.23905116A>T" "" "" "" "SACS(NM_014363.6):c.12899T>A (p.V4300D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23330977A>T" "" "likely benign" "" "0000614534" "0" "10" "13" "23907033" "23907033" "subst" "0.000970304" "02327" "SACS_000355" "g.23907033G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332894G>A" "" "benign" "" "0000614535" "0" "50" "13" "23907061" "23907061" "subst" "3.66757E-5" "02327" "SACS_000069" "g.23907061G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332922G>T" "" "VUS" "" "0000614536" "0" "50" "13" "23907108" "23907108" "subst" "8.14956E-6" "02327" "SACS_000068" "g.23907108C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23332969C>T" "" "VUS" "" "0000614537" "0" "50" "13" "23907679" "23907679" "subst" "0" "01943" "SACS_000356" "g.23907679G>A" "" "" "" "SACS(NM_014363.5):c.10336C>T (p.Q3446*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23333540G>A" "" "VUS" "" "0000614538" "0" "10" "13" "23909142" "23909142" "subst" "0.00563997" "02327" "SACS_000357" "g.23909142T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23335003T>C" "" "benign" "" "0000614539" "0" "30" "13" "23910278" "23910278" "subst" "0.000468123" "02327" "SACS_000358" "g.23910278C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23336139C>T" "" "likely benign" "" "0000614540" "0" "30" "13" "23910488" "23910488" "subst" "0.000475444" "02327" "SACS_000359" "g.23910488A>G" "" "" "" "SACS(NM_014363.5):c.7527T>C (p.Y2509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23336349A>G" "" "likely benign" "" "0000614541" "0" "30" "13" "23913939" "23913939" "subst" "0.00193896" "02325" "SACS_000182" "g.23913939A>G" "" "" "" "SACS(NM_014363.5):c.4076T>C (p.M1359T), SACS(NM_014363.6):c.4076T>C (p.M1359T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23339800A>G" "" "likely benign" "" "0000614542" "0" "50" "13" "23915044" "23915044" "subst" "0" "02327" "SACS_000101" "g.23915044A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23340905A>G" "" "VUS" "" "0000614543" "0" "10" "13" "23915294" "23915294" "subst" "0.000611656" "02327" "SACS_000363" "g.23915294C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23341155C>T" "" "benign" "" "0000614544" "0" "30" "13" "23928730" "23928730" "subst" "8.12572E-6" "01804" "SACS_000364" "g.23928730C>T" "" "" "" "SACS(NM_001278055.1):c.1580G>A (p.(Gly527Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23354591C>T" "" "likely benign" "" "0000614545" "0" "50" "13" "23929592" "23929592" "subst" "0" "02326" "SACS_000365" "g.23929592C>T" "" "" "" "SACS(NM_014363.6):c.1159G>A (p.A387T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23355453C>T" "" "VUS" "" "0000623032" "0" "90" "13" "23910809" "23910810" "del" "2.03459E-5" "02329" "SACS_000360" "g.23910809_23910810del" "" "" "" "SACS(NM_014363.6):c.7205_7206delTT (p.L2402Rfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23336670_23336671del" "" "pathogenic" "" "0000623033" "0" "50" "13" "23911720" "23911720" "subst" "0" "01943" "SACS_000361" "g.23911720G>A" "" "" "" "SACS(NM_014363.5):c.6295C>T (p.P2099S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23337581G>A" "" "VUS" "" "0000623034" "0" "30" "13" "23915190" "23915190" "subst" "2.03249E-5" "01943" "SACS_000362" "g.23915190G>A" "" "" "" "SACS(NM_014363.5):c.2825C>T (p.T942I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23341051G>A" "" "likely benign" "" "0000623035" "0" "30" "13" "23929941" "23929941" "subst" "0.00136875" "01943" "SACS_000366" "g.23929941A>C" "" "" "" "SACS(NM_014363.5):c.810T>G (p.F270L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23355802A>C" "" "likely benign" "" "0000623036" "0" "50" "13" "23930089" "23930089" "subst" "0" "02329" "SACS_000367" "g.23930089A>G" "" "" "" "SACS(NM_014363.6):c.662T>C (p.L221P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23355950A>G" "" "VUS" "" "0000648714" "1" "50" "13" "23904298" "23904298" "subst" "0.0031823" "03575" "SACS_000205" "g.23904298T>G" "2/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs34382952}" "Germline" "" "rs34382952" "0" "" "" "g.23330159T>G" "" "VUS" "" "0000648715" "1" "50" "13" "23908464" "23908464" "subst" "9.01817E-5" "03575" "SACS_000368" "g.23908464C>T" "5/2783 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs200453385}" "Germline" "" "rs200453385" "0" "" "" "g.23334325C>T" "" "VUS" "" "0000648716" "1" "50" "13" "23909025" "23909025" "subst" "8.57598E-5" "03575" "SACS_000369" "g.23909025C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs139670073}" "Germline" "" "rs139670073" "0" "" "" "g.23334886C>T" "" "VUS" "" "0000648717" "1" "50" "13" "23909676" "23909676" "subst" "0.0029062" "03575" "SACS_000318" "g.23909676A>C" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; {DB:CLININrs111540787}" "Germline" "" "rs111540787" "0" "" "" "g.23335537A>C" "" "VUS" "" "0000648718" "1" "50" "13" "23910487" "23910487" "subst" "0.00122733" "03575" "SACS_000320" "g.23910487C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs111920492}" "Germline" "" "rs111920492" "0" "" "" "g.23336348C>T" "" "VUS" "" "0000648719" "1" "10" "13" "23928671" "23928671" "subst" "0.0241001" "03575" "SACS_000251" "g.23928671C>T" "30/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous; {DB:CLININrs17325713}" "Germline" "" "rs17325713" "0" "" "" "g.23354532C>T" "" "benign" "" "0000648720" "1" "30" "13" "23929842" "23929842" "subst" "0.036716" "03575" "SACS_000256" "g.23929842T>C" "136/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "136 heterozygous; {DB:CLININrs41315020}" "Germline" "" "rs41315020" "0" "" "" "g.23355703T>C" "" "likely benign" "" "0000657263" "0" "30" "13" "23910488" "23910488" "subst" "0.000475444" "01943" "SACS_000359" "g.23910488A>G" "" "" "" "SACS(NM_014363.5):c.7527T>C (p.Y2509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23336349A>G" "" "likely benign" "" "0000657264" "0" "70" "13" "23911681" "23911681" "subst" "0" "01943" "SACS_000370" "g.23911681T>A" "" "" "" "SACS(NM_014363.5):c.6334A>T (p.R2112*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23337542T>A" "" "likely pathogenic" "" "0000657265" "0" "50" "13" "23929084" "23929084" "subst" "0" "01943" "SACS_000104" "g.23929084A>G" "" "" "" "SACS(NM_014363.5):c.1667T>C (p.L556P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23354945A>G" "" "VUS" "" "0000657266" "0" "50" "13" "23929779" "23929779" "subst" "0.000341197" "01943" "SACS_000371" "g.23929779G>T" "" "" "" "SACS(NM_014363.5):c.972C>A (p.D324E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23355640G>T" "" "VUS" "" "0000669212" "3" "10" "13" "23928671" "23928671" "subst" "0.0241001" "03575" "SACS_000251" "g.23928671C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs17325713}" "Germline" "" "rs17325713" "0" "" "" "g.23354532C>T" "" "benign" "" "0000669213" "3" "30" "13" "23929842" "23929842" "subst" "0.036716" "03575" "SACS_000256" "g.23929842T>C" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs41315020}" "Germline" "" "rs41315020" "0" "" "" "g.23355703T>C" "" "likely benign" "" "0000674872" "3" "30" "13" "23911430" "23911430" "subst" "4.07156E-6" "00006" "SACS_000372" "g.23911430T>A" "" "{DOI:Mascibroda 2020:10.1101/2020.07.20.209130}" "" "" "" "Germline" "" "" "0" "" "" "g.23337291T>A" "" "likely benign" "" "0000674873" "3" "30" "13" "23911430" "23911430" "subst" "4.07156E-6" "00006" "SACS_000372" "g.23911430T>A" "" "{DOI:Mascibroda 2020:10.1101/2020.07.20.209130}" "" "" "" "Germline" "" "" "0" "" "" "g.23337291T>A" "" "likely benign" "" "0000675239" "1" "90" "13" "23907770" "23907770" "dup" "0" "00006" "SACS_000373" "g.23907770dup" "" "{PMID:Krygier 2019:30548255}" "" "10245_10246insC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000675240" "2" "90" "13" "23905000" "23905000" "subst" "0" "00006" "SACS_000374" "g.23905000C>T" "" "{PMID:Krygier 2019:30548255}," "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000679741" "0" "50" "13" "23906860" "23906860" "subst" "0" "02327" "SACS_000375" "g.23906860G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679742" "0" "50" "13" "23907885" "23907885" "subst" "4.06981E-6" "02325" "SACS_000376" "g.23907885T>C" "" "" "" "SACS(NM_014363.6):c.10130A>G (p.E3377G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679743" "0" "30" "13" "23908007" "23908007" "subst" "0.000318123" "02326" "SACS_000377" "g.23908007T>C" "" "" "" "SACS(NM_014363.6):c.10008A>G (p.K3336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679744" "0" "30" "13" "23927963" "23927963" "subst" "0.00111307" "01943" "SACS_000345" "g.23927963G>A" "" "" "" "SACS(NM_001278055.1):c.1705C>T (p.(His569Tyr)), SACS(NM_014363.5):c.2146C>T (p.H716Y), SACS(NM_014363.6):c.2146C>T (p.H716Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691485" "0" "70" "13" "23905283" "23905284" "del" "0" "01943" "SACS_000378" "g.23905283_23905284del" "" "" "" "SACS(NM_014363.5):c.12731_12732delAG (p.K4244Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691486" "0" "50" "13" "23913081" "23913081" "subst" "0" "01943" "SACS_000379" "g.23913081C>A" "" "" "" "SACS(NM_014363.5):c.4934G>T (p.R1645L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691487" "0" "50" "13" "23929532" "23929532" "subst" "8.12519E-5" "01943" "SACS_000380" "g.23929532G>T" "" "" "" "SACS(NM_014363.5):c.1219C>A (p.L407I), SACS(NM_014363.6):c.1219C>A (p.(Leu407Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724383" "0" "30" "13" "23905202" "23905202" "subst" "0.000491738" "02326" "SACS_000296" "g.23905202A>C" "" "" "" "SACS(NM_014363.6):c.12813T>G (p.P4271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724384" "0" "30" "13" "23907235" "23907235" "subst" "0" "01943" "SACS_000381" "g.23907235T>A" "" "" "" "SACS(NM_014363.5):c.10780A>T (p.I3594L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724385" "0" "30" "13" "23910304" "23910304" "subst" "0" "01943" "SACS_000382" "g.23910304G>C" "" "" "" "SACS(NM_014363.5):c.7711C>G (p.P2571A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724386" "0" "50" "13" "23910487" "23910487" "subst" "0.00122733" "02325" "SACS_000320" "g.23910487C>T" "" "" "" "SACS(NM_014363.5):c.7528G>A (p.A2510T), SACS(NM_014363.6):c.7528G>A (p.A2510T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724387" "0" "30" "13" "23910850" "23910850" "subst" "0.000777345" "01943" "SACS_000383" "g.23910850C>T" "" "" "" "SACS(NM_014363.5):c.7165G>A (p.V2389M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724388" "0" "50" "13" "23911651" "23911651" "subst" "0.000117995" "01943" "SACS_000384" "g.23911651T>C" "" "" "" "SACS(NM_014363.5):c.6364A>G (p.K2122E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724389" "0" "50" "13" "23913901" "23913901" "subst" "3.25177E-5" "01943" "SACS_000385" "g.23913901G>T" "" "" "" "SACS(NM_014363.5):c.4114C>A (p.P1372T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724390" "0" "30" "13" "23929189" "23929189" "subst" "6.91214E-5" "01943" "SACS_000386" "g.23929189C>G" "" "" "" "SACS(NM_014363.5):c.1562G>C (p.S521T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724391" "0" "30" "13" "23949339" "23949339" "subst" "0" "01943" "SACS_000387" "g.23949339G>A" "" "" "" "SACS(NM_014363.5):c.90C>T (p.T30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787168" "3" "50" "13" "23929144" "23929144" "subst" "8.13114E-6" "00006" "SACS_000047" "g.23929144G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1440541889" "0" "" "" "g.23355005G>A" "{CV-RCV:000523535.1}" "VUS" "" "0000787374" "3" "50" "13" "23930149" "23930149" "subst" "0" "00006" "SACS_000389" "g.23930149G>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.23356010G>C" "" "VUS" "" "0000787375" "3" "50" "13" "23910999" "23910999" "subst" "4.0714E-6" "00006" "SACS_000388" "g.23910999T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs557648891" "0" "" "" "g.23336860T>C" "" "VUS" "" "0000806045" "0" "90" "13" "23898652" "23898652" "subst" "4.0656E-6" "01804" "SGCG_000002" "g.23898652G>A" "" "" "" "SGCG(NM_000231.2):c.848G>A (p.(Cys283Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806046" "0" "30" "13" "23905912" "23905912" "subst" "6.5171E-5" "01943" "SACS_000390" "g.23905912T>C" "" "" "" "SACS(NM_014363.5):c.12103A>G (p.I4035V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806047" "0" "50" "13" "23908453" "23908453" "subst" "0.000276125" "01943" "SACS_000391" "g.23908453A>G" "" "" "" "SACS(NM_014363.5):c.9562T>C (p.F3188L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806048" "0" "70" "13" "23908507" "23908507" "subst" "4.07734E-6" "01943" "SACS_000092" "g.23908507G>A" "" "" "" "SACS(NM_014363.5):c.9508C>T (p.R3170*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000806049" "0" "30" "13" "23909993" "23909993" "subst" "0.00100071" "01943" "SACS_000392" "g.23909993A>G" "" "" "" "SACS(NM_014363.5):c.8022T>C (p.F2674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806050" "0" "50" "13" "23913079" "23913079" "subst" "0.000183385" "01943" "SACS_000393" "g.23913079G>T" "" "" "" "SACS(NM_014363.5):c.4936C>A (p.L1646M), SACS(NM_014363.6):c.4936C>A (p.