### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTF1A) # 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}}" "PTF1A" "pancreas specific transcription factor, 1a" "10" "p12.31" "unknown" "NG_009798.1" "UD_132119058577" "" "http://www.LOVD.nl/PTF1A" "" "1" "23734" "256297" "607194" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PTF1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-20 21:15:10" "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}}" "00017095" "PTF1A" "pancreas specific transcription factor, 1a" "001" "NM_178161.2" "" "NP_835455.1" "" "" "" "1" "1333" "987" "23481460" "23483181" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00258" "PACA" "agenesis, pancreatic and cerebellar (PACA)" "AR" "609069" "" "" "" "00006" "2013-10-28 14:29:49" "00006" "2021-12-10 21:51:32" "04138" "PAGEN2" "agenesis, pancreatic, type 2 (PAGEN-2)" "AR" "615935" "" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "PTF1A" "00258" "PTF1A" "04138" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00017900" "" "" "" "3" "" "00705" "{PMID:Weedon 2014:24212882}" "2-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents/sib, sister of 24212882-Fam1PatII4/6" "F" "yes" "Syria" "" "0" "" "" "Syria" "" "00017910" "" "" "00017900" "1" "" "00705" "{PMID:Weedon 2014:24212882}" "" "F" "yes" "Syria" "" "0" "" "" "Syria" "" "00017911" "" "" "00017900" "1" "" "00705" "{PMID:Weedon 2014:24212882}" "" "F" "yes" "Syria" "" "0" "" "" "Syria" "" "00017912" "" "" "" "2" "" "00705" "{PMID:Weedon 2014:24212882}" "2-generation family, 2 affected brothers, unaffected parents" "M" "yes" "Lebanon" "" "0" "" "" "Lebanese" "" "00017913" "" "" "" "2" "" "00705" "{PMID:Weedon 2014:24212882}" "2-generation family, 2 affecteds (father/son), unaffected heterozygous carrier parents, son of 24212882Fam3PatII3" "M" "yes" "" "" "0" "" "" "Kurdish" "" "00017914" "" "" "00017913" "1" "" "00705" "{PMID:Weedon 2014:24212882}" "father" "M" "yes" "" "" "0" "" "" "Kurdish" "" "00017915" "" "" "" "1" "" "00705" "{PMID:Weedon 2014:24212882}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00017916" "" "" "" "1" "" "00705" "{PMID:Weedon 2014:24212882}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00017917" "" "" "" "1" "" "00705" "{PMID:Weedon 2014:24212882}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00017919" "" "" "" "1" "" "00705" "{PMID:Weedon 2014:24212882}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/sibs" "F;M" "yes" "" "" "0" "" "" "Arabic" "" "00017921" "" "" "" "1" "" "00705" "{PMID:Weedon 2014:24212882}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00017922" "" "" "" "1" "" "00705" "{PMID:Weedon 2014:24212882}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "German" "" "00017923" "" "" "" "1" "" "00705" "{PMID:Weedon 2014:24212882}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Costa Rica" "" "0" "" "" "Costa Rican" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00017900" "00258" "00017910" "00258" "00017911" "00258" "00017912" "00258" "00017913" "00258" "00017914" "00258" "00017915" "00258" "00017916" "00258" "00017917" "00258" "00017919" "00258" "00017921" "00258" "00017922" "00258" "00017923" "00258" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00258, 04138 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000016258" "00258" "00017900" "00705" "Familial, autosomal recessive" "" "Born at 36 gestational weeks, Birthweight 1380 g; age