### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PROSC) # 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}}" "PROSC" "proline synthetase co-transcribed homolog (bacterial)" "8" "p11.2" "unknown" "NC_000008.10" "UD_136090314168" "" "https://www.LOVD.nl/PLPBP" "" "1" "9457" "11212" "604436" "1" "1" "1" "1" "NOTE: gene name changed from PROSC to PLPBP\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from PROSC to PLPBP" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-03 20:34:04" "00000" "2025-07-08 13:22:38" ## 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}}" "00016890" "PROSC" "proline synthetase co-transcribed homolog (bacterial)" "001" "NM_007198.3" "" "NP_009129.1" "" "" "" "-77" "2492" "828" "37620101" "37637286" "" "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" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "06783" "EPVB6D" "Epilepsy, early-onset, vitamin B6-dependent" "AR" "617290" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PROSC" "06783" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00265203" "" "" "" "1" "" "00006" "{PMID:Kiselev 2019:31297131}" "" "F" "" "Sweden" "" "0" "" "" "" "Pat" "00395232" "" "" "" "1" "" "00006" "{PMID:Darin 2016:27912044}" "4-generation family, 3 affect3d (F, 2M)" "M" "yes" "Sweden" "4m15d" "0" "" "" "Syria" "FamPatIV1/Pat1" "00395233" "" "" "" "1" "" "00006" "{PMID:Darin 2016:27912044}" "" "M" "yes" "Sweden" "" "0" "" "" "Syria" "FamPatIV2/Pat2" "00395234" "" "" "" "1" "" "00006" "{PMID:Darin 2016:27912044}" "" "F" "yes" "Sweden" "" "0" "" "" "Syria" "FamPatIV6/Pat3" "00395235" "" "" "" "1" "" "00006" "{PMID:Darin 2016:27912044}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "India" "Pat4" "00395236" "" "" "" "1" "" "00006" "{PMID:Darin 2016:27912044}" "" "F" "no" "Germany" "" "0" "" "" "" "Pat5" "00395237" "" "" "" "1" "" "00006" "{PMID:Darin 2016:27912044}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "India" "Pat6" "00395238" "" "" "" "1" "" "00006" "{PMID:Darin 2016:27912044}" "" "M" "no" "Italy" "" "0" "" "" "" "Pat7" "00395239" "" "" "" "1" "" "00006" "{PMID:Pal 2021:33977028}" "" "" "" "Canada" "" "0" "" "" "" "PatA" "00395240" "" "" "" "1" "" "00006" "{PMID:Pal 2021:33977028}" "" "" "" "Canada" "" "0" "" "" "" "PatB" "00395241" "" "" "" "1" "" "00006" "{PMID:Pal 2021:33977028}" "" "" "" "Canada" "" "0" "" "" "" "PatC" "00395242" "" "" "" "1" "" "00006" "{PMID:Pal 2021:33977028}" "" "" "" "Canada" "" "0" "" "" "" "PatD" "00395243" "" "" "" "1" "" "00006" "{PMID:Pal 2021:33977028}" "" "" "" "Canada" "" "0" "" "" "" "PatE" "00426163" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "16SN9500" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00265203" "05121" "00395232" "04270" "00395233" "04270" "00395234" "04270" "00395235" "04270" "00395236" "04270" "00395237" "04270" "00395238" "04270" "00395239" "04270" "00395240" "04270" "00395241" "04270" "00395242" "04270" "00395243" "04270" "00426163" "00139" "00426163" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04270, 05121, 06783 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000203031" "05121" "00265203" "00006" "Unknown" "53y" "see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy" "44y" "" "" "" "" "" "" "" "muscular dystrophy" "0000288432" "04270" "00395232" "00006" "Familial, autosomal recessive" "4m15d" "4m15d-deceased; birth 32w, no abnormal intrauterine movements, fetal distress, OFC 0.25-0.50; anemia at birth; acidosis; raised blood lactate; no respiratory distress; no neonatal hypertonia; no neonatal hypotonia; abdominal distension, vomiting, or feed intolerance; necrotising enterocolitis; <24h seizures; EEG burst suppression, reduced background activity; tonic seizures, no clonic seizures, no generalized tonic-clonic seizures, myoclonic seizures, lip-smacking