(Leu1646Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833394" "1" "50" "13" "23907033" "23907033" "subst" "0.000970304" "00006" "SACS_000355" "g.23907033G>A" "" "{PMID:Martin 2017:29220673}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000833395" "2" "50" "13" "23907106" "23907106" "subst" "0.000370769" "00006" "SACS_000394" "g.23907106T>C" "" "{PMID:Martin 2017:29220673}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000841444" "3" "90" "13" "23911773" "23911773" "subst" "0" "00435" "SACS_000395" "g.23911773G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841447" "3" "90" "13" "23929550" "23929550" "subst" "4.06322E-6" "00435" "SACS_000396" "g.23929550G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000842399" "3" "50" "13" "23913897" "23913898" "delins" "0" "00006" "SACS_000397" "g.23913897_23913898delinsCT" "" "{PMID:Sharifi 2021:33481221}" "" "c.4117_4118delGCinsAG" "" "Germline" "" "" "0" "" "" "g.23339758_23339759delinsCT" "" "VUS" "ACMG" "0000847152" "1" "90" "13" "23942624" "23942624" "subst" "0" "00006" "SACS_000400" "g.23942624G>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.23368485G>A" "" "pathogenic" "ACMG" "0000847157" "3" "90" "13" "23906830" "23906830" "subst" "0" "00006" "SACS_000054" "g.23906830G>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.23332691G>A" "" "pathogenic" "ACMG" "0000847179" "2" "90" "13" "23911677" "23911680" "del" "0" "00006" "SACS_000399" "g.23911677_23911680del" "" "{PMID:Thomas 2022:34085946}" "" "c.6338_6341delTGAT" "" "Germline" "" "" "0" "" "" "g.23337538_23337541del" "" "pathogenic" "" "0000847196" "1" "50" "13" "23912112" "23912112" "subst" "7.32279E-5" "00006" "SACS_000398" "g.23912112G>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000847197" "2" "50" "13" "23914588" "23914588" "subst" "0.00111832" "00006" "SACS_000339" "g.23914588G>T" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000853593" "0" "30" "13" "23910487" "23910487" "subst" "0.00122733" "02327" "SACS_000320" "g.23910487C>T" "" "" "" "SACS(NM_014363.5):c.7528G>A (p.A2510T), SACS(NM_014363.6):c.7528G>A (p.A2510T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863234" "0" "10" "13" "23898489" "23898489" "subst" "0.0140223" "01804" "SGCG_000063" "g.23898489T>C" "" "" "" "SGCG(NM_000231.2):c.703-18T>C (p.(=)), SGCG(NM_000231.3):c.703-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863235" "0" "10" "13" "23905711" "23905711" "subst" "0.286901" "02326" "SACS_000209" "g.23905711A>G" "" "" "" "SACS(NM_014363.5):c.12304T>C (p.L4102=), SACS(NM_014363.6):c.12304T>C (p.L4102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863236" "0" "30" "13" "23909676" "23909676" "subst" "0.0029062" "01804" "SACS_000318" "g.23909676A>C" "" "" "" "SACS(NM_001278055.1):c.7898T>G (p.(Phe2633Cys)), SACS(NM_014363.5):c.8339T>G (p.F2780C), SACS(NM_014363.6):c.8339T>G (p.F2780C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863237" "0" "50" "13" "23912614" "23912614" "subst" "0" "01804" "SACS_000401" "g.23912614A>C" "" "" "" "SACS(NM_001278055.1):c.4960T>G (p.(Ser1654Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863238" "0" "30" "13" "23915943" "23915945" "del" "0" "02326" "SACS_000402" "g.23915943_23915945del" "" "" "" "SACS(NM_014363.6):c.2186-93_2186-91delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874557" "0" "90" "13" "23905855" "23905855" "subst" "1.63119E-5" "03779" "SACS_000030" "g.23905855G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs281865120" "0" "" "" "" "" "pathogenic" "" "0000874567" "0" "70" "13" "23907921" "23907921" "subst" "0" "03779" "SACS_000403" "g.23907921A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000890908" "0" "30" "13" "23907724" "23907724" "subst" "0.00147427" "02326" "SACS_000404" "g.23907724C>G" "" "" "" "SACS(NM_014363.6):c.10291G>C (p.V3431L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890909" "0" "30" "13" "23909888" "23909888" "subst" "0.00152141" "02326" "SACS_000221" "g.23909888T>G" "" "" "" "SACS(NM_001278055.1):c.7686A>C (p.(Lys2562Asn)), SACS(NM_014363.5):c.8127A>C (p.K2709N), SACS(NM_014363.6):c.8127A>C (p.K2709N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890910" "0" "50" "13" "23910733" "23910733" "subst" "4.07448E-6" "02329" "SACS_000225" "g.23910733T>C" "" "" "" "SACS(NM_014363.5):c.7282A>G (p.I2428V), SACS(NM_014363.6):c.7282A>G (p.I2428V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890911" "0" "50" "13" "23913030" "23913030" "subst" "0.000265506" "02325" "SACS_000236" "g.23913030G>A" "" "" "" "SACS(NM_014363.5):c.4985C>T (p.T1662M), SACS(NM_014363.6):c.4985C>T (p.T1662M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890912" "0" "30" "13" "23913939" "23913939" "subst" "0.00193896" "02326" "SACS_000182" "g.23913939A>G" "" "" "" "SACS(NM_014363.5):c.4076T>C (p.M1359T), SACS(NM_014363.6):c.4076T>C (p.M1359T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890913" "0" "30" "13" "23915027" "23915027" "subst" "0.00190114" "02326" "SACS_000341" "g.23915027T>C" "" "" "" "SACS(NM_014363.5):c.2988A>G (p.L996=), SACS(NM_014363.6):c.2988A>G (p.L996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890914" "0" "30" "13" "23915032" "23915032" "subst" "0.00190462" "02326" "SACS_000169" "g.23915032C>A" "" "" "" "SACS(NM_014363.5):c.2983G>T (p.V995F), SACS(NM_014363.6):c.2983G>T (p.V995F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890915" "0" "30" "13" "23915435" "23915435" "subst" "0.00030933" "02326" "SACS_000249" "g.23915435T>C" "" "" "" "SACS(NM_014363.5):c.2580A>G (p.Q860=), SACS(NM_014363.6):c.2580A>G (p.Q860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890916" "0" "90" "13" "23915454" "23915472" "del" "0" "02329" "SACS_000405" "g.23915454_23915472del" "" "" "" "SACS(NM_014363.6):c.2543_2561delGAGGGTTTGTCCTTAAAAA (p.G848Dfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890917" "0" "30" "13" "23927963" "23927963" "subst" "0.00111307" "02326" "SACS_000345" "g.23927963G>A" "" "" "" "SACS(NM_001278055.1):c.1705C>T (p.(His569Tyr)), SACS(NM_014363.5):c.2146C>T (p.H716Y), SACS(NM_014363.6):c.2146C>T (p.H716Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890918" "0" "30" "13" "23929378" "23929378" "subst" "0.00264812" "02326" "SACS_000152" "g.23929378G>A" "" "" "" "SACS(NM_014363.5):c.1373C>T (p.T458I), SACS(NM_014363.6):c.1373C>T (p.T458I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930183" "0" "50" "13" "23913938" "23913938" "subst" "0" "02325" "SACS_000406" "g.23913938C>A" "" "" "" "SACS(NM_014363.6):c.4077G>T (p.M1359I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930184" "0" "30" "13" "23915239" "23915239" "subst" "0.000199477" "02326" "SACS_000342" "g.23915239T>C" "" "" "" "SACS(NM_014363.5):c.2776A>G (p.I926V), SACS(NM_014363.6):c.2776A>G (p.I926V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946839" "3" "90" "13" "23929550" "23929550" "subst" "4.06322E-6" "00006" "SACS_000396" "g.23929550G>A" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP3,PP5" "Germline" "yes" "rs769212398" "0" "" "" "g.23355411G>A" "" "pathogenic (recessive)" "" "0000946840" "3" "90" "13" "23929550" "23929550" "subst" "4.06322E-6" "00006" "SACS_000396" "g.23929550G>A" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP3,PP5" "Germline" "yes" "rs769212398" "0" "" "" "g.23355411G>A" "" "pathogenic (recessive)" "" "0000946841" "3" "90" "13" "23929550" "23929550" "subst" "4.06322E-6" "00006" "SACS_000396" "g.23929550G>A" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP3,PP5" "Germline" "yes" "rs769212398" "0" "" "" "g.23355411G>A" "" "pathogenic (recessive)" "" "0000950066" "0" "10" "13" "23939440" "23939440" "del" "0" "02326" "SACS_000407" "g.23939440del" "" "" "" "SACS(NM_014363.6):c.346-19delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967174" "0" "50" "13" "23929378" "23929378" "subst" "0.00264812" "02327" "SACS_000152" "g.23929378G>A" "" "" "" "SACS(NM_014363.5):c.1373C>T (p.T458I), SACS(NM_014363.6):c.1373C>T (p.T458I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980587" "0" "50" "13" "23904332" "23904332" "subst" "0" "01804" "SACS_000408" "g.23904332C>T" "" "" "" "SACS(NM_014363.6):c.13683G>A (p.(Met4561Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980588" "0" "50" "13" "23909115" "23909115" "subst" "2.03457E-5" "02325" "SACS_000409" "g.23909115C>T" "" "" "" "SACS(NM_014363.6):c.8900G>A (p.R2967H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980589" "0" "50" "13" "23915656" "23915656" "subst" "0" "01804" "SACS_000410" "g.23915656A>G" "" "" "" "SACS(NM_014363.6):c.2359T>C (p.(Tyr787His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980590" "0" "50" "13" "23928866" "23928866" "subst" "0.000525351" "02325" "SACS_000411" "g.23928866C>T" "" "" "" "SACS(NM_014363.6):c.1885G>A (p.A629T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980591" "0" "50" "13" "23929532" "23929532" "subst" "8.12519E-5" "01804" "SACS_000380" "g.23929532G>T" "" "" "" "SACS(NM_014363.5):c.1219C>A (p.L407I), SACS(NM_014363.6):c.1219C>A (p.(Leu407Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985190" "21" "70" "13" "23930128" "23930128" "subst" "0" "03544" "SACS_000412" "g.23930128C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.23355989C>T" "" "likely pathogenic" "ACMG" "0000985191" "10" "70" "13" "23929023" "23929023" "subst" "0" "03544" "SACS_000413" "g.23929023G>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.23354884G>C" "" "likely pathogenic" "ACMG" "0000988633" "11" "90" "13" "23913995" "23913995" "subst" "0" "03544" "SACS_000415" "g.23913995A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.23339856A>T" "" "likely pathogenic" "ACMG" "0000988634" "21" "90" "13" "23905858" "23905865" "delins" "0" "03544" "SACS_000414" "g.23905858_23905865delinsAAG" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.23331719_23331726delinsAAG" "" "likely pathogenic" "ACMG" "0001000471" "0" "50" "13" "23904781" "23904781" "subst" "4.0627E-6" "01804" "SACS_000416" "g.23904781T>C" "" "" "" "SACS(NM_014363.5):c.13234A>G (p.(Arg4412Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000472" "0" "50" "13" "23904991" "23904991" "subst" "8.16973E-6" "02327" "SACS_000417" "g.23904991G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000473" "0" "30" "13" "23907186" "23907186" "subst" "0" "01804" "SACS_000418" "g.23907186C>G" "" "" "" "SACS(NM_014363.5):c.10829G>C (p.(Arg3610Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000474" "0" "50" "13" "23907783" "23907783" "subst" "4.06941E-6" "01804" "SACS_000419" "g.23907783G>A" "" "" "" "SACS(NM_014363.5):c.10232C>T (p.(Pro3411Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000475" "0" "30" "13" "23911852" "23911852" "subst" "2.45323E-5" "01804" "SACS_000420" "g.23911852G>T" "" "" "" "SACS(NM_014363.5):c.6163C>A (p.(Gln2055Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000476" "0" "30" "13" "23914588" "23914588" "subst" "0.00111832" "02327" "SACS_000339" "g.23914588G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011921" "1" "90" "13" "23912524" "23912524" "del" "0" "00006" "SACS_000421" "g.23912524del" "" "{PMID:Salinas 2020:33084218}" "" "NM_001278055:c.5051delA" "" "Germline" "" "" "0" "" "" "g.23338385del" "SUB7801289" "pathogenic (recessive)" "" "0001011971" "1" "90" "13" "23913082" "23913082" "subst" "0" "00006" "SACS_000422" "g.23913082G>A" "" "{PMID:Salinas 2020:33084218}" "" "NM_001278055:c.4492C>T" "" "Germline" "" "" "0" "" "" "g.23338943G>A" "SUB7803125" "pathogenic (recessive)" "" "0001012000" "2" "90" "13" "23929550" "23929550" "subst" "4.06322E-6" "00006" "SACS_000396" "g.23929550G>A" "" "{PMID:Salinas 2020:33084218}" "" "NM_001278055:c.760C>T" "" "Germline" "" "" "0" "" "" "g.23355411G>A" "SUB7801298" "pathogenic (recessive)" "" "0001012010" "2" "90" "13" "23915627" "23915627" "dup" "0" "00006" "SACS_000423" "g.23915627dup" "" "{PMID:Salinas 2020:33084218}" "" "NM_001278055:c.2388dupA" "" "Germline" "" "" "0" "" "" "g.23341488dup" "SUB7803129" "pathogenic (recessive)" "" "0001015039" "0" "50" "13" "23906739" "23906739" "subst" "1.62817E-5" "02327" "SACS_000424" "g.23906739G>A" "" "" "" "SACS(NM_014363.6):c.11276C>T (p.