### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDSS1) # 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}}" "PDSS1" "prenyl (decaprenyl) diphosphate synthase, subunit 1" "10" "p12.2" "unknown" "NG_008972.2" "UD_132118944901" "" "https://www.LOVD.nl/PDSS1" "" "1" "17759" "23590" "607429" "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/PDSS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-23 16:32:17" "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}}" "00015935" "PDSS1" "prenyl (decaprenyl) diphosphate synthase, subunit 1" "001" "NM_014317.3" "" "NP_055132.2" "" "" "" "-46" "1573" "1248" "26986595" "27035727" "" "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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03693" "COQ10D2" "coenzyme Q10 deficiency, primary, type 2 (COQ10D-2)" "AR" "614651" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04199" "COQ10D" "coenzyme Q10 deficiency (COQ10D)" "" "" "" "" "" "00006" "2015-02-19 22:33:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PDSS1" "03693" "PDSS1" "04199" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00036493" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036494" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036495" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00290031" "" "" "" "48" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00424939" "" "" "" "1" "" "00006" "{PMID:Jurkute 2022:36266294}" "2-generation family, 1 affected, unaffected heterozygous carrier relatives" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1" "00424940" "" "" "" "1" "" "00006" "{PMID:Jurkute 2022:36266294}" "2-generation family, 1 affected, unaffected parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2" "00424941" "" "" "" "1" "" "00006" "{PMID:Jurkute 2022:36266294}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam3" "00424943" "" "" "" "1" "" "00006" "{PMID:Jurkute 2022:36266294}" "2-generation family, 1 affected, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam4" "00424947" "" "" "" "1" "" "00006" "{PMID:Jurkute 2022:36266294}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam5" "00424948" "" "" "" "1" "" "00006" "{PMID:Jurkute 2022:36266294}," "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00036494" "00198" "00036495" "00198" "00290031" "00198" "00424939" "00112" "00424940" "00112" "00424941" "00112" "00424943" "00112" "00424947" "00112" "00424948" "00112" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 03693, 04199 ## Count = 8 "{{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}}" "0000156557" "00198" "00036494" "01164" "Unknown" "" "suspected mitochondrial disease, severe therapy-refractory epilepsy, severe hypotonia,mental retardation" "" "" "" "" "" "" "" "" "" "mitochondrial disease?" "" "0000156558" "00198" "00036495" "01164" "Unknown" "" "suspected mitochondrial disease, severe therapy-refractory epilepsy, severe hypotonia,mental retardation" "" "" "" "" "" "" "" "" "" "mitochondrial disease?" "" "0000316138" "00112" "00424939" "00006" "Familial, autosomal recessive" "79y" "hearing impairment, 48y-vision problems; 60y-nyctalopia; retinitis pigmentosa myopia, history left eye cystoid macular oedema, 55y-epiretinal membrane peeling; 8y-hearing impairmen, minor pericardial effusion (asymptomatic)" "08y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000316139" "00112" "00424940" "00006" "Familial, autosomal recessive" "30y" "decreased night vision, followed by peripheral visual field loss; retinitis pigmentosa, myopic astigmatism, left eye cystoid macular oedema; hearing impairment" "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000316140" "00112" "00424941" "00006" "Familial, autosomal recessive" "55y" "30y-incidental finding during routine check-up, asymptomatic; 43y-lamellar hole, 