### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PAPSS2) # 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}}" "PAPSS2" "3\'-phosphoadenosine 5\'-phosphosulfate synthase 2" "10" "q24" "unknown" "NG_012150.1" "UD_132084546357" "" "https://www.LOVD.nl/PAPSS2" "" "1" "8604" "9060" "603005" "1" "1" "1" "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/PAPSS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-07 10:17:42" "00000" "2025-07-08 13:22:38" ## 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}}" "00015654" "PAPSS2" "transcript variant 2" "001" "NM_001015880.1" "" "NP_001015880.1" "" "" "" "-263" "3595" "1860" "89419476" "89507462" "" "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" "03196" "BCYM4" "brachyolmia, type 4, with mild epiphyseal and metaphyseal changes (BCYM-4, spondyloepimetaphyseal dysplasia, Pakistani type)" "AR" "612847" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05346" "SEMD" "dysplasia, spondyloepimetaphyseal (SEMD)" "" "" "" "" "" "00006" "2017-11-17 14:28:27" "" "" "05559" "BCYM" "brachyolmia (BCYM)" "" "" "" "" "" "00006" "2019-02-07 09:57:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PAPSS2" "03196" "PAPSS2" "05559" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00050540" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00218966" "" "" "" "1" "" "01280" "" "" "" "" "" "" "0" "" "" "" "" "00218985" "" "" "" "1" "" "01280" "" "" "" "" "" "" "0" "" "" "" "" "00218986" "" "" "" "1" "" "01280" "" "" "" "" "" "" "0" "" "" "" "" "00218987" "" "" "" "1" "" "01280" "" "" "" "" "" "" "0" "" "" "" "" "00218988" "" "" "" "1" "" "01280" "" "" "" "" "" "" "0" "" "" "" "" "00218989" "" "" "" "1" "" "01280" "" "" "" "" "" "" "0" "" "" "" "" "00218990" "" "" "" "1" "" "01280" "" "" "" "" "" "" "0" "" "" "" "" "00219098" "" "" "" "1" "" "01280" "" "" "" "" "" "" "0" "" "" "" "" "00229436" "" "" "" "1" "" "03019" "" "" "" "" "" "" "0" "" "" "" "" "00229437" "" "" "" "1" "" "03019" "" "" "" "" "" "" "0" "" "" "" "" "00229438" "" "" "" "1" "" "03019" "" "" "" "" "" "" "0" "" "" "" "" "00229439" "" "" "" "1" "" "03019" "" "" "" "" "" "" "0" "" "" "" "" "00229440" "" "" "" "1" "" "03019" "" "" "" "" "" "" "0" "" "" "" "" "00229441" "" "" "" "1" "" "03019" "" "" "" "" "" "" "0" "" "" "" "" "00229442" "" "" "" "1" "" "03019" "" "" "" "" "" "" "0" "" "" "" "" "00229443" "" "" "" "1" "" "03019" "" "" "" "" "" "" "0" "" "" "" "" "00229444" "" "" "" "1" "" "03019" "" "" "" "" "" "" "0" "" "" "" "" "00229445" "" "" "" "1" "" "03019" "" "" "" "" "" "" "0" "" "" "" "" "00290165" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00375201" "" "" "" "2" "" "03894" "" "2-generation family, 2 affected (the proband and her sister) and unaffected heterozygous carrier parents." "F" "no" "China" "" "0" "" "" "Chinese" "" "00426342" "" "" "" "1" "" "01164" "" "" "M" "yes" "Pakistan" "" "0" "" "" "" "209586" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00050540" "00198" "00218966" "05559" "00218985" "05559" "00218986" "05559" "00218987" "05559" "00218988" "05559" "00218989" "05559" "00218990" "05559" "00219098" "05559" "00229436" "05559" "00229437" "05559" "00229438" "05559" "00229439" "05559" "00229440" "05559" "00229441" "05559" "00229442" "05559" "00229443" "05559" "00229444" "05559" "00229445" "05559" "00290165" "00198" "00375201" "05346" "00426342" "03196" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03196, 05346, 05559 ## Count = 13 "{{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}}" "0000037152" "00198" "00050540" "00006" "Isolated (sporadic)" "" "lactose intolerance, recurrent infections in infancy and early childhood, micrognathia, microtia, blepharophimosis, malar flattening, rhizomelic short