### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CPT2) # 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}}" "CPT2" "carnitine palmitoyltransferase 2" "1" "p32" "unknown" "NG_008035.1" "UD_132118798611" "" "http://www.LOVD.nl/CPT2" "" "1" "2330" "1376" "600650" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/CPT2_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2016-05-16 10:17:33" "00000" "2025-07-13 13:55:03" ## 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}}" "00000105" "CPT2" "carnitine palmitoyltransferase 2" "001" "NM_000098.2" "" "NP_000089.1" "" "" "" "-515" "2579" "1977" "53662101" "53679869" "00002" "2012-05-11 13:12:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01955" "-" "carnitine palmitoyltransferase II deficiency, late-onset" "AD;AR" "255110" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02308" "-" "CPT II deficiency, infantile" "AR" "600649" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02798" "-" "CPT II deficiency, lethal neonatal" "AR" "608836" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03583" "IIAE4" "encephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4)" "AD;AR" "614212" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-19 10:59:17" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CPT2" "01955" "CPT2" "02308" "CPT2" "02798" "CPT2" "03583" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00035446" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035447" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035448" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00064759" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y09m" "0" "" "" "Europe" "SIDS001" "00095882" "" "" "" "1" "" "01838" "" "" "" "" "" "" "0" "" "" "" "" "00265254" "" "" "" "1" "" "03426" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00274449" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "M" "" "Korea" "" "0" "" "" "" "Pat157" "00289877" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289878" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289879" "" "" "" "133" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289880" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289881" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301524" "" "" "" "2" "" "03678" "" "2 affected sisters" "F" "?" "Greece" "" "0" "" "" "" "" "00301525" "" "" "" "2" "" "03678" "" "2 affected siblings (1M, 1F)" "M" "no" "Greece" "17y" "0" "" "" "" "" "00304209" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314189" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314190" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00442770" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat142" "00457637" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat1" "00457638" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat2" "00457639" "" "" "" "1" "" "00006" "{PMID:Diekman 2014:24305961}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00035447" "00198" "00035448" "00198" "00064759" "02087" "00095882" "01955" "00265254" "01955" "00274449" "05121" "00289877" "00198" "00289878" "00198" "00289879" "00198" "00289880" "00198" "00289881" "00198" "00301524" "02308" "00301525" "02308" "00304209" "00198" "00314189" "05126" "00314190" "05126" "00442770" "05618" "00457637" "00198" "00457638" "00198" "00457639" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01955, 02087, 02308, 02798, 03583, 05121, 05126, 05618 ## Count = 12 "{{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}}" "0000050918" "02087" "00064759" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000078455" "01955" "00095882" "01838" "Familial, autosomal recessive" "" "carnitine palmitoyl transferase II deficiency myopathic form (CPT2, adult-onset form); rhabdomyolysis (HP:0003201)" "" "" "" "" "" "" "" "" "" "" "" "0000156178" "00198" "00035447" "01164" "Unknown" "" "suspected defect of CPT2, rhabdomyolysis, myalgias and weakness" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000156179" "00198" "00035448" "01164" "Unknown" "" "relapsing myalgias" "" "" "" "" "" "" "" "" "" "myalgia" "" "0000203075" "01955" "00265254" "03426" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000209392" "05121" "00274449" "00006" "Unknown" "" "Ankle dorsiflexor weakness; elevated CK (793 IU/L); no family history" "31y" "33y" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000228655" "02308" "00301524" "03678" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228656" "02308" "00301525" "03678" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000332117" "05618" "00442770" "00006" "Unknown" "" "Myopathy and cardiac conduction