### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC35C1) # 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}}" "SLC35C1" "solute carrier family 35, member C1" "11" "p11.2" "unknown" "NG_009875.1" "UD_132118393429" "" "https://www.LOVD.nl/SLC35C1" "" "1" "20197" "55343" "605881" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/SLC35C1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2022-08-15 16:11:07" "00006" "2025-01-23 20:41:23" ## 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}}" "00000160" "SLC35C1" "solute carrier family 35, member C1, transcript variant 1" "003" "NM_018389.4" "" "NP_060859.4" "" "" "" "-712" "2776" "1095" "45826641" "45834567" "00002" "2012-05-11 13:12:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "02046" "CDG2C;LAD2" "glycosylation, congenital disorder of, type IIc" "AR" "266265" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-08-15 16:10:25" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06856" "GAMOS2" "Galloway-Mowat syndrome 2, X-linked" "XLR" "301006" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC35C1" "00139" "SLC35C1" "02046" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00290397" "" "" "" "134" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304305" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00377252" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "362" "00415711" "" "" "" "1" "" "00006" "{PMID:Lübke 2001:11326280}, {DOI:Lübke 2001:10.1038/ng0501-73}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Lühn 2001:11326279}, {DOI:Lühn 2001:10.1038/ng0501-69}" "" "M" "" "Turkey" "" "0" "" "" "" "PatAC" "00415712" "" "" "" "1" "" "00006" "{PMID:Lübke 2001:11326280}, {DOI:Lübke 2001:10.1038/ng0501-73}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "Arab" "PatM" "00415713" "" "" "" "1" "" "00006" "{PMID:Lübke 2001:11326280}, {DOI:Lübke 2001:10.1038/ng0501-73}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Etzoni 2002:12116250}, {DOI:Etzoni 2002:10.1002/ajmg.10423}" "" "M" "" "Israel" "" "0" "" "" "Arab;Muslim" "" "00415714" "" "" "" "1" "" "00006" "{PMID:Lübke 2001:11326280}, {DOI:Lübke 2001:10.1038/ng0501-73}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Etzoni 2002:12116250}, {DOI:Etzoni 2002:10.1002/ajmg.10423}" "" "F" "" "Israel" "" "0" "" "" "Arab;Muslim" "" "00415715" "" "" "" "1" "" "00006" "{PMID:Lübke 2001:11326280}, {DOI:Lübke 2001:10.1038/ng0501-73}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Etzoni 2002:12116250}, {DOI:Etzoni 2002:10.1002/ajmg.10423}" "" "F" "" "Israel" "" "0" "" "" "Arab;Muslim" "" "00415716" "" "" "" "1" "" "00006" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Israel" "" "0" "" "" "Arab" "" "00415717" "" "" "" "1" "" "00006" "{PMID:Hidalgo 2003:12406889}, {DOI:Hidalgo 2003:10.1182/blood-2002-09-2840}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Brazil" "" "0" "" "" "" "" "00415718" "" "" "" "1" "" "00006" "{PMID:Helmus 2006:16455955}, {DOI:Helmus 2006:10.1182/blood-2005-08-3334}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Pakistan" "" "0" "" "" "" "" "00415719" "" "" "" "1" "" "00006" "{PMID:Gazit 2010:20099014}, {DOI:Gazit 2010:10.1007/s10875-009-9354-0}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Israel" "" "0" "" "" "Arab" "" "00415720" "" "" "" "1" "" "00006" "{PMID:Cagdas 2014:25239688}, {DOI:Cagdas 2014:10.1007/s10875-014-0091-7}" "family, 2 affected sibs (F, M)" "F;M" "" "Turkey" "" "0" "" "" "" "" "00415721" "" "" "" "1" "" "00006" "{PMID:Cooper 2020:32992000}, {DOI:Cooper 2020:10.1016/j.clim.2020.108599}" "" "M" "" "" "" "0" "" "" "white" "" "00415722" "" "" "" "1" "" "00006" "{PMID:Jones 2013:23806237}, {DOI:Jones 2013:10.1016/j.ymgme.2013.05.012}, {PMID:Dauber 2014:24403049}, {DOI:Dauber 2014:10.1093/hmg/ddu001}" "family, 2 affected sibs (2M)" "M" "" "" "" "0" "" "" "white" "" "00415723" "" "" "" "1" "" "00006" "{PMID:Grabowski 2019:30630937}, {DOI:Grabowski 2019:10.1074/mcp.RA118.001141}" "" "M" "" "" "" "0" "" "" "" "LAD3" "00415724" "" "" "" "1" "" "00006" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "M" "" "Iran" "" "0" "" "" "" "PatI" "00415725" "" "" "" "1" "" "00006" "{PMID:Knapp 2020:32313197}, {DOI:Knapp 2020:10.1038/s10038-020-0764-4}" "" "F" "" "" "" "0" "" "" "white" "" "00415726" "" "" "" "1" "" "00006" "{PMID:Tahata 2022:35338746}, {DOI:Tahata 2022:10.1002/ajmg.a.62737}, {PMID:Starosta 2021:33413482}, {DOI:Starosta 2021:10.1186/s13023-020-01630-2}, {PMID:Klee 2021:33144682}, {DOI:Klee 2021:10.1038/s41436-020-01005-9}" "family, 2 affected sibs (2F)" "F" "" "" "" "0" "" "" "" "" "00415727" "" "" "" "1" "" "00006" "{PMID:Tahata 2022:35338746}, {DOI:Tahata 2022:10.1002/ajmg.a.62737}" "" "M" "" "" "" "0" "" "" "white" "" "00415728" "" "" "" "1" "" "00006" "{PMID:Dyment 2021:33098347}, {DOI:Dyment 2021:10.1002/ajmg.a.61926}" "" "M" "" "Iran" "" "0" "" "" "" "" "00415730" "" "" "" "1" "" "00006" "{PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "" "" "0" "" "" "" "" "00438570" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0016" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00290397" "00198" "00304305" "00198" "00377252" "04214" "00415711" "06856" "00415712" "06856" "00415713" "06856" "00415714" "06856" "00415715" "06856" "00415716" "06856" "00415717" "06856" "00415718" "06856" "00415719" "06856" "00415720" "06856" "00415721" "06856" "00415722" "06856" "00415723" "06856" "00415724" "06856" "00415725" "06856" "00415726" "06856" "00415727" "06856" "00415728" "06856" "00415730" "00000" "00438570" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 02046, 04214, 06856, 06906 ## Count = 20 "{{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}}" "0000272410" "04214" "00377252" "00000" "Familial, autosomal dominant" "30y" "see paper; ..." "13y" "17y" "" "" "" "" "" "" "" "retinal disease" "" "0000307491" "06856" "00415711" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307492" "06856" "00415712" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307493" "06856" "00415713" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307494" "06856" "00415714" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307495" "06856" "00415715" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307496" "06856" "00415716" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307497" "06856" "00415717" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307498" "06856" "00415718" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307499" "06856" "00415719" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307500" "06856" "00415720" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307501" "06856" "00415721" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II0" "" "" "0000307502" "06856" "00415722" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II" "" "" "0000307503" "06856" "00415723" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II?" "" "" "0000307504" "06856" "00415724" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II" "" "" "0000307505" "06856" "00415725" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II" "" "" "0000307506" "06856" "00415726" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II" "" "" "0000307507" "06856" "00415727" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II" "" "" "0000307508" "06856" "00415728" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "LAD-II" "" "" "0000328473" "06906" "00438570" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000291565" "00290397" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305434" "00304305" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000378457" "00377252" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