### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCK1) # 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}}" "PCK1" "phosphoenolpyruvate carboxykinase 1 (soluble)" "20" "q13.31" "unknown" "NG_008205.1" "UD_132084569830" "" "https://www.LOVD.nl/PCK1" "" "1" "8724" "5105" "614168" "1" "1" "0" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PCK1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-26 21:45:35" "00000" "2024-08-28 13:16:32" ## 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}}" "00015818" "PCK1" "phosphoenolpyruvate carboxykinase 1 (soluble)" "001" "NM_002591.3" "" "NP_002582.3" "" "" "" "-163" "2522" "1869" "56136137" "56141513" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01004" "SMS" "Smith-Magenis syndrome (SMS)" "AD;IC" "182290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02012" "PCKDC" "deficiency, phosphoenolpyruvate carboxykinase, cytosolic (PCKDC)" "AR" "261680" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-12-13 10:38:21" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PCK1" "02012" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00080922" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00151811" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00292957" "" "" "" "73" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304865" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00310676" "" "" "" "2" "" "00006" "{PMID:Adams 2014:24863970}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Jew-Ashkenazi" "FamPatII1" "00324428" "" "" "" "2" "" "03194" "{PMID:Vieira 2017:28216384}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "yes" "Finland" "" "0" "" "dietary precautions" "" "Fam1PatII3/4" "00377066" "" "" "" "1" "" "03194" "{PMID:Vieira 2017:28216384}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Finland" "" "0" "" "" "" "Fam2PatII2" "00431213" "" "" "00310676" "1" "" "00006" "{PMID:Adams 2014:24863970}" "sister" "F" "" "" "" "0" "" "" "Jew-Ashkenazi" "FamPatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00080922" "02012" "00151811" "00198" "00292957" "00198" "00304865" "00198" "00310676" "02012" "00310676" "05611" "00324428" "00198" "00377066" "00198" "00431213" "01004" "00431213" "02012" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01004, 02012, 05611 ## Count = 8 "{{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}}" "0000060491" "02012" "00080922" "01758" "Familial, autosomal recessive" "" "Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency (OMIM:261680)" "" "" "" "" "" "" "" "" "" "" "" "0000124180" "00198" "00151811" "01807" "Unknown" "" "Hypoglycemia (HP:0001943); Increased serum lactate (HP:0002151); Ketosis (HP:0001946)" "" "" "" "" "" "" "" "" "" "" "" "0000235947" "05611" "00310676" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "0000242998" "00198" "00324428" "03194" "Familial, autosomal recessive" "" "neonatal hypoglycemia (HP:0001998), recurrent hypoglycemia (HP:0001988), hypoglycemic coma (HP:0001325)" "" "" "" "" "" "" "" "" "PCKDC" "PEPCK-C deficiency" "" "0000272254" "00198" "00377066" "03194" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PCKDC" "PEPCK-C deficiency" "" "0000321817" "02012" "00310676" "00006" "Familial, autosomal recessive" "" "episodic fasting hypoglycemia, lactic acidemia" "" "" "" "" "" "" "" "" "PCKDC" "" "" "0000321818" "02012" "00431213" "00006" "Familial, autosomal recessive" "" "episodic fasting hypoglycemia, lactic acidemia" "" "" "" "" "" "" "" "" "PCKDC" "" "" "0000321819" "01004" "00431213" "00006" "Isolated (sporadic)" "" "see paper; ..., obesity, brachydactyly, developmental delay, cognitive impairment, behavioral outbursts, sleep disruption, facial appearance" "" "" "" "" "" "" "" "" "Smith-Magenis syndrome" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081034" "00080922" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000152668" "00151811" "0" "01807" "01807" "2018-01-24 21:42:29" "" "" "SEQ" "DNA" "" "" "0000294125" "00292957" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305994" "00304865" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311828" "00310676" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000325618" "00324428" "1" "03194" "03194" "2020-12-12 08:17:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000378272" "00377066" "1" "03194" "03194" "2020-12-12 