### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCCA) # 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}}" "PCCA" "propionyl CoA carboxylase, alpha polypeptide" "13" "q32" "unknown" "NG_008768.1" "UD_131065121611" "" "https://www.LOVD.nl/PCCA" "Propionyl CoA Carboxylase databases main page " "1" "8653" "5095" "232000" "1" "1" "1" "1" "For this database we have collaborated with the Kraus lab and their databases for deficiency of cystathionine beta-synthase (CBS) and propionyl CoA carboxylase (PCC). Most data collected derive from the PCCA database (Jan P. Kraus, Sarah Venezia & Mirek Janosik) and we refer to the original source for more detailed information.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PCCA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2021-04-29 09:46:20" "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}}" "00015732" "PCCA" "transcript variant 1" "001" "NM_000282.3" "" "NP_000273.2" "" "" "" "-106" "2458" "2187" "100741269" "101182691" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02571" "-" "acidemia, propionic" "AR" "606054" "" "" "" "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}}" "PCCA" "02571" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00000030" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00081009" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00104049" "" "" "" "1" "" "01965" "" "" "" "" "" "" "0" "" "" "" "" "00104054" "" "" "" "1" "" "01968" "{PMID:Desviat 2009:19157943}" "" "" "" "" "" "0" "" "" "" "p1" "00104055" "" "" "" "1" "" "01968" "{PMID:Desviat 2009:19157943}" "" "" "" "" "" "0" "" "" "" "p2" "00104056" "" "" "" "1" "" "01968" "{PMID:Desviat 2009:19157943}" "" "" "" "" "" "0" "" "" "" "p3" "00104057" "" "" "" "1" "" "00006" "{PMID:Richard 1997:9385377}, {PMID:Clavero 2004:15235904}" "" "" "" "" ">18y" "0" "" "" "" "09385377-MSO" "00104058" "" "" "" "1" "" "00006" "{PMID:Richard 1997:9385377}" "" "" "" "" "" "0" "" "" "" "09385377-SAG" "00104059" "" "" "" "1" "" "00006" "{PMID:Richard 1997:9385377}" "" "" "" "" "" "0" "" "" "" "09385377-JJLF" "00104060" "" "" "" "1" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "Australia" "" "0" "" "" "" "19157943-?" "00104061" "" "" "" "1" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "Germany" "" "0" "" "" "" "19157943-?" "00104062" "" "" "" "5" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "" "" "0" "" "" "" "19157943-?" "00104063" "" "" "" "3" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "" "" "0" "" "" "" "19157943-?" "00104064" "" "" "" "4" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "" "" "0" "" "" "Arab" "19157943-?" "00104065" "" "" "" "1" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "" "" "0" "" "" "Arab" "19157943-?" "00104066" "" "" "" "1" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "Malaysia" "" "0" "" "" "" "19157943-?" "00104067" "" "" "" "1" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "Italy" "" "0" "" "" "" "19157943-?" "00104068" "" "" "" "1" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "Spain" "" "0" "" "" "" "19157943-?" "00104069" "" "" "" "1" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "Germany" "" "0" "" "" "" "19157943-?" "00104070" "" "" "" "1" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "United States" "" "0" "" "" "" "19157943-?" "00104071" "" "" "" "1" "" "00006" "{PMID:Desviat 2009:19157943}" "" "" "" "Lebanon" "" "0" "" "" "" "19157943-?" "00290826" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290827" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290828" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290829" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295490" "" "" "" "1" "" "03619" "" "" "M" "" "China" "" "0" "" "" "" "" "00295491" "" "" "" "1" "" "03619" "" "" "F" "" "China" "" "0" "" "" "" "" "00306714" "" "" "" "2" "" "01941" "{PMID:Neumann 2021:34734058}" "healthy couple at-risk with denied consanguinity and antecedent of a deceased newborn due to a biochemically confirmed Propionic Acidemia without confirmed PCCA/PCCB genotype" "-" "no" "Mexico" "32y" "0" "" "" "Mexican" "" "00308743" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00380812" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00452264" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00464611" "" "" "" "1" "" "04221" "Unpublished" "" "F" "yes" "Mexico" "?" "" "" "" "Mexican" "AP-21" "00464612" "" "" "" "1" "" "04221" "Unpublished" "" "F" "?" "Mexico" "?" "" "" "" "Mexican" "AP-08" "00464616" "" "" "" "1" "" "04221" "Unpublished" "" "F" "?" "Mexico" "12y04m17y" "" "" "" "Mexican" "AP-19" "00464625" "" "" "" "2" "" "04221" "Unpublished" "" "F" "yes" "Mexico" "14y09m19d" "" "" "" "Mexican" "AP-13" "00464626" "" "" "" "1" "" "04221" "Unpublished" "" "M" "?" "Mexico" "?" "" "" "" "Mexican" "AP-16" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00000030" "00000" "00081009" "02571" "00104049" "00198" "00104054" "02571" "00104055" "02571" "00104056" "02571" "00104057" "02571" "00104058" "02571" "00104059" "02571" "00104060" "02571" "00104061" "02571" "00104062" "02571" "00104063" "02571" "00104064" "02571" "00104065" "02571" "00104066" "02571" "00104067" "02571" "00104068" "02571" "00104069" "02571" "00104070" "02571" "00104071" "02571" "00290826" "00198" "00290827" "00198" "00290828" "00198" "00290829" "00198" "00295490" "02571" "00295491" "02571" "00306714" "00000" "00308743" "00000" "00380812" "02571" "00452264" "00198" "00464611" "02571" "00464612" "02571" "00464616" "02571" "00464625" "02571" "00464626" "02571" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02571 ## Count = 29 "{{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}}" "0000060578" "02571" "00081009" "01758" "Familial, autosomal recessive" "" "Propionicacidemia (OMIM:606054)" "" "" "" "" "" "" "" "" "" "" "" "0000081991" "00198" "00104049" "01965" "Familial, autosomal recessive" "" "Propionic acidemia with adult-onset dilated cardiomyopathy." "55y" "" "" "" "" "" "" "" "" "" "" "0000081994" "02571" "00104054" "01968" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081995" "02571" "00104055" "01968" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081996" "02571" "00104056" "01968" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081997" "02571" "00104057" "00006" "Familial, autosomal recessive" "" "late-onset, relatively mild; favorable response to restriction dietary protein, psychomotor development adequate" "1y5m" "" "" "" "" "" "" "" "" "" "" "0000081998" "02571" "00104058" "00006" "Familial, autosomal recessive" "" "late-onset; favorable response to restriction dietary protein, psychomotor development adequate" "6y" "" "" "" "" "" "" "" "" "" "" "0000081999" "02571" "00104059" "00006" "Familial, autosomal recessive" "" "severe, neonatal, died soon after