### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SUMF1) # 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}}" "SUMF1" "sulfatase modifying factor 1" "3" "p26.1" "unknown" "NC_000003.11" "UD_132118132053" "" "https://www.LOVD.nl/SMUF1" "" "1" "20376" "285362" "607939" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SUMF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-11-04 21:51:15" "00000" "2025-12-02 06:10:03" ## 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}}" "00020562" "SUMF1" "transcript variant 1" "003" "NM_182760.3" "" "NP_877437.2" "" "" "" "-37" "2124" "1125" "4508966" "4402829" "" "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}}" "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" "02088" "MSD" "sulfatase deficiency, multiple (MSD)" "AR" "272200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SUMF1" "02088" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00293393" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293394" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00387862" "" "" "" "4" "" "00006" "{PMID:Hu 2019:29302074}" "family, 4 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8900233" "00467991" "" "" "" "8" "" "00006" "{PMID:Van De Leemput 2007:17590087}" "4-generation family, 8 affected (5F, 3M)" "F;M" "" "Australia" "" "0" "" "" "" "FamA" "00467992" "" "" "" "4" "" "00006" "{PMID:Van De Leemput 2007:17590087}" "3-generation family, 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamH33" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00293393" "00198" "00293394" "00198" "00387862" "00139" "00467991" "04167" "00467992" "04167" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02088, 04167 ## Count = 3 "{{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}}" "0000281430" "00139" "00387862" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, leukoencephalopathy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000353143" "04167" "00467991" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SCA15" "spinocerebellar ataxia" "" "0000353144" "04167" "00467992" "00006" "Familial, autosomal dominant" "" "cerebellar ataxia" "" "" "" "" "" "" "" "" "SCA15" "spinocerebellar ataxia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294561" "00293393" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294562" "00293394" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000389093" "00387862" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469657" "00467991" "1" "00006" "00006" "2025-11-04 21:27:58" "" "" "arrayCGH;PCR;SEQ" "DNA" "" "" "0000469658" "00467992" "1" "00006" "00006" "2025-11-04 21:42:41" "" "" "arrayCGH;PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000389093" "SUMF1" "0000469657" "ITPR1" "0000469658" "ITPR1" ## 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 = 40 "{{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}}" "0000248531" "0" "10" "3" "4403837" "4403837" "subst" "0.642584" "02325" "SUMF1_000001" "g.4403837A>G" "" "" "" "SUMF1(NM_182760.4):c.1116T>C (p.T372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4362153A>G" "" "benign" "" "0000311617" "0" "10" "3" "4403818" "4403818" "subst" "0.503708" "02325" "SUMF1_000003" "g.4403818T>C" "" "" "" "SUMF1(NM_182760.4):c.*10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4362134T>C" "" "benign" "" "0000311618" "0" "10" "3" "4403817" "4403817" "subst" "0.633579" "02325" "SUMF1_000002" "g.4403817T>A" "" "" "" "SUMF1(NM_182760.4):c.*11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4362133T>A" "" "benign" "" "0000329212" "0" "50" "3" "4452611" "4452611" "subst" "1.21948E-5" "01804" "SUMF1_000004" "g.4452611C>T" "" "" "" "SUMF1(NM_001164674.1):c.817G>A (p.(Ala273Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4410927C>T" "" "VUS" "" "0000519855" "0" "10" "3" "4403817" "4403817" "subst" "0.633579" "02327" "SUMF1_000002" "g.4403817T>A" "" "" "" "SUMF1(NM_182760.4):c.