52y- bilateral cataracts; mild hearing impairment (formally not investigated)" "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000316142" "00112" "00424943" "00006" "Familial, autosomal recessive" "" "2y-hearing impairment, followed by vision problems; retinal dystrophy; 11y-unspecified chest pain, 15y-epistaxis, 17y-cardiac arrhythmia – bradycardia, 17y-syncope" "02y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000316146" "00112" "00424947" "00006" "Familial, autosomal recessive" "63y" "peripheral visual field loss; retinitis pigmentosa, myopic astigmatism, cataracts; hypertension, myocardial infarction" "28y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000316147" "00112" "00424948" "00006" "Familial, autosomal recessive" "54y" "night blindness since childhood, 37y-glare sensitivity; retinitis pigmentosa, myopic astigmatism, right eye cataract ; premature birth, weight 1500 g, hemiplegia after birth disappeared within an hour; osteomalacia; 52y-myocardial infarction" "37y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036563" "00036493" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036564" "00036494" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036565" "00036495" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000291199" "00290031" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000426257" "00424939" "1" "00006" "00006" "2022-11-23 16:40:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000426258" "00424940" "1" "00006" "00006" "2022-11-23 16:47:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000426259" "00424941" "1" "00006" "00006" "2022-11-23 16:54:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000426261" "00424943" "1" "00006" "00006" "2022-11-23 20:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000426265" "00424947" "1" "00006" "00006" "2022-11-23 21:30:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000426266" "00424948" "1" "00006" "00006" "2022-11-23 21:41:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000036563" "PDSS1" "0000036564" "PDSS1" "0000036565" "PDSS1" ## 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 = 53 "{{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}}" "0000063688" "1" "50" "10" "26998637" "26998637" "subst" "0.0117483" "01164" "PDSS1_000002" "g.26998637T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.26709708T>G" "" "VUS" "" "0000063689" "1" "10" "10" "26991182" "26991182" "subst" "0" "01164" "PDSS1_000001" "g.26991182A>T" "" "" "" "" "" "Germline" "" "rs117919256" "0" "" "" "g.26702253A>T" "" "benign" "" "0000063690" "1" "50" "10" "26986814" "26986814" "subst" "0" "01164" "PDSS1_000003" "g.26986814C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.26697885C>G" "" "VUS" "" "0000251471" "0" "10" "10" "26991136" "26991136" "subst" "0.0123547" "02326" "PDSS1_000007" "g.26991136A>G" "" "" "" "PDSS1(NM_014317.5):c.162+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26702207A>G" "" "benign" "" "0000251472" "0" "10" "10" "26998501" "26998501" "del" "0" "02326" "PDSS1_000010" "g.26998501del" "" "" "" "PDSS1(NM_014317.5):c.337-66delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26709572del" "" "benign" "" "0000251473" "0" "10" "10" "27012682" "27012682" "subst" "0" "02326" "PDSS1_000012" "g.27012682A>G" "" "" "" "PDSS1(NM_014317.5):c.610-53A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26723753A>G" "" "benign" "" "0000254071" "0" "30" "10" "27009268" "27009268" "subst" "0.00144249" "01943" "PDSS1_000011" "g.27009268A>G" "" "" "" "PDSS1(NM_014317.4):c.589A>G (p.K197E), PDSS1(NM_014317.5):c.589A>G (p.K197E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26720339A>G" "" "likely