diagnosis" "14d" "" "" "" "" "" "" "" "" "" "" "0000082000" "02571" "00104060" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082001" "02571" "00104061" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082002" "02571" "00104062" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082003" "02571" "00104063" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082004" "02571" "00104064" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082005" "02571" "00104065" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082006" "02571" "00104066" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082007" "02571" "00104067" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082008" "02571" "00104068" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082009" "02571" "00104069" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082010" "02571" "00104070" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082011" "02571" "00104071" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223060" "02571" "00295490" "03619" "Familial, autosomal recessive" "" "Patient was three weeks old when he presented with tachypnea and malignant hyperthermia, and was diagnosed with presumed sepsis. He was admitted to the hospital three times due to recurrent andrespiratory tract infections. At six months of age, he developed generalized tonic clonic seizures, metabolic acidosis (bicarbonate, 15.4 mmol/L) and hyperammonemia (ammonia, 516μmol/L). Only then did he undergo the screening by MS/MS and GC-MS, and diagnosed with PA. Unfortunately, he died at six and a half months of age from sudden cardiac arrest." "" "" "" "" "" "" "" "" "" "" "" "0000223061" "02571" "00295491" "03619" "Familial, autosomal recessive" "" "Patient had suffered from recurrent vomiting, lethargy and hyperventilation at the age of one month. He underwent fundoplication and gastrostomy tube placement at age of 1.5 years for caloric intake. He is now three years old and has shown mild mental retardation, and his weight has increased from the 5th percentile to the 20th percentile." "" "" "" "" "" "" "" "" "" "" "" "0000274665" "02571" "00380812" "00000" "Familial" "" "DD; ID; regression; muscular hypotonia; neuropathy; abnormal hair; failure to thrive; severe encephalopathy; Nerves disease (Neurological)" "" "" "" "" "" "" "" "" "Propionic acidemia" "" "" "0000340867" "00198" "00452264" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "propionic acidemia" "" "0000350599" "02571" "00464611" "04221" "Familial, autosomal recessive" "12y05m23d" "HP:0001263" "?" "?" "?" "" "" "" "" "" "propionic acidemia" "propionic acidemia" "" "0000350600" "02571" "00464612" "04221" "Familial, autosomal recessive" "00y02m04d" "HP:0011968 feeding difficulties, HP:0002013: vomiting,  HP:0002020: Gastroesophageal reflux , HP:0000952: Jaundice, HP:0001903: anemia,  HP:0001875: neutropenia,  HP:0001873: Thrombocytopenia,  HP:0001250: seisure,  HP:0002181: cerebral edema,  HP:0001336: Myoclonus, HP:0001942: metabolic acidosis, HP:0031962: Elevated serum anion gap,  HP:0001987: Hyperammonemia, HP:0001943: Hypoglycemia, HP:0003074: Hyperglycemia," "" "00y00m04d" "" "" "" "" "" "" "Propionic acidemia" "Propionic acidemia" "" "0000350603" "02571" "00464616" "04221" "Familial, autosomal recessive" "00y02m24d" "HP:0011096 Somnolence, HP:0001254 Lethargy, HP:0001252 Hypotonia, HP:0001257 Spasticity, HP:0001944 Dehydration, HP:0002033 Poor suck , HP:0011968 Feeding difficulties,  HP:0002013 Vomiting, HP:0001903 Anemia, Leukopenia HP:0001882, HP:0001875 Neutropenia, HP:0001888 Lymphopenia, HP:0001873 Thrombocytopenia, HP:0001987 Hyperammonemia,  HP:0001943 Hypoglycemia" "" "00y03m01d" "" "" "" "" "" "" "propionic acidemia" "propionic acidemia" "" "0000350616" "02571" "00464625" "04221" "Familial, X-linked" "00y05m21d" "HP:0000737 Irritability, HP:0011096 Somnolence,HP.0001254 Lethargy, HP:0001252 Hypotonia, HP:0001944 Dehydration, HP:0000980 Pallor, HP:0030680 Congenital malformation, HP:0002104 Apnea, HP:0002789 Tachypnea, HP.0002094 Dyspnea, HP:0002033 Poor suck, HP:0011968 Feeding difficulties,  HP:0002013 Vomiting,  HP:0002020  Gastroesophageal reflux,  HP:0002014 Diarrhea,  HP:0002019 Constipation, HP:0002240 Hepatomegaly, HP:0001947 Renal tubular acidosis,   HP:0000951 Abnormality of the skin,  HP:0100806 Sepsis, HP:0001945 Fever,  HP:0001903 Anemia , Leukopenia HP:0001882,  HP:0001875 Neutropenia,  HP:0001888 Lymphopenia,  HP:0001873Thrombocytopenia,  HP:0001263 Global developmental delay,  HP:0001250 Seizure,  HP:0001342 Cerebral hemorrhage,   HP:0002059 Cerebral atrophy ,  HP:0001336 Myoclonus,  HP:0001337 Tremor, HP:0001942 Metabolic acidosis ,  HP:0001987 Hyperammonemia, Hypoglycemia HP:0001943" "" "00y05m21d" "" "" "" "" "" "" "\" Propionic acidemia\"" "\" Propionic acidemia\"" "" "0000350617" "02571" "00464626" "04221" "Familial, autosomal recessive" "00y01m06d" "HP:0001252 Hypotonia, HP:0001944 Dehydration, HP:0001945 Hypothermia, HP:0001662 Bradycardia, Poor suck HP:0002033, HP:0011968 Feeding difficulties,  HP:0000952 Jaundice,  HP:0001250 Seizure, Hypoglycemia HP:0001943  " "" "00y01m13d" "" "" "" "" "" "" "Propionic acidemia" "Propionic acidemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000030" "00000030" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000081121" "00081009" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104520" "00104049" "1" "01965" "01965" "2017-05-06 11:31:14" "" "" "MLPA;SEQ" "DNA" "" "" "0000104525" "00104054" "1" "01968" "01968" "2011-11-17 16:08:00" "" "" "SEQ" "DNA" "" "" "0000104526" "00104055" "1" "01968" "01968" "2011-11-17 16:10:17" "" "" "SEQ" "DNA" "" "" "0000104527" "00104056" "1" "01968" "01968" "2011-11-17 16:18:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104528" "00104057" "1" "00006" "00006" "2011-11-18 16:32:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104529" "00104058" "1" "00006" "00006" "2011-11-18 16:32:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104530" "00104059" "1" "00006" "00006" "2011-11-18 16:32:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104531" "00104060" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104532" "00104061" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104533" "00104062" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104534" "00104063" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104535" "00104064" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104536" "00104065" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104537" "00104066" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104538" "00104067" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "MLPA" "DNA;RNA" "" "" "0000104539" "00104068" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "MLPA" "DNA;RNA" "" "" "0000104540" "00104069" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "MLPA" "DNA;RNA" "" "" "0000104541" "00104070" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "MLPA" "DNA;RNA" "" "" "0000104542" "00104071" "1" "00006" "00006" "2011-11-25 18:54:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000291994" "00290826" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291995" "00290827" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291996" "00290828" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291997" "00290829" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296657" "00295490" "1" "03619" "03619" "2020-03-12 02:57:32" "03619" "2020-03-12 09:50:57" "SEQ" "DNA" "" "" "0000296658" "00295491" "1" "03619" "03619" "2020-03-12 03:36:56" "" "" "SEQ" "DNA" "Perpheral Blood" "" "0000307850" "00306714" "1" "01941" "01941" "2020-07-15 20:34:21" "" "" "SEQ" "DNA" "blood peripheral leukocytes" "NGS-based