*11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4362133T>A" "" "benign" "" "0000519856" "0" "10" "3" "4403818" "4403818" "subst" "0.503708" "02327" "SUMF1_000003" "g.4403818T>C" "" "" "" "SUMF1(NM_182760.4):c.*10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4362134T>C" "" "benign" "" "0000519857" "0" "10" "3" "4403837" "4403837" "subst" "0.642584" "02327" "SUMF1_000001" "g.4403837A>G" "" "" "" "SUMF1(NM_182760.4):c.1116T>C (p.T372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4362153A>G" "" "benign" "" "0000519859" "0" "50" "3" "4508724" "4508724" "subst" "2.27438E-5" "01804" "SUMF1_000005" "g.4508724C>G" "" "" "" "SUMF1(NM_001164674.1):c.206G>C (p.(Arg69Pro)), SUMF1(NM_182760.3):c.206G>C (p.R69P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4467040C>G" "" "VUS" "" "0000519860" "0" "10" "3" "4508742" "4508742" "subst" "0.214936" "02327" "SUMF1_000006" "g.4508742C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4467058C>T" "" "benign" "" "0000608721" "0" "50" "3" "4459755" "4459755" "subst" "0.00166554" "02327" "SUMF1_000007" "g.4459755C>G" "" "" "" "SUMF1(NM_001164674.1):c.589G>C (p.(Gly197Arg)), SUMF1(NM_182760.3):c.664G>C (p.G222R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4418071C>G" "" "VUS" "" "0000608724" "0" "30" "3" "4508691" "4508691" "subst" "4.33848E-5" "01943" "SUMF1_000008" "g.4508691A>T" "" "" "" "SUMF1(NM_182760.3):c.239T>A (p.V80E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4467007A>T" "" "likely benign" "" "0000651250" "1" "50" "3" "4458816" "4458816" "subst" "9.75689E-5" "03575" "SUMF1_000009" "g.4458816G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs137852849}" "Germline" "" "rs137852849" "0" "" "" "g.4417132G>A" "" "VUS" "" "0000651251" "1" "50" "3" "4459755" "4459755" "subst" "0.00166554" "03575" "SUMF1_000007" "g.4459755C>G" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs137917233}" "Germline" "" "rs137917233" "0" "" "" "g.4418071C>G" "" "VUS" "" "0000654958" "0" "30" "3" "4452542" "4452542" "subst" "6.50544E-5" "01943" "SUMF1_000010" "g.4452542T>C" "" "" "" "SUMF1(NM_182760.3):c.954+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4410858T>C" "" "likely benign" "" "0000654959" "0" "50" "3" "4459755" "4459755" "subst" "0.00166554" "01943" "SUMF1_000007" "g.4459755C>G" "" "" "" "SUMF1(NM_001164674.1):c.589G>C (p.(Gly197Arg)), SUMF1(NM_182760.3):c.664G>C (p.G222R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4418071C>G" "" "VUS" "" "0000654960" "0" "30" "3" "4459777" "4459777" "subst" "0.000621613" "01943" "SUMF1_000011" "g.4459777C>T" "" "" "" "SUMF1(NM_182760.3):c.642G>A (p.A214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4418093C>T" "" "likely benign" "" "0000676989" "0" "50" "3" "4459755" "4459755" "subst" "0.00166554" "01804" "SUMF1_000007" "g.4459755C>G" "" "" "" "SUMF1(NM_001164674.1):c.589G>C (p.(Gly197Arg)), SUMF1(NM_182760.3):c.664G>C (p.G222R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676990" "0" "30" "3" "4490964" "4490964" "subst" "1.62441E-5" "01804" "SUMF1_000012" "g.4490964T>G" "" "" "" "SUMF1(NM_001164675.1):c.505A>C (p.(Asn169His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676991" "0" "30" "3" "4490975" "4490975" "subst" "0" "01943" "SUMF1_000013" "g.4490975T>C" "" "" "" "SUMF1(NM_182760.3):c.494A>G (p.Q165R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676992" "0" "50" "3" "4508724" "4508724" "subst" "2.27438E-5" "01943" "SUMF1_000005" "g.4508724C>G" "" "" "" "SUMF1(NM_001164674.1):c.206G>C (p.