### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GAMT) # 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}}" "GAMT" "guanidinoacetate N-methyltransferase" "19" "p13.3" "unknown" "NG_009785.1" "UD_134408329304" "" "http://www.LOVD.nl/GAMT" "" "1" "4136" "2593" "601240" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GAMT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-05-07 00:00:00" "00006" "2016-11-16 21:40:10" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024200" "GAMT" "transcript variant 1" "001" "NM_000156.5" "" "NP_000147.1" "" "" "" "-94" "1044" "711" "1401569" "1397025" "00006" "2016-11-16 21:36:26" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "03185" "CCDS" "deficiency, cerebral creatine, syndrome (CCDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-07 10:08:15" "03186" "CCDS2;GAMTD" "deficiency, cerebral creatine, syndrome, type 2 (CCDS2, guanidinoacetate methyltransferase deficiency (GAMTD))" "AR" "612736" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-07 10:04:24" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GAMT" "00139" "GAMT" "03185" "GAMT" "03186" ## Individuals ## Do not remove or alter this header ## ## Count = 172 "{{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}}" "00080978" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00184633" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "" "M" "" "Germany" "" "0" "" "" "" "" "00184634" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "" "F" "" "Germany" "" "0" "" "" "" "" "00184635" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "" "F" "" "Germany" "" "0" "" "" "" "" "00184636" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "" "M" "" "Germany" "" "0" "" "" "" "" "00184637" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "" "" "Germany" "" "0" "" "" "" "" "00184638" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "Germany" "" "0" "" "" "" "" "00184639" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "" "" "0" "" "" "" "" "00184640" "" "" "" "1" "" "01815" "{PMID:O\'Rourke 2009:19388150}, Mahmutoglu et al, in preparation" "" "F" "" "" "" "0" "" "" "" "" "00184641" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "" "" "0" "" "" "" "" "00184642" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "United States" "" "0" "" "" "" "" "00184643" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "United States" "" "0" "" "" "" "" "00184647" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "M" "" "United States" "" "0" "" "" "" "" "00184648" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "F" "" "France" "" "0" "" "" "" "" "00184649" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "F" "" "France" "" "0" "" "" "" "" "00184650" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "M" "" "France" "" "0" "" "" "" "" "00184651" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184653" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184654" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184655" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184660" "" "" "" "1" "" "01815" "{PMID:Caldeira Araujo 2005:15651030}, Mahmutoglu et al, in preparation" "" "F" "" "Portugal" "" "0" "" "" "" "" "00184661" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00184662" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00184663" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00184664" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00184665" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00184666" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184667" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184668" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00184669" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00184670" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00184671" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00184672" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00184673" "" "" "" "1" "" "01815" "{PMID:Mercimek-Mahmutoglu 2006:16855203}" "" "M" "" "France" "" "0" "" "" "" "" "00184674" "" "" "" "1" "" "01815" "{PMID:Mercimek-Mahmutoglu 2006:16855203}" "" "F" "" "France" "" "0" "" "" "" "" "00184675" "" "" "" "1" "" "01815" "{PMID:Mercimek-Mahmutoglu 2006:16855203}" "" "M" "" "France" "" "0" "" "" "" "" "00184676" "" "" "" "1" "" "01815" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "M" "" "United States" "" "0" "" "" "" "" "00184677" "" "" "" "1" "" "01815" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "M" "" "United States" "" "0" "" "" "" "" "00184679" "" "" "" "1" "" "01815" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "M" "" "United States" "" "0" "" "" "" "" "00184680" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00184681" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "France" "" "0" "" "" "" "" "00184682" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "France" "" "0" "" "" "" "" "00184683" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "France" "" "0" "" "" "" "" "00184684" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00184685" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00184686" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00184687" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00184688" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00184689" "" "" "" "1" "" "01815" "{PMID:Almeida 2007:17336114}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00184690" "" "" "" "1" "" "01815" "{PMID:Carducci 2000:11136556}" "" "M" "" "Germany" "" "0" "" "" "" "" "00184693" "" "" "" "1" "" "01815" "{PMID:Leuzzi 2006:16293431}" "" "F" "" "Italy" "" "0" "" "" "" "" "00184696" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "" "" "Denmark" "" "0" "" "" "" "" "00184697" "" "" "" "1" "" "01815" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "F" "" "Ireland" "" "0" "" "" "" "" "00184698" "" "" "" "1" "" "01815" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "F" "" "Ireland" "" "0" "" "" "" "" "00184699" "" "" "" "1" "" "01815" "{PMID:O\'Rourke 2009:19388150}, Mahmutoglu et al, in preparation" "" "F" "" "Ireland" "" "0" "" "" "" "" "00184700" "" "" "" "1" "" "01815" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "M" "" "Ireland" "" "0" "" "" "" "" "00184701" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184702" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184703" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184704" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184705" "" "" "" "1" "" "01815" "{PMID:Comeaux 2013:23660394}, Mahmutoglu et al, in preparation" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184706" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184707" "" "" "" "1" "" "01815" "{PMID:Comeaux 2013:23660394}, Mahmutoglu et al, in preparation" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184708" "" "" "" "1" "" "01815" "{PMID:Morris 2006:17171576}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184709" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184710" "" "" "" "1" "" "01815" "{PMID:Comeaux 2013:23660394}, Mahmutoglu et al, in preparation" "" "F" "" "France" "" "0" "" "" "" "" "00184711" "" "" "" "1" "" "01815" "{PMID:Comeaux 2013:23660394}, Mahmutoglu et al, in preparation" "" "F" "" "France" "" "0" "" "" "" "" "00184712" "" "" "" "1" "" "01815" "{PMID:Dhar 2009:19027335}" "" "M" "" "France" "" "0" "" "" "" "" "00184713" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "United States" "" "0" "" "" "" "" "00184714" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "United States" "" "0" "" "" "" "" "00184715" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "United States" "" "0" "" "" "" "" "00184717" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "F" "" "France" "" "0" "" "" "" "" "00184718" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "F" "" "France" "" "0" "" "" "" "" "00184719" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "M" "" "France" "" "0" "" "" "" "" "00184722" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184723" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184724" "" "" "" "1" "" "01815" "{PMID:Caldeira Araujo 2005:15651030}, Mahmutoglu et al, in preparation" "" "M" "" "France" "" "0" "" "" "" "" "00184725" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "F" "" "France" "" "0" "" "" "" "" "00184726" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "Canada" "" "0" "" "" "" "" "00184727" "" "" "" "1" "" "01815" "{PMID:Sempere 2009:19892372}" "" "M" "" "Spain" "" "0" "" "" "" "" "00184728" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184729" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184730" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184731" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184732" "" "" "" "1" "" "01815" "{PMID:Dhar 2009:19027335}" "" "M" "" "Canada" "" "0" "" "" "" "" "00184733" "" "" "" "1" "" "01815" "{PMID:Dhar 2009:19027335}" "" "F" "" "Canada" "" "0" "" "" "" "" "00184734" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184735" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184736" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184737" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184738" "" "" "" "1" "" "01815" "{PMID:Sempere 2009:19892372}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00184739" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "" "F" "" "Norway" "" "0" "" "" "" "" "00184740" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00184746" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184747" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Patient no 12 in Item et al, 2004" "" "" "Egypt" "" "0" "" "" "" "" "00184748" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Mother of patient no 12 in Item et al, 2004" "F" "" "Egypt" "" "0" "" "" "" "" "00184749" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Father of patient no 12 in Item et al, 2004" "M" "" "Egypt" "" "0" "" "" "" "" "00184750" "" "" "" "1" "" "01815" "{PMID:Mercimek-Mahmutoglu 2006:16855203}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184751" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "" "" "" "" "0" "" "" "" "" "00184752" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "" "F" "" "" "" "0" "" "" "" "" "00184753" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Patient no 7 in Item et al, 2004" "F" "" "" "" "0" "" "" "Kosovo" "" "00184754" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Patient no 8 in Item et al, 2004" "F" "" "" "" "0" "" "" "Kosovo" "" "00184755" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Mother of pat no7 & no8 in Item et al, 2004" "F" "" "" "" "0" "" "" "Kosovo" "" "00184756" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Father of pat no7 & no8 in Item et al, 2004" "M" "" "" "" "0" "" "" "Kosovo" "" "00184757" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Patient no 9 in Item et al, 2004" "" "" "Turkey" "" "0" "" "" "" "" "00184758" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Mother of Pat no 9 in Item et al, 2004" "F" "" "Turkey" "" "0" "" "" "" "" "00184759" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Father of Pat no 9 in Item et al, 2004" "M" "" "Turkey" "" "0" "" "" "" "" "00184760" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Patient no 10 in Item et al, 2004" "" "" "Turkey" "" "0" "" "" "" "" "00184761" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Mother of pat no 10 in Item et al, 2004" "F" "" "Turkey" "" "0" "" "" "" "" "00184762" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Father of pat no 10 in Item et al, 2004" "M" "" "Turkey" "" "0" "" "" "" "" "00184763" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Patient no 11 in Item et al, 2004" "" "" "Spain" "" "0" "" "" "" "" "00184764" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Mother of patient no 11 in Item et al, s004" "F" "" "Spain" "" "0" "" "" "" "" "00184765" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Father of patient no 11 in Item et al, 2004" "M" "" "Spain" "" "0" "" "" "" "" "00184766" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Patient no 13 in Item et al, 2004" "" "" "Turkey" "" "0" "" "" "" "" "00184767" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Mother of Pat no 13 in Item et al, 2004" "F" "" "Turkey" "" "0" "" "" "" "" "00184768" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "Father of pat no 13 in Item et al, 2004" "M" "" "Turkey" "" "0" "" "" "" "" "00184769" "" "" "" "1" "" "01815" "{PMID:Akiyama 2013:23846910}" "" "" "" "Japan" "" "0" "" "" "" "" "00184770" "" "" "" "1" "" "01815" "{PMID:Viau 2013:24071436}" "Patient no 1 in Viau et al, 2013" "F" "" "" "" "0" "" "" "" "" "00184771" "" "" "" "1" "" "01815" "{PMID:Viau 2013:24071436}" "Patient no 2 in Viau et al, 2013" "F" "" "" "" "0" "" "" "" "" "00184772" "" "" "" "1" "" "01815" "{PMID:Viau 2013:24071436}" "Patient no 5 in Viau et al, 2013" "M" "" "" "" "0" "" "" "" "" "00184773" "" "" "" "1" "" "01815" "{PMID:Viau 2013:24071436}" "Patient no 3 in Viau et al, 2013" "M" "" "" "" "0" "" "" "" "" "00184774" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "" "" "France" "" "0" "" "" "" "" "00184775" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "" "" "France" "" "0" "" "" "" "" "00184776" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "M" "" "France" "" "0" "" "" "" "" "00184777" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "F" "" "France" "" "0" "" "" "" "" "00184778" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "M" "" "France" "" "0" "" "" "" "" "00184779" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "" "" "France" "" "0" "" "" "" "" "00184780" "" "" "" "1" "" "01815" "{PMID23583224:El-Gharbawy 2013" "Subject no 1 in El-Gharbawy et al, 2013" "" "" "" "" "0" "" "" "" "" "00184781" "" "" "" "1" "" "01815" "{PMID23583224:El-Gharbawy 2013" "Subject no 4 in El-Gharbawy et al, 2013" "" "" "" "" "0" "" "" "" "" "00184782" "" "" "" "1" "" "01815" "{PMID23583224:El-Gharbawy 2013" "Parent of subject no 1 in El-Gharbawy et al, 2013" "" "" "" "" "0" "" "" "" "" "00184783" "" "" "" "1" "" "01815" "{PMID23583224:El-Gharbawy 2013" "Subject 2 in El-Gharbawy et al, 2013" "" "" "" "" "0" "" "" "" "" "00184784" "" "" "" "1" "" "01815" "{PMID23583224:El-Gharbawy 2013" "Subject 3 in El-Gharbawy et al, 2013" "" "" "" "" "0" "" "" "" "" "00184785" "" "" "" "1" "" "01815" "{PMID:Dhar 2009:19027335}" "Patient no 1 in Dhar et al, 2009" "F" "" "" "" "0" "" "" "" "" "00184786" "" "" "" "1" "" "01815" "{PMID:Dhar 2009:19027335}" "Patient no 2 in Dhar et al, 2009" "F" "" "" "" "0" "" "" "" "" "00184787" "" "" "" "1" "" "01815" "{PMID:Dhar 2009:19027335}" "Patient no 3 in Dhar et al, 2009" "M" "" "" "" "0" "" "" "" "" "00184788" "" "" "" "1" "" "01815" "{PMID:Dhar 2009:19027335}" "Patient no 4 in Dhar et al, 2009" "M" "" "" "" "0" "" "" "" "" "00184789" "" "" "" "1" "" "01815" "{PMID:Dhar 2009:19027335}" "Patient no 5 in Dhar et al, 2009" "M" "" "" "" "0" "" "" "" "" "00184790" "" "" "" "1" "" "01815" "{PMID:Dhar 2009:19027335}" "Patient no 6 in Dhar et al, 2009" "F" "" "" "" "0" "" "" "" "" "00184791" "" "" "" "1" "" "01815" "{PMID:Dhar 2009:19027335}" "Patient no 7 in Dhar et al, 2009" "M" "" "" "" "0" "" "" "" "" "00184792" "" "" "" "1" "" "01815" "{PMID23660394:Comeaux 2013" "Patient B2 in Comeaux et al, 2013" "M" "" "" "" "0" "" "" "" "" "00184793" "" "" "" "1" "" "01815" "{PMID23660394:Comeaux 2013" "Patient B12 in Comeaux et al, 2013" "M" "" "" "" "0" "" "" "" "" "00184794" "" "" "" "1" "" "01815" "{PMID23660394:Comeaux 2013" "Patient B13 in Comeaux et al, 2013" "M" "" "" "" "0" "" "" "" "" "00184795" "" "" "" "1" "" "01815" "Mahmutoglu et al, in preparation" "Patient from Lund/ Christensen" "F" "" "Denmark" "" "0" "" "" "" "" "00184796" "" "" "" "1" "" "01815" "{PMID:Leuzzi 2006:16293431}" "" "F" "" "" "" "0" "" "" "" "" "00184797" "" "" "" "1" "" "01815" "{PMID:Sempere 2009:19892372}" "" "" "" "Spain" "" "0" "" "" "" "" "00184798" "" "" "" "1" "" "01815" "{PMID:Carducci 