### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTS) # 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}}" "PTS" "6-pyruvoyltetrahydropterin synthase" "11" "q22.3" "unknown" "NG_008743.1" "UD_132085262273" "" "https://www.LOVD.nl/PTS" "" "1" "9689" "5805" "612719" "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/PTS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-03 17:31:49" "00006" "2025-08-11 14:20:55" ## 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}}" "00017181" "PTS" "6-pyruvoyltetrahydropterin synthase" "001" "NM_000317.2" "" "NP_000308.1" "" "" "" "-79" "856" "438" "112097088" "112104696" "" "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" "02009" "HPABH4A" "hyperphenylalaninemia, BH4-deficient, type A" "AR" "261640" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-11-07 08:59:08" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "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}}" "PTS" "02009" "PTS" "05683" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00396458" "" "" "" "1" "" "00006" "{PMID:Ellingford 2017:28378820}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15013721" "00402000" "" "" "" "1" "" "00006" "{PMID:Meili 2009:19280650}" "2-generation family, 1 affected, unaffected parents" "M" "" "Switzerland" "" "0" "" "" "" "MD130" "00402001" "" "" "" "1" "" "00006" "{PMID:Meili 2009:19280650}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Morocco" "" "0" "" "" "" "MD96" "00421514" "" "" "" "1" "" "00006" "{PMID:Trujillano 2014:23942198}" "" "" "" "Spain" "" "0" "" "" "" "A2-O" "00421516" "" "" "" "1" "" "00006" "{PMID:Trujillano 2014:23942198}" "" "" "" "Spain" "" "0" "" "" "" "B2-O" "00421518" "" "" "" "1" "" "00006" "{PMID:Trujillano 2014:23942198}" "" "" "" "Spain" "" "0" "" "" "" "C2-O" "00421522" "" "" "" "1" "" "00006" "{PMID:Trujillano 2014:23942198}" "" "" "" "Spain" "" "0" "" "" "" "H1-O" "00452228" "" "" "" "5" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452229" "" "" "" "3" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452230" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452231" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452232" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452233" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00453714" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat141" "00466214" "" "" "" "1" "" "00006" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Spain" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00396458" "00198" "00402000" "05683" "00402001" "05683" "00421514" "05683" "00421516" "05683" "00421518" "05683" "00421522" "05683" "00452228" "00198" "00452229" "00198" "00452230" "00198" "00452231" "00198" "00452232" "00198" "00452233" "00198" "00453714" "02554" "00466214" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02009, 02554, 05683 ## Count = 15 "{{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}}" "0000289619" "00198" "00396458" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "metabolic disprder" "" "0000294763" "05683" "00402000" "00006" "Familial, autosomal recessive" "" "yperphenylalaninaemia, monoamine neurotransmitter deficiency" "" "" "" "" "" "" "" "" "HPABH4A" "hyperphenylalaninemia" "" "0000294764" "05683" "00402001" "00006" "Familial, autosomal recessive" "" "found by neonatal screening" "" "" "" "" "" "" "" "" "HPABH4A" "hyperphenylalaninemia" "" "0000312750" "05683" "00421514" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HPABH4A" "tetrahydrobiopterin deficient hyperphenylalaninemia" "" "0000312752" "05683" "00421516" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HPABH4A" "tetrahydrobiopterin deficient hyperphenylalaninemia" "" "0000312754" "05683" "00421518" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HPABH4A" "tetrahydrobiopterin deficient