benign" "" "0000293644" "0" "10" "10" "26993601" "26993601" "del" "0" "02330" "PDSS1_000008" "g.26993601del" "" "" "" "PDSS1(NM_014317.5):c.163-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26704672del" "" "benign" "" "0000293645" "0" "30" "10" "26986729" "26986729" "subst" "0.00243628" "02330" "PDSS1_000004" "g.26986729G>T" "" "" "" "PDSS1(NM_014317.5):c.89G>T (p.G30V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26697800G>T" "" "likely benign" "" "0000296884" "0" "10" "10" "26993601" "26993601" "del" "0" "02325" "PDSS1_000009" "g.26993601del" "" "" "" "PDSS1(NM_014317.5):c.163-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26704672del" "" "benign" "" "0000300709" "0" "10" "10" "27031548" "27031548" "subst" "0.00534588" "02326" "PDSS1_000015" "g.27031548C>T" "" "" "" "PDSS1(NM_014317.5):c.1107+42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26742619C>T" "" "benign" "" "0000300710" "0" "10" "10" "26986729" "26986729" "subst" "0.00243628" "02326" "PDSS1_000004" "g.26986729G>T" "" "" "" "PDSS1(NM_014317.5):c.89G>T (p.G30V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26697800G>T" "" "benign" "" "0000305419" "0" "30" "10" "26986746" "26986746" "subst" "0" "01943" "PDSS1_000005" "g.26986746G>A" "" "" "" "PDSS1(NM_014317.4):c.106G>A (p.A36T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26697817G>A" "" "likely benign" "" "0000305420" "0" "30" "10" "26986764" "26986764" "subst" "0" "01943" "PDSS1_000006" "g.26986764G>A" "" "" "" "PDSS1(NM_014317.4):c.124G>A (p.A42T), PDSS1(NM_014317.5):c.124G>A (p.A42T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26697835G>A" "" "likely benign" "" "0000305421" "0" "50" "10" "27031454" "27031454" "subst" "0.000301797" "01943" "PDSS1_000014" "g.27031454G>A" "" "" "" "PDSS1(NM_001321979.1):c.545G>A (p.R182Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26742525G>A" "" "VUS" "" "0000321458" "0" "50" "10" "27031416" "27031420" "del" "0" "01804" "PDSS1_000013" "g.27031416_27031420del" "" "" "" "PDSS1(NM_014317.3):c.1027-12_1027-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26742487_26742491del" "" "VUS" "" "0000321459" "0" "50" "10" "27035277" "27035278" "del" "0" "01804" "PDSS1_000017" "g.27035277_27035278del" "" "" "" "PDSS1(NM_014317.3):c.1122_1123del (p.(Gln375AsnfsTer11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26746348_26746349del" "" "VUS" "" "0000321460" "0" "50" "10" "27035292" "27035292" "subst" "3.25354E-5" "01804" "PDSS1_000018" "g.27035292G>A" "" "" "" "PDSS1(NM_014317.3):c.1138G>A (p.(Ala380Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26746363G>A" "" "VUS" "" "0000321461" "0" "50" "10" "27037612" "27037612" "subst" "8.15248E-6" "01804" "ABI1_000001" "g.27037612T>C" "" "" "" "ABI1(NM_001012750.2):c.1333A>G (p.(Ile445Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26748683T>C" "" "VUS" "" "0000539783" "0" "30" "10" "26986676" "26986676" "subst" "0" "01943" "ABI1_000002" "g.26986676C>T" "" "" "" "PDSS1(NM_014317.4):c.36C>T (p.C12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26697747C>T" "" "likely benign" "" "0000539784" "0" "50" "10" "27012981" "27012981" "subst" "0.000138159" "01943" "ABI1_000003" "g.27012981G>C" "" "" "" "PDSS1(NM_001321979.1):c.250G>C (p.E84Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26724052G>C" "" "VUS" "" "0000539785" "0" "10" "10" "27035253" "27035256" "dup" "0" "02330" "ABI1_000004" "g.27035253_27035256dup" "" "" "" "PDSS1(NM_014317.5):c.1108-10_1108-7dupTATC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26746324_26746327dup" "" "benign" "" "0000612444" "0" "50" "10" "27012811" "27012811" "subst" "0.000638066" "01943" "ABI1_000005" "g.27012811C>G" "" "" "" "PDSS1(NM_001321979.1):c.176C>G (p.S59C), PDSS1(NM_014317.5):c.686C>G (p.