(Arg69Pro)), SUMF1(NM_182760.3):c.206G>C (p.R69P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719436" "0" "50" "3" "4490950" "4490950" "subst" "0.000552284" "01943" "SUMF1_000014" "g.4490950T>C" "" "" "" "SUMF1(NM_182760.3):c.519A>G (p.A173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719437" "0" "30" "3" "4494705" "4494705" "subst" "4.06659E-6" "01943" "SUMF1_000015" "g.4494705G>C" "" "" "" "SUMF1(NM_182760.3):c.299C>G (p.T100R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719438" "0" "30" "3" "4508693" "4508693" "subst" "8.28686E-5" "01943" "SUMF1_000016" "g.4508693G>C" "" "" "" "SUMF1(NM_182760.3):c.237C>G (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719439" "0" "30" "3" "4508813" "4508813" "subst" "0" "01943" "SUMF1_000017" "g.4508813G>C" "" "" "" "SUMF1(NM_182760.3):c.117C>G (p.T39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801230" "0" "50" "3" "4459778" "4459778" "subst" "2.84426E-5" "01943" "SUMF1_000018" "g.4459778G>A" "" "" "" "SUMF1(NM_182760.3):c.641C>T (p.A214V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801231" "0" "30" "3" "4491010" "4491010" "subst" "2.03084E-5" "01943" "SUMF1_000019" "g.4491010G>A" "" "" "" "SUMF1(NM_182760.3):c.459C>T (p.G153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801232" "0" "50" "3" "4508718" "4508718" "subst" "0.000367631" "01804" "SUMF1_000020" "g.4508718G>A" "" "" "" "SUMF1(NM_001164674.1):c.212C>T (p.(Ser71Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817886" "3" "70" "3" "4403877" "4403877" "subst" "0" "00006" "SUMF1_000021" "g.4403877G>C" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.4362193G>C" "" "likely pathogenic (recessive)" "ACMG" "0000850334" "0" "30" "3" "4452612" "4452612" "subst" "0.000219528" "01943" "SUMF1_000022" "g.4452612G>A" "" "" "" "SUMF1(NM_182760.3):c.891C>T (p.N297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850335" "0" "50" "3" "4508872" "4508872" "subst" "6.77157E-5" "01943" "SUMF1_000024" "g.4508872G>A" "" "" "" "SUMF1(NM_001164674.1):c.58C>T (p.(Leu20Phe)), SUMF1(NM_182760.3):c.58C>T (p.L20F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859027" "0" "50" "3" "4508715" "4508715" "subst" "0" "01943" "SUMF1_000023" "g.4508715C>A" "" "" "" "SUMF1(NM_182760.3):c.215G>T (p.R72L), SUMF1(NM_182760.4):c.215G>T (p.(Arg72Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885844" "0" "30" "3" "4508872" "4508872" "subst" "6.77157E-5" "01804" "SUMF1_000024" "g.4508872G>A" "" "" "" "SUMF1(NM_001164674.1):c.58C>T (p.(Leu20Phe)), SUMF1(NM_182760.3):c.58C>T (p.L20F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948174" "0" "50" "3" "4452628" "4452628" "subst" "0.000199242" "01804" "SUMF1_000025" "g.4452628T>C" "" "" "" "SUMF1(NM_182760.3):c.875A>G (p.(Tyr292Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975833" "0" "50" "3" "4508715" "4508715" "subst" "0" "01804" "SUMF1_000023" "g.4508715C>A" "" "" "" "SUMF1(NM_182760.3):c.215G>T (p.R72L), SUMF1(NM_182760.4):c.215G>T (p.(Arg72Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033964" "0" "90" "3" "4459713" "4459713" "subst" "8.12546E-6" "01804" "SUMF1_000026" "g.4459713G>A" "" "" "" "SUMF1(NM_182760.4):c.706C>T (p.(Arg236*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033969" "0" "50" "3" "4494703" "4494703" "subst" "1.62639E-5" "01804" "SUMF1_000027" "g.4494703T>C" "" "" "" "SUMF1(NM_182760.4):c.301A>G (p.(Met101Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051191" "0" "50" "3" "4461766" "4461766" "subst" "0" "01804" "SUMF1_000028" "g.4461766T>C" "" "" "" "SUMF1(NM_182760.4):c.584A>G (p.(Asp195Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057697" "1" "90" "3" "4488008" "4689516" "del" "0" "00006" "ITPR1_000214" "g.4488008_4689516del" "" "{PMID:Van De Leemput 2007:17590087}" "" "" "201kb deletion" "Germline" "yes" "" "0" "" "" "g.4446324_4647832del" "" "pathogenic (dominant)" "" "0001057698" "1" "90" "3" "4475712" "4820118" "del" "0" "00006" "ITPR1_000214" "g.4475712_4820118del" "" "{PMID:Van De Leemput 2007:17590087}" "" "" "344kb deletion" "Germline" "yes" "" "0" "" "" "g.4434028_4778434del" "" "pathogenic (dominant)" "" "0001060426" "0" "90" "3" "4461747" "4461747" "subst" "1.62694E-5" "03779" "chr3_007394" "g.4461747C>T" "" "" "" "" "" "Unknown" "" "rs143616931" "0" "" "" "" "" "pathogenic" "" ## 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 SUMF1 ## Count = 40 "{{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}}" "0000248531" "00020562" "10" "1116" "0" "1116" "0" "c.1116T>C" "r.