hyperphenylalaninemia" "" "0000312758" "05683" "00421522" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HPABH4A" "tetrahydrobiopterin deficient hyperphenylalaninemia" "" "0000340831" "00198" "00452228" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "HPABH4A" "tetrahydrobiopterin deficiency" "" "0000340832" "00198" "00452229" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "HPABH4A" "tetrahydrobiopterin deficiency" "" "0000340833" "00198" "00452230" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "HPABH4A" "tetrahydrobiopterin deficiency" "" "0000340834" "00198" "00452231" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "HPABH4A" "tetrahydrobiopterin deficiency" "" "0000340835" "00198" "00452232" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "HPABH4A" "tetrahydrobiopterin deficiency" "" "0000340836" "00198" "00452233" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "HPABH4A" "tetrahydrobiopterin deficiency" "" "0000342371" "02554" "00453714" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "HPABH4A" "inborn error of metabolism" "" "0000351596" "00198" "00466214" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., hyperphenylalaninemia" "" "" "" "" "" "" "" "" "HPABH4A" "new-born screening" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000397698" "00396458" "1" "00006" "00006" "2021-12-15 16:38:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000403241" "00402000" "1" "00006" "00006" "2022-02-03 17:59:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000403242" "00402001" "1" "00006" "00006" "2022-02-03 19:05:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000422825" "00421514" "1" "00006" "00006" "2022-11-07 08:57:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422827" "00421516" "1" "00006" "00006" "2022-11-07 08:57:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422829" "00421518" "1" "00006" "00006" "2022-11-07 08:57:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422833" "00421522" "1" "00006" "00006" "2022-11-07 08:57:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000453830" "00452228" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453831" "00452229" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453832" "00452230" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453833" "00452231" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453834" "00452232" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453835" "00452233" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000455326" "00453714" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000467870" "00466214" "1" "00006" "00006" "2025-08-11 12:22:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000403241" "PTS" "0000403242" "PTS" "0000453830" "PTS" "0000453831" "PTS" "0000453832" "PTS" "0000453833" "PTS" "0000453834" "PTS" "0000453835" "PTS" "0000467870" "PTS" ## 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 = 37 "{{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}}" "0000294601" "0" "10" "11" "112099410" "112099410" "subst" "0.166838" "02330" "PTS_000002" "g.112099410T>C" "" "" "" "PTS(NM_000317.3):c.163+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112228687T>C" "" "benign" "" "0000294602" "0" "10" "11" "112104245" "112104245" "subst" "0.0138428" "02330" "PTS_000006" "g.112104245T>C" "" "" "" "PTS(NM_000317.3):c.405T>C (p.T135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112233522T>C" "" "benign" "" "0000297511" "0" "70" "11" "112100955" "112100955" "dup" "0" "02325" "PTS_000003" "g.112100955dup" "" "" "" "PTS(NM_000317.3):c.186+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112230232dup" "" "likely pathogenic" "" "0000297512" "0" "30" "11" "112104152" "112104152" "subst" "0.00361644" "02325" "PTS_000005" "g.112104152T>C" "" "" "" "PTS(NM_000317.2):c.315-3T>C (p.?), PTS(NM_000317.3):c.315-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112233429T>C" "" "likely