abormalites" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000346096" "00198" "00457637" "00006" "Familial, autosomal recessive" "43y" "see paper; ..., muscle pain (after exercise); normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "CPT2D" "long-chain fatty acid oxidation disorder" "" "0000346097" "00198" "00457638" "00006" "Familial, autosomal recessive" "48y" "see paper; ..., exercise intolerance, muscle pain (after exercise); normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "CPT2D" "long-chain fatty acid oxidation disorder" "" "0000346098" "00198" "00457639" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., exercise intolerance, muscle pain; normal muscle power during neurological exam" "" "" "" "" "" "" "" "" "CPT2D" "long-chain fatty acid oxidation disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035516" "00035446" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035517" "00035447" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035518" "00035448" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000064900" "00064759" "1" "01602" "01602" "2016-05-11 14:18:41" "01602" "2016-05-19 13:26:00" "SEQ-NG-I" "DNA" "" "" "0000096283" "00095882" "1" "01838" "01838" "2017-01-19 19:55:31" "" "" "SEQ" "DNA" "" "" "0000266373" "00265254" "1" "03426" "03426" "2019-09-18 10:00:57" "" "" "SEQ-NG-IT" "DNA" "" "" "0000275608" "00274449" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000291045" "00289877" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291046" "00289878" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291047" "00289879" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291048" "00289880" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291049" "00289881" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302649" "00301524" "1" "03678" "03678" "2020-05-18 16:10:14" "" "" "SEQ-NG" "DNA" "" "" "0000302650" "00301525" "1" "03678" "03678" "2020-05-18 16:30:53" "" "" "SEQ-NG" "DNA" "" "" "0000305338" "00304209" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315362" "00314189" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315363" "00314190" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444254" "00442770" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000459257" "00457637" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459258" "00457638" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" "0000459259" "00457639" "1" "00006" "00006" "2024-11-15 14:14:44" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000035516" "CPT2" "0000035517" "CPT2" "0000035518" "CPT2" "0000096283" "CPT2" "0000266373" "CPT2" "0000275608" "CPT2" "0000302649" "CPT2" "0000302650" "CPT2" "0000315362" "CPT2" "0000315363" "CPT2" "0000459257" "CPT2" "0000459258" "CPT2" "0000459259" "CPT2" ## 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 = 93 "{{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}}" "0000062635" "1" "50" "1" "53676782" "53676782" "subst" "4.06736E-5" "01164" "CPT2_000002" "g.53676782A>T" "" "" "" "" "Polyphen: benign; SIFT, MutationTaster: path." "Germline" "" "" "0" "" "" "g.53211110A>T" "" "VUS" "" "0000062636" "1" "90" "1" "53675880" "53675904" "delins" "0" "01164" "CPT2_000001" "g.53675880_53675904delinsT" "" "" "" "" "c.338C>T, p.(Ser113Leu)" "Germline" "" "" "0" "" "" "g.53210208_53210232delinsT" "" "pathogenic" "" "0000062637" "1" "10" "1" "53662823" "53662823" "subst" "0" "01164" "CPT2_000003" "g.53662823C>A" "" "" "" "" "" "Germline" "" "rs72673121" "0" "" "" "g.53197151C>A" "" "benign" "" "0000096555" "0" "50" "1" "53676980" "53676980" "subst" "0.000833209" "01602" "CPT2_000004" "g.53676980A>C" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Unknown" "?" "rs17848485" "0" "" "" "g.53211308A>C" "" "VUS" "" "0000158310" "11" "70" "1" "53676463" "53676463" "subst" "0" "01838" "CPT2_000005" "g.53676463T>C" "" "" "" "" "SIFT: deleteterious, mutation taster: disease causing, Polyphen: probably damaging" "Germline" "" "" "0" "" "" "g.53210791T>C" "" "likely pathogenic" "" "0000251921" "0" "30" "1" "53676265" "53676265" "subst" "0" "02326" "CPT2_000008" "g.53676265A>C" "" "" "" "CPT2(NM_000098.3):c.919A>C (p.M307L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53210593A>C" "" "likely benign" "" "0000267116" "0" "10" "1" "53676401" "53676401" "subst" "0.0228082" "02325" "CPT2_000009" "g.53676401T>G" "" "" "" "CPT2(NM_000098.2):c.1055T>G (p.