### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DDOST) # 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}}" "DDOST" "dolichyl-diphosphooligosaccharide--protein glycosyltransferase" "1" "p36.1" "unknown" "NG_032064.1" "UD_132455676040" "" "https://www.LOVD.nl/DDOST" "Congenital Disorder of Glycosylation pages " "1" "2728" "1650" "602202" "1" "1" "1" "1" "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" "http://databases.lovd.nl/shared/refseq/DDOST_codingDNA.html" "1" "" "\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2010-02-10 00:00:00" "00006" "2017-06-29 16:24:02" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006205" "DDOST" "dolichyl-diphosphooligosaccharide--protein glycosyltransferase" "001" "NM_005216.4" "" "NP_005207.2" "" "" "" "-143" "1983" "1371" "20988037" "20978260" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03673" "CDG1R" "glycosylation, congenital disorder of, type Ir (CDG-1R)" "AR" "614507" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DDOST" "03673" ## 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}}" "00050634" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00106652" "" "" "" "1" "" "00006" "{PMID:Jones 2012:22305527}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sister" "M" "" "United States" "" "0" "" "" "Northern European" "22305527-FamPatII1" "00289676" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289678" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289680" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00050634" "00198" "00106652" "03673" "00289676" "00198" "00289678" "00198" "00289680" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03673 ## Count = 2 "{{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}}" "0000037246" "00198" "00050634" "00006" "Isolated (sporadic)" "" "supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability" "" "" "" "" "" "" "" "" "" "" "" "0000084459" "03673" "00106652" "00006" "Unknown" "07y06m" "untyped; Congenital disorders of glycosylation (CDG)" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000050579" "00050634" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000107123" "00106652" "0" "00006" "00002" "2012-02-10 21:09:15" "" "" "SEQ" "DNA" "" "" "0000290844" "00289676" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290846" "00289678" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290848" "00289680" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000107123" "DDOST" ## 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 = 42 "{{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}}" "0000079559" "0" "90" "1" "20540741" "22890410" "del" "0" "00006" "HSPG2_000007" "g.20540741_22890410del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.20214248_22563917del" "" "pathogenic" "" "0000172878" "21" "77" "1" "20981153" "20981153" "subst" "0" "00006" "DDOST_000001" "g.20981153C>T" "" "{PMID:Jones 2012:22305527}" "" "" "0.64 of reads" "Germline" "" "" "0" "" "" "g.20654660C>T" "" "likely pathogenic" "" "0000172879" "11" "77" "1" "20978958" "20978979" "del" "0" "00006" "DDOST_000002" "g.20978958_20978979del" "" "{PMID:Jones 2012:22305527}" "" "1265_1286del22" "0.41 of reads" "Germline" "" "" "0" "" "" "g.20652465_20652486del" "" "likely pathogenic" "" "0000247895" "0" "10" "1" "20977000" "20977000" "subst" "0.293036" "02325" "PINK1_000062" "g.20977000A>C" "" "" "" "PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20650507A>C" "" "benign" "" "0000249873" "0" "10" "1" "20977000" "20977000" "subst" "0.293036" "02329" "PINK1_000062" "g.20977000A>C" "" "" "" "PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20650507A>C" "" "benign" "" "0000250183" "0" "10" "1" "20974802" "20974802" "subst" "0" "02329" "PINK1_000086" "g.20974802A>G" "" "" "" "PINK1(NM_032409.3):c.1124-196A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20648309A>G" "" "benign" "" "0000253097" "0" "10" "1" "20977000" "20977000" "subst" "0.293036" "01943" "PINK1_000062" "g.20977000A>C" "" "" "" "PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20650507A>C" "" "benign" "" "0000267297" "0" "10" "1" "20987873" "20987873" "subst" "0.994082" "02325" "DDOST_000006" "g.20987873G>C" "" "" "" "DDOST(NM_005216.5):c.