gene panel for PCCA/PCCB genes. Genotypes confirmation by Sanger sequencing" "0000309888" "00308743" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000382026" "00380812" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000453866" "00452264" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000466254" "00464611" "1" "04221" "04221" "2025-04-01 21:29:55" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000466255" "00464612" "1" "04221" "04221" "2025-04-01 21:54:14" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000466259" "00464616" "1" "04221" "04221" "2025-04-02 22:07:59" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000466271" "00464625" "1" "04221" "04221" "2025-04-03 20:50:02" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000466272" "00464626" "1" "04221" "04221" "2025-04-03 21:24:46" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 83 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000000030" "ADA" "0000000030" "ATP7B" "0000000030" "CPT2" "0000000030" "GALC" "0000000030" "HEXB" "0000000030" "IGHMBP2" "0000000030" "NHLRC1" "0000000030" "SBDS" "0000000030" "SERPINA1" "0000000030" "SLC26A2" "0000000030" "SMPD1" "0000000030" "TTPA" "0000000030" "WNT10A" "0000081121" "PCCA" "0000104520" "PCCA" "0000104520" "PCCB" "0000104525" "PCCA" "0000104526" "PCCA" "0000104527" "PCCA" "0000104528" "PCCA" "0000104529" "PCCA" "0000104530" "PCCA" "0000104531" "PCCA" "0000104532" "PCCA" "0000104533" "PCCA" "0000104534" "PCCA" "0000104535" "PCCA" "0000104536" "PCCA" "0000104537" "PCCA" "0000104538" "PCCA" "0000104539" "PCCA" "0000104540" "PCCA" "0000104541" "PCCA" "0000104542" "PCCA" "0000296657" "PCCA" "0000296657" "PCCB" "0000296658" "PCCA" "0000296658" "PCCB" "0000307850" "PCCA" "0000307850" "PCCB" "0000309888" "PCCA" "0000453866" "PCCA" "0000466254" "PCCA" "0000466254" "PCCB" "0000466255" "PCCA" "0000466255" "PCCB" "0000466259" "PCCA" "0000466259" "PCCB" "0000466271" "PCCA" "0000466271" "PCCB" "0000466272" "PCCA" "0000466272" "PCCB" ## 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 = 124 "{{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}}" "0000130207" "3" "90" "13" "100809551" "100809551" "subst" "0" "01758" "PCCA_000021" "g.100809551G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.100157297G>A" "" "pathogenic" "ACMG" "0000169463" "10" "70" "13" "101182360" "101182360" "del" "0" "01965" "PCCA_000022" "g.101182360del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100530106del" "" "likely pathogenic" "" "0000169464" "21" "70" "13" "101167736" "101167789" "dup" "0" "01965" "PCCA_000023" "g.101167736_101167789dup" "" "" "" "1952_2005dup" "" "Germline" "" "" "0" "" "" "g.100515482_100515535dup" "" "likely pathogenic" "" "0000169470" "1" "70" "13" "100953759" "100953759" "subst" "0" "01968" "PCCA_000001" "g.100953759C>T" "" "{PMID:Desviat 2009:19157943}" "" "" "" "Germline" "" "" "0" "" "" "g.100301505C>T" "" "likely pathogenic" "" "0000169471" "1" "70" "13" "100953788" "100953788" "subst" "0" "01968" "PCCA_000002" "g.100953788C>A" "" "{PMID:Desviat 2009:19157943}" "" "" "" "Germline" "" "" "0" "" "" "g.100301534C>A" "" "likely pathogenic" "" "0000169472" "1" "70" "13" "101077971" "101077971" "subst" "0" "01968" "PCCA_000003" "g.101077971C>T" "" "{PMID:Desviat 2009:19157943}" "" "" "" "Germline" "" "" "0" "" "" "g.100425717C>T" "" "likely pathogenic" "" "0000169473" "3" "90" "13" "101101563" "101101566" "del" "0" "00006" "PCCA_000004" "g.101101563_101101566del" "" "{PMID:Richard 1997:09385377}, {PMID:Clavero 2004:15235904}, {OMIM232000:0001}" "" "1824IVS+3del4" "1/30 normally spliced mRNA" "Germline" "" "" "0" "" "" "g.100449309_100449312del" "" "pathogenic" "" "0000169474" "1" "90" "13" "101101504" "101101512" "del" "0" "00006" "PCCA_000005" "g.101101504_101101512del" "" "{PMID:Richard 1997:09385377}, {OMIM232000:0001}" "" "1771IVS-2del9" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.100449250_100449258del" "" "pathogenic" "" "0000169475" "1" "90" "13" "101101561" "101101562" "ins" "0" "00006" "PCCA_000006" "g.101101561_101101562insCT" "" "{PMID:Richard 1997:09385377}, {OMIM232000:0001}" "" "1824IVS+3insCT" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.100449307_100449308insCT" "" "pathogenic" "" "0000169476" "1" "90" "13" "100764143" "100764143" "subst" "8.14458E-6" "00006" "PCCA_000012" "g.100764143G>C" "" "{PMID:Desviat 2009:19157943}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.100111889G>C" "" "pathogenic" "" "0000169477" "1" "90" "13" "100764143" "100764143" "subst" "8.14458E-6" "00006" "PCCA_000012" "g.100764143G>C" "" "{PMID:Desviat 2009:19157943}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.100111889G>C" "" "pathogenic" "" "0000169478" "3" "90" "13" "100763477" "100768245" "del" "0" "00006" "PCCA_000013" "g.100763477_100768245del" "" "{PMID:Desviat 2009:19157943}" "" "184-558del4779" "4.8 Kb deletion" "Germline" "" "" "0" "" "" "g.100111223_100115991del" "" "pathogenic" "" "0000169479" "1" "90" "13" "100764094" "100764316" "del" "0" "00006" "PCCA_000010" "g.(100755215_100764094)_(100764316_100807232)del" "" "{PMID:Desviat 2009:19157943}" "" "" "4.8 Kb deletion, unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000169480" "3" "90" "13" "101179928" "101180007" "del" "0" "00006" "PCCA_000014" "g.(101167822_101179928)_(101180007_101182351)del" "" "{PMID:Desviat 2009:19157943}" "" "2041-2924del3889" "3.9 Kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000169481" "1" "90" "13" "101179928" "101180007" "del" "0" "00006" "PCCA_000014" "g.(101167822_101179928)_(101180007_101182351)del" "" "{PMID:Desviat 2009:19157943}" "" "" "3.9 Kb deletion, unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000169482" "3" "90" "13" "100763370" "100772239" "del" "0" "00006" "PCCA_000015" "g.100763370_100772239del" "" "{PMID:Desviat 2009:19157943}" "" "184-727del8860" "8.9 Kb deletion" "Germline" "" "" "0" "" "" "g.100111116_100119985del" "" "pathogenic" "" "0000169483" "1" "90" "13" "100741269" "100741480" "del" "0" "00006" "PCCA_000017" "g.(?_100741269)_(100741480_100755136)del" "" "{PMID:Desviat 2009:19157943}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000169484" "1" "90" "13" "100982814" "100992514" "del" "0" "00006" "PCCA_000018" "g.(100962163_100982814)_(100992514_101020725)del" "" "{PMID:Desviat 2009:19157943}" "" "c.1430-?_1643+?del" "mRNA analysis after culturing with emetine; unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000169485" "1" "90" "13" "100959445" "101020829" "del" "0" "00006" "PCCA_000019" "g.(100955253_100959445)_(101020829_101077886)del" "" "{PMID:Desviat 2009:19157943}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000169486" "1" "90" "13" "100953713" "101077986" "del" "0" "00006" "PCCA_000020" "g.(100925601_100953713)_(101077986_101101505)del" "" "{PMID:Desviat 2009:19157943}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000169487" "3" "90" "13" "100953713" "100955253" "del" "0" "00006" "PCCA_000016" "g.(100925601_100953713)_(100955253_100959445)del" "" "{PMID:Desviat 2009:19157943}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000169488" "2" "70" "13" "100992495" "100992498" "del" "0" "01968" "PCCA_000009" "g.100992495_100992498del" "" "{PMID:Desviat 2009:19157943}" "" "" "" "Germline" "" "" "0" "" "" "g.100340241_100340244del" "" "likely pathogenic" "" "0000169489" "2" "90" "13" "100764094" "100764316" "del" "0" "01968" "PCCA_000010" "g.