(?)" "p.(Thr372=)" "" "0000311617" "00020562" "10" "1135" "0" "1135" "0" "c.*10A>G" "r.(=)" "p.(=)" "" "0000311618" "00020562" "10" "1136" "0" "1136" "0" "c.*11A>T" "r.(=)" "p.(=)" "" "0000329212" "00020562" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Ala298Thr)" "" "0000519855" "00020562" "10" "1136" "0" "1136" "0" "c.*11A>T" "r.(=)" "p.(=)" "" "0000519856" "00020562" "10" "1135" "0" "1135" "0" "c.*10A>G" "r.(=)" "p.(=)" "" "0000519857" "00020562" "10" "1116" "0" "1116" "0" "c.1116T>C" "r.(?)" "p.(Thr372=)" "" "0000519859" "00020562" "50" "206" "0" "206" "0" "c.206G>C" "r.(?)" "p.(Arg69Pro)" "" "0000519860" "00020562" "10" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Ser63Asn)" "" "0000608721" "00020562" "50" "664" "0" "664" "0" "c.664G>C" "r.(?)" "p.(Gly222Arg)" "" "0000608724" "00020562" "30" "239" "0" "239" "0" "c.239T>A" "r.(?)" "p.(Val80Glu)" "" "0000651250" "00020562" "50" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Ala279Val)" "" "0000651251" "00020562" "50" "664" "0" "664" "0" "c.664G>C" "r.(?)" "p.(Gly222Arg)" "" "0000654958" "00020562" "30" "954" "7" "954" "7" "c.954+7A>G" "r.(=)" "p.(=)" "" "0000654959" "00020562" "50" "664" "0" "664" "0" "c.664G>C" "r.(?)" "p.(Gly222Arg)" "" "0000654960" "00020562" "30" "642" "0" "642" "0" "c.642G>A" "r.(?)" "p.(Ala214=)" "" "0000676989" "00020562" "50" "664" "0" "664" "0" "c.664G>C" "r.(?)" "p.(Gly222Arg)" "" "0000676990" "00020562" "30" "505" "0" "505" "0" "c.505A>C" "r.(?)" "p.(Asn169His)" "" "0000676991" "00020562" "30" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Gln165Arg)" "" "0000676992" "00020562" "50" "206" "0" "206" "0" "c.206G>C" "r.(?)" "p.(Arg69Pro)" "" "0000719436" "00020562" "50" "519" "0" "519" "0" "c.519A>G" "r.(?)" "p.(Ala173=)" "" "0000719437" "00020562" "30" "299" "0" "299" "0" "c.299C>G" "r.(?)" "p.(Thr100Arg)" "" "0000719438" "00020562" "30" "237" "0" "237" "0" "c.237C>G" "r.(?)" "p.(Pro79=)" "" "0000719439" "00020562" "30" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Thr39=)" "" "0000801230" "00020562" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Ala214Val)" "" "0000801231" "00020562" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Gly153=)" "" "0000801232" "00020562" "50" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Ser71Leu)" "" "0000817886" "00020562" "70" "1076" "0" "1076" "0" "c.1076C>G" "r.(?)" "p.(Ser359Trp)" "" "0000850334" "00020562" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Asn297=)" "" "0000850335" "00020562" "50" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Leu20Phe)" "" "0000859027" "00020562" "50" "215" "0" "215" "0" "c.215G>T" "r.(?)" "p.(Arg72Leu)" "" "0000885844" "00020562" "30" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Leu20Phe)" "" "0000948174" "00020562" "50" "875" "0" "875" "0" "c.875A>G" "r.(?)" "p.(Tyr292Cys)" "" "0000975833" "00020562" "50" "215" "0" "215" "0" "c.215G>T" "r.(?)" "p.(Arg72Leu)" "" "0001033964" "00020562" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Arg236*)" "" "0001033969" "00020562" "50" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Met101Val)" "" "0001051191" "00020562" "50" "584" "0" "584" "0" "c.584A>G" "r.(?)" "p.(Asp195Gly)" "" "0001057697" "00020562" "90" "-180587" "0" "519" "2942" "c.-180587_519+2942del" "r.0?" "p.0?" "_1_3i" "0001057698" "00020562" "90" "-311189" "0" "520" "-13882" "c.-311189_520-13882del" "r.0?" "p.0?" "_1_3i" "0001060426" "00020562" "90" "602" "1" "602" "1" "c.602+1G>A" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000294561" "0000651250" "0000294562" "0000651251" "0000389093" "0000817886" "0000469657" "0001057697" "0000469658" "0001057698"