(Phe352Cys)), CPT2(NM_000098.3):c.1055T>G (p.F352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53210729T>G" "" "benign" "" "0000267117" "0" "10" "1" "53676448" "53676448" "subst" "0.486936" "02325" "CPT2_000010" "g.53676448G>A" "" "" "" "CPT2(NM_000098.3):c.1102G>A (p.V368I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53210776G>A" "" "benign" "" "0000270576" "0" "90" "1" "53676688" "53676688" "subst" "0.000211236" "02326" "CPT2_000011" "g.53676688T>C" "" "" "" "CPT2(NM_000098.3):c.1342T>C (p.F448L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53211016T>C" "" "pathogenic" "" "0000270577" "0" "30" "1" "53676948" "53676948" "subst" "0.00028015" "02326" "CPT2_000012" "g.53676948G>A" "" "" "" "CPT2(NM_000098.2):c.1602G>A (p.E534=), CPT2(NM_000098.3):c.1602G>A (p.E534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53211276G>A" "" "likely benign" "" "0000270578" "0" "10" "1" "53679096" "53679096" "subst" "0.00263126" "02326" "CPT2_000013" "g.53679096T>C" "" "" "" "CPT2(NM_000098.2):c.1806T>C (p.F602=), CPT2(NM_000098.3):c.1806T>C (p.F602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53213424T>C" "" "benign" "" "0000270579" "0" "10" "1" "53667897" "53667897" "subst" "0" "02326" "CPT2_000006" "g.53667897T>G" "" "" "" "CPT2(NM_000098.3):c.234-98T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53202225T>G" "" "benign" "" "0000270580" "0" "70" "1" "53675923" "53675923" "subst" "0.000361492" "02326" "CPT2_000007" "g.53675923C>T" "" "" "" "CPT2(NM_000098.3):c.577C>T (p.R193C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53210251C>T" "" "likely pathogenic" "" "0000350513" "0" "10" "1" "53676448" "53676448" "subst" "0.486936" "02327" "CPT2_000010" "g.53676448G>A" "" "" "" "CPT2(NM_000098.3):c.1102G>A (p.V368I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53210776G>A" "" "benign" "" "0000507823" "0" "50" "1" "53667997" "53667997" "subst" "0.000280242" "01943" "CPT2_000014" "g.53667997A>C" "" "" "" "CPT2(NM_000098.2):c.236A>C (p.K79T), CPT2(NM_000098.3):c.236A>C (p.K79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53202325A>C" "" "VUS" "" "0000507824" "0" "30" "1" "53667997" "53667997" "subst" "0.000280242" "02326" "CPT2_000014" "g.53667997A>C" "" "" "" "CPT2(NM_000098.2):c.236A>C (p.K79T), CPT2(NM_000098.3):c.236A>C (p.K79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53202325A>C" "" "likely benign" "" "0000507825" "0" "90" "1" "53668099" "53668099" "subst" "0.00138493" "02327" "CPT2_000015" "g.53668099C>T" "" "" "" "CPT2(NM_000098.3):c.338C>T (p.(Ser113Leu), p.S113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53202427C>T" "" "pathogenic" "" "0000507826" "0" "90" "1" "53675716" "53675716" "subst" "8.12189E-6" "02327" "CPT2_000016" "g.53675716C>T" "" "" "" "CPT2(NM_000098.3):c.370C>T (p.R124*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53210044C>T" "" "pathogenic" "" "0000507827" "0" "90" "1" "53675797" "53675797" "subst" "2.03042E-5" "02327" "CPT2_000017" "g.53675797C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53210125C>T" "" "pathogenic" "" "0000507829" "0" "70" "1" "53675923" "53675923" "subst" "0.000361492" "02325" "CPT2_000007" "g.53675923C>T" "" "" "" "CPT2(NM_000098.3):c.577C>T (p.R193C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53210251C>T" "" "likely pathogenic" "" "0000507830" "0" "50" "1" "53676101" "53676101" "subst" "4.06564E-6" "02329" "CPT2_000019" "g.53676101A>G" "" "" "" "CPT2(NM_000098.2):c.755A>G (p.Y252C), CPT2(NM_000098.3):c.755A>G (p.(Tyr252Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53210429A>G" "" "VUS" "" "0000507831" "0" "30" "1" "53676948" "53676948" "subst" "0.00028015" "01943" "CPT2_000012" "g.53676948G>A" "" "" "" "CPT2(NM_000098.2):c.1602G>A (p.E534=), CPT2(NM_000098.3):c.1602G>A (p.E534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53211276G>A" "" "likely benign" "" "0000507833" "0" "10" "1" "53679229" "53679229" "subst" "0.163758" "02327" "CPT2_000021" "g.53679229A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53213557A>G" "" "benign" "" "0000597033" "1" "70" "1" "53679101" "53679102" "del" "0" "03426" "CPT2_000022" "g.53679101_53679102del" "" "" "" "1811_1812delCT" "" "Germline" "" "" "0" "" "" "g.53213429_53213430del" "" "likely pathogenic" "" "0000597037" "2" "90" "1" "53668099" "53668099" "subst" "0.00138493" "03426" "CPT2_000015" "g.53668099C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53202427C>T" "" "pathogenic (recessive)" "" "0000605824" "0" "30" "1" "53662774" "53662774" "subst" "0" "02327" "CPT2_000023" "g.53662774C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53197102C>T" "" "likely benign" "" "0000605826" "0" "90" "1" "53675716" "53675716" "subst" "8.12189E-6" "02325" "CPT2_000016" "g.53675716C>T" "" "" "" "CPT2(NM_000098.3):c.370C>T (p.R124*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53210044C>T" "" "pathogenic" "" "0000605827" "0" "50" "1" "53676258" "53676258" "subst" "6.90524E-5" "02326" "CPT2_000024" "g.53676258G>T" "" "" "" "CPT2(NM_000098.3):c.912G>T (p.Q304H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53210586G>T" "" "VUS" "" "0000605828" "0" "70" "1" "53676394" "53676394" "subst" "0.000252106" "02327" "CPT2_000025" "g.53676394C>T" "" "" "" "CPT2(NM_000098.3):c.1048C>T (p.R350C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53210722C>T" "" "likely pathogenic" "" "0000605829" "0" "50" "1" "53676578" "53676578" "subst" "5.68639E-5" "02327" "CPT2_000026" "g.53676578C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53210906C>T" "" "VUS" "" "0000605831" "0" "10" "1" "53676865" "53676865" "subst" "0.000186389" "02326" "CPT2_000029" "g.53676865G>A" "" "" "" "CPT2(NM_000098.3):c.1519G>A (p.V507I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53211193G>A" "" "benign" "" "0000605832" "0" "30" "1" "53679066" "53679066" "subst" "6.90316E-5" "02326" "CPT2_000030" "g.53679066G>A" "" "" "" "CPT2(NM_000098.3):c.1776G>A (p.L592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53213394G>A" "" "likely benign" "" "0000620658" "0" "50" "1" "53676782" "53676782" "subst" "1.22021E-5" "01943" "CPT2_000027" "g.53676782A>G" "" "" "" "CPT2(NM_000098.2):c.1436A>G (p.Y479C), CPT2(NM_000098.3):c.1436A>G (p.(Tyr479Cys), p.Y479C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53211110A>G" "" "VUS" "" "0000629672" "1" "70" "1" "53676494" "53676494" "subst" "2.4374E-5" "00006" "CPT2_000031" "g.53676494T>A" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "variant not associated with phenotype" "Germline" "" "" "0" "" "" "g.53210822T>A" "" "likely pathogenic (recessive)" "" "0000647734" "1" "50" "1" "53668099" "53668099" "subst" "0.00138493" "03575" "CPT2_000015" "g.53668099C>T" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs74315294}" "Germline" "" "rs74315294" "0" "" "" "g.53202427C>T" "" "VUS" "" "0000647735" "1" "70" "1" "53676232" "53676232" "subst" "2.43797E-5" "03575" "CPT2_000032" "g.53676232C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727503887}" "Germline" "" "rs727503887" "0" "" "" "g.53210560C>T" "" "likely pathogenic" "" "0000647736" "1" "30" "1" "53676401" "53676401" "subst" "0.0228082" "03575" "CPT2_000009" "g.53676401T>G" "133/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "133 heterozygous; {DB:CLININrs2229291}" "Germline" "" "rs2229291" "0" "" "" "g.53210729T>G" "" "likely benign" "" "0000647737" "1" "50" "1" "53676980" "53676980" "subst" "0.000833209" "03575" "CPT2_000004" "g.53676980A>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs17848485}" "Germline" "" "rs17848485" "0" "" "" "g.53211308A>C" "" "VUS" "" "0000647738" "1" "50" "1" "53678947" "53678947" "subst" "8.132E-6" "03575" "CPT2_000033" "g.53678947G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28936376}" "Germline" "" "rs28936376" "0" "" "" "g.53213275G>A" "" "VUS" "" "0000654064" "0" "30" "1" "53676035" "53676035" "subst" "0" "01943" "CPT2_000034" "g.53676035G>T" "" "" "" "CPT2(NM_000098.2):c.689G>T (p.S230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53210363G>T" "" "likely benign" "" "0000654065" "0" "50" "1" "53676400" "53676400" "subst" "4.06504E-6" "02325" "CPT2_000035" "g.53676400T>C" "" "" "" "CPT2(NM_000098.3):c.1054T>C (p.F352L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53210728T>C" "" "VUS" "" "0000654066" "0" "50" "1" "53676980" "53676980" "subst" "0.000833209" "01943" "CPT2_000004" "g.53676980A>C" "" "" "" "CPT2(NM_000098.2):c.1634A>C (p.E545A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53211308A>C" "" "VUS" "" "0000654067" "0" "50" "1" "53679182" "53679182" "subst" "4.06197E-6" "02327" "CPT2_000036" "g.53679182G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53213510G>A" "" "VUS" "" "0000665993" "3" "90" "1" "53668099" "53668099" "subst" "0.00138493" "03678" "CPT2_000015" "g.53668099C>T" "" "" "" "" "" "Germline" "" "rs74315294" "0" "" "" "g.53202427C>T" "" "pathogenic (recessive)" "" "0000665994" "3" "90" "1" "53668099" "53668099" "subst" "0.00138493" "03678" "CPT2_000015" "g.53668099C>T" "" "" "" "" "" "Germline" "" "rs74315294" "0" "" "" "g.53202427C>T" "" "pathogenic (recessive)" "" "0000669026" "3" "30" "1" "53676401" "53676401" "subst" "0.0228082" "03575" "CPT2_000009" "g.53676401T>G" "17/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 homozygous; {DB:CLININrs2229291}" "Germline" "" "rs2229291" "0" "" "" "g.53210729T>G" "" "likely benign" "" "0000675883" "0" "50" "1" "53676394" "53676394" "subst" "0.000252106" "02325" "CPT2_000025" "g.53676394C>T" "" "" "" "CPT2(NM_000098.3):c.1048C>T (p.R350C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688199" "0" "70" "1" "53675848" "53675849" "del" "0" "01943" "CPT2_000037" "g.53675848_53675849del" "" "" "" "CPT2(NM_000098.2):c.502_503delGC (p.A168Wfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688200" "0" "70" "1" "53675851" "53675854" "del" "0" "01943" "CPT2_000038" "g.53675851_53675854del" "" "" "" "CPT2(NM_000098.2):c.505_508delGGCC (p.G169Ffs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688201" "0" "50" "1" "53676146" "53676146" "subst" "8.13908E-6" "02325" "CPT2_000039" "g.53676146C>T" "" "" "" "CPT2(NM_000098.3):c.800C>T (p.S267L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688202" "0" "90" "1" "53676315" "53676316" "del" "0" "02325" "CPT2_000040" "g.53676315_53676316del" "" "" "" "CPT2(NM_000098.3):c.969_970delCT (p.F323Lfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688203" "0" "30" "1" "53676924" "53676924" "subst" "0.00432329" "02326" "CPT2_000041" "g.53676924T>C" "" "" "" "CPT2(NM_000098.2):c.1578T>C (p.G526=), CPT2(NM_000098.3):c.1578T>C (p.G526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697451" "0" "70" "1" "53668099" "53668099" "subst" "0.00138493" "00006" "CPT2_000015" "g.53668099C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.53202427C>T" "" "likely pathogenic" "" "0000697452" "0" "70" "1" "53676019" "53676019" "subst" "8.14764E-6" "00006" "CPT2_000042" "g.53676019C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.53210347C>T" "" "likely pathogenic" "" "0000717550" "0" "90" "1" "53668099" "53668099" "subst" "0.00138493" "02329" "CPT2_000015" "g.53668099C>T" "" "" "" "CPT2(NM_000098.3):c.338C>T (p.(Ser113Leu), p.S113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717551" "0" "50" "1" "53675923" "53675923" "subst" "4.06171E-6" "02329" "CPT2_000018" "g.53675923C>G" "" "" "" "CPT2(NM_000098.2):c.577C>G (p.R193G), CPT2(NM_000098.3):c.577C>G (p.R193G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717552" "0" "70" "1" "53675923" "53675923" "subst" "0.000361492" "02329" "CPT2_000007" "g.53675923C>T" "" "" "" "CPT2(NM_000098.3):c.577C>T (p.R193C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717553" "0" "30" "1" "53676278" "53676278" "subst" "0.000320898" "02326" "CPT2_000043" "g.53676278A>G" "" "" "" "CPT2(NM_000098.3):c.932A>G (p.N311S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717554" "0" "50" "1" "53676784" "53676784" "subst" "0.000199369" "02329" "CPT2_000028" "g.53676784G>A" "" "" "" "CPT2(NM_000098.2):c.1438G>A (p.G480R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799416" "0" "50" "1" "53676223" "53676223" "subst" "0.000113778" "02325" "CPT2_000044" "g.53676223A>G" "" "" "" "CPT2(NM_000098.2):c.877A>G (p.S293G), CPT2(NM_000098.3):c.877A>G (p.S293G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799417" "0" "50" "1" "53676389" "53676389" "subst" "0" "01943" "CPT2_000045" "g.53676389C>G" "" "" "" "CPT2(NM_000098.2):c.1043C>G (p.T348R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799418" "0" "30" "1" "53679096" "53679096" "subst" "0.00263126" "01943" "CPT2_000013" "g.53679096T>C" "" "" "" "CPT2(NM_000098.2):c.1806T>C (p.F602=), CPT2(NM_000098.3):c.1806T>C (p.F602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848763" "0" "30" "1" "53676223" "53676223" "subst" "0.000113778" "01943" "CPT2_000044" "g.53676223A>G" "" "" "" "CPT2(NM_000098.2):c.877A>G (p.S293G), CPT2(NM_000098.3):c.877A>G (p.S293G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848764" "0" "30" "1" "53676630" "53676630" "subst" "8.12315E-6" "01943" "CPT2_000048" "g.53676630A>T" "" "" "" "CPT2(NM_000098.2):c.1284A>T (p.T428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848765" "0" "30" "1" "53676924" "53676924" "subst" "0.00432329" "01943" "CPT2_000041" "g.53676924T>C" "" "" "" "CPT2(NM_000098.2):c.1578T>C (p.G526=), CPT2(NM_000098.3):c.1578T>C (p.G526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857533" "0" "90" "1" "53666473" "53666473" "subst" "0" "02326" "CPT2_000046" "g.53666473T>C" "" "" "" "CPT2(NM_000098.3):c.233+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857534" "0" "50" "1" "53675866" "53675866" "subst" "0" "01804" "CPT2_000047" "g.53675866G>C" "" "" "" "CPT2(NM_000098.2):c.520G>C (p.