000416992" "00415711" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416993" "00415712" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416994" "00415713" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416995" "00415714" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416996" "00415715" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416997" "00415716" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416998" "00415717" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000416999" "00415718" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417000" "00415719" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417001" "00415720" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417002" "00415721" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417003" "00415722" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417004" "00415723" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417005" "00415724" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417006" "00415725" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417007" "00415726" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417008" "00415727" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417009" "00415728" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000417011" "00415730" "1" "00006" "00006" "2022-08-15 17:50:58" "" "" "SEQ" "DNA" "" "" "0000440052" "00438570" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 51 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000378457" "RHO" "0000416992" "SLC35C1" "0000416993" "SLC35C1" "0000416994" "SLC35C1" "0000416995" "SLC35C1" "0000416996" "SLC35C1" "0000416997" "SLC35C1" "0000416998" "SLC35C1" "0000416999" "SLC35C1" "0000417000" "SLC35C1" "0000417001" "SLC35C1" "0000417002" "SLC35C1" "0000417003" "SLC35C1" "0000417004" "SLC35C1" "0000417005" "SLC35C1" "0000417006" "SLC35C1" "0000417007" "SLC35C1" "0000417008" "SLC35C1" "0000417009" "SLC35C1" "0000417011" "SLC35C1" ## 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 = 56 "{{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}}" "0000000232" "3" "50" "11" "45832935" "45832935" "subst" "0.626881" "00002" "SLC35C1_000001" "g.45832935G>A" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs1139266" "0" "" "" "g.45811384G>A" "" "VUS" "" "0000298300" "0" "70" "11" "45832342" "45832342" "subst" "0" "02325" "SLC35C1_000007" "g.45832342G>A" "" "" "" "SLC35C1(NM_018389.5):c.551G>A (p.G184D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45810791G>A" "" "likely pathogenic" "" "0000302235" "0" "30" "11" "45827874" "45827874" "subst" "0.00277596" "02326" "SLC35C1_000006" "g.45827874C>T" "" "" "" "SLC35C1(NM_018389.4):c.522C>T (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45806323C>T" "" "likely benign" "" "0000308431" "0" "50" "11" "45832846" "45832846" "subst" "8.86146E-5" "01943" "SLC35C1_000008" "g.45832846C>A" "" "" "" "SLC35C1(NM_018389.4):c.1055C>A (p.P352H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45811295C>A" "" "VUS" "" "0000308432" "0" "50" "11" "45827491" "45827491" "subst" "2.03041E-5" "01943" "SLC35C1_000003" "g.45827491C>T" "" "" "" "SLC35C1(NM_018389.4):c.139C>T (p.L47F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45805940C>T" "" "VUS" "" "0000322204" "0" "90" "11" "45827791" "45827791" "subst" "0" "01804" "SLC35C1_000004" "g.45827791C>T" "" "" "" "SLC35C1(NM_001145265.1):c.400C>T (p.(Arg134Cys)), SLC35C1(NM_018389.4):c.439C>T (p.R147C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45806240C>T" "" "pathogenic" "" "0000322205" "0" "90" "11" "45827855" "45827857" "del" "0" "01804" "SLC35C1_000005" "g.45827855_45827857del" "" "" "" "SLC35C1(NM_001145265.1):c.464_466del (p.