-30C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000267298" "0" "10" "1" "20982151" "20982151" "subst" "0.178243" "02325" "DDOST_000005" "g.20982151G>A" "" "" "" "DDOST(NM_005216.5):c.456+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20655658G>A" "" "benign" "" "0000267299" "0" "30" "1" "20981976" "20981976" "subst" "0.000767513" "02325" "DDOST_000004" "g.20981976C>T" "" "" "" "DDOST(NM_005216.5):c.508G>A (p.(Val170Ile), p.V170I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20655483C>T" "" "likely benign" "" "0000267300" "0" "10" "1" "20980880" "20980880" "subst" "0.375911" "02325" "DDOST_000003" "g.20980880G>A" "" "" "" "DDOST(NM_005216.5):c.646-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20654387G>A" "" "benign" "" "0000296974" "0" "30" "1" "20974999" "20974999" "subst" "2.84576E-5" "02325" "PINK1_000087" "g.20974999C>T" "" "" "" "PINK1(NM_032409.3):c.1125C>T (p.D375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20648506C>T" "" "likely benign" "" "0000296975" "0" "30" "1" "20975105" "20975105" "subst" "0.00186268" "02325" "PINK1_000056" "g.20975105G>A" "" "" "" "PINK1(NM_032409.2):c.1231G>A (p.G411S), PINK1(NM_032409.3):c.1231G>A (p.G411S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20648612G>A" "" "likely benign" "" "0000296976" "0" "90" "1" "20975710" "20975710" "subst" "7.74612E-5" "02325" "PINK1_000036" "g.20975710C>T" "" "" "" "PINK1(NM_032409.2):c.1474C>T (p.R492*), PINK1(NM_032409.3):c.1474C>T (p.R492*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20649217C>T" "" "pathogenic" "" "0000298871" "0" "10" "1" "20976759" "20976759" "subst" "0" "02329" "PINK1_000088" "g.20976759C>T" "" "" "" "PINK1(NM_032409.3):c.1489-168C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20650266C>T" "" "benign" "" "0000305675" "0" "30" "1" "20975021" "20975021" "subst" "0.000276367" "01943" "PINK1_000055" "g.20975021G>A" "" "" "" "PINK1(NM_032409.2):c.1147G>A (p.A383T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20648528G>A" "" "likely benign" "" "0000305676" "0" "90" "1" "20975602" "20975602" "subst" "4.06352E-5" "01943" "PINK1_000032" "g.20975602C>T" "" "" "" "PINK1(NM_032409.2):c.1366C>T (p.Q456*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20649109C>T" "" "pathogenic" "" "0000305677" "0" "90" "1" "20975710" "20975710" "subst" "7.74612E-5" "01943" "PINK1_000036" "g.20975710C>T" "" "" "" "PINK1(NM_032409.2):c.1474C>T (p.R492*), PINK1(NM_032409.3):c.1474C>T (p.R492*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20649217C>T" "" "pathogenic" "" "0000343778" "0" "10" "1" "20977000" "20977000" "subst" "0.293036" "02327" "PINK1_000062" "g.20977000A>C" "" "" "" "PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20650507A>C" "" "benign" "" "0000505034" "0" "30" "1" "20975105" "20975105" "subst" "0.00186268" "01943" "PINK1_000056" "g.20975105G>A" "" "" "" "PINK1(NM_032409.2):c.1231G>A (p.G411S), PINK1(NM_032409.3):c.1231G>A (p.G411S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20648612G>A" "" "likely benign" "" "0000505036" "0" "30" "1" "20977002" "20977002" "subst" "0" "02325" "DDOST_000008" "g.20977002C>T" "" "" "" "PINK1(NM_032409.3):c.1564C>T (p.L522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20650509C>T" "" "likely benign" "" "0000505037" "0" "90" "1" "20977008" "20977011" "dup" "0" "01943" "PINK1_000038" "g.20977008_20977011dup" "" "" "" "PINK1(NM_032409.2):c.1570_1573dupTTAG (p.D525Vfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20650515_20650518dup" "" "pathogenic" "" "0000505046" "0" "10" "1" "20982631" "20982631" "subst" "0.57967" "02325" "DDOST_000010" "g.20982631G>A" "" "" "" "DDOST(NM_005216.5):c.315C>T (p.G105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20656138G>A" "" "benign" "" "0000505047" "0" "50" "1" "20987764" "20987764" "subst" "0" "01804" "DDOST_000011" "g.20987764C>G" "" "" "" "DDOST(NM_005216.4):c.131G>C (p.