### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GATM) # 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}}" "GATM" "glycine amidinotransferase (L-arginine:glycine amidinotransferase)" "15" "q15.1" "unknown" "NG_011674.1" "UD_132119003503" "" "http://www.LOVD.nl/GATM" "" "1" "4175" "2628" "602360" "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/GATM_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-05-07 00:00:00" "00006" "2016-11-16 21:44:59" "00000" "2023-01-11 15:44:22" ## 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}}" "00008376" "GATM" "glycine amidinotransferase (L-arginine:glycine amidinotransferase)" "001" "NM_001482.2" "" "NP_001473.1" "" "" "" "-329" "2257" "1272" "45670980" "45653322" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "03185" "CCDS" "deficiency, cerebral creatine, syndrome (CCDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-07 10:08:15" "05493" "CCDS3;GATMD" "deficiency, cerebral creatine, syndrome, type 3 (CCDS3, arginine-glycine amidinotransferase deficiency (GAMTD))" "AR" "612718" "" "" "" "00006" "2018-10-31 09:04:35" "00006" "2020-05-07 10:09:10" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GATM" "00139" "GATM" "03185" "GATM" "05493" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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}}" "00184566" "" "" "" "1" "" "01815" "{PMID:Bianchi 2000:10762163}, {PMID:Item 2001:11555793}" "" "F" "" "" "" "0" "" "" "" "" "00184567" "" "" "" "1" "" "01815" "{PMID:Bianchi 2000:10762163}, {PMID:Item 2001:11555793}" "" "F" "" "" "" "0" "" "" "" "" "00184568" "" "" "" "1" "" "01815" "{PMID:Battini 2006:16769397}" "" "M" "" "" "" "0" "" "" "" "" "00184569" "" "" "" "1" "" "01815" "{PMID:Batinni 2002:12468279}" "" "M" "" "" "" "0" "" "" "" "" "00184570" "" "" "" "1" "" "01815" "{DOI:Salomons 2005:10.1007/s10545-004-0001-x}, Ndika et al in press" "" "F" "" "" "" "0" "" "" "" "" "00184571" "" "" "" "1" "" "01815" "{PMID:Verma 2010:20625172}" "" "F" "" "" "" "0" "" "" "" "" "00184572" "" "" "" "1" "" "01815" "{PMID:Verma 2010:20625172}" "" "M" "" "" "" "0" "" "" "" "" "00184573" "" "" "" "1" "" "01815" "{PMID:Edvardson 2010:20682460}" "" "M" "" "" "" "0" "" "" "" "" "00184574" "" "" "" "1" "" "01815" "{PMID:Edvardson 2010:20682460}" "" "F" "" "" "" "0" "" "" "" "" "00184579" "" "" "" "1" "" "01815" "{PMID:Nouioua 2013:23770102}" "" "F" "" "France" "" "0" "" "" "" "" "00184580" "" "" "" "1" "" "01815" "{PMID:Nouioua 2013:23770102}" "" "F" "" "France" "" "0" "" "" "" "" "00184581" "" "" "" "1" "" "01815" "{DOI:Salomons 2005:10.1007/s10545-004-0001-x}, Ndika et al in press" "" "F" "" "" "" "0" "" "" "" "" "00184582" "" "" "" "1" "" "01815" "{DOI:Salomons 2005:10.1007/s10545-004-0001-x}, Ndika et al in press" "" "M" "" "" "" "0" "" "" "" "" "00184583" "" "" "" "1" "" "01815" "{PMID:Nouioua 2013:23770102}" "" "F" "" "" "" "0" "" "" "" "" "00184584" "" "" "" "1" "" "01815" "{PMID:Nouioua 2013:23770102}" "" "F" "" "" "" "0" "" "" "" "" "00184585" "" "" "" "1" "" "01815" "{PMID:Nouioua 2013:23770102}" "" "F" "" "" "" "0" "" "" "" "" "00184586" "" "" "" "1" "" "01815" "{PMID:Nouioua 2013:23770102}" "" "M" "" "" "" "0" "" "" "" "" "00184587" "" "" "" "1" "" "01815" "{PMID:Comeaux 2013:23660394}" "" "F" "" "" "" "0" "" "" "" "" "00184588" "" "" "" "1" "" "01815" "{PMID:Comeaux 2013:23660394}" "" "M" "" "" "" "0" "" "" "" "" "00184589" "" "" "" "1" "" "01815" "{PMID:Comeaux 2013:23660394}" "" "M" "" "" "" "0" "" "" "" "" "00184592" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}, {PMID:Comeaux 2013:23660394}" "patient xx" "M" "" "" "" "0" "" "" "" "" "00184593" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}, {PMID:Comeaux 2013:23660394}" "patient xx" "M" "" "" "" "0" "" "" "" "" "00184594" "" "" "" "1" "" "02596" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:DesRoches 2016:27233232}" "patient 16" "M" "" "" "" "0" "" "" "" "" "00184595" "" "" "" "1" "" "02596" "{PMID:Nouioua 2013:23770102}, {PMID:DesRoches 2016:27233232}" "patient xx" "F" "" "" "" "0" "" "" "" "" "00184596" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184597" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184598" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184599" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184600" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184601" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184602" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184603" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184604" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184605" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184606" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184607" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184608" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184609" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184610" "" "" "" "1" "" "02596" "{PMID:DesRoches 2016:27233232}" "" "" "" "" "" "0" "" "" "" "" "00184611" "" "" "" "1" "" "01815" "{PMID:Stockler 2015:26490222}" "" "F" "" "" "" "0" "" "" "" "" "00184612" "" "" "" "1" "" "01815" "{PMID:Stockler 2015:26490222}" "" "M" "" "" "" "0" "" "" "" "" "00184613" "" "" "" "1" "" "01815" "{PMID:Stockler 2015:26490222}" "" "F" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 42 "{{individualid}}" "{{diseaseid}}" "00184566" "05493" "00184567" "05493" "00184568" "05493" "00184569" "05493" "00184570" "05493" "00184571" "05493" "00184572" "05493" "00184573" "05493" "00184574" "05493" "00184579" "05493" "00184580" "05493" "00184581" "00000" "00184582" "00000" "00184583" "05493" "00184584" "05493" "00184585" "00000" "00184586" "00000" "00184587" "05493" "00184588" "05493" "00184589" "05493" "00184592" "05493" "00184593" "05493" "00184594" "05493" "00184595" "05493" "00184596" "05493" "00184597" "05493" "00184598" "05493" "00184599" "05493" "00184600" "05493" "00184601" "05493" "00184602" "05493" "00184603" "05493" "00184604" "05493" "00184605" "05493" "00184606" "05493" "00184607" "05493" "00184608" "05493" "00184609" "05493" "00184610" "05493" "00184611" "05493" "00184612" "05493" "00184613" "05493" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 03185, 05493 ## Count = 38 