(Phe155del)), SLC35C1(NM_018389.4):c.503_505delTCT (p.F168del), SLC35C1(NM_018389.5):c.503_505delTCT (p.F1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45806304_45806306del" "" "pathogenic" "" "0000543932" "0" "30" "11" "45827379" "45827379" "subst" "0" "02326" "SLC35C1_000009" "g.45827379C>T" "" "" "" "SLC35C1(NM_018389.4):c.27C>T (p.S9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45805828C>T" "" "likely benign" "" "0000543933" "0" "30" "11" "45827434" "45827434" "subst" "4.06164E-6" "01943" "SLC35C1_000010" "g.45827434G>A" "" "" "" "SLC35C1(NM_018389.4):c.82G>A (p.A28T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45805883G>A" "" "likely benign" "" "0000543934" "0" "30" "11" "45827606" "45827606" "subst" "0.000114118" "01943" "SLC35C1_000011" "g.45827606C>T" "" "" "" "SLC35C1(NM_018389.4):c.254C>T (p.T85M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45806055C>T" "" "likely benign" "" "0000543935" "0" "50" "11" "45827855" "45827857" "del" "0" "01943" "SLC35C1_000005" "g.45827855_45827857del" "" "" "" "SLC35C1(NM_001145265.1):c.464_466del (p.(Phe155del)), SLC35C1(NM_018389.4):c.503_505delTCT (p.F168del), SLC35C1(NM_018389.5):c.503_505delTCT (p.F1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45806304_45806306del" "" "VUS" "" "0000543936" "0" "90" "11" "45827855" "45827857" "del" "0" "02325" "SLC35C1_000005" "g.45827855_45827857del" "" "" "" "SLC35C1(NM_001145265.1):c.464_466del (p.(Phe155del)), SLC35C1(NM_018389.4):c.503_505delTCT (p.F168del), SLC35C1(NM_018389.5):c.503_505delTCT (p.F1...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45806304_45806306del" "" "pathogenic" "" "0000543937" "0" "30" "11" "45827874" "45827874" "subst" "0.00277596" "01943" "SLC35C1_000006" "g.45827874C>T" "" "" "" "SLC35C1(NM_018389.4):c.522C>T (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45806323C>T" "" "likely benign" "" "0000543938" "0" "50" "11" "45832539" "45832539" "subst" "0.000207958" "01943" "SLC35C1_000012" "g.45832539G>A" "" "" "" "SLC35C1(NM_018389.4):c.748G>A (p.G250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45810988G>A" "" "VUS" "" "0000543940" "0" "30" "11" "45832845" "45832845" "subst" "0.00383398" "01943" "SLC35C1_000014" "g.45832845C>T" "" "" "" "SLC35C1(NM_018389.4):c.1054C>T (p.P352S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45811294C>T" "" "likely benign" "" "0000613338" "0" "30" "11" "45832538" "45832538" "subst" "0.000318001" "01943" "SLC35C1_000015" "g.45832538C>T" "" "" "" "SLC35C1(NM_018389.4):c.747C>T (p.L249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45810987C>T" "" "likely benign" "" "0000613339" "0" "50" "11" "45832693" "45832693" "subst" "0" "01943" "SLC35C1_000016" "g.45832693C>T" "" "" "" "SLC35C1(NM_018389.4):c.902C>T (p.T301M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45811142C>T" "" "VUS" "" "0000648254" "1" "30" "11" "45834466" "45834466" "subst" "0" "03575" "SLC35C1_000017" "g.45834466C>T" "134/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "134 heterozygous; {DB:CLININrs10838518}" "Germline" "" "rs10838518" "0" "" "" "g.45812915C>T" "" "likely benign" "" "0000669122" "3" "30" "11" "45834466" "45834466" "subst" "0" "03575" "SLC35C1_000017" "g.45834466C>T" "6/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs10838518}" "Germline" "" "rs10838518" "0" "" "" "g.45812915C>T" "" "likely benign" "" "0000679188" "0" "30" "11" "45827697" "45827697" "subst" "0" "01943" "SLC35C1_000018" "g.45827697C>T" "" "" "" "SLC35C1(NM_018389.4):c.345C>T (p.R115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691066" "0" "30" "11" "45832389" "45832389" "subst" "0.000274651" "01943" "SLC35C1_000019" "g.45832389G>A" "" "" "" "SLC35C1(NM_018389.4):c.598G>A (p.V200I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723449" "0" "30" "11" "45832670" "45832670" "subst" "0.000163095" "01943" "SLC35C1_000020" "g.45832670G>A" "" "" "" "SLC35C1(NM_018389.4):c.879G>A (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805125" "0" "50" "11" "45827430" "45827435" "dup" "0" "01943" "SLC35C1_000021" "g.45827430_45827435dup" "" "" "" "SLC35C1(NM_018389.4):c.78_83dupAGAGGC (p.E27_A28dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805126" "0" "30" "11" "45832610" "45832610" "subst" "1.63074E-5" "01943" "SLC35C1_000022" "g.45832610C>T" "" "" "" "SLC35C1(NM_018389.4):c.819C>T (p.G273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805127" "0" "30" "11" "45832838" "45832838" "subst" "0.000905879" "02326" "SLC35C1_000023" "g.45832838G>A" "" "" "" "SLC35C1(NM_018389.4):c.1047G>A (p.P349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852905" "0" "50" "11" "45827791" "45827791" "subst" "0" "01943" "SLC35C1_000004" "g.45827791C>T" "" "" "" "SLC35C1(NM_001145265.1):c.400C>T (p.(Arg134Cys)), SLC35C1(NM_018389.4):c.439C>T (p.R147C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852906" "0" "30" "11" "45832845" "45832845" "subst" "0.00383398" "02326" "SLC35C1_000014" "g.45832845C>T" "" "" "" "SLC35C1(NM_018389.4):c.1054C>T (p.P352S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862533" "0" "30" "11" "45832707" "45832707" "subst" "0" "01943" "SLC35C1_000024" "g.45832707G>A" "" "" "" "SLC35C1(NM_018389.4):c.916G>A (p.A306T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000876481" "3" "90" "11" "45827791" "45827791" "subst" "0" "00006" "SLC35C1_000004" "g.45827791C>T" "" "{PMID:Lübke 2001:11326280}, {DOI:Lübke 2001:10.1038/ng0501-73}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Lühn 2001:11326279}, {DOI:Lühn 2001:10.1038/ng0501-69}" "" "" "" "Germline" "" "" "0" "" "" "g.45806240C>T" "" "pathogenic (recessive)" "" "0000876482" "3" "90" "11" "45832714" "45832714" "subst" "0" "00006" "SLC35C1_000036" "g.45832714C>G" "" "{PMID:Lübke 2001:11326280}, {DOI:Lübke 2001:10.1038/ng0501-73}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.45811163C>G" "" "pathogenic (recessive)" "" "0000876483" "3" "90" "11" "45832714" "45832714" "subst" "0" "00006" "SLC35C1_000036" "g.45832714C>G" "" "{PMID:Lübke 2001:11326280}, {DOI:Lübke 2001:10.1038/ng0501-73}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Etzoni 2002:12116250}, {DOI:Etzoni 2002:10.1002/ajmg.10423}" "" "" "" "Germline" "" "" "0" "" "" "g.45811163C>G" "" "pathogenic (recessive)" "" "0000876484" "3" "90" "11" "45832714" "45832714" "subst" "0" "00006" "SLC35C1_000036" "g.45832714C>G" "" "{PMID:Lübke 2001:11326280}, {DOI:Lübke 2001:10.1038/ng0501-73}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Etzoni 2002:12116250}, {DOI:Etzoni 2002:10.1002/ajmg.10423}" "" "" "" "Germline" "" "" "0" "" "" "g.45811163C>G" "" "pathogenic (recessive)" "" "0000876485" "3" "90" "11" "45832714" "45832714" "subst" "0" "00006" "SLC35C1_000036" "g.45832714C>G" "" "{PMID:Lübke 2001:11326280}, {DOI:Lübke 2001:10.1038/ng0501-73}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}, {PMID:Etzoni 2002:12116250}, {DOI:Etzoni 2002:10.1002/ajmg.10423}" "" "" "" "Germline" "" "" "0" "" "" "g.45811163C>G" "" "pathogenic (recessive)" "" "0000876486" "3" "90" "11" "45832714" "45832714" "subst" "0" "00006" "SLC35C1_000036" "g.45832714C>G" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.45811163C>G" "" "pathogenic (recessive)" "" "0000876487" "3" "90" "11" "45832379" "45832379" "del" "0" "00006" "SLC35C1_000029" "g.45832379del" "" "{PMID:Hidalgo 2003:12406889}, {DOI:Hidalgo 2003:10.1182/blood-2002-09-2840}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "c.588delG" "" "Germline" "" "" "0" "" "" "g.45810828del" "" "pathogenic (recessive)" "" "0000876488" "3" "90" "11" "45832760" "45832760" "subst" "0" "00006" "SLC35C1_000038" "g.45832760G>A" "" "{PMID:Helmus 2006:16455955}, {DOI:Helmus 2006:10.1182/blood-2005-08-3334}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.45811209G>A" "" "pathogenic (recessive)" "" "0000876489" "3" "90" "11" "45832801" "45832801" "subst" "0" "00006" "SLC35C1_000039" "g.45832801A>G" "" "{PMID:Gazit 2010:20099014}, {DOI:Gazit 2010:10.1007/s10875-009-9354-0}, {PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.45811250A>G" "" "pathogenic (recessive)" "" "0000876490" "3" "90" "11" "45827497" "45827497" "subst" "4.06078E-6" "00006" "SLC35C1_000026" "g.45827497T>A" "" "{PMID:Cagdas 2014:25239688}, {DOI:Cagdas 2014:10.1007/s10875-014-0091-7}" "" "" "" "Germline" "" "" "0" "" "" "g.45805946T>A" "" "pathogenic (recessive)" "" "0000876491" "11" "90" "11" "45827529" "45827531" "del" "0" "00006" "SLC35C1_000027" "g.45827529_45827531del" "" "{PMID:Cooper 2020:32992000}, {DOI:Cooper 2020:10.1016/j.clim.2020.108599}" "" "c.177_179delTAA" "" "Germline" "" "" "0" "" "" "g.45805978_45805980del" "" "pathogenic (recessive)" "" "0000876492" "1" "90" "11" "45827443" "45827443" "subst" "0" "00006" "SLC35C1_000025" "g.45827443G>T" "" "{PMID:Jones 2013:23806237}, {DOI:Jones 2013:10.1016/j.ymgme.2013.05.012}, {PMID:Dauber 2014:24403049}, {DOI:Dauber 2014:10.1093/hmg/ddu001}" "" "" "" "Germline" "" "" "0" "" "" "g.45805892G>T" "" "pathogenic (recessive)" "" "0000876493" "3" "90" "11" "45827619" "45827619" "del" "0" "00006" "SLC35C1_000028" "g.45827619del" "" "{PMID:Grabowski 2019:30630937}, {DOI:Grabowski 2019:10.1074/mcp.RA118.001141}" "" "c.267delA" "" "Germline" "" "" "0" "" "" "g.45806068del" "" "pathogenic (recessive)" "" "0000876494" "3" "90" "11" "45832494" "45832496" "del" "0" "00006" "SLC35C1_000030" "g.45832494_45832496del" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.45810943_45810945del" "" "pathogenic (recessive)" "" "0000876495" "1" "90" "11" "45832682" "45832682" "subst" "0" "00006" "SLC35C1_000035" "g.45832682T>G" "" "{PMID:Knapp 2020:32313197}, {DOI:Knapp 2020:10.1038/s10038-020-0764-4}" "" "" "" "Germline" "" "" "0" "" "" "g.45811131T>G" "" "pathogenic (recessive)" "" "0000876496" "1" "90" "11" "45832733" "45832733" "subst" "4.09853E-6" "00006" "SLC35C1_000037" "g.45832733C>G" "" "{PMID:Tahata 2022:35338746}, {DOI:Tahata 2022:10.1002/ajmg.a.62737}, {PMID:Starosta 2021:33413482}, {DOI:Starosta 2021:10.1186/s13023-020-01630-2}, {PMID:Klee 2021:33144682}, {DOI:Klee 2021:10.1038/s41436-020-01005-9}" "" "" "" "Germline" "" "" "0" "" "" "g.45811182C>G" "" "pathogenic (recessive)" "" "0000876497" "1" "90" "11" "45832669" "45832669" "subst" "2.44557E-5" "00006" "SLC35C1_000033" "g.45832669C>T" "" "{PMID:Tahata 2022:35338746}, {DOI:Tahata 2022:10.1002/ajmg.a.62737}" "" "" "" "Germline" "" "" "0" "" "" "g.45811118C>T" "" "pathogenic (recessive)" "" "0000876498" "3" "90" "11" "45832678" "45832678" "subst" "0" "00006" "SLC35C1_000034" "g.45832678A>G" "" "{PMID:Dyment 2021:33098347}, {DOI:Dyment 2021:10.1002/ajmg.a.61926}" "" "" "" "Germline" "" "" "0" "" "" "g.45811127A>G" "" "pathogenic (recessive)" "" "0000876499" "0" "10" "11" "45832509" "45832509" "subst" "0.0917319" "00006" "SLC35C1_000031" "g.45832509A>G" "" "{PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "corrected after consultation authors" "SUMMARY record" "" "" "0" "" "" "g.45810958A>G" "" "benign" "" "0000876500" "0" "10" "11" "45832563" "45832563" "subst" "0" "00006" "SLC35C1_000032" "g.45832563T>C" "" "{PMID:van de Vijver 2012:22134107}, {DOI:van de Vijver 2012:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45811012T>C" "" "benign" "" "0000876503" "21" "90" "11" "45827599" "45827601" "del" "0" "00006" "SLC35C1_000040" "g.45827599_45827601del" "" "{PMID:Cooper 2020:32992000}, {DOI:Cooper 2020:10.1016/j.clim.2020.108599}" "" "247_249delGTG" "" "Germline" "" "" "0" "" "" "g.45806048_45806050del" "" "pathogenic (recessive)" "" "0000876504" "2" "90" "11" "45832669" "45832669" "subst" "2.44557E-5" "00006" "SLC35C1_000033" "g.45832669C>T" "" "{PMID:Tahata 2022:35338746}, {DOI:Tahata 