(Gly44Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20661271C>G" "" "VUS" "" "0000647533" "1" "50" "1" "20979148" "20979148" "subst" "0.000134007" "03575" "DDOST_000013" "g.20979148C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs74526704}" "Germline" "" "rs74526704" "0" "" "" "g.20652655C>T" "" "VUS" "" "0000647535" "1" "50" "1" "20980169" "20980169" "subst" "0.00301474" "03575" "DDOST_000014" "g.20980169C>T" "14/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; {DB:CLININrs117925699}" "Germline" "" "rs117925699" "0" "" "" "g.20653676C>T" "" "VUS" "" "0000647537" "1" "50" "1" "20981976" "20981976" "subst" "0.000767513" "03575" "DDOST_000004" "g.20981976C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs111334879}" "Germline" "" "rs111334879" "0" "" "" "g.20655483C>T" "" "VUS" "" "0000653871" "0" "30" "1" "20980799" "20980799" "subst" "0.00139301" "01943" "DDOST_000015" "g.20980799G>A" "" "" "" "DDOST(NM_005216.4):c.762C>T (p.R254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20654306G>A" "" "likely benign" "" "0000717123" "0" "50" "1" "20980247" "20980247" "subst" "6.11142E-5" "01943" "DDOST_000016" "g.20980247T>C" "" "" "" "DDOST(NM_005216.4):c.866A>G (p.Y289C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799044" "0" "30" "1" "20975135" "20975135" "subst" "0.000150859" "01943" "DDOST_000017" "g.20975135G>A" "" "" "" "PINK1(NM_032409.2):c.1251+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799045" "0" "30" "1" "20975598" "20975598" "subst" "0.000329191" "01943" "DDOST_000018" "g.20975598C>T" "" "" "" "PINK1(NM_032409.2):c.1362C>T (p.Y454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799046" "0" "50" "1" "20977011" "20977011" "subst" "7.30911E-5" "01943" "PINK1_000039" "g.20977011G>A" "" "" "" "PINK1(NM_032409.2):c.1573G>A (p.D525N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910921" "0" "10" "1" "20977221" "20977221" "subst" "0.862221" "02325" "DDOST_000019" "g.20977221A>T" "" "" "" "PINK1(NM_032409.3):c.*37A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923063" "0" "10" "1" "20975047" "20975047" "subst" "0.00293403" "02329" "DDOST_000020" "g.20975047T>C" "" "" "" "PINK1(NM_032409.3):c.1173T>C (p.D391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973600" "0" "10" "1" "20976940" "20976940" "subst" "0.00250157" "02329" "DDOST_000007" "g.20976940G>A" "" "" "" "PINK1(NM_032409.3):c.1502G>A (p.R501Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973601" "0" "50" "1" "20980798" "20980798" "subst" "9.09244E-5" "01804" "DDOST_000021" "g.20980798C>T" "" "" "" "DDOST(NM_005216.5):c.712G>A (p.(Val238Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973602" "0" "30" "1" "20981976" "20981976" "subst" "0.000767513" "01804" "DDOST_000004" "g.20981976C>T" "" "" "" "DDOST(NM_005216.5):c.508G>A (p.(Val170Ile), p.V170I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973603" "0" "50" "1" "20982638" "20982638" "subst" "7.3097E-5" "01804" "DDOST_000022" "g.20982638A>G" "" "" "" "DDOST(NM_005216.5):c.308T>C (p.(Ile103Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031624" "0" "50" "1" "20979136" "20979136" "subst" "0.00114111" "01804" "DDOST_000023" "g.20979136G>A" "" "" "" "DDOST(NM_005216.5):c.1148C>T (p.(Thr383Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031625" "0" "50" "1" "20980758" "20980758" "subst" "6.69084E-5" "01804" "DDOST_000024" "g.20980758A>G" "" "" "" "DDOST(NM_005216.5):c.752T>C (p.(Phe251Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031626" "0" "50" "1" "20982196" "20982196" "subst" "0" "01804" "DDOST_000025" "g.20982196G>C" "" "" "" "DDOST(NM_005216.5):c.429C>G (p.(His143Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031627" "0" "50" "1" "20987702" "20987702" "subst" "0.00012642" "01804" "DDOST_000026" "g.20987702G>A" "" "" "" "DDOST(NM_005216.5):c.142C>T (p.