### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PET100) # 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}}" "PET100" "PET100 homolog (S. cerevisiae)" "19" "p13.2" "unknown" "NG_034117.1" "UD_136090054584" "" "https://www.LOVD.nl/PET100" "" "1" "40038" "100131801" "614770" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PET100_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-09-29 23:06:13" "00000" "2024-02-26 20:06:56" ## 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}}" "00015979" "PET100" "transcript variant 1" "002" "NM_001171155.1" "" "NP_001164626.1" "" "" "" "-49" "290" "222" "7694671" "7696510" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2025-01-31 09:48:07" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01740" "MC4DN" "mitochondrial complex IV deficiency (MCDN4)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-07-23 10:38:44" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PET100" "01740" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00204778" "" "" "" "1" "" "02580" "{PMID:Lim 2014: 24462369}" "2 generation family, consanguineous parents, 1 affected" "M" "yes" "Australia" "00y08m" "0" "" "" "Lebanese" "24462369-A1" "00205226" "" "" "" "1" "" "02580" "{PMID:Lim 2014:24462369}" "2 generation family, consanguineous parents, 1 affected (first 4 children in the\r\nfamily died within the first year of life without clear diagnoses but all had developmental delay and seizures.)" "M" "yes" "Australia" "00y08m" "0" "" "" "Lebanese" "24462369-B1" "00207012" "" "" "" "1" "" "02580" "{PMID:Lim 2014:24462369}" "2 generation family, non-consanguineous parents, 1 affected" "F" "no" "Australia" ">15y06m" "0" "" "" "Lebanese" "24462369-C1" "00207013" "" "" "" "2" "" "02580" "{PMID:Lim 2014:24462369}" "2 generation family, consanguineous parents, 2 affected siblings" "M" "yes" "Australia" ">24y" "0" "" "" "Lebanese" "24462369-D1" "00207014" "" "" "00207013" "1" "" "02580" "{PMID:Lim 2014:24462369}" "2 generation family, consanguineous parents, 2 affected siblings" "M" "yes" "Australia" "00y07m" "0" "" "" "Lebanese" "24462369-D2" "00207418" "" "" "" "2" "" "02580" "{PMID:Lim 2014:24462369}" "2 generation family, non-consanguineous parents, 2 affected siblings" "M" "no" "Australia" "16y" "0" "" "" "Lebanese" "24462369-E1" "00207419" "" "" "00207418" "1" "" "02580" "{PMID:Lim 2014:24462369}" "2 generation family, non-consanguineous, 2 affected siblings" "M" "no" "Australia" ">27y" "0" "" "" "Lebanese" "24462369-E2" "00207420" "" "" "" "1" "" "02580" "{PMID:Lim 2014:24462369}" "2 generation family, consanguineous parents" "M" "yes" "Australia" ">09y08m" "0" "" "" "Lebanese" "24462369-F1" "00207421" "" "" "" "1" "" "02580" "{PMID:Lim 2014:24462369}" "2 generation family, consanguineous parents" "F" "yes" "Australia" "00y12m" "0" "" "" "Lebanese" "24462369-G1" "00207422" "" "" "" "1" "" "02580" "{PMID:Lim 2014:24462369}" "2 generation family, consanguineous parents, 1 affected child, 3 unaffected chlidren" "M" "yes" "Australia" "03y06m" "0" "" "" "Lebanese" "24462369-H1" "00207423" "" "" "" "1" "" "02580" "{PMID:Oláhová 2015:25293719}" "2 generation family, consanguineous parents, 1 affected child" "F" "yes" "United Kingdom (Great Britain)" "00y00m02d" "0" "" "" "Pakistani" "25293719-73387" "00292209" "" "" "" "3" "" "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 = 22 "{{individualid}}" "{{diseaseid}}" "00204778" "00038" "00204778" "01740" "00205226" "00038" "00205226" "01740" "00207012" "00038" "00207012" "01740" "00207013" "00038" "00207013" "01740" "00207014" "00038" "00207014" "01740" "00207418" "00038" "00207418" "01740" "00207419" "00038" "00207419" "01740" "00207420" "00038" "00207420" "01740" "00207421" "00038" "00207421" "01740" "00207422" "00038" "00207422" "01740" "00207423" "01740" "00292209" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00038, 00198, 01740 ## Count = 21 "{{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}}" "0000153417" "00038" "00205226" "02580" "Familial, autosomal recessive" "" "Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), elevated blood and CSF lactate levels (HP:0003128)" "00y01m15d?" "" "" "" "" "" "" "" "" "" "" "0000153418" "01740" "00205226" "02580" "Familial, autosomal recessive" "" "Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts)" "00y00m45d?" "" "" "" "" "" "" "" "" "" "" "0000153419" "00038" "00204778" "02580" "Familial, autosomal recessive" "" "Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), increased blood and CSF lactate levels (HP:0003128)" "00y04m" "" "" "" "" "" "" "" "" "" "" "0000153420" "01740" "00204778" "02580" "Familial, autosomal recessive" "" "Decreased activity of mitochondrial complex IV (HP:0008347) (muscle, fibroblasts, liver)" "" "" "" "" "" "" "" "" "" "" "" "0000154805" "00038" "00207012" "02580" "Familial, autosomal recessive" "" "Elevated serum\r\nand CSF lactate levels (HP:0003128), \r\nelevated CSF and serum pyruvate (HP:0003542) levels" "00y03m" "" "" "" "" "" "" "" "" "" "" "0000154806" "01740" "00207012" "02580" "Familial, autosomal recessive" "" "Decreased activity of mitochondrial complex IV (HP:0008347) (muscle, fibroblasts)" "" "" "" "" "" "" "" "" "" "" "" "0000154807" "00038" "00207013" "02580" "Familial, autosomal recessive" "" "Elevated plasma and CSF lactate levels (HP:0003128), profound mental retardation (HP:0002187), seizures (HP:0001250)" "00y06m" "" "" "" "" "" "" "" "" "" "" "0000154808" "01740" "00207013" "02580" "Familial, autosomal recessive" "" "Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts)" "" "" "" "" "" "" "" "" "" "" "" "0000154809" "00038" "00207014" "02580" "Familial, autosomal recessive" "" "seizures (HP:0001250), delayed motor milestones (HP:0001270), increased CSF lactate (HP:0002490)" "00y04m" "" "" "" "" "" "" "" "" "" "" "0000154810" "01740" "00207014" "02580" "Familial, autosomal recessive" "" "Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts)" "" "" "" "" "" "" "" "" "" "" "" "0000155191" "00038" "00207418" "02580" "Familial, autosomal recessive" "" "Leigh-like, profound global developmental delay(HP:0001263), hypotonia and seizures (HP:0001250)" "00y04m" "" "" "" "" "" "" "" "" "" "" "0000155192" "01740" "00207418" "02580" "Familial, autosomal recessive" "" "Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts)" "" "" "" "" "" "" "" "" "" "" "" "0000155193" "00038" "00207419" "02580" "Familial, autosomal recessive" "" "seizures (HP:0001250), developmental delay, hypotonia, failure to thrive (HP:0001508), increased blood lactate (HP:0002151)" "00y09m" "" "" "" "" "" "" "" "" "" "" "0000155195" "01740" "00207419" "02580" "Familial, autosomal recessive" "" "Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts)" "" "" "" "" "" "" "" "" "" "" "" "0000155196" "00038" "00207420" "02580" "Familial, autosomal recessive" "" "Lactic acidosis in blood and CSF (HP:0003128), hypotonic, seizures commenced before 8mo, severe hearing deficit and visual impairment" "00y06m" "" "" "" "" "" "" "" "" "" "" "0000155197" "01740" "00207420" "02580" "Familial, autosomal