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000144696" "05493" "00184566" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144697" "05493" "00184567" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144698" "05493" "00184568" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144699" "05493" "00184569" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144700" "05493" "00184570" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144701" "05493" "00184571" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144702" "05493" "00184572" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144703" "05493" "00184573" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144704" "05493" "00184574" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144709" "05493" "00184579" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144710" "05493" "00184580" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144713" "05493" "00184583" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144714" "05493" "00184584" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144717" "05493" "00184587" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144718" "05493" "00184588" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144719" "05493" "00184589" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144722" "05493" "00184592" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144723" "05493" "00184593" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144724" "05493" "00184594" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144725" "05493" "00184595" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144726" "05493" "00184596" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144727" "05493" "00184597" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144728" "05493" "00184598" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144729" "05493" "00184599" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144730" "05493" "00184600" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144731" "05493" "00184601" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144732" "05493" "00184602" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144733" "05493" "00184603" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144734" "05493" "00184604" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144735" "05493" "00184605" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144736" "05493" "00184606" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144737" "05493" "00184607" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144738" "05493" "00184608" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144739" "05493" "00184609" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144740" "05493" "00184610" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144741" "05493" "00184611" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144742" "05493" "00184612" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" "0000144743" "05493" "00184613" "01815" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "CCDS-3" "GAMT deficiency" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000185533" "00184566" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185534" "00184567" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185535" "00184568" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185536" "00184569" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185537" "00184570" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185538" "00184571" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185539" "00184572" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185540" "00184573" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185541" "00184574" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185546" "00184579" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185547" "00184580" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185548" "00184581" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185549" "00184582" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185550" "00184583" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185551" "00184584" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185552" "00184585" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185553" "00184586" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185554" "00184587" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185555" "00184588" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185556" "00184589" "1" "01815" "01815" "2016-01-07 15:03:41" "" "" "SEQ" "DNA" "" "" "0000185559" "00184592" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185560" "00184593" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185561" "00184594" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185562" "00184595" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185563" "00184596" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185564" "00184597" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185565" "00184598" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185566" "00184599" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185567" "00184600" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185568" "00184601" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185569" "00184602" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185570" "00184603" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185571" "00184604" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185572" "00184605" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185573" "00184606" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185574" "00184607" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185575" "00184608" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185576" "00184609" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185577" "00184610" "1" "02596" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185578" "00184611" "1" "01815" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185579" "00184612" "1" "01815" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" "0000185580" "00184613" "1" "01815" "01815" "2016-08-30 16:36:34" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000185533" "GATM" "0000185534" "GATM" "0000185535" "GATM" "0000185536" "GATM" "0000185537" "GATM" "0000185538" "GATM" "0000185539" "GATM" "0000185540" "GATM" "0000185541" "GATM" "0000185546" "GATM" "0000185547" "GATM" "0000185548" "GATM" "0000185549" "GATM" "0000185550" "GATM" "0000185551" "GATM" "0000185552" "GATM" "0000185553" "GATM" "0000185554" "GATM" "0000185555" "GATM" "0000185556" "GATM" "0000185559" "GATM" "0000185560" "GATM" "0000185561" "GATM" "0000185562" "GATM" "0000185563" "GATM" "0000185564" "GATM" "0000185565" "GATM" "0000185566" "GATM" "0000185567" "GATM" "0000185568" "GATM" "0000185569" "GATM" "0000185570" "GATM" "0000185571" "GATM" "0000185572" "GATM" "0000185573" "GATM" "0000185574" "GATM" "0000185575" "GATM" "0000185576" "GATM" "0000185577" "GATM" "0000185578" "GATM" "0000185579" "GATM" "0000185580" "GATM" ## 