2000:11136556}" "" "M" "" "" "" "0" "" "" "" "" "00184799" "" "" "" "1" "" "01815" "{PMID:Carducci 2000:11136556}" "" "F" "" "" "" "0" "" "" "" "" "00184800" "" "" "" "1" "" "01815" "{PMID:Carducci 2000:11136556}" "" "M" "" "" "" "0" "" "" "" "" "00184801" "" "" "" "1" "" "01815" "{PMID:Bodamer 2009:19255414}" "" "" "" "" "" "0" "" "" "" "" "00184802" "" "" "" "1" "" "01815" "{PMID:Bodamer 2009:19255414}" "" "F" "" "" "" "0" "" "" "" "" "00184803" "" "" "" "1" "" "01815" "{PMID:Bodamer 2009:19255414}" "" "M" "" "" "" "0" "" "" "" "" "00184804" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184805" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184806" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "" "F" "" "Israel" "" "0" "" "" "" "" "00184807" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108290}" "" "M" "" "Israel" "" "0" "" "" "" "" "00184808" "" "" "" "1" "" "01815" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184809" "" "" "" "1" "" "01815" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184810" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184819" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184820" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184821" "" "" "" "1" "" "01815" "{PMID:Item 2004:15108209}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00184822" "" "" "" "1" "" "01815" "{PMID:Carducci 2000:11136556}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184823" "" "" "" "1" "" "01815" "{PMID:Carducci 2000:11136556}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184824" "" "" "" "1" "" "01815" "{PMID:Carducci 2000:11136556}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00184825" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184826" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00184827" "" "" "" "1" "" "01815" "{PMID:Cheillan 2012:23234264}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00292049" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374321" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4990" "00387854" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8900204" "00387859" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8900225" "00390069" "" "" "" "1" "" "00006" "{PMID:Kritioti 2021:34324503}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Cyprus" "" "0" "" "" "Greece" "Pat16" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 172 "{{individualid}}" "{{diseaseid}}" "00080978" "03186" "00184633" "03186" "00184634" "03186" "00184635" "00000" "00184636" "00000" "00184637" "03186" "00184638" "03186" "00184639" "03186" "00184640" "00000" "00184641" "00000" "00184642" "03186" "00184643" "03186" "00184647" "03186" "00184648" "03186" "00184649" "00000" "00184650" "00000" "00184651" "03186" "00184653" "03186" "00184654" "00000" "00184655" "00000" "00184660" "03186" "00184661" "03186" "00184662" "03186" "00184663" "00000" "00184664" "00000" "00184665" "03186" "00184666" "03186" "00184667" "00000" "00184668" "03186" "00184669" "03186" "00184670" "00000" "00184671" "00000" "00184672" "03186" "00184673" "03186" "00184674" "00000" "00184675" "00000" "00184676" "03186" "00184677" "03186" "00184679" "00000" "00184680" "03186" "00184681" "03186" "00184682" "00000" "00184683" "00000" "00184684" "03186" "00184685" "03186" "00184686" "00000" "00184687" "00000" "00184688" "00000" "00184689" "03186" "00184690" "03186" "00184693" "00000" "00184696" "00000" "00184697" "03186" "00184698" "03186" "00184699" "00000" "00184700" "00000" "00184701" "03186" "00184702" "00000" "00184703" "00000" "00184704" "03186" "00184705" "03186" "00184706" "00000" "00184707" "00000" "00184708" "03186" "00184709" "00000" "00184710" "03186" "00184711" "00000" "00184712" "00000" "00184713" "03186" "00184714" "03186" "00184715" "00000" "00184717" "03186" "00184718" "00000" "00184719" "00000" "00184722" "03186" "00184723" "00000" "00184724" "03186" "00184725" "03186" "00184726" "03186" "00184727" "03186" "00184728" "03186" "00184729" "03186" "00184730" "00000" "00184731" "00000" "00184732" "03186" "00184733" "03186" "00184734" "03186" "00184735" "00000" "00184736" "00000" "00184737" "03186" "00184738" "03186" "00184739" "03186" "00184740" "03186" "00184746" "03186" "00184747" "03186" "00184748" "00000" "00184749" "00000" "00184750" "03186" "00184751" "00000" "00184752" "00000" "00184753" "03186" "00184754" "03186" "00184755" "00000" "00184756" "00000" "00184757" "03186" "00184758" "00000" "00184759" "00000" "00184760" "03186" "00184761" "00000" "00184762" "00000" "00184763" "03186" "00184764" "00000" "00184765" "00000" "00184766" "03186" "00184767" "00000" "00184768" "00000" "00184769" "03186" "00184770" "03186" "00184771" "03186" "00184772" "03186" "00184773" "03186" "00184774" "03186" "00184775" "03186" "00184776" "03186" "00184777" "00000" "00184778" "00000" "00184779" "03186" "00184780" "03186" "00184781" "00000" "00184782" "00000" "00184783" "03186" "00184784" "03186" "00184785" "03186" "00184786" "03186" "00184787" "03186" "00184788" "03186" "00184789" "03186" "00184790" "03186" "00184791" "03186" "00184792" "03186" "00184793" "03186" "00184794" "03186" "00184795" "03186" "00184796" "03186" "00184797" "03186" "00184798" "03186" "00184799" "00000" "00184800" "00000" "00184801" "03186" "00184802" "00000" "00184803" "00000" "00184804" "03186" "00184805" "03186" "00184806" "00000" "00184807" "00000" "00184808" "03186" "00184809" "00000" "00184810" "00000" "00184819" "03186" "00184820" "03186" "00184821" "03186" "00184822" "03186" "00184823" "03186" "00184824" "03186" "00184825" "03186" "00184826" "03186" "00184827" "03186" "00292049" "00198" "00374321" "00198" "00387854" "00139" "00387859" "00139" "00390069" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 03185, 03186 ## Count = 171 "{{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}}" "0000060547" "03186" "00080978" "01758" "Familial, autosomal recessive" "" "Cerebral creatine deficiency syndrome 2 (OMIM:612736)" "" "" "" "" "" "" "" "" "" "" "" "0000144763" "03186" "00184633" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144764" "03186" "00184634" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144765" "00000" "00184635" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144766" "00000" "00184636" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144767" "03186" "00184637" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144768" "03186" "00184638" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144769" "03186" "00184639" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144770" "00000" "00184640" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144771" "00000" "00184641" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144772" "03186" "00184642" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144773" "03186" "00184643" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144777" "03186" "00184647" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144778" "03186" "00184648" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144779" "00000" "00184649" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144780" "00000" "00184650" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144781" "03186" "00184651" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144783" "03186" "00184653" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144784" "00000" "00184654" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144785" "00000" "00184655" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144790" "03186" "00184660" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144791" "03186" "00184661" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144792" "03186" "00184662" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144793" "00000" "00184663" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144794" "00000" "00184664" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144795" "03186" "00184665" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144796" "03186" "00184666" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144797" "00000" "00184667" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144798" "03186" "00184668" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144799" "03186" "00184669" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144800" "00000" "00184670" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144801" "00000" "00184671" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144802" "03186" "00184672" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144803" "03186" "00184673" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144804" "00000" "00184674" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144805" "00000" "00184675" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144806" "03186" "00184676" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144807" "03186" "00184677" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144809" "00000" "00184679" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144810" "03186" "00184680" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144811" "03186" "00184681" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144812" "00000" "00184682" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144813" "00000" "00184683" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144814" "03186" "00184684" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144815" "03186" "00184685" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144816" "00000" "00184686" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144817" "00000" "00184687" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144818" "00000" "00184688" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144819" "03186" "00184689" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144820" "03186" "00184690" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144823" "00000" "00184693" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144826" "00000" "00184696" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144827" "03186" "00184697" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144828" "03186" "00184698" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144829" "00000" "00184699" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144830" "00000" "00184700" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144831" "03186" "00184701" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144832" "00000" "00184702" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144833" "00000" "00184703" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144834" "03186" "00184704" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144835" "03186" "00184705" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144836" "00000" "00184706" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144837" "00000" "00184707" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144838" "03186" "00184708" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144839" "00000" "00184709" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144840" "03186" "00184710" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144841" "00000" "00184711" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144842" "00000" "00184712" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144843" "03186" "00184713" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144844" "03186" "00184714" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144845" "00000" "00184715" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144847" "03186" "00184717" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144848" "00000" "00184718" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144849" "00000" "00184719" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144852" "03186" "00184722" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144853" "00000" "00184723" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144854" "03186" "00184724" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144855" "03186" "00184725" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144856" "03186" "00184726" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144857" "03186" "00184727" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144858" "03186" "00184728" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144859" "03186" "00184729" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144860" "00000" "00184730" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144861" "00000" "00184731" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144862" "03186" "00184732" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144863" "03186" "00184733" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144864" "03186" "00184734" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144865" "00000" "00184735" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144866" "00000" "00184736" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144867" "03186" "00184737" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144868" "03186" "00184738" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144869" "03186" "00184739" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144870" "03186" "00184740" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144876" "03186" "00184746" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144877" "03186" "00184747" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144878" "00000" "00184748" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144879" "00000" "00184749" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144880" "03186" "00184750" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144881" "00000" "00184751" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144882" "00000" "00184752" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144883" "03186" "00184753" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144884" "03186" "00184754" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144885" "00000" "00184755" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144886" "00000" "00184756" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144887" "03186" "00184757" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144888" "00000" "00184758" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144889" "00000" "00184759" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144890" "03186" "00184760" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144891" "00000" "00184761" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144892" "00000" "00184762" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144893" "03186" "00184763" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144894" "00000" "00184764" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144895" "00000" "00184765" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144896" "03186" "00184766" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144897" "00000" "00184767" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144898" "00000" "00184768" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144899" "03186" "00184769" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144900" "03186" "00184770" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144901" "03186" "00184771" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144902" "03186" "00184772" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144903" "03186" "00184773" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144904" "03186" "00184774" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144905" "03186" "00184775" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144906" "03186" "00184776" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144907" "00000" "00184777" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144908" "00000" "00184778" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144909" "03186" "00184779" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144910" "03186" "00184780" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144911" "00000" "00184781" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