stature" "" "" "" "" "" "" "" "" "" "" "" "0000172782" "05559" "00229436" "03019" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172783" "05559" "00229437" "03019" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172784" "05559" "00229438" "03019" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172785" "05559" "00229439" "03019" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172786" "05559" "00229440" "03019" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172787" "05559" "00229441" "03019" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172788" "05559" "00229442" "03019" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172789" "05559" "00229443" "03019" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172790" "05559" "00229444" "03019" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172791" "05559" "00229445" "03019" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000270411" "05346" "00375201" "03894" "Familial, autosomal recessive" "" "Short stature" "" "" "" "" "" "" "" "" "" "" "" "0000317494" "03196" "00426342" "01164" "Familial, autosomal recessive" "31y" "Short stature, Platyspondyly" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050485" "00050540" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000220038" "00218966" "1" "01280" "01280" "2019-02-04 14:50:38" "" "" "SEQ-NG" "DNA" "" "" "0000220057" "00218985" "1" "01280" "01280" "2019-02-05 11:49:39" "" "" "SEQ-NG" "DNA" "" "" "0000220058" "00218986" "1" "01280" "01280" "2019-02-05 11:56:55" "" "" "SEQ-NG" "DNA" "" "" "0000220059" "00218987" "1" "01280" "01280" "2019-02-05 12:01:20" "" "" "SEQ-NG" "DNA" "" "" "0000220060" "00218988" "1" "01280" "01280" "2019-02-05 12:04:33" "" "" "SEQ-NG" "DNA" "" "" "0000220061" "00218989" "1" "01280" "01280" "2019-02-05 12:07:28" "" "" "SEQ-NG" "DNA" "" "" "0000220062" "00218990" "1" "01280" "01280" "2019-02-05 12:11:57" "" "" "SEQ-NG" "DNA" "" "" "0000220170" "00219098" "1" "01280" "01280" "2019-02-05 15:41:12" "" "" "SEQ-NG" "DNA" "" "" "0000230531" "00229436" "1" "03019" "03019" "2013-05-21 09:18:12" "" "" "SEQ" "DNA" "" "" "0000230532" "00229437" "1" "03019" "03019" "2013-05-21 09:15:48" "" "" "SEQ" "DNA" "" "" "0000230533" "00229438" "1" "03019" "03019" "2013-05-20 10:11:18" "03019" "2013-05-21 09:22:11" "SEQ" "DNA" "" "" "0000230534" "00229439" "1" "03019" "03019" "2013-05-21 08:48:32" "" "" "SEQ" "DNA" "" "" "0000230535" "00229440" "1" "03019" "03019" "2013-05-21 09:21:01" "" "" "SEQ" "DNA" "" "" "0000230536" "00229441" "1" "03019" "03019" "2013-05-21 08:51:13" "" "" "SEQ" "DNA" "" "" "0000230537" "00229442" "1" "03019" "03019" "2013-05-21 08:53:55" "" "" "SEQ" "DNA" "" "" "0000230538" "00229443" "1" "03019" "03019" "2013-05-21 09:13:07" "" "" "SEQ" "DNA" "" "" "0000230539" "00229444" "1" "03019" "03019" "2013-05-21 08:43:17" "" "" "SEQ" "DNA" "" "" "0000230540" "00229445" "1" "03019" "03019" "2013-05-21 09:08:16" "" "" "SEQ" "DNA" "" "" "0000291333" "00290165" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000376395" "00375201" "1" "03894" "03894" "2021-05-30 08:33:38" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000427662" "00426342" "1" "01164" "01164" "2022-11-28 17:20:24" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000050485" "PAPSS2" "0000230531" "PAPSS2" "0000230532" "PAPSS2" "0000230533" "PAPSS2" "0000230534" "PAPSS2" "0000230535" "PAPSS2" "0000230536" "PAPSS2" "0000230537" "PAPSS2" "0000230538" "PAPSS2" "0000230539" "PAPSS2" "0000230540" "PAPSS2" "0000376395" "PAPSS2" "0000427662" "PAPSS2" ## 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 = 169 "{{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}}" "0000079465" "11" "90" "10" "89473067" "89473067" "subst" "0" "00006" "PAPSS2_000011" "g.89473067G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.87713310G>C" "" "pathogenic" "" "0000079673" "21" "90" "10" "89475544" "89475544" "subst" "0.000317145" "00006" "PAPSS2_000012" "g.89475544G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.87715787G>A" "" "pathogenic" "" "0000249148" "0" "10" "10" "89420789" "89420789" "subst" "0" "02325" "PAPSS2_000013" "g.89420789A>G" "" "" "" "PAPSS2(NM_001015880.2):c.27+1024A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87661032A>G" "" "benign" "" "0000345934" "0" "90" "10" "89475544" "89475544" "subst" "0.000317145" "02327" "PAPSS2_000012" "g.89475544G>A" "" "" "" "PAPSS2(NM_001015880.1):c.809G>A (p.