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 = 118 "{{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}}" "0000277024" "0" "10" "15" "45661678" "45661678" "subst" "0.419284" "02330" "GATM_000003" "g.45661678T>A" "" "" "" "GATM(NM_001482.3):c.330A>T (p.Q110H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45369480T>A" "" "benign" "" "0000277025" "0" "30" "15" "45670570" "45670570" "subst" "0.000607368" "02330" "GATM_000004" "g.45670570G>A" "" "" "" "GATM(NM_001482.3):c.69+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45378372G>A" "" "likely benign" "" "0000280999" "0" "10" "15" "45661678" "45661678" "subst" "0.419284" "02325" "GATM_000003" "g.45661678T>A" "" "" "" "GATM(NM_001482.3):c.330A>T (p.Q110H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45369480T>A" "" "benign" "" "0000281000" "0" "30" "15" "45670570" "45670570" "subst" "0.000607368" "02325" "GATM_000004" "g.45670570G>A" "" "" "" "GATM(NM_001482.3):c.69+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45378372G>A" "" "likely benign" "" "0000283349" "0" "50" "15" "45654341" "45654341" "subst" "0" "02329" "GATM_000002" "g.45654341C>T" "" "" "" "GATM(NM_001482.3):c.1238G>A (p.R413Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45362143C>T" "" "VUS" "" "0000288234" "0" "50" "15" "45654335" "45654335" "subst" "0.000171212" "01943" "GATM_000001" "g.45654335C>T" "" "" "" "GATM(NM_001321015.1):c.857G>A (p.R286Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45362137C>T" "" "VUS" "" "0000410985" "3" "99" "15" "45661523" "45661523" "subst" "0.000004062" "01815" "GATM_009002" "g.45661523C>A" "" "{PMID:Ndika 2012:22386970}, {DOI:Salomons 2005:10.1007/s10545-004-0001-x}" "" "IVS3+1G>T" "pathogenic, erroneous splicing was demonstrated" "Germline" "" "" "0" "" "" "g.45369325C>A" "" "pathogenic (recessive)" "" "0000410986" "1" "99" "15" "45661523" "45661523" "subst" "0.000004062" "01815" "GATM_009002" "g.45661523C>A" "" "{PMID:Ndika 2012:22386970}, {DOI:Salomons 2005:10.1007/s10545-004-0001-x}" "" "IVS3+1G>T" "pathogenic, erroneous splicing was demonstrated" "Germline" "" "" "0" "" "" "g.45369325C>A" "" "pathogenic (recessive)" "" "0000410987" "1" "99" "15" "45661523" "45661523" "subst" "0.000004062" "01815" "GATM_009002" "g.45661523C>A" "" "{PMID:Ndika 2012:22386970}, {DOI:Salomons 2005:10.1007/s10545-004-0001-x}" "" "IVS3+1G>T" "pathogenic, erroneous splicing was demonstrated" "Germline" "" "" "0" "" "" "g.45369325C>A" "" "pathogenic (recessive)" "" "0000410988" "1" "99" "15" "45654342" "45654342" "subst" "0" "01815" "GATM_009010" "g.45654342G>A" "" "{PMID:Comeaux 2013:23660394}, {PMID:Stockler 2015:26490222}" "" "p.R413W" "Patient A2 in Comeaux et al, 2013" "Germline" "" "" "0" "" "" "g.45362144G>A" "" "pathogenic (recessive)" "" "0000410989" "2" "99" "15" "45654341" "45654341" "subst" "0" "01815" "GATM_000002" "g.45654341C>T" "" "{PMID:Comeaux 2013:23660394}" "" "p.R413Q" "Patient A2 in Comeaux et al, 2013" "Germline" "" "" "0" "" "" "g.45362143C>T" "" "pathogenic (recessive)" "" "0000410990" "1" "97" "15" "45661694" "45661694" "subst" "0" "02596" "GATM_009045" "g.45661694G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45369496G>A" "" "pathogenic (recessive)" "" "0000410991" "2" "97" "15" "45661694" "45661694" "subst" "0" "02596" "GATM_009045" "g.45661694G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45369496G>A" "" "pathogenic (recessive)" "" "0000410992" "1" "97" "15" "45654342" "45654342" "subst" "0" "02596" "GATM_009010" "g.45654342G>A" "" "{PMID:DesRoches 2016:27233232}, {PMID:Comeaux 2013:23660394}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45362144G>A" "" "pathogenic (recessive)" "" "0000410993" "2" "97" "15" "45654342" "45654342" "subst" "0" "02596" "GATM_009010" "g.45654342G>A" "" "{PMID:DesRoches 2016:27233232}, {PMID:Comeaux 2013:23660394}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45362144G>A" "" "pathogenic (recessive)" "" "0000410994" "1" "97" "15" "45660335" "45660335" "subst" "0" "02596" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}, {PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000410995" "2" "97" "15" "45660335" "45660335" "subst" "0" "02596" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}, {PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000410996" "1" "97" "15" "45660402" "45660402" "subst" "0.000004062" "02596" "GATM_009046" "g.45660402C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368204C>T" "" "pathogenic (recessive)" "" "0000410997" "2" "97" "15" "45660402" "45660402" "subst" "0.000004062" "02596" "GATM_009046" "g.45660402C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368204C>T" "" "pathogenic (recessive)" "" "0000410998" "1" "97" "15" "45660378" "45660378" "subst" "0.00000812381" "02596" "GATM_009047" "g.45660378G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368180G>A" "" "pathogenic (recessive)" "" "0000410999" "2" "97" "15" "45660378" "45660378" "subst" "0.00000812381" "02596" "GATM_009047" "g.45660378G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368180G>A" "" "pathogenic (recessive)" "" "0000411000" "1" "97" "15" "45660321" "45660321" "subst" "0.00000812473" "02596" "GATM_009048" "g.45660321C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368123C>T" "" "pathogenic (recessive)" "" "0000411001" "2" "97" "15" "45660321" "45660321" "subst" "0.00000812473" "02596" "GATM_009048" "g.45660321C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368123C>T" "" "pathogenic (recessive)" "" "0000411002" "1" "97" "15" "45654341" "45654341" "subst" "0" "02596" "GATM_000002" "g.45654341C>T" "" "{PMID:DesRoches 2016:27233232}, {PMID:Comeaux 2013:23660394}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45362143C>T" "" "pathogenic (recessive)" "" "0000411003" "2" "97" "15" "45654341" "45654341" "subst" "0" "02596" "GATM_000002" "g.45654341C>T" "" "{PMID:DesRoches 2016:27233232}, {PMID:Comeaux 2013:23660394}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45362143C>T" "" "pathogenic (recessive)" "" "0000411004" "1" "13" "15" "45661601" "45661601" "subst" "0.000373704" "02596" "GATM_009037" "g.45661601G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45369403G>A" "" "benign" "" "0000411005" "2" "13" "15" "45661601" "45661601" "subst" "0.000373704" "02596" "GATM_009037" "g.45661601G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45369403G>A" "" "benign" "" "0000411006" "1" "13" "15" "45658690" "45658690" "subst" "0.000105664" "02596" "GATM_009039" "g.45658690G>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45366492G>C" "" "benign" "" "0000411007" "2" "13" "15" "45658690" "45658690" "subst" "0.000105664" "02596" "GATM_009039" "g.45658690G>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45366492G>C" "" "benign" "" "0000411008" "1" "13" "15" "45668810" "45668810" "subst" "0.0000121819" "02596" "GATM_009035" "g.45668810T>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45376612T>C" "" "benign" "" "0000411009" "2" "13" "15" "45668810" "45668810" "subst" "0.0000121819" "02596" "GATM_009035" "g.45668810T>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45376612T>C" "" "benign" "" "0000411010" "1" "97" "15" "45660390" "45660390" "subst" "0" "02596" "GATM_009033" "g.45660390C>G" "" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368192C>G" "" "pathogenic (recessive)" "" "0000411011" "2" "97" "15" "45660390" "45660390" "subst" "0" "02596" "GATM_009033" "g.45660390C>G" "" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368192C>G" "" "pathogenic (recessive)" "" "0000411012" "1" "13" "15" "45670584" "45670584" "subst" "0" "02596" "GATM_009034" "g.45670584C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45378386C>T" "" "benign" "" "0000411013" "2" "13" "15" "45670584" "45670584" "subst" "0" "02596" "GATM_009034" "g.45670584C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45378386C>T" "" "benign" "" "0000411014" "1" "13" "15" "45661702" "45661702" "subst" "0.00000406815" "02596" "GATM_009036" "g.45661702C>G" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45369504C>G" "" "benign" "" "0000411015" "2" "13" "15" "45661702" "45661702" "subst" "0.00000406815" "02596" "GATM_009036" "g.45661702C>G" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45369504C>G" "" "benign" "" "0000411016" "1" "13" "15" "45654335" "45654335" "subst" "0.000171212" "02596" "GATM_000001" "g.45654335C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45362137C>T" "" "benign" "" "0000411017" "2" "13" "15" "45654335" "45654335" "subst" "0.000171212" "02596" "GATM_000001" "g.45654335C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45362137C>T" "" "benign" "" "0000411018" "1" "97" "15" "45657000" "45657000" "subst" "0.00000406223" "02596" "GATM_009044" "g.45657000G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45364802G>A" "" "pathogenic (recessive)" "" "0000411019" "2" "97" "15" "45657000" "45657000" "subst" "0.00000406223" "02596" "GATM_009044" "g.45657000G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45364802G>A" "" "pathogenic (recessive)" "" "0000411020" "1" "97" "15" "45657052" "45657052" "subst" "0.00000812546" "02596" "GATM_009043" "g.45657052G>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45364854G>C" "" "pathogenic (recessive)" "" "0000411021" "2" "97" "15" "45657052" "45657052" "subst" "0.00000812546" "02596" "GATM_009043" "g.45657052G>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45364854G>C" "" "pathogenic (recessive)" "" "0000411022" "1" "13" "15" "45660288" "45660288" "subst" "0.00000406243" "02596" "GATM_009038" "g.45660288C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368090C>T" "" "benign" "" "0000411023" "2" "13" "15" "45660288" "45660288" "subst" "0.00000406243" "02596" "GATM_009038" "g.45660288C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45368090C>T" "" "benign" "" "0000411024" "1" "97" "15" "45658377" "45658377" "subst" "0.0000121931" "02596" "GATM_009042" "g.45658377C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45366179C>T" "" "pathogenic (recessive)" "" "0000411025" "2" "97" "15" "45658377" "45658377" "subst" "0.0000121931" "02596" "GATM_009042" "g.45658377C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45366179C>T" "" "pathogenic (recessive)" "" "0000411026" "1" "13" "15" "45658681" "45658681" "subst" "0.000207221" "02596" "GATM_009040" "g.45658681T>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45366483T>C" "" "benign" "" "0000411027" "2" "13" "15" "45658681" "45658681" "subst" "0.000207221" "02596" "GATM_009040" "g.45658681T>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "variant reported in Exome Variant Server" "Germline" "" "" "0" "" "" "g.45366483T>C" "" "benign" "" "0000411028" "1" "99" "15" "45661562" "45661562" "subst" "0" "01815" "GATM_009001" "g.45661562C>T" "" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:Bianchi 2000:10762163}" "" "c.9297G>A" "" "Germline" "" "" "0" "" "" "g.45369364C>T" "" "pathogenic (recessive)" "" "0000411029" "2" "99" "15" "45661562" "45661562" "subst" "0" "01815" "GATM_009001" "g.45661562C>T" "" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:Bianchi 2000:10762163}" "" "c.9297G>A" "" "Germline" "" "" "0" "" "" "g.45369364C>T" "" "pathogenic (recessive)" "" "0000411030" "1" "99" "15" "45661562" "45661562" "subst" "0" "01815" "GATM_009001" "g.45661562C>T" "" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:Bianchi 2000:10762163}" "" "c.9297G>A" "" "Germline" "" "" "0" "" "" "g.45369364C>T" "" "pathogenic (recessive)" "" "0000411031" "2" "99" "15" "45661562" "45661562" "subst" "0" "01815" "GATM_009001" "g.45661562C>T" "" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:Bianchi 2000:10762163}" "" "c.9297G>A" "" "Germline" "" "" "0" "" "" "g.45369364C>T" "" "pathogenic (recessive)" "" "0000411032" "1" "99" "15" "45661562" "45661562" "subst" "0" "01815" "GATM_009001" "g.45661562C>T" "" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:Bianchi 2000:10762163}" "" "c.9297G>A" "" "Germline" "" "" "0" "" "" "g.45369364C>T" "" "pathogenic (recessive)" "" "0000411033" "2" "99" "15" "45661562" "45661562" "subst" "0" "01815" "GATM_009001" "g.45661562C>T" "" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:Bianchi 2000:10762163}" "" "c.9297G>A" "" "Germline" "" "" "0" "" "" "g.45369364C>T" "" "pathogenic (recessive)" "" "0000411034" "1" "99" "15" "45661562" "45661562" "subst" "0" "01815" "GATM_009001" "g.45661562C>T" "" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:Bianchi 2000:10762163}" "" "c.9297G>A" "" "Germline" "" "" "0" "" "" "g.45369364C>T" "" "pathogenic (recessive)" "" "0000411035" "2" "99" "15" "45661562" "45661562" "subst" "0" "01815" "GATM_009001" "g.45661562C>T" "" "{PMID:Stockler-Ipsiroglu 2015:26490222}, {PMID:Bianchi 2000:10762163}" "" "c.9297G>A" "" "Germline" "" "" "0" "" "" "g.45369364C>T" "" "pathogenic (recessive)" "" "0000411036" "1" "99" "15" "45660438" "45660438" "subst" "0.00000812638" "01815" "GATM_009003" "g.45660438G>A" "" "{PMID:Verma 2010:20625172}" "" "R169X" "" "Germline" "" "" "0" "" "" "g.45368240G>A" "" "pathogenic (recessive)" "" "0000411037" "2" "99" "15" "45660438" "45660438" "subst" "0.00000812638" "01815" "GATM_009003" "g.45660438G>A" "" "{PMID:Verma 2010:20625172}" "" "R169X" "" "Germline" "" "" "0" "" "" "g.45368240G>A" "" "pathogenic (recessive)" "" "0000411038" "1" "99" "15" "45660438" "45660438" "subst" "0.00000812638" "01815" "GATM_009003" "g.45660438G>A" "" "{PMID:Verma 2010:20625172}" "" "R169X" "" "Germline" "" "" "0" "" "" "g.45368240G>A" "" "pathogenic (recessive)" "" "0000411039" "2" "99" "15" "45660438" "45660438" "subst" "0.00000812638" "01815" "GATM_009003" "g.45660438G>A" "" "{PMID:Verma 2010:20625172}" "" "R169X" "" "Germline" "" "" "0" "" "" "g.45368240G>A" "" "pathogenic (recessive)" "" "0000411040" "1" "99" "15" "45656146" "45656146" "dup" "0" "01815" "GATM_009004" "g.45656146dup" "" "{PMID:Edvardson 2010:20682460}" "" "c.1111_1112insA" "" "Germline" "" "" "0" "" "" "g.45363948dup" "" "pathogenic (recessive)" "" "0000411041" "2" "99" "15" "45656146" "45656146" "dup" "0" "01815" "GATM_009004" "g.45656146dup" "" "{PMID:Edvardson 2010:20682460}" "" "c.1111_1112insA" "" "Germline" "" "" "0" "" "" "g.45363948dup" "" "pathogenic (recessive)" "" "0000411042" "1" "99" "15" "45656146" "45656146" "dup" "0" "01815" "GATM_009004" "g.45656146dup" "" "{PMID:Edvardson 2010:20682460}" "" "c.1111_1112insA" "" "Germline" "" "" "0" "" "" "g.45363948dup" "" "pathogenic (recessive)" "" "0000411043" "2" "99" "15" "45656146" "45656146" "dup" "0" "01815" "GATM_009004" "g.45656146dup" "" "{PMID:Edvardson 2010:20682460}" "" "c.1111_1112insA" "" "Germline" "" "" "0" "" "" "g.45363948dup" "" "pathogenic (recessive)" "" "0000411050" "1" "99" "15" "45660335" "45660335" "subst" "0" "01815" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}" "" "" "" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000411051" "2" "99" "15" "45660335" "45660335" "subst" "0" "01815" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}" "" "" "" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000411052" "1" "99" "15" "45660335" "45660335" "subst" "0" "01815" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}" "" "" "" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000411053" "2" "99" "15" "45660335" "45660335" "subst" "0" "01815" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}" "" "" "" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000411054" "1" "99" "15" "45660335" "45660335" "subst" "0" "01815" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}" "" "" "" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000411055" "2" "99" "15" "45660335" "45660335" "subst" "0" "01815" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}" "" "" "" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000411056" "1" "99" "15" "45660335" "45660335" "subst" "0" "01815" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}" "" "" "" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000411057" "2" "99" "15" "45660335" "45660335" "subst" "0" "01815" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}" "" "" "" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000411058" "1" "99" "15" "45660335" "45660335" "subst" "0" "01815" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}" "" "" "" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000411059" "1" "99" "15" "45660335" "45660335" "subst" "0" "01815" "GATM_009009" "g.45660335T>G" "" "{PMID:Nouioua 2013:23770102}" "" "" "" "Germline" "" "" "0" "" "" "g.45368137T>G" "" "pathogenic (recessive)" "" "0000411060" "1" "99" "15" "45660438" "45660438" "subst" "0.00000812638" "01815" "GATM_009003" "g.45660438G>A" "" "{PMID:Verma 2010:20625172}" "" "R169X" "" "Germline" "" "" "0" "" "" "g.45368240G>A" "" "pathogenic (recessive)" "" "0000411061" "2" "99" "15" "45660438" "45660438" "subst" "0.00000812638" "01815" "GATM_009003" "g.45660438G>A" "" "{PMID:Verma 2010:20625172}" "" "R169X" "" "Germline" "" "" "0" "" "" "g.45368240G>A" "" "pathogenic (recessive)" "" "0000411062" "1" "99" "15" "45660438" "45660438" "subst" "0.00000812638" "01815" "GATM_009003" "g.45660438G>A" "" "{PMID:Verma 2010:20625172}" "" "R169X" "" "Germline" "" "" "0" "" "" "g.45368240G>A" "" "pathogenic (recessive)" "" "0000411063" "2" "99" "15" "45660438" "45660438" "subst" "0.00000812638" "01815" "GATM_009003" "g.45660438G>A" "" "{PMID:Verma 2010:20625172}" "" "R169X" "" "Germline" "" "" "0" "" "" "g.45368240G>A" "" "pathogenic (recessive)" "" "0000411068" "1" "99" "15" "45660314" "45660314" "subst" "0" "01815" "GATM_009029" "g.45660314C>T" "" "{PMID:Stockler 2015:26490222}" "" "" "" "Germline" "" "" "0" "" "" "g.45368116C>T" "" "pathogenic (recessive)" "" "0000411069" "2" "99" "15" "45660314" "45660314" "subst" "0" "01815" "GATM_009029" "g.45660314C>T" "" "{PMID:Stockler 2015:26490222}" "" "" "" "Germline" "" "" "0" "" "" "g.45368116C>T" "" "pathogenic (recessive)" "" "0000411070" "1" "99" "15" "45660314" "45660314" "subst" "0" "01815" "GATM_009029" "g.45660314C>T" "" "{PMID:Stockler 2015:26490222}" "" "" "" "Germline" "" "" "0" "" "" "g.45368116C>T" "" "pathogenic (recessive)" "" "0000411071" "2" "99" "15" "45660314" "45660314" "subst" "0" "01815" "GATM_009029" "g.45660314C>T" "" "{PMID:Stockler 2015:26490222}" "" "" "" "Germline" "" "" "0" "" "" "g.45368116C>T" "" "pathogenic (recessive)" "" "0000411072" "1" "99" "15" "45660314" "45660314" "subst" "0" "01815" "GATM_009029" "g.45660314C>T" "" "{PMID:Stockler 2015:26490222}" "" "" "" "Germline" "" "" "0" "" "" "g.45368116C>T" "" "pathogenic (recessive)" "" "0000411073" "2" "99" "15" "45660314" "45660314" "subst" "0" "01815" "GATM_009029" "g.45660314C>T" "" "{PMID:Stockler 2015:26490222}" "" "" "" "Germline" "" "" "0" "" "" "g.45368116C>T" "" "pathogenic (recessive)" "" "0000411074" "2" "97" "15" "45657000" "45657000" "subst" "0.00000406223" "02596" "GATM_009044" "g.45657000G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 4,0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45364802G>A" "" "NA" "" "0000411075" "1" "97" "15" "45654342" "45654342" "subst" "0" "02596" "GATM_009010" "g.45654342G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45362144G>A" "" "NA" "" "0000411076" "1" "97" "15" "45654341" "45654341" "subst" "0" "02596" "GATM_000002" "g.45654341C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 