benign" "" "0000297513" "0" "30" "11" "112104147" "112104147" "del" "0" "02325" "PTS_000004" "g.112104147del" "" "" "" "PTS(NM_000317.3):c.315-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112233424del" "" "likely benign" "" "0000297514" "0" "30" "11" "112099310" "112099310" "del" "0" "02325" "PTS_000001" "g.112099310del" "" "" "" "PTS(NM_000317.3):c.84-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112228587del" "" "likely benign" "" "0000542365" "0" "30" "11" "112099314" "112099314" "subst" "0" "01804" "PTS_000008" "g.112099314C>T" "" "" "" "PTS(NM_000317.2):c.84-3C>T (p.?), PTS(NM_000317.3):c.84-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112228591C>T" "" "likely benign" "" "0000542366" "0" "30" "11" "112099314" "112099314" "subst" "0" "02325" "PTS_000008" "g.112099314C>T" "" "" "" "PTS(NM_000317.2):c.84-3C>T (p.?), PTS(NM_000317.3):c.84-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112228591C>T" "" "likely benign" "" "0000542367" "0" "30" "11" "112099315" "112099315" "subst" "0" "01804" "PTS_000009" "g.112099315A>T" "" "" "" "PTS(NM_000317.2):c.84-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112228592A>T" "" "likely benign" "" "0000542368" "0" "30" "11" "112099316" "112099316" "subst" "0" "01804" "PTS_000010" "g.112099316G>T" "" "" "" "PTS(NM_000317.2):c.84-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112228593G>T" "" "likely benign" "" "0000542369" "0" "30" "11" "112099318" "112099318" "subst" "0" "01804" "PTS_000011" "g.112099318A>T" "" "" "" "PTS(NM_000317.2):c.85A>T (p.(Lys29Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112228595A>T" "" "likely benign" "" "0000542370" "0" "30" "11" "112104152" "112104152" "subst" "0.00361644" "01804" "PTS_000005" "g.112104152T>C" "" "" "" "PTS(NM_000317.2):c.315-3T>C (p.?), PTS(NM_000317.3):c.315-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112233429T>C" "" "likely benign" "" "0000690930" "0" "30" "11" "112104152" "112104152" "subst" "0.00361644" "01943" "PTS_000005" "g.112104152T>C" "" "" "" "PTS(NM_000317.2):c.315-3T>C (p.?), PTS(NM_000317.3):c.315-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804872" "0" "30" "11" "112101357" "112101357" "subst" "0.0001381" "01943" "PTS_000012" "g.112101357T>C" "" "" "" "PTS(NM_000317.2):c.195T>C (p.P65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000829761" "1" "70" "11" "112097166" "112104279" "del" "0" "00006" "PTS_000013" "g.(?_112097166)_(112104279_?)del" "" "{PMID:Ellingford 2017:28378820}" "" "g.112097117_112104328del" "" "Germline" "" "" "0" "" "" "g.(?_112226443)_(112233556_?)del" "" "likely pathogenic" "" "0000838401" "21" "90" "11" "112100092" "112100146" "del" "0" "00006" "PTS_000014" "g.112100092_112100146del" "" "{PMID:Meili 2009:19280650}" "" "" "variant activates branch point and inclusion of a pseudo-exon; variant not found in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.112229369_112229423del" "" "pathogenic (recessive)" "" "0000838402" "11" "90" "11" "112104233" "112104233" "del" "0" "00006" "PTS_000015" "g.112104233del" "" "{PMID:Meili 2009:19280650}" "" "393delA" "" "Germline" "" "" "0" "" "" "g.112233510del" "" "pathogenic (recessive)" "" "0000838403" "3" "90" "11" "112098994" "112098994" "subst" "0" "00006" "PTS_000016" "g.112098994A>T" "" "{PMID:Meili 2009:19280650}" "" "IVS1-322A>T" "2-3 fold more aberrantly spliced mRNA; variant activated pseudo0exon" "Germline" "" "" "0" "" "" "g.112228271A>T" "" "pathogenic (recessive)" "" "0000898065" "1" "90" "11" "112101349" "112101349" "subst" "1.21854E-5" "00006" "PTS_000020" "g.112101349A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "g.112230626A>G" "" "pathogenic (recessive)" "" "0000898067" "1" "90" "11" "112101362" "112101362" "subst" "6.90501E-5" "00006" "PTS_000021" "g.112101362C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "g.112230639C>T" "" "pathogenic (recessive)" "" "0000898069" "3" "90" "11" "112099388" "112099388" "subst" "0.000110025" "00006" "PTS_000018" "g.112099388A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs104894275" "0" "" "" "g.112228665A>G" "" "pathogenic (recessive)" "" "0000898073" "1" "90" "11" "112099319" "112099319" "subst" "4.4609E-6" "00006" "PTS_000017" "g.112099319A>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "g.112228596A>C" "" "pathogenic (recessive)" "" "0000898075" "2" "90" "11" "112103939" "112103939" "subst" "2.4376E-5" "00006" "PTS_000022" "g.112103939C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "g.112233216C>A" "" "pathogenic (recessive)" "" "0000898076" "2" "90" "11" "112100933" "112100933" "subst" "1.62475E-5" "00006" "PTS_000019" "g.112100933G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs104894277" "0" "" "" "g.112230210G>A" "" "pathogenic (recessive)" "" "0000898077" "2" "90" "11" "112103939" "112103939" "subst" "2.4376E-5" "00006" "PTS_000022" "g.112103939C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "g.112233216C>A" "" "pathogenic (recessive)" "" "0000988592" "0" "90" "11" "112103901" "112103901" "subst" "7.31065E-5" "00006" "PTS_000023" "g.112103901C>T" "5/12 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.112233178C>T" "" "pathogenic" "" "0000988593" "0" "70" "11" "112100933" "112100933" "subst" "1.62475E-5" "00006" "PTS_000019" "g.112100933G>A" "3/12 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.112230210G>A" "" "likely pathogenic" "" "0000988594" "0" "90" "11" "112099388" "112099388" "subst" "0.000110025" "00006" "PTS_000018" "g.112099388A>G" "1/12 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.112228665A>G" "" "pathogenic" "" "0000988595" "0" "50" "11" "112103914" "112103914" "subst" "0" "00006" "PTS_000024" "g.112103914A>G" "1/12 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.112233191A>G" "" "VUS" "" "0000988596" "0" "50" "11" "112103919" "112103919" "subst" "0" "00006" "PTS_000025" "g.112103919C>A" "1/12 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.112233196C>A" "" "VUS" "" "0000988597" "0" "90" "11" "112103928" "112103928" "subst" "0" "00006" "PTS_000026" "g.112103928G>A" "1/12 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.112233205G>A" "" "pathogenic" "" "0001007359" "1" "70" "11" "112101408" "112101408" "subst" "0" "00006" "PTS_000028" "g.112101408A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.112230685A>G" "" "likely pathogenic" "" "0001007428" "2" "70" "11" "112100259" "112100259" "subst" "0" "00006" "PTS_000027" "g.112100259C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.112229536C>T" "" "likely pathogenic" "" "0001038208" "0" "90" "11" "112104210" "112104210" "subst" "6.91411E-5" "01804" "PTS_000029" "g.112104210G>T" "" "" "" "PTS(NM_000317.3):c.370G>T (p.(Val124Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001047270" "21" "50" "11" "112097907" "112097907" "subst" "0" "00006" "PTS_000030" "g.112097907C>G" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "two variants in cis, no data to support effect on splicing of variants individually" "Germline" "" "" "0" "" "" "g.112227184C>G" "" "VUS (!)" "" "0001047271" "21" "50" "11" "112098007" "112098007" "subst" "0" "00006" "PTS_000031" "g.112098007T>A" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "two variants in cis, no data to support effect on splicing of variants individually" "Germline" "" "" "0" "" "" "g.112227284T>A" "" "VUS (!)" "" "0001047272" "11" "70" "11" "112097085" "112097096" "delins" "0" "00006" "PTS_000032" "g.112097085_112097096delins112097064_112097081" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "RNA reduced expression" "Germline" "" "" "0" "" "" "g.112226362_112226373delins112226341_112226358" "" "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 PTS ## Count = 37 "{{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}}" "0000294601" "00017181" "10" "163" "14" "163" "14" "c.163+14T>C" "r.