### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTRF) # 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}}" "PTRF" "polymerase I and transcript release factor" "17" "q21.31" "unknown" "NC_000017.10" "UD_132084424052" "" "https://www.LOVD.nl/CAVIN1" "" "1" "9688" "284119" "603198" "1" "1" "1" "1" "NOTE: gene name changed from PRTF to CAVIN1\r\nThis database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/PTRF_codingDNA.html" "1" "" "NOTE: gene name changed from PRTF to CAVIN1\r\nThis database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2009-10-11 00:00:00" "00006" "2020-11-26 19:04:38" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017177" "PTRF" "polymerase I and transcript release factor" "001" "NM_012232.5" "" "NP_036364.2" "" "" "" "-223" "3411" "1173" "40575338" "40554467" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "03310" "CGL4" "lipodystrophy, congenital generalized, type 4 (CGL-4)" "AR" "613327" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05543" "CGL" "lipodystrophy, generalized, congenital (CGL)" "" "" "" "" "" "00006" "2018-12-28 09:50:52" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PTRF" "03310" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00210630" "" "" "" "1" "" "00006" "{PMID:Hayashi 2009:19726876}" "no changes in CAV3, LMNA, AGPAT2, CAV1, PPARG, AKT2, ZMPSTE24" "F" "" "Japan" ">8y" "0" "" "" "" "19726876.P1" "00210631" "" "" "" "1" "" "00006" "{PMID:Hayashi 2009:19726876}" "no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24" "F" "" "Japan" ">14y" "0" "" "" "" "19726876.P2" "00210632" "" "" "" "1" "" "00006" "{PMID:Hayashi 2009:19726876}" "no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24" "M" "" "Japan" ">10y" "0" "" "" "" "19726876.P3" "00210633" "" "" "" "1" "" "00006" "{PMID:Hayashi 2009:19726876}" "no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24; both parents hypertension requiring medication" "M" "" "Japan" ">27y" "0" "" "" "" "19726876.P4" "00210634" "" "" "" "1" "" "00006" "{PMID:Hayashi 2009:19726876}" "no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24" "M" "" "Japan" ">24y" "0" "" "" "" "19726876.P5" "00210635" "" "" "" "2" "" "00006" "{PMID:Hayashi 2009:19726876}" "" "" "" "Japan" "" "0" "" "" "" "19726876.c" "00210636" "" "" "" "26" "" "00006" "{PMID:Hayashi 2009:19726876}" "" "" "" "Japan" "" "0" "" "" "" "19726876.c" "00244870" "" "" "" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam18Pat1" "00244871" "" "" "" "1" "" "00006" "{PMID:Akinci 2016:27144933}" "" "F" "" "Turkey" "" "0" "" "see paper" "" "Fam19Pat1" "00296382" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00210630" "05543" "00210631" "05543" "00210632" "05543" "00210633" "05543" "00210634" "05543" "00210635" "00000" "00210636" "00000" "00244870" "05543" "00244871" "05543" "00296382" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 03310, 05543 ## Count = 10 "{{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}}" "0000159195" "05543" "00210630" "00006" "Unknown" "" "no acanthosis nigricans, hepatosplenomegaly, reduced growth hormone secretion, distal dominant muscle weakness, muscle mounding, muscle hypertrophy, caridac arrhythmia, lordosis, contractures (ankles, shoulders, fingers), constipation; CPK 1374; no intellectual disability" "" "" "" "IHC PTRF very weak; CAV3 deficiency" "" "" "" "" "CGL-4" "congenital lipodystrophy, muscular dystrophy" "" "0000159196" "05543" "00210631" "00006" "Unknown" "" "no acanthosis nigricans, fatty liver, no muscle weakness, myalgia, muscle stiffness, transient IgA deficiency, recurrent pneumonia; CPK 542-2253; no intellectual disability" "" "" "" "IHC PTRF very weak; CAV3 deficiency" "" "" "" "" "CGL-4" "congenital lipodystrophy, muscular dystrophy" "" "0000159197" "05543" "00210632" "00006" "Unknown" "" "no acanthosis nigricans, no muscle weakness, nephrosis; CPK 2000; no intellectual disability" "" "" "" "IHC