1,57% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45362143C>T" "" "NA" "" "0000411077" "1" "13" "15" "45654335" "45654335" "subst" "0.000171212" "02596" "GATM_000001" "g.45654335C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 39,0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45362137C>T" "" "NA" "" "0000411078" "2" "13" "15" "45668810" "45668810" "subst" "0.0000121819" "02596" "GATM_009035" "g.45668810T>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 18,0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45376612T>C" "" "NA" "" "0000411079" "2" "13" "15" "45661702" "45661702" "subst" "0.00000406815" "02596" "GATM_009036" "g.45661702C>G" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 37,0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45369504C>G" "" "NA" "" "0000411080" "1" "97" "15" "45661694" "45661694" "subst" "0" "02596" "GATM_009045" "g.45661694G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 0,60% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45369496G>A" "" "NA" "" "0000411081" "2" "13" "15" "45661601" "45661601" "subst" "0.000373704" "02596" "GATM_009037" "g.45661601G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 100% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45369403G>A" "" "NA" "" "0000411082" "2" "97" "15" "45660402" "45660402" "subst" "0.000004062" "02596" "GATM_009046" "g.45660402C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45368204C>T" "" "NA" "" "0000411083" "2" "97" "15" "45660390" "45660390" "subst" "0" "02596" "GATM_009033" "g.45660390C>G" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 2,2% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45368192C>G" "" "NA" "" "0000411084" "1" "97" "15" "45660378" "45660378" "subst" "0.00000812381" "02596" "GATM_009047" "g.45660378G>A" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45368180G>A" "" "NA" "" "0000411085" "1" "97" "15" "45660335" "45660335" "subst" "0" "02596" "GATM_009009" "g.45660335T>G" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45368137T>G" "" "NA" "" "0000411086" "2" "97" "15" "45660321" "45660321" "subst" "0.00000812473" "02596" "GATM_009048" "g.45660321C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45368123C>T" "" "NA" "" "0000411087" "2" "13" "15" "45660288" "45660288" "subst" "0.00000406243" "02596" "GATM_009038" "g.45660288C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 63% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45368090C>T" "" "NA" "" "0000411088" "1" "13" "15" "45670584" "45670584" "subst" "0" "02596" "GATM_009034" "g.45670584C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 28,0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45378386C>T" "" "NA" "" "0000411089" "1" "13" "15" "45658690" "45658690" "subst" "0.000105664" "02596" "GATM_009039" "g.45658690G>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 100% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45366492G>C" "" "NA" "" "0000411090" "2" "13" "15" "45658681" "45658681" "subst" "0.000207221" "02596" "GATM_009040" "g.45658681T>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 82% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45366483T>C" "" "NA" "" "0000411091" "1" "97" "15" "45658377" "45658377" "subst" "0.0000121931" "02596" "GATM_009042" "g.45658377C>T" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 7,60% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45366179C>T" "" "NA" "" "0000411092" "1" "97" "15" "45657052" "45657052" "subst" "0.00000812546" "02596" "GATM_009043" "g.45657052G>C" "" "{PMID:DesRoches 2016:27233232}" "" "" "overexpression studies showed 5,0% AGAT activity" "In vitro (cloned)" "" "" "0" "" "" "g.45364854G>C" "" "NA" "" "0000554507" "0" "10" "15" "45654327" "45654327" "subst" "0.533858" "02330" "GATM_009049" "g.45654327A>G" "" "" "" "GATM(NM_001482.3):c.1252T>C (p.L418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45362129A>G" "" "benign" "" "0000554508" "0" "10" "15" "45654327" "45654327" "subst" "0.533858" "02325" "GATM_009049" "g.45654327A>G" "" "" "" "GATM(NM_001482.3):c.1252T>C (p.L418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45362129A>G" "" "benign" "" "0000554509" "0" "30" "15" "45657076" "45657076" "dup" "0" "01943" "GATM_009050" "g.45657076dup" "" "" "" "GATM(NM_001321015.1):c.592-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45364878dup" "" "likely benign" "" "0000615352" "0" "30" "15" "45660274" "45660274" "subst" "0.000402295" "01943" "GATM_009052" "g.45660274A>G" "" "" "" "GATM(NM_001321015.1):c.282T>C (p.Y94=), GATM(NM_001482.3):c.669T>C (p.Y223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45368076A>G" "" "likely benign" "" "0000623239" "0" "30" "15" "45661600" "45661600" "subst" "0.0000324939" "01943" "GATM_009053" "g.45661600C>T" "" "" "" "GATM(NM_001321015.1):c.21G>A (p.T7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45369402C>T" "" "likely benign" "" "0000680184" "0" "50" "15" "45658660" "45658660" "subst" "0" "01943" "GATM_009054" "g.45658660T>C" "" "" "" "GATM(NM_001321015.1):c.335A>G (p.Q112R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854048" "0" "10" "15" "45654327" "45654327" "subst" "0.533858" "02327" "GATM_009049" "g.45654327A>G" "" "" "" "GATM(NM_001482.3):c.1252T>C (p.L418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854049" "0" "30" "15" "45656996" "45656996" "subst" "0.000231547" "02326" "GATM_009055" "g.45656996G>A" "" "" "" "GATM(NM_001482.3):c.1041C>T (p.D347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854050" "0" "30" "15" "45660274" "45660274" "subst" "0.000402295" "02326" "GATM_009052" "g.45660274A>G" "" "" "" "GATM(NM_001321015.1):c.282T>C (p.Y94=), GATM(NM_001482.3):c.669T>C (p.Y223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854051" "0" "10" "15" "45661678" "45661678" "subst" "0.419284" "02327" "GATM_000003" "g.45661678T>A" "" "" "" "GATM(NM_001482.3):c.330A>T (p.Q110H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863866" "0" "50" "15" "45658681" "45658681" "subst" "0.000207221" "01943" "GATM_009040" "g.45658681T>C" "" "" "" "GATM(NM_001321015.1):c.314A>G (p.D105G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892098" "0" "30" "15" "45658581" "45658581" "subst" "0.0000121888" "02326" "GATM_009056" "g.45658581T>G" "" "" "" "GATM(NM_001482.3):c.801A>C (p.A267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892099" "0" "90" "15" "45695154" "45695154" "subst" "0.000780718" "02329" "GATM_009057" "g.45695154G>T" "" "" "" "SPATA5L1(NM_024063.3):c.527G>T (p.G176V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914298" "0" "30" "15" "45661601" "45661601" "subst" "0.000373704" "02326" "GATM_009037" "g.45661601G>A" "" "" "" "GATM(NM_001482.3):c.407C>T (p.T136M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GATM ## Count = 118 "{{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}}" "0000277024" "00008376" "10" "330" "0" "330" "0" "c.330A>T" "r.