(Ser229Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26723882C>G" "" "VUS" "" "0000647888" "1" "50" "10" "26998637" "26998637" "subst" "0.0117483" "03575" "PDSS1_000002" "g.26998637T>G" "48/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 48 heterozygous, no homozygous; {DB:CLININrs77826284}" "Germline" "" "rs77826284" "0" "" "" "g.26709708T>G" "" "VUS" "" "0000690709" "0" "30" "10" "26991081" "26991081" "subst" "0.000747669" "01943" "ABI1_000009" "g.26991081G>T" "" "" "" "PDSS1(NM_001321979.1):c.-464-10G>T, PDSS1(NM_014317.5):c.130-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690710" "0" "30" "10" "27035259" "27035259" "subst" "0.000850984" "02326" "ABI1_000010" "g.27035259T>C" "" "" "" "PDSS1(NM_001321979.1):c.598-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722791" "0" "30" "10" "27009268" "27009268" "subst" "0.00144249" "02330" "PDSS1_000011" "g.27009268A>G" "" "" "" "PDSS1(NM_014317.4):c.589A>G (p.K197E), PDSS1(NM_014317.5):c.589A>G (p.K197E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722792" "0" "50" "10" "27024423" "27024423" "subst" "4.06458E-6" "02325" "ABI1_000011" "g.27024423C>T" "" "" "" "PDSS1(NM_014317.5):c.941C>T (p.S314L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889114" "0" "30" "10" "26986764" "26986764" "subst" "0" "02326" "PDSS1_000006" "g.26986764G>A" "" "" "" "PDSS1(NM_014317.4):c.124G>A (p.A42T), PDSS1(NM_014317.5):c.124G>A (p.A42T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000903215" "1" "70" "10" "26998598" "26998598" "subst" "0" "00006" "PDSS1_000019" "g.26998598A>G" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PM2, PM3, BP1" "Germline" "" "" "0" "" "" "g.26709669A>G" "" "VUS" "ACMG" "0000903216" "2" "90" "10" "26986658" "26986658" "subst" "0" "00006" "PDSS1_000020" "g.26986658G>A" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.26697729G>A" "" "pathogenic (recessive)" "ACMG" "0000903217" "1" "70" "10" "27024223" "27024223" "subst" "8.12401E-6" "00006" "PDSS1_000021" "g.27024223G>A" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PM2, PP3, BP1" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000903218" "2" "70" "10" "26994219" "26994219" "subst" "0" "00006" "PDSS1_000022" "g.26994219C>A" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000903219" "21" "90" "10" "27012941" "27012941" "subst" "4.06319E-6" "00006" "PDSS1_000023" "g.27012941A>G" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.26724012A>G" "" "pathogenic (recessive)" "ACMG" "0000903220" "11" "70" "10" "27009268" "27009268" "subst" "0.00144249" "00006" "PDSS1_000011" "g.27009268A>G" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PS4, PM2, PM3, BP1, BP4" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000903222" "3" "70" "10" "27035272" "27035274" "dup" "0" "00006" "PDSS1_000024" "g.27035272_27035274dup" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.26746343_26746345dup" "" "VUS" "ACMG" "0000903229" "1" "70" "10" "27009268" "27009268" "subst" "0.00144249" "00006" "PDSS1_000011" "g.27009268A>G" "" "{PMID:Jurkute 2022:36266294}," "" "" "ACMG PS4, PM2, BP1, BP4" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000903230" "2" "70" "10" "27009122" "27009122" "subst" "1.2196E-5" "00006" "PDSS1_000025" "g.27009122A>G" "" "{PMID:Jurkute 2022:36266294}," "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000903231" "21" "70" "10" "27009268" "27009268" "subst" "0.00144249" "00006" "PDSS1_000011" "g.27009268A>G" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PS4, PM2, PM3, BP1, BP4" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000903232" "10" "90" "10" "27024230" "27024230" "dup" "0" "00006" "PDSS1_000026" "g.27024230dup" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.26735301dup" "" "pathogenic (recessive)" "" "0000913268" "0" "30" "10" "26991081" "26991081" "subst" "0.000747669" "02326" "ABI1_000009" "g.26991081G>T" "" "" "" "PDSS1(NM_001321979.1):c.