(=)" "p.(=)" "" "0000294602" "00017181" "10" "405" "0" "405" "0" "c.405T>C" "r.(?)" "p.(Thr135=)" "" "0000297511" "00017181" "70" "186" "2" "186" "2" "c.186+2dup" "r.spl?" "p.?" "" "0000297512" "00017181" "30" "315" "-3" "315" "-3" "c.315-3T>C" "r.spl?" "p.?" "" "0000297513" "00017181" "30" "315" "-8" "315" "-8" "c.315-8del" "r.(=)" "p.(=)" "" "0000297514" "00017181" "30" "84" "-7" "84" "-7" "c.84-7del" "r.(=)" "p.(=)" "" "0000542365" "00017181" "30" "84" "-3" "84" "-3" "c.84-3C>T" "r.spl?" "p.?" "" "0000542366" "00017181" "30" "84" "-3" "84" "-3" "c.84-3C>T" "r.spl?" "p.?" "" "0000542367" "00017181" "30" "84" "-2" "84" "-2" "c.84-2A>T" "r.spl?" "p.?" "" "0000542368" "00017181" "30" "84" "-1" "84" "-1" "c.84-1G>T" "r.spl?" "p.?" "" "0000542369" "00017181" "30" "85" "0" "85" "0" "c.85A>T" "r.(?)" "p.(Lys29Ter)" "" "0000542370" "00017181" "30" "315" "-3" "315" "-3" "c.315-3T>C" "r.spl?" "p.?" "" "0000690930" "00017181" "30" "315" "-3" "315" "-3" "c.315-3T>C" "r.spl?" "p.?" "" "0000804872" "00017181" "30" "195" "0" "195" "0" "c.195T>C" "r.(?)" "p.(Pro65=)" "" "0000829761" "00017181" "70" "" "0" "" "0" "c.{0}" "r.0" "p.0" "" "0000838401" "00017181" "90" "163" "696" "163" "750" "c.163+696_163+750del" "r.163_164ins164-766_164-722" "p.(=)" "" "0000838402" "00017181" "90" "393" "0" "393" "0" "c.393del" "r.(?)" "p.(Val132Tyrfs*19)" "" "0000838403" "00017181" "90" "84" "-323" "84" "-323" "c.84-323A>T" "r.[83_84ins84-314_84-236,=]" "p.Ser28fs*" "1i" "0000898065" "00017181" "90" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Ile63Val)" "" "0000898067" "00017181" "90" "200" "0" "200" "0" "c.200C>T" "r.(?)" "p.(Thr67Met)" "" "0000898069" "00017181" "90" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Asn52Ser)" "" "0000898073" "00017181" "90" "86" "0" "86" "0" "c.86A>C" "r.(?)" "p.(Lys29Thr)" "" "0000898075" "00017181" "90" "297" "0" "297" "0" "c.297C>A" "r.(?)" "p.(Tyr99*)" "" "0000898076" "00017181" "90" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "" "0000898077" "00017181" "90" "297" "0" "297" "0" "c.297C>A" "r.(?)" "p.(Tyr99*)" "" "0000988592" "00017181" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Pro87Ser)" "" "0000988593" "00017181" "70" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "" "0000988594" "00017181" "90" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Asn52Ser)" "" "0000988595" "00017181" "50" "272" "0" "272" "0" "c.272A>G" "r.(?)" "p.(Lys91Arg)" "" "0000988596" "00017181" "50" "277" "0" "277" "0" "c.277C>A" "r.(?)" "p.(Leu93Met)" "" "0000988597" "00017181" "90" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Asp96Asn)" "" "0001007359" "00017181" "70" "243" "3" "243" "3" "c.243+3A>G" "r.spl" "p.?" "" "0001007428" "00017181" "70" "164" "-672" "164" "-672" "c.164-672C>T" "r.spl" "p.?" "" "0001038208" "00017181" "90" "370" "0" "370" "0" "c.370G>T" "r.(?)" "p.(Val124Leu)" "" "0001047270" "00017181" "50" "83" "658" "83" "658" "c.83+658C>G" "r.83_83ins83+659_83+755" "p.?" "1i" "0001047271" "00017181" "50" "83" "758" "83" "758" "c.83+758T>A" "r.83_83ins83+659_83+755" "p.?" "" "0001047272" "00017181" "70" "-82" "0" "-71" "0" "c.-82_-71delins-103_-86" "r.=|<1" "p.?" "_1" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000397698" "0000829761" "0000403241" "0000838401" "0000403241" "0000838402" "0000403242" "0000838403" "0000422825" "0000898065" "0000422825" "0000898075" "0000422827" "0000898067" "0000422827" "0000898076" "0000422829" "0000898069" "0000422833" "0000898073" "0000422833" "0000898077" "0000453830" "0000988592" "0000453831" "0000988593" "0000453832" "0000988594" "0000453833" "0000988595" "0000453834" "0000988596" "0000453835" "0000988597" "0000455326" "0001007359" "0000455326" "0001007428" "0000467870" "0001047270" "0000467870" "0001047271" "0000467870" "0001047272"