(?)" "p.(Gln110His)" "" "0000277025" "00008376" "30" "69" "13" "69" "13" "c.69+13C>T" "r.(=)" "p.(=)" "" "0000280999" "00008376" "10" "330" "0" "330" "0" "c.330A>T" "r.(?)" "p.(Gln110His)" "" "0000281000" "00008376" "30" "69" "13" "69" "13" "c.69+13C>T" "r.(=)" "p.(=)" "" "0000283349" "00008376" "50" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413Gln)" "" "0000288234" "00008376" "50" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415Gln)" "" "0000410985" "00008376" "99" "484" "1" "484" "1" "c.484+1G>T" "r.289_484del" "p.Ala97Valfs*11" "3i" "0000410986" "00008376" "99" "484" "1" "484" "1" "c.484+1G>T" "r.289_484del" "p.Ala97Valfs*11" "3i" "0000410987" "00008376" "99" "484" "1" "484" "1" "c.484+1G>T" "r.289_484del" "p.Ala97Valfs*11" "3i" "0000410988" "00008376" "99" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Arg413Trp)" "9" "0000410989" "00008376" "99" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413Gln)" "9" "0000410990" "00008376" "97" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Pro105Leu)" "3" "0000410991" "00008376" "97" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Pro105Leu)" "3" "0000410992" "00008376" "97" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Arg413Trp)" "9" "0000410993" "00008376" "97" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Arg413Trp)" "9" "0000410994" "00008376" "97" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000410995" "00008376" "97" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000410996" "00008376" "97" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Glu181Lys)" "4" "0000410997" "00008376" "97" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Glu181Lys)" "4" "0000410998" "00008376" "97" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "4" "0000410999" "00008376" "97" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "4" "0000411000" "00008376" "97" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "4" "0000411001" "00008376" "97" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "4" "0000411002" "00008376" "97" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413Gln)" "9" "0000411003" "00008376" "97" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413Gln)" "9" "0000411004" "00008376" "13" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Thr136Met)" "3" "0000411005" "00008376" "13" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Thr136Met)" "3" "0000411006" "00008376" "13" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Ser231Cys)" "5" "0000411007" "00008376" "13" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Ser231Cys)" "5" "0000411008" "00008376" "13" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Ile93Val)" "2" "0000411009" "00008376" "13" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Ile93Val)" "2" "0000411010" "00008376" "97" "553" "0" "553" "0" "c.553G>C" "r.(?)" "p.(Ala185Pro)" "4" "0000411011" "00008376" "97" "553" "0" "553" "0" "c.553G>C" "r.(?)" "p.(Ala185Pro)" "4" "0000411012" "00008376" "13" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23Gln)" "1" "0000411013" "00008376" "13" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23Gln)" "1" "0000411014" "00008376" "13" "306" "0" "306" "0" "c.306G>C" "r.(?)" "p.(Lys102Asn)" "3" "0000411015" "00008376" "13" "306" "0" "306" "0" "c.306G>C" "r.(?)" "p.(Lys102Asn)" "3" "0000411016" "00008376" "13" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415Gln)" "9" "0000411017" "00008376" "13" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415Gln)" "9" "0000411018" "00008376" "97" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "7" "0000411019" "00008376" "97" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "7" "0000411020" "00008376" "97" "985" "0" "985" "0" "c.985C>G" "r.(?)" "p.(Leu329Val)" "7" "0000411021" "00008376" "97" "985" "0" "985" "0" "c.985C>G" "r.(?)" "p.(Leu329Val)" "7" "0000411022" "00008376" "13" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Ala219Thr)" "4" "0000411023" "00008376" "13" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Ala219Thr)" "4" "0000411024" "00008376" "97" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "6" "0000411025" "00008376" "97" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "6" "0000411026" "00008376" "13" "701" "0" "701" "0" "c.701A>G" "r.(?)" "p.(Asp234Gly)" "5" "0000411027" "00008376" "13" "701" "0" "701" "0" "c.701A>G" "r.(?)" "p.(Asp234Gly)" "5" "0000411028" "00008376" "99" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Trp149*)" "3" "0000411029" "00008376" "99" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Trp149*)" "3" "0000411030" "00008376" "99" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Trp149*)" "3" "0000411031" "00008376" "99" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Trp149*)" "3" "0000411032" "00008376" "99" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Trp149*)" "3" "0000411033" "00008376" "99" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Trp149*)" "3" "0000411034" "00008376" "99" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Trp149*)" "3" "0000411035" "00008376" "99" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Trp149*)" "3" "0000411036" "00008376" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169*)" "4" "0000411037" "00008376" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169*)" "4" "0000411038" "00008376" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169*)" "4" "0000411039" "00008376" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169*)" "4" "0000411040" "00008376" "99" "1111" "0" "1111" "0" "c.1111dup" "r.(?)" "p.(Met371Asnfs*6)" "8" "0000411041" "00008376" "99" "1111" "0" "1111" "0" "c.1111dup" "r.(?)" "p.(Met371Asnfs*6)" "8" "0000411042" "00008376" "99" "1111" "0" "1111" "0" "c.1111dup" "r.(?)" "p.(Met371Asnfs*6)" "8" "0000411043" "00008376" "99" "1111" "0" "1111" "0" "c.1111dup" "r.(?)" "p.