### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = QDPR) # 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}}" "QDPR" "quinoid dihydropteridine reductase" "4" "p15.31" "unknown" "NG_008763.1" "UD_132118333200" "" "https://www.LOVD.nl/QDPR" "" "1" "9752" "5860" "612676" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/QDPR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-07 09:02:37" "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}}" "00017243" "QDPR" "quinoid dihydropteridine reductase" "001" "NM_000320.2" "" "NP_000311.2" "" "" "" "-180" "1473" "735" "17513857" "17488016" "" "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}}" "02008" "HPABH4C" "hyperphenylalaninemia, BH4-deficient, type C" "AR" "261630" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-11-07 08:58:28" "05683" "HPA" "hyperphenylalaninemia (HPA)" "AD" "" "" "" "" "00006" "2020-01-06 17:35:01" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "QDPR" "02008" "QDPR" "05683" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00421519" "" "" "" "1" "" "00006" "{PMID:Trujillano 2014:23942198}" "" "" "" "Spain" "" "0" "" "" "" "E1-O" "00421520" "" "" "" "1" "" "00006" "{PMID:Trujillano 2014:23942198}" "" "" "" "Spain" "" "0" "" "" "" "F1-O" "00421521" "" "" "" "1" "" "00006" "{PMID:Trujillano 2014:23942198}" "" "" "" "Spain" "" "0" "" "" "" "G1-O" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00421519" "05683" "00421520" "05683" "00421521" "05683" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02008, 05683 ## Count = 3 "{{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}}" "0000312755" "05683" "00421519" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPABH4C" "tetrahydrobiopterin deficient hyperphenylalaninemia" "0000312756" "05683" "00421520" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPABH4C" "tetrahydrobiopterin deficient hyperphenylalaninemia" "0000312757" "05683" "00421521" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPABH4C" "tetrahydrobiopterin deficient hyperphenylalaninemia" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000422830" "00421519" "1" "00006" "00006" "2022-11-07 08:57:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422831" "00421520" "1" "00006" "00006" "2022-11-07 08:57:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422832" "00421521" "1" "00006" "00006" "2022-11-07 08:57:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 24 "{{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}}" "0000246230" "0" "10" "4" "17488876" "17488876" "subst" "0.00203001" "02330" "QDPR_000001" "g.17488876A>G" "" "" "" "QDPR(NM_000320.3):c.630-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17487253A>G" "" "benign" "" "0000249300" "0" "30" "4" "17488876" "17488876" "subst" "0.00203001" "02325" "QDPR_000001" "g.17488876A>G" "" "" "" "QDPR(NM_000320.3):c.630-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17487253A>G" "" "likely benign" "" "0000294626" "0" "10" "4" "17506042" "17506042" "subst" "0.0407809" "02330" "QDPR_000007" "g.17506042G>A" "" "" "" "QDPR(NM_000320.3):c.255C>T (p.C85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17504419G>A" "" "benign" "" "0000294627" "0" "10" "4" "17503382" "17503382" "subst" "0.282836" "02330" "QDPR_000003" "g.17503382C>T" "" "" "" "QDPR(NM_000320.3):c.396G>A (p.L132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17501759C>T" "" "benign" "" "0000294628" "0" "30" "4" "17503355" "17503355" "subst" "0" "02330" "QDPR_000006" "g.17503355C>T" "" "" "" "QDPR(NM_000320.3):c.423G>A (p.L141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17501732C>T" "" "likely benign" "" "0000294629" "0" "10" "4" "17513582" "17513582" "subst" "0.0109079" "02330" "QDPR_000008" "g.17513582G>A" "" "" "" "QDPR(NM_000320.3):c.96C>T (p.A32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17511959G>A" "" "benign" "" "0000297521" "0" "30" "4" "17513556" "17513556" "subst" "0.0067945" "02325" "QDPR_000005" "g.17513556C>T" "" "" "" "QDPR(NM_000320.3):c.105+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17511933C>T" "" "likely benign" "" "0000297522" "0" "30" "4" "17506013" "17506013" "subst" "0" "02325" "QDPR_000004" "g.17506013G>A" "" "" "" "QDPR(NM_000320.3):c.284C>T (p.A95V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17504390G>A" "" "likely benign" "" "0000297523" "0" "10" "4" "17503382" "17503382" "subst" "0.282836" "02325" "QDPR_000003" "g.17503382C>T" "" "" "" "QDPR(NM_000320.3):c.396G>A (p.L132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17501759C>T" "" "benign" "" "0000297524" "0" "30" "4" "17503355" "17503355" "subst" "0" "02325" "QDPR_000006" "g.17503355C>T" "" "" "" "QDPR(NM_000320.3):c.423G>A (p.L141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17501732C>T" "" "likely benign" "" "0000297525" "0" "30" "4" "17513582" "17513582" "subst" "0.0109079" "02325" "QDPR_000008" "g.17513582G>A" "" "" "" "QDPR(NM_000320.3):c.96C>T (p.A32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17511959G>A" "" "likely