(100755215_100764094)_(100764316_100807232)del" "" "{PMID:Desviat 2009:19157943}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000169490" "2" "70" "13" "100982862" "100982862" "del" "4.06858E-6" "01968" "PCCA_000011" "g.100982862del" "" "{PMID:Desviat 2009:19157943}" "" "" "" "Germline" "" "" "0" "" "" "g.100330608del" "" "likely pathogenic" "" "0000169491" "0" "50" "13" "100962156" "100962156" "subst" "0.0425141" "00006" "PCCA_000007" "g.100962156A>G" "" "" "" "" "" "Germline" "" "rs35719359" "0" "" "" "g.100309902A>G" "" "VUS" "" "0000169492" "0" "50" "13" "101020733" "101020733" "subst" "0.00803138" "00006" "PCCA_000008" "g.101020733G>T" "" "" "" "" "" "Germline" "" "rs61749895" "0" "" "" "g.100368479G>T" "" "VUS" "" "0000169493" "0" "90" "13" "100763477" "100768245" "del" "0" "00006" "PCCA_000013" "g.100763477_100768245del" "" "{PMID19157943:Desviat 2009}" "" "" "expression cloning, no enzyme activity" "In vitro (cloned)" "" "" "0" "" "" "g.100111223_100115991del" "" "NA" "" "0000247191" "0" "30" "13" "100962156" "100962156" "subst" "0.0425141" "02330" "PCCA_000007" "g.100962156A>G" "" "" "" "PCCA(NM_000282.4):c.1423A>G (p.I475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100309902A>G" "" "likely benign" "" "0000247195" "0" "10" "13" "100921056" "100921056" "subst" "0.981811" "02330" "PCCA_000027" "g.100921056A>G" "" "" "" "PCCA(NM_000282.4):c.914+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100268802A>G" "" "benign" "" "0000247197" "0" "10" "13" "100888122" "100888122" "subst" "0.147656" "02330" "PCCA_000034" "g.100888122A>G" "" "" "" "PCCA(NM_000282.4):c.627A>G (p.A209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100235868A>G" "" "benign" "" "0000247198" "0" "10" "13" "100962169" "100962169" "subst" "0.0159619" "02330" "PCCA_000037" "g.100962169A>G" "" "" "" "PCCA(NM_000282.4):c.1429+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100309915A>G" "" "benign" "" "0000247201" "0" "30" "13" "100953802" "100953802" "subst" "2.03155E-5" "02330" "PCCA_000028" "g.100953802A>G" "" "" "" "PCCA(NM_000282.4):c.1154A>G (p.K385R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100301548A>G" "" "likely benign" "" "0000247202" "0" "30" "13" "100959532" "100959532" "subst" "9.83018E-5" "02330" "PCCA_000030" "g.100959532A>G" "" "" "" "PCCA(NM_000282.4):c.1353+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100307278A>G" "" "likely benign" "" "0000247203" "0" "70" "13" "100915048" "100915048" "subst" "0" "02330" "PCCA_000035" "g.100915048A>G" "" "" "" "PCCA(NM_000282.4):c.782A>G (p.E261G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100262794A>G" "" "likely pathogenic" "" "0000248256" "0" "10" "13" "100962156" "100962156" "subst" "0.0425141" "02325" "PCCA_000007" "g.100962156A>G" "" "" "" "PCCA(NM_000282.4):c.1423A>G (p.I475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100309902A>G" "" "benign" "" "0000248447" "0" "10" "13" "100921056" "100921056" "subst" "0.981811" "02325" "PCCA_000027" "g.100921056A>G" "" "" "" "PCCA(NM_000282.4):c.914+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100268802A>G" "" "benign" "" "0000249393" "0" "30" "13" "101101556" "101101556" "subst" "0.000598251" "02325" "PCCA_000031" "g.101101556A>G" "" "" "" "PCCA(NM_000282.3):c.1896A>G (p.T632=), PCCA(NM_000282.4):c.1896A>G (p.T632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100449302A>G" "" "likely benign" "" "0000251702" "0" "30" "13" "100962156" "100962156" "subst" "0.0425141" "02326" "PCCA_000007" "g.100962156A>G" "" "" "" "PCCA(NM_000282.4):c.1423A>G (p.I475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100309902A>G" "" "likely benign" "" "0000251805" "0" "30" "13" "100955204" "100955204" "subst" "0.00250707" "02326" "PCCA_000029" "g.100955204A>G" "" "" "" "PCCA(NM_000282.3):c.1236A>G (p.P412=), PCCA(NM_000282.4):c.1236A>G (p.P412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100302950A>G" "" "likely benign" "" "0000293437" "0" "90" "13" "100982841" "100982841" "subst" "0" "02330" "PCCA_000038" "g.100982841C>T" "" "" "" "PCCA(NM_000282.4):c.1456C>T (p.R486*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100330587C>T" "" "pathogenic" "" "0000293438" "0" "10" "13" "100764078" "100764079" "del" "0" "02330" "PCCA_000024" "g.100764078_100764079del" "" "" "" "PCCA(NM_000282.4):c.184-17_184-16delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100111824_100111825del" "" "benign" "" "0000296779" "0" "50" "13" "100959450" "100959450" "subst" "4.48826E-5" "02325" "PCCA_000036" "g.100959450G>A" "" "" "" "PCCA(NM_000282.4):c.1289G>A (p.R430Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100307196G>A" "" "VUS" "" "0000296780" "0" "10" "13" "100764078" "100764079" "del" "0" "02325" "PCCA_000025" "g.100764078_100764079del" "" "" "" "PCCA(NM_000282.4):c.184-17_184-16delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100111824_100111825del" "" "benign" "" "0000296781" "0" "90" "13" "101167680" "101167680" "subst" "0" "02325" "PCCA_000032" "g.101167680G>A" "" "" "" "PCCA(NM_000282.4):c.1900-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100515426G>A" "" "pathogenic" "" "0000305068" "0" "30" "13" "100764113" "100764113" "subst" "4.07754E-6" "01943" "PCCA_000026" "g.100764113G>A" "" "" "" "PCCA(NM_000282.3):c.202G>A (p.V68I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100111859G>A" "" "likely benign" "" "0000350641" "0" "90" "13" "101182360" "101182360" "del" "0" "02327" "PCCA_000033" "g.101182360del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100530106del" "" "pathogenic" "" "0000549638" "0" "30" "13" "100741416" "100741416" "subst" "0.000216205" "02326" "A2LD1_000002" "g.100741416C>T" "" "" "" "PCCA(NM_000282.4):c.42C>T (p.A14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100089162C>T" "" "likely benign" "" "0000549639" "0" "10" "13" "100764078" "100764079" "del" "0" "02326" "PCCA_000024" "g.100764078_100764079del" "" "" "" "PCCA(NM_000282.4):c.184-17_184-16delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100111824_100111825del" "" "benign" "" "0000549640" "0" "30" "13" "100764189" "100764192" "del" "0" "02326" "A2LD1_000003" "g.100764189_100764192del" "" "" "" "PCCA(NM_000282.4):c.231+47_231+50delTATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100111935_100111938del" "" "likely benign" "" "0000549641" "0" "10" "13" "100888122" "100888122" "subst" "0.147656" "02327" "PCCA_000034" "g.100888122A>G" "" "" "" "PCCA(NM_000282.4):c.627A>G (p.A209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100235868A>G" "" "benign" "" "0000549643" "0" "30" "13" "100920993" "100920993" "subst" "7.72125E-5" "02326" "A2LD1_000005" "g.100920993C>T" "" "" "" "PCCA(NM_000282.4):c.870C>T (p.C290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100268739C>T" "" "likely benign" "" "0000549644" "0" "10" "13" "100921056" "100921056" "subst" "0.981811" "02327" "PCCA_000027" "g.100921056A>G" "" "" "" "PCCA(NM_000282.4):c.914+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100268802A>G" "" "benign" "" "0000549645" "0" "90" "13" "100925458" "100925458" "dup" "0" "01943" "A2LD1_000006" "g.100925458dup" "" "" "" "PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273204dup" "" "pathogenic" "" "0000549646" "0" "90" "13" "100925458" "100925458" "dup" "0" "02325" "A2LD1_000006" "g.100925458dup" "" "" "" "PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273204dup" "" "pathogenic" "" "0000549647" "0" "30" "13" "100925464" "100925464" "subst" "0.000723654" "01943" "A2LD1_000007" "g.100925464C>G" "" "" "" "PCCA(NM_000282.3):c.929C>G (p.A310G), PCCA(NM_000282.4):c.929C>G (p.