onset; Insulin treatment; Exocrine insufficiency; Stool elastase not detectable (<5ug/g); Exocrine insufficiency treatment Pancreatic Enzymes" "" "" "" "" "" "" "" "" "" "0000016261" "00258" "00017910" "00705" "Familial, autosomal recessive" "" "Born at 36 gestational weeks; Birth weight 1900g; Age onset 10y; Insulin treatment; Exocrine insufficiency; Stool elastase not detectable (<5ug/g); Exocrine insufficiency treatment Pancreatic Enzymes;" "" "" "" "" "" "" "" "" "" "0000016262" "00258" "00017911" "00705" "Familial, autosomal recessive" "" "Full term pregnancy; Birth weight 2146g; Age onset 8y; Insulin treatment; Exocrine insufficiency; Stool elastase not detectable (<5ug/g); Exocrine insufficiency treatment Pancreatic Enzymes;" "" "" "" "" "" "" "" "" "" "0000016263" "00258" "00017912" "00705" "Familial, autosomal recessive" "" "Born: 39w; Birth weight: 1750g; Age onset 6m; Insulin treatment; Exocrine insufficiency;" "" "" "" "" "" "" "" "" "" "0000016264" "00258" "00017913" "00705" "Familial, autosomal recessive" "" "Born at 39w; Birth weight: 1890g; Age onset:1d; Insulin treatment; Exocrine insufficiency; Low stool elastase (27.4ug/g); Exocrine insufficiency treatment\r\nPancreatic Enzymes;" "" "" "" "" "" "" "" "" "" "0000016265" "00258" "00017914" "00705" "Familial, autosomal recessive" "" "Age onset 22y; Insulin treatment; Exocrine insufficiency; Low stool elastase (30ug/g)" "" "" "" "" "" "" "" "" "" "0000016266" "00258" "00017915" "00705" "Familial, autosomal recessive" "" "Born at 36w; Birth weight 1500g; Age onset 4w; Insulin treatment; Exocrine insufficiency; Steatorrhoea; Exocrine insufficiency treatment\r\nPancreatic Enzymes; Mild developmental delay" "" "" "" "" "" "" "" "" "" "0000016267" "00258" "00017916" "00705" "Familial, autosomal recessive" "" "Born at 35w; Birth Weight 1650g; Age onset 3w; Insulin treatment; Exocrine insufficiency; Fat in stool/\r\namylase very low; Exocrine insufficiency treatment\r\nPancreatic Enzymes" "" "" "" "" "" "" "" "" "" "0000016268" "00258" "00017917" "00705" "Familial, autosomal recessive" "" "Born at 38w; 1660g Birth Weight; Age onset at life; Insulin treatment; Exocrine insufficiency; Steatorrhoea; Exocrine insufficiency treatment\r\nPancreatic Enzymes" "" "" "" "" "" "" "" "" "" "0000016269" "00258" "00017919" "00705" "Familial, autosomal recessive" "" "Born both 39w; Birth weight 7-1 2800g, 7-8 2400g; Age onset 7-1 4w 7-8 3w; Both insulin treatment; Both Stool elastase not detectable (<5ug/g); Both Exocrine insufficiency treatment Pancreatic Enzymes;" "" "" "" "" "" "" "" "" "" "0000016270" "00258" "00017921" "00705" "Familial, autosomal recessive" "" "age onset 1d; Insulin treatment" "" "" "" "" "" "" "" "" "" "0000016271" "00258" "00017922" "00705" "Familial, autosomal recessive" "" "Born 36w; BW: 1200g; onset 1d; Insulin treatment; Exocrine insufficiency treatment Pancreatic Enzymes; Exocrine insufficiency" "" "" "" "" "" "" "" "" "" "0000016272" "00258" "00017923" "00705" "Familial, autosomal recessive" "" "Born 35w; BW: 1500g; Age onset 1d; Exocrine insufficiency; Insulin treatment; Exocrine insufficiency treatment Pancreatic Enzymes; Fatal cholestatic liver failure" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017888" "00017900" "1" "00705" "00705" "2014-07-15 11:01:50" "" "" "SEQ" "DNA" "" "" "0000017893" "00017910" "1" "00705" "00705" "2014-07-15 14:29:00" "" "" "SEQ" "DNA" "" "" "0000017894" "00017911" "1" "00705" "00705" "2014-07-15 