PTRF very weak; CAV3 deficiency" "" "" "" "" "CGL-4" "congenital lipodystrophy, muscular dystrophy" "" "0000159198" "05543" "00210633" "00006" "Unknown" "" "generalized lipodystrophy, no anathosis nigricans, hepatosplenomegaly, accelerated bone age, acromegaloid features, no androgynism, generalized muscle weakness, muscle mounding, muscle hypertrophy, atrial fibrillation, scoliosis, contractures ankles, umbilical prominence, renal stones; CPK 554-1545; no intellectual disability" "" "" "" "IHC PTRF very weak; CAV3 deficiency" "" "" "" "" "CGL-4" "congenital lipodystrophy, muscular dystrophy" "" "0000159199" "05543" "00210634" "00006" "Unknown" "" "generalized lipodystrophy, no anathosis nigricans, hepatosplenomegaly, accelerated bone age, acromegaloid features, no androgynism, generalized muscle weakness, muscle mounding, muscle hypertrophy, atrial fibrillation, scoliosis, contractures ankles, umbilical prominence, renal stones; CPK 554-1545; no intellectual disability" "" "" "" "IHC PTRF very weak; CAV3 deficiency" "" "" "" "" "CGL-4" "congenital lipodystrophy, muscular dystrophy" "" "0000159200" "00000" "00210635" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159201" "00000" "00210636" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000184835" "05543" "00244870" "00006" "Familial, autosomal recessive" "16y" "myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, tight heel cords, gastrointestinal dysmotility, IFG, IGT, no hepatic steatosis" "" "" "" "" "" "" "" "" "CGL-4" "congenital generalized lipodystrophy" "" "0000184836" "05543" "00244871" "00006" "Familial, autosomal recessive" "13y" "myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, gastrointestinal dysmotility, IFG" "" "" "" "" "" "" "" "" "CGL-4" "congenital generalized lipodystrophy" "" "0000223796" "00198" "00296382" "01164" "Unknown" "" "Tremor (HP:0001337); Muscle cramps (HP:0003394)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000211706" "00210630" "1" "00006" "00006" "2009-11-07 16:58:46" "00006" "2013-02-01 19:44:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211707" "00210631" "1" "00006" "00006" "2009-11-07 16:58:46" "00006" "2013-02-01 19:44:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211708" "00210632" "1" "00006" "00006" "2009-11-07 16:58:46" "00006" "2013-02-01 19:44:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211709" "00210633" "1" "00006" "00006" "2009-11-07 16:58:46" "00006" "2013-02-01 19:44:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211710" "00210634" "1" "00006" "00006" "2009-11-07 16:58:46" "00006" "2013-02-01 19:44:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211711" "00210635" "1" "00006" "00006" "2009-11-07 16:58:46" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211712" "00210636" "1" "00006" "00006" "2009-11-07 16:58:46" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000245982" "00244870" "1" "00006" "00006" "2019-06-28 15:04:58" "" "" "SEQ" "DNA" "" "" "0000245983" "00244871" "1" "00006" "00006" "2019-06-28 15:04:58" "" "" "SEQ" "DNA" "" "" "0000297493" "00296382" "1" "01164" "01164" "2020-04-06 09:47:43" "" "" "SEQ-NG-S" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000211706" "PTRF" "0000211707" "PTRF" "0000211708" "PTRF" "0000211709" "PTRF" "0000211710" "PTRF" "0000211711" "PTRF" "0000211712" "PTRF" "0000245982" "PTRF" "0000245983" "PTRF" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 35 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000294600" "0" "10" "17" "40557035" "40557035" "subst" "0.0057757" "02330" "PTRF_000005" "g.40557035C>T" "" "" "" "CAVIN1(NM_012232.6):c.843G>A (p.L281=, p.