(Ala310Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273210C>G" "" "likely benign" "" "0000549648" "0" "30" "13" "100925605" "100925605" "subst" "0.000829316" "01943" "A2LD1_000008" "g.100925605C>T" "" "" "" "PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273351C>T" "" "likely benign" "" "0000549649" "0" "30" "13" "100953862" "100953862" "subst" "0" "01943" "A2LD1_000009" "g.100953862A>G" "" "" "" "PCCA(NM_000282.3):c.1209+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100301608A>G" "" "likely benign" "" "0000549650" "0" "30" "13" "100955225" "100955225" "subst" "0.000471357" "02326" "A2LD1_000010" "g.100955225G>A" "" "" "" "PCCA(NM_000282.4):c.1257G>A (p.Q419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100302971G>A" "" "likely benign" "" "0000549651" "0" "10" "13" "100955268" "100955268" "subst" "0.00441424" "02330" "A2LD1_000011" "g.100955268G>A" "" "" "" "PCCA(NM_000282.4):c.1284+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100303014G>A" "" "benign" "" "0000549652" "0" "50" "13" "100959450" "100959450" "subst" "4.48826E-5" "02327" "PCCA_000036" "g.100959450G>A" "" "" "" "PCCA(NM_000282.4):c.1289G>A (p.R430Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100307196G>A" "" "VUS" "" "0000549655" "0" "10" "13" "101020733" "101020733" "subst" "0.00803138" "02330" "PCCA_000008" "g.101020733G>T" "" "" "" "PCCA(NM_000282.4):c.1651G>T (p.V551F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100368479G>T" "" "benign" "" "0000549656" "0" "10" "13" "101101497" "101101497" "subst" "0.00157705" "02330" "A2LD1_000013" "g.101101497G>T" "" "" "" "PCCA(NM_000282.4):c.1846-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100449243G>T" "" "benign" "" "0000549657" "0" "30" "13" "101101510" "101101510" "subst" "0.00101192" "01804" "A2LD1_000014" "g.101101510T>C" "" "" "" "PCCA(NM_000282.3):c.1850T>C (p.(Leu617Pro)), PCCA(NM_000282.4):c.1850T>C (p.L617P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100449256T>C" "" "likely benign" "" "0000549658" "0" "50" "13" "101101556" "101101556" "subst" "0.000598251" "01943" "PCCA_000031" "g.101101556A>G" "" "" "" "PCCA(NM_000282.3):c.1896A>G (p.T632=), PCCA(NM_000282.4):c.1896A>G (p.T632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100449302A>G" "" "VUS" "" "0000549659" "0" "30" "13" "101167776" "101167776" "subst" "8.12282E-6" "02326" "A2LD1_000015" "g.101167776G>A" "" "" "" "PCCA(NM_000282.4):c.1995G>A (p.P665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100515522G>A" "" "likely benign" "" "0000549660" "0" "30" "13" "101167798" "101167798" "subst" "0.0025074" "02326" "A2LD1_000016" "g.101167798G>C" "" "" "" "PCCA(NM_000282.4):c.2017G>C (p.V673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100515544G>C" "" "likely benign" "" "0000549661" "0" "30" "13" "101182405" "101182405" "subst" "0.00105615" "02330" "A2LD1_000017" "g.101182405C>T" "" "" "" "PCCA(NM_000282.3):c.2172C>T (p.L724=), PCCA(NM_000282.4):c.2172C>T (p.L724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100530151C>T" "" "likely benign" "" "0000549662" "0" "30" "13" "101182405" "101182405" "subst" "0.00105615" "01943" "A2LD1_000017" "g.101182405C>T" "" "" "" "PCCA(NM_000282.3):c.2172C>T (p.L724=), PCCA(NM_000282.4):c.2172C>T (p.L724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100530151C>T" "" "likely benign" "" "0000614461" "0" "50" "13" "100764314" "100764314" "subst" "0" "01943" "A2LD1_000018" "g.100764314C>T" "" "" "" "PCCA(NM_000282.3):c.299C>T (p.S100F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100112060C>T" "" "VUS" "" "0000614462" "0" "50" "13" "100861643" "100861643" "subst" "4.06243E-6" "02327" "A2LD1_000019" "g.100861643G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100209389G>A" "" "VUS" "" "0000614463" "0" "50" "13" "100915008" "100915008" "subst" "0" "02327" "A2LD1_000020" "g.100915008G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100262754G>A" "" "VUS" "" "0000614464" "0" "70" "13" "100953786" "100953786" "dup" "0" "02327" "A2LD1_000021" "g.100953786dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100301532dup" "" "likely pathogenic" "" "0000614465" "0" "50" "13" "100953808" "100953808" "subst" "4.06296E-6" "02327" "A2LD1_000022" "g.100953808C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100301554C>G" "" "VUS" "" "0000623008" "0" "30" "13" "100925605" "100925605" "subst" "0.000829316" "02326" "A2LD1_000008" "g.100925605C>T" "" "" "" "PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273351C>T" "" "likely benign" "" "0000623010" "0" "30" "13" "101020840" "101020840" "subst" "4.0665E-6" "02326" "A2LD1_000024" "g.101020840T>C" "" "" "" "PCCA(NM_000282.4):c.1746+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100368586T>C" "" "likely benign" "" "0000648683" "1" "50" "13" "100755176" "100755176" "subst" "0.000621668" "03575" "PCCA_000040" "g.100755176C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs148651921}" "Germline" "" "rs148651921" "0" "" "" "g.100102922C>T" "" "VUS" "" "0000648684" "1" "90" "13" "100809551" "100809551" "subst" "0" "03575" "PCCA_000021" "g.100809551G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796052019}" "Germline" "" "rs796052019" "0" "" "" "g.100157297G>A" "" "pathogenic" "" "0000648685" "1" "70" "13" "100809563" "100809563" "subst" "1.21953E-5" "03575" "PCCA_000041" "g.100809563T>C" "1/2772 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs774457925}" "Germline" "" "rs774457925" "0" "" "" "g.100157309T>C" "" "likely pathogenic" "" "0000648686" "1" "90" "13" "100925472" "100925472" "subst" "3.25148E-5" "03575" "PCCA_000042" "g.100925472C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs138149179}" "Germline" "" "rs138149179" "0" "" "" "g.100273218C>T" "" "pathogenic" "" "0000653346" "11" "90" "13" "101167783" "101167783" "subst" "1.21858E-5" "03619" "PCCA_000039" "g.101167783G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100515529G>A" "" "pathogenic (recessive)" "" "0000653347" "21" "70" "13" "100959449" "100959449" "subst" "4.08027E-6" "03619" "PCCA_000043" "g.100959449C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100307195C>T" "" "pathogenic (recessive)" "" "0000653348" "3" "90" "13" "100962159" "100962159" "subst" "4.06286E-6" "03619" "PCCA_000044" "g.100962159C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100309905C>T" "" "pathogenic (recessive)" "" "0000657223" "0" "30" "13" "100741410" "100741410" "subst" "0.000183259" "01943" "A2LD1_000025" "g.100741410C>T" "" "" "" "PCCA(NM_000282.3):c.36C>T (p.V12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100089156C>T" "" "likely benign" "" "0000657224" "0" "30" "13" "100925605" "100925605" "subst" "0.000829316" "02325" "A2LD1_000008" "g.100925605C>T" "" "" "" "PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273351C>T" "" "likely benign" "" "0000657225" "0" "50" "13" "100953816" "100953816" "subst" "5.28198E-5" "02325" "A2LD1_000026" "g.100953816C>T" "" "" "" "PCCA(NM_000282.4):c.1168C>T (p.R390C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100301562C>T" "" "VUS" "" "0000674654" "1" "70" "13" "101179928" "101179928" "subst" "4.06098E-6" "01941" "PCCA_000045" "g.101179928G>T" "" "{PMID:Neumann 2021:34734058}" "CviAII+, FatI+, NlaIII+, BstNI-" "" "predicts abolished recognition natural splice acceptor site; identified in heterozygous state in an apparently non-consanguineous couple with the antecedent of a deceased newborn with propionic acidemia diagnosis." "Germline" "?" "rs1367867218" "0" "" "" "g.100527674G>T" "{CV-RCV:000802701.1}" "pathogenic (recessive)" "ACMG" "0000679702" "0" "50" "13" "100982911" "100982911" "subst" "0" "01804" "A2LD1_000027" "g.100982911C>T" "" "" "" "PCCA(NM_000282.3):c.1526C>T (p.