(Glu174Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857535" "0" "50" "1" "53678960" "53678960" "subst" "0" "01943" "CPT2_000049" "g.53678960T>C" "" "" "" "CPT2(NM_000098.2):c.1670T>C (p.F557S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883492" "0" "90" "1" "53662764" "53662764" "subst" "0.000180248" "02326" "CPT2_000050" "g.53662764C>A" "" "" "" "CPT2(NM_000098.3):c.149C>A (p.P50H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883493" "0" "50" "1" "53675794" "53675794" "subst" "0.000154305" "02325" "CPT2_000051" "g.53675794A>G" "" "" "" "CPT2(NM_000098.3):c.448A>G (p.T150A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883494" "0" "50" "1" "53675923" "53675923" "subst" "4.06171E-6" "02325" "CPT2_000018" "g.53675923C>G" "" "" "" "CPT2(NM_000098.2):c.577C>G (p.R193G), CPT2(NM_000098.3):c.577C>G (p.R193G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883495" "0" "30" "1" "53676278" "53676278" "subst" "0.000320898" "02325" "CPT2_000043" "g.53676278A>G" "" "" "" "CPT2(NM_000098.3):c.932A>G (p.N311S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883496" "0" "50" "1" "53676371" "53676371" "subst" "0.00105756" "02325" "CPT2_000052" "g.53676371T>C" "" "" "" "CPT2(NM_000098.3):c.1025T>C (p.(Met342Thr), p.M342T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883497" "0" "30" "1" "53676401" "53676401" "subst" "0.0228082" "01804" "CPT2_000009" "g.53676401T>G" "" "" "" "CPT2(NM_000098.2):c.1055T>G (p.(Phe352Cys)), CPT2(NM_000098.3):c.1055T>G (p.F352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883498" "0" "50" "1" "53676782" "53676782" "subst" "1.22021E-5" "02325" "CPT2_000027" "g.53676782A>G" "" "" "" "CPT2(NM_000098.2):c.1436A>G (p.Y479C), CPT2(NM_000098.3):c.1436A>G (p.(Tyr479Cys), p.Y479C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911089" "0" "30" "1" "53668063" "53668063" "subst" "0.00150266" "02326" "CPT2_000053" "g.53668063C>T" "" "" "" "CPT2(NM_000098.3):c.302C>T (p.A101V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911090" "0" "30" "1" "53679096" "53679096" "subst" "0.00263126" "02327" "CPT2_000013" "g.53679096T>C" "" "" "" "CPT2(NM_000098.2):c.1806T>C (p.F602=), CPT2(NM_000098.3):c.1806T>C (p.F602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923205" "0" "50" "1" "53675846" "53675846" "subst" "0.000190857" "02325" "CPT2_000054" "g.53675846G>A" "" "" "" "CPT2(NM_000098.3):c.500G>A (p.R167Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946193" "0" "50" "1" "53676784" "53676784" "subst" "0.000199369" "00006" "CPT2_000028" "g.53676784G>A" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.53211112G>A" "" "VUS" "" "0000974029" "0" "50" "1" "53676097" "53676097" "subst" "2.43952E-5" "02327" "CPT2_000056" "g.53676097T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974030" "0" "50" "1" "53676101" "53676101" "subst" "4.06564E-6" "01804" "CPT2_000019" "g.53676101A>G" "" "" "" "CPT2(NM_000098.2):c.755A>G (p.Y252C), CPT2(NM_000098.3):c.755A>G (p.(Tyr252Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974031" "0" "50" "1" "53676371" "53676371" "subst" "0.00105756" "01804" "CPT2_000052" "g.53676371T>C" "" "" "" "CPT2(NM_000098.3):c.1025T>C (p.(Met342Thr), p.M342T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013330" "0" "90" "1" "53668099" "53668099" "subst" "0.00138493" "02325" "CPT2_000015" "g.53668099C>T" "" "" "" "CPT2(NM_000098.3):c.338C>T (p.(Ser113Leu), p.S113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001017223" "3" "90" "1" "53668099" "53668099" "subst" "0.00138493" "00006" "CPT2_000015" "g.53668099C>T" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.53202427C>T" "" "pathogenic (recessive)" "" "0001017224" "3" "90" "1" "53668099" "53668099" "subst" "0.00138493" "00006" "CPT2_000015" "g.53668099C>T" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.53202427C>T" "" "pathogenic (recessive)" "" "0001017225" "1" "90" "1" "53668099" "53668099" "subst" "0.00138493" "00006" "CPT2_000015" "g.53668099C>T" "" "{PMID:Diekman 2014:24305961}" "" "" "" "Germline" "" "" "0" "" "" "g.53202427C>T" "" "pathogenic (recessive)" "" "0001017243" "2" "90" "1" "53675716" "53675716" "subst" "8.12189E-6" "00006" "CPT2_000016" "g.53675716C>T" "" "{PMID:Diekman 2014:24305961}" "" "371C>T (Arg124Val)" "" "Germline" "" "" "0" "" "" "g.53210044C>T" "" "pathogenic (recessive)" "" "0001024186" "0" "30" "1" "53668082" "53668082" "subst" "0.000361436" "02326" "CPT2_000057" "g.53668082A>G" "" "" "" "CPT2(NM_000098.3):c.321A>G (p.K107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032122" "0" "90" "1" "53668099" "53668099" "subst" "0.00138493" "01804" "CPT2_000015" "g.53668099C>T" "" "" "" "CPT2(NM_000098.3):c.338C>T (p.(Ser113Leu), p.S113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001032123" "0" "50" "1" "53676743" "53676743" "subst" "1.62578E-5" "01804" "CPT2_000058" "g.53676743T>C" "" "" "" "CPT2(NM_000098.3):c.1397T>C (p.(Val466Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032124" "0" "70" "1" "53676782" "53676782" "subst" "1.22021E-5" "01804" "CPT2_000027" "g.53676782A>G" "" "" "" "CPT2(NM_000098.2):c.1436A>G (p.Y479C), CPT2(NM_000098.3):c.1436A>G (p.