(Thr3759Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015040" "0" "50" "13" "23939330" "23939330" "subst" "8.55857E-5" "02327" "SACS_000259" "g.23939330C>A" "" "" "" "SACS(NM_014363.5):c.432G>T (p.W144C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026266" "0" "30" "13" "23910487" "23910487" "subst" "0.00122733" "02326" "SACS_000320" "g.23910487C>T" "" "" "" "SACS(NM_014363.5):c.7528G>A (p.A2510T), SACS(NM_014363.6):c.7528G>A (p.A2510T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026267" "0" "30" "13" "23913549" "23913549" "subst" "0.00943201" "02325" "SACS_000204" "g.23913549T>C" "" "" "" "SACS(NM_014363.5):c.4466A>G (p.N1489S), SACS(NM_014363.6):c.4466A>G (p.N1489S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039606" "0" "50" "13" "23906688" "23906688" "subst" "4.06613E-5" "01804" "SACS_000425" "g.23906688A>G" "" "" "" "SACS(NM_014363.6):c.11327T>C (p.(Ile3776Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039607" "0" "50" "13" "23906739" "23906739" "subst" "1.62817E-5" "01804" "SACS_000424" "g.23906739G>A" "" "" "" "SACS(NM_014363.6):c.11276C>T (p.(Thr3759Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039608" "0" "50" "13" "23909059" "23909059" "subst" "4.07508E-6" "01804" "SACS_000426" "g.23909059G>C" "" "" "" "SACS(NM_014363.6):c.8956C>G (p.(His2986Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039609" "0" "50" "13" "23909770" "23909770" "subst" "0.00027265" "02325" "SACS_000319" "g.23909770T>C" "" "" "" "SACS(NM_014363.5):c.8245A>G (p.I2749V), SACS(NM_014363.6):c.8245A>G (p.I2749V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039610" "0" "50" "13" "23910076" "23910076" "subst" "0" "01804" "SACS_000427" "g.23910076T>C" "" "" "" "SACS(NM_014363.6):c.7939A>G (p.(Ile2647Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039611" "0" "30" "13" "23910852" "23910852" "subst" "6.91861E-5" "01804" "SACS_000428" "g.23910852G>A" "" "" "" "SACS(NM_014363.6):c.7163C>T (p.(Thr2388Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039612" "0" "50" "13" "23910952" "23910952" "subst" "0" "01804" "SACS_000429" "g.23910952C>T" "" "" "" "SACS(NM_014363.6):c.7063G>A (p.(Asp2355Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039613" "0" "50" "13" "23911063" "23911063" "subst" "0.000207536" "01804" "SACS_000227" "g.23911063C>T" "" "" "" "SACS(NM_014363.5):c.6952G>A (p.A2318T), SACS(NM_014363.6):c.6952G>A (p.(Ala2318Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039614" "0" "50" "13" "23911375" "23911375" "subst" "0.000122029" "01804" "SACS_000430" "g.23911375G>A" "" "" "" "SACS(NM_014363.6):c.6640C>T (p.(Arg2214Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039615" "0" "50" "13" "23911602" "23911602" "subst" "4.07588E-6" "01804" "SACS_000431" "g.23911602T>A" "" "" "" "SACS(NM_014363.6):c.6413A>T (p.(Asp2138Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039616" "0" "50" "13" "23912938" "23912938" "subst" "1.63317E-5" "01804" "SACS_000432" "g.23912938T>C" "" "" "" "SACS(NM_014363.6):c.5077A>G (p.(Met1693Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039617" "0" "50" "13" "23913079" "23913079" "subst" "0.000183385" "01804" "SACS_000393" "g.23913079G>T" "" "" "" "SACS(NM_014363.5):c.4936C>A (p.L1646M), SACS(NM_014363.6):c.4936C>A (p.(Leu1646Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039618" "0" "50" "13" "23913843" "23913843" "subst" "1.21894E-5" "01804" "SACS_000433" "g.23913843A>G" "" "" "" "SACS(NM_014363.6):c.4172T>C (p.(Ile1391Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039619" "0" "50" "13" "23915790" "23915790" "subst" "0" "01804" "SACS_000434" "g.23915790C>T" "" "" "" "SACS(NM_014363.6):c.2225G>A (p.(Arg742Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039620" "0" "50" "13" "23929778" "23929778" "subst" "0.000369633" "01804" "SACS_000435" "g.23929778C>T" "" "" "" "SACS(NM_014363.6):c.973G>A (p.(Gly325Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039621" "0" "50" "13" "23929795" "23929795" "subst" "1.2186E-5" "01804" "SACS_000436" "g.23929795T>A" "" "" "" "SACS(NM_014363.6):c.956A>T (p.(Tyr319Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039622" "0" "50" "13" "23949263" "23949263" "subst" "0" "01804" "SACS_000437" "g.23949263G>A" "" "" "" "SACS(NM_014363.6):c.166C>T (p.(Arg56Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046415" "0" "30" "13" "23904298" "23904298" "subst" "0.0031823" "01804" "SACS_000205" "g.23904298T>G" "" "" "" "SACS(NM_001278055.1):c.13276A>C (p.(Asn4426His)), SACS(NM_014363.5):c.13717A>C (p.N4573H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SACS ## Count = 663 "{{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}}" "0000090063" "00024113" "90" "7739" "0" "7739" "0" "c.7739G>A" "r.(?)" "p.(Trp2580*)" "10" "0000091297" "00024113" "90" "2115" "0" "2116" "0" "c.2115_2116insC" "r.(?)" "p.(Gly706Argfs*7)" "9" "0000237849" "00024113" "90" "11914" "0" "11914" "0" "c.11914C>T" "r.(?)" "p.(Arg3972*)" "10" "0000237850" "00024113" "90" "3298" "0" "3301" "0" "c.3298_3301del" "r.(?)" "p.(Glu1100Argfs*25)" "10" "0000237916" "00024113" "75" "-1" "0" "-1" "0" "c.(?_-1)_(-1_?)dup" "r.?" "p.?" "_1_10_" "0000237917" "00024113" "95" "11242" "0" "11929" "0" "c.11242_11929del" "r.(?)" "p.(Val3748Tyrfs*6)" "10" "0000237918" "00024113" "95" "11242" "0" "11929" "0" "c.11242_11929del" "r.(?)" "p.(Val3748Tyrfs*6)" "10" "0000237919" "00024113" "95" "11361" "0" "11361" "0" "c.11361dup" "r.(?)" "p.(Arg3788Serfs*22)" "10" "0000237920" "00024113" "95" "0" "0" "0" "0" "c.1475ˆ1476G>A" "r.?" "p.(Trp492*)" "8" "0000237921" "00024113" "95" "21" "-1" "345" "1" "c.(20+1_21-1)_(345+1_346-1)dup" "r.(?)" "p.fs*" "2i_5i" "0000237922" "00024113" "95" "6004" "0" "6006" "0" "c.(6004_6006)del?" "r.(?)" "p.(Arg2002fs*2013)" "10" "0000237923" "00024113" "95" "9910" "0" "9912" "0" "c.(9910_9912)del?" "r.(?)" "p.(Leu3304fs*)" "10" "0000237924" "00024113" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000237925" "00024113" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000237926" "00024113" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000237927" "00024113" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000237928" "00024113" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000237929" "00024113" "95" "0" "0" "0" "0" "c.0" "r.(?)" "p.0" "_1_10_" "0000237930" "00024113" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000237931" "00024113" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000237932" "00024113" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000237933" "00024113" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000237934" "00024113" "95" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000237935" "00024113" "35" "10034" "0" "10034" "0" "c.10034T>C" "r.(?)" "p.(Val3345Ala)" "10" "0000237936" "00024113" "35" "10034" "0" "10034" "0" "c.10034T>C" "r.(?)" "p.(Val3345Ala)" "10" "0000237937" "00024113" "95" "10290" "0" "10290" "0" "c.10290C>G" "r.(?)" "p.(Tyr3430*)" "10" "0000237938" "00024113" "95" "10298" "0" "10298" "0" "c.10298del" "r.(?)" "p.(Thr3433Lysfs*27)" "10" "0000237939" "00024113" "95" "10442" "0" "10442" "0" "c.10442T>C" "r.(?)" "p.(Leu3481Pro)" "10" "0000237940" "00024113" "95" "10466" "0" "10467" "0" "c.10466_10467del" "r.(?)" "p.(Ser3489Leufs*2)" "10" "0000237941" "00024113" "77" "10550" "0" "10550" "0" "c.10550T>G" "r.(?)" "p.(Leu3517Arg)" "10" "0000237942" "00024113" "77" "10651" "0" "10656" "0" "c.10651_10656del" "r.(?)" "p.(Met3551_Leu3552del)" "10" "0000237943" "00024113" "95" "10906" "0" "10906" "0" "c.10906C>T" "r.(?)" "p.(Arg3636*)" "10" "0000237944" "00024113" "95" "10907" "0" "10907" "0" "c.10907G>A" "r.(?)" "p.(Arg3636Gln)" "10" "0000237945" "00024113" "95" "10907" "0" "10907" "0" "c.10907G>A" "r.(?)" "p.(Arg3636Gln)" "10" "0000237946" "00024113" "95" "10907" "0" "10907" "0" "c.10907G>A" "r.(?)" "p.(Arg3636Gln)" "10" "0000237947" "00024113" "95" "10907" "0" "10907" "0" "c.10907G>A" "r.(?)" "p.(Arg3636Gln)" "10" "0000237948" "00024113" "95" "10907" "0" "10907" "0" "c.10907G>A" "r.(?)" "p.(Arg3636Gln)" "10" "0000237949" "00024113" "95" "10934" "0" "10934" "0" "c.10934T>C" "r.(?)" "p.(Leu3645Pro)" "10" "0000237950" "00024113" "95" "10954" "0" "10954" "0" "c.10954C>A" "r.(?)" "p.(Pro3652Thr)" "10" "0000237951" "00024113" "95" "10954" "0" "10954" "0" "c.10954C>A" "r.(?)" "p.(Pro3652Thr)" "10" "0000237952" "00024113" "95" "10954" "0" "10954" "0" "c.10954C>A" "r.(?)" "p.(Pro3652Thr)" "10" "0000237953" "00024113" "95" "10954" "0" "10954" "0" "c.10954C>A" "r.(?)" "p.(Pro3652Thr)" "10" "0000237954" "00024113" "95" "10954" "0" "10954" "0" "c.10954C>A" "r.(?)" "p.(Pro3652Thr)" "10" "0000237955" "00024113" "75" "10958" "0" "10958" "0" "c.10958T>C" "r.(?)" "p.(Phe3653Ser)" "10" "0000237956" "00024113" "95" "11012" "0" "11013" "0" "c.11012_11013del" "r.(?)" "p.(Gln3671Argfs*24)" "10" "0000237957" "00024113" "75" "11104" "0" "11104" "0" "c.11104A>G" "r.(?)" "p.(Thr3702Ala)" "10" "0000237958" "00024113" "75" "11104" "0" "11104" "0" "c.11104A>G" "r.(?)" "p.(Thr3702Ala)" "10" "0000237959" "00024113" "95" "11185" "0" "11185" "0" "c.11185C>T" "r.(?)" "p.(Gln3729*)" "10" "0000237960" "00024113" "95" "11234" "0" "11235" "0" "c.11234_11235del" "r.(?)" "p.(Leu3745Argfs*2)" "10" "0000237961" "00024113" "95" "11265" "0" "11266" "0" "c.11265_11266del" "r.(?)" "p.(Ile3755Metfs*8)" "10" "0000237962" "00024113" "75" "11265" "0" "11266" "0" "c.11265_11266del" "r.(?)" "p.(Ile3755Metfs*8)" "10" "0000237963" "00024113" "95" "11302" "0" "11303" "0" "c.11302_11303insG" "r.(?)" "p.(Arg3769*)" "10" "0000237964" "00024113" "95" "11374" "0" "11374" "0" "c.11374C>T" "r.(?)" "p.(Arg3792*)" "10" "0000237965" "00024113" "95" "11374" "0" "11374" "0" "c.11374C>T" "r.(?)" "p.(Arg3792*)" "10" "0000237966" "00024113" "75" "11542" "0" "11544" "0" "c.11542_11544del" "r.(?)" "p.(Ile3848del)" "10" "0000237967" "00024113" "75" "11542" "0" "11544" "0" "c.11542_11544del" "r.(?)" "p.(Ile3848del)" "10" "0000237968" "00024113" "75" "11598" "0" "11598" "0" "c.11598del" "r.(?)" "p.(Lys3867Asnfs*3)" "10" "0000237969" "00024113" "95" "11598" "0" "11598" "0" "c.11598del" "r.(?)" "p.(Lys3867Asnfs*3)" "10" "0000237970" "00024113" "95" "11598" "0" "11598" "0" "c.11598del" "r.(?)" "p.(Lys3867Asnfs*3)" "10" "0000237971" "00024113" "75" "11624" "0" "11624" "0" "c.11624G>A" "r.(?)" "p.(Arg3875His)" "10" "0000237972" "00024113" "95" "11633" "0" "11633" "0" "c.11633dup" "r.(?)" "p.(Lys3879fs*13)" "10" "0000237973" "00024113" "95" "11637" "0" "11638" "0" "c.11637_11638del" "r.(?)" "p.(Arg3879Serfs*12)" "10" "0000237974" "00024113" "95" "11707" "0" "11707" "0" "c.11707C>T" "r.(?)" "p.(Arg3903*)" "10" "0000237975" "00024113" "95" "11707" "0" "11707" "0" "c.11707C>T" "r.(?)" "p.(Arg3903*)" "10" "0000237976" "00024113" "95" "11707" "0" "11707" "0" "c.11707C>T" "r.(?)" "p.(Arg3903*)" "10" "0000237977" "00024113" "95" "11707" "0" "11707" "0" "c.11707C>T" "r.(?)" "p.(Arg3903*)" "10" "0000237978" "00024113" "95" "11707" "0" "11707" "0" "c.11707C>T" "r.(?)" "p.(Arg3903*)" "10" "0000237979" "00024113" "75" "11777" "0" "11777" "0" "c.11777A>G" "r.(?)" "p.(Asp3926Gly)" "10" "0000237980" "00024113" "35" "11780" "0" "11780" "0" "c.11780C>T" "r.(?)" "p.(Ala3927Val)" "10" "0000237981" "00024113" "95" "11829" "0" "11832" "0" "c.11829_11832del" "r.(?)" "p.(Val3944Ilefs*7)" "10" "0000237982" "00024113" "95" "1185" "0" "1194" "0" "c.1185_1194del" "r.(?)" "p.(Cys395Trpfs*13)" "8" "0000237983" "00024113" "95" "1189" "0" "1189" "0" "c.1189dup" "r.(?)" "p.(S397Kfs*405)" "8" "0000237984" "00024113" "75" "11984" "0" "11986" "0" "c.11984_11986dup" "r.(?)" "p.(Leu3995dup)" "10" "0000237985" "00024113" "75" "11984" "0" "11986" "0" "c.11984_11986dup" "r.(?)" "p.(Leu3995dup)" "10" "0000237986" "00024113" "75" "12020" "0" "12020" "0" "c.12020C>T" "r.(?)" "p.(Ser4007Phe)" "10" "0000237987" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237988" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237989" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237990" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237991" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237992" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237993" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237994" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237995" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237996" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237997" "00024113" "95" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054*)" "10" "0000237998" "00024113" "95" "12220" "0" "12220" "0" "c.12220G>C" "r.