-464-10G>T, PDSS1(NM_014317.5):c.130-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913269" "0" "30" "10" "27009268" "27009268" "subst" "0.00144249" "02326" "PDSS1_000011" "g.27009268A>G" "" "" "" "PDSS1(NM_014317.4):c.589A>G (p.K197E), PDSS1(NM_014317.5):c.589A>G (p.K197E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913270" "0" "30" "10" "27024265" "27024267" "del" "0" "02326" "ABI1_000012" "g.27024265_27024267del" "" "" "" "PDSS1(NM_014317.5):c.912+16_912+18delATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913271" "0" "30" "10" "27031530" "27031530" "dup" "0" "02326" "ABI1_000013" "g.27031530dup" "" "" "" "PDSS1(NM_014317.5):c.1107+24dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965699" "0" "30" "10" "26998656" "26998656" "subst" "0.000958453" "02326" "ABI1_000014" "g.26998656G>A" "" "" "" "PDSS1(NM_014317.5):c.426G>A (p.A142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978999" "0" "30" "10" "27013060" "27013060" "subst" "0" "01804" "ABI1_000015" "g.27013060C>T" "" "" "" "PDSS1(NM_014317.5):c.831+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979000" "0" "50" "10" "27024223" "27024223" "subst" "8.12401E-6" "01804" "PDSS1_000021" "g.27024223G>A" "" "" "" "PDSS1(NM_014317.5):c.886G>A (p.(Gly296Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014612" "0" "30" "10" "27035405" "27035405" "subst" "0.000889832" "02330" "ABI1_000016" "g.27035405A>G" "" "" "" "PDSS1(NM_001321979.2):c.*3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037863" "0" "50" "10" "27009167" "27009167" "subst" "1.62479E-5" "01804" "ABI1_000017" "g.27009167G>A" "" "" "" "PDSS1(NM_014317.5):c.488G>A (p.(Arg163His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037864" "0" "30" "10" "27009219" "27009219" "subst" "0.000527979" "02326" "ABI1_000018" "g.27009219T>C" "" "" "" "PDSS1(NM_014317.5):c.540T>C (p.D180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037865" "0" "50" "10" "27012811" "27012811" "subst" "0.000638066" "01804" "ABI1_000005" "g.27012811C>G" "" "" "" "PDSS1(NM_001321979.1):c.176C>G (p.S59C), PDSS1(NM_014317.5):c.686C>G (p.(Ser229Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037866" "0" "50" "10" "27012850" "27012850" "subst" "1.21915E-5" "01804" "ABI1_000019" "g.27012850C>T" "" "" "" "PDSS1(NM_014317.5):c.721+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037867" "0" "30" "10" "27031420" "27031420" "subst" "0" "01804" "ABI1_000020" "g.27031420T>G" "" "" "" "PDSS1(NM_014317.5):c.1027-6T>G" "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 PDSS1 ## Count = 53 "{{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}}" "0000063688" "00015935" "50" "407" "0" "407" "0" "c.407T>G" "r.(?)" "p.(Phe136Cys)" "" "0000063689" "00015935" "10" "162" "59" "162" "59" "c.162+59A>T" "r.(=)" "p.(=)" "" "0000063690" "00015935" "50" "129" "45" "129" "45" "c.129+45C>G" "r.(=)" "p.(=)" "" "0000251471" "00015935" "10" "162" "13" "162" "13" "c.162+13A>G" "r.(=)" "p.(=)" "" "0000251472" "00015935" "10" "337" "-66" "337" "-66" "c.337-66del" "r.(=)" "p.(=)" "" "0000251473" "00015935" "10" "610" "-53" "610" "-53" "c.610-53A>G" "r.(=)" "p.(=)" "" "0000254071" "00015935" "30" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "" "0000293644" "00015935" "10" "163" "-5" "163" "-5" "c.163-5del" "r.spl?" "p.?" "" "0000293645" "00015935" "30" "89" "0" "89" "0" "c.89G>T" "r.(?)" "p.(Gly30Val)" "" "0000296884" "00015935" "10" "163" "-5" "163" "-5" "c.163-5del" "r.spl?" "p.?" "" "0000300709" "00015935" "10" "1107" "42" "1107" "42" "c.1107+42C>T" "r.(=)" "p.(=)" "" "0000300710" "00015935" "10" "89" "0" "89" "0" "c.89G>T" "r.(?)" "p.(Gly30Val)" "" "0000305419" "00015935" "30" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Ala36Thr)" "" "0000305420" "00015935" "30" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Ala42Thr)" "" "0000305421" "00015935" "50" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352Gln)" "" "0000321458" "00015935" "50" "1027" "-10" "1027" "-6" "c.1027-10_1027-6del" "r.