recessive" "" "Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts)" "00y06m" "" "" "" "" "" "" "" "" "" "" "0000155198" "00038" "00207421" "02580" "Familial, autosomal recessive" "" "Leigh-like, developmental delay, hypotonia, seizures, elevated lactic acid and alanine levels in the urine" "00y04m" "" "" "" "" "" "" "" "" "" "" "0000155199" "01740" "00207421" "02580" "Familial, autosomal recessive" "" "Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts, liver)" "" "" "" "" "" "" "" "" "" "" "" "0000155200" "00038" "00207422" "02580" "Familial, autosomal recessive" "00y04m" "blood and CSF lactate levels, and blood pyruvate level were elevated. Cranial\r\nMRI showed high-intensity signals in the putamen. Poor neurological development with myoclonic spasms, cortical blindness, and feeding difficulties." "" "" "" "" "" "" "" "" "" "" "" "0000155201" "01740" "00207422" "02580" "Familial, autosomal recessive" "" "Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts, muscle and liver)" "" "" "" "" "" "" "" "" "" "" "" "0000155202" "01740" "00207423" "02580" "Familial, autosomal recessive" "" "Severe lactic acidosis(HP:0003128), Cranial ultrasound showed bilateral intraventricular cysts within the frontal horns and anterior portions of the lateral ventricles. Severely impaired liver function." "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000205807" "00204778" "1" "02580" "02580" "2018-11-09 15:51:10" "" "" "arraySNP;SEQ-NG-I" "DNA" "" "" "0000206255" "00205226" "1" "02580" "02580" "2018-11-11 02:25:12" "" "" "arraySNP;SEQ-NG-I" "DNA" "" "" "0000208047" "00207012" "1" "02580" "02580" "2018-11-18 08:14:18" "" "" "arraySNP;SEQ-NG-I" "DNA" "" "" "0000208048" "00207013" "1" "02580" "02580" "2018-11-18 08:47:07" "" "" "arraySNP;SEQ-NG-I" "DNA" "" "" "0000208049" "00207014" "1" "02580" "02580" "2018-11-18 09:25:41" "" "" "PCRdig" "DNA" "" "" "0000208455" "00207418" "1" "02580" "02580" "2018-11-22 07:28:02" "" "" "PCRdig" "DNA" "" "" "0000208456" "00207419" "1" "02580" "02580" "2018-11-22 07:41:29" "" "" "arraySNP;SEQ-NG-I" "DNA" "" "" "0000208457" "00207420" "1" "02580" "02580" "2018-11-22 07:58:03" "" "" "arraySNP;SEQ-NG-I" "DNA" "" "" "0000208458" "00207421" "1" "02580" "02580" "2018-11-22 08:15:49" "" "" "MS" "DNA" "" "" "0000208459" "00207422" "1" "02580" "02580" "2018-11-22 08:28:03" "" "" "MS" "DNA" "" "" "0000208460" "00207423" "1" "02580" "02580" "2018-11-22 08:47:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000293377" "00292209" "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 = 2 "{{screeningid}}" "{{geneid}}" "0000208458" "PET100" "0000208459" "PET100" ## 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 = 35 "{{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}}" "0000314217" "0" "30" "19" "7704711" "7704711" "subst" "0.00138828" "02326" "STXBP2_000004" "g.7704711C>T" "" "" "" "STXBP2(NM_001272034.2):c.246+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7639825C>T" "" "likely benign" "" "0000314218" "0" "10" "19" "7705027" "7705028" "del" "0" "02326" "STXBP2_000006" "g.7705027_7705028del" "" "" "" "STXBP2(NM_001272034.2):c.246+334_246+335delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7640141_7640142del" "" "benign" "" "0000314219" "0" "10" "19" "7704754" "7704755" "del" "0" "02326" "STXBP2_000005" "g.7704754_7704755del" "" "" "" "STXBP2(NM_001272034.2):c.246+61_246+62delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7639868_7639869del" "" "benign" "" "0000314220" "0" "10" "19" "7705307" "7705307" "subst" "0" "02326" "STXBP2_000008" "g.7705307C>T" "" "" "" "STXBP2(NM_001272034.2):c.247-277C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7640421C>T" "" "benign" "" "0000314222" "0" "30" "19" "7705682" "7705682" "subst" "0.0001137" "02326" "STXBP2_000009" "g.7705682C>T" "" "" "" "STXBP2(NM_001272034.2):c.345C>T (p.I115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7640796C>T" "" "likely benign" "" "0000314223" "0" "30" "19" "7705714" "7705714" "subst" "0" "02326" "STXBP2_000010" "g.7705714G>C" "" "" "" "STXBP2(NM_001272034.2):c.358+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7640828G>C" "" "likely benign" "" "0000314224" "0" "10" "19" "7703605" "7703605" "subst" "0.399661" "02326" "STXBP2_000003" "g.7703605C>T" "" "" "" "STXBP2(NM_006949.2):c.38-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7638719C>T" "" "benign" "" "0000315906" "0" "30" "19" "7702050" "7702050" "subst" "0" "01943" "STXBP2_000002" "g.7702050G>A" "" "" "" "STXBP2(NM_001272034.1):c.15G>A (p.G5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7637164G>A" "" "likely benign" "" "0000435217" "3" "99" "19" "7694722" "7694722" "subst" "7.45479E-6" "02580" "PET100_000001" "g.7694722G>C" "" "{PMID:Lim 2014:24462369}" "MboI+" "-" "" "Germline" "yes" "rs587777839" "0" "" "" "g.7629836G>C" "{CV:125441}" "pathogenic" "" "0000435687" "3" "99" "19" "7694722" "7694722" "subst" "7.45479E-6" "02580" "PET100_000001" "g.7694722G>C" "" "{PMID:Lim 2014:24462369}" "MboI+" "" "" "Germline" "yes" "rs587777839" "0" "" "" "g.7629836G>C" "{CV:125441}" "pathogenic" "" "0000437843" "3" "99" "19" "7694722" "7694722" "subst" "7.45479E-6" "02580" "PET100_000001" "g.7694722G>C" "" "{PMID:Lim 2014:24462369}" "MboI+" "" "" "Germline" "" "rs587777839" "0" "" "" "g.7629836G>C" "{CV:125441}" "pathogenic" "" "0000437844" "3" "99" "19" "7694722" "7694722" "subst" "7.45479E-6" "02580" "PET100_000001" "g.7694722G>C" "" "{PMID:Lim 2014:24462369}" "MboI+" "" "" "Germline" "yes" "rs587777839" "0" "" "" "g.7629836G>C" "{CV:125441}" "pathogenic" "" "0000437845" "3" "99" "19" "7694722" "7694722" "subst" "7.45479E-6" "02580" "PET100_000001" "g.7694722G>C" "" "{PMID:Lim 2014:24462369}" "MboI+" "" "" "Germline" "yes" "rs587777839" "0" "" "" "g.7629836G>C" "{CV:125441}" "pathogenic" "" "0000438318" "3" "99" "19" "7694722" "7694722" "subst" "7.45479E-6" "02580" "PET100_000001" "g.7694722G>C" "" "{PMID:Lim 2014: 24462369}" "MboI+" "" "" "Germline" "yes" "rs587777839" "0" "" "" "g.7629836G>C" "{CV:125441}" "pathogenic" "" "0000438319" "0" "99" "19" "7694722" "7694722" "subst" "7.45479E-6" "02580" "PET100_000001" "g.7694722G>C" "" "{PMID:Lim 2014: 24462369}" "MboI+" "" "" "Germline" "yes" "rs587777839" "0" "" "" "g.7629836G>C" "{CV:125441}" "pathogenic" "" "0000438320" "3" "99" "19" "7694722" "7694722" "subst" "7.45479E-6" "02580" "PET100_000001" "g.7694722G>C" "" "{PMID:Lim 2014: 24462369}" "MboI+" "" "" "Germline" "" "rs587777839" "0" "" "" "g.7629836G>C" "{CV:125441}" "pathogenic" "" "0000438321" "3" "99" "19" "7694722" "7694722" "subst" "7.45479E-6" "02580" "PET100_000001" "g.7694722G>C" "" "{PMID:Lim 2014: 24462369}" "MboI+" "" "" "Germline" "yes" "rs587777839" "0" "" "" "g.7629836G>C" "{CV:125441}" "pathogenic" "" "0000438322" "3" "99" "19" "7694722" "7694722" "subst" "7.45479E-6" "02580" "PET100_000001" "g.7694722G>C" "" "{PMID:Lim 2014: 24462369}" "MboI+" "" "" "Germline" "yes" "rs587777839" "0" "" "" "g.7629836G>C" "{CV:125441}" "pathogenic" "" "0000438323" "0" "99" "19" "7696362" "7696362" "subst" "7.5012E-6" "02580" "PET100_000002" "g.7696362C>T" "" "{PMID:Oláhová 