(?)" "p.(Ala4074Pro)" "10" "0000237999" "00024113" "75" "12220" "0" "12220" "0" "c.12220G>C" "r.(?)" "p.(Ala4074Pro)" "10" "0000238000" "00024113" "95" "12232" "0" "12232" "0" "c.12232C>T" "r.(?)" "p.(Arg4078*)" "10" "0000238001" "00024113" "95" "1228" "0" "1229" "0" "c.1228_1229del" "r.(?)" "p.(Leu410Serfs*2)" "8" "0000238002" "00024113" "95" "1229" "0" "1229" "0" "c.1229del" "r.(?)" "p.(Leu410*)" "8" "0000238003" "00024113" "95" "1229" "0" "1229" "0" "c.1229del" "r.(?)" "p.(Leu410*)" "8" "0000238004" "00024113" "95" "12428" "0" "12428" "0" "c.12428dup" "r.(?)" "p.(Tyr4143*)" "10" "0000238005" "00024113" "77" "12586" "0" "12586" "0" "c.12586dup" "r.(?)" "p.(Ser4196Phefs*16)" "10" "0000238006" "00024113" "77" "12586" "0" "12586" "0" "c.12586dup" "r.(?)" "p.(Ser4196Phefs*16)" "10" "0000238007" "00024113" "95" "12603" "0" "12603" "0" "c.12603C>A" "r.(?)" "p.(Tyr4201*)" "10" "0000238008" "00024113" "95" "12851" "0" "12854" "0" "c.12851_12854del" "r.(?)" "p.(Glu4284Alafs*23)" "10" "0000238009" "00024113" "95" "12851" "0" "12854" "0" "c.12851_12854del" "r.(?)" "p.(Glu4284Alafs*23)" "10" "0000238010" "00024113" "95" "12851" "0" "12854" "0" "c.12851_12854del" "r.(?)" "p.(Glu4284Alafs*23)" "10" "0000238011" "00024113" "95" "12851" "0" "12854" "0" "c.12851_12854del" "r.(?)" "p.(Glu4284Alafs*23)" "10" "0000238012" "00024113" "95" "12851" "0" "12854" "0" "c.12851_12854del" "r.(?)" "p.(Glu4284Alafs*23)" "10" "0000238013" "00024113" "95" "12973" "0" "12973" "0" "c.12973C>T" "r.(?)" "p.(Arg4325*)" "10" "0000238014" "00024113" "95" "12973" "0" "12973" "0" "c.12973C>T" "r.(?)" "p.(Arg4325*)" "10" "0000238015" "00024113" "95" "12982" "0" "12982" "0" "c.12982del" "r.(?)" "p.(Ile4328Leufs*7)" "10" "0000238016" "00024113" "75" "12991" "0" "12991" "0" "c.12991C>T" "r.(?)" "p.(Arg4331Trp)" "10" "0000238017" "00024113" "95" "12992" "0" "12992" "0" "c.12992G>A" "r.(?)" "p.(Arg4331Gln)" "10" "0000238018" "00024113" "95" "12992" "0" "12992" "0" "c.12992G>A" "r.(?)" "p.(Arg4331Gln)" "10" "0000238019" "00024113" "95" "13027" "0" "13027" "0" "c.13027G>A" "r.(?)" "p.(Glu4343Lys)" "10" "0000238020" "00024113" "95" "13048" "0" "13048" "0" "c.13048G>T" "r.(?)" "p.(Glu4350*)" "10" "0000238021" "00024113" "95" "13048" "0" "13048" "0" "c.13048G>T" "r.(?)" "p.(Glu4350*)" "10" "0000238022" "00024113" "95" "13056" "0" "13056" "0" "c.13056del" "r.(?)" "p.(Phe4352Leufs*11)" "10" "0000238023" "00024113" "95" "13132" "0" "13132" "0" "c.13132C>T" "r.(?)" "p.(Arg4378*)" "10" "0000238024" "00024113" "95" "13237" "0" "13237" "0" "c.13237C>T" "r.(?)" "p.(Gln4413*)" "10" "0000238025" "00024113" "75" "13352" "0" "13352" "0" "c.13352T>C" "r.(?)" "p.(Leu4451Pro)" "10" "0000238026" "00024113" "75" "13352" "0" "13352" "0" "c.13352T>C" "r.(?)" "p.(Leu4451Pro)" "10" "0000238027" "00024113" "75" "13352" "0" "13352" "0" "c.13352T>C" "r.(?)" "p.(Leu4451Pro)" "10" "0000238028" "00024113" "95" "13390" "0" "13390" "0" "c.13390G>T" "r.(?)" "p.(Asp4464Tyr)" "10" "0000238029" "00024113" "95" "13390" "0" "13390" "0" "c.13390G>T" "r.(?)" "p.(Asp4464Tyr)" "10" "0000238030" "00024113" "75" "13405" "0" "13405" "0" "c.13405G>C" "r.(?)" "p.(Ala4469Pro)" "10" "0000238031" "00024113" "77" "13405" "0" "13405" "0" "c.13405G>C" "r.(?)" "p.(Ala4469Pro)" "10" "0000238032" "00024113" "95" "13523" "0" "13523" "0" "c.13523A>C" "r.(?)" "p.(Lys4508Thr)" "10" "0000238033" "00024113" "55" "13538" "0" "13538" "0" "c.13538G>A" "r.(?)" "p.(Ser4513Asn)" "10" "0000238034" "00024113" "95" "13645" "0" "13645" "0" "c.13645A>G" "r.(?)" "p.(Asn4549Asp)" "10" "0000238035" "00024113" "95" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Thr458Ile)" "8" "0000238036" "00024113" "55" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Thr458Ile)" "8" "0000238037" "00024113" "55" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Thr458Ile)" "8" "0000238038" "00024113" "77" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Thr458Ile)" "8" "0000238039" "00024113" "95" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Arg474Cys)" "8" "0000238040" "00024113" "77" "1580" "0" "1580" "0" "c.1580C>G" "r.(?)" "p.(Ser527*)" "8" "0000238041" "00024113" "75" "1607" "0" "1607" "0" "c.1607C>T" "r.(?)" "p.(Pro536Leu)" "8" "0000238042" "00024113" "75" "1607" "0" "1607" "0" "c.1607C>T" "r.(?)" "p.(Pro536Leu)" "8" "0000238043" "00024113" "75" "1647" "0" "1658" "0" "c.1647_1658del" "r.(?)" "p.(Leu549_Leu552del)" "8" "0000238044" "00024113" "95" "1667" "0" "1667" "0" "c.1667T>C" "r.(?)" "p.(Leu556Pro)" "8" "0000238045" "00024113" "75" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632Trp)" "8" "0000238046" "00024113" "95" "2060" "0" "2060" "0" "c.2060del" "r.(?)" "p.(Asp687Valfs*27)" "8" "0000238047" "00024113" "77" "2076" "0" "2076" "0" "c.2076del" "r.(?)" "p.(Ser693Glnfs*21)" "8" "0000238048" "00024113" "77" "2076" "0" "2076" "0" "c.2076del" "r.(?)" "p.(Ser693Glnfs*21)" "8" "0000238049" "00024113" "95" "2094" "-2" "2094" "-2" "c.2094-2A>G" "r.spl" "p.?" "8i" "0000238050" "00024113" "95" "216" "0" "216" "0" "c.216del" "r.(?)" "p.(His73Ilefs*4)" "4" "0000238051" "00024113" "95" "2182" "0" "2182" "0" "c.2182C>T" "r.(?)" "p.(Arg728*)" "9" "0000238052" "00024113" "95" "2182" "0" "2182" "0" "c.2182C>T" "r.(?)" "p.(Arg728*)" "9" "0000238053" "00024113" "99" "2186" "-1" "13741" "0" "c.(2185+1_2186-1)_(*1_?)dup" "r.?" "p.?" "9i_10_" "0000238054" "00024113" "95" "2185" "1" "2185" "1" "c.2185+1del" "r.spl" "p.?" "9i" "0000238055" "00024113" "95" "2185" "7748" "9863" "0" "c.2185+7748_9863del" "r.spl" "p.(Gly729_Trp3278del)" "9i_10_" "0000238056" "00024113" "95" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Arg742*)" "10" "0000238057" "00024113" "95" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Arg742*)" "10" "0000238058" "00024113" "95" "237" "0" "237" "0" "c.237dup" "r.(?)" "p.(Ser80Ilefs*98)" "4" "0000238059" "00024113" "95" "237" "0" "237" "0" "c.237dup" "r.(?)" "p.(Ser80Ilefs*98)" "4" "0000238060" "00024113" "95" "2387" "0" "2387" "0" "c.2387del" "r.(?)" "p.(Leu796Tyrfs*13)" "10" "0000238061" "00024113" "95" "2387" "0" "2387" "0" "c.2387del" "r.(?)" "p.(Leu796Tyrfs*13)" "10" "0000238062" "00024113" "95" "2405" "0" "2405" "0" "c.2405T>C" "r.(?)" "p.(Leu802Pro)" "10" "0000238063" "00024113" "95" "2881" "0" "2881" "0" "c.2881C>T" "r.(?)" "p.(Arg961*)" "10" "0000238064" "00024113" "95" "2938" "0" "2939" "0" "c.2938_2939del" "r.(?)" "p.(Met980Valfs*10)" "10" "0000238065" "00024113" "95" "2938" "0" "2939" "0" "c.2938_2939del" "r.(?)" "p.(Met980Valfs*10)" "10" "0000238066" "00024113" "95" "2971" "0" "2971" "0" "c.2971T>C" "r.(?)" "p.(Cys991Arg)" "10" "0000238067" "00024113" "55" "2983" "0" "2983" "0" "c.2983G>T" "r.(?)" "p.(Val995Phe)" "10" "0000238068" "00024113" "95" "3161" "0" "3161" "0" "c.3161T>C" "r.(?)" "p.(Phe1054Ser)" "10" "0000238069" "00024113" "95" "3198" "0" "3198" "0" "c.3198T>A" "r.(?)" "p.(Cys1066*)" "10" "0000238070" "00024113" "95" "3328" "0" "3328" "0" "c.3328dup" "r.(?)" "p.(Ile1110Asnfs*2)" "10" "0000238071" "00024113" "77" "3352" "0" "3352" "0" "c.3352dup" "r.(?)" "p.(Cys1118Leufs*3)" "10" "0000238072" "00024113" "95" "3420" "0" "3421" "0" "c.3420_3421dup" "r.(?)" "p.(Leu1141Hisfs*10)" "10" "0000238073" "00024113" "95" "3484" "0" "3484" "0" "c.3484G>T" "r.(?)" "p.(Glu1162*)" "10" "0000238074" "00024113" "95" "3484" "0" "3484" "0" "c.3484G>T" "r.(?)" "p.(Glu1162*)" "10" "0000238075" "00024113" "95" "3585" "0" "3585" "0" "c.3585del" "r.(?)" "p.(Ile1195Metfs*13)" "10" "0000238076" "00024113" "95" "3769" "0" "3769" "0" "c.3769G>T" "r.(?)" "p.(Gly1257*)" "10" "0000238077" "00024113" "95" "3769" "0" "3769" "0" "c.3769G>T" "r.(?)" "p.(Gly1257*)" "10" "0000238078" "00024113" "95" "3769" "0" "3769" "0" "c.3769G>T" "r.(?)" "p.(Gly1257*)" "10" "0000238079" "00024113" "95" "3932" "0" "3932" "0" "c.3932T>A" "r.(?)" "p.(Met1311Lys)" "10" "0000238080" "00024113" "77" "3932" "0" "3932" "0" "c.3932T>A" "r.(?)" "p.(Met1311Lys)" "10" "0000238081" "00024113" "77" "3965" "0" "3966" "0" "c.3965_3966del" "r.(?)" "p.(Gly1322Valfs*22)" "10" "0000238082" "00024113" "77" "3965" "0" "3966" "0" "c.3965_3966del" "r.(?)" "p.(Gly1322Valfs*22)" "10" "0000238083" "00024113" "35" "3990" "0" "3990" "0" "c.3990T>R" "r.?" "p.Asp1330Glu" "10" "0000238084" "00024113" "95" "4033" "0" "4034" "0" "c.4033_4034dup" "r.(?)" "p.(Gln1345Hisfs*17)" "10" "0000238085" "00024113" "95" "4033" "0" "4033" "0" "c.4033C>T" "r.(?)" "p.(Gln1345*)" "10" "0000238086" "00024113" "95" "4060" "0" "4060" "0" "c.4060C>T" "r.(?)" "p.(Gln1354*)" "10" "0000238087" "00024113" "55" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Met1359Thr)" "10" "0000238088" "00024113" "55" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Met1359Thr)" "10" "0000238089" "00024113" "95" "4108" "0" "4108" "0" "c.4108C>T" "r.(?)" "p.(Gln1370*)" "10" "0000238090" "00024113" "95" "4108" "0" "4108" "0" "c.4108C>T" "r.(?)" "p.(Gln1370*)" "10" "0000238091" "00024113" "95" "4108" "0" "4108" "0" "c.4108C>T" "r.(?)" "p.(Gln1370*)" "10" "0000238092" "00024113" "95" "4108" "0" "4108" "0" "c.4108C>T" "r.(?)" "p.(Gln1370*)" "10" "0000238093" "00024113" "95" "4145" "0" "4145" "0" "c.4145dup" "r.(?)" "p.(His1382Glnfs*3)" "10" "0000238094" "00024113" "95" "414" "0" "414" "0" "c.414C>G" "r.(?)" "p.(Tyr138*)" "6" "0000238095" "00024113" "95" "414" "0" "414" "0" "c.414C>G" "r.(?)" "p.(Tyr138*)" "6" "0000238096" "00024113" "95" "4192" "0" "4192" "0" "c.4192T>C" "r.(?)" "p.(Cys1398Arg)" "10" "0000238097" "00024113" "75" "4198" "0" "4198" "0" "c.4198T>A" "r.(?)" "p.(Tyr1400Asn)" "10" "0000238098" "00024113" "75" "4198" "0" "4198" "0" "c.4198T>A" "r.(?)" "p.(Tyr1400Asn)" "10" "0000238099" "00024113" "95" "4198" "0" "4198" "0" "c.4198T>A" "r.(?)" "p.(Tyr1400Asn)" "10" "0000238100" "00024113" "95" "4205" "0" "4205" "0" "c.4205A>T" "r.(?)" "p.(Asp1402Val)" "10" "0000238101" "00024113" "95" "4567" "0" "4567" "0" "c.4567T>C" "r.(?)" "p.(Trp1523Arg)" "10" "0000238102" "00024113" "95" "4593" "0" "4593" "0" "c.4593dup" "r.(?)" "p.(Asp1532Argfs*9)" "10" "0000238103" "00024113" "95" "4724" "0" "4724" "0" "c.4724G>C" "r.(?)" "p.(Arg1575Pro)" "10" "0000238104" "00024113" "95" "4744" "0" "4744" "0" "c.4744G>A" "r.(?)" "p.(Asp1582Asn)" "10" "0000238105" "00024113" "95" "4744" "0" "4744" "0" "c.4744G>A" "r.(?)" "p.(Asp1582Asn)" "10" "0000238106" "00024113" "95" "4744" "0" "4744" "0" "c.4744G>A" "r.(?)" "p.(Asp1582Asn)" "10" "0000238107" "00024113" "95" "4744" "0" "4744" "0" "c.4744G>A" "r.(?)" "p.(Asp1582Asn)" "10" "0000238108" "00024113" "95" "4744" "0" "4744" "0" "c.4744G>A" "r.(?)" "p.(Asp1582Asn)" "10" "0000238109" "00024113" "95" "4748" "0" "4748" "0" "c.4748C>G" "r.(?)" "p.(Pro1583Arg)" "10" "0000238110" "00024113" "95" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(His1587Arg)" "10" "0000238111" "00024113" "95" "4775" "0" "4776" "0" "c.4775_4776insA" "r.(?)" "p.(Lys1593*)" "10" "0000238112" "00024113" "95" "482" "0" "482" "0" "c.482del" "r.(?)" "p.(Asn161Thrfs*15)" "7" "0000238113" "00024113" "95" "482" "0" "482" "0" "c.482del" "r.(?)" "p.(Asn161Thrfs*15)" "7" "0000238114" "00024113" "95" "4882" "0" "4886" "0" "c.4882_4886delinsAGAAGC" "r.(?)" "p.(Gln1628Argfs*13)" "10" "0000238115" "00024113" "95" "4934" "0" "4934" "0" "c.4934G>A" "r.(?)" "p.(Arg1645Gln)" "10" "0000238116" "00024113" "95" "4954" "0" "4954" "0" "c.4954C>T" "r.(?)" "p.(Gln1652*)" "10" "0000238117" "00024113" "95" "4957" "0" "4957" "0" "c.4957G>T" "r.(?)" "p.(Glu1653*)" "10" "0000238118" "00024113" "95" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.(Asp168Tyr)" "7" "0000238119" "00024113" "95" "5125" "0" "5125" "0" "c.5125C>T" "r.(?)" "p.(Gln1709*)" "10" "0000238120" "00024113" "95" "5125" "0" "5125" "0" "c.5125C>T" "r.(?)" "p.(Gln1709*)" "10" "0000238121" "00024113" "95" "5143" "0" "5143" "0" "c.5143A>T" "r.(?)" "p.(Lys1715*)" "10" "0000238122" "00024113" "75" "5151" "0" "5151" "0" "c.5151dup" "r.(?)" "p.(Ser1718Ilefs*20)" "10" "0000238123" "00024113" "95" "5201" "0" "5202" "0" "c.5201_5202del" "r.(?)" "p.(Glu1734Glyfs*3)" "10" "0000238124" "00024113" "95" "5263" "0" "5264" "0" "c.5263_5264del" "r.(?)" "p.(Lys1755Valfs*21)" "10" "0000238125" "00024113" "95" "5263" "0" "5264" "0" "c.5263_5264del" "r.(?)" "p.(Lys1755Valfs*21)" "10" "0000238126" "00024113" "95" "5544" "0" "5544" "0" "c.5544dup" "r.(?)" "p.(Val1849Serfs*48)" "10" "0000238127" "00024113" "95" "5629" "0" "5629" "0" "c.5629C>T" "r.(?)" "p.(Arg1877*)" "10" "0000238128" "00024113" "95" "5639" "0" "5639" "0" "c.5639C>T" "r.(?)" "p.(Thr1880Ile)" "10" "0000238129" "00024113" "75" "5719" "0" "5719" "0" "c.5719C>T" "r.