144912" "00000" "00184782" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144913" "03186" "00184783" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144914" "03186" "00184784" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144915" "03186" "00184785" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144916" "03186" "00184786" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144917" "03186" "00184787" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144918" "03186" "00184788" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144919" "03186" "00184789" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144920" "03186" "00184790" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144921" "03186" "00184791" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144922" "03186" "00184792" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144923" "03186" "00184793" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144924" "03186" "00184794" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144925" "03186" "00184795" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144926" "03186" "00184796" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144927" "03186" "00184797" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144928" "03186" "00184798" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144929" "00000" "00184799" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144930" "00000" "00184800" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144931" "03186" "00184801" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144932" "00000" "00184802" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144933" "00000" "00184803" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144934" "03186" "00184804" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144935" "03186" "00184805" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144936" "00000" "00184806" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144937" "00000" "00184807" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144938" "03186" "00184808" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144939" "00000" "00184809" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144940" "00000" "00184810" "01815" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144949" "03186" "00184819" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144950" "03186" "00184820" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144951" "03186" "00184821" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144952" "03186" "00184822" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144953" "03186" "00184823" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144954" "03186" "00184824" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144955" "03186" "00184825" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144956" "03186" "00184826" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000144957" "03186" "00184827" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCDS-2" "GAMT deficiency" "" "0000269531" "00198" "00374321" "00006" "Familial, autosomal recessive" "" "Milestone regression" "" "" "" "" "" "" "" "" "" "Krabbe disease" "" "0000281422" "00139" "00387854" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281427" "00139" "00387859" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000283608" "00198" "00390069" "00006" "Familial, autosomal recessive" "44y" "Severe intellectual disability, absent speech, epileptic encephalopathy, coarse facial features, asymmetric skull, macroglossia, hand biting, stereotypies" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 172 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081090" "00080978" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000185600" "00184633" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185601" "00184634" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185602" "00184635" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185603" "00184636" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185604" "00184637" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185605" "00184638" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185606" "00184639" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185607" "00184640" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185608" "00184641" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185609" "00184642" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185610" "00184643" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185614" "00184647" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185615" "00184648" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185616" "00184649" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185617" "00184650" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185618" "00184651" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185620" "00184653" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185621" "00184654" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185622" "00184655" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185627" "00184660" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185628" "00184661" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185629" "00184662" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185630" "00184663" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185631" "00184664" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185632" "00184665" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185633" "00184666" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185634" "00184667" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185635" "00184668" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185636" "00184669" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185637" "00184670" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185638" "00184671" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185639" "00184672" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185640" "00184673" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185641" "00184674" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185642" "00184675" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185643" "00184676" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185644" "00184677" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185646" "00184679" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185647" "00184680" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185648" "00184681" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185649" "00184682" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185650" "00184683" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185651" "00184684" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185652" "00184685" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185653" "00184686" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185654" "00184687" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185655" "00184688" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185656" "00184689" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185657" "00184690" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185660" "00184693" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185663" "00184696" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185664" "00184697" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185665" "00184698" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185666" "00184699" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185667" "00184700" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185668" "00184701" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185669" "00184702" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185670" "00184703" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185671" "00184704" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185672" "00184705" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185673" "00184706" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185674" "00184707" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185675" "00184708" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185676" "00184709" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185677" "00184710" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185678" "00184711" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185679" "00184712" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185680" "00184713" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185681" "00184714" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185682" "00184715" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185684" "00184717" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185685" "00184718" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185686" "00184719" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185689" "00184722" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185690" "00184723" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185691" "00184724" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185692" "00184725" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185693" "00184726" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185694" "00184727" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185695" "00184728" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185696" "00184729" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185697" "00184730" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185698" "00184731" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185699" "00184732" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185700" "00184733" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185701" "00184734" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185702" "00184735" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185703" "00184736" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185704" "00184737" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185705" "00184738" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185706" "00184739" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185707" "00184740" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185713" "00184746" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185714" "00184747" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185715" "00184748" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185716" "00184749" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185717" "00184750" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000185718" "00184751" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185719" "00184752" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185720" "00184753" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185721" "00184754" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185722" "00184755" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185723" "00184756" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185724" "00184757" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185725" "00184758" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185726" "00184759" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185727" "00184760" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185728" "00184761" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185729" "00184762" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185730" "00184763" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185731" "00184764" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185732" "00184765" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185733" "00184766" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185734" "00184767" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185735" "00184768" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185736" "00184769" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA;RNA" "" "" "0000185737" "00184770" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185738" "00184771" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185739" "00184772" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185740" "00184773" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185741" "00184774" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185742" "00184775" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185743" "00184776" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185744" "00184777" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185745" "00184778" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185746" "00184779" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185747" "00184780" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185748" "00184781" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185749" "00184782" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185750" "00184783" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185751" "00184784" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185752" "00184785" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185753" "00184786" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185754" "00184787" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185755" "00184788" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185756" "00184789" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185757" "00184790" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185758" "00184791" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185759" "00184792" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185760" "00184793" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185761" "00184794" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185762" "00184795" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185763" "00184796" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185764" "00184797" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185765" "00184798" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185766" "00184799" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185767" "00184800" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185768" "00184801" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185769" "00184802" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185770" "00184803" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185771" "00184804" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185772" "00184805" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185773" "00184806" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185774" "00184807" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185775" "00184808" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185776" "00184809" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185777" "00184810" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185786" "00184819" "1" "01815" "01815" "2016-01-05 14:33:53" "" "" "SEQ" "DNA" "" "" "0000185787" "00184820" "1" "01815" "01815" "2016-05-02 14:33:34" "" "" "SEQ" "DNA" "" "" "0000185788" "00184821" "1" "01815" "01815" "2016-05-02 14:33:34" "" "" "SEQ" "DNA" "" "" "0000185789" "00184822" "1" "01815" "01815" "2016-05-02 14:33:34" "" "" "SEQ" "DNA" "" "" "0000185790" "00184823" "1" "01815" "01815" "2016-05-02 14:33:34" "" "" "SEQ" "DNA" "" "" "0000185791" "00184824" "1" "01815" "01815" "2016-05-02 14:33:34" "" "" "SEQ" "DNA" "" "" "0000185792" "00184825" "1" "01815" "01815" "2016-09-16 14:22:17" "" "" "SEQ" "DNA" "" "" "0000185793" "00184826" "1" "01815" "01815" "2016-09-16 14:22:17" "" "" "SEQ" "DNA" "" "" "0000185794" "00184827" "1" "01815" "01815" "2016-09-16 14:22:17" "" "" "SEQ" "DNA" "" "" "0000293217" "00292049" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375515" "00374321" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389085" "00387854" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389090" "00387859" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000391310" "00390069" "1" "00006" "00006" "2021-11-09 