14:43:02" "" "" "SEQ" "DNA" "" "" "0000017895" "00017912" "1" "00705" "00705" "2014-07-15 14:59:05" "" "" "SEQ" "DNA" "" "" "0000017896" "00017913" "1" "00705" "00705" "2014-07-15 15:20:51" "" "" "SEQ" "DNA" "" "" "0000017897" "00017914" "1" "00705" "00705" "2014-07-15 15:35:22" "" "" "SEQ" "DNA" "" "" "0000017898" "00017915" "1" "00705" "00705" "2014-07-15 15:45:05" "" "" "SEQ" "DNA" "" "" "0000017899" "00017916" "1" "00705" "00705" "2014-07-15 15:58:46" "" "" "SEQ" "DNA" "" "" "0000017900" "00017917" "1" "00705" "00705" "2014-07-15 16:04:32" "" "" "SEQ" "DNA" "" "" "0000017902" "00017919" "1" "00705" "00705" "2014-07-15 17:00:45" "00006" "2016-06-20 22:01:57" "PCR;SEQ" "DNA" "" "" "0000017904" "00017921" "1" "00705" "00705" "2014-07-15 17:17:05" "" "" "SEQ" "DNA" "" "" "0000017905" "00017922" "1" "00705" "00705" "2014-07-15 17:28:46" "" "" "SEQ" "DNA" "" "" "0000017906" "00017923" "1" "00705" "00705" "2014-07-15 17:39:57" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000017888" "PTF1A" "0000017893" "PTF1A" "0000017894" "PTF1A" "0000017895" "PTF1A" "0000017896" "PTF1A" "0000017897" "PTF1A" "0000017898" "PTF1A" "0000017899" "PTF1A" "0000017900" "PTF1A" "0000017902" "PTF1A" "0000017904" "PTF1A" "0000017905" "PTF1A" "0000017906" "PTF1A" ## 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 = 27 "{{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}}" "0000038115" "3" "90" "10" "23508437" "23508437" "subst" "0" "00705" "PTF1A_000001" "g.23508437A>G" "" "{PMID:Weedon 2014:24212882}" "" "437A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219508A>G" "" "pathogenic" "" "0000038116" "3" "90" "10" "23508437" "23508437" "subst" "0" "00705" "PTF1A_000001" "g.23508437A>G" "" "{PMID:Weedon 2014:24212882}" "" "437A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219508A>G" "" "pathogenic" "" "0000038117" "3" "90" "10" "23508437" "23508437" "subst" "0" "00705" "PTF1A_000001" "g.23508437A>G" "" "{PMID:Weedon 2014:24212882}" "" "437A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219508A>G" "" "pathogenic" "" "0000038119" "3" "90" "10" "23508437" "23508437" "subst" "0" "00705" "PTF1A_000001" "g.23508437A>G" "" "{PMID:Weedon 2014:24212882}" "" "437A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219508A>G" "" "pathogenic" "" "0000038123" "3" "90" "10" "23508437" "23508437" "subst" "0" "00705" "PTF1A_000001" "g.23508437A>G" "" "{PMID:Weedon 2014:24212882}" "" "437A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219508A>G" "" "pathogenic" "" "0000038124" "3" "90" "10" "23508437" "23508437" "subst" "0" "00705" "PTF1A_000001" "g.23508437A>G" "" "{PMID:Weedon 2014:24212882}" "" "437A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219508A>G" "" "pathogenic" "" "0000038125" "3" "90" "10" "23508437" "23508437" "subst" "0" "00705" "PTF1A_000001" "g.23508437A>G" "" "{PMID:Weedon 2014:24212882}" "" "437A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219508A>G" "" "pathogenic" "" "0000038126" "3" "90" "10" "23508437" "23508437" "subst" "0" "00705" "PTF1A_000001" "g.23508437A>G" "" "{PMID:Weedon 2014:24212882}" "" "437A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219508A>G" "" "pathogenic" "" "0000038127" "3" "90" "10" "23508437" "23508437" "subst" "0" "00705" "PTF1A_000001" "g.23508437A>G" "" "{PMID:Weedon 2014:24212882}" "" "437A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219508A>G" "" "pathogenic" "" "0000038131" "3" "90" "10" "23502416" "23510031" "del" "0" "00705" "PTF1A_000002" "g.23502416_23510031del" "" "{PMID:Weedon 