(Pro509Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684790" "0" "30" "13" "101020758" "101020758" "subst" "0.00285689" "00004" "PCCA_000046" "g.101020758G>T" "frequency 0.015" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.100368504G>T" "" "likely benign" "" "0000691455" "0" "50" "13" "100925572" "100925572" "subst" "4.06365E-6" "02325" "A2LD1_000028" "g.100925572A>G" "" "" "" "PCCA(NM_000282.4):c.1037A>G (p.Y346C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691456" "0" "50" "13" "101167813" "101167813" "subst" "0" "01943" "A2LD1_000029" "g.101167813G>A" "" "" "" "PCCA(NM_000282.3):c.2032G>A (p.G678R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691457" "0" "30" "13" "101167832" "101167832" "dup" "0" "02326" "A2LD1_000030" "g.101167832dup" "" "" "" "PCCA(NM_000282.3):c.2040+11dupT, PCCA(NM_000282.4):c.2040+11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724318" "0" "90" "13" "100741481" "100741481" "subst" "0" "01943" "A2LD1_000031" "g.100741481T>G" "" "" "" "PCCA(NM_000282.3):c.105+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724319" "0" "50" "13" "100959469" "100959469" "subst" "0" "01943" "A2LD1_000032" "g.100959469A>C" "" "" "" "PCCA(NM_000282.3):c.1308A>C (p.Q436H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724320" "0" "70" "13" "100962142" "100962142" "subst" "0" "02329" "A2LD1_000023" "g.100962142T>G" "" "" "" "PCCA(NM_000282.4):c.1409T>G (p.L470R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724321" "0" "30" "13" "100992428" "100992428" "subst" "0.000357825" "01943" "A2LD1_000033" "g.100992428A>T" "" "" "" "PCCA(NM_000282.3):c.1558A>T (p.S520C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724322" "0" "30" "13" "101167832" "101167832" "dup" "0" "01943" "A2LD1_000030" "g.101167832dup" "" "" "" "PCCA(NM_000282.3):c.2040+11dupT, PCCA(NM_000282.4):c.2040+11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000795660" "3" "70" "13" "100953860" "100953860" "subst" "4.06223E-6" "00000" "PCCA_000047" "g.100953860A>G" "" "{PMID:Nair 2018:30293248}" "" "NM_000282.3:c.1209+3A>G;" "" "Unknown" "?" "" "0" "" "" "g.100301606A>G" "" "likely pathogenic" "" "0000805991" "0" "30" "13" "100861586" "100861586" "subst" "1.21881E-5" "01943" "A2LD1_000034" "g.100861586G>T" "" "" "" "PCCA(NM_000282.3):c.469G>T (p.A157S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805992" "0" "50" "13" "101167774" "101167774" "subst" "0" "01943" "A2LD1_000035" "g.101167774C>T" "" "" "" "PCCA(NM_000282.3):c.1993C>T (p.P665S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863165" "0" "30" "13" "100955204" "100955204" "subst" "0.00250707" "01943" "PCCA_000029" "g.100955204A>G" "" "" "" "PCCA(NM_000282.3):c.1236A>G (p.P412=), PCCA(NM_000282.4):c.1236A>G (p.P412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890853" "0" "10" "13" "100955268" "100955268" "subst" "0.00441424" "02326" "A2LD1_000011" "g.100955268G>A" "" "" "" "PCCA(NM_000282.4):c.1284+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890854" "0" "30" "13" "101077892" "101077892" "subst" "0" "02326" "A2LD1_000037" "g.101077892A>T" "" "" "" "PCCA(NM_000282.4):c.1752A>T (p.E584D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913971" "0" "30" "13" "100888084" "100888084" "subst" "0" "02326" "A2LD1_000038" "g.100888084C>T" "" "" "" "PCCA(NM_000282.4):c.601-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913972" "0" "30" "13" "100992463" "100992463" "subst" "0" "02326" "A2LD1_000039" "g.100992463A>G" "" "" "" "PCCA(NM_000282.4):c.1593A>G (p.S531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925710" "0" "90" "13" "100925458" "100925458" "dup" "0" "02326" "A2LD1_000006" "g.100925458dup" "" "" "" "PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925711" "0" "30" "13" "101101510" "101101510" "subst" "0.00101192" "02326" "A2LD1_000014" "g.101101510T>C" "" "" "" "PCCA(NM_000282.3):c.1850T>C (p.(Leu617Pro)), PCCA(NM_000282.4):c.1850T>C (p.L617P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925712" "0" "30" "13" "101101556" "101101556" "subst" "0.000598251" "02326" "PCCA_000031" "g.101101556A>G" "" "" "" "PCCA(NM_000282.3):c.1896A>G (p.T632=), PCCA(NM_000282.4):c.1896A>G (p.T632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930164" "0" "30" "13" "100959530" "100959530" "subst" "4.09464E-6" "02326" "A2LD1_000040" "g.100959530C>T" "" "" "" "PCCA(NM_000282.4):c.1353+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933607" "0" "70" "13" "100764317" "100764317" "dup" "0" "03779" "PCCA_000048" "g.100764317dup" "" "" "" "" "" "Unknown" "" "rs2048370100" "0" "" "" "" "" "likely pathogenic" "" "0000980527" "0" "50" "13" "100764322" "100764322" "subst" "4.07461E-6" "01804" "A2LD1_000041" "g.100764322A>G" "" "" "" "PCCA(NM_000282.4):c.300+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980528" "0" "50" "13" "101179957" "101179957" "subst" "2.03047E-5" "01804" "A2LD1_000042" "g.101179957T>C" "" "" "" "PCCA(NM_000282.4):c.2069T>C (p.(Ile690Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000988628" "1" "70" "13" "100764140" "100764140" "subst" "2.03717E-5" "00006" "PCCA_000049" "g.100764140C>T" "1/2 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.100111886C>T" "" "likely pathogenic" "" "0000988632" "2" "70" "13" "101167783" "101167783" "subst" "1.21858E-5" "00006" "PCCA_000039" "g.101167783G>A" "1/2 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.100515529G>A" "" "likely pathogenic" "" "0001000390" "0" "90" "13" "100921016" "100921016" "subst" "4.06583E-6" "01804" "A2LD1_000043" "g.100921016A>G" "" "" "" "PCCA(NM_000282.3):c.893A>G (p.(Lys298Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015024" "0" "90" "13" "100925472" "100925472" "subst" "3.25148E-5" "02327" "PCCA_000042" "g.100925472C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001030163" "3" "70" "13" "100909887" "100909887" "subst" "0" "04221" "PCCA_000052" "g.100909887G>A" "2/28 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100257633G>A" "" "likely pathogenic (recessive)" "ACMG" "0001030164" "0" "90" "13" "100915000" "100915000" "subst" "0" "04221" "PCCA_000051" "g.100915000C>A" "1/28 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100262746C>A" "" "pathogenic (recessive)" "ACMG" "0001030165" "0" "90" "13" "101101515" "101101515" "subst" "6.84378E-6" "04221" "PCCA_000050" "g.101101515C>T" "1/28 patients" "" "" "" "" "Germline" "yes" "rs1194679272" "0" "" "" "g.100449261C>T" "{CV:553941}" "pathogenic (recessive)" "ACMG" "0001030178" "3" "90" "13" "100741365" "100741490" "del" "0" "04221" "PCCA_000053" "g.100741365_100741490del" "2/28 patients" "" "" "" "minimum deletion size: 126bp" "Germline" "yes" "" "0" "" "" "g.100089111_100089236del" "" "pathogenic (recessive)" "ACMG" "0001030192" "1" "90" "13" "100953843" "100953843" "subst" "8.12605E-6" "04221" "PCCA_000054" "g.100953843C>T" "1/28 patients" "" "" "" "" "Germline" "yes" "rs1234167788" "0" "" "" "g.100301589C>T" "{CV:2772}" "pathogenic (recessive)" "ACMG" "0001030193" "2" "90" "13" "101077877" "101182431" "del" "0" "04221" "PCCA_000056" "g.