(Tyr479Cys), p.Y479C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032125" "0" "50" "1" "53679231" "53679231" "subst" "8.54868E-5" "01804" "CPT2_000059" "g.53679231G>A" "" "" "" "CPT2(NM_000098.3):c.1941G>A (p.(Met647Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046927" "0" "90" "1" "53668099" "53668099" "subst" "0.00138493" "03779" "CPT2_000015" "g.53668099C>T" "" "" "" "" "" "Unknown" "" "rs74315294" "0" "" "" "" "" "pathogenic" "" ## 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 CPT2 ## Count = 93 "{{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}}" "0000062635" "00000105" "50" "1436" "0" "1436" "0" "c.1436A>T" "r.(?)" "p.(Tyr479Phe)" "" "0000062636" "00000105" "90" "534" "0" "558" "0" "c.534_558delinsT" "r.(?)" "p.(Leu178_Ile186delinsPhe)" "" "0000062637" "00000105" "10" "152" "56" "152" "56" "c.152+56C>A" "r.(=)" "p.(=)" "" "0000096555" "00000105" "50" "1634" "0" "1634" "0" "c.1634A>C" "r.(?)" "p.(Glu545Ala)" "4" "0000158310" "00000105" "70" "1117" "0" "1117" "0" "c.1117T>C" "r.(?)" "p.(Ser373Pro)" "4" "0000251921" "00000105" "30" "919" "0" "919" "0" "c.919A>C" "r.(?)" "p.(Met307Leu)" "" "0000267116" "00000105" "10" "1055" "0" "1055" "0" "c.1055T>G" "r.(?)" "p.(Phe352Cys)" "" "0000267117" "00000105" "10" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Ile)" "" "0000270576" "00000105" "90" "1342" "0" "1342" "0" "c.1342T>C" "r.(?)" "p.(Phe448Leu)" "" "0000270577" "00000105" "30" "1602" "0" "1602" "0" "c.1602G>A" "r.(?)" "p.(Glu534=)" "" "0000270578" "00000105" "10" "1806" "0" "1806" "0" "c.1806T>C" "r.(?)" "p.(Phe602=)" "" "0000270579" "00000105" "10" "234" "-98" "234" "-98" "c.234-98T>G" "r.(=)" "p.(=)" "" "0000270580" "00000105" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Cys)" "" "0000350513" "00000105" "10" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Ile)" "" "0000507823" "00000105" "50" "236" "0" "236" "0" "c.236A>C" "r.(?)" "p.(Lys79Thr)" "" "0000507824" "00000105" "30" "236" "0" "236" "0" "c.236A>C" "r.(?)" "p.(Lys79Thr)" "" "0000507825" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0000507826" "00000105" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Ter)" "" "0000507827" "00000105" "90" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Trp)" "" "0000507829" "00000105" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Cys)" "" "0000507830" "00000105" "50" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Tyr252Cys)" "" "0000507831" "00000105" "30" "1602" "0" "1602" "0" "c.1602G>A" "r.(?)" "p.(Glu534=)" "" "0000507833" "00000105" "10" "1939" "0" "1939" "0" "c.1939A>G" "r.(?)" "p.(Met647Val)" "" "0000597033" "00000105" "70" "1811" "0" "1812" "0" "c.1811_1812del" "r.(?)" "p.(Pro604Argfs*4)" "" "0000597037" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0000605824" "00000105" "30" "152" "7" "152" "7" "c.152+7C>T" "r.(=)" "p.(=)" "" "0000605826" "00000105" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Ter)" "" "0000605827" "00000105" "50" "912" "0" "912" "0" "c.912G>T" "r.(?)" "p.(Gln304His)" "" "0000605828" "00000105" "70" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Cys)" "" "0000605829" "00000105" "50" "1232" "0" "1232" "0" "c.1232C>T" "r.(?)" "p.(Thr411Met)" "" "0000605831" "00000105" "10" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Val507Ile)" "" "0000605832" "00000105" "30" "1776" "0" "1776" "0" "c.1776G>A" "r.(?)" "p.(Leu592=)" "" "0000620658" "00000105" "50" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Tyr479Cys)" "" "0000629672" "00000105" "70" "1148" "0" "1148" "0" "c.1148T>A" "r.(?)" "p.(Phe383Tyr)" "" "0000647734" "00000105" "50" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0000647735" "00000105" "70" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Arg296*)" "" "0000647736" "00000105" "30" "1055" "0" "1055" "0" "c.1055T>G" "r.(?)" "p.(Phe352Cys)" "" "0000647737" "00000105" "50" "1634" "0" "1634" "0" "c.1634A>C" "r.(?)" "p.(Glu545Ala)" "" "0000647738" "00000105" "50" "1657" "0" "1657" "0" "c.1657G>A" "r.(?)" "p.(Asp553Asn)" "" "0000654064" "00000105" "30" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Ser230Ile)" "" "0000654065" "00000105" "50" "1054" "0" "1054" "0" "c.1054T>C" "r.(?)" "p.(Phe352Leu)" "" "0000654066" "00000105" "50" "1634" "0" "1634" "0" "c.1634A>C" "r.(?)" "p.(Glu545Ala)" "" "0000654067" "00000105" "50" "1892" "0" "1892" "0" "c.1892G>A" "r.(?)" "p.(Arg631His)" "" "0000665993" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0000665994" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0000669026" "00000105" "30" "1055" "0" "1055" "0" "c.1055T>G" "r.(?)" "p.