16:34:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 170 "{{screeningid}}" "{{geneid}}" "0000081090" "GAMT" "0000185600" "GAMT" "0000185601" "GAMT" "0000185602" "GAMT" "0000185603" "GAMT" "0000185604" "GAMT" "0000185605" "GAMT" "0000185606" "GAMT" "0000185607" "GAMT" "0000185608" "GAMT" "0000185609" "GAMT" "0000185610" "GAMT" "0000185614" "GAMT" "0000185615" "GAMT" "0000185616" "GAMT" "0000185617" "GAMT" "0000185618" "GAMT" "0000185620" "GAMT" "0000185621" "GAMT" "0000185622" "GAMT" "0000185627" "GAMT" "0000185628" "GAMT" "0000185629" "GAMT" "0000185630" "GAMT" "0000185631" "GAMT" "0000185632" "GAMT" "0000185633" "GAMT" "0000185634" "GAMT" "0000185635" "GAMT" "0000185636" "GAMT" "0000185637" "GAMT" "0000185638" "GAMT" "0000185639" "GAMT" "0000185640" "GAMT" "0000185641" "GAMT" "0000185642" "GAMT" "0000185643" "GAMT" "0000185644" "GAMT" "0000185646" "GAMT" "0000185647" "GAMT" "0000185648" "GAMT" "0000185649" "GAMT" "0000185650" "GAMT" "0000185651" "GAMT" "0000185652" "GAMT" "0000185653" "GAMT" "0000185654" "GAMT" "0000185655" "GAMT" "0000185656" "GAMT" "0000185657" "GAMT" "0000185660" "GAMT" "0000185663" "GAMT" "0000185664" "GAMT" "0000185665" "GAMT" "0000185666" "GAMT" "0000185667" "GAMT" "0000185668" "GAMT" "0000185669" "GAMT" "0000185670" "GAMT" "0000185671" "GAMT" "0000185672" "GAMT" "0000185673" "GAMT" "0000185674" "GAMT" "0000185675" "GAMT" "0000185676" "GAMT" "0000185677" "GAMT" "0000185678" "GAMT" "0000185679" "GAMT" "0000185680" "GAMT" "0000185681" "GAMT" "0000185682" "GAMT" "0000185684" "GAMT" "0000185685" "GAMT" "0000185686" "GAMT" "0000185689" "GAMT" "0000185690" "GAMT" "0000185691" "GAMT" "0000185692" "GAMT" "0000185693" "GAMT" "0000185694" "GAMT" "0000185695" "GAMT" "0000185696" "GAMT" "0000185697" "GAMT" "0000185698" "GAMT" "0000185699" "GAMT" "0000185700" "GAMT" "0000185701" "GAMT" "0000185702" "GAMT" "0000185703" "GAMT" "0000185704" "GAMT" "0000185705" "GAMT" "0000185706" "GAMT" "0000185707" "GAMT" "0000185713" "GAMT" "0000185714" "GAMT" "0000185715" "GAMT" "0000185716" "GAMT" "0000185717" "GAMT" "0000185718" "GAMT" "0000185719" "GAMT" "0000185720" "GAMT" "0000185721" "GAMT" "0000185722" "GAMT" "0000185723" "GAMT" "0000185724" "GAMT" "0000185725" "GAMT" "0000185726" "GAMT" "0000185727" "GAMT" "0000185728" "GAMT" "0000185729" "GAMT" "0000185730" "GAMT" "0000185731" "GAMT" "0000185732" "GAMT" "0000185733" "GAMT" "0000185734" "GAMT" "0000185735" "GAMT" "0000185736" "GAMT" "0000185737" "GAMT" "0000185738" "GAMT" "0000185739" "GAMT" "0000185740" "GAMT" "0000185741" "GAMT" "0000185742" "GAMT" "0000185743" "GAMT" "0000185744" "GAMT" "0000185745" "GAMT" "0000185746" "GAMT" "0000185747" "GAMT" "0000185748" "GAMT" "0000185749" "GAMT" "0000185750" "GAMT" "0000185751" "GAMT" "0000185752" "GAMT" "0000185753" "GAMT" "0000185754" "GAMT" "0000185755" "GAMT" "0000185756" "GAMT" "0000185757" "GAMT" "0000185758" "GAMT" "0000185759" "GAMT" "0000185760" "GAMT" "0000185761" "GAMT" "0000185762" "GAMT" "0000185763" "GAMT" "0000185764" "GAMT" "0000185765" "GAMT" "0000185766" "GAMT" "0000185767" "GAMT" "0000185768" "GAMT" "0000185769" "GAMT" "0000185770" "GAMT" "0000185771" "GAMT" "0000185772" "GAMT" "0000185773" "GAMT" "0000185774" "GAMT" "0000185775" "GAMT" "0000185776" "GAMT" "0000185777" "GAMT" "0000185786" "GAMT" "0000185787" "GAMT" "0000185788" "GAMT" "0000185789" "GAMT" "0000185790" "GAMT" "0000185791" "GAMT" "0000185792" "GAMT" "0000185793" "GAMT" "0000185794" "GAMT" "0000375515" "GALC" "0000389085" "GAMT" "0000389090" "GAMT" ## 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 = 323 "{{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}}" "0000130176" "3" "70" "19" "1397461" "1397461" "dup" "0" "01758" "GAMT_012060" "g.1397461dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.1397462dup" "" "likely pathogenic" "" "0000276948" "0" "10" "19" "1397504" "1397504" "subst" "0.076137" "02330" "GAMT_012021" "g.1397504C>T" "" "" "" "GAMT(NM_000156.6):c.571-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1397505C>T" "" "benign" "" "0000276949" "0" "10" "19" "1397443" "1397443" "subst" "0.0766035" "02330" "GAMT_012061" "g.1397443G>A" "" "" "" "GAMT(NM_000156.6):c.626C>T (p.T209M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1397444G>A" "" "benign" "" "0000284579" "0" "30" "19" "1399239" "1399239" "subst" "0.00197315" "02326" "GAMT_012065" "g.1399239G>A" "" "" "" "GAMT(NM_000156.6):c.392-45C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1399240G>A" "" "likely benign" "" "0000284580" "0" "10" "19" "1399200" "1399200" "subst" "0" "02326" "GAMT_012064" "g.1399200C>G" "" "" "" "GAMT(NM_000156.6):c.392-6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1399201C>G" "" "benign" "" "0000288205" "0" "50" "19" "1399792" "1399792" "subst" "0.000192282" "01943" "GAMT_012004" "g.1399792C>T" "" "" "" "GAMT(NM_138924.2):c.327G>A (p.K109=), GAMT(NM_138924.3):c.327G>A (p.K109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1399793C>T" "" "VUS" "" "0000288206" "0" "50" "19" "1398976" "1398976" "subst" "4.06455E-6" "01943" "GAMT_012063" "g.1398976T>C" "" "" "" "GAMT(NM_000156.6):c.509A>G (p.(Asn170Ser)), GAMT(NM_138924.2):c.509A>G (p.N170S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1398977T>C" "" "VUS" "" "0000296387" "0" "50" "19" "1395503" "1395503" "subst" "0.000116721" "02325" "NDUFS7_000011" "g.1395503C>T" "" "" "" "NDUFS7(NM_024407.5):c.*16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1395504C>T" "" "VUS" "" "0000326039" "0" "30" "19" "1399879" "1399879" "subst" "0" "01804" "GAMT_012067" "g.1399879C>G" "" "" "" "GAMT(NM_000156.5):c.240G>C (p.(Glu80Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1399880C>G" "" "likely benign" "" "0000326040" "0" "50" "19" "1401394" "1401394" "subst" "0" "01804" "GAMT_012068" "g.1401394C>G" "" "" "" "GAMT(NM_000156.5):c.82G>C (p.(Asp28His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1401395C>G" "" "VUS" "" "0000411115" "1" "99" "19" "1399729" "1399879" "del" "0" "01815" "GAMT_012042" "g.1399729_1399879del" "" "{PMID:Mercimek-Mahmutoglu 2006:16855203}" "" "g.1637_1787del" "" "Germline" "" "" "0" "" "" "g.1399730_1399880del" "" "pathogenic (recessive)" "" "0000411116" "2" "99" "19" "1399729" "1399879" "del" "0" "01815" "GAMT_012042" "g.1399729_1399879del" "" "{PMID:Mercimek-Mahmutoglu 2006:16855203}" "" "g.1637_1787del" "" "Germline" "" "" "0" "" "" "g.1399730_1399880del" "" "pathogenic (recessive)" "" "0000411117" "1" "11" "19" "1401454" "1401454" "subst" "0.000144669" "01815" "GAMT_012043" "g.1401454G>T" "" "Mahmutoglu et al, in preparation" "" "" "rare variant not associated with GAMT deficiency (overexpression does not restore GAMT activity)" "Germline" "" "" "0" "" "" "g.1401455G>T" "" "benign" "" "0000411118" "1" "99" "19" "1401324" "1401324" "subst" "0" "01815" "GAMT_012002" "g.1401324T>G" "" "{PMID:Item 2004:15108290}" "" "" "" "Germline" "" "" "0" "" "" "g.1401325T>G" "" "pathogenic (recessive)" "" "0000411119" "1" "99" "19" "1401324" "1401324" "subst" "0" "01815" "GAMT_012002" "g.1401324T>G" "" "{PMID:Item 2004:15108290}" "" "" "" "Germline" "" "" "0" "" "" "g.1401325T>G" "" "pathogenic (recessive)" "" "0000411120" "1" "99" "19" "1401324" "1401324" "subst" "0" "01815" "GAMT_012002" "g.1401324T>G" "" "{PMID:Item 2004:15108290}" "" "" "" "Germline" "" "" "0" "" "" "g.1401325T>G" "" "pathogenic (recessive)" "" "0000411121" "2" "99" "19" "1399183" "1399183" "subst" "1.21913E-5" "01815" "GAMT_012006" "g.1399183C>T" "" "{PMID:O\'Rourke 2009:19388150}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399184C>T" "" "pathogenic (recessive)" "" "0000411122" "1" "99" "19" "1399183" "1399183" "subst" "1.21913E-5" "01815" "GAMT_012006" "g.1399183C>T" "" "{PMID:O\'Rourke 2009:19388150}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399184C>T" "" "pathogenic (recessive)" "" "0000411123" "1" "99" "19" "1399899" "1399899" "subst" "0" "01815" "GAMT_012007" "g.1399899C>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399900C>G" "" "pathogenic (recessive)" "" "0000411124" "1" "99" "19" "1397446" "1397446" "subst" "0" "01815" "GAMT_012008" "g.1397446C>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1397447C>G" "" "pathogenic (recessive)" "" "0000411125" "2" "99" "19" "1397446" "1397446" "subst" "0" "01815" "GAMT_012008" "g.1397446C>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1397447C>G" "" "pathogenic (recessive)" "" "0000411126" "1" "99" "19" "1397446" "1397446" "subst" "0" "01815" "GAMT_012008" "g.1397446C>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1397447C>G" "" "pathogenic (recessive)" "" "0000411127" "1" "99" "19" "1397446" "1397446" "subst" "0" "01815" "GAMT_012008" "g.1397446C>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1397447C>G" "" "pathogenic (recessive)" "" "0000411128" "1" "99" "19" "1398988" "1398988" "subst" "4.06458E-6" "01815" "GAMT_012012" "g.1398988A>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1398989A>G" "" "pathogenic (recessive)" "" "0000411129" "2" "99" "19" "1398988" "1398988" "subst" "4.06458E-6" "01815" "GAMT_012012" "g.1398988A>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1398989A>G" "" "pathogenic (recessive)" "" "0000411130" "1" "99" "19" "1398988" "1398988" "subst" "4.06458E-6" "01815" "GAMT_012012" "g.1398988A>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1398989A>G" "" "pathogenic (recessive)" "" "0000411131" "1" "99" "19" "1398988" "1398988" "subst" "4.06458E-6" "01815" "GAMT_012012" "g.1398988A>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1398989A>G" "" "pathogenic (recessive)" "" "0000411132" "1" "99" "19" "1398979" "1398979" "subst" "1.62591E-5" "01815" "GAMT_012014" "g.1398979C>T" "" "{PMID:Caldeira Araujo 2005:15651030}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1398980C>T" "" "pathogenic (recessive)" "" "0000411133" "2" "99" "19" "1398979" "1398979" "subst" "1.62591E-5" "01815" "GAMT_012014" "g.1398979C>T" "" "{PMID:Caldeira Araujo 2005:15651030}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1398980C>T" "" "pathogenic (recessive)" "" "0000411134" "1" "99" "19" "1401328" "1401328" "subst" "0" "01815" "GAMT_012017" "g.1401328T>G" "" "{PMID:Mercimek-Mahmutoglu 2006:16855203}" "" "" "" "Germline" "" "" "0" "" "" "g.1401329T>G" "" "pathogenic (recessive)" "" "0000411135" "2" "99" "19" "1401328" "1401328" "subst" "0" "01815" "GAMT_012017" "g.1401328T>G" "" "{PMID:Mercimek-Mahmutoglu 2006:16855203}" "" "" "" "Germline" "" "" "0" "" "" "g.1401329T>G" "" "pathogenic (recessive)" "" "0000411136" "1" "99" "19" "1401328" "1401328" "subst" "0" "01815" "GAMT_012017" "g.1401328T>G" "" "{PMID:Mercimek-Mahmutoglu 2006:16855203}" "" "" "" "Germline" "" "" "0" "" "" "g.1401329T>G" "" "pathogenic (recessive)" "" "0000411137" "1" "99" "19" "1401328" "1401328" "subst" "0" "01815" "GAMT_012017" "g.1401328T>G" "" "{PMID:Mercimek-Mahmutoglu 2006:16855203}" "" "" "" "Germline" "" "" "0" "" "" "g.1401329T>G" "" "pathogenic (recessive)" "" "0000411138" "2" "99" "19" "1397479" "1397479" "subst" "0" "01815" "GAMT_012024" "g.1397479A>G" "" "{PMID:Leuzzi 2006:16293431}" "" "" "" "Germline" "" "" "0" "" "" "g.1397480A>G" "" "pathogenic (recessive)" "" "0000411139" "1" "99" "19" "1397479" "1397479" "subst" "0" "01815" "GAMT_012024" "g.1397479A>G" "" "{PMID:Leuzzi 2006:16293431}" "" "" "" "Germline" "" "" "0" "" "" "g.1397480A>G" "" "pathogenic (recessive)" "" "0000411140" "1" "99" "19" "1399917" "1399917" "subst" "0" "01815" "GAMT_012040" "g.1399917C>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399918C>A" "" "pathogenic (recessive)" "" "0000411141" "2" "99" "19" "1399917" "1399917" "subst" "0" "01815" "GAMT_012040" "g.1399917C>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399918C>A" "" "pathogenic (recessive)" "" "0000411142" "2" "99" "19" "1399183" "1399183" "subst" "1.21913E-5" "01815" "GAMT_012006" "g.1399183C>T" "" "{PMID:O\'Rourke 2009:19388150}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399184C>T" "" "pathogenic (recessive)" "" "0000411143" "2" "99" "19" "1399183" "1399183" "subst" "1.21913E-5" "01815" "GAMT_012006" "g.1399183C>T" "" "{PMID:O\'Rourke 2009:19388150}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399184C>T" "" "pathogenic (recessive)" "" "0000411144" "1" "99" "19" "1399183" "1399183" "subst" "1.21913E-5" "01815" "GAMT_012006" "g.1399183C>T" "" "{PMID:O\'Rourke 2009:19388150}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399184C>T" "" "pathogenic (recessive)" "" "0000411145" "1" "99" "19" "1399845" "1399845" "subst" "0" "01815" "GAMT_012025" "g.1399845T>C" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399846T>C" "" "pathogenic (recessive)" "" "0000411146" "2" "99" "19" "1399845" "1399845" "subst" "0" "01815" "GAMT_012025" "g.1399845T>C" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399846T>C" "" "pathogenic (recessive)" "" "0000411147" "1" "99" "19" "1401343" "1401343" "subst" "2.49841E-5" "01815" "GAMT_012026" "g.1401343A>T" "" "{PMID:Comeaux 2013:23660394}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1401344A>T" "" "pathogenic (recessive)" "" "0000411148" "1" "99" "19" "1401343" "1401343" "subst" "2.49841E-5" "01815" "GAMT_012026" "g.1401343A>T" "" "{PMID:Comeaux 2013:23660394}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1401344A>T" "" "pathogenic (recessive)" "" "0000411149" "1" "99" "19" "1401343" "1401343" "subst" "2.49841E-5" "01815" "GAMT_012026" "g.1401343A>T" "" "{PMID:Comeaux 2013:23660394}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1401344A>T" "" "pathogenic (recessive)" "" "0000411150" "1" "99" "19" "1401343" "1401343" "subst" "2.49841E-5" "01815" "GAMT_012026" "g.1401343A>T" "" "{PMID:Comeaux 2013:23660394}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1401344A>T" "" "pathogenic (recessive)" "" "0000411151" "1" "99" "19" "1399895" "1399895" "subst" "2.55054E-5" "01815" "GAMT_012030" "g.1399895G>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399896G>A" "" "pathogenic (recessive)" "" "0000411152" "2" "99" "19" "1399895" "1399895" "subst" "2.55054E-5" "01815" "GAMT_012030" "g.1399895G>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399896G>A" "" "pathogenic (recessive)" "" "0000411153" "1" "99" "19" "1399895" "1399895" "subst" "2.55054E-5" "01815" "GAMT_012030" "g.1399895G>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399896G>A" "" "pathogenic (recessive)" "" "0000411154" "1" "99" "19" "1399895" "1399895" "subst" "2.55054E-5" "01815" "GAMT_012030" "g.1399895G>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399896G>A" "" "pathogenic (recessive)" "" "0000411155" "1" "99" "19" "1398979" "1398979" "subst" "1.62591E-5" "01815" "GAMT_012014" "g.1398979C>T" "" "{PMID:Caldeira Araujo 2005:15651030}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1398980C>T" "" "pathogenic (recessive)" "" "0000411156" "2" "99" "19" "1398979" "1398979" "subst" "1.62591E-5" "01815" "GAMT_012014" "g.1398979C>T" "" "{PMID:Caldeira Araujo 2005:15651030}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1398980C>T" "" "pathogenic (recessive)" "" "0000411157" "2" "99" "19" "1399179" "1399179" "subst" "4.06326E-6" "01815" "GAMT_012034" "g.1399179G>A" "" "{PMID:Sempere 2009:19892372}" "" "" "" "Germline" "" "" "0" "" "" "g.1399180G>A" "" "pathogenic (recessive)" "" "0000411158" "1" "99" "19" "1399899" "1399899" "subst" "0" "01815" "GAMT_012007" "g.1399899C>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399900C>G" "" "pathogenic (recessive)" "" "0000411159" "2" "99" "19" "1399899" "1399899" "subst" "0" "01815" "GAMT_012007" "g.1399899C>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399900C>G" "" "pathogenic (recessive)" "" "0000411160" "1" "99" "19" "1399899" "1399899" "subst" "0" "01815" "GAMT_012007" "g.1399899C>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399900C>G" "" "pathogenic (recessive)" "" "0000411161" "1" "99" "19" "1399899" "1399899" "subst" "0" "01815" "GAMT_012007" "g.1399899C>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399900C>G" "" "pathogenic (recessive)" "" "0000411162" "2" "99" "19" "1399147" "1399147" "subst" "0" "01815" "GAMT_012035" "g.1399147G>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399148G>A" "" "pathogenic (recessive)" "" "0000411163" "2" "99" "19" "1399147" "1399147" "subst" "0" "01815" "GAMT_012035" "g.1399147G>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399148G>A" "" "pathogenic (recessive)" "" "0000411164" "2" "99" "19" "1399586" "1399586" "subst" "0" "01815" "GAMT_012036" "g.1399586C>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399587C>A" "" "pathogenic (recessive)" "" "0000411165" "1" "99" "19" "1399586" "1399586" "subst" "0" "01815" "GAMT_012036" "g.1399586C>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399587C>A" "" "pathogenic (recessive)" "" "0000411166" "1" "99" "19" "1399009" "1399009" "subst" "0" "01815" "GAMT_012037" "g.1399009A>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399010A>G" "" "pathogenic (recessive)" "" "0000411167" "2" "99" "19" "1399009" "1399009" "subst" "0" "01815" "GAMT_012037" "g.1399009A>G" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399010A>G" "" "pathogenic (recessive)" "" "0000411168" "1" "99" "19" "1399179" "1399179" "subst" "4.06326E-6" "01815" "GAMT_012034" "g.1399179G>A" "" "{PMID:Sempere 2009:19892372}" "" "" "" "Germline" "" "" "0" "" "" "g.1399180G>A" "" "pathogenic (recessive)" "" "0000411169" "2" "99" "19" "1399179" "1399179" "subst" "4.06326E-6" "01815" "GAMT_012034" "g.1399179G>A" "" "{PMID:Sempere 2009:19892372}" "" "" "" "Germline" "" "" "0" "" "" "g.1399180G>A" "" "pathogenic (recessive)" "" "0000411170" "1" "99" "19" "1401324" "1401324" "subst" "0" "01815" "GAMT_012002" "g.1401324T>G" "" "{PMID:Item 2004:15108290}" "" "" "" "Germline" "" "" "0" "" "" "g.1401325T>G" "" "pathogenic (recessive)" "" "0000411171" "1" "99" "19" "1401324" "1401324" "subst" "0" "01815" "GAMT_012002" "g.1401324T>G" "" "{PMID:Item 2004:15108290}" "" "" "" "Germline" "" "" "0" "" "" "g.1401325T>G" "" "pathogenic (recessive)" "" "0000411172" "2" "99" "19" "1399183" "1399183" "subst" "1.21913E-5" "01815" "GAMT_012006" "g.1399183C>T" "" "{PMID:O\'Rourke 2009:19388150}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399184C>T" "" "pathogenic (recessive)" "" "0000411173" "1" "99" "19" "1401343" "1401343" "subst" "2.49841E-5" "01815" "GAMT_012026" "g.1401343A>T" "" "{PMID:Comeaux 2013:23660394}, Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1401344A>T" "" "pathogenic (recessive)" "" "0000411174" "1" "99" "19" "1399917" "1399917" "subst" "0" "01815" "GAMT_012040" "g.1399917C>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399918C>A" "" "pathogenic (recessive)" "" "0000411175" "2" "99" "19" "1399917" "1399917" "subst" "0" "01815" "GAMT_012040" "g.1399917C>A" "" "Mahmutoglu et al, in preparation" "" "" "" "Germline" "" "" "0" "" "" "g.1399918C>A" "" "pathogenic (recessive)" "" "0000411176" "1" "99" "19" "1397479" "1397479" "subst" "0" "01815" "GAMT_012024" "g.1397479A>G" "" "{PMID:Leuzzi 2006:16293431}" "" "" "" "Germline" "" "" "0" "" "" "g.1397480A>G" "" "pathogenic (recessive)" "" "0000411177" "2" "99" "19" "1397479" "1397479" "subst" "0" "01815" "GAMT_012024" "g.1397479A>G" "" "{PMID:Leuzzi 2006:16293431}" "" "" "" "Germline" "" "" "0" "" "" "g.1397480A>G" "" "pathogenic (recessive)" "" "0000411178" "1" "11" "19" "1401397" "1401397" "subst" "0.00277086" "01815" "GAMT_012044" "g.1401397A>G" "" "Mahmutoglu et al, in preparation" "" "" "variant proven to be NOT associated with GAMT deficiency (overexpression does not restore GAMT enzyme activity, homozygous individual have normal activity, high prevalence in control cohorts)" "Germline" "" "" "0" "" "" "g.1401398A>G" "" "benign" "" "0000411179" "2" "11" "19" "1401397" "1401397" "subst" "0.00277086" "01815" "GAMT_012044" "g.1401397A>G" "" "Mahmutoglu et al, in preparation" "" "" "variant proven to be NOT associated with GAMT deficiency (overexpression does not restore GAMT enzyme activity, homozygous individual have normal activity, high prevalence in control cohorts)" "Germline" "" "" "0" "" "" "g.1401398A>G" "" "benign" "" "0000411180" "2" "95" "19" "1398964" "1398964" "dup" "0" "01815" "GAMT_012003" "g.1398964dup" "" "{PMID:Item 2004:15108290}" "" "526dupG" "" "Germline" "" "" "0" "" "" "g.1398965dup" "" "pathogenic (recessive)" "" "0000411181" "2" "95" "19" "1398964" "1398964" "dup" "0" "01815" "GAMT_012003" "g.1398964dup" "" "{PMID:Item 2004:15108290}" "" "526dupG" "" "Germline" "" "" "0" "" "" "g.1398965dup" "" "pathogenic (recessive)" "" "0000411182" "1" "95" "19" "1398964" "1398964" "dup" "0" "01815" "GAMT_012003" "g.1398964dup" "" "{PMID:Item 2004:15108290}" "" "526dupG" "" "Germline" "" "" "0" "" "" "g.1398965dup" "" "pathogenic (recessive)" "" "0000411183" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411185" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411187" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411188" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411189" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411190" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411191" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411192" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411197" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411198" "1" "99" "19" "1399830" "1399830" "subst" "0" "01815" "GAMT_012009" "g.1399830G>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399831G>A" "" "pathogenic (recessive)" "" "0000411199" "2" "99" "19" "1399830" "1399830" "subst" "0" "01815" "GAMT_012009" "g.1399830G>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399831G>A" "" "pathogenic (recessive)" "" "0000411210" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411211" "2" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411212" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411213" "2" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411214" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411215" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411216" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411217" "2" "99" "19" "1398964" "1398964" "subst" "4.06468E-6" "01815" "GAMT_012016" "g.1398964C>T" "" "Future Neurology; Rosenberg, Almeida 2006" "" "" "" "Germline" "" "" "0" "" "" "g.1398965C>T" "" "pathogenic (recessive)" "" "0000411218" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411219" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411220" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411221" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411222" "2" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411223" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411224" "2" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411225" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411226" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411227" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411228" "2" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411229" "1" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411231" "1" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411234" "1" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411235" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411236" "2" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411237" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411238" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411239" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411240" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411241" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411242" "2" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411243" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411244" "2" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411245" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411246" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411247" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411248" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411249" "2" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411250" "1" "99" "19" "1398999" "1398999" "dup" "0" "01815" "GAMT_012020" "g.1398999dup" "" "{PMID:Carducci 2000:11136556}" "" "491insG" "" "Germline" "" "" "0" "" "" "g.1399000dup" "" "pathogenic (recessive)" "" "0000411251" "2" "99" "19" "1398999" "1398999" "dup" "0" "01815" "GAMT_012020" "g.1398999dup" "" "{PMID:Carducci 2000:11136556}" "" "491insG" "" "Germline" "" "" "0" "" "" "g.1399000dup" "" "pathogenic (recessive)" "" "0000411257" "1" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411258" "1" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411259" "1" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411260" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411261" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411262" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411263" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411264" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411265" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411266" "1" "99" "19" "1398963" "1398963" "subst" "2.84544E-5" "01815" "GAMT_012027" "g.1398963C>T" "" "{PMID:Morris 2006:17171576}" "" "" "" "Germline" "" "" "0" "" "" "g.1398964C>T" "" "pathogenic (recessive)" "" "0000411267" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411268" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411269" "2" "99" "19" "1401446" "1401471" "dup" "0" "01815" "GAMT_012028" "g.1401446_1401471dup" "" "{PMID:Dhar 2009:19027335}" "" "36_37ins26" "" "Germline" "" "" "0" "" "" "g.1401447_1401472dup" "" "pathogenic (recessive)" "" "0000411270" "1" "99" "19" "1401446" "1401471" "dup" "0" "01815" "GAMT_012028" "g.1401446_1401471dup" "" "{PMID:Dhar 2009:19027335}" "" "36_37ins26" "" "Germline" "" "" "0" "" "" "g.1401447_1401472dup" "" "pathogenic (recessive)" "" "0000411271" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411273" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411275" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411277" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411278" "2" "95" "19" "1399508" "1399508" "subst" "1.66358E-5" "01815" "GAMT_012032" "g.1399508C>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399509C>A" "" "pathogenic (recessive)" "" "0000411279" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411280" "1" "99" "19" "1399830" "1399830" "subst" "0" "01815" "GAMT_012009" "g.1399830G>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399831G>A" "" "pathogenic (recessive)" "" "0000411281" "2" "99" "19" "1399830" "1399830" "subst" "0" "01815" "GAMT_012009" "g.1399830G>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399831G>A" "" "pathogenic (recessive)" "" "0000411282" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411283" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411284" "1" "99" "19" "1399803" "1399803" "subst" "0" "01815" "GAMT_012033" "g.1399803G>A" "" "{PMID:Sempere 2009:19892372}" "" "" "" "Germline" "" "" "0" "" "" "g.1399804G>A" "" "pathogenic (recessive)" "" "0000411285" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411286" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411287" "1" "99" "19" "1401446" "1401471" "dup" "0" "01815" "GAMT_012028" "g.1401446_1401471dup" "" "{PMID:Dhar 2009:19027335}" "" "36_37ins26" "" "Germline" "" "" "0" "" "" "g.1401447_1401472dup" "" "pathogenic (recessive)" "" "0000411288" "1" "99" "19" "1401446" "1401471" "dup" "0" "01815" "GAMT_012028" "g.1401446_1401471dup" "" "{PMID:Dhar 2009:19027335}" "" "36_37ins26" "" "Germline" "" "" "0" "" "" "g.1401447_1401472dup" "" "pathogenic (recessive)" "" "0000411289" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411290" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411291" "1" "99" "19" "1398999" "1398999" "del" "0" "01815" "GAMT_012038" "g.1398999del" "" "{PMID:Item 2004:15108290}" "" "491delG" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "" "0000411292" "2" "99" "19" "1398999" "1398999" "del" "0" "01815" "GAMT_012038" "g.1398999del" "" "{PMID:Item 2004:15108290}" "" "491delG" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "" "0000411293" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411294" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411302" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411303" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411304" "1" "99" "19" "1401316" "1401316" "subst" "0" "01815" "GAMT_012041" "g.1401316C>G" "" "{PMID:Item 2004:15108290}" "" "" "" "Germline" "" "" "0" "" "" "g.1401317C>G" "" "pathogenic (recessive)" "" "0000411305" "2" "99" "19" "1401316" "1401316" "subst" "0" "01815" "GAMT_012041" "g.1401316C>G" "" "{PMID:Item 2004:15108290}" "" "" "" "Germline" "" "" "0" "" "" "g.1401317C>G" "" "pathogenic (recessive)" "" "0000411306" "1" "99" "19" "1401316" "1401316" "subst" "0" "01815" "GAMT_012041" "g.1401316C>G" "" "{PMID:Item 2004:15108290}" "" "" "" "Germline" "" "" "0" "" "" "g.1401317C>G" "" "pathogenic (recessive)" "" "0000411307" "1" "99" "19" "1401316" "1401316" "subst" "0" "01815" "GAMT_012041" "g.1401316C>G" "" "{PMID:Item 2004:15108290}" "" "" "" "Germline" "" "" "0" "" "" "g.1401317C>G" "" "pathogenic (recessive)" "" "0000411308" "1" "99" "19" "1401417" "1401417" "dup" "0" "01815" "GAMT_012045" "g.1401417dup" "" "{PMID:Item 2004:15108290}" "" "64dupG" "" "Germline" "" "" "0" "" "" "g.1401418dup" "" "pathogenic (recessive)" "" "0000411309" "2" "99" "19" "1401417" "1401417" "dup" "0" "01815" "GAMT_012045" "g.1401417dup" "" "{PMID:Item 2004:15108290}" "" "64dupG" "" "Germline" "" "" "0" "" "" "g.1401418dup" "" "pathogenic (recessive)" "" "0000411310" "1" "99" "19" "1401417" "1401417" "dup" "0" "01815" "GAMT_012045" "g.1401417dup" "" "{PMID:Item 2004:15108290}" "" "64dupG" "" "Germline" "" "" "0" "" "" "g.1401418dup" "" "pathogenic (recessive)" "" "0000411311" "2" "99" "19" "1401417" "1401417" "dup" "0" "01815" "GAMT_012045" "g.1401417dup" "" "{PMID:Item 2004:15108290}" "" "64dupG" "" "Germline" "" "" "0" "" "" "g.1401418dup" "" "pathogenic (recessive)" "" "0000411312" "1" "99" "19" "1401417" "1401417" "dup" "0" "01815" "GAMT_012045" "g.1401417dup" "" "{PMID:Item 2004:15108290}" "" "64dupG" "" "Germline" "" "" "0" "" "" "g.1401418dup" "" "pathogenic (recessive)" "" "0000411313" "1" "99" "19" "1401417" "1401417" "dup" "0" "01815" "GAMT_012045" "g.1401417dup" "" "{PMID:Item 2004:15108290}" "" "64dupG" "" "Germline" "" "" "0" "" "" "g.1401418dup" "" "pathogenic (recessive)" "" "0000411314" "2" "95" "19" "1398964" "1398964" "dup" "0" "01815" "GAMT_012003" "g.1398964dup" "" "{PMID:Item 2004:15108290}" "" "526dupG" "" "Germline" "" "" "0" "" "" "g.1398965dup" "" "pathogenic (recessive)" "" "0000411315" "1" "95" "19" "1398964" "1398964" "dup" "0" "01815" "GAMT_012003" "g.1398964dup" "" "{PMID:Item 2004:15108290}" "" "526dupG" "" "Germline" "" "" "0" "" "" "g.1398965dup" "" "pathogenic (recessive)" "" "0000411316" "1" "99" "19" "1398999" "1398999" "del" "0" "01815" "GAMT_012038" "g.1398999del" "" "{PMID:Item 2004:15108290}" "" "491delG" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "" "0000411317" "2" "99" "19" "1398999" "1398999" "del" "0" "01815" "GAMT_012038" "g.1398999del" "" "{PMID:Item 2004:15108290}" "" "491delG" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "" "0000411318" "1" "99" "19" "1398999" "1398999" "del" "0" "01815" "GAMT_012038" "g.1398999del" "" "{PMID:Item 2004:15108290}" "" "491delG" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "" "0000411319" "1" "99" "19" "1398999" "1398999" "del" "0" "01815" "GAMT_012038" "g.1398999del" "" "{PMID:Item 2004:15108290}" "" "491delG" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "" "0000411320" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411321" "2" "99" "19" "1398964" "1398964" "subst" "4.06468E-6" "01815" "GAMT_012016" "g.1398964C>T" "" "Future Neurology; Rosenberg, Almeida 2006" "" "" "" "Germline" "" "" "0" "" "" "g.1398965C>T" "" "pathogenic (recessive)" "" "0000411322" "1" "99" "19" "1398964" "1398964" "subst" "4.06468E-6" "01815" "GAMT_012016" "g.1398964C>T" "" "Future Neurology; Rosenberg, Almeida 