08:17:41" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000432627" "00431213" "1" "00006" "00006" "2023-02-03 10:55:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000081034" "PCK1" "0000311828" "GRIN2B" ## 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 = 39 "{{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}}" "0000130120" "3" "70" "20" "56138747" "56138747" "subst" "0.00129091" "01758" "PCK1_000001" "g.56138747G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.57563691G>A" "" "likely pathogenic" "ACMG" "0000248720" "0" "10" "20" "56136536" "56136536" "subst" "0.450653" "02325" "PCK1_000003" "g.56136536A>G" "" "" "" "PCK1(NM_002591.4):c.69A>G (p.L23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57561480A>G" "" "benign" "" "0000248721" "0" "10" "20" "56137807" "56137807" "subst" "0.409321" "02325" "PCK1_000007" "g.56137807A>G" "" "" "" "PCK1(NM_002591.4):c.462A>G (p.S154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57562751A>G" "" "benign" "" "0000248722" "0" "10" "20" "56137834" "56137834" "subst" "0.410535" "02325" "PCK1_000008" "g.56137834A>G" "" "" "" "PCK1(NM_002591.4):c.489A>G (p.S163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57562778A>G" "" "benign" "" "0000251151" "0" "10" "20" "56140726" "56140726" "subst" "0.00221418" "02326" "PCK1_000020" "g.56140726A>C" "" "" "" "PCK1(NM_002591.4):c.1735A>C (p.S579R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57565670A>C" "" "benign" "" "0000296797" "0" "10" "20" "56139403" "56139403" "subst" "0.747252" "02325" "PCK1_000013" "g.56139403T>C" "" "" "" "PCK1(NM_002591.4):c.1140T>C (p.G380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57564347T>C" "" "benign" "" "0000296798" "0" "10" "20" "56140084" "56140085" "dup" "0" "02325" "PCK1_000014" "g.56140084_56140085dup" "" "" "" "PCK1(NM_002591.4):c.1319-12_1319-11dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57565028_57565029dup" "" "benign" "" "0000296799" "0" "50" "20" "56140152" "56140152" "subst" "8.12236E-6" "02325" "PCK1_000017" "g.56140152G>A" "" "" "" "PCK1(NM_002591.4):c.1375G>A (p.A459T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57565096G>A" "" "VUS" "" "0000296800" "0" "10" "20" "56137798" "56137798" "subst" "0.377887" "02325" "PCK1_000006" "g.56137798G>A" "" "" "" "PCK1(NM_002591.4):c.453G>A (p.S151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57562742G>A" "" "benign" "" "0000296801" "0" "10" "20" "56137895" "56137895" "subst" "0.840978" "02325" "PCK1_000009" "g.56137895G>C" "" "" "" "PCK1(NM_002591.4):c.550G>C (p.V184L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57562839G>C" "" "benign" "" "0000300656" "0" "10" "20" "56139365" "56139365" "subst" "0.0281581" "02326" "PCK1_000012" "g.56139365G>A" "" "" "" "PCK1(NM_002591.4):c.1102G>A (p.V368I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57564309G>A" "" "benign" "" "0000300657" "0" "10" "20" "56139403" "56139403" "subst" "0.747252" "02326" "PCK1_000013" "g.56139403T>C" "" "" "" "PCK1(NM_002591.4):c.1140T>C (p.G380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57564347T>C" "" "benign" "" "0000300658" "0" "10" "20" "56140085" "56140085" "subst" "0" "02326" "PCK1_000015" "g.56140085T>C" "" "" "" "PCK1(NM_002591.4):c.1319-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57565029T>C" "" "benign" "" "0000300659" "0" "10" "20" "56140090" "56140090" "subst" "0" "02326" "PCK1_000016" "g.56140090C>A" "" "" "" "PCK1(NM_002591.4):c.1319-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57565034C>A" "" "benign" "" "0000300660" "0" "30" "20" "56140439" "56140439" "subst" "0.00178294" "02326" "PCK1_000018" "g.56140439G>A" "" "" "" "PCK1(NM_002591.3):c.1448G>A (p.R483Q), PCK1(NM_002591.4):c.1448G>A (p.R483Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57565383G>A" "" "likely benign" "" "0000300661" "0" "30" "20" "56140633" "56140633" "subst" "0.00149109" "02326" "PCK1_000019" "g.56140633G>A" "" "" "" "PCK1(NM_002591.3):c.1642G>A (p.A548T), PCK1(NM_002591.4):c.1642G>A (p.A548T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57565577G>A" "" "likely benign" "" "0000300662" "0" "10" "20" "56136646" "56136646" "subst" "0.000695484" "02326" "PCK1_000004" "g.56136646T>C" "" "" "" "PCK1(NM_002591.4):c.179T>C (p.M60T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57561590T>C" "" "benign" "" "0000300663" "0" "30" "20" "56137758" "56137758" "subst" "0.0019041" "02326" "PCK1_000005" "g.56137758C>T" "" "" "" "PCK1(NM_002591.3):c.413C>T (p.T138I), PCK1(NM_002591.4):c.413C>T (p.T138I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57562702C>T" "" "likely benign" "" "0000300664" "0" "30" "20" "56136474" "56136474" "subst" "0.0013176" "02326" "PCK1_000002" "g.56136474C>T" "" "" "" "PCK1(NM_002591.4):c.7C>T (p.P3S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57561418C>T" "" "likely benign" "" "0000300665" "0" "30" "20" "56138720" "56138720" "subst" "0.000219407" "02326" "PCK1_000010" "g.56138720C>T" "" "" "" "PCK1(NM_002591.4):c.898C>T (p.L300F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57563664C>T" "" "likely benign" "" "0000300666" "0" "90" "20" "56139224" "56139224" "subst" "1.63035E-5" "02326" "PCK1_000011" "g.56139224G>C" "" "" "" "PCK1(NM_002591.4):c.962-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57564168G>C" "" "pathogenic" "" "0000351492" "0" "70" "20" "56139450" "56139450" "subst" "0" "01807" "PCK1_000021" "g.56139450G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.57564394G>T" "" "likely pathogenic" "" "0000650814" "1" "30" "20" "56139365" "56139365" "subst" "0.0281581" "03575" "PCK1_000012" "g.56139365G>A" "73/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "73 heterozygous; {DB:CLININrs1804160}" "Germline" "" "rs1804160" "0" "" "" "g.57564309G>A" "" "likely benign" "" "0000658782" "0" "30" "20" "56139347" "56139347" "subst" "0" "01943" "PCK1_000024" "g.56139347G>C" "" "" "" "PCK1(NM_002591.3):c.1084G>C (p.E362Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57564291G>C" "" "likely benign" "" "0000669682" "3" "30" "20" "56139365" "56139365" "subst" "0.0281581" "03575" "PCK1_000012" "g.56139365G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs1804160}" "Germline" "" "rs1804160" "0" "" "" "g.57564309G>A" "" "likely benign" "" "0000681654" "0" "30" "20" "56137758" "56137758" "subst" "0.0019041" "01943" "PCK1_000005" "g.56137758C>T" "" "" "" "PCK1(NM_002591.3):c.413C>T (p.T138I), PCK1(NM_002591.4):c.413C>T (p.T138I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693005" "0" "50" "20" "56138114" "56138114" "subst" "2.03508E-5" "01943" "PCK1_000025" "g.56138114C>T" "" "" "" "PCK1(NM_002591.3):c.641C>T (p.P214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693006" "0" "30" "20" "56139268" "56139268" "subst" "1.22153E-5" "01943" "PCK1_000026" "g.56139268C>T" "" "" "" "PCK1(NM_002591.3):c.1005C>T (p.V335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708741" "21" "70" "20" "56138189" "56138189" "subst" "4.07721E-6" "03194" "PCK1_000027" "g.56138189C>T" "" "" "" "" "" "Germline" "yes" "rs139902878" "0" "" "" "g.57563133C>T" "" "likely pathogenic (recessive)" "ACMG" "0000708742" "3" "90" "20" "56138747" "56138747" "subst" "0.00129091" "03194" "PCK1_000001" "g.56138747G>A" "" "{PMID:Vieira 2017:28216384}" "" "" "" "Germline" "yes" "rs201186470" "0" "" "" "g.57563691G>A" "" "pathogenic (recessive)" "ACMG" "0000727758" "0" "50" "20" "56136646" "56136646" "subst" "0.000695484" "02330" "PCK1_000004" "g.56136646T>C" "" "" "" "PCK1(NM_002591.4):c.179T>C (p.M60T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727759" "0" "30" "20" "56140633" "56140633" "subst" "0.00149109" "01943" "PCK1_000019" "g.56140633G>A" "" "" "" "PCK1(NM_002591.3):c.1642G>A (p.A548T), PCK1(NM_002591.4):c.1642G>A (p.A548T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000790982" "3" "90" "20" "56138747" "56138747" "subst" "0.00129091" "03194" "PCK1_000001" "g.56138747G>A" "" "{PMID:Vieira 2017:28216384}" "" "" "" "Germline" "" "rs201186470" "0" "" "" "g.57563691G>A" "" "pathogenic (recessive)" "ACMG" "0000809286" "0" "30" "20" "56136608" "56136608" "subst" "0.00143845" "01943" "PCK1_000022" "g.56136608C>T" "" "" "" "PCK1(NM_002591.3):c.141C>T (p.D47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809287" "0" "50" "20" "56140439" "56140439" "subst" "0.00178294" "01943" "PCK1_000018" "g.56140439G>A" "" "" "" "PCK1(NM_002591.3):c.1448G>A (p.R483Q), PCK1(NM_002591.4):c.1448G>A (p.R483Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918170" "3" "90" "20" "56136601" "56136601" "subst" "8.12565E-5" "00006" "PCK1_000028" "g.56136601T>C" "" "{PMID:Adams 2014:24863970}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000918171" "3" "90" "20" "56136601" "56136601" "subst" "8.12565E-5" "00006" "PCK1_000028" "g.56136601T>C" "" "{PMID:Adams 