(?_101077877)_(101182431_?)del" "1/28 patients" "" "" "" "minimum deletion size: 104.6kb" "Germline" "yes" "" "0" "" "" "g.(?_100425623)_(100530177_?)del" "" "pathogenic (recessive)" "ACMG" "0001030194" "3" "70" "13" "100992516" "100992516" "subst" "0" "04221" "PCCA_000055" "g.100992516A>G" "2/28 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100340262A>G" "" "VUS" "ACMG" "0001039538" "0" "50" "13" "100807260" "100807260" "subst" "0.000166491" "01804" "A2LD1_000044" "g.100807260G>C" "" "" "" "PCCA(NM_000282.4):c.328G>C (p.(Val110Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039539" "0" "50" "13" "100925464" "100925464" "subst" "0.000723654" "01804" "A2LD1_000007" "g.100925464C>G" "" "" "" "PCCA(NM_000282.3):c.929C>G (p.A310G), PCCA(NM_000282.4):c.929C>G (p.(Ala310Gly))" "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 PCCA ## Count = 124 "{{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}}" "0000130207" "00015732" "90" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Gly142Asp)" "6" "0000169463" "00015732" "70" "2127" "0" "2127" "0" "c.2127del" "r.(?)" "p.(Val710Cysfs*43)" "24" "0000169464" "00015732" "70" "1955" "0" "2008" "0" "c.1955_2008dup" "r.(?)" "p.(Glu652_Val669dup)" "22" "0000169470" "00015732" "70" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Gln371*)" "13" "0000169471" "00015732" "70" "1140" "0" "1140" "0" "c.1140C>A" "r.(?)" "p.(Tyr380*)" "13" "0000169472" "00015732" "70" "1831" "0" "1831" "0" "c.1831C>T" "r.1831c>u" "p.Gln611*" "20" "0000169473" "00015732" "90" "1899" "4" "1899" "7" "c.1899+4_1899+7del" "r.1846_1899del" "p.Cys616_Val633" "21i" "0000169474" "00015732" "90" "1846" "-2" "1852" "0" "c.1846-2_1852del" "r.1846_1899del" "p.Cys616_Val633" "20i_20" "0000169475" "00015732" "90" "1899" "2" "1899" "3" "c.1899+2_1899+3insCT" "r.1846_1899del" "p.Cys616_Val633" "21i" "0000169476" "00015732" "90" "231" "1" "231" "1" "c.231+1G>C" "r.184_300del" "p.Thr62_Ser100del" "2i_4i" "0000169477" "00015732" "90" "231" "1" "231" "1" "c.231+1G>C" "r.184_300del" "p.Thr62_Ser100del" "2i_4i" "0000169478" "00015732" "90" "184" "-618" "300" "3930" "c.184-618_300+3930del" "r.184_300del" "p.Thr62_Ser100del" "2i_4i" "0000169479" "00015732" "90" "184" "-1" "300" "1" "c.(183+1_184-1)_(300+1_301-1)del" "r.184_300del" "p.Thr62_Ser100del" "2i_4i" "0000169480" "00015732" "90" "2041" "-1" "2118" "1" "c.(2040+1_2041-1)_(2118+1_2119-1)del" "r.2041_2118del" "p.Val681_Ala706del" "22i_23i" "0000169481" "00015732" "90" "2041" "-1" "2118" "1" "c.(2040+1_2041-1)_(2118+1_2119-1)del" "r.2041_2118del" "p.Val681_Ala706del" "22i_23i" "0000169482" "00015732" "90" "184" "-725" "300" "7924" "c.184-725_300+7924del" "r.184_300del" "p.Thr62_Ser100del" "2i_4i" "0000169483" "00015732" "90" "-106" "0" "105" "1" "c.(?_-106)_(105+1_106-1)del" "r.0" "p.0" "_1_1i" "0000169484" "00015732" "90" "1432" "-1" "1643" "1" "c.(1431+1_1432-1)_(1643+1_1644-1)del" "r.1430_1643del" "p.Gly477Glufs*9" "16i_18i" "0000169485" "00015732" "90" "1285" "-1" "1746" "1" "c.(1284+1_1285-1)_(1746+1_1747-1)del" "r.1285_1746del" "p.Val429_Ser582" "14i_19i" "0000169486" "00015732" "90" "1066" "-1" "1845" "1" "c.(1065+1_1066-1)_(1845+1_1846-1)del" "r.1066_1845del" "p.Val356_Gln615del" "12i_20i" "0000169487" "00015732" "90" "1066" "-1" "1284" "1" "c.(1065+1_1066-1)_(1284+1_1285-1)del" "r.1066_1284del" "p.Val356_Gly428del" "12i_14i" "0000169488" "00015732" "70" "1625" "0" "1628" "0" "c.1625_1628del" "r.(?)" "p.(His542Leufs*14)" "18" "0000169489" "00015732" "90" "184" "-1" "300" "1" "c.(183+1_184-1)_(300+1_301-1)del" "r.(del)" "p.(Thr62_Ser100del)" "2i_4i" "0000169490" "00015732" "70" "1477" "0" "1477" "0" "c.1477del" "r.1477del" "p.Arg493Alafs*3" "17" "0000169491" "00015732" "50" "1423" "0" "1423" "0" "c.1423A>G" "r.(?)" "p.(Ile475Val)" "16" "0000169492" "00015732" "50" "1651" "0" "1651" "0" "c.1651G>T" "r.(?)" "p.(Val551Phe)" "19" "0000169493" "00015732" "90" "184" "-618" "300" "3930" "c.184-618_300+3930del" "r.?" "p.Thr62_Ser100del" "2i_4i" "0000247191" "00015732" "30" "1423" "0" "1423" "0" "c.1423A>G" "r.(?)" "p.(Ile475Val)" "" "0000247195" "00015732" "10" "914" "19" "914" "19" "c.914+19A>G" "r.(=)" "p.(=)" "" "0000247197" "00015732" "10" "627" "0" "627" "0" "c.627A>G" "r.(?)" "p.(Ala209=)" "" "0000247198" "00015732" "10" "1429" "7" "1429" "7" "c.1429+7A>G" "r.(=)" "p.(=)" "" "0000247201" "00015732" "30" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(Lys385Arg)" "" "0000247202" "00015732" "30" "1353" "18" "1353" "18" "c.1353+18A>G" "r.(=)" "p.(=)" "" "0000247203" "00015732" "70" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(Glu261Gly)" "" "0000248256" "00015732" "10" "1423" "0" "1423" "0" "c.1423A>G" "r.(?)" "p.(Ile475Val)" "" "0000248447" "00015732" "10" "914" "19" "914" "19" "c.914+19A>G" "r.(=)" "p.(=)" "" "0000249393" "00015732" "30" "1896" "0" "1896" "0" "c.1896A>G" "r.(?)" "p.(Thr632=)" "" "0000251702" "00015732" "30" "1423" "0" "1423" "0" "c.1423A>G" "r.(?)" "p.(Ile475Val)" "" "0000251805" "00015732" "30" "1236" "0" "1236" "0" "c.1236A>G" "r.(?)" "p.(Pro412=)" "" "0000293437" "00015732" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Ter)" "" "0000293438" "00015732" "10" "184" "-17" "184" "-16" "c.184-17_184-16del" "r.(=)" "p.(=)" "" "0000296779" "00015732" "50" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430Gln)" "" "0000296780" "00015732" "10" "184" "-17" "184" "-16" "c.184-17_184-16del" "r.(=)" "p.(=)" "" "0000296781" "00015732" "90" "1900" "-1" "1900" "-1" "c.1900-1G>A" "r.spl?" "p.?" "" "0000305068" "00015732" "30" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Val68Ile)" "" "0000350641" "00015732" "90" "2127" "0" "2127" "0" "c.2127del" "r.(?)" "p.(Val710CysfsTer43)" "" "0000549638" "00015732" "30" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(Ala14=)" "" "0000549639" "00015732" "10" "184" "-17" "184" "-16" "c.184-17_184-16del" "r.(=)" "p.(=)" "" "0000549640" "00015732" "30" "231" "47" "231" "50" "c.231+47_231+50del" "r.(=)" "p.(=)" "" "0000549641" "00015732" "10" "627" "0" "627" "0" "c.627A>G" "r.(?)" "p.(Ala209=)" "" "0000549643" "00015732" "30" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Cys290=)" "" "0000549644" "00015732" "10" "914" "19" "914" "19" "c.914+19A>G" "r.(=)" "p.(=)" "" "0000549645" "00015732" "90" "923" "0" "923" "0" "c.923dup" "r.(?)" "p.(Leu308PhefsTer35)" "" "0000549646" "00015732" "90" "923" "0" "923" "0" "c.923dup" "r.(?)" "p.(Leu308PhefsTer35)" "" "0000549647" "00015732" "30" "929" "0" "929" "0" "c.929C>G" "r.(?)" "p.(Ala310Gly)" "" "0000549648" "00015732" "30" "1065" "5" "1065" "5" "c.1065+5C>T" "r.spl?" "p.?" "" "0000549649" "00015732" "30" "1209" "5" "1209" "5" "c.1209+5A>G" "r.spl?" "p.?" "" "0000549650" "00015732" "30" "1257" "0" "1257" "0" "c.1257G>A" "r.