(?)" "p.(Arg1907*)" "10" "0000238130" "00024113" "75" "5719" "0" "5719" "0" "c.5719C>T" "r.(?)" "p.(Arg1907*)" "10" "0000238131" "00024113" "95" "5719" "0" "5719" "0" "c.5719C>T" "r.(?)" "p.(Arg1907*)" "10" "0000238132" "00024113" "95" "5719" "0" "5719" "0" "c.5719C>T" "r.(?)" "p.(Arg1907*)" "10" "0000238133" "00024113" "95" "5719" "0" "5719" "0" "c.5719C>T" "r.(?)" "p.(Arg1907*)" "10" "0000238134" "00024113" "95" "5836" "0" "5836" "0" "c.5836T>C" "r.(?)" "p.(Trp1946Arg)" "10" "0000238135" "00024113" "95" "5836" "0" "5836" "0" "c.5836T>C" "r.(?)" "p.(Trp1946Arg)" "10" "0000238136" "00024113" "95" "5836" "0" "5836" "0" "c.5836T>C" "r.(?)" "p.(Trp1946Arg)" "10" "0000238137" "00024113" "95" "5836" "0" "5836" "0" "c.5836T>C" "r.(?)" "p.(Trp1946Arg)" "10" "0000238138" "00024113" "95" "5836" "0" "5836" "0" "c.5836T>C" "r.(?)" "p.(Trp1946Arg)" "10" "0000238139" "00024113" "95" "5836" "0" "5836" "0" "c.5836T>C" "r.(?)" "p.(Trp1946Arg)" "10" "0000238140" "00024113" "75" "5840" "0" "5840" "0" "c.5840C>G" "r.(?)" "p.(Pro1947Arg)" "10" "0000238141" "00024113" "75" "5840" "0" "5840" "0" "c.5840C>G" "r.(?)" "p.(Pro1947Arg)" "10" "0000238142" "00024113" "75" "5948" "0" "5948" "0" "c.5948C>T" "r.(?)" "p.(Ser1983Phe)" "10" "0000238143" "00024113" "95" "5990" "0" "5991" "0" "c.5990_5991del" "r.(?)" "p.(Ser1997Tyrfs*3)" "10" "0000238144" "00024113" "95" "600" "0" "604" "1" "c.600_604+1del" "r.spl" "p.Thr201Cysfs*6" "7_7i" "0000238145" "00024113" "95" "602" "0" "602" "0" "c.602C>A" "r.(?)" "p.(Thr201Lys)" "7" "0000238146" "00024113" "95" "6093" "0" "6095" "0" "c.6093_6095del" "r.(?)" "p.(Ser2032del)" "10" "0000238147" "00024113" "95" "6171" "0" "6172" "0" "c.6171_6172del" "r.(?)" "p.(Ser2058*)" "10" "0000238148" "00024113" "95" "6172" "0" "6172" "0" "c.6172del" "r.(?)" "p.(Ser2058Leufs*19)" "10" "0000238149" "00024113" "95" "6290" "0" "6290" "0" "c.6290del" "r.(?)" "p.(Cys2097Leufs*17)" "10" "0000238150" "00024113" "95" "6355" "0" "6355" "0" "c.6355C>T" "r.(?)" "p.(Arg2119*)" "10" "0000238151" "00024113" "95" "6355" "0" "6355" "0" "c.6355C>T" "r.(?)" "p.(Arg2119*)" "10" "0000238152" "00024113" "95" "6355" "0" "6355" "0" "c.6355C>T" "r.(?)" "p.(Arg2119*)" "10" "0000238153" "00024113" "95" "6355" "0" "6355" "0" "c.6355C>T" "r.(?)" "p.(Arg2119*)" "10" "0000238154" "00024113" "75" "6392" "0" "6392" "0" "c.6392del" "r.(?)" "p.(Phe2131Serfs*15)" "10" "0000238155" "00024113" "95" "6409" "0" "6409" "0" "c.6409C>T" "r.(?)" "p.(Gln2137*)" "10" "0000238156" "00024113" "95" "6434" "0" "6434" "0" "c.6434T>A" "r.(?)" "p.(Leu2145*)" "10" "0000238157" "00024113" "95" "6434" "0" "6434" "0" "c.6434T>A" "r.(?)" "p.(Leu2145*)" "10" "0000238158" "00024113" "95" "6663" "0" "6663" "0" "c.6663del" "r.(?)" "p.(Lys2221Asnfs*33)" "10" "0000238159" "00024113" "77" "6781" "0" "6781" "0" "c.6781C>A" "r.(?)" "p.(Leu2261Ile)" "10" "0000238160" "00024113" "95" "6837" "0" "6837" "0" "c.6837dup" "r.(?)" "p.(Glu2280Argfs*12)" "10" "0000238161" "00024113" "95" "6837" "0" "6837" "0" "c.6837dup" "r.(?)" "p.(Glu2280Argfs*12)" "10" "0000238162" "00024113" "75" "6890" "0" "6890" "0" "c.6890T>G" "r.(?)" "p.(Leu2297Trp)" "10" "0000238163" "00024113" "75" "6890" "0" "6890" "0" "c.6890T>G" "r.(?)" "p.(Leu2297Trp)" "10" "0000238164" "00024113" "75" "6890" "0" "6890" "0" "c.6890T>G" "r.(?)" "p.(Leu2297Trp)" "10" "0000238165" "00024113" "75" "7121" "0" "7121" "0" "c.7121T>C" "r.(?)" "p.(Leu2374Ser)" "10" "0000238166" "00024113" "77" "7140" "0" "7140" "0" "c.7140T>A" "r.(?)" "p.(Asn2380Lys)" "10" "0000238167" "00024113" "95" "7250" "0" "7254" "0" "c.7250_7254del" "r.(?)" "p.(Thr2417Argfs*12)" "10" "0000238168" "00024113" "95" "7255" "0" "7259" "0" "c.7255_7259del" "r.(?)" "p.(Glu2419Phefs*10)" "10" "0000238169" "00024113" "95" "7276" "0" "7276" "0" "c.7276C>T" "r.(?)" "p.(Arg2426*)" "10" "0000238170" "00024113" "75" "7277" "0" "7277" "0" "c.7277G>C" "r.(?)" "p.(Arg2426Pro)" "10" "0000238171" "00024113" "95" "7372" "0" "7376" "0" "c.7372_7376del" "r.(?)" "p.(Leu2458Alafs*5)" "10" "0000238172" "00024113" "95" "7374" "0" "7374" "0" "c.7374del" "r.(?)" "p.(Met2459Cysfs*16)" "10" "0000238173" "00024113" "55" "7489" "0" "7489" "0" "c.7489G>A" "r.(?)" "p.(Gly2497Arg)" "10" "0000238174" "00024113" "55" "7489" "0" "7489" "0" "c.7489G>A" "r.(?)" "p.(Gly2497Arg)" "10" "0000238175" "00024113" "95" "7504" "0" "7504" "0" "c.7504C>T" "r.(?)" "p.(Arg2502*)" "10" "0000238176" "00024113" "95" "7673" "0" "7673" "0" "c.7673C>T" "r.(?)" "p.(Ala2558Val)" "10" "0000238177" "00024113" "75" "7673" "0" "7673" "0" "c.7673C>T" "r.(?)" "p.(Ala2558Val)" "10" "0000238178" "00024113" "75" "7673" "0" "7673" "0" "c.7673C>T" "r.(?)" "p.(Ala2558Val)" "10" "0000238179" "00024113" "95" "8107" "0" "8107" "0" "c.8107C>T" "r.(?)" "p.(Arg2703Cys)" "10" "0000238180" "00024113" "75" "8107" "0" "8107" "0" "c.8107C>T" "r.(?)" "p.(Arg2703Cys)" "10" "0000238181" "00024113" "75" "8107" "0" "8107" "0" "c.8107C>T" "r.(?)" "p.(Arg2703Cys)" "10" "0000238182" "00024113" "95" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "0000238183" "00024113" "95" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "0000238184" "00024113" "95" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "0000238185" "00024113" "95" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "0000238186" "00024113" "95" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "0000238187" "00024113" "95" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "0000238188" "00024113" "95" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "0000238189" "00024113" "95" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "0000238190" "00024113" "95" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "0000238191" "00024113" "95" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "8" "0000238192" "00024113" "95" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272His)" "8" "0000238193" "00024113" "75" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Cys)" "8" "0000238194" "00024113" "75" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Cys)" "8" "0000238195" "00024113" "95" "8289" "0" "8291" "0" "c.8289_8291del" "r.(?)" "p.(Tyr2763*)" "10" "0000238196" "00024113" "95" "8289" "0" "8291" "0" "c.8289_8291del" "r.(?)" "p.(Tyr2763*)" "10" "0000238197" "00024113" "95" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Gln278*)" "8" "0000238198" "00024113" "95" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Gln278*)" "8" "0000238199" "00024113" "95" "8393" "0" "8393" "0" "c.8393C>A" "r.(?)" "p.(Pro2798Gln)" "10" "0000238200" "00024113" "95" "8401" "0" "8403" "0" "c.8401_8403del" "r.(?)" "p.(Gln2801del)" "10" "0000238201" "00024113" "95" "8401" "0" "8403" "0" "c.8401_8403del" "r.(?)" "p.(Gln2801del)" "10" "0000238202" "00024113" "95" "8584" "0" "8584" "0" "c.8584A>T" "r.(?)" "p.(Lys2862*)" "10" "0000238203" "00024113" "95" "8584" "0" "8584" "0" "c.8584A>T" "r.(?)" "p.(Lys2862*)" "10" "0000238204" "00024113" "95" "8677" "0" "8677" "0" "c.8677A>T" "r.(?)" "p.(Arg2893*)" "10" "0000238205" "00024113" "95" "8740" "0" "8740" "0" "c.8740del" "r.(?)" "p.(Met2914*)" "10" "0000238206" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238207" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238208" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238209" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238210" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238211" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238212" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238213" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238214" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238215" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238216" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238217" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238218" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238219" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238220" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238221" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238222" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238223" "00024113" "95" "8844" "0" "8844" "0" "c.8844del" "r.(?)" "p.(Ile2949Phefs*4)" "10" "0000238224" "00024113" "95" "8920" "0" "8923" "0" "c.8920_8923dup" "r.(?)" "p.(Tyr2975Phefs*29)" "10" "0000238225" "00024113" "95" "9086" "0" "9086" "0" "c.9086del" "r.(?)" "p.(Asn3029Ilefs*23)" "10" "0000238226" "00024113" "95" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Leu308Phe)" "8" "0000238227" "00024113" "95" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Leu308Phe)" "8" "0000238228" "00024113" "95" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Leu308Phe)" "8" "0000238229" "00024113" "95" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Leu308Phe)" "8" "0000238230" "00024113" "75" "9284" "0" "9284" "0" "c.9284dup" "r.(?)" "p.(Ala3096Cysfs*2)" "10" "0000238231" "00024113" "95" "9305" "0" "9305" "0" "c.9305dup" "r.(?)" "p.(Leu3102Phefs*8)" "10" "0000238232" "00024113" "95" "9305" "0" "9305" "0" "c.9305dup" "r.(?)" "p.(Leu3102Phefs*8)" "10" "0000238233" "00024113" "95" "9497" "0" "9498" "0" "c.9497_9498del" "r.(?)" "p.(Phe3166*)" "10" "0000238234" "00024113" "95" "9508" "0" "9508" "0" "c.9508C>T" "r.(?)" "p.(Arg3170*)" "10" "0000238235" "00024113" "95" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Arg321*)" "8" "0000238236" "00024113" "95" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Arg321*)" "8" "0000238237" "00024113" "95" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Arg321*)" "8" "0000238238" "00024113" "95" "9670" "0" "9670" "0" "c.9670C>T" "r.(?)" "p.(Arg3224*)" "10" "0000238239" "00024113" "95" "9670" "0" "9670" "0" "c.9670C>T" "r.(?)" "p.(Arg3224*)" "10" "0000238240" "00024113" "95" "9742" "0" "9742" "0" "c.9742T>C" "r.(?)" "p.(Trp3248Arg)" "10" "0000238241" "00024113" "95" "9742" "0" "9742" "0" "c.9742T>C" "r.(?)" "p.(Trp3248Arg)" "10" "0000238242" "00024113" "79" "9805" "0" "9805" "0" "c.9805G>A" "r.(?)" "p.(Asp3269Asn)" "10" "0000244172" "00024113" "90" "4466" "0" "4466" "0" "c.4466A>G" "r.(?)" "p.(Asn1489Ser)" "" "0000244173" "00024113" "90" "2182" "0" "2182" "0" "c.2182C>T" "r.(?)" "p.(Arg728*)" "" "0000247194" "00024113" "10" "19351" "0" "19351" "0" "c.*5611T>C" "r.(=)" "p.(=)" "" "0000247998" "00024113" "10" "696" "0" "696" "0" "c.696T>A" "r.(?)" "p.(Asn232Lys)" "" "0000248409" "00024113" "10" "19351" "0" "19351" "0" "c.*5611T>C" "r.(=)" "p.(=)" "" "0000249394" "00024113" "30" "12813" "0" "12813" "0" "c.12813T>G" "r.(?)" "p.(Pro4271=)" "" "0000251861" "00024113" "30" "3752" "0" "3752" "0" "c.3752T>C" "r.(?)" "p.(Ile1251Thr)" "" "0000252751" "00024113" "50" "7926" "0" "7926" "0" "c.7926T>A" "r.(?)" "p.(Asn2642Lys)" "" "0000253259" "00024113" "10" "696" "0" "696" "0" "c.696T>A" "r.(?)" "p.(Asn232Lys)" "" "0000253469" "00024113" "10" "12304" "0" "12304" "0" "c.12304T>C" "r.(?)" "p.(Leu4102=)" "" "0000253470" "00024113" "10" "9981" "0" "9981" "0" "c.9981T>C" "r.(?)" "p.(Ala3327=)" "" "0000253471" "00024113" "10" "8853" "0" "8853" "0" "c.8853T>C" "r.(?)" "p.(Val2951=)" "" "0000253472" "00024113" "10" "6195" "0" "6195" "0" "c.6195T>C" "r.(?)" "p.(Ile2065=)" "" "0000253715" "00024113" "10" "10106" "0" "10106" "0" "c.10106T>C" "r.(?)" "p.(Val3369Ala)" "" "0000254246" "00024113" "30" "10305" "0" "10305" "0" "c.10305T>C" "r.(?)" "p.(Ser3435=)" "" "0000254247" "00024113" "30" "5307" "0" "5307" "0" "c.5307T>C" "r.(?)" "p.(His1769=)" "" "0000254649" "00024113" "30" "3637" "0" "3637" "0" "c.3637T>C" "r.(?)" "p.(Leu1213=)" "" "0000254715" "00024113" "30" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Met1359Thr)" "" "0000295794" "00024113" "30" "19325" "0" "19325" "0" "c.*5585C>T" "r.(=)" "p.(=)" "" "0000295795" "00024113" "10" "19322" "0" "19322" "0" "c.*5582G>A" "r.(=)" "p.(=)" "" "0000295801" "00024113" "10" "19506" "0" "19506" "0" "c.*5766A>G" "r.(=)" "p.(=)" "" "0000297881" "00024113" "10" "10338" "0" "10338" "0" "c.10338G>A" "r.(?)" "p.(Gln3446=)" "" "0000297882" "00024113" "50" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Thr458Ile)" "" "0000297883" "00024113" "10" "1656" "0" "1656" "0" "c.1656A>G" "r.(?)" "p.(Leu552=)" "" "0000297884" "00024113" "50" "2785" "0" "2785" "0" "c.2785C>T" "r.(?)" "p.(Arg929Cys)" "" "0000297885" "00024113" "30" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Leu977=)" "" "0000297886" "00024113" "30" "3129" "0" "3129" "0" "c.3129A>G" "r.(?)" "p.(Ser1043=)" "" "0000297887" "00024113" "90" "4756" "0" "4760" "0" "c.4756_4760del" "r.(?)" "p.(Asn1586TyrfsTer3)" "" "0000297888" "00024113" "90" "6000" "0" "6004" "0" "c.6000_6004del" "r.