(=)" "p.(=)" "" "0000321459" "00015935" "50" "1123" "0" "1124" "0" "c.1123_1124del" "r.(?)" "p.(Gln375AsnfsTer11)" "" "0000321460" "00015935" "50" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Ala380Thr)" "" "0000321461" "00015935" "50" "3458" "0" "3458" "0" "c.*2210T>C" "r.(=)" "p.(=)" "" "0000539783" "00015935" "30" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Cys12=)" "" "0000539784" "00015935" "50" "760" "0" "760" "0" "c.760G>C" "r.(?)" "p.(Glu254Gln)" "" "0000539785" "00015935" "10" "1108" "-9" "1108" "-6" "c.1108-9_1108-6dup" "r.(=)" "p.(=)" "" "0000612444" "00015935" "50" "686" "0" "686" "0" "c.686C>G" "r.(?)" "p.(Ser229Cys)" "" "0000647888" "00015935" "50" "407" "0" "407" "0" "c.407T>G" "r.(?)" "p.(Phe136Cys)" "" "0000690709" "00015935" "30" "130" "-10" "130" "-10" "c.130-10G>T" "r.(=)" "p.(=)" "" "0000690710" "00015935" "30" "1108" "-3" "1108" "-3" "c.1108-3T>C" "r.spl?" "p.?" "" "0000722791" "00015935" "30" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "" "0000722792" "00015935" "50" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000889114" "00015935" "30" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Ala42Thr)" "" "0000903215" "00015935" "70" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(Glu123Gly)" "" "0000903216" "00015935" "90" "18" "0" "18" "0" "c.18G>A" "r.(?)" "p.(Trp6*)" "" "0000903217" "00015935" "70" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Gly296Arg)" "" "0000903218" "00015935" "70" "232" "0" "232" "0" "c.232C>A" "r.(?)" "p.(His78Asn)" "" "0000903219" "00015935" "90" "722" "-2" "722" "-2" "c.722-2A>G" "r.[610_831del,722_735del]" "p.[Ala204_Ala277del,Gly241Alafs*6]" "7i" "0000903220" "00015935" "70" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "" "0000903222" "00015935" "70" "1118" "0" "1120" "0" "c.1118_1120dup" "r.(?)" "p.(Val373_Gln374insLeu)" "" "0000903229" "00015935" "70" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "" "0000903230" "00015935" "70" "468" "-25" "468" "-25" "c.468-25A>G" "r.467_468ins[468-83_468-26;g;468-24_468-1]" "p.(=)" "5i" "0000903231" "00015935" "70" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "" "0000903232" "00015935" "90" "893" "0" "893" "0" "c.893dup" "r.(?)" "p.(Asn298Lysfs*11)" "" "0000913268" "00015935" "30" "130" "-10" "130" "-10" "c.130-10G>T" "r.(=)" "p.(=)" "" "0000913269" "00015935" "30" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "" "0000913270" "00015935" "30" "912" "16" "912" "18" "c.912+16_912+18del" "r.(=)" "p.(=)" "" "0000913271" "00015935" "30" "1107" "24" "1107" "24" "c.1107+24dup" "r.(=)" "p.(=)" "" "0000965699" "00015935" "30" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(=)" "" "0000978999" "00015935" "30" "831" "8" "831" "8" "c.831+8C>T" "r.(=)" "p.(=)" "" "0000979000" "00015935" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Gly296Arg)" "" "0001014612" "00015935" "30" "1251" "0" "1251" "0" "c.*3A>G" "r.(=)" "p.(=)" "" "0001037863" "00015935" "50" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163His)" "" "0001037864" "00015935" "30" "540" "0" "540" "0" "c.540T>C" "r.(?)" "p.(=)" "" "0001037865" "00015935" "50" "686" "0" "686" "0" "c.686C>G" "r.(?)" "p.(Ser229Cys)" "" "0001037866" "00015935" "50" "721" "4" "721" "4" "c.721+4C>T" "r.spl?" "p.?" "" "0001037867" "00015935" "30" "1027" "-6" "1027" "-6" "c.1027-6T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000036563" "0000063688" "0000036564" "0000063689" "0000036565" "0000063690" "0000291199" "0000647888" "0000426257" "0000903215" "0000426257" "0000903216" "0000426258" "0000903217" "0000426258" "0000903218" "0000426259" "0000903219" "0000426259" "0000903220" "0000426261" "0000903222" "0000426265" "0000903229" "0000426265" "0000903230" "0000426266" "0000903231" "0000426266" "0000903232"