2014:24863970}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001005478" "0" "50" "20" "56138213" "56138213" "subst" "0" "02327" "PCK1_000029" "g.56138213C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005479" "0" "70" "20" "56139224" "56139224" "subst" "1.63035E-5" "02327" "PCK1_000011" "g.56139224G>C" "" "" "" "PCK1(NM_002591.4):c.962-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 PCK1 ## Count = 39 "{{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}}" "0000130120" "00015818" "70" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Gly309Arg)" "" "0000248720" "00015818" "10" "69" "0" "69" "0" "c.69A>G" "r.(?)" "p.(Leu23=)" "" "0000248721" "00015818" "10" "462" "0" "462" "0" "c.462A>G" "r.(?)" "p.(Ser154=)" "" "0000248722" "00015818" "10" "489" "0" "489" "0" "c.489A>G" "r.(?)" "p.(Ser163=)" "" "0000251151" "00015818" "10" "1735" "0" "1735" "0" "c.1735A>C" "r.(?)" "p.(Ser579Arg)" "" "0000296797" "00015818" "10" "1140" "0" "1140" "0" "c.1140T>C" "r.(?)" "p.(Gly380=)" "" "0000296798" "00015818" "10" "1319" "-12" "1319" "-11" "c.1319-12_1319-11dup" "r.(=)" "p.(=)" "" "0000296799" "00015818" "50" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Ala459Thr)" "" "0000296800" "00015818" "10" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Ser151=)" "" "0000296801" "00015818" "10" "550" "0" "550" "0" "c.550G>C" "r.(?)" "p.(Val184Leu)" "" "0000300656" "00015818" "10" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Ile)" "" "0000300657" "00015818" "10" "1140" "0" "1140" "0" "c.1140T>C" "r.(?)" "p.(Gly380=)" "" "0000300658" "00015818" "10" "1319" "-11" "1319" "-11" "c.1319-11T>C" "r.(=)" "p.(=)" "" "0000300659" "00015818" "10" "1319" "-6" "1319" "-6" "c.1319-6C>A" "r.(=)" "p.(=)" "" "0000300660" "00015818" "30" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483Gln)" "" "0000300661" "00015818" "30" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Ala548Thr)" "" "0000300662" "00015818" "10" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Met60Thr)" "" "0000300663" "00015818" "30" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Thr138Ile)" "" "0000300664" "00015818" "30" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Pro3Ser)" "" "0000300665" "00015818" "30" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Leu300Phe)" "" "0000300666" "00015818" "90" "962" "-1" "962" "-1" "c.962-1G>C" "r.spl?" "p.?" "" "0000351492" "00015818" "70" "1186" "1" "1186" "1" "c.1186+1G>T" "r.spl" "p.?" "" "0000650814" "00015818" "30" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Ile)" "" "0000658782" "00015818" "30" "1084" "0" "1084" "0" "c.1084G>C" "r.(?)" "p.(Glu362Gln)" "" "0000669682" "00015818" "30" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Ile)" "" "0000681654" "00015818" "30" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Thr138Ile)" "" "0000693005" "00015818" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Pro214Leu)" "" "0000693006" "00015818" "30" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Val335=)" "" "0000708741" "00015818" "70" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Ser239Leu)" "" "0000708742" "00015818" "90" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Gly309Arg)" "" "0000727758" "00015818" "50" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Met60Thr)" "" "0000727759" "00015818" "30" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Ala548Thr)" "" "0000790982" "00015818" "90" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Gly309Arg)" "" "0000809286" "00015818" "30" "141" "0" "141" "0" "c.141C>T" "r.(?)" "p.(Asp47=)" "" "0000809287" "00015818" "50" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483Gln)" "" "0000918170" "00015818" "90" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Ile45Thr)" "" "0000918171" "00015818" "90" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Ile45Thr)" "" "0001005478" "00015818" "50" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Ala247Val)" "" "0001005479" "00015818" "70" "962" "-1" "962" "-1" "c.962-1G>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000081034" "0000130120" "0000152668" "0000351492" "0000294125" "0000650814" "0000305994" "0000669682" "0000311828" "0000918170" "0000325618" "0000708741" "0000325618" "0000708742" "0000378272" "0000790982" "0000432627" "0000918171"