(?)" "p.(Arg2002CysfsTer25)" "" "0000299329" "00024113" "90" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054Ter)" "" "0000301632" "00024113" "50" "1762" "0" "1762" "0" "c.1762A>G" "r.(?)" "p.(Lys588Glu)" "" "0000301633" "00024113" "10" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Ala694Thr)" "" "0000301634" "00024113" "30" "6781" "0" "6781" "0" "c.6781C>A" "r.(?)" "p.(Leu2261Ile)" "" "0000307596" "00024113" "10" "-13" "0" "-13" "0" "c.-13A>G" "r.(?)" "p.(=)" "" "0000307597" "00024113" "10" "10338" "0" "10338" "0" "c.10338G>A" "r.(?)" "p.(Gln3446=)" "" "0000307598" "00024113" "30" "10443" "0" "10443" "0" "c.10443C>G" "r.(?)" "p.(Leu3481=)" "" "0000307599" "00024113" "10" "10896" "0" "10896" "0" "c.10896A>G" "r.(?)" "p.(Ile3632Met)" "" "0000307600" "00024113" "10" "12649" "0" "12649" "0" "c.12649A>G" "r.(?)" "p.(Asn4217Asp)" "" "0000307601" "00024113" "30" "1273" "0" "1273" "0" "c.1273C>A" "r.(?)" "p.(Pro425Thr)" "" "0000307602" "00024113" "10" "12762" "0" "12762" "0" "c.12762C>T" "r.(?)" "p.(Ser4254=)" "" "0000307603" "00024113" "50" "12990" "0" "12990" "0" "c.12990del" "r.(?)" "p.(Arg4330SerfsTer5)" "" "0000307604" "00024113" "50" "13717" "0" "13717" "0" "c.13717A>C" "r.(?)" "p.(Asn4573His)" "" "0000307605" "00024113" "50" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Thr458Ile)" "" "0000307606" "00024113" "30" "1593" "0" "1593" "0" "c.1593C>T" "r.(?)" "p.(Ile531=)" "" "0000307607" "00024113" "10" "1656" "0" "1656" "0" "c.1656A>G" "r.(?)" "p.(Leu552=)" "" "0000307608" "00024113" "30" "171" "13" "171" "13" "c.171+13C>T" "r.(=)" "p.(=)" "" "0000307609" "00024113" "10" "171" "6" "171" "6" "c.171+6C>T" "r.(=)" "p.(=)" "" "0000307610" "00024113" "10" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Ala694Thr)" "" "0000307611" "00024113" "30" "21" "-15" "21" "-15" "c.21-15C>T" "r.(=)" "p.(=)" "" "0000307612" "00024113" "50" "2234" "0" "2234" "0" "c.2234G>A" "r.(?)" "p.(Arg745His)" "" "0000307613" "00024113" "30" "2580" "0" "2580" "0" "c.2580A>G" "r.(?)" "p.(Gln860=)" "" "0000307614" "00024113" "30" "3129" "0" "3129" "0" "c.3129A>G" "r.(?)" "p.(Ser1043=)" "" "0000307615" "00024113" "30" "3551" "0" "3551" "0" "c.3551C>G" "r.(?)" "p.(Pro1184Arg)" "" "0000307616" "00024113" "30" "3917" "0" "3917" "0" "c.3917A>G" "r.(?)" "p.(Asn1306Ser)" "" "0000307617" "00024113" "10" "4188" "0" "4188" "0" "c.4188C>T" "r.(?)" "p.(His1396=)" "" "0000307618" "00024113" "70" "423" "0" "424" "0" "c.423_424del" "r.(?)" "p.(Glu141AspfsTer42)" "" "0000307619" "00024113" "50" "432" "0" "432" "0" "c.432G>T" "r.(?)" "p.(Trp144Cys)" "" "0000307620" "00024113" "30" "4466" "0" "4466" "0" "c.4466A>G" "r.(?)" "p.(Asn1489Ser)" "" "0000307621" "00024113" "50" "4757" "0" "4757" "0" "c.4757A>G" "r.(?)" "p.(Asn1586Ser)" "" "0000307622" "00024113" "30" "4985" "0" "4985" "0" "c.4985C>T" "r.(?)" "p.(Thr1662Met)" "" "0000307623" "00024113" "50" "5864" "0" "5864" "0" "c.5864A>G" "r.(?)" "p.(Asp1955Gly)" "" "0000307624" "00024113" "50" "5939" "0" "5939" "0" "c.5939C>T" "r.(?)" "p.(Ser1980Phe)" "" "0000307625" "00024113" "50" "6062" "0" "6062" "0" "c.6062C>T" "r.(?)" "p.(Ser2021Phe)" "" "0000307626" "00024113" "10" "6267" "0" "6267" "0" "c.6267G>A" "r.(?)" "p.(Ser2089=)" "" "0000307627" "00024113" "50" "6577" "0" "6577" "0" "c.6577G>A" "r.(?)" "p.(Asp2193Asn)" "" "0000307628" "00024113" "10" "6781" "0" "6781" "0" "c.6781C>A" "r.(?)" "p.(Leu2261Ile)" "" "0000307629" "00024113" "50" "6952" "0" "6952" "0" "c.6952G>A" "r.(?)" "p.(Ala2318Thr)" "" "0000307630" "00024113" "30" "7149" "0" "7149" "0" "c.7149C>T" "r.(?)" "p.(Arg2383=)" "" "0000307631" "00024113" "50" "7282" "0" "7282" "0" "c.7282A>G" "r.(?)" "p.(Ile2428Val)" "" "0000307632" "00024113" "50" "7424" "0" "7424" "0" "c.7424A>G" "r.(?)" "p.(Lys2475Arg)" "" "0000307633" "00024113" "30" "744" "0" "744" "0" "c.744A>C" "r.(?)" "p.(Ala248=)" "" "0000307634" "00024113" "30" "7725" "0" "7725" "0" "c.7725A>T" "r.(?)" "p.(Ile2575=)" "" "0000307635" "00024113" "30" "8127" "0" "8127" "0" "c.8127A>C" "r.(?)" "p.(Lys2709Asn)" "" "0000307636" "00024113" "10" "8344" "0" "8344" "0" "c.8344G>A" "r.(?)" "p.(Ala2782Thr)" "" "0000307637" "00024113" "10" "8345" "0" "8345" "0" "c.8345C>T" "r.(?)" "p.(Ala2782Val)" "" "0000307638" "00024113" "50" "8593" "0" "8593" "0" "c.8593C>T" "r.(?)" "p.(His2865Tyr)" "" "0000307639" "00024113" "10" "909" "0" "909" "0" "c.909A>G" "r.(?)" "p.(Ala303=)" "" "0000307640" "00024113" "30" "9846" "0" "9846" "0" "c.9846A>G" "r.(?)" "p.(Pro3282=)" "" "0000337583" "00024113" "90" "457" "1" "457" "1" "c.457+1G>A" "r.spl?" "p.?" "" "0000337584" "00024113" "10" "171" "6" "171" "6" "c.171+6C>T" "r.(=)" "p.(=)" "" "0000337586" "00024113" "10" "-13" "0" "-13" "0" "c.-13A>G" "r.(?)" "p.(=)" "" "0000339740" "00024113" "10" "12762" "0" "12762" "0" "c.12762C>T" "r.(?)" "p.(Ser4254=)" "" "0000339741" "00024113" "10" "10305" "0" "10305" "0" "c.10305T>C" "r.(?)" "p.(Ser3435=)" "" "0000339742" "00024113" "30" "6069" "0" "6069" "0" "c.6069C>T" "r.(?)" "p.(Asn2023=)" "" "0000339743" "00024113" "30" "5502" "0" "5502" "0" "c.5502G>C" "r.(?)" "p.(Leu1834=)" "" "0000340640" "00024113" "10" "909" "0" "909" "0" "c.909A>G" "r.(?)" "p.(Ala303=)" "" "0000340642" "00024113" "10" "9981" "0" "9981" "0" "c.9981T>C" "r.(?)" "p.(Ala3327=)" "" "0000340747" "00024113" "10" "10338" "0" "10338" "0" "c.10338G>A" "r.(?)" "p.(Gln3446=)" "" "0000340752" "00024113" "10" "1839" "0" "1839" "0" "c.1839G>A" "r.(?)" "p.(Gln613=)" "" "0000340801" "00024113" "10" "4188" "0" "4188" "0" "c.4188C>T" "r.(?)" "p.(His1396=)" "" "0000340822" "00024113" "10" "6195" "0" "6195" "0" "c.6195T>C" "r.(?)" "p.(Ile2065=)" "" "0000340861" "00024113" "10" "1656" "0" "1656" "0" "c.1656A>G" "r.(?)" "p.(Leu552=)" "" "0000340954" "00024113" "10" "6267" "0" "6267" "0" "c.6267G>A" "r.(?)" "p.(Ser2089=)" "" "0000341054" "00024113" "10" "8853" "0" "8853" "0" "c.8853T>C" "r.(?)" "p.(Val2951=)" "" "0000341559" "00024113" "10" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Ala694Thr)" "" "0000342548" "00024113" "50" "8717" "0" "8717" "0" "c.8717G>A" "r.(?)" "p.(Arg2906Gln)" "" "0000342786" "00024113" "50" "11624" "0" "11624" "0" "c.11624G>A" "r.(?)" "p.(Arg3875His)" "" "0000342898" "00024113" "90" "13132" "0" "13132" "0" "c.13132C>T" "r.(?)" "p.(Arg4378Ter)" "" "0000343312" "00024113" "90" "2182" "0" "2182" "0" "c.2182C>T" "r.(?)" "p.(Arg728Ter)" "" "0000343660" "00024113" "10" "696" "0" "696" "0" "c.696T>A" "r.(?)" "p.(Asn232Lys)" "" "0000344533" "00024113" "90" "3901" "0" "3901" "0" "c.3901C>T" "r.(?)" "p.(Gln1301Ter)" "" "0000344599" "00024113" "90" "5125" "0" "5125" "0" "c.5125C>T" "r.(?)" "p.(Gln1709Ter)" "" "0000344823" "00024113" "90" "12028" "0" "12028" "0" "c.12028C>T" "r.(?)" "p.(Gln4010Ter)" "" "0000345170" "00024113" "90" "4957" "0" "4957" "0" "c.4957G>T" "r.(?)" "p.(Glu1653Ter)" "" "0000346068" "00024113" "50" "12688" "0" "12688" "0" "c.12688G>A" "r.(?)" "p.(Gly4230Ser)" "" "0000346576" "00024113" "90" "4183" "0" "4183" "0" "c.4183del" "r.(?)" "p.(Ile1395PhefsTer34)" "" "0000346703" "00024113" "10" "10896" "0" "10896" "0" "c.10896A>G" "r.(?)" "p.(Ile3632Met)" "" "0000346834" "00024113" "50" "2996" "0" "2996" "0" "c.2996T>C" "r.(?)" "p.(Ile999Thr)" "" "0000346866" "00024113" "10" "3637" "0" "3637" "0" "c.3637T>C" "r.(?)" "p.(Leu1213=)" "" "0000346892" "00024113" "90" "4232" "0" "4232" "0" "c.4232T>G" "r.(?)" "p.(Leu1411Ter)" "" "0000347161" "00024113" "50" "12661" "0" "12661" "0" "c.12661C>G" "r.(?)" "p.(Leu4221Val)" "" "0000348974" "00024113" "90" "11675" "0" "11675" "0" "c.11675C>G" "r.(?)" "p.(Ser3892Ter)" "" "0000349674" "00024113" "50" "3466" "0" "3466" "0" "c.3466T>C" "r.(?)" "p.(Trp1156Arg)" "" "0000350098" "00024113" "90" "13176" "0" "13176" "0" "c.13176C>G" "r.(?)" "p.(Tyr4392Ter)" "" "0000350489" "00024113" "10" "10106" "0" "10106" "0" "c.10106T>C" "r.(?)" "p.(Val3369Ala)" "" "0000351063" "00024113" "10" "10443" "0" "10443" "0" "c.10443C>G" "r.(?)" "p.(Leu3481=)" "" "0000351064" "00024113" "50" "8978" "0" "8978" "0" "c.8978T>C" "r.(?)" "p.(Leu2993Ser)" "" "0000351065" "00024113" "90" "171" "1" "171" "1" "c.171+1G>A" "r.spl?" "p.?" "" "0000356923" "00024113" "90" "6290" "0" "6290" "0" "c.6290del" "r.(?)" "p.(Cys2097Leufs*17)" "10" "0000356924" "00024113" "90" "12542" "0" "12542" "0" "c.12542A>G" "r.(?)" "p.(Tyr4181Cys)" "10" "0000357988" "00024113" "00" "5794" "0" "5794" "0" "c.5794G>A" "r.(?)" "p.(Ala1932Thr)" "" "0000456094" "00024113" "90" "4911" "0" "4911" "0" "c.4911C>A" "r.(?)" "p.(Tyr1637*)" "" "0000549972" "00024113" "10" "19526" "0" "19526" "0" "c.*5786A>G" "r.(=)" "p.(=)" "" "0000549973" "00024113" "50" "13711" "0" "13711" "0" "c.13711C>T" "r.(?)" "p.(Leu4571Phe)" "" "0000549974" "00024113" "30" "13374" "0" "13374" "0" "c.13374C>T" "r.(?)" "p.(Phe4458=)" "" "0000549975" "00024113" "90" "13176" "0" "13176" "0" "c.13176C>G" "r.(?)" "p.(Tyr4392Ter)" "" "0000549976" "00024113" "90" "13101" "0" "13101" "0" "c.13101del" "r.(?)" "p.(Leu4368Ter)" "" "0000549977" "00024113" "50" "13027" "0" "13027" "0" "c.13027G>A" "r.(?)" "p.(Glu4343Lys)" "" "0000549978" "00024113" "30" "12813" "0" "12813" "0" "c.12813T>G" "r.(?)" "p.(Pro4271=)" "" "0000549979" "00024113" "10" "12597" "0" "12597" "0" "c.12597A>G" "r.(?)" "p.(Pro4199=)" "" "0000549980" "00024113" "90" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054Ter)" "" "0000549981" "00024113" "10" "11688" "0" "11688" "0" "c.11688G>A" "r.(?)" "p.(Arg3896=)" "" "0000549982" "00024113" "50" "11363" "0" "11363" "0" "c.11363G>A" "r.(?)" "p.(Arg3788His)" "" "0000549983" "00024113" "50" "11296" "0" "11296" "0" "c.11296G>A" "r.(?)" "p.(Val3766Ile)" "" "0000549984" "00024113" "50" "11210" "0" "11210" "0" "c.11210T>G" "r.(?)" "p.(Leu3737Arg)" "" "0000549985" "00024113" "50" "11120" "0" "11122" "0" "c.11120_11122del" "r.(?)" "p.(Leu3707del)" "" "0000549986" "00024113" "10" "11032" "0" "11032" "0" "c.11032C>G" "r.(?)" "p.(Pro3678Ala)" "" "0000549987" "00024113" "30" "11032" "0" "11032" "0" "c.11032C>G" "r.(?)" "p.(Pro3678Ala)" "" "0000549988" "00024113" "50" "10972" "0" "10972" "0" "c.10972C>T" "r.(?)" "p.(Arg3658Trp)" "" "0000549989" "00024113" "30" "10896" "0" "10896" "0" "c.10896A>G" "r.(?)" "p.(Ile3632Met)" "" "0000549990" "00024113" "10" "10821" "0" "10821" "0" "c.10821C>A" "r.(?)" "p.(Ile3607=)" "" "0000549991" "00024113" "30" "10668" "0" "10668" "0" "c.10668G>A" "r.(?)" "p.(Leu3556=)" "" "0000549992" "00024113" "30" "10611" "0" "10611" "0" "c.10611A>G" "r.(?)" "p.(Ala3537=)" "" "0000549993" "00024113" "50" "10181" "0" "10181" "0" "c.10181A>G" "r.(?)" "p.(Asn3394Ser)" "" "0000549994" "00024113" "50" "10002" "0" "10002" "0" "c.10002G>C" "r.(?)" "p.(Leu3334Phe)" "" "0000549995" "00024113" "30" "9846" "0" "9846" "0" "c.9846A>G" "r.(?)" "p.(Pro3282=)" "" "0000549996" "00024113" "50" "9107" "0" "9107" "0" "c.9107A>G" "r.(?)" "p.(Gln3036Arg)" "" "0000549997" "00024113" "30" "8760" "0" "8760" "0" "c.8760T>A" "r.(?)" "p.(Pro2920=)" "" "0000549998" "00024113" "90" "8691" "0" "8691" "0" "c.8691G>A" "r.(?)" "p.(Trp2897Ter)" "" "0000549999" "00024113" "30" "8482" "0" "8482" "0" "c.8482A>G" "r.(?)" "p.(Ser2828Gly)" "" "0000550000" "00024113" "50" "8393" "0" "8393" "0" "c.8393C>A" "r.(?)" "p.(Pro2798Gln)" "" "0000550001" "00024113" "50" "8393" "0" "8393" "0" "c.8393C>A" "r.(?)" "p.(Pro2798Gln)" "" "0000550002" "00024113" "50" "8393" "0" "8393" "0" "c.8393C>A" "r.(?)" "p.(Pro2798Gln)" "" "0000550003" "00024113" "50" "8393" "0" "8393" "0" "c.8393C>A" "r.(?)" "p.(Pro2798Gln)" "" "0000550004" "00024113" "50" "8339" "0" "8339" "0" "c.8339T>G" "r.(?)" "p.(Phe2780Cys)" "" "0000550005" "00024113" "30" "8339" "0" "8339" "0" "c.8339T>G" "r.(?)" "p.(Phe2780Cys)" "" "0000550006" "00024113" "30" "8339" "0" "8339" "0" "c.8339T>G" "r.(?)" "p.(Phe2780Cys)" "" "0000550007" "00024113" "50" "8245" "0" "8245" "0" "c.8245A>G" "r.(?)" "p.(Ile2749Val)" "" "0000550008" "00024113" "30" "8127" "0" "8127" "0" "c.8127A>C" "r.(?)" "p.(Lys2709Asn)" "" "0000550009" "00024113" "50" "7528" "0" "7528" "0" "c.7528G>A" "r.(?)" "p.(Ala2510Thr)" "" "0000550011" "00024113" "90" "7504" "0" "7504" "0" "c.7504C>T" "r.(?)" "p.(Arg2502Ter)" "" "0000550012" "00024113" "30" "7367" "0" "7367" "0" "c.7367C>T" "r.(?)" "p.(Thr2456Ile)" "" "0000550013" "00024113" "30" "7164" "0" "7164" "0" "c.7164C>T" "r.(?)" "p.(Thr2388=)" "" "0000550014" "00024113" "50" "7148" "0" "7148" "0" "c.7148G>A" "r.(?)" "p.(Arg2383His)" "" "0000550015" "00024113" "50" "6859" "0" "6859" "0" "c.6859A>C" "r.(?)" "p.(Lys2287Gln)" "" "0000550016" "00024113" "50" "6833" "0" "6833" "0" "c.6833T>C" "r.(?)" "p.