(Leu281=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42405017C>T" "" "benign" "" "0000443307" "3" "90" "17" "40557182" "40557182" "dup" "0" "00006" "PTRF_000001" "g.40557182dup" "" "{PMID:Hayashi 2009:19726876}" "Hpy188III" "696_697insC" "not in 400 control chromosomes; no shared haplotype; carries BSCL2:c.1138G>A (D380N)" "Germline" "" "" "0" "" "" "g.42405164dup" "" "pathogenic (recessive)" "" "0000443308" "3" "90" "17" "40557182" "40557182" "dup" "0" "00006" "PTRF_000001" "g.40557182dup" "" "{PMID:Hayashi 2009:19726876}" "Hpy188III" "696_697insC" "not in 400 control chromosomes; no shared haplotype" "Germline" "" "" "0" "" "" "g.42405164dup" "" "pathogenic (recessive)" "" "0000443309" "3" "90" "17" "40557182" "40557182" "dup" "0" "00006" "PTRF_000001" "g.40557182dup" "" "{PMID:Hayashi 2009:19726876}" "Hpy188III" "696_697insC" "not in 400 control chromosomes; no shared haplotype" "Germline" "" "" "0" "" "" "g.42405164dup" "" "pathogenic (recessive)" "" "0000443310" "3" "90" "17" "40557182" "40557182" "dup" "0" "00006" "PTRF_000001" "g.40557182dup" "" "{PMID:Hayashi 2009:19726876}" "Hpy188III" "696_697insC" "not in 400 control chromosomes; no shared haplotype" "Germline" "" "" "0" "" "" "g.42405164dup" "" "pathogenic (recessive)" "" "0000443311" "1" "90" "17" "40557182" "40557182" "dup" "0" "00006" "PTRF_000001" "g.40557182dup" "" "{PMID:Hayashi 2009:19726876}" "Hpy188III" "696_697insC" "not in 400 control chromosomes; no shared haplotype" "Germline" "" "" "0" "" "" "g.42405164dup" "" "pathogenic (recessive)" "" "0000443312" "2" "90" "17" "40557353" "40557353" "del" "0" "00006" "PTRF_000002" "g.40557353del" "" "{PMID:Hayashi 2009:19726876}" "TaqI+" "525delG" "not in 400 control chromosomes; no shared haplotype" "Germline" "" "" "0" "" "" "g.42405335del" "" "pathogenic (recessive)" "" "0000443313" "3" "10" "17" "40556637" "40556645" "dup" "0" "00006" "PTRF_000003" "g.40556637_40556645dup" "0.02" "{PMID:Hayashi 2009:19726876}" "" "1235_1236insTCTCGGCTC" "2% homozygous cases in controls" "Germline" "" "" "0" "" "" "g.42404619_42404627dup" "" "benign" "" "0000443314" "1" "10" "17" "40556637" "40556645" "dup" "0" "00006" "PTRF_000003" "g.40556637_40556645dup" "0.26" "{PMID:Hayashi 2009:19726876}" "" "1235_1236insTCTCGGCTC" "control chromosomes" "Germline" "" "" "0" "" "" "g.42404619_42404627dup" "" "benign" "" "0000443315" "1" "90" "17" "40557182" "40557182" "dup" "0" "00006" "PTRF_000001" "g.40557182dup" "" "{PMID:Hayashi 2009:19726876}" "" "696dupC" "expression cloned in C2C12/COS-7 cells gave microtubular filament network in cytoplasm, IP-no proper localization" "Germline" "" "" "0" "" "" "g.42405164dup" "" "pathogenic" "" "0000443316" "2" "90" "17" "40557353" "40557353" "del" "0" "00006" "PTRF_000002" "g.40557353del" "" "{PMID:Hayashi 2009:19726876}" "" "526delG" "expression cloned in C2C12/COS-7 cells gave intranuclear aggregations (no cell membrane staining), IP-no proper localization" "Germline" "" "" "0" "" "" "g.42405335del" "" "pathogenic" "" "0000498190" "3" "90" "17" "40557397" "40557400" "" "0" "00006" "PTRF_000006" "g.40557397_40557400dup" "" "{PMID:Akinci 2016:27144933}" "" "481_482insGTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000498191" "3" "90" "17" "40574857" "40574857" "subst" "0" "00006" "PTRF_000007" "g.40574857G>A" "" "{PMID:Akinci 2016:27144933}" "" "" "" "Germline" "" "" "0" "" "" "g.42422839G>A" "" "pathogenic (recessive)" "" "0000561487" "0" "30" "17" "40557338" "40557338" "subst" "0.00112046" "01943" "PTRF_000008" "g.40557338C>T" "" "" "" "CAVIN1(NM_012232.6):c.540G>A (p.E180=), PTRF(NM_012232.5):c.540G>A (p.E180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42405320C>T" "" "likely benign" "" "0000561488" "0" "50" "17" "40574728" "40574728" "subst" "4.27533E-6" "01943" "PTRF_000009" "g.40574728G>C" "" "" "" "PTRF(NM_012232.5):c.388C>G (p.R130G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42422710G>C" "" "VUS" "" "0000616550" "0" "50" "17" "40574654" "40574654" "subst" "0.000326113" "02325" "PTRF_000011" "g.40574654C>G" "" "" "" "CAVIN1(NM_012232.6):c.462G>C (p.M154I), PTRF(NM_012232.5):c.462G>C (p.