and/or grimacing seizures, response to pyridoxine; respiratory depression upon treatment with pyridoxine in neonatal period; acquired microcephaly; minor dysmorphic features" "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288433" "04270" "00395233" "00006" "Familial, autosomal recessive" "9y" "birth 40w, abnormal intrauterine movements, no fetal distress, OFC 0.02-0.09; no anemia at birth; no acidosis; no raised blood lactate; no respiratory distress; neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; <24h seizures; EEG no burst suppression, reduced background activity, focal discharge(s); tonic seizures, no clonic seizures, generalized tonic-clonic seizures, myoclonic seizures, no lip-smacking and/or grimacing seizures, response to pyridoxine; no respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; motor delay; learning difficulties; breakthrough seizures with fever; acquired microcephaly; minor dysmorphic features" "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288434" "04270" "00395234" "00006" "Familial, autosomal recessive" "6y" "birth 36w6d, abnormal intrauterine movements, no fetal distress, OFC 0.09; no anemia at birth; acidosis; no raised blood lactate; no respiratory distress; no neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; <24h seizures; EEG burst suppression, reduced background activity; no clonic seizures, generalized tonic-clonic seizures, no myoclonic seizures, no lip-smacking and/or grimacing seizures, response to pyridoxine; no respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; motor delay; learning difficulties; breakthrough seizures with fever; acquired microcephaly; minor dysmorphic features" "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288435" "04270" "00395235" "00006" "Familial, autosomal recessive" "3y6m" "birth 36w3d, abnormal intrauterine movements, fetal distress, OFC 0.90; anemia at birth; acidosis; raised blood lactate; respiratory distress; neonatal hypertonia; no neonatal hypotonia; abdominal distension, vomiting, or feed intolerance; irritability; <24h seizures; EEG burst suppression; no clonic seizures, generalized tonic-clonic seizures, no myoclonic seizures, lip-smacking and/or grimacing seizures, response to pyridoxine; no respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; motor delay; learning difficulties; no breakthrough seizures with fever; acquired microcephaly;" "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288436" "04270" "00395236" "00006" "Familial, autosomal recessive" "5y6m" "birth 35w1d, no abnormal intrauterine movements, fetal distress, OFC 0.09; no anemia at birth; acidosis; raised blood lactate; respiratory distress; no neonatal hypertonia; neonatal hypotonia; abdominal distension, vomiting, or feed intolerance; irritability; <24h seizures; EEG burst suppression, multifocal spikes; tonic seizures, no clonic seizures, no generalized tonic-clonic seizures, myoclonic seizures, lip-smacking and/or grimacing seizures, response to pyridoxine; respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; motor delay; learning difficulties; breakthrough seizures with fever; acquired microcephaly; minor dysmorphic features" "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288437" "04270" "00395237" "00006" "Familial, autosomal recessive" "3y2m" "birth 39w, no abnormal intrauterine movements, fetal distress, OFC 0.09; no anemia at birth; acidosis; raised blood lactate; respiratory distress; neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; irritability; <24h seizures; EEG burst suppression,; tonic seizures, clonic seizures, generalized tonic-clonic seizures, no myoclonic seizures, response to pyridoxine; no respiratory depression upon treatment with pyridoxine in neonatal period; speech delay; no motor delay; learning