(Phe352Cys)" "" "0000675883" "00000105" "50" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Cys)" "" "0000688199" "00000105" "70" "502" "0" "503" "0" "c.502_503del" "r.(?)" "p.(Ala168TrpfsTer16)" "" "0000688200" "00000105" "70" "505" "0" "508" "0" "c.505_508del" "r.(?)" "p.(Gly169PhefsTer9)" "" "0000688201" "00000105" "50" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ser267Leu)" "" "0000688202" "00000105" "90" "969" "0" "970" "0" "c.969_970del" "r.(?)" "p.(Phe323LeufsTer6)" "" "0000688203" "00000105" "30" "1578" "0" "1578" "0" "c.1578T>C" "r.(?)" "p.(Gly526=)" "" "0000697451" "00000105" "70" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0000697452" "00000105" "70" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Cys)" "" "0000717550" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0000717551" "00000105" "50" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Arg193Gly)" "" "0000717552" "00000105" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Cys)" "" "0000717553" "00000105" "30" "932" "0" "932" "0" "c.932A>G" "r.(?)" "p.(Asn311Ser)" "" "0000717554" "00000105" "50" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Gly480Arg)" "" "0000799416" "00000105" "50" "877" "0" "877" "0" "c.877A>G" "r.(?)" "p.(Ser293Gly)" "" "0000799417" "00000105" "50" "1043" "0" "1043" "0" "c.1043C>G" "r.(?)" "p.(Thr348Arg)" "" "0000799418" "00000105" "30" "1806" "0" "1806" "0" "c.1806T>C" "r.(?)" "p.(Phe602=)" "" "0000848763" "00000105" "30" "877" "0" "877" "0" "c.877A>G" "r.(?)" "p.(Ser293Gly)" "" "0000848764" "00000105" "30" "1284" "0" "1284" "0" "c.1284A>T" "r.(?)" "p.(Thr428=)" "" "0000848765" "00000105" "30" "1578" "0" "1578" "0" "c.1578T>C" "r.(?)" "p.(Gly526=)" "" "0000857533" "00000105" "90" "233" "2" "233" "2" "c.233+2T>C" "r.spl?" "p.?" "" "0000857534" "00000105" "50" "520" "0" "520" "0" "c.520G>C" "r.(?)" "p.(Glu174Gln)" "" "0000857535" "00000105" "50" "1670" "0" "1670" "0" "c.1670T>C" "r.(?)" "p.(Phe557Ser)" "" "0000883492" "00000105" "90" "149" "0" "149" "0" "c.149C>A" "r.(?)" "p.(Pro50His)" "" "0000883493" "00000105" "50" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Thr150Ala)" "" "0000883494" "00000105" "50" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Arg193Gly)" "" "0000883495" "00000105" "30" "932" "0" "932" "0" "c.932A>G" "r.(?)" "p.(Asn311Ser)" "" "0000883496" "00000105" "50" "1025" "0" "1025" "0" "c.1025T>C" "r.(?)" "p.(Met342Thr)" "" "0000883497" "00000105" "30" "1055" "0" "1055" "0" "c.1055T>G" "r.(?)" "p.(Phe352Cys)" "" "0000883498" "00000105" "50" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Tyr479Cys)" "" "0000911089" "00000105" "30" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Ala101Val)" "" "0000911090" "00000105" "30" "1806" "0" "1806" "0" "c.1806T>C" "r.(?)" "p.(Phe602=)" "" "0000923205" "00000105" "50" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167Gln)" "" "0000946193" "00000105" "50" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Gly480Arg)" "" "0000974029" "00000105" "50" "751" "0" "751" "0" "c.751T>G" "r.(?)" "p.(Phe251Val)" "" "0000974030" "00000105" "50" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Tyr252Cys)" "" "0000974031" "00000105" "50" "1025" "0" "1025" "0" "c.1025T>C" "r.(?)" "p.(Met342Thr)" "" "0001013330" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0001017223" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0001017224" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0001017225" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0001017243" "00000105" "90" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Arg124Ter)" "" "0001024186" "00000105" "30" "321" "0" "321" "0" "c.321A>G" "r.(?)" "p.(=)" "" "0001032122" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0001032123" "00000105" "50" "1397" "0" "1397" "0" "c.1397T>C" "r.(?)" "p.(Val466Ala)" "" "0001032124" "00000105" "70" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Tyr479Cys)" "" "0001032125" "00000105" "50" "1941" "0" "1941" "0" "c.1941G>A" "r.(?)" "p.(Met647Ile)" "" "0001046927" "00000105" "90" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000035516" "0000062635" "0000035517" "0000062636" "0000035518" "0000062637" "0000064900" "0000096555" "0000096283" "0000158310" "0000266373" "0000597033" "0000266373" "0000597037" "0000275608" "0000629672" "0000291045" "0000647734" "0000291046" "0000647735" "0000291047" "0000647736" "0000291048" "0000647737" "0000291049" "0000647738" "0000302649" "0000665993" "0000302650" "0000665994" "0000305338" "0000669026" "0000315362" "0000697451" "0000315363" "0000697452" "0000444254" "0000946193" "0000459257" "0001017223" "0000459258" "0001017224" "0000459259" "0001017225" "0000459259" "0001017243"