(Met371Asnfs*6)" "8" "0000411050" "00008376" "99" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000411051" "00008376" "99" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000411052" "00008376" "99" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000411053" "00008376" "99" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000411054" "00008376" "99" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000411055" "00008376" "99" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000411056" "00008376" "99" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000411057" "00008376" "99" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000411058" "00008376" "99" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000411059" "00008376" "99" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Tyr203Ser)" "4" "0000411060" "00008376" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169*)" "4" "0000411061" "00008376" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169*)" "4" "0000411062" "00008376" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169*)" "4" "0000411063" "00008376" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169*)" "4" "0000411068" "00008376" "99" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Trp210*)" "4" "0000411069" "00008376" "99" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Trp210*)" "4" "0000411070" "00008376" "99" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Trp210*)" "4" "0000411071" "00008376" "99" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Trp210*)" "4" "0000411072" "00008376" "99" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Trp210*)" "4" "0000411073" "00008376" "99" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Trp210*)" "4" "0000411074" "00008376" "97" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.Pro346Leu" "7" "0000411075" "00008376" "97" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.Arg413Trp" "9" "0000411076" "00008376" "97" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.Arg413Gln" "9" "0000411077" "00008376" "13" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.Arg415Gln" "9" "0000411078" "00008376" "13" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.Ile93Val" "2" "0000411079" "00008376" "13" "306" "0" "306" "0" "c.306G>C" "r.(?)" "p.Lys102Asn" "3" "0000411080" "00008376" "97" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.Pro105Leu" "3" "0000411081" "00008376" "13" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.Thr136Met" "3" "0000411082" "00008376" "97" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.Glu181Lys" "4" "0000411083" "00008376" "97" "553" "0" "553" "0" "c.553G>C" "r.(?)" "p.Ala185Pro" "4" "0000411084" "00008376" "97" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.Arg189Cys" "4" "0000411085" "00008376" "97" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.Tyr203Ser" "4" "0000411086" "00008376" "97" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.Ala208Thr" "4" "0000411087" "00008376" "13" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.Ala219Thr" "4" "0000411088" "00008376" "13" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.Arg23Gln" "1" "0000411089" "00008376" "13" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.Ser231Cys" "5" "0000411090" "00008376" "13" "701" "0" "701" "0" "c.701A>G" "r.(?)" "p.Asp234Gly" "5" "0000411091" "00008376" "97" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.Arg282His" "6" "0000411092" "00008376" "97" "985" "0" "985" "0" "c.985C>G" "r.(?)" "p.Leu329Val" "7" "0000554507" "00008376" "10" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Leu418=)" "" "0000554508" "00008376" "10" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Leu418=)" "" "0000554509" "00008376" "30" "979" "-11" "979" "-11" "c.979-11dup" "r.(=)" "p.(=)" "" "0000615352" "00008376" "30" "669" "0" "669" "0" "c.669T>C" "r.(?)" "p.(Tyr223=)" "" "0000623239" "00008376" "30" "408" "0" "408" "0" "c.408G>A" "r.(?)" "p.(Thr136=)" "" "0000680184" "00008376" "50" "722" "0" "722" "0" "c.722A>G" "r.(?)" "p.(Gln241Arg)" "" "0000854048" "00008376" "10" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Leu418=)" "" "0000854049" "00008376" "30" "1041" "0" "1041" "0" "c.1041C>T" "r.(?)" "p.(Asp347=)" "" "0000854050" "00008376" "30" "669" "0" "669" "0" "c.669T>C" "r.(?)" "p.(Tyr223=)" "" "0000854051" "00008376" "10" "330" "0" "330" "0" "c.330A>T" "r.(?)" "p.(Gln110His)" "" "0000863866" "00008376" "50" "701" "0" "701" "0" "c.701A>G" "r.(?)" "p.(Asp234Gly)" "" "0000892098" "00008376" "30" "801" "0" "801" "0" "c.801A>C" "r.(?)" "p.(Ala267=)" "" "0000892099" "00008376" "90" "-24503" "0" "-24503" "0" "c.-24503C>A" "r.(?)" "p.(=)" "" "0000914298" "00008376" "30" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Thr136Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 79 "{{screeningid}}" "{{variantid}}" "0000185533" "0000411028" "0000185533" "0000411029" "0000185534" "0000411030" "0000185534" "0000411031" "0000185535" "0000411032" "0000185535" "0000411033" "0000185536" "0000411034" "0000185536" "0000411035" "0000185537" "0000410985" "0000185538" "0000411036" "0000185538" "0000411037" "0000185539" "0000411038" "0000185539" "0000411039" "0000185540" "0000411040" "0000185540" "0000411041" "0000185541" "0000411042" "0000185541" "0000411043" "0000185546" "0000411050" "0000185546" "0000411051" "0000185547" "0000411052" "0000185547" "0000411053" "0000185548" "0000410986" "0000185549" "0000410987" "0000185550" "0000411054" "0000185550" "0000411055" "0000185551" "0000411056" "0000185551" "0000411057" "0000185552" "0000411058" "0000185553" "0000411059" "0000185554" "0000411060" "0000185554" "0000411061" "0000185555" "0000411062" "0000185555" "0000411063" "0000185556" "0000410988" "0000185556" "0000410989" "0000185559" "0000410992" "0000185559" "0000410993" "0000185560" "0000411002" "0000185560" "0000411003" "0000185561" "0000411010" "0000185561" "0000411011" "0000185562" "0000410994" "0000185562" "0000410995" "0000185563" "0000411012" "0000185563" "0000411013" "0000185564" "0000411008" "0000185564" "0000411009" "0000185565" "0000411014" "0000185565" "0000411015" "0000185566" "0000411004" "0000185566" "0000411005" "0000185567" "0000411022" "0000185567" "0000411023" "0000185568" "0000411006" "0000185568" "0000411007" "0000185569" "0000411026" "0000185569" "0000411027" "0000185570" "0000411016" "0000185570" "0000411017" "0000185571" "0000411024" "0000185571" "0000411025" "0000185572" "0000411020" "0000185572" "0000411021" "0000185573" "0000411018" "0000185573" "0000411019" "0000185574" "0000410990" "0000185574" "0000410991" "0000185575" "0000410996" "0000185575" "0000410997" "0000185576" "0000410998" "0000185576" "0000410999" "0000185577" "0000411000" "0000185577" "0000411001" "0000185578" "0000411068" "0000185578" "0000411069" "0000185579" "0000411070" "0000185579" "0000411071" "0000185580" "0000411072" "0000185580" "0000411073"