2006" "" "" "" "Germline" "" "" "0" "" "" "g.1398965C>T" "" "pathogenic (recessive)" "" "0000411323" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411324" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411325" "2" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411326" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411327" "1" "99" "19" "1401417" "1401417" "subst" "5.42314E-5" "01815" "GAMT_012015" "g.1401417C>G" "" "{PMID:Almeida 2007:17336114}" "" "" "" "Germline" "" "" "0" "" "" "g.1401418C>G" "" "pathogenic (recessive)" "" "0000411328" "1" "99" "19" "1399523" "1399523" "subst" "0" "01815" "GAMT_012046" "g.1399523C>G" "" "{PMID:Akiyama 2013:23846910}" "" "" "" "Germline" "" "" "0" "" "" "g.1399524C>G" "" "pathogenic (recessive)" "" "0000411329" "2" "99" "19" "1397491" "1397491" "subst" "0" "01815" "GAMT_012047" "g.1397491T>C" "" "{PMID:Akiyama 2013:23846910}" "" "" "" "Germline" "" "" "0" "" "" "g.1397492T>C" "" "pathogenic (recessive)" "" "0000411330" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411331" "1" "99" "19" "1399886" "1399886" "subst" "0" "01815" "GAMT_012048" "g.1399886A>T" "" "{PMID:Comeaux 2013:23660394}" "" "" "" "Germline" "" "" "0" "" "" "g.1399887A>T" "" "pathogenic (recessive)" "" "0000411332" "2" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411333" "1" "99" "19" "1399886" "1399886" "subst" "0" "01815" "GAMT_012048" "g.1399886A>T" "" "{PMID:Comeaux 2013:23660394}" "" "" "" "Germline" "" "" "0" "" "" "g.1399887A>T" "" "pathogenic (recessive)" "" "0000411334" "2" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411335" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411336" "2" "99" "19" "1398963" "1398963" "subst" "2.84544E-5" "01815" "GAMT_012027" "g.1398963C>T" "" "{PMID:Morris 2006:17171576}" "" "" "" "Germline" "" "" "0" "" "" "g.1398964C>T" "" "pathogenic (recessive)" "" "0000411337" "1" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411338" "2" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411339" "1" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411340" "2" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411341" "1" "95" "19" "1399508" "1399508" "subst" "1.66358E-5" "01815" "GAMT_012032" "g.1399508C>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399509C>A" "" "pathogenic (recessive)" "" "0000411342" "2" "95" "19" "1399508" "1399508" "subst" "1.66358E-5" "01815" "GAMT_012032" "g.1399508C>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399509C>A" "" "pathogenic (recessive)" "" "0000411343" "1" "95" "19" "1399508" "1399508" "subst" "1.66358E-5" "01815" "GAMT_012032" "g.1399508C>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399509C>A" "" "pathogenic (recessive)" "" "0000411344" "1" "95" "19" "1399508" "1399508" "subst" "1.66358E-5" "01815" "GAMT_012032" "g.1399508C>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399509C>A" "" "pathogenic (recessive)" "" "0000411345" "1" "99" "19" "1397492" "1397492" "subst" "0" "01815" "GAMT_012049" "g.1397492G>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1397493G>A" "" "pathogenic (recessive)" "" "0000411346" "2" "99" "19" "1397492" "1397492" "subst" "0" "01815" "GAMT_012049" "g.1397492G>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1397493G>A" "" "pathogenic (recessive)" "" "0000411347" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411348" "2" "99" "19" "1398967" "1398981" "dup" "0" "01815" "GAMT_012050" "g.1398967_1398981dup" "" "{PMID:Dhar 2009:19027335}" "" "507_521dup15" "" "Germline" "" "" "0" "" "" "g.1398968_1398982dup" "" "pathogenic (recessive)" "" "0000411349" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411350" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411351" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411352" "2" "99" "19" "1398963" "1398963" "subst" "2.84544E-5" "01815" "GAMT_012027" "g.1398963C>T" "" "{PMID:Morris 2006:17171576}" "" "" "" "Germline" "" "" "0" "" "" "g.1398964C>T" "" "pathogenic (recessive)" "" "0000411353" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411354" "2" "99" "19" "1398963" "1398963" "subst" "2.84544E-5" "01815" "GAMT_012027" "g.1398963C>T" "" "{PMID:Morris 2006:17171576}" "" "" "" "Germline" "" "" "0" "" "" "g.1398964C>T" "" "pathogenic (recessive)" "" "0000411355" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411356" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411357" "1" "99" "19" "1399183" "1399183" "subst" "0" "01815" "GAMT_012051" "g.1399183C>A" "" "{PMID:Dhar 2009:19027335}" "" "" "" "Germline" "" "" "0" "" "" "g.1399184C>A" "" "pathogenic (recessive)" "" "0000411358" "2" "99" "19" "1398967" "1398981" "dup" "0" "01815" "GAMT_012050" "g.1398967_1398981dup" "" "{PMID:Dhar 2009:19027335}" "" "507_521dup15" "" "Germline" "" "" "0" "" "" "g.1398968_1398982dup" "" "pathogenic (recessive)" "" "0000411359" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411360" "2" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411361" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411362" "2" "99" "19" "1398963" "1398963" "subst" "2.84544E-5" "01815" "GAMT_012027" "g.1398963C>T" "" "{PMID:Morris 2006:17171576}" "" "" "" "Germline" "" "" "0" "" "" "g.1398964C>T" "" "pathogenic (recessive)" "" "0000411363" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411364" "2" "99" "19" "1401446" "1401471" "dup" "0" "01815" "GAMT_012028" "g.1401446_1401471dup" "" "{PMID:Dhar 2009:19027335}" "" "36_37ins26" "" "Germline" "" "" "0" "" "" "g.1401447_1401472dup" "" "pathogenic (recessive)" "" "0000411365" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411366" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411367" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411368" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411369" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411370" "1" "99" "19" "1398994" "1398994" "subst" "4.06696E-6" "01815" "GAMT_012052" "g.1398994C>T" "" "{PMID:Comeaux 2013:23660394}" "" "" "" "Germline" "" "" "0" "" "" "g.1398995C>T" "" "pathogenic (recessive)" "" "0000411371" "2" "99" "19" "1398963" "1398963" "subst" "2.84544E-5" "01815" "GAMT_012027" "g.1398963C>T" "" "{PMID:Morris 2006:17171576}" "" "" "" "Germline" "" "" "0" "" "" "g.1398964C>T" "" "pathogenic (recessive)" "" "0000411372" "1" "99" "19" "1398980" "1398980" "subst" "0" "01815" "GAMT_012053" "g.1398980A>G" "" "{PMID:Comeaux 2013:23660394}" "" "" "" "Germline" "" "" "0" "" "" "g.1398981A>G" "" "pathogenic (recessive)" "" "0000411373" "2" "99" "19" "1398963" "1398963" "subst" "2.84544E-5" "01815" "GAMT_012027" "g.1398963C>T" "" "{PMID:Morris 2006:17171576}" "" "" "" "Germline" "" "" "0" "" "" "g.1398964C>T" "" "pathogenic (recessive)" "" "0000411374" "1" "99" "19" "1401331" "1401331" "del" "0" "01815" "GAMT_012054" "g.1401331del" "" "{PMID:Sempere 2009:19892372}" "" "" "" "Germline" "" "" "0" "" "" "g.1401332del" "" "pathogenic (recessive)" "" "0000411375" "2" "99" "19" "1401331" "1401331" "del" "0" "01815" "GAMT_012054" "g.1401331del" "" "{PMID:Sempere 2009:19892372}" "" "" "" "Germline" "" "" "0" "" "" "g.1401332del" "" "pathogenic (recessive)" "" "0000411376" "1" "99" "19" "1398999" "1398999" "dup" "0" "01815" "GAMT_012020" "g.1398999dup" "" "{PMID:Carducci 2000:11136556}" "" "491insG" "" "Germline" "" "" "0" "" "" "g.1399000dup" "" "pathogenic (recessive)" "" "0000411377" "2" "99" "19" "1397501" "1397501" "subst" "4.22783E-6" "01815" "GAMT_012055" "g.1397501G>C" "" "{PMID:Carducci 2000:11136556}" "" "" "" "Germline" "" "" "0" "" "" "g.1397502G>C" "" "pathogenic (recessive)" "" "0000411378" "1" "99" "19" "1397501" "1397501" "subst" "4.22783E-6" "01815" "GAMT_012055" "g.1397501G>C" "" "{PMID:Carducci 2000:11136556}" "" "" "" "Germline" "" "" "0" "" "" "g.1397502G>C" "" "pathogenic (recessive)" "" "0000411379" "1" "99" "19" "1398999" "1398999" "dup" "0" "01815" "GAMT_012020" "g.1398999dup" "" "{PMID:Carducci 2000:11136556}" "" "491insG" "" "Germline" "" "" "0" "" "" "g.1399000dup" "" "pathogenic (recessive)" "" "0000411380" "1" "99" "19" "1398982" "1398982" "subst" "0" "01815" "GAMT_012056" "g.1398982T>G" "" "{PMID:Bodamer 2009:19255414}" "" "" "" "Germline" "" "" "0" "" "" "g.1398983T>G" "" "pathogenic (recessive)" "" "0000411381" "2" "99" "19" "1398982" "1398982" "subst" "0" "01815" "GAMT_012056" "g.1398982T>G" "" "{PMID:Bodamer 2009:19255414}" "" "" "" "Germline" "" "" "0" "" "" "g.1398983T>G" "" "pathogenic (recessive)" "" "0000411382" "1" "99" "19" "1398982" "1398982" "subst" "0" "01815" "GAMT_012056" "g.1398982T>G" "" "{PMID:Bodamer 2009:19255414}" "" "" "" "Germline" "" "" "0" "" "" "g.1398983T>G" "" "pathogenic (recessive)" "" "0000411383" "1" "99" "19" "1398982" "1398982" "subst" "0" "01815" "GAMT_012056" "g.1398982T>G" "" "{PMID:Bodamer 2009:19255414}" "" "" "" "Germline" "" "" "0" "" "" "g.1398983T>G" "" "pathogenic (recessive)" "" "0000411384" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411385" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411386" "1" "99" "19" "1398999" "1398999" "del" "0" "01815" "GAMT_012038" "g.1398999del" "" "{PMID:Item 2004:15108290}" "" "491delG" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "" "0000411387" "2" "99" "19" "1398999" "1398999" "del" "0" "01815" "GAMT_012038" "g.1398999del" "" "{PMID:Item 2004:15108290}" "" "491delG" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "" "0000411388" "1" "99" "19" "1398999" "1398999" "del" "0" "01815" "GAMT_012038" "g.1398999del" "" "{PMID:Item 2004:15108290}" "" "491delG" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "" "0000411389" "1" "99" "19" "1398999" "1398999" "del" "0" "01815" "GAMT_012038" "g.1398999del" "" "{PMID:Item 2004:15108290}" "" "491delG" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "" "0000411390" "1" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411391" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411392" "1" "99" "19" "1399810" "1399822" "dup" "0" "01815" "GAMT_012018" "g.1399810_1399822dup" "" "Future Neurology; Rosenberg, Almeida 2006; {PMID:Dhar 2009:19027335}" "" "299_311dupGGGACTGGGCCCC" "" "Germline" "" "" "0" "" "" "g.1399811_1399823dup" "" "pathogenic (recessive)" "" "0000411393" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411406" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411407" "2" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411408" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411409" "1" "99" "19" "1399792" "1399792" "subst" "0.000192282" "01815" "GAMT_012004" "g.1399792C>T" "" "{PMID:Item 2004:15108209}" "" "" "" "Germline" "" "" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "" "0000411410" "1" "99" "19" "1398999" "1398999" "dup" "0" "01815" "GAMT_012020" "g.1398999dup" "" "{PMID:Carducci 2000:11136556}" "" "491insG" "" "Germline" "" "" "0" "" "" "g.1399000dup" "" "pathogenic (recessive)" "" "0000411411" "2" "99" "19" "1398999" "1398999" "dup" "0" "01815" "GAMT_012020" "g.1398999dup" "" "{PMID:Carducci 2000:11136556}" "" "491insG" "" "Germline" "" "" "0" "" "" "g.1399000dup" "" "pathogenic (recessive)" "" "0000411412" "1" "99" "19" "1398999" "1398999" "dup" "0" "01815" "GAMT_012020" "g.1398999dup" "" "{PMID:Carducci 2000:11136556}" "" "491insG" "" "Germline" "" "" "0" "" "" "g.1399000dup" "" "pathogenic (recessive)" "" "0000411413" "1" "99" "19" "1398999" "1398999" "dup" "0" "01815" "GAMT_012020" "g.1398999dup" "" "{PMID:Carducci 2000:11136556}" "" "491insG" "" "Germline" "" "" "0" "" "" "g.1399000dup" "" "pathogenic (recessive)" "" "0000411414" "1" "99" "19" "1399830" "1399830" "subst" "0" "01815" "GAMT_012009" "g.1399830G>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399831G>A" "" "pathogenic (recessive)" "" "0000411415" "2" "99" "19" "1399830" "1399830" "subst" "0" "01815" "GAMT_012009" "g.1399830G>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399831G>A" "" "pathogenic (recessive)" "" "0000411416" "1" "99" "19" "1399830" "1399830" "subst" "0" "01815" "GAMT_012009" "g.1399830G>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399831G>A" "" "pathogenic (recessive)" "" "0000411417" "1" "99" "19" "1399830" "1399830" "subst" "0" "01815" "GAMT_012009" "g.1399830G>A" "" "{PMID:Cheillan 2012:23234264}" "" "" "" "Germline" "" "" "0" "" "" "g.1399831G>A" "" "pathogenic (recessive)" "" "0000411418" "1" "99" "19" "1401343" "1401343" "subst" "2.49841E-5" "01815" "GAMT_012026" "g.1401343A>T" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1401344A>T" "" "NA" "" "0000411419" "1" "99" "19" "1401328" "1401328" "subst" "0" "01815" "GAMT_012017" "g.1401328T>G" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1401329T>G" "" "NA" "" "0000411420" "1" "99" "19" "1401324" "1401324" "subst" "0" "01815" "GAMT_012002" "g.1401324T>G" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1401325T>G" "" "NA" "" "0000411421" "2" "99" "19" "1399917" "1399917" "subst" "0" "01815" "GAMT_012040" "g.1399917C>A" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1399918C>A" "" "NA" "" "0000411422" "1" "99" "19" "1399899" "1399899" "subst" "0" "01815" "GAMT_012007" "g.1399899C>G" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1399900C>G" "" "NA" "" "0000411423" "1" "99" "19" "1399895" "1399895" "subst" "2.55054E-5" "01815" "GAMT_012030" "g.1399895G>A" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1399896G>A" "" "NA" "" "0000411424" "1" "11" "19" "1401454" "1401454" "subst" "0.000144669" "01815" "GAMT_012043" "g.1401454G>T" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts restores GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1401455G>T" "" "NA" "" "0000411425" "1" "99" "19" "1399845" "1399845" "subst" "0" "01815" "GAMT_012025" "g.1399845T>C" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1399846T>C" "" "NA" "" "0000411426" "1" "99" "19" "1399586" "1399586" "subst" "0" "01815" "GAMT_012036" "g.1399586C>A" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1399587C>A" "" "NA" "" "0000411427" "2" "99" "19" "1399183" "1399183" "subst" "1.21913E-5" "01815" "GAMT_012006" "g.1399183C>T" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1399184C>T" "" "NA" "" "0000411428" "2" "99" "19" "1399179" "1399179" "subst" "4.06326E-6" "01815" "GAMT_012034" "g.1399179G>A" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1399180G>A" "" "NA" "" "0000411429" "2" "99" "19" "1399147" "1399147" "subst" "0" "01815" "GAMT_012035" "g.1399147G>A" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1399148G>A" "" "NA" "" "0000411430" "1" "99" "19" "1399009" "1399009" "subst" "0" "01815" "GAMT_012037" "g.1399009A>G" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1399010A>G" "" "NA" "" "0000411431" "1" "99" "19" "1398988" "1398988" "subst" "4.06458E-6" "01815" "GAMT_012012" "g.1398988A>G" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1398989A>G" "" "NA" "" "0000411432" "1" "99" "19" "1398979" "1398979" "subst" "1.62591E-5" "01815" "GAMT_012014" "g.1398979C>T" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1398980C>T" "" "NA" "" "0000411433" "2" "99" "19" "1397479" "1397479" "subst" "0" "01815" "GAMT_012024" "g.1397479A>G" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1397480A>G" "" "NA" "" "0000411434" "1" "99" "19" "1397446" "1397446" "subst" "0" "01815" "GAMT_012008" "g.1397446C>G" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1397447C>G" "" "NA" "" "0000411435" "2" "11" "19" "1401397" "1401397" "subst" "0.00277086" "01815" "GAMT_012044" "g.1401397A>G" "" "Mahmutoglu et al, in preparation" "" "" "overexpression in primary GAMT deficient fibroblasts restores GAMT activity" "In vitro (cloned)" "" "" "0" "" "" "g.1401398A>G" "" "NA" "" "0000566284" "0" "10" "19" "1395505" "1395507" "dup" "0" "01943" "NDUFS7_000014" "g.1395505_1395507dup" "" "" "" "NDUFS7(NM_024407.4):c.642_*1insCGC, NDUFS7(NM_024407.5):c.642_*1insCGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1395506_1395508dup" "" "benign" "" "0000566285" "0" "10" "19" "1395505" "1395507" "dup" "0" "02325" "NDUFS7_000014" "g.1395505_1395507dup" "" "" "" "NDUFS7(NM_024407.4):c.642_*1insCGC, NDUFS7(NM_024407.5):c.642_*1insCGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1395506_1395508dup" "" "benign" "" "0000566286" "0" "30" "19" "1397427" "1397427" "subst" "2.46696E-5" "02326" "NDUFS7_000015" "g.1397427C>T" "" "" "" "GAMT(NM_000156.5):c.642G>A (p.L214=), GAMT(NM_000156.6):c.642G>A (p.L214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1397428C>T" "" "likely benign" "" "0000566287" "0" "30" "19" "1397488" "1397488" "subst" "0.000763859" "02326" "NDUFS7_000016" "g.1397488A>G" "" "" "" "GAMT(NM_000156.6):c.581T>C (p.V194A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1397489A>G" "" "likely benign" "" "0000566288" "0" "30" "19" "1398674" "1398674" "subst" "0.00124714" "02330" "NDUFS7_000017" "g.1398674C>G" "" "" "" "GAMT(NM_138924.3):c.