(Val2278Ala)" "" "0000550017" "00024113" "30" "6781" "0" "6781" "0" "c.6781C>A" "r.(?)" "p.(Leu2261Ile)" "" "0000550018" "00024113" "50" "6775" "0" "6775" "0" "c.6775C>T" "r.(?)" "p.(Pro2259Ser)" "" "0000550019" "00024113" "30" "6576" "0" "6576" "0" "c.6576C>T" "r.(?)" "p.(Ile2192=)" "" "0000550022" "00024113" "50" "5891" "0" "5891" "0" "c.5891A>G" "r.(?)" "p.(Tyr1964Cys)" "" "0000550023" "00024113" "50" "5744" "0" "5744" "0" "c.5744A>G" "r.(?)" "p.(His1915Arg)" "" "0000550024" "00024113" "30" "5391" "0" "5391" "0" "c.5391G>C" "r.(?)" "p.(Lys1797Asn)" "" "0000550026" "00024113" "50" "5300" "0" "5300" "0" "c.5300T>G" "r.(?)" "p.(Phe1767Cys)" "" "0000550027" "00024113" "30" "5277" "0" "5277" "0" "c.5277T>C" "r.(?)" "p.(Ile1759=)" "" "0000550029" "00024113" "30" "4466" "0" "4466" "0" "c.4466A>G" "r.(?)" "p.(Asn1489Ser)" "" "0000550030" "00024113" "30" "4302" "0" "4302" "0" "c.4302A>G" "r.(?)" "p.(Leu1434=)" "" "0000550032" "00024113" "90" "3679" "0" "3679" "0" "c.3679delinsTA" "r.(?)" "p.(His1227Ter)" "" "0000550035" "00024113" "30" "3129" "0" "3129" "0" "c.3129A>G" "r.(?)" "p.(Ser1043=)" "" "0000550036" "00024113" "30" "3042" "0" "3042" "0" "c.3042A>G" "r.(?)" "p.(Leu1014=)" "" "0000550037" "00024113" "30" "2988" "0" "2988" "0" "c.2988A>G" "r.(?)" "p.(Leu996=)" "" "0000550038" "00024113" "30" "2983" "0" "2983" "0" "c.2983G>T" "r.(?)" "p.(Val995Phe)" "" "0000550039" "00024113" "30" "2776" "0" "2776" "0" "c.2776A>G" "r.(?)" "p.(Ile926Val)" "" "0000550040" "00024113" "50" "2708" "0" "2708" "0" "c.2708T>C" "r.(?)" "p.(Leu903Pro)" "" "0000550041" "00024113" "30" "2294" "0" "2294" "0" "c.2294A>G" "r.(?)" "p.(Tyr765Cys)" "" "0000550042" "00024113" "50" "2294" "0" "2294" "0" "c.2294A>G" "r.(?)" "p.(Tyr765Cys)" "" "0000550043" "00024113" "30" "2146" "0" "2146" "0" "c.2146C>T" "r.(?)" "p.(His716Tyr)" "" "0000550044" "00024113" "90" "1925" "0" "1925" "0" "c.1925del" "r.(?)" "p.(Gly642AlafsTer10)" "" "0000550045" "00024113" "90" "1925" "0" "1925" "0" "c.1925del" "r.(?)" "p.(Gly642AlafsTer10)" "" "0000550046" "00024113" "50" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Leu460Phe)" "" "0000550048" "00024113" "50" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "" "0000550049" "00024113" "50" "991" "0" "999" "0" "c.991_999del" "r.(?)" "p.(Phe331_Val333del)" "" "0000550050" "00024113" "50" "639" "0" "639" "0" "c.639G>T" "r.(?)" "p.(Gly213=)" "" "0000580237" "00024113" "90" "12398" "0" "12398" "0" "c.12398del" "r.(?)" "p.(Phe4280Serfs*28)" "" "0000580238" "00024113" "90" "5747" "0" "5747" "0" "c.5747T>A" "r.(?)" "p.(Val1916Asp)" "" "0000614532" "00024113" "70" "19337" "0" "19337" "0" "c.*5597A>G" "r.(=)" "p.(=)" "" "0000614533" "00024113" "30" "12899" "0" "12899" "0" "c.12899T>A" "r.(?)" "p.(Val4300Asp)" "" "0000614534" "00024113" "10" "10982" "0" "10982" "0" "c.10982C>T" "r.(?)" "p.(Ala3661Val)" "" "0000614535" "00024113" "50" "10954" "0" "10954" "0" "c.10954C>A" "r.(?)" "p.(Pro3652Thr)" "" "0000614536" "00024113" "50" "10907" "0" "10907" "0" "c.10907G>A" "r.(?)" "p.(Arg3636Gln)" "" "0000614537" "00024113" "50" "10336" "0" "10336" "0" "c.10336C>T" "r.(?)" "p.(Gln3446Ter)" "" "0000614538" "00024113" "10" "8873" "0" "8873" "0" "c.8873A>G" "r.(?)" "p.(Lys2958Arg)" "" "0000614539" "00024113" "30" "7737" "0" "7737" "0" "c.7737G>A" "r.(?)" "p.(Lys2579=)" "" "0000614540" "00024113" "30" "7527" "0" "7527" "0" "c.7527T>C" "r.(?)" "p.(Tyr2509=)" "" "0000614541" "00024113" "30" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Met1359Thr)" "" "0000614542" "00024113" "50" "2971" "0" "2971" "0" "c.2971T>C" "r.(?)" "p.(Cys991Arg)" "" "0000614543" "00024113" "10" "2721" "0" "2721" "0" "c.2721G>A" "r.(?)" "p.(Leu907=)" "" "0000614544" "00024113" "30" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Gly674Asp)" "" "0000614545" "00024113" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Ala387Thr)" "" "0000623032" "00024113" "90" "7205" "0" "7206" "0" "c.7205_7206del" "r.(?)" "p.(Leu2402ArgfsTer6)" "" "0000623033" "00024113" "50" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Pro2099Ser)" "" "0000623034" "00024113" "30" "2825" "0" "2825" "0" "c.2825C>T" "r.(?)" "p.(Thr942Ile)" "" "0000623035" "00024113" "30" "810" "0" "810" "0" "c.810T>G" "r.(?)" "p.(Phe270Leu)" "" "0000623036" "00024113" "50" "662" "0" "662" "0" "c.662T>C" "r.(?)" "p.(Leu221Pro)" "" "0000648714" "00024113" "50" "13717" "0" "13717" "0" "c.13717A>C" "r.(?)" "p.(Asn4573His)" "" "0000648715" "00024113" "50" "9551" "0" "9551" "0" "c.9551G>A" "r.(?)" "p.(Arg3184His)" "" "0000648716" "00024113" "50" "8990" "0" "8990" "0" "c.8990G>A" "r.(?)" "p.(Arg2997Gln)" "" "0000648717" "00024113" "50" "8339" "0" "8339" "0" "c.8339T>G" "r.(?)" "p.(Phe2780Cys)" "" "0000648718" "00024113" "50" "7528" "0" "7528" "0" "c.7528G>A" "r.(?)" "p.(Ala2510Thr)" "" "0000648719" "00024113" "10" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Ala694Thr)" "" "0000648720" "00024113" "30" "909" "0" "909" "0" "c.909A>G" "r.(=)" "p.(=)" "" "0000657263" "00024113" "30" "7527" "0" "7527" "0" "c.7527T>C" "r.(?)" "p.(Tyr2509=)" "" "0000657264" "00024113" "70" "6334" "0" "6334" "0" "c.6334A>T" "r.(?)" "p.(Arg2112Ter)" "" "0000657265" "00024113" "50" "1667" "0" "1667" "0" "c.1667T>C" "r.(?)" "p.(Leu556Pro)" "" "0000657266" "00024113" "50" "972" "0" "972" "0" "c.972C>A" "r.(?)" "p.(Asp324Glu)" "" "0000669212" "00024113" "10" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Ala694Thr)" "" "0000669213" "00024113" "30" "909" "0" "909" "0" "c.909A>G" "r.(=)" "p.(=)" "" "0000674872" "00024113" "30" "6585" "0" "6585" "0" "c.6585A>T" "r.(?)" "p.(Lys2195Asn)" "" "0000674873" "00024113" "30" "6585" "0" "6585" "0" "c.6585A>T" "r.(?)" "p.(Lys2195Asn)" "" "0000675239" "00024113" "90" "10245" "0" "10245" "0" "c.10245dup" "r.(?)" "p.(Ile3416Hisfs*25)" "" "0000675240" "00024113" "90" "13015" "0" "13015" "0" "c.13015G>A" "r.(?)" "p.(Asp4339Asn)" "" "0000679741" "00024113" "50" "11155" "0" "11155" "0" "c.11155C>A" "r.(?)" "p.(Gln3719Lys)" "" "0000679742" "00024113" "50" "10130" "0" "10130" "0" "c.10130A>G" "r.(?)" "p.(Glu3377Gly)" "" "0000679743" "00024113" "30" "10008" "0" "10008" "0" "c.10008A>G" "r.(?)" "p.(Lys3336=)" "" "0000679744" "00024113" "30" "2146" "0" "2146" "0" "c.2146C>T" "r.(?)" "p.(His716Tyr)" "" "0000691485" "00024113" "70" "12731" "0" "12732" "0" "c.12731_12732del" "r.(?)" "p.(Lys4244IlefsTer5)" "" "0000691486" "00024113" "50" "4934" "0" "4934" "0" "c.4934G>T" "r.(?)" "p.(Arg1645Leu)" "" "0000691487" "00024113" "50" "1219" "0" "1219" "0" "c.1219C>A" "r.(?)" "p.(Leu407Ile)" "" "0000724383" "00024113" "30" "12813" "0" "12813" "0" "c.12813T>G" "r.(?)" "p.(Pro4271=)" "" "0000724384" "00024113" "30" "10780" "0" "10780" "0" "c.10780A>T" "r.(?)" "p.(Ile3594Leu)" "" "0000724385" "00024113" "30" "7711" "0" "7711" "0" "c.7711C>G" "r.(?)" "p.(Pro2571Ala)" "" "0000724386" "00024113" "50" "7528" "0" "7528" "0" "c.7528G>A" "r.(?)" "p.(Ala2510Thr)" "" "0000724387" "00024113" "30" "7165" "0" "7165" "0" "c.7165G>A" "r.(?)" "p.(Val2389Met)" "" "0000724388" "00024113" "50" "6364" "0" "6364" "0" "c.6364A>G" "r.(?)" "p.(Lys2122Glu)" "" "0000724389" "00024113" "50" "4114" "0" "4114" "0" "c.4114C>A" "r.(?)" "p.(Pro1372Thr)" "" "0000724390" "00024113" "30" "1562" "0" "1562" "0" "c.1562G>C" "r.(?)" "p.(Ser521Thr)" "" "0000724391" "00024113" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Thr30=)" "" "0000787168" "00024113" "50" "1607" "0" "1607" "0" "c.1607C>T" "r.(?)" "p.(Pro536Leu)" "8" "0000787374" "00024113" "50" "605" "-3" "605" "-3" "c.605-3C>G" "r.spl" "p.?" "7i" "0000787375" "00024113" "50" "7016" "0" "7016" "0" "c.7016A>G" "r.(?)" "p.(Asp2339Gly)" "10" "0000806045" "00024113" "90" "19363" "0" "19363" "0" "c.*5623C>T" "r.(=)" "p.(=)" "" "0000806046" "00024113" "30" "12103" "0" "12103" "0" "c.12103A>G" "r.(?)" "p.(Ile4035Val)" "" "0000806047" "00024113" "50" "9562" "0" "9562" "0" "c.9562T>C" "r.(?)" "p.(Phe3188Leu)" "" "0000806048" "00024113" "70" "9508" "0" "9508" "0" "c.9508C>T" "r.(?)" "p.(Arg3170*)" "" "0000806049" "00024113" "30" "8022" "0" "8022" "0" "c.8022T>C" "r.(?)" "p.(Phe2674=)" "" "0000806050" "00024113" "50" "4936" "0" "4936" "0" "c.4936C>A" "r.(?)" "p.(Leu1646Met)" "" "0000833394" "00024113" "50" "10982" "0" "10982" "0" "c.10982C>T" "r.(?)" "p.(Ala3661Val)" "" "0000833395" "00024113" "50" "10909" "0" "10909" "0" "c.10909A>G" "r.(?)" "p.(Met3637Val)" "" "0000841444" "00024113" "90" "6242" "0" "6242" "0" "c.6242T>C" "r.(?)" "p.(Leu2081Pro)" "10" "0000841447" "00024113" "90" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401*)" "10" "0000842399" "00024113" "50" "4117" "0" "4118" "0" "c.4117_4118delinsAG" "r.(?)" "p.(Ala1373Arg)" "" "0000847152" "00024113" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Ter)" "" "0000847157" "00024113" "90" "11185" "0" "11185" "0" "c.11185C>T" "r.(?)" "p.(Gln3729Ter)" "" "0000847179" "00024113" "90" "6338" "0" "6341" "0" "c.6338_6341del" "r.(?)" "p.(Leu2113SerfsTer32)" "" "0000847196" "00024113" "50" "5903" "0" "5903" "0" "c.5903C>T" "r.(?)" "p.(Ala1968Val)" "" "0000847197" "00024113" "50" "3427" "0" "3427" "0" "c.3427C>A" "r.(?)" "p.(Gln1143Lys)" "" "0000853593" "00024113" "30" "7528" "0" "7528" "0" "c.7528G>A" "r.(?)" "p.(Ala2510Thr)" "" "0000863234" "00024113" "10" "19526" "0" "19526" "0" "c.*5786A>G" "r.(=)" "p.(=)" "" "0000863235" "00024113" "10" "12304" "0" "12304" "0" "c.12304T>C" "r.(?)" "p.(Leu4102=)" "" "0000863236" "00024113" "30" "8339" "0" "8339" "0" "c.8339T>G" "r.(?)" "p.(Phe2780Cys)" "" "0000863237" "00024113" "50" "5401" "0" "5401" "0" "c.5401T>G" "r.(?)" "p.(Ser1801Ala)" "" "0000863238" "00024113" "30" "2186" "-93" "2186" "-91" "c.2186-93_2186-91del" "r.(=)" "p.(=)" "" "0000874557" "00024113" "90" "12160" "0" "12160" "0" "c.12160C>T" "r.(?)" "p.(Gln4054Ter)" "" "0000874567" "00024113" "70" "10094" "0" "10094" "0" "c.10094T>C" "r.(?)" "p.(Leu3365Pro)" "" "0000890908" "00024113" "30" "10291" "0" "10291" "0" "c.10291G>C" "r.(?)" "p.(Val3431Leu)" "" "0000890909" "00024113" "30" "8127" "0" "8127" "0" "c.8127A>C" "r.(?)" "p.(Lys2709Asn)" "" "0000890910" "00024113" "50" "7282" "0" "7282" "0" "c.7282A>G" "r.(?)" "p.(Ile2428Val)" "" "0000890911" "00024113" "50" "4985" "0" "4985" "0" "c.4985C>T" "r.(?)" "p.(Thr1662Met)" "" "0000890912" "00024113" "30" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Met1359Thr)" "" "0000890913" "00024113" "30" "2988" "0" "2988" "0" "c.2988A>G" "r.(?)" "p.(Leu996=)" "" "0000890914" "00024113" "30" "2983" "0" "2983" "0" "c.2983G>T" "r.(?)" "p.(Val995Phe)" "" "0000890915" "00024113" "30" "2580" "0" "2580" "0" "c.2580A>G" "r.(?)" "p.(Gln860=)" "" "0000890916" "00024113" "90" "2543" "0" "2561" "0" "c.2543_2561del" "r.(?)" "p.(Gly848Aspfs*2)" "" "0000890917" "00024113" "30" "2146" "0" "2146" "0" "c.2146C>T" "r.(?)" "p.(His716Tyr)" "" "0000890918" "00024113" "30" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Thr458Ile)" "" "0000930183" "00024113" "50" "4077" "0" "4077" "0" "c.4077G>T" "r.(?)" "p.(Met1359Ile)" "" "0000930184" "00024113" "30" "2776" "0" "2776" "0" "c.2776A>G" "r.(?)" "p.(Ile926Val)" "" "0000946839" "00024113" "90" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401Ter)" "" "0000946840" "00024113" "90" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401Ter)" "" "0000946841" "00024113" "90" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401Ter)" "" "0000950066" "00024113" "10" "346" "-19" "346" "-19" "c.346-19del" "r.(=)" "p.(=)" "" "0000967174" "00024113" "50" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Thr458Ile)" "" "0000980587" "00024113" "50" "13683" "0" "13683" "0" "c.13683G>A" "r.(?)" "p.(Met4561Ile)" "" "0000980588" "00024113" "50" "8900" "0" "8900" "0" "c.8900G>A" "r.(?)" "p.(Arg2967His)" "" "0000980589" "00024113" "50" "2359" "0" "2359" "0" "c.2359T>C" "r.(?)" "p.(Tyr787His)" "" "0000980590" "00024113" "50" "1885" "0" "1885" "0" "c.1885G>A" "r.(?)" "p.(Ala629Thr)" "" "0000980591" "00024113" "50" "1219" "0" "1219" "0" "c.1219C>A" "r.(?)" "p.(Leu407Ile)" "" "0000985190" "00024113" "70" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Ser208Asn)" "8" "0000985191" "00024113" "70" "1728" "0" "1728" "0" "c.1728C>G" "r.(?)" "p.(Tyr576*)" "8" "0000988633" "00024113" "90" "4020" "0" "4020" "0" "c.4020T>A" "r.(?)" "p.(Tyr1340*)" "10" "0000988634" "00024113" "90" "12150" "0" "12157" "0" "c.12150_12157delinsCTT" "r.(?)" "p.(Glu4051Phefs*8)" "10" "0001000471" "00024113" "50" "13234" "0" "13234" "0" "c.13234A>G" "r.(?)" "p.(Arg4412Gly)" "" "0001000472" "00024113" "50" "13024" "0" "13024" "0" "c.13024C>T" "r.(?)" "p.(Pro4342Ser)" "" "0001000473" "00024113" "30" "10829" "0" "10829" "0" "c.10829G>C" "r.