2014:24212882}" "" "chr10:23502416-23510031del" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23213487_23221102del" "" "pathogenic" "" "0000038132" "3" "90" "10" "23508363" "23508363" "subst" "0" "00705" "PTF1A_000003" "g.23508363A>G" "" "{PMID:Weedon 2014:24212882}" "" "363A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219434A>G" "" "pathogenic" "" "0000038133" "11" "90" "10" "23508365" "23508365" "subst" "0" "00705" "PTF1A_000005" "g.23508365A>G" "" "{PMID:Weedon 2014:24212882}" "" "365A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219436A>G" "" "pathogenic" "" "0000038134" "21" "90" "10" "23508446" "23508446" "subst" "0" "00705" "PTF1A_000006" "g.23508446A>C" "" "{PMID:Weedon 2014:24212882}" "" "446A>C" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219517A>C" "" "pathogenic" "" "0000038135" "3" "90" "10" "23508305" "23508305" "subst" "0" "00705" "PTF1A_000004" "g.23508305A>G" "" "{PMID:Weedon 2014:24212882}" "" "305A>G" "abolished enhancer activity" "Germline" "yes" "" "0" "" "" "g.23219376A>G" "" "pathogenic" "" "0000297492" "0" "10" "10" "23482635" "23482635" "subst" "0.55011" "02325" "PTF1A_000009" "g.23482635T>C" "" "" "" "PTF1A(NM_178161.3):c.787T>C (p.S263P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23193706T>C" "" "benign" "" "0000297493" "0" "30" "10" "23481467" "23481467" "subst" "0.000196908" "02325" "PTF1A_000007" "g.23481467C>T" "" "" "" "PTF1A(NM_178161.3):c.8C>T (p.(Ala3Val), p.A3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23192538C>T" "" "likely benign" "" "0000306598" "0" "50" "10" "23481958" "23481958" "subst" "0.00118007" "01943" "PTF1A_000008" "g.23481958G>A" "" "" "" "PTF1A(NM_178161.2):c.499G>A (p.A167T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23193029G>A" "" "VUS" "" "0000539735" "0" "30" "10" "23481720" "23481720" "subst" "0" "01943" "PTF1A_000010" "g.23481720G>A" "" "" "" "PTF1A(NM_178161.2):c.261G>A (p.G87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23192791G>A" "" "likely benign" "" "0000539736" "0" "30" "10" "23481728" "23481728" "subst" "0.000838645" "01804" "PTF1A_000011" "g.23481728G>C" "" "" "" "PTF1A(NM_178161.2):c.269G>C (p.(Gly90Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23192799G>C" "" "likely benign" "" "0000656465" "0" "50" "10" "23482816" "23482816" "dup" "0" "01943" "PTF1A_000014" "g.23482816dup" "" "" "" "PTF1A(NM_178161.2):c.968dupC (p.F324Ifs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23193887dup" "" "VUS" "" "0000690706" "0" "50" "10" "23481754" "23481756" "dup" "0" "01943" "PTF1A_000015" "g.23481754_23481756dup" "" "" "" "PTF1A(NM_178161.2):c.295_297dupGGC (p.G99dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852474" "0" "30" "10" "23481591" "23481591" "subst" "0" "01943" "PTF1A_000016" "g.23481591G>T" "" "" "" "PTF1A(NM_178161.2):c.132G>T (p.A44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861884" "0" "30" "10" "23481921" "23481921" "subst" "0.000527473" "01943" "PTF1A_000017" "g.23481921G>T" "" "" "" "PTF1A(NM_178161.2):c.462G>T (p.R154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978992" "0" "50" "10" "23481467" "23481467" "subst" "0.000196908" "01804" "PTF1A_000007" "g.23481467C>T" "" "" "" "PTF1A(NM_178161.3):c.8C>T (p.(Ala3Val), p.A3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978993" "0" "30" "10" "23481503" "23481503" "subst" "0.000688765" "01804" "PTF1A_000018" "g.23481503C>T" "" "" "" "PTF1A(NM_178161.3):c.44C>T (p.