(Met154Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42422636C>G" "" "VUS" "" "0000623674" "0" "50" "17" "40556955" "40556955" "subst" "0.00104437" "02325" "PTRF_000010" "g.40556955T>C" "" "" "" "CAVIN1(NM_012232.6):c.923A>G (p.Y308C), PTRF(NM_012232.5):c.923A>G (p.(Tyr308Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42404937T>C" "" "VUS" "" "0000660095" "0" "50" "17" "40556893" "40556893" "subst" "2.43873E-5" "01164" "PTRF_000012" "g.40556893G>A" "" "" "" "" "ACMG grading: PM2,PP3; no second variant deteced in PTRF (CAVIN1)" "Germline" "" "rs752558303" "0" "" "" "g.42404875G>A" "" "VUS" "ACMG" "0000692339" "0" "30" "17" "40557317" "40557334" "dup" "0" "02326" "PTRF_000013" "g.40557317_40557334dup" "" "" "" "CAVIN1(NM_012232.6):c.553_570dupGAGCTGGGCGAGGGCGAG (p.E185_E190dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726357" "0" "90" "17" "40557088" "40557088" "subst" "0" "01943" "PTRF_000014" "g.40557088C>A" "" "" "" "CAVIN1(NM_012232.5):c.790G>T (p.E264*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726358" "0" "50" "17" "40574760" "40574760" "subst" "0.00206261" "02325" "PTRF_000015" "g.40574760A>T" "" "" "" "CAVIN1(NM_012232.5):c.356T>A (p.V119D), CAVIN1(NM_012232.6):c.356T>A (p.V119D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726359" "0" "90" "17" "40574902" "40574902" "subst" "0" "02329" "PTRF_000004" "g.40574902G>A" "" "" "" "CAVIN1(NM_012232.6):c.214C>T (p.Q72*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807961" "0" "30" "17" "40556708" "40556708" "subst" "0" "02326" "PTRF_000016" "g.40556708G>A" "" "" "" "CAVIN1(NM_012232.6):c.1170C>T (p.D390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807962" "0" "30" "17" "40557338" "40557338" "subst" "0.00112046" "02326" "PTRF_000008" "g.40557338C>T" "" "" "" "CAVIN1(NM_012232.6):c.540G>A (p.E180=), PTRF(NM_012232.5):c.540G>A (p.E180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854887" "0" "50" "17" "40574760" "40574760" "subst" "0.00206261" "01943" "PTRF_000015" "g.40574760A>T" "" "" "" "CAVIN1(NM_012232.5):c.356T>A (p.V119D), CAVIN1(NM_012232.6):c.356T>A (p.V119D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865243" "0" "30" "17" "40556870" "40556870" "subst" "0" "01804" "PTRF_000017" "g.40556870G>A" "" "" "" "PTRF(NM_012232.5):c.1008C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865244" "0" "30" "17" "40574654" "40574654" "subst" "0.000326113" "01804" "PTRF_000011" "g.40574654C>G" "" "" "" "CAVIN1(NM_012232.6):c.462G>C (p.M154I), PTRF(NM_012232.5):c.462G>C (p.(Met154Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865245" "0" "30" "17" "40574849" "40574849" "subst" "2.85796E-5" "01804" "PTRF_000018" "g.40574849G>T" "" "" "" "PTRF(NM_012232.5):c.267C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893566" "0" "50" "17" "40556955" "40556955" "subst" "0.00104437" "02326" "PTRF_000010" "g.40556955T>C" "" "" "" "CAVIN1(NM_012232.6):c.923A>G (p.Y308C), PTRF(NM_012232.5):c.923A>G (p.(Tyr308Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893567" "0" "30" "17" "40574760" "40574760" "subst" "0.00206261" "02326" "PTRF_000015" "g.40574760A>T" "" "" "" "CAVIN1(NM_012232.5):c.356T>A (p.V119D), CAVIN1(NM_012232.6):c.356T>A (p.V119D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914812" "0" "30" "17" "40574654" "40574654" "subst" "0.000326113" "02326" "PTRF_000011" "g.40574654C>G" "" "" "" "CAVIN1(NM_012232.6):c.462G>C (p.M154I), PTRF(NM_012232.5):c.462G>C (p.(Met154Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926476" "0" "30" "17" "40575061" "40575061" "subst" "9.9009E-5" "02326" "PTRF_000019" "g.40575061C>T" "" "" "" "CAVIN1(NM_012232.6):c.55G>A (p.A19T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950875" "0" "90" "17" "40574902" "40574902" "subst" "0" "02327" "PTRF_000004" "g.40574902G>A" "" "" "" "CAVIN1(NM_012232.6):c.214C>T (p.Q72*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001003225" "0" "30" "17" "40556955" "40556955" "subst" "0.00104437" "01804" "PTRF_000010" "g.40556955T>C" "" "" "" "CAVIN1(NM_012232.6):c.923A>G (p.Y308C), PTRF(NM_012232.5):c.923A>G (p.