2022:10.1002/ajmg.a.62737}" "" "" "" "Germline" "" "" "0" "" "" "g.45811118C>T" "" "pathogenic (recessive)" "" "0000876505" "2" "90" "11" "45832682" "45832682" "subst" "0" "00006" "SLC35C1_000035" "g.45832682T>G" "" "{PMID:Knapp 2020:32313197}, {DOI:Knapp 2020:10.1038/s10038-020-0764-4}" "" "" "" "Germline" "" "" "0" "" "" "g.45811131T>G" "" "pathogenic (recessive)" "" "0000876506" "2" "90" "11" "45832733" "45832733" "subst" "4.09853E-6" "00006" "SLC35C1_000037" "g.45832733C>G" "" "{PMID:Tahata 2022:35338746}, {DOI:Tahata 2022:10.1002/ajmg.a.62737}, {PMID:Starosta 2021:33413482}, {DOI:Starosta 2021:10.1186/s13023-020-01630-2}, {PMID:Klee 2021:33144682}, {DOI:Klee 2021:10.1038/s41436-020-01005-9}" "" "" "" "Germline" "" "" "0" "" "" "g.45811182C>G" "" "pathogenic (recessive)" "" "0000876507" "2" "90" "11" "45827443" "45827443" "subst" "0" "00006" "SLC35C1_000025" "g.45827443G>T" "" "{PMID:Jones 2013:23806237}, {DOI:Jones 2013:10.1016/j.ymgme.2013.05.012}, {PMID:Dauber 2014:24403049}, {DOI:Dauber 2014:10.1093/hmg/ddu001}" "" "" "" "Germline" "" "" "0" "" "" "g.45805892G>T" "" "pathogenic (recessive)" "" "0000879690" "0" "10" "11" "45832838" "45832838" "subst" "0.000905879" "00006" "SLC35C1_000023" "g.45832838G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.45811287G>A" "" "benign" "" "0000936369" "0" "10" "11" "45832388" "45832388" "subst" "8.611E-5" "00006" "SLC35C1_000041" "g.45832388C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_018389:c.C597T (T199T)" "" "De novo" "" "" "0" "" "" "" "" "benign" "" "0000979578" "0" "50" "11" "45832881" "45832881" "subst" "6.95575E-6" "01804" "SLC35C1_000042" "g.45832881G>A" "" "" "" "SLC35C1(NM_018389.5):c.1090G>A (p.(Val364Met))" "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 SLC35C1 ## Count = 56 "{{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}}" "0000000232" "00000160" "50" "1144" "0" "1144" "0" "c.*49G>A" "r.(=)" "p.(=)" "" "0000298300" "00000160" "70" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Gly184Asp)" "" "0000302235" "00000160" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Cys174=)" "" "0000308431" "00000160" "50" "1055" "0" "1055" "0" "c.1055C>A" "r.(?)" "p.(Pro352His)" "" "0000308432" "00000160" "50" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Leu47Phe)" "" "0000322204" "00000160" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "" "0000322205" "00000160" "90" "503" "0" "505" "0" "c.503_505del" "r.(?)" "p.(Phe168del)" "" "0000543932" "00000160" "30" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Ser9=)" "" "0000543933" "00000160" "30" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Ala28Thr)" "" "0000543934" "00000160" "30" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Thr85Met)" "" "0000543935" "00000160" "50" "503" "0" "505" "0" "c.503_505del" "r.(?)" "p.(Phe168del)" "" "0000543936" "00000160" "90" "503" "0" "505" "0" "c.503_505del" "r.(?)" "p.(Phe168del)" "" "0000543937" "00000160" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Cys174=)" "" "0000543938" "00000160" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "" "0000543940" "00000160" "30" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Pro352Ser)" "" "0000613338" "00000160" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Leu249=)" "" "0000613339" "00000160" "50" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Thr301Met)" "" "0000648254" "00000160" "30" "2675" "0" "2675" "0" "c.*1580C>T" "r.(=)" "p.(=)" "" "0000669122" "00000160" "30" "2675" "0" "2675" "0" "c.*1580C>T" "r.(=)" "p.(=)" "" "0000679188" "00000160" "30" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Arg115=)" "" "0000691066" "00000160" "30" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Val200Ile)" "" "0000723449" "00000160" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Pro293=)" "" "0000805125" "00000160" "50" "78" "0" "83" "0" "c.78_83dup" "r.