*1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1398675C>G" "" "likely benign" "" "0000566289" "0" "10" "19" "1398750" "1398750" "subst" "0.0102044" "02330" "NDUFS7_000018" "g.1398750C>T" "" "" "" "GAMT(NM_138924.3):c.735G>A (p.A245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1398751C>T" "" "benign" "" "0000566290" "0" "10" "19" "1398750" "1398750" "subst" "0.0102044" "02325" "NDUFS7_000018" "g.1398750C>T" "" "" "" "GAMT(NM_138924.3):c.735G>A (p.A245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1398751C>T" "" "benign" "" "0000566291" "0" "30" "19" "1398762" "1398762" "subst" "0" "01943" "NDUFS7_000019" "g.1398762G>T" "" "" "" "GAMT(NM_138924.2):c.723C>A (p.V241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1398763G>T" "" "likely benign" "" "0000566293" "0" "10" "19" "1399201" "1399201" "subst" "0.000683049" "02330" "NDUFS7_000020" "g.1399201G>A" "" "" "" "GAMT(NM_138924.3):c.392-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1399202G>A" "" "benign" "" "0000566294" "0" "10" "19" "1399566" "1399566" "subst" "0.00393775" "02330" "NDUFS7_000021" "g.1399566C>T" "" "" "" "GAMT(NM_138924.3):c.348G>A (p.L116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1399567C>T" "" "benign" "" "0000566295" "0" "30" "19" "1399840" "1399840" "subst" "0.00056444" "02326" "NDUFS7_000022" "g.1399840G>A" "" "" "" "GAMT(NM_000156.6):c.279C>T (p.D93=), GAMT(NM_138924.2):c.279C>T (p.D93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1399841G>A" "" "likely benign" "" "0000566296" "0" "30" "19" "1399955" "1399955" "subst" "0.000588351" "02326" "NDUFS7_000023" "g.1399955G>A" "" "" "" "GAMT(NM_000156.6):c.182-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1399956G>A" "" "likely benign" "" "0000566297" "0" "90" "19" "1401343" "1401343" "subst" "2.49841E-5" "01804" "GAMT_012026" "g.1401343A>T" "" "" "" "GAMT(NM_000156.5):c.133T>A (p.(Trp45Arg)), GAMT(NM_138924.2):c.133T>A (p.W45R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1401344A>T" "" "pathogenic" "" "0000566298" "0" "50" "19" "1401354" "1401354" "subst" "0" "02327" "GAMT_015001" "g.1401354A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1401355A>T" "" "VUS" "" "0000566299" "0" "30" "19" "1401397" "1401397" "subst" "0.00277086" "01943" "GAMT_012044" "g.1401397A>G" "" "" "" "GAMT(NM_000156.6):c.79T>C (p.Y27H), GAMT(NM_138924.2):c.79T>C (p.Y27H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1401398A>G" "" "likely benign" "" "0000566300" "0" "30" "19" "1401397" "1401397" "subst" "0.00277086" "02326" "GAMT_012044" "g.1401397A>G" "" "" "" "GAMT(NM_000156.6):c.79T>C (p.Y27H), GAMT(NM_138924.2):c.79T>C (p.Y27H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1401398A>G" "" "likely benign" "" "0000623944" "0" "30" "19" "1401428" "1401428" "subst" "0" "01943" "GAMT_015002" "g.1401428G>A" "" "" "" "GAMT(NM_138924.2):c.48C>T (p.C16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1401429G>A" "" "likely benign" "" "0000649906" "1" "90" "19" "1398994" "1398994" "subst" "4.06696E-6" "03575" "GAMT_012052" "g.1398994C>T" "3/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs760101382}" "Germline" "" "rs760101382" "0" "" "" "g.1398995C>T" "" "pathogenic" "" "0000658505" "0" "90" "19" "1399792" "1399792" "subst" "0.000192282" "02329" "GAMT_012004" "g.1399792C>T" "" "" "" "GAMT(NM_138924.2):c.327G>A (p.K109=), GAMT(NM_138924.3):c.327G>A (p.K109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1399793C>T" "" "pathogenic" "" "0000658506" "0" "30" "19" "1401422" "1401422" "subst" "0" "02326" "GAMT_015003" "g.1401422G>A" "" "" "" "GAMT(NM_000156.6):c.54C>T (p.P18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1401423G>A" "" "likely benign" "" "0000681305" "0" "50" "19" "1401343" "1401343" "subst" "2.49841E-5" "01943" "GAMT_012026" "g.1401343A>T" "" "" "" "GAMT(NM_000156.5):c.133T>A (p.(Trp45Arg)), GAMT(NM_138924.2):c.133T>A (p.W45R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787478" "3" "90" "19" "1398999" "1398999" "dup" "0" "00000" "GAMT_012020" "g.1398999dup" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.1399000dup" "" "pathogenic" "" "0000808712" "0" "30" "19" "1397427" "1397427" "subst" "2.46696E-5" "01943" "NDUFS7_000015" "g.1397427C>T" "" "" "" "GAMT(NM_000156.5):c.642G>A (p.L214=), GAMT(NM_000156.6):c.642G>A (p.L214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808713" "0" "30" "19" "1399840" "1399840" "subst" "0.00056444" "01943" "NDUFS7_000022" "g.1399840G>A" "" "" "" "GAMT(NM_000156.6):c.279C>T (p.D93=), GAMT(NM_138924.2):c.279C>T (p.D93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817878" "3" "90" "19" "1398999" "1398999" "del" "0" "00006" "GAMT_012038" "g.1398999del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "ACMG" "0000817883" "3" "90" "19" "1398999" "1398999" "del" "0" "00006" "GAMT_012038" "g.1398999del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.1399000del" "" "pathogenic (recessive)" "ACMG" "0000821048" "3" "90" "19" "1399792" "1399792" "subst" "0.000192282" "00006" "GAMT_012004" "g.1399792C>T" "" "{PMID:Kritioti 2021:34324503}" "" "" "ACMG PVS1, PM2, PP4, PP5, BP4" "Germline" "" "rs80338735" "0" "" "" "g.1399793C>T" "" "pathogenic (recessive)" "ACMG" "0000855461" "0" "50" "19" "1398932" "1398932" "subst" "4.06623E-6" "01943" "NDUFS7_000032" "g.1398932T>G" "" "" "" "GAMT(NM_138924.2):c.553A>C (p.I185L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855462" "0" "90" "19" "1398999" "1398999" "dup" "0" "02329" "GAMT_012020" "g.1398999dup" "" "" "" "GAMT(NM_138924.3):c.491dupG (p.V165Rfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865904" "0" "30" "19" "1397362" "1397362" "subst" "8.73377E-5" "01943" "NDUFS7_000031" "g.1397362C>G" "" "" "" "GAMT(NM_000156.5):c.707G>C (p.G236A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865905" "0" "90" "19" "1399026" "1399026" "subst" "0" "02327" "NDUFS7_000033" "g.1399026C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926823" "0" "90" "19" "1398980" "1398980" "subst" "0" "02327" "GAMT_012053" "g.1398980A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983237" "0" "50" "19" "1398976" "1398976" "subst" "4.06455E-6" "01804" "GAMT_012063" "g.1398976T>C" "" "" "" "GAMT(NM_000156.6):c.509A>G (p.(Asn170Ser)), GAMT(NM_138924.2):c.509A>G (p.N170S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983238" "0" "50" "19" "1401438" "1401438" "subst" "0" "01804" "GAMT_015004" "g.1401438C>G" "" "" "" "GAMT(NM_000156.6):c.38G>C (p.(Gly13Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983239" "0" "50" "19" "1401454" "1401454" "subst" "0.000144669" "01804" "GAMT_012043" "g.1401454G>T" "" "" "" "GAMT(NM_000156.6):c.22C>A (p.(Pro8Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004413" "0" "50" "19" "1393305" "1393305" "subst" "0" "01804" "NDUFS7_000034" "g.1393305G>A" "" "" "" "NDUFS7(NM_024407.4):c.520G>A (p.(Val174Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042665" "0" "50" "19" "1397378" "1397378" "subst" "0" "01804" "NDUFS7_000036" "g.1397378G>A" "" "" "" "GAMT(NM_000156.6):c.691C>T (p.(Pro231Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042666" "0" "50" "19" "1399892" "1399892" "subst" "0.000263357" "01804" "NDUFS7_000037" "g.1399892G>A" "" "" "" "GAMT(NM_000156.6):c.227C>T (p.(Ser76Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GAMT ## Count = 323 "{{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}}" "0000130176" "00024200" "70" "609" "0" "609" "0" "c.609dup" "r.(?)" "p.(Arg204Glufs*63)" "6" "0000276948" "00024200" "10" "571" "-6" "571" "-6" "c.571-6G>A" "r.(=)" "p.(=)" "" "0000276949" "00024200" "10" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Thr209Met)" "" "0000284579" "00024200" "30" "392" "-45" "392" "-45" "c.392-45C>T" "r.(=)" "p.(=)" "" "0000284580" "00024200" "10" "392" "-6" "392" "-6" "c.392-6G>C" "r.(=)" "p.(=)" "" "0000288205" "00024200" "50" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(Lys109=)" "" "0000288206" "00024200" "50" "509" "0" "509" "0" "c.509A>G" "r.(?)" "p.(Asn170Ser)" "" "0000296387" "00024200" "50" "2566" "0" "2566" "0" "c.*1855G>A" "r.(=)" "p.(=)" "" "0000326039" "00024200" "30" "240" "0" "240" "0" "c.240G>C" "r.(?)" "p.(Glu80Asp)" "" "0000326040" "00024200" "50" "82" "0" "82" "0" "c.82G>C" "r.(?)" "p.(Asp28His)" "" "0000411115" "00024200" "99" "242" "0" "327" "65" "c.242_327+65del" "r.182_327del" "p.?" "2_3i" "0000411116" "00024200" "99" "242" "0" "327" "65" "c.242_327+65del" "r.182_327del" "p.?" "2_3i" "0000411117" "00024200" "11" "22" "0" "22" "0" "c.22C>A" "r.(?)" "p.(Pro8Thr)" "1" "0000411118" "00024200" "99" "152" "0" "152" "0" "c.152A>C" "r.(?)" "p.(His51Pro)" "1" "0000411119" "00024200" "99" "152" "0" "152" "0" "c.152A>C" "r.(?)" "p.(His51Pro)" "1" "0000411120" "00024200" "99" "152" "0" "152" "0" "c.152A>C" "r.(?)" "p.(His51Pro)" "1" "0000411121" "00024200" "99" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000411122" "00024200" "99" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000411123" "00024200" "99" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.(Ala74Pro)" "2" "0000411124" "00024200" "99" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Arg208Pro)" "6" "0000411125" "00024200" "99" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Arg208Pro)" "6" "0000411126" "00024200" "99" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Arg208Pro)" "6" "0000411127" "00024200" "99" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Arg208Pro)" "6" "0000411128" "00024200" "99" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Leu166Pro)" "5" "0000411129" "00024200" "99" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Leu166Pro)" "5" "0000411130" "00024200" "99" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Leu166Pro)" "5" "0000411131" "00024200" "99" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Leu166Pro)" "5" "0000411132" "00024200" "99" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Cys169Tyr)" "5" "0000411133" "00024200" "99" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Cys169Tyr)" "5" "0000411134" "00024200" "99" "148" "0" "148" "0" "c.148A>C" "r.(?)" "p.(Met50Leu)" "1" "0000411135" "00024200" "99" "148" "0" "148" "0" "c.148A>C" "r.(?)" "p.(Met50Leu)" "1" "0000411136" "00024200" "99" "148" "0" "148" "0" "c.148A>C" "r.(?)" "p.(Met50Leu)" "1" "0000411137" "00024200" "99" "148" "0" "148" "0" "c.148A>C" "r.(?)" "p.(Met50Leu)" "1" "0000411138" "00024200" "99" "590" "0" "590" "0" "c.590T>C" "r.(?)" "p.(Leu197Pro)" "6" "0000411139" "00024200" "99" "590" "0" "590" "0" "c.590T>C" "r.(?)" "p.(Leu197Pro)" "6" "0000411140" "00024200" "99" "202" "0" "202" "0" "c.202G>T" "r.(?)" "p.(Gly68Cys)" "2" "0000411141" "00024200" "99" "202" "0" "202" "0" "c.202G>T" "r.(?)" "p.(Gly68Cys)" "2" "0000411142" "00024200" "99" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000411143" "00024200" "99" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000411144" "00024200" "99" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000411145" "00024200" "99" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.(Asn92Asp)" "2" "0000411146" "00024200" "99" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.(Asn92Asp)" "2" "0000411147" "00024200" "99" "133" "0" "133" "0" "c.133T>A" "r.(?)" "p.(Trp45Arg)" "1" "0000411148" "00024200" "99" "133" "0" "133" "0" "c.133T>A" "r.(?)" "p.(Trp45Arg)" "1" "0000411149" "00024200" "99" "133" "0" "133" "0" "c.133T>A" "r.(?)" "p.(Trp45Arg)" "1" "0000411150" "00024200" "99" "133" "0" "133" "0" "c.133T>A" "r.(?)" "p.(Trp45Arg)" "1" "0000411151" "00024200" "99" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ala75Val)" "2" "0000411152" "00024200" "99" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ala75Val)" "2" "0000411153" "00024200" "99" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ala75Val)" "2" "0000411154" "00024200" "99" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Ala75Val)" "2" "0000411155" "00024200" "99" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Cys169Tyr)" "5" "0000411156" "00024200" "99" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Cys169Tyr)" "5" "0000411157" "00024200" "99" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Thr136Met)" "4" "0000411158" "00024200" "99" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.(Ala74Pro)" "2" "0000411159" "00024200" "99" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.(Ala74Pro)" "2" "0000411160" "00024200" "99" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.(Ala74Pro)" "2" "0000411161" "00024200" "99" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.(Ala74Pro)" "2" "0000411162" "00024200" "99" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(His147Tyr)" "4" "0000411163" "00024200" "99" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(His147Tyr)" "4" "0000411164" "00024200" "99" "328" "0" "328" "0" "c.328G>T" "r.(?)" "p.(Val110Phe)" "3" "0000411165" "00024200" "99" "328" "0" "328" "0" "c.328G>T" "r.(?)" "p.(Val110Phe)" "3" "0000411166" "00024200" "99" "476" "0" "476" "0" "c.476T>C" "r.(?)" "p.(Leu159Pro)" "5" "0000411167" "00024200" "99" "476" "0" "476" "0" "c.476T>C" "r.(?)" "p.(Leu159Pro)" "5" "0000411168" "00024200" "99" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Thr136Met)" "4" "0000411169" "00024200" "99" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Thr136Met)" "4" "0000411170" "00024200" "99" "152" "0" "152" "0" "c.152A>C" "r.(?)" "p.(His51Pro)" "1" "0000411171" "00024200" "99" "152" "0" "152" "0" "c.152A>C" "r.(?)" "p.(His51Pro)" "1" "0000411172" "00024200" "99" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Asp135Asn)" "4" "0000411173" "00024200" "99" "133" "0" "133" "0" "c.133T>A" "r.(?)" "p.(Trp45Arg)" "1" "0000411174" "00024200" "99" "202" "0" "202" "0" "c.202G>T" "r.(?)" "p.(Gly68Cys)" "2" "0000411175" "00024200" "99" "202" "0" "202" "0" "c.202G>T" "r.(?)" "p.(Gly68Cys)" "2" "0000411176" "00024200" "99" "590" "0" "590" "0" "c.590T>C" "r.(?)" "p.(Leu197Pro)" "6" "0000411177" "00024200" "99" "590" "0" "590" "0" "c.590T>C" "r.(?)" "p.(Leu197Pro)" "6" "0000411178" "00024200" "11" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Tyr27His)" "1" "0000411179" "00024200" "11" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Tyr27His)" "1" "0000411180" "00024200" "95" "526" "0" "526" "0" "c.526dup" "r.(?)" "p.(Glu176Glyfs*15)" "5" "0000411181" "00024200" "95" "526" "0" "526" "0" "c.526dup" "r.(?)" "p.(Glu176Glyfs*15)" "5" "0000411182" "00024200" "95" "526" "0" "526" "0" "c.526dup" "r.(?)" "p.