(Ala15Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978994" "0" "50" "10" "23482699" "23482699" "subst" "0.000170578" "01804" "PTF1A_000019" "g.23482699C>A" "" "" "" "PTF1A(NM_178161.3):c.851C>A (p.(Thr284Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037859" "0" "50" "10" "23482187" "23482187" "del" "0" "01804" "PTF1A_000020" "g.23482187del" "" "" "" "PTF1A(NM_178161.3):c.728del (p.(Gly243Alafs*34))" "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 PTF1A ## Count = 27 "{{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}}" "0000038115" "00017095" "90" "26589" "0" "26589" "0" "c.*25602A>G" "r.0?" "p.0?" "2_" "0000038116" "00017095" "90" "26589" "0" "26589" "0" "c.*25602A>G" "r.0?" "p.0?" "2_" "0000038117" "00017095" "90" "26589" "0" "26589" "0" "c.*25602A>G" "r.0?" "p.0?" "2_" "0000038119" "00017095" "90" "26589" "0" "26589" "0" "c.*25602A>G" "r.0?" "p.0?" "2_" "0000038123" "00017095" "90" "26589" "0" "26589" "0" "c.*25602A>G" "r.0?" "p.0?" "2_" "0000038124" "00017095" "90" "26589" "0" "26589" "0" "c.*25602A>G" "r.0?" "p.0?" "2_" "0000038125" "00017095" "90" "26589" "0" "26589" "0" "c.*25602A>G" "r.0?" "p.0?" "2_" "0000038126" "00017095" "90" "26589" "0" "26589" "0" "c.*25602A>G" "r.0?" "p.0?" "2_" "0000038127" "00017095" "90" "26589" "0" "26589" "0" "c.*25602A>G" "r.0?" "p.0?" "2_" "0000038131" "00017095" "90" "20568" "0" "28183" "0" "c.*19581_*27196del" "r.0?" "p.0?" "2_" "0000038132" "00017095" "90" "26515" "0" "26515" "0" "c.*25528A>G" "r.0?" "p.0?" "2_" "0000038133" "00017095" "90" "26517" "0" "26517" "0" "c.*25530A>G" "r.0?" "p.0?" "2_" "0000038134" "00017095" "90" "26598" "0" "26598" "0" "c.*25611A>C" "r.0?" "p.0?" "2_" "0000038135" "00017095" "90" "26457" "0" "26457" "0" "c.*25470A>G" "r.0?" "p.0?" "2_" "0000297492" "00017095" "10" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Ser263Pro)" "" "0000297493" "00017095" "30" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" "" "0000306598" "00017095" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Ala167Thr)" "" "0000539735" "00017095" "30" "261" "0" "261" "0" "c.261G>A" "r.(?)" "p.(Gly87=)" "" "0000539736" "00017095" "30" "269" "0" "269" "0" "c.269G>C" "r.(?)" "p.(Gly90Ala)" "" "0000656465" "00017095" "50" "968" "0" "968" "0" "c.968dup" "r.(?)" "p.(Phe324IlefsTer2)" "" "0000690706" "00017095" "50" "295" "0" "297" "0" "c.295_297dup" "r.(?)" "p.(Gly99dup)" "" "0000852474" "00017095" "30" "132" "0" "132" "0" "c.132G>T" "r.(?)" "p.(Ala44=)" "" "0000861884" "00017095" "30" "462" "0" "462" "0" "c.462G>T" "r.(?)" "p.(Arg154=)" "" "0000978992" "00017095" "50" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" "" "0000978993" "00017095" "30" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Ala15Val)" "" "0000978994" "00017095" "50" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Thr284Asn)" "" "0001037859" "00017095" "50" "728" "0" "728" "0" "c.728del" "r.(?)" "p.(Gly243Alafs*34)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000017888" "0000038115" "0000017893" "0000038116" "0000017894" "0000038117" "0000017895" "0000038119" "0000017896" "0000038123" "0000017897" "0000038124" "0000017898" "0000038125" "0000017899" "0000038126" "0000017900" "0000038127" "0000017902" "0000038131" "0000017904" "0000038132" "0000017905" "0000038133" "0000017905" "0000038134" "0000017906" "0000038135"