(Arg48Trp))" "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 DDOST ## Count = 42 "{{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}}" "0000079559" "00006205" "00" "-1902516" "0" "439502" "0" "c.-1902516_*438131del" "r.?" "p.?" "" "0000172878" "00006205" "77" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Gly217Asp)" "6" "0000172879" "00006205" "77" "1265" "0" "1286" "0" "c.1265_1286del" "r.(?)" "p.(Ile422Thrfs*7)" "11" "0000247895" "00006205" "10" "3243" "0" "3243" "0" "c.*1872T>G" "r.(=)" "p.(=)" "" "0000249873" "00006205" "10" "3243" "0" "3243" "0" "c.*1872T>G" "r.(=)" "p.(=)" "" "0000250183" "00006205" "10" "5441" "0" "5441" "0" "c.*4070T>C" "r.(=)" "p.(=)" "" "0000253097" "00006205" "10" "3243" "0" "3243" "0" "c.*1872T>G" "r.(=)" "p.(=)" "" "0000267297" "00006205" "10" "22" "0" "22" "0" "c.22=" "r.(=)" "p.(Gly8=)" "" "0000267298" "00006205" "10" "507" "18" "507" "18" "c.507+18C>T" "r.(=)" "p.(=)" "" "0000267299" "00006205" "30" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Val187Ile)" "" "0000267300" "00006205" "10" "697" "-16" "697" "-16" "c.697-16C>T" "r.(=)" "p.(=)" "" "0000296974" "00006205" "30" "5244" "0" "5244" "0" "c.*3873G>A" "r.(=)" "p.(=)" "" "0000296975" "00006205" "30" "5138" "0" "5138" "0" "c.*3767C>T" "r.(=)" "p.(=)" "" "0000296976" "00006205" "90" "4533" "0" "4533" "0" "c.*3162G>A" "r.(=)" "p.(=)" "" "0000298871" "00006205" "10" "3484" "0" "3484" "0" "c.*2113G>A" "r.(=)" "p.(=)" "" "0000305675" "00006205" "30" "5222" "0" "5222" "0" "c.*3851C>T" "r.(=)" "p.(=)" "" "0000305676" "00006205" "90" "4641" "0" "4641" "0" "c.*3270G>A" "r.(=)" "p.(=)" "" "0000305677" "00006205" "90" "4533" "0" "4533" "0" "c.*3162G>A" "r.(=)" "p.(=)" "" "0000343778" "00006205" "10" "3243" "0" "3243" "0" "c.*1872T>G" "r.(=)" "p.(=)" "" "0000505034" "00006205" "30" "5138" "0" "5138" "0" "c.*3767C>T" "r.(=)" "p.(=)" "" "0000505036" "00006205" "30" "3241" "0" "3241" "0" "c.*1870G>A" "r.(=)" "p.(=)" "" "0000505037" "00006205" "90" "3234" "0" "3237" "0" "c.*1863_*1866dup" "r.(=)" "p.(=)" "" "0000505046" "00006205" "10" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Gly122=)" "" "0000505047" "00006205" "50" "131" "0" "131" "0" "c.131G>C" "r.(?)" "p.(Gly44Ala)" "" "0000647533" "00006205" "50" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Arg396Gln)" "" "0000647535" "00006205" "50" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315Gln)" "" "0000647537" "00006205" "50" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Val187Ile)" "" "0000653871" "00006205" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Arg254=)" "" "0000717123" "00006205" "50" "866" "0" "866" "0" "c.866A>G" "r.(?)" "p.(Tyr289Cys)" "" "0000799044" "00006205" "30" "5108" "0" "5108" "0" "c.*3737C>T" "r.(=)" "p.(=)" "" "0000799045" "00006205" "30" "4645" "0" "4645" "0" "c.*3274G>A" "r.(=)" "p.(=)" "" "0000799046" "00006205" "50" "3232" "0" "3232" "0" "c.*1861C>T" "r.(=)" "p.(=)" "" "0000910921" "00006205" "10" "3022" "0" "3022" "0" "c.*1651T>A" "r.(=)" "p.(=)" "" "0000923063" "00006205" "10" "5196" "0" "5196" "0" "c.*3825A>G" "r.(=)" "p.(=)" "" "0000973600" "00006205" "10" "3303" "0" "3303" "0" "c.*1932C>T" "r.(=)" "p.(=)" "" "0000973601" "00006205" "50" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Val255Ile)" "" "0000973602" "00006205" "30" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Val187Ile)" "" "0000973603" "00006205" "50" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Ile120Thr)" "" "0001031624" "00006205" "50" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Thr400Ile)" "" "0001031625" "00006205" "50" "803" "0" "803" "0" "c.803T>C" "r.(?)" "p.(Phe268Ser)" "" "0001031626" "00006205" "50" "480" "0" "480" "0" "c.480C>G" "r.(?)" "p.(His160Gln)" "" "0001031627" "00006205" "50" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Arg65Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000050579" "0000079559" "0000107123" "0000172878" "0000107123" "0000172879" "0000290844" "0000647533" "0000290846" "0000647535" "0000290848" "0000647537"