(Tyr308Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015528" "0" "10" "17" "40557035" "40557035" "subst" "0.0057757" "01804" "PTRF_000005" "g.40557035C>T" "" "" "" "CAVIN1(NM_012232.6):c.843G>A (p.L281=, p.(Leu281=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PTRF ## Count = 35 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000294600" "00017177" "10" "843" "0" "843" "0" "c.843G>A" "r.(?)" "p.(Leu281=)" "" "0000443307" "00017177" "90" "696" "0" "696" "0" "c.696dup" "r.0" "p.(Lys233Glnfs*192)" "2" "0000443308" "00017177" "90" "696" "0" "696" "0" "c.696dup" "r.0" "p.(Lys233Glnfs*192)" "2" "0000443309" "00017177" "90" "696" "0" "696" "0" "c.696dup" "r.0" "p.(Lys233Glnfs*192)" "2" "0000443310" "00017177" "90" "696" "0" "696" "0" "c.696dup" "r.0" "p.(Lys233Glnfs*192)" "2" "0000443311" "00017177" "90" "696" "0" "696" "0" "c.696dup" "r.0" "p.(Lys233Glnfs*192)" "2" "0000443312" "00017177" "90" "526" "0" "526" "0" "c.526del" "r.0" "p.(Glu176Argfs*99)" "2" "0000443313" "00017177" "10" "1236" "0" "1244" "0" "c.*63_*71dup" "r.(?)" "p.(=)" "2" "0000443314" "00017177" "10" "1236" "0" "1244" "0" "c.*63_*71dup" "r.(?)" "p.(=)" "2" "0000443315" "00017177" "90" "696" "0" "696" "0" "c.696dup" "r.(?)" "p.(Lys233Glnfs*192)" "2" "0000443316" "00017177" "90" "526" "0" "526" "0" "c.526del" "r.(?)" "p.(Glu176Argfs*99)" "2" "0000498190" "00017177" "90" "478" "0" "481" "0" "c.478_481dup" "r.(?)" "p.(Lys161Serfs*51)" "" "0000498191" "00017177" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87*)" "" "0000561487" "00017177" "30" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Glu180=)" "" "0000561488" "00017177" "50" "388" "0" "388" "0" "c.388C>G" "r.(?)" "p.(Arg130Gly)" "" "0000616550" "00017177" "50" "462" "0" "462" "0" "c.462G>C" "r.(?)" "p.(Met154Ile)" "" "0000623674" "00017177" "50" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Tyr308Cys)" "" "0000660095" "00017177" "50" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329Cys)" "" "0000692339" "00017177" "30" "553" "0" "570" "0" "c.553_570dup" "r.(?)" "p.(Glu185_Glu190dup)" "" "0000726357" "00017177" "90" "790" "0" "790" "0" "c.790G>T" "r.(?)" "p.(Glu264*)" "" "0000726358" "00017177" "50" "356" "0" "356" "0" "c.356T>A" "r.(?)" "p.(Val119Asp)" "" "0000726359" "00017177" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Gln72Ter)" "" "0000807961" "00017177" "30" "1170" "0" "1170" "0" "c.1170C>T" "r.(?)" "p.(Asp390=)" "" "0000807962" "00017177" "30" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Glu180=)" "" "0000854887" "00017177" "50" "356" "0" "356" "0" "c.356T>A" "r.(?)" "p.(Val119Asp)" "" "0000865243" "00017177" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Leu336=)" "" "0000865244" "00017177" "30" "462" "0" "462" "0" "c.462G>C" "r.(?)" "p.(Met154Ile)" "" "0000865245" "00017177" "30" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Ile89=)" "" "0000893566" "00017177" "50" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Tyr308Cys)" "" "0000893567" "00017177" "30" "356" "0" "356" "0" "c.356T>A" "r.(?)" "p.(Val119Asp)" "" "0000914812" "00017177" "30" "462" "0" "462" "0" "c.462G>C" "r.(?)" "p.(Met154Ile)" "" "0000926476" "00017177" "30" "55" "0" "55" "0" "c.55G>A" "r.(?)" "p.(Ala19Thr)" "" "0000950875" "00017177" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Gln72Ter)" "" "0001003225" "00017177" "30" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Tyr308Cys)" "" "0001015528" "00017177" "10" "843" "0" "843" "0" "c.843G>A" "r.(?)" "p.(Leu281=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000211706" "0000443307" "0000211707" "0000443308" "0000211708" "0000443309" "0000211709" "0000443310" "0000211710" "0000443311" "0000211710" "0000443312" "0000211711" "0000443313" "0000211712" "0000443314" "0000245982" "0000498190" "0000245983" "0000498191" "0000297493" "0000660095"