difficulties; breakthrough seizures with fever; acquired microcephaly; no dysmorphic features" "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288438" "04270" "00395238" "00006" "Familial, autosomal recessive" "16y" "birth 39w, no abnormal intrauterine movements, no fetal distress, OFC 0.25-0.50; no anemia at birth; no acidosis; no respiratory distress; no neonatal hypertonia; no neonatal hypotonia; no abdominal distension, vomiting, or feed intolerance; no irritability; EEG no burst suppression, no reduced background activity, no focal discharge(s), no multifocal spikes; no clonic seizures, generalized tonic-clonic seizures, no myoclonic seizures, response to pyridoxine; no speech delay; no motor delay; learning difficulties; breakthrough seizures with fever; no microcephaly; no dysmorphic features" "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288439" "04270" "00395239" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288440" "04270" "00395240" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288441" "04270" "00395241" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288442" "04270" "00395242" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000288443" "04270" "00395243" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "EPVB6D" "epilepsy" "0000317313" "00139" "00426163" "00006" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "Trichohepatoenteric syndrome 1" "intellectual disability" "0000317354" "04270" "00426163" "00006" "Familial, autosomal recessive" "03y" "" "" "" "" "" "" "" "" "EPVB6D" "epilepsy" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000266323" "00265203" "1" "00006" "00006" "2019-09-14 13:39:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000396478" "00395232" "1" "00006" "00006" "2021-12-03 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396479" "00395233" "1" "00006" "00006" "2021-12-03 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396480" "00395234" "1" "00006" "00006" "2021-12-03 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396481" "00395235" "1" "00006" "00006" "2021-12-03 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396482" "00395236" "1" "00006" "00006" "2021-12-03 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396483" "00395237" "1" "00006" "00006" "2021-12-03 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396484" "00395238" "1" "00006" "00006" "2021-12-03 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396485" "00395239" "1" "00006" "00006" "2021-12-03 21:52:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396486" "00395240" "1" "00006" "00006" "2021-12-03 21:52:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396487" "00395241" "1" "00006" "00006" "2021-12-03 21:52:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396488" "00395242" "1" "00006" "00006" "2021-12-03 21:52:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396489" "00395243" "1" "00006" "00006" "2021-12-03 21:52:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427483" "00426163" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000266323" "MYOF" ## 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 = 25 "{{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}}" "0000534709" "0" "50" "8" "37630340" "37630340" "del" "0" "01804" "PROSC_000004" "g.37630340del" "" "" "" "PROSC(NM_007198.3):c.386delC (p.