(?)" "p.(Gln419=)" "" "0000549651" "00015732" "10" "1284" "16" "1284" "16" "c.1284+16G>A" "r.(=)" "p.(=)" "" "0000549652" "00015732" "50" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430Gln)" "" "0000549655" "00015732" "10" "1651" "0" "1651" "0" "c.1651G>T" "r.(?)" "p.(Val551Phe)" "" "0000549656" "00015732" "10" "1846" "-9" "1846" "-9" "c.1846-9G>T" "r.(=)" "p.(=)" "" "0000549657" "00015732" "30" "1850" "0" "1850" "0" "c.1850T>C" "r.(?)" "p.(Leu617Pro)" "" "0000549658" "00015732" "50" "1896" "0" "1896" "0" "c.1896A>G" "r.(?)" "p.(Thr632=)" "" "0000549659" "00015732" "30" "1995" "0" "1995" "0" "c.1995G>A" "r.(?)" "p.(Pro665=)" "" "0000549660" "00015732" "30" "2017" "0" "2017" "0" "c.2017G>C" "r.(?)" "p.(Val673Leu)" "" "0000549661" "00015732" "30" "2172" "0" "2172" "0" "c.2172C>T" "r.(?)" "p.(Leu724=)" "" "0000549662" "00015732" "30" "2172" "0" "2172" "0" "c.2172C>T" "r.(?)" "p.(Leu724=)" "" "0000614461" "00015732" "50" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Ser100Phe)" "" "0000614462" "00015732" "50" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Asp176Asn)" "" "0000614463" "00015732" "50" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Glu248Lys)" "" "0000614464" "00015732" "70" "1138" "0" "1138" "0" "c.1138dup" "r.(?)" "p.(Tyr380LeufsTer9)" "" "0000614465" "00015732" "50" "1160" "0" "1160" "0" "c.1160C>G" "r.(?)" "p.(Ala387Gly)" "" "0000623008" "00015732" "30" "1065" "5" "1065" "5" "c.1065+5C>T" "r.spl?" "p.?" "" "0000623010" "00015732" "30" "1746" "12" "1746" "12" "c.1746+12T>C" "r.(=)" "p.(=)" "" "0000648683" "00015732" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Cys)" "" "0000648684" "00015732" "90" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Gly142Asp)" "" "0000648685" "00015732" "70" "437" "0" "437" "0" "c.437T>C" "r.(?)" "p.(Leu146Pro)" "" "0000648686" "00015732" "90" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313*)" "" "0000653346" "00015732" "90" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Gly668Arg)" "22" "0000653347" "00015732" "70" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Arg430*)" "15" "0000653348" "00015732" "90" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476*)" "" "0000657223" "00015732" "30" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Val12=)" "" "0000657224" "00015732" "30" "1065" "5" "1065" "5" "c.1065+5C>T" "r.spl?" "p.?" "" "0000657225" "00015732" "50" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "" "0000674654" "00015732" "70" "2041" "-1" "2041" "-1" "c.2041-1G>T" "r.spl" "p.?" "22i" "0000679702" "00015732" "50" "1526" "0" "1526" "0" "c.1526C>T" "r.(?)" "p.(Pro509Leu)" "" "0000684790" "00015732" "30" "1676" "0" "1676" "0" "c.1676G>T" "r.(?)" "p.(Trp559Leu)" "" "0000691455" "00015732" "50" "1037" "0" "1037" "0" "c.1037A>G" "r.(?)" "p.(Tyr346Cys)" "" "0000691456" "00015732" "50" "2032" "0" "2032" "0" "c.2032G>A" "r.(?)" "p.(Gly678Arg)" "" "0000691457" "00015732" "30" "2040" "11" "2040" "11" "c.2040+11dup" "r.(=)" "p.(=)" "" "0000724318" "00015732" "90" "105" "2" "105" "2" "c.105+2T>G" "r.spl?" "p.?" "" "0000724319" "00015732" "50" "1308" "0" "1308" "0" "c.1308A>C" "r.(?)" "p.(Gln436His)" "" "0000724320" "00015732" "70" "1409" "0" "1409" "0" "c.1409T>G" "r.(?)" "p.(Leu470Arg)" "" "0000724321" "00015732" "30" "1558" "0" "1558" "0" "c.1558A>T" "r.(?)" "p.(Ser520Cys)" "" "0000724322" "00015732" "30" "2040" "11" "2040" "11" "c.2040+11dup" "r.(=)" "p.(=)" "" "0000795660" "00015732" "70" "1209" "3" "1209" "3" "c.1209+3A>G" "r.spl?" "p.(?)" "" "0000805991" "00015732" "30" "469" "0" "469" "0" "c.469G>T" "r.(?)" "p.(Ala157Ser)" "" "0000805992" "00015732" "50" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Pro665Ser)" "" "0000863165" "00015732" "30" "1236" "0" "1236" "0" "c.1236A>G" "r.(?)" "p.(Pro412=)" "" "0000890853" "00015732" "10" "1284" "16" "1284" "16" "c.1284+16G>A" "r.(=)" "p.(=)" "" "0000890854" "00015732" "30" "1752" "0" "1752" "0" "c.1752A>T" "r.(?)" "p.(Glu584Asp)" "" "0000913971" "00015732" "30" "601" "-12" "601" "-12" "c.601-12C>T" "r.(=)" "p.(=)" "" "0000913972" "00015732" "30" "1593" "0" "1593" "0" "c.1593A>G" "r.(?)" "p.(Ser531=)" "" "0000925710" "00015732" "90" "923" "0" "923" "0" "c.923dup" "r.(?)" "p.(Leu308PhefsTer35)" "" "0000925711" "00015732" "30" "1850" "0" "1850" "0" "c.1850T>C" "r.(?)" "p.(Leu617Pro)" "" "0000925712" "00015732" "30" "1896" "0" "1896" "0" "c.1896A>G" "r.(?)" "p.(Thr632=)" "" "0000930164" "00015732" "30" "1353" "16" "1353" "16" "c.1353+16C>T" "r.(=)" "p.(=)" "" "0000933607" "00015732" "70" "300" "2" "300" "2" "c.300+2dup" "r.(?)" "p.(?)" "" "0000980527" "00015732" "50" "300" "7" "300" "7" "c.300+7A>G" "r.(=)" "p.(=)" "" "0000980528" "00015732" "50" "2069" "0" "2069" "0" "c.2069T>C" "r.(?)" "p.(Ile690Thr)" "" "0000988628" "00015732" "70" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Trp)" "" "0000988632" "00015732" "70" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Gly668Arg)" "" "0001000390" "00015732" "90" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(Lys298Arg)" "" "0001015024" "00015732" "90" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313*)" "" "0001030163" "00015732" "70" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Gly226Arg)" "9" "0001030164" "00015732" "90" "734" "0" "734" "0" "c.734C>A" "r.(?)" "p.(Ser245*)" "10" "0001030165" "00015732" "90" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Arg619*)" "21" "0001030178" "00015732" "90" "-10" "0" "105" "11" "c.-10_105+11del" "r.?" "p.?" "1_1i" "0001030192" "00015732" "90" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399Trp)" "13" "0001030193" "00015732" "90" "1747" "-10" "2198" "0" "c.(?_1747-10)_(*11_?)del" "r.?" "p.?" "19i_24_" "0001030194" "00015732" "70" "1643" "3" "1643" "3" "c.1643+3A>G" "r.spl?" "p.?" "" "0001039538" "00015732" "50" "328" "0" "328" "0" "c.328G>C" "r.(?)" "p.(Val110Leu)" "" "0001039539" "00015732" "50" "929" "0" "929" "0" "c.929C>G" "r.(?)" "p.(Ala310Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000000029" "0000169491" "0000000030" "0000169492" "0000081121" "0000130207" "0000104520" "0000169463" "0000104520" "0000169464" "0000104525" "0000169470" "0000104525" "0000169488" "0000104526" "0000169471" "0000104526" "0000169489" "0000104527" "0000169472" "0000104527" "0000169490" "0000104528" "0000169473" "0000104529" "0000169474" "0000104530" "0000169475" "0000104531" "0000169476" "0000104532" "0000169477" "0000104533" "0000169478" "0000104534" "0000169479" "0000104535" "0000169480" "0000104536" "0000169481" "0000104537" "0000169482" "0000104538" "0000169483" "0000104539" "0000169484" "0000104540" "0000169485" "0000104541" "0000169486" "0000104542" "0000169487" "0000291994" "0000648683" "0000291995" "0000648684" "0000291996" "0000648685" "0000291997" "0000648686" "0000296657" "0000653346" "0000296657" "0000653347" "0000296658" "0000653348" "0000307850" "0000674654" "0000309888" "0000684790" "0000382026" "0000795660" "0000453866" "0000988628" "0000453866" "0000988632" "0000466254" "0001030163" "0000466255" "0001030164" "0000466255" "0001030165" "0000466259" "0001030178" "0000466271" "0001030192" "0000466271" "0001030193" "0000466272" "0001030194"