benign" "" "0000301328" "0" "90" "4" "17493854" "17493854" "subst" "1.64181E-5" "02326" "QDPR_000002" "g.17493854C>T" "" "" "" "QDPR(NM_000320.3):c.545+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17492231C>T" "" "pathogenic" "" "0000522039" "0" "10" "4" "17503323" "17503323" "subst" "0.00211388" "02330" "QDPR_000009" "g.17503323T>C" "" "" "" "QDPR(NM_000320.3):c.436+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17501700T>C" "" "benign" "" "0000522040" "0" "10" "4" "17503433" "17503433" "subst" "0.0929876" "02330" "QDPR_000010" "g.17503433C>T" "" "" "" "QDPR(NM_000320.3):c.345G>A (p.S115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17501810C>T" "" "benign" "" "0000522041" "0" "10" "4" "17513556" "17513556" "subst" "0.0067945" "02330" "QDPR_000005" "g.17513556C>T" "" "" "" "QDPR(NM_000320.3):c.105+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17511933C>T" "" "benign" "" "0000677238" "0" "90" "4" "17493951" "17493951" "subst" "0" "01943" "QDPR_000011" "g.17493951T>C" "" "" "" "QDPR(NM_000320.2):c.449A>G (p.Y150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719828" "0" "50" "4" "17506098" "17506098" "subst" "0" "01943" "QDPR_000012" "g.17506098C>T" "" "" "" "QDPR(NM_000320.2):c.199G>A (p.V67M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801579" "0" "30" "4" "17493884" "17493884" "subst" "6.13688E-5" "01943" "QDPR_000013" "g.17493884C>G" "" "" "" "QDPR(NM_000320.2):c.516G>C (p.P172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850571" "0" "30" "4" "17506024" "17506024" "subst" "8.12288E-5" "01943" "QDPR_000014" "g.17506024G>A" "" "" "" "QDPR(NM_000320.2):c.273C>T (p.A91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000898070" "3" "90" "4" "17503455" "17503455" "subst" "0" "00006" "QDPR_000015" "g.17503455C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "g.17501832C>T" "" "pathogenic (recessive)" "" "0000898071" "3" "90" "4" "17513573" "17513574" "ins" "0" "00006" "QDPR_000017" "g.17513573_17513574insGC" "" "{PMID:Trujillano 2014:23942198}" "" "105_106insCG" "location of variant uncertain (at start or end of intron)" "Germline" "" "" "0" "" "" "g.17511950_17511951insGC" "" "pathogenic (recessive)" "" "0000898072" "3" "90" "4" "17506099" "17506099" "subst" "0" "00006" "QDPR_000016" "g.17506099C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "g.17504476C>A" "" "pathogenic (recessive)" "" "0000976216" "0" "90" "4" "17493892" "17493892" "subst" "4.08033E-6" "01804" "QDPR_000018" "g.17493892C>T" "" "" "" "QDPR(NM_000320.3):c.508G>A (p.(Gly170Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994185" "0" "10" "4" "17503382" "17503382" "subst" "0.282836" "02326" "QDPR_000003" "g.17503382C>T" "" "" "" "QDPR(NM_000320.3):c.396G>A (p.L132=)" "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 QDPR ## Count = 24 "{{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}}" "0000246230" "00017243" "10" "630" "-17" "630" "-17" "c.630-17T>C" "r.(=)" "p.(=)" "" "0000249300" "00017243" "30" "630" "-17" "630" "-17" "c.630-17T>C" "r.(=)" "p.(=)" "" "0000294626" "00017243" "10" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(Cys85=)" "" "0000294627" "00017243" "10" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Leu132=)" "" "0000294628" "00017243" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Leu141=)" "" "0000294629" "00017243" "10" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Ala32=)" "" "0000297521" "00017243" "30" "105" "17" "105" "17" "c.105+17G>A" "r.(=)" "p.(=)" "" "0000297522" "00017243" "30" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Ala95Val)" "" "0000297523" "00017243" "10" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Leu132=)" "" "0000297524" "00017243" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Leu141=)" "" "0000297525" "00017243" "30" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Ala32=)" "" "0000301328" "00017243" "90" "545" "1" "545" "1" "c.545+1G>A" "r.spl?" "p.?" "" "0000522039" "00017243" "10" "436" "19" "436" "19" "c.436+19A>G" "r.(=)" "p.(=)" "" "0000522040" "00017243" "10" "345" "0" "345" "0" "c.345G>A" "r.(?)" "p.(Ser115=)" "" "0000522041" "00017243" "10" "105" "17" "105" "17" "c.105+17G>A" "r.(=)" "p.(=)" "" "0000677238" "00017243" "90" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Tyr150Cys)" "" "0000719828" "00017243" "50" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Val67Met)" "" "0000801579" "00017243" "30" "516" "0" "516" "0" "c.516G>C" "r.(?)" "p.(Pro172=)" "" "0000850571" "00017243" "30" "273" "0" "273" "0" "c.273C>T" "r.(?)" "p.(Ala91=)" "" "0000898070" "00017243" "90" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Trp108*)" "" "0000898071" "00017243" "90" "105" "0" "105" "1" "c.105_105+1insCG" "p.(W35fs)" "p.(Trp36ArgfsTer22)" "" "0000898072" "00017243" "90" "199" "-1" "199" "-1" "c.199-1G>T" "r.spl" "p.?" "" "0000976216" "00017243" "90" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Ser)" "" "0000994185" "00017243" "10" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Leu132=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000422830" "0000898070" "0000422831" "0000898071" "0000422832" "0000898072"