(Glu176Glyfs*15)" "5" "0000411183" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411185" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411187" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411188" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411189" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411190" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411191" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411192" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411197" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411198" "00024200" "99" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97*)" "2" "0000411199" "00024200" "99" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97*)" "2" "0000411210" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411211" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411212" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411213" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411214" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411215" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411216" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411217" "00024200" "99" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Trp174*)" "5" "0000411218" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411219" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411220" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411221" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411222" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411223" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411224" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411225" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411226" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411227" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411228" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411229" "00024200" "99" "299" "0" "311" "0" "c.299_311dup" "r.(?)" "p.(Arg105Glyfs*26)" "2" "0000411231" "00024200" "99" "299" "0" "311" "0" "c.299_311dup" "r.(?)" "p.(Arg105Glyfs*26)" "2" "0000411234" "00024200" "99" "299" "0" "311" "0" "c.299_311dup" "r.(?)" "p.(Arg105Glyfs*26)" "2" "0000411235" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411236" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411237" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411238" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411239" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411240" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411241" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411242" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411243" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411244" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411245" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411246" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411247" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411248" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411249" "00024200" "99" "59" "0" "59" "0" "c.59G>C" "r.(?)" "p.(Trp20Ser)" "1" "0000411250" "00024200" "99" "491" "0" "491" "0" "c.491dup" "r.(?)" "p.(Val165Argfs*26)" "5" "0000411251" "00024200" "99" "491" "0" "491" "0" "c.491dup" "r.(?)" "p.(Val165Argfs*26)" "5" "0000411257" "00024200" "99" "299" "0" "311" "0" "c.299_311dup" "r.(?)" "p.(Arg105Glyfs*26)" "2" "0000411258" "00024200" "99" "299" "0" "311" "0" "c.299_311dup" "r.(?)" "p.(Arg105Glyfs*26)" "2" "0000411259" "00024200" "99" "299" "0" "311" "0" "c.299_311dup" "r.(?)" "p.(Arg105Glyfs*26)" "2" "0000411260" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411261" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411262" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411263" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411264" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411265" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411266" "00024200" "99" "522" "0" "522" "0" "c.522G>A" "r.(?)" 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"p.(Lys109=)" "2" "0000411407" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411408" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411409" "00024200" "99" "327" "0" "327" "0" "c.327G>A" "r.spl?" "p.(Lys109=)" "2" "0000411410" "00024200" "99" "491" "0" "491" "0" "c.491dup" "r.(?)" "p.(Val165Argfs*26)" "5" "0000411411" "00024200" "99" "491" "0" "491" "0" "c.491dup" "r.(?)" "p.(Val165Argfs*26)" "5" "0000411412" "00024200" "99" "491" "0" "491" "0" "c.491dup" "r.(?)" "p.(Val165Argfs*26)" "5" "0000411413" "00024200" "99" "491" "0" "491" "0" "c.491dup" "r.(?)" "p.(Val165Argfs*26)" "5" "0000411414" "00024200" "99" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97*)" "2" "0000411415" "00024200" "99" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97*)" "2" "0000411416" "00024200" "99" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97*)" "2" "0000411417" "00024200" "99" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97*)" "2" "0000411418" "00024200" "99" "133" "0" "133" "0" "c.133T>A" "r.(?)" "p.Trp45Arg" "1" "0000411419" "00024200" "99" "148" "0" "148" "0" "c.148A>C" "r.(?)" "p.Met50Leu" "1" "0000411420" "00024200" "99" "152" "0" "152" "0" "c.152A>C" "r.(?)" "p.His51Pro" "1" "0000411421" "00024200" "99" "202" "0" "202" "0" "c.202G>T" "r.(?)" "p.Gly68Cys" "2" "0000411422" "00024200" "99" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.Ala74Pro" "2" "0000411423" "00024200" "99" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.Ala75Val" "2" "0000411424" "00024200" "11" "22" "0" "22" "0" "c.22C>A" "r.(?)" "p.Pro8Thr" "1" "0000411425" "00024200" "99" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.Asn92Asp" "2" "0000411426" "00024200" "99" "328" "0" "328" "0" "c.328G>T" "r.(?)" "p.Val110Phe" "3" "0000411427" "00024200" "99" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.Asp135Asn" "4" "0000411428" "00024200" "99" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.Thr136Met" "4" "0000411429" "00024200" "99" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.His147Tyr" "4" "0000411430" "00024200" "99" "476" "0" "476" "0" "c.476T>C" "r.(?)" "p.Leu159Pro" "5" "0000411431" "00024200" "99" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.Leu166Pro" "5" "0000411432" "00024200" "99" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.Cys169Tyr" "5" "0000411433" "00024200" "99" "590" "0" "590" "0" "c.590T>C" "r.(?)" "p.Leu197Pro" "6" "0000411434" "00024200" "99" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.Arg208Pro" "6" "0000411435" "00024200" "11" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.Tyr27His" "1" "0000566284" "00024200" "10" "2579" "0" "2581" "0" "c.*1868_*1870dup" "r.(=)" "p.(=)" "" "0000566285" "00024200" "10" "2579" "0" "2581" "0" "c.*1868_*1870dup" "r.(=)" "p.(=)" "" "0000566286" "00024200" "30" "642" "0" "642" "0" "c.642G>A" "r.(?)" "p.(Leu214=)" "" "0000566287" "00024200" "30" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Val194Ala)" "" "0000566288" "00024200" "30" "570" "241" "570" "241" "c.570+241G>C" "r.(=)" "p.(=)" "" "0000566289" "00024200" "10" "570" "165" "570" "165" "c.570+165G>A" "r.(=)" "p.(=)" "" "0000566290" "00024200" "10" "570" "165" "570" "165" "c.570+165G>A" "r.(=)" "p.(=)" "" "0000566291" "00024200" "30" "570" "153" "570" "153" "c.570+153C>A" "r.(=)" "p.(=)" "" "0000566293" "00024200" "10" "392" "-7" "392" "-7" "c.392-7C>T" "r.(=)" "p.(=)" "" "0000566294" "00024200" "10" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Leu116=)" "" "0000566295" "00024200" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Asp93=)" "" "0000566296" "00024200" "30" "182" "-18" "182" "-18" "c.182-18C>T" "r.(=)" "p.(=)" "" "0000566297" "00024200" "90" "133" "0" "133" "0" "c.133T>A" "r.(?)" "p.(Trp45Arg)" "" "0000566298" "00024200" "50" "122" "0" "122" "0" "c.122T>A" "r.(?)" "p.(Val41Glu)" "" "0000566299" "00024200" "30" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Tyr27His)" "" "0000566300" "00024200" "30" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Tyr27His)" "" "0000623944" "00024200" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Cys16=)" "" "0000649906" "00024200" "90" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Gly164Asp)" "" "0000658505" "00024200" "90" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(Lys109=)" "" "0000658506" "00024200" "30" "54" "0" "54" "0" "c.54C>T" "r.(?)" "p.(Pro18=)" "" "0000681305" "00024200" "50" "133" "0" "133" "0" "c.133T>A" "r.(?)" "p.(Trp45Arg)" "" "0000787478" "00024200" "90" "491" "0" "491" "0" "c.491dup" "r.(?)" "p.(Val165ArgfsTer26)" "5" "0000808712" "00024200" "30" "642" "0" "642" "0" "c.642G>A" "r.(?)" "p.(Leu214=)" "" "0000808713" "00024200" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Asp93=)" "" "0000817878" "00024200" "90" "491" "0" "491" "0" "c.491del" "p.Gly164Alafs*14" "p.(Gly164AlafsTer14)" "" "0000817883" "00024200" "90" "491" "0" "491" "0" "c.491del" "p.Gly164Alafs*14" "p.(Gly164AlafsTer14)" "" "0000821048" "00024200" "90" "327" "0" "327" "0" "c.327G>A" "r.spl" "p.?" "2" "0000855461" "00024200" "50" "553" "0" "553" "0" "c.553A>C" "r.(?)" "p.(Ile185Leu)" "" "0000855462" "00024200" "90" "491" "0" "491" "0" "c.491dup" "r.(?)" "p.(Val165Argfs*26)" "" "0000865904" "00024200" "30" "707" "0" "707" "0" "c.707G>C" "r.(?)" "p.(Gly236Ala)" "" "0000865905" "00024200" "90" "460" "-1" "460" "-1" "c.460-1G>A" "r.spl?" "p.?" "" "0000926823" "00024200" "90" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Cys169Arg)" "" "0000983237" "00024200" "50" "509" "0" "509" "0" "c.509A>G" "r.(?)" "p.(Asn170Ser)" "" "0000983238" "00024200" "50" "38" "0" "38" "0" "c.38G>C" "r.(?)" "p.(Gly13Ala)" "" "0000983239" "00024200" "50" "22" "0" "22" "0" "c.22C>A" "r.(?)" "p.(Pro8Thr)" "" "0001004413" "00024200" "50" "4764" "0" "4764" "0" "c.*4053C>T" "r.(=)" "p.(=)" "" "0001042665" "00024200" "50" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Pro231Ser)" "" "0001042666" "00024200" "50" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Ser76Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 262 "{{screeningid}}" "{{variantid}}" "0000081090" "0000130176" "0000185600" "0000411118" "0000185600" "0000411180" "0000185601" "0000411119" "0000185601" "0000411181" "0000185602" "0000411182" "0000185603" "0000411120" "0000185604" "0000411183" "0000185605" "0000411185" "0000185606" "0000411121" "0000185606" "0000411187" "0000185607" "0000411122" "0000185608" "0000411188" "0000185609" "0000411189" "0000185609" "0000411190" "0000185610" "0000411191" "0000185610" "0000411192" "0000185614" "0000411123" "0000185614" "0000411197" "0000185615" "0000411124" "0000185615" "0000411125" "0000185616" "0000411126" "0000185617" "0000411127" "0000185618" "0000411198" "0000185618" "0000411199" "0000185620" "0000411128" "0000185620" "0000411129" "0000185621" "0000411130" "0000185622" "0000411131" "0000185627" "0000411132" "0000185627" "0000411133" "0000185628" "0000411210" "0000185628" "0000411211" "0000185629" "0000411212" "0000185629" "0000411213" "0000185630" "0000411214" "0000185631" "0000411215" "0000185632" "0000411216" "0000185632" "0000411217" "0000185633" "0000411218" "0000185633" "0000411219" "0000185634" "0000411220" "0000185635" "0000411221" "0000185635" "0000411222" "0000185636" "0000411223" "0000185636" "0000411224" "0000185637" "0000411225" "0000185638" "0000411226" "0000185639" "0000411227" "0000185639" "0000411228" "0000185640" "0000411134" "0000185640" "0000411135" "0000185641" "0000411136" "0000185642" "0000411137" "0000185643" "0000411229" "0000185644" "0000411231" "0000185646" "0000411234" "0000185647" "0000411235" "0000185647" "0000411236" "0000185648" "0000411237" "0000185648" "0000411238" "0000185649" "0000411239" "0000185650" "0000411240" "0000185651" "0000411241" "0000185651" "0000411242" "0000185652" "0000411243" "0000185652" "0000411244" "0000185653" "0000411245" "0000185654" "0000411246" "0000185655" "0000411247" "0000185656" "0000411248" "0000185656" "0000411249" "0000185657" "0000411250" "0000185657" "0000411251" "0000185660" "0000411139" "0000185663" "0000411140" "0000185663" "0000411141" "0000185664" "0000411142" "0000185664" "0000411257" "0000185665" "0000411143" "0000185665" "0000411258" "0000185666" "0000411144" "0000185667" "0000411259" "0000185668" "0000411260" "0000185668" "0000411261" "0000185669" "0000411262" "0000185670" "0000411263" "0000185671" "0000411145" "0000185671" "0000411146" "0000185672" "0000411147" "0000185672" "0000411264" "0000185673" "0000411265" "0000185674" "0000411148" "0000185675" "0000411266" "0000185675" "0000411267" "0000185676" "0000411268" "0000185677" "0000411149" "0000185677" "0000411269" "0000185678" "0000411150" "0000185679" "0000411270" "0000185680" "0000411271" "0000185681" "0000411273" "0000185682" "0000411275" "0000185684" "0000411151" "0000185684" "0000411152" "0000185685" "0000411153" "0000185686" "0000411154" "0000185689" "0000411277" "0000185689" "0000411278" "0000185690" "0000411279" "0000185691" "0000411155" "0000185691" "0000411156" "0000185692" "0000411280" "0000185692" "0000411281" "0000185693" "0000411282" "0000185693" "0000411283" "0000185694" "0000411157" "0000185694" "0000411284" "0000185695" "0000411285" "0000185695" "0000411286" "0000185696" "0000411158" "0000185696" "0000411159" "0000185697" "0000411160" "0000185698" "0000411161" "0000185699" "0000411162" "0000185699" "0000411287" "0000185700" "0000411163" "0000185700" "0000411288" "0000185701" "0000411164" "0000185701" "0000411289" "0000185702" "0000411290" "0000185703" "0000411165" "0000185704" "0000411166" "0000185704" "0000411167" "0000185705" "0000411168" "0000185705" "0000411169" "0000185706" "0000411291" "0000185706" "0000411292" "0000185707" "0000411293" "0000185707" "0000411294" "0000185713" "0000411302" "0000185713" "0000411303" "0000185714" "0000411304" "0000185714" "0000411305" "0000185715" "0000411306" "0000185716" "0000411307" "0000185717" "0000411115" "0000185717" "0000411116" "0000185718" "0000411117" "0000185719" "0000411178" "0000185719" "0000411179" "0000185720" "0000411308" "0000185720" "0000411309" "0000185721" "0000411310" "0000185721" "0000411311" "0000185722" "0000411312" "0000185723" "0000411313" "0000185724" "0000411170" "0000185724" "0000411314" "0000185725" "0000411315" "0000185726" "0000411171" "0000185727" "0000411316" "0000185727" "0000411317" "0000185728" "0000411318" "0000185729" "0000411319" "0000185730" "0000411320" "0000185730" "0000411321" "0000185731" "0000411322" "0000185732" "0000411323" "0000185733" "0000411324" "0000185733" "0000411325" "0000185734" "0000411326" "0000185735" "0000411327" "0000185736" "0000411328" "0000185736" "0000411329" "0000185737" "0000411172" "0000185737" "0000411330" "0000185738" "0000411331" "0000185738" "0000411332" "0000185739" "0000411333" "0000185739" "0000411334" "0000185740" "0000411335" "0000185740" "0000411336" "0000185741" "0000411337" "0000185741" "0000411338" "0000185742" "0000411339" "0000185742" "0000411340" "0000185743" "0000411341" "0000185743" "0000411342" "0000185744" "0000411343" "0000185745" "0000411344" "0000185746" "0000411345" "0000185746" "0000411346" "0000185747" "0000411347" "0000185747" "0000411348" "0000185748" "0000411349" "0000185749" "0000411350" "0000185750" "0000411351" "0000185750" "0000411352" "0000185751" "0000411353" "0000185751" "0000411354" "0000185752" "0000411355" "0000185752" "0000411356" "0000185753" "0000411357" "0000185753" "0000411358" "0000185754" "0000411359" "0000185754" "0000411360" "0000185755" "0000411361" "0000185755" "0000411362" "0000185756" "0000411363" "0000185756" "0000411364" "0000185757" "0000411365" "0000185757" "0000411366" "0000185758" "0000411367" "0000185758" "0000411368" "0000185759" "0000411173" "0000185759" "0000411369" "0000185760" "0000411370" "0000185760" "0000411371" "0000185761" "0000411372" "0000185761" "0000411373" "0000185762" "0000411174" "0000185762" "0000411175" "0000185763" "0000411176" "0000185763" "0000411177" "0000185764" "0000411374" "0000185764" "0000411375" "0000185765" "0000411376" "0000185765" "0000411377" "0000185766" "0000411378" "0000185767" "0000411379" "0000185768" "0000411380" "0000185768" "0000411381" "0000185769" "0000411382" "0000185770" "0000411383" "0000185771" "0000411384" "0000185771" "0000411385" "0000185772" "0000411386" "0000185772" "0000411387" "0000185773" "0000411388" "0000185774" "0000411389" "0000185775" "0000411390" "0000185775" "0000411391" "0000185776" "0000411392" "0000185777" "0000411393" "0000185786" "0000411406" "0000185786" "0000411407" "0000185787" "0000411408" "0000185788" "0000411409" "0000185789" "0000411410" "0000185789" "0000411411" "0000185790" "0000411412" "0000185791" "0000411413" "0000185792" "0000411414" "0000185792" "0000411415" "0000185793" "0000411416" "0000185794" "0000411417" "0000293217" "0000649906" "0000375515" "0000787478" "0000389085" "0000817878" "0000389090" "0000817883" "0000391310" "0000821048"