2015:25293719}" "" "" "" "Germline" "yes" "rs587779779" "0" "" "" "g.7631476C>T" "{CV:128250}" "pathogenic" "" "0000568855" "0" "30" "19" "7694746" "7694746" "subst" "0" "01804" "PET100_000003" "g.7694746G>A" "" "" "" "PET100(NM_001171155.1):c.27G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7629860G>A" "" "likely benign" "" "0000568856" "0" "50" "19" "7695505" "7695505" "subst" "0.0016859" "01943" "PET100_000004" "g.7695505A>G" "" "" "" "PET100(NM_001171155.1):c.74A>G (p.N25S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7630619A>G" "" "VUS" "" "0000568857" "0" "10" "19" "7695513" "7695513" "subst" "0.00105372" "01943" "PET100_000005" "g.7695513G>A" "" "" "" "PET100(NM_001171155.1):c.82G>A (p.E28K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7630627G>A" "" "benign" "" "0000568858" "0" "30" "19" "7696678" "7696678" "subst" "0.00271383" "01804" "PET100_000006" "g.7696678C>T" "" "" "" "PCP2(NM_001271830.1):c.260G>A (p.(Arg87Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7631792C>T" "" "likely benign" "" "0000568859" "0" "50" "19" "7703623" "7703623" "subst" "0.000674079" "01943" "PET100_000007" "g.7703623G>A" "" "" "" "STXBP2(NM_001272034.1):c.49G>A (p.G17R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7638737G>A" "" "VUS" "" "0000568860" "0" "10" "19" "7703982" "7703982" "subst" "0.00196682" "01943" "PET100_000008" "g.7703982C>T" "" "" "" "STXBP2(NM_001272034.1):c.165C>T (p.I55=), STXBP2(NM_001272034.2):c.165C>T (p.I55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7639096C>T" "" "benign" "" "0000568861" "0" "10" "19" "7705239" "7705240" "dup" "0" "02326" "PET100_000009" "g.7705239_7705240dup" "" "" "" "STXBP2(NM_001272034.2):c.247-345_247-344dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7640353_7640354dup" "" "benign" "" "0000624107" "0" "50" "19" "7695706" "7695706" "subst" "1.47793E-5" "01943" "PET100_000010" "g.7695706C>G" "" "" "" "PET100(NM_001171155.1):c.115-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7630820C>G" "" "VUS" "" "0000650066" "1" "30" "19" "7695513" "7695513" "subst" "0.00105372" "03575" "PET100_000005" "g.7695513G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs4134804}" "Germline" "" "rs4134804" "0" "" "" "g.7630627G>A" "" "likely benign" "" "0000658696" "0" "50" "19" "7694742" "7694750" "del" "0" "01943" "PET100_000011" "g.7694742_7694750del" "" "" "" "PET100(NM_001171155.1):c.23_27+4delTTCGGGTCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7629856_7629864del" "" "VUS" "" "0000727579" "0" "50" "19" "7705818" "7705818" "subst" "9.74564E-5" "01943" "PET100_000012" "g.7705818C>T" "" "" "" "STXBP2(NM_001272034.1):c.391C>T (p.R131C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809117" "0" "30" "19" "7705899" "7705899" "subst" "0" "01943" "PET100_000013" "g.7705899G>C" "" "" "" "STXBP2(NM_001272034.1):c.462+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915329" "0" "30" "19" "7703594" "7703594" "subst" "2.43639E-5" "02326" "PET100_000014" "g.7703594C>T" "" "" "" "STXBP2(NM_001272034.2):c.38-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931132" "0" "90" "19" "7705634" "7705634" "del" "0" "02325" "PET100_000015" "g.7705634del" "" "" "" "STXBP2(NM_006949.4):c.264delC (p.D90Tfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951383" "0" "30" "19" "7703998" "7703998" "subst" "0.00306357" "02326" "PET100_000016" "g.7703998C>T" "" "" "" "STXBP2(NM_001272034.2):c.169+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970045" "0" "10" "19" "7703982" "7703982" "subst" "0.00196682" "02326" "PET100_000008" "g.7703982C>T" "" "" "" "STXBP2(NM_001272034.1):c.165C>T (p.I55=), STXBP2(NM_001272034.2):c.165C>T (p.I55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 PET100 ## Count = 35 "{{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}}" "0000314217" "00015979" "30" "8491" "0" "8491" "0" "c.