(?)" "p.(Glu27_Ala28dup)" "" "0000805126" "00000160" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Gly273=)" "" "0000805127" "00000160" "30" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Pro349=)" "" "0000852905" "00000160" "50" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "" "0000852906" "00000160" "30" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Pro352Ser)" "" "0000862533" "00000160" "30" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000876481" "00000160" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "" "0000876482" "00000160" "90" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Thr308Arg)" "" "0000876483" "00000160" "90" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Thr308Arg)" "" "0000876484" "00000160" "90" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Thr308Arg)" "" "0000876485" "00000160" "90" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Thr308Arg)" "" "0000876486" "00000160" "90" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Thr308Arg)" "" "0000876487" "00000160" "90" "588" "0" "588" "0" "c.588del" "r.(?)" "p.(Trp196CysfsTer35)" "" "0000876488" "00000160" "90" "969" "0" "969" "0" "c.969G>A" "r.(?)" "p.(Trp323Ter)" "" "0000876489" "00000160" "90" "1010" "0" "1010" "0" "c.1010A>G" "r.(?)" "p.(Tyr337Cys)" "" "0000876490" "00000160" "90" "145" "0" "145" "0" "c.145T>A" "r.(?)" "p.(Trp49Arg)" "" "0000876491" "00000160" "90" "177" "0" "179" "0" "c.177_179del" "r.(?)" "p.(Asn59del)" "" "0000876492" "00000160" "90" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Glu31Ter)" "" "0000876493" "00000160" "90" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Gly90AlafsTer38)" "" "0000876494" "00000160" "90" "703" "0" "705" "0" "c.703_705del" "r.(703_705del)" "p.(Asn235del)" "" "0000876495" "00000160" "90" "891" "0" "891" "0" "c.891T>G" "r.(?)" "p.(Asn297Lys)" "" "0000876496" "00000160" "90" "942" "0" "942" "0" "c.942C>G" "r.(?)" "p.(Tyr314Ter)" "" "0000876497" "00000160" "90" "878" "0" "878" "0" "c.878C>T" "r.(?)" "p.(Pro293Leu)" "" "0000876498" "00000160" "90" "887" "0" "887" "0" "c.887A>G" "r.(?)" "p.(His296Arg)" "" "0000876499" "00000160" "10" "718" "0" "718" "0" "c.718A>G" "r.(?)" "p.(Ile240Val)" "" "0000876500" "00000160" "10" "772" "0" "772" "0" "c.772T>C" "r.(?)" "p.(Phe258Leu)" "" "0000876503" "00000160" "90" "247" "0" "249" "0" "c.247_249del" "r.(?)" "p.(Val83del)" "" "0000876504" "00000160" "90" "878" "0" "878" "0" "c.878C>T" "r.(?)" "p.(Pro293Leu)" "" "0000876505" "00000160" "90" "891" "0" "891" "0" "c.891T>G" "r.(?)" "p.(Asn297Lys)" "" "0000876506" "00000160" "90" "942" "0" "942" "0" "c.942C>G" "r.(?)" "p.(Tyr314Ter)" "" "0000876507" "00000160" "90" "91" "0" "91" "0" "c.91G>T" "r.(?)" "p.(Glu31Ter)" "" "0000879690" "00000160" "10" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Pro349=)" "" "0000936369" "00000160" "10" "597" "0" "597" "0" "c.597C>T" "r.(=)" "p.(=)" "" "0000979578" "00000160" "50" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Val364Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000000029" "0000000232" "0000291565" "0000648254" "0000305434" "0000669122" "0000378457" "0000000232" "0000416992" "0000876481" "0000416993" "0000876482" "0000416994" "0000876483" "0000416995" "0000876484" "0000416996" "0000876485" "0000416997" "0000876486" "0000416998" "0000876487" "0000416999" "0000876488" "0000417000" "0000876489" "0000417001" "0000876490" "0000417002" "0000876491" "0000417002" "0000876503" "0000417003" "0000876492" "0000417003" "0000876507" "0000417004" "0000876493" "0000417005" "0000876494" "0000417006" "0000876495" "0000417006" "0000876505" "0000417007" "0000876496" "0000417007" "0000876506" "0000417008" "0000876497" "0000417008" "0000876504" "0000417009" "0000876498" "0000417011" "0000876500" "0000440052" "0000936369"