(Trp130GlyfsTer10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37772822del" "" "VUS" "" "0000596973" "0" "50" "8" "37623835" "37623835" "subst" "0.000131568" "00006" "PROSC_000005" "g.37623835T>C" "" "{PMID:Kiselev 2019:31297131}" "" "" "" "Germline" "" "rs201316839" "0" "" "" "g.37766317T>C" "" "VUS" "" "0000721965" "0" "50" "8" "37620276" "37620276" "subst" "0" "01943" "ERLIN2_000009" "g.37620276G>T" "" "" "" "PLPBP(NM_001349346.1):c.99G>T (p.R33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721966" "0" "30" "8" "37623076" "37623076" "subst" "0.000792161" "01943" "PROSC_000006" "g.37623076G>A" "" "" "" "PLPBP(NM_001349346.1):c.132G>A (p.A44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000828120" "3" "90" "8" "37623254" "37623254" "subst" "0" "00006" "PROSC_000009" "g.37623254C>G" "" "{PMID:Darin 2016:27912044}" "" "" "" "Germline" "" "" "0" "" "" "g.37765736C>G" "" "pathogenic (recessive)" "" "0000828121" "3" "90" "8" "37623254" "37623254" "subst" "0" "00006" "PROSC_000009" "g.37623254C>G" "" "{PMID:Darin 2016:27912044}" "" "" "" "Germline" "" "" "0" "" "" "g.37765736C>G" "" "pathogenic (recessive)" "" "0000828122" "3" "90" "8" "37623254" "37623254" "subst" "0" "00006" "PROSC_000009" "g.37623254C>G" "" "{PMID:Darin 2016:27912044}" "" "" "" "Germline" "" "" "0" "" "" "g.37765736C>G" "" "pathogenic (recessive)" "" "0000828123" "21" "90" "8" "37632926" "37632926" "subst" "8.1213E-6" "00006" "PROSC_000012" "g.37632926T>C" "" "{PMID:Darin 2016:27912044}" "" "" "" "Germline" "" "" "0" "" "" "g.37775408T>C" "" "pathogenic (recessive)" "" "0000828124" "3" "90" "8" "37623152" "37623152" "subst" "0.000101514" "00006" "PROSC_000007" "g.37623152G>A" "" "{PMID:Darin 2016:27912044}" "" "" "" "Germline" "" "" "0" "" "" "g.37765634G>A" "" "pathogenic (recessive)" "" "0000828125" "3" "90" "8" "37623232" "37623232" "subst" "0" "00006" "PROSC_000008" "g.37623232C>T" "" "{PMID:Darin 2016:27912044}" "" "" "" "Germline" "" "" "0" "" "" "g.37765714C>T" "" "pathogenic (recessive)" "" "0000828126" "21" "90" "8" "37623814" "37623814" "subst" "1.23687E-5" "00006" "PROSC_000010" "g.37623814C>T" "" "{PMID:Darin 2016:27912044}" "" "" "" "Germline" "" "" "0" "" "" "g.37766296C>T" "" "pathogenic (recessive)" "" "0000828127" "11" "90" "8" "37630271" "37630271" "subst" "8.12203E-6" "00006" "PROSC_000002" "g.37630271A>G" "" "{PMID:Acar 2018:29505567}" "" "" "" "Germline" "" "" "0" "" "" "g.37772753A>G" "" "pathogenic (recessive)" "" "0000828128" "11" "90" "8" "37635516" "37635516" "subst" "2.84379E-5" "00006" "PROSC_000013" "g.37635516G>A" "" "{PMID:Acar 2018:29505567}" "" "" "" "Germline" "" "" "0" "" "" "g.37777998G>A" "" "pathogenic (recessive)" "" "0000828129" "3" "90" "8" "37630323" "37630326" "del" "0" "00006" "PROSC_000011" "g.37630323_37630326del" "" "{PMID:Pal 2021:33977028}" "" "" "" "Germline" "" "rs755595256" "0" "" "" "g.37772805_37772808del" "" "pathogenic (recessive)" "" "0000828130" "3" "90" "8" "37630323" "37630326" "del" "0" "00006" "PROSC_000011" "g.37630323_37630326del" "" "{PMID:Pal 2021:33977028}" "" "" "" "Germline" "" "rs755595256" "0" "" "" "g.37772805_37772808del" "" "pathogenic (recessive)" "" "0000828131" "3" "90" "8" "37630323" "37630326" "del" "0" "00006" "PROSC_000011" "g.37630323_37630326del" "" "{PMID:Pal 2021:33977028}" "" "" "" "Germline" "" "rs755595256" "0" "" "" "g.37772805_37772808del" "" "pathogenic (recessive)" "" "0000828132" "3" "90" "8" "37630323" "37630326" "del" "0" "00006" "PROSC_000011" "g.37630323_37630326del" "" "{PMID:Pal 2021:33977028}" "" "" "" "Germline" "" "rs755595256" "0" "" "" "g.37772805_37772808del" "" "pathogenic (recessive)" "" "0000828133" "3" "90" "8" "37630323" "37630326" "del" "0" "00006" "PROSC_000011" "g.37630323_37630326del" "" "{PMID:Pal 2021:33977028}" "" "" "" "Germline" "" "rs755595256" "0" "" "" "g.37772805_37772808del" "" "pathogenic (recessive)" "" "0000851912" "0" "30" "8" "37623842" "37623842" "subst" "0.000347429" "01943" "PROSC_000014" "g.37623842C>T" "" "" "" "PLPBP(NM_001349346.1):c.288C>T (p.H96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904884" "3" "70" "8" "37633444" "37633445" "ins" "0" "00006" "PROSC_000015" "g.37633444_37633445insC" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.37775926_37775927insC" "" "likely pathogenic (recessive)" "" "0000949072" "0" "50" "8" "37630398" "37630398" "subst" "5.27949E-5" "02327" "PROSC_000016" "g.37630398G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978187" "0" "50" "8" "37620066" "37620066" "subst" "0" "01804" "ERLIN2_000014" "g.37620066C>T" "" "" "" "PLPBP(NM_001349349.1):c.