(?)" "p.(Arg3610Thr)" "" "0001000474" "00024113" "50" "10232" "0" "10232" "0" "c.10232C>T" "r.(?)" "p.(Pro3411Leu)" "" "0001000475" "00024113" "30" "6163" "0" "6163" "0" "c.6163C>A" "r.(?)" "p.(Gln2055Lys)" "" "0001000476" "00024113" "30" "3427" "0" "3427" "0" "c.3427C>A" "r.(?)" "p.(Gln1143Lys)" "" "0001011921" "00024113" "90" "5492" "0" "5492" "0" "c.5492del" "r.(?)" "p.(Lys1831SerfsTer4)" "" "0001011971" "00024113" "90" "4933" "0" "4933" "0" "c.4933C>T" "r.(?)" "p.(Arg1645Ter)" "" "0001012000" "00024113" "90" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401Ter)" "" "0001012010" "00024113" "90" "2829" "0" "2829" "0" "c.2829dup" "r.(?)" "p.(Phe797IlefsTer2)" "" "0001015039" "00024113" "50" "11276" "0" "11276" "0" "c.11276C>T" "r.(?)" "p.(Thr3759Met)" "" "0001015040" "00024113" "50" "432" "0" "432" "0" "c.432G>T" "r.(?)" "p.(Trp144Cys)" "" "0001026266" "00024113" "30" "7528" "0" "7528" "0" "c.7528G>A" "r.(?)" "p.(Ala2510Thr)" "" "0001026267" "00024113" "30" "4466" "0" "4466" "0" "c.4466A>G" "r.(?)" "p.(Asn1489Ser)" "" "0001039606" "00024113" "50" "11327" "0" "11327" "0" "c.11327T>C" "r.(?)" "p.(Ile3776Thr)" "" "0001039607" "00024113" "50" "11276" "0" "11276" "0" "c.11276C>T" "r.(?)" "p.(Thr3759Met)" "" "0001039608" "00024113" "50" "8956" "0" "8956" "0" "c.8956C>G" "r.(?)" "p.(His2986Asp)" "" "0001039609" "00024113" "50" "8245" "0" "8245" "0" "c.8245A>G" "r.(?)" "p.(Ile2749Val)" "" "0001039610" "00024113" "50" "7939" "0" "7939" "0" "c.7939A>G" "r.(?)" "p.(Ile2647Val)" "" "0001039611" "00024113" "30" "7163" "0" "7163" "0" "c.7163C>T" "r.(?)" "p.(Thr2388Ile)" "" "0001039612" "00024113" "50" "7063" "0" "7063" "0" "c.7063G>A" "r.(?)" "p.(Asp2355Asn)" "" "0001039613" "00024113" "50" "6952" "0" "6952" "0" "c.6952G>A" "r.(?)" "p.(Ala2318Thr)" "" "0001039614" "00024113" "50" "6640" "0" "6640" "0" "c.6640C>T" "r.(?)" "p.(Arg2214Cys)" "" "0001039615" "00024113" "50" "6413" "0" "6413" "0" "c.6413A>T" "r.(?)" "p.(Asp2138Val)" "" "0001039616" "00024113" "50" "5077" "0" "5077" "0" "c.5077A>G" "r.(?)" "p.(Met1693Val)" "" "0001039617" "00024113" "50" "4936" "0" "4936" "0" "c.4936C>A" "r.(?)" "p.(Leu1646Met)" "" "0001039618" "00024113" "50" "4172" "0" "4172" "0" "c.4172T>C" "r.(?)" "p.(Ile1391Thr)" "" "0001039619" "00024113" "50" "2225" "0" "2225" "0" "c.2225G>A" "r.(?)" "p.(Arg742Gln)" "" "0001039620" "00024113" "50" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" "" "0001039621" "00024113" "50" "956" "0" "956" "0" "c.956A>T" "r.(?)" "p.(Tyr319Phe)" "" "0001039622" "00024113" "50" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" "" "0001046415" "00024113" "30" "13717" "0" "13717" "0" "c.13717A>C" "r.(?)" "p.(Asn4573His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 376 "{{screeningid}}" "{{variantid}}" "0000059224" "0000090063" "0000060277" "0000091297" "0000145477" "0000237849" "0000145477" "0000237850" "0000145542" "0000237924" "0000145542" "0000237955" "0000145543" "0000237925" "0000145543" "0000238165" "0000145544" "0000237926" "0000145544" "0000238144" "0000145545" "0000237927" "0000145545" "0000238024" "0000145546" "0000237928" "0000145546" "0000238056" "0000145547" "0000237929" "0000145547" "0000238217" "0000145548" "0000237930" "0000145548" "0000237931" "0000145549" "0000237932" "0000145549" "0000238020" "0000145550" "0000237933" "0000145550" "0000238021" "0000145551" "0000237934" "0000145551" "0000238035" "0000145552" "0000237916" "0000145553" "0000237921" "0000145553" "0000237961" "0000145554" "0000237945" "0000145554" "0000237951" "0000145554" "0000238050" "0000145555" "0000238058" "0000145555" "0000238215" "0000145556" "0000238059" "0000145556" "0000238137" "0000145557" "0000238094" "0000145557" "0000238124" "0000145558" "0000238095" "0000145558" "0000238125" "0000145559" "0000238062" "0000145559" "0000238112" "0000145560" "0000238113" "0000145561" "0000238118" "0000145562" "0000238145" "0000145562" "0000238169" "0000145563" "0000238182" "0000145563" "0000238212" "0000145564" "0000238183" "0000145564" "0000238213" "0000145565" "0000238184" "0000145565" "0000238185" "0000145566" "0000238186" "0000145567" "0000238187" "0000145568" "0000238188" "0000145569" "0000237975" "0000145569" "0000238189" "0000145570" "0000237976" "0000145570" "0000238190" "0000145571" "0000237977" "0000145571" "0000238191" "0000145572" "0000238192" "0000145573" "0000237935" "0000145573" "0000238193" "0000145574" "0000237936" "0000145574" "0000238194" "0000145575" "0000238197" "0000145575" "0000238238" "0000145576" "0000238198" "0000145576" "0000238239" "0000145577" "0000238226" "0000145577" "0000238227" "0000145578" "0000238228" "0000145578" "0000238229" "0000145579" "0000237943" "0000145579" "0000238235" "0000145580" "0000237920" "0000145580" "0000238236" "0000145581" "0000238237" "0000145582" "0000237982" "0000145583" "0000237983" "0000145583" "0000238216" "0000145584" "0000238001" "0000145584" "0000238086" "0000145585" "0000238002" "0000145585" "0000238140" "0000145586" "0000238003" "0000145586" "0000238141" "0000145587" "0000238036" "0000145588" "0000238037" "0000145588" "0000238067" "0000145589" "0000238038" "0000145589" "0000238053" "0000145590" "0000238039" "0000145590" "0000238133" "0000145591" "0000238040" "0000145591" "0000238159" "0000145592" "0000238041" "0000145592" "0000238177" "0000145593" "0000238042" "0000145593" "0000238178" "0000145594" "0000237971" "0000145594" "0000238033" "0000145594" "0000238043" "0000145595" "0000238044" "0000145595" "0000238199" "0000145596" "0000238014" "0000145596" "0000238045" "0000145597" "0000238046" "0000145598" "0000238047" "0000145598" "0000238081" "0000145599" "0000238048" "0000145599" "0000238082" "0000145600" "0000237990" "0000145600" "0000238049" "0000145601" "0000238051" "0000145602" "0000238022" "0000145602" "0000238052" "0000145603" "0000238054" "0000145604" "0000238055" "0000145605" "0000238166" "0000145605" "0000238242" "0000145606" "0000238057" "0000145606" "0000238115" "0000145607" "0000237984" "0000145607" "0000238060" "0000145608" "0000237985" "0000145608" "0000238061" "0000145609" "0000237972" "0000145609" "0000238063" "0000145610" "0000238064" "0000145610" "0000238087" "0000145610" "0000238156" "0000145611" "0000238065" "0000145611" "0000238088" "0000145611" "0000238157" "0000145612" "0000237948" "0000145612" "0000237954" "0000145612" "0000238066" "0000145613" "0000238068" "0000145614" "0000238069" "0000145615" "0000238070" "0000145616" "0000237941" "0000145616" "0000238071" "0000145617" "0000238072" "0000145617" "0000238110" "0000145618" "0000237974" "0000145618" "0000238073" "0000145619" "0000237978" "0000145619" "0000238074" "0000145620" "0000238075" "0000145621" "0000237919" "0000145621" "0000238076" "0000145622" "0000238077" "0000145622" "0000238202" "0000145623" "0000238078" "0000145623" "0000238203" "0000145624" "0000238079" "0000145625" "0000237942" "0000145625" "0000238080" "0000145626" "0000238083" "0000145627" "0000238084" "0000145628" "0000238085" "0000145629" "0000238089" "0000145630" "0000237968" "0000145630" "0000238090" "0000145631" "0000237956" "0000145631" "0000237969" "0000145631" "0000238091" "0000145632" "0000237970" "0000145632" "0000238092" "0000145632" "0000238161" "0000145633" "0000238093" "0000145634" "0000238096" "0000145635" "0000238097" "0000145635" "0000238129" "0000145636" "0000238098" "0000145636" "0000238130" "0000145637" "0000238099" "0000145637" "0000238132" "0000145638" "0000238100" "0000145638" "0000238138" "0000145639" "0000237963" "0000145639" "0000238101" "0000145640" "0000238102" "0000145641" "0000238103" "0000145641" "0000238146" "0000145642" "0000238104" "0000145642" "0000238207" "0000145643" "0000238105" "0000145643" "0000238208" "0000145644" "0000238106" "0000145644" "0000238209" "0000145645" "0000238107" "0000145645" "0000238210" "0000145646" "0000238108" "0000145646" "0000238211" "0000145647" "0000238109" "0000145647" "0000238204" "0000145648" "0000238111" "0000145649" "0000238114" "0000145650" "0000238116" "0000145650" "0000238120" "0000145651" "0000238117" "0000145652" "0000237995" "0000145652" "0000238119" "0000145653" "0000238017" "0000145653" "0000238121" "0000145654" "0000238122" "0000145654" "0000238142" "0000145654" "0000238154" "0000145655" "0000238123" "0000145655" "0000238148" "0000145656" "0000238007" "0000145656" "0000238126" "0000145657" "0000238127" "0000145658" "0000238128" "0000145658" "0000238196" "0000145659" "0000238016" "0000145659" "0000238131" "0000145660" "0000238134" "0000145661" "0000238136" "0000145661" "0000238218" "0000145662" "0000238135" "0000145662" "0000238139" "0000145663" "0000238143" "0000145664" "0000237922" "0000145664" "0000237989" "0000145665" "0000238147" "0000145666" "0000238149" "0000145666" "0000238225" "0000145667" "0000238150" "0000145667" "0000238151" "0000145668" "0000238152" "0000145668" "0000238153" "0000145669" "0000238155" "0000145670" "0000238158" "0000145670" "0000238221" "0000145671" "0000238160" "0000145672" "0000238025" "0000145672" "0000238162" "0000145673" "0000238026" "0000145673" "0000238163" "0000145674" "0000238027" "0000145674" "0000238164" "0000145675" "0000238167" "0000145676" "0000238168" "0000145677" "0000238170" "0000145677" "0000238224" "0000145678" "0000238171" "0000145679" "0000237949" "0000145679" "0000238172" "0000145680" "0000238173" "0000145680" "0000238222" "0000145681" "0000238174" "0000145681" "0000238223" "0000145682" "0000238175" "0000145683" "0000238176" "0000145684" "0000238179" "0000145685" "0000238180" "0000145686" "0000238181" "0000145687" "0000237940" "0000145687" "0000238195" "0000145688" "0000238200" "0000145688" "0000238201" "0000145689" "0000238205" "0000145690" "0000238206" "0000145691" "0000238018" "0000145691" "0000238214" "0000145692" "0000238219" "0000145692" "0000238234" "0000145693" "0000238220" "0000145694" "0000238230" "0000145695" "0000238231" "0000145696" "0000238232" "0000145697" "0000238233" "0000145698" "0000238240" "0000145699" "0000238241" "0000145700" "0000237923" "0000145700" "0000237939" "0000145701" "0000237937" "0000145702" "0000237938" "0000145703" "0000237944" "0000145703" "0000237950" "0000145703" "0000237960" "0000145704" "0000237946" "0000145704" "0000237947" "0000145704" "0000237952" "0000145704" "0000237953" "0000145705" "0000237957" "0000145706" "0000237958" "0000145707" "0000237959" "0000145708" "0000237917" "0000145708" "0000237918" "0000145709" "0000237962" "0000145709" "0000237979" "0000145710" "0000237964" "0000145711" "0000237965" "0000145712" "0000237966" "0000145713" "0000237967" "0000145714" "0000237973" "0000145715" "0000237980" "0000145716" "0000237981" "0000145717" "0000237986" "0000145718" "0000237987" "0000145718" "0000237988" "0000145719" "0000237991" "0000145719" "0000237992" "0000145720" "0000237993" "0000145720" "0000237994" "0000145721" "0000237996" "0000145721" "0000237997" "0000145722" "0000237998" "0000145723" "0000237999" "0000145724" "0000238000" "0000145725" "0000238004" "0000145726" "0000238005" "0000145727" "0000238006" "0000145728" "0000238008" "0000145729" "0000238009" "0000145730" "0000238010" "0000145731" "0000238011" "0000145732" "0000238012" "0000145733" "0000238013" "0000145734" "0000238015" "0000145735" "0000238019" "0000145735" "0000238032" "0000145736" "0000238023" "0000145737" "0000238028" "0000145738" "0000238029" "0000145739" "0000238030" "0000145740" "0000238031" "0000145741" "0000238034" "0000151014" "0000244172" "0000151014" "0000244173" "0000155838" "0000356923" "0000155838" "0000356924" "0000156093" "0000357988" "0000224040" "0000456094" "0000250846" "0000580237" "0000250846" "0000580238" "0000292025" "0000648714" "0000292026" "0000648715" "0000292027" "0000648716" "0000292028" "0000648717" "0000292029" "0000648718" "0000292030" "0000648719" "0000292031" "0000648720" "0000305524" "0000669212" "0000305525" "0000669213" "0000308037" "0000674873" "0000308038" "0000674872" "0000308291" "0000675239" "0000308291" "0000675240" "0000375817" "0000787168" "0000376023" "0000787374" "0000376024" "0000787375" "0000400490" "0000833394" "0000400490" "0000833395" "0000405354" "0000841444" "0000405359" "0000841447" "0000406168" "0000842399" "0000409936" "0000847152" "0000409936" "0000847179" "0000409941" "0000847157" "0000409968" "0000847196" "0000409968" "0000847197" "0000444903" "0000946839" "0000444904" "0000946840" "0000444905" "0000946841" "0000451337" "0000985190" "0000451337" "0000985191" "0000453867" "0000988633" "0000453867" "0000988634" "0000457418" "0001011921" "0000457418" "0001012000" "0000457468" "0001011971" "0000457468" "0001012010"