*8269C>T" "r.(=)" "p.(=)" "" "0000314218" "00015979" "10" "8807" "0" "8808" "0" "c.*8585_*8586del" "r.(=)" "p.(=)" "" "0000314219" "00015979" "10" "8534" "0" "8535" "0" "c.*8312_*8313del" "r.(=)" "p.(=)" "" "0000314220" "00015979" "10" "9087" "0" "9087" "0" "c.*8865C>T" "r.(=)" "p.(=)" "" "0000314222" "00015979" "30" "9462" "0" "9462" "0" "c.*9240C>T" "r.(=)" "p.(=)" "" "0000314223" "00015979" "30" "9494" "0" "9494" "0" "c.*9272G>C" "r.(=)" "p.(=)" "" "0000314224" "00015979" "10" "7385" "0" "7385" "0" "c.*7163C>T" "r.(=)" "p.(=)" "" "0000315906" "00015979" "30" "5830" "0" "5830" "0" "c.*5608G>A" "r.(=)" "p.(=)" "" "0000435217" "00015979" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.Met1?" "1" "0000435687" "00015979" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.Met1?" "1" "0000437843" "00015979" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.Met1?" "1" "0000437844" "00015979" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.Met1?" "1" "0000437845" "00015979" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.Met1?" "1" "0000438318" "00015979" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.Met1?" "1" "0000438319" "00015979" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.Met1?" "1" "0000438320" "00015979" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.Met1?" "1" "0000438321" "00015979" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.Met1?" "1" "0000438322" "00015979" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.Met1?" "1" "0000438323" "00015979" "99" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.Gln48*" "4" "0000568855" "00015979" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Arg9=)" "" "0000568856" "00015979" "50" "74" "0" "74" "0" "c.74A>G" "r.(?)" "p.(Asn25Ser)" "" "0000568857" "00015979" "10" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Glu28Lys)" "" "0000568858" "00015979" "30" "458" "0" "458" "0" "c.*236C>T" "r.(=)" "p.(=)" "" "0000568859" "00015979" "50" "7403" "0" "7403" "0" "c.*7181G>A" "r.(=)" "p.(=)" "" "0000568860" "00015979" "10" "7762" "0" "7762" "0" "c.*7540C>T" "r.(=)" "p.(=)" "" "0000568861" "00015979" "10" "9019" "0" "9020" "0" "c.*8797_*8798dup" "r.(=)" "p.(=)" "" "0000624107" "00015979" "50" "115" "-3" "115" "-3" "c.115-3C>G" "r.spl?" "p.?" "" "0000650066" "00015979" "30" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Glu28Lys)" "" "0000658696" "00015979" "50" "23" "0" "27" "4" "c.23_27+4del" "r.spl?" "p.?" "" "0000727579" "00015979" "50" "9598" "0" "9598" "0" "c.*9376C>T" "r.(=)" "p.(=)" "" "0000809117" "00015979" "30" "9679" "0" "9679" "0" "c.*9457G>C" "r.(=)" "p.(=)" "" "0000915329" "00015979" "30" "7374" "0" "7374" "0" "c.*7152C>T" "r.(=)" "p.(=)" "" "0000931132" "00015979" "90" "9414" "0" "9414" "0" "c.*9192del" "r.(?)" "p.(=)" "" "0000951383" "00015979" "30" "7778" "0" "7778" "0" "c.*7556C>T" "r.(=)" "p.(=)" "" "0000970045" "00015979" "10" "7762" "0" "7762" "0" "c.*7540C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000205807" "0000435217" "0000206255" "0000435687" "0000208047" "0000437843" "0000208048" "0000437844" "0000208049" "0000437845" "0000208455" "0000438318" "0000208456" "0000438319" "0000208457" "0000438320" "0000208458" "0000438321" "0000208459" "0000438322" "0000208460" "0000438323" "0000293377" "0000650066"