-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978188" "0" "50" "8" "37620154" "37620154" "subst" "7.1609E-5" "01804" "ERLIN2_000015" "g.37620154G>T" "" "" "" "PLPBP(NM_001349349.1):c.82G>T (p.(Gly28Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036945" "0" "50" "8" "37623273" "37623273" "subst" "2.48464E-5" "01804" "PROSC_000017" "g.37623273A>G" "" "" "" "PLPBP(NM_007198.4):c.243+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046160" "0" "10" "8" "37623101" "37623101" "subst" "0.00438141" "02326" "PROSC_000018" "g.37623101A>G" "" "" "" "PLPBP(NM_007198.4):c.157A>G (p.M53V)" "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 PROSC ## Count = 25 "{{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}}" "0000534709" "00016890" "50" "387" "0" "387" "0" "c.387del" "r.(?)" "p.(Trp130GlyfsTer10)" "" "0000596973" "00016890" "50" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Ile94Thr)" "" "0000721965" "00016890" "50" "99" "0" "99" "0" "c.99G>T" "r.(?)" "p.(Arg33=)" "" "0000721966" "00016890" "30" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Ala44=)" "" "0000828120" "00016890" "90" "233" "0" "233" "0" "c.233C>G" "r.(?)" "p.(Ser78Ter)" "3" "0000828121" "00016890" "90" "233" "0" "233" "0" "c.233C>G" "r.(?)" "p.(Ser78Ter)" "3" "0000828122" "00016890" "90" "233" "0" "233" "0" "c.233C>G" "r.(?)" "p.(Ser78Ter)" "3" "0000828123" "00016890" "90" "524" "0" "524" "0" "c.524T>C" "r.(?)" "p.(Leu175Pro)" "6" "0000828124" "00016890" "90" "207" "1" "207" "1" "c.207+1G>A" "r.[207_208ins[a;207+2_208-1],100_207del]" "p.[Val70Ilefs*6,Asp34_Tyr69del]" "2i" "0000828125" "00016890" "90" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Gln71Ter)" "3" "0000828126" "00016890" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Pro87Leu)" "4i" "0000828127" "00016890" "90" "320" "-2" "320" "-2" "c.320-2A>G" "r.320_349del" "p.Ala107_Thr116del" "4i" "0000828128" "00016890" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241Gln)" "8" "0000828129" "00016890" "90" "370" "0" "373" "0" "c.370_373del" "r.(?)" "p.(Asp124LysfsTer2)" "" "0000828130" "00016890" "90" "370" "0" "373" "0" "c.370_373del" "r.(?)" "p.(Asp124LysfsTer2)" "" "0000828131" "00016890" "90" "370" "0" "373" "0" "c.370_373del" "r.(?)" "p.(Asp124LysfsTer2)" "" "0000828132" "00016890" "90" "370" "0" "373" "0" "c.370_373del" "r.(?)" "p.(Asp124LysfsTer2)" "" "0000828133" "00016890" "90" "370" "0" "373" "0" "c.370_373del" "r.(?)" "p.(Asp124LysfsTer2)" "" "0000851912" "00016890" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(His96=)" "" "0000904884" "00016890" "70" "606" "0" "607" "0" "c.606_607insC" "r.(?)" "p.(Ser203LeufsTer8)" "" "0000949072" "00016890" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Arg)" "" "0000978187" "00016890" "50" "-112" "0" "-112" "0" "c.-112C>T" "r.(?)" "p.(=)" "" "0000978188" "00016890" "50" "-24" "0" "-24" "0" "c.-24G>T" "r.(?)" "p.(=)" "" "0001036945" "00016890" "50" "243" "9" "243" "9" "c.243+9A>G" "r.(=)" "p.(=)" "" "0001046160" "00016890" "10" "157" "0" "157" "0" "c.157A>G" "r.(?)" "p.(Met53Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000266323" "0000596973" "0000396478" "0000828120" "0000396479" "0000828121" "0000396480" "0000828122" "0000396481" "0000828123" "0000396482" "0000828124" "0000396482" "0000828127" "0000396483" "0000828125" "0000396484" "0000828126" "0000396484" "0000828128" "0000396485" "0000828129" "0000396486" "0000828130" "0000396487" "0000828131" "0000396488" "0000828132" "0000396489" "0000828133" "0000427483" "0000904884"