(Gly270Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87715787G>A" "" "pathogenic" "" "0000454922" "0" "90" "10" "89475544" "89475544" "subst" "0.000317145" "01280" "PAPSS2_000012" "g.89475544G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87715787G>A" "" "pathogenic (recessive)" "ACMG" "0000454924" "0" "50" "10" "89473805" "89473805" "subst" "4.06997E-6" "01280" "PAPSS2_000015" "g.89473805G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87714048G>C" "" "VUS" "ACMG" "0000454950" "3" "90" "10" "89469046" "89469046" "subst" "2.03297E-5" "01280" "PAPSS2_000014" "g.89469046C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87709289C>T" "" "pathogenic" "ACMG" "0000454951" "3" "90" "10" "89487160" "89487160" "subst" "3.66506E-5" "01280" "PAPSS2_000017" "g.89487160C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87727403C>T" "" "pathogenic" "ACMG" "0000454952" "3" "50" "10" "89503385" "89503385" "subst" "0" "01280" "PAPSS2_000018" "g.89503385C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87743628C>T" "" "VUS" "ACMG" "0000454953" "3" "90" "10" "89504880" "89504880" "del" "0" "01280" "PAPSS2_000010" "g.89504880del" "" "" "" "1613delG" "" "Germline" "" "" "0" "" "" "g.87745123del" "" "pathogenic" "ACMG" "0000454954" "3" "50" "10" "89475582" "89475582" "subst" "0" "01280" "PAPSS2_000016" "g.89475582T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87715825T>G" "" "VUS" "ACMG" "0000454955" "3" "90" "10" "89475544" "89475544" "subst" "0.000317145" "01280" "PAPSS2_000012" "g.89475544G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87715787G>A" "" "pathogenic" "ACMG" "0000455087" "1" "90" "10" "89475544" "89475544" "subst" "0.000317145" "01280" "PAPSS2_000012" "g.89475544G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87715787G>A" "" "pathogenic" "ACMG" "0000455088" "2" "90" "10" "89503293" "89503293" "del" "0" "01280" "PAPSS2_000019" "g.89503293del" "" "" "" "1386delG" "" "Germline" "" "" "0" "" "" "g.87743536del" "" "pathogenic" "ACMG" "0000472096" "3" "95" "10" "89419768" "89419768" "subst" "0" "03019" "PAPSS2_000008" "g.89419768A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87660011A>C" "" "pathogenic" "" "0000472097" "3" "95" "10" "89469053" "89469053" "subst" "0" "03019" "PAPSS2_000007" "g.89469053G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87709296G>A" "" "pathogenic" "" "0000472098" "10" "95" "10" "89472913" "89472913" "subst" "0" "03019" "PAPSS2_000001" "g.89472913T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87713156T>A" "" "pathogenic" "" "0000472099" "3" "95" "10" "89473023" "89473023" "dup" "0" "03019" "PAPSS2_000004" "g.89473023dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87713266dup" "" "pathogenic" "" "0000472100" "3" "95" "10" "89473058" "89473058" "del" "0" "03019" "PAPSS2_000009" "g.89473058del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87713301del" "" "pathogenic" "" "0000472101" "21" "95" "10" "89473941" "89473941" "subst" "0" "03019" "PAPSS2_000002" "g.89473941T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87714184T>A" "" "pathogenic" "" "0000472102" "3" "95" "10" "89473941" "89473941" "subst" "0" "03019" "PAPSS2_000002" "g.89473941T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87714184T>A" "" "pathogenic" "" "0000472103" "3" "95" "10" "89473941" "89473941" "subst" "0" "03019" "PAPSS2_000002" "g.89473941T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87714184T>A" "" "pathogenic" "" "0000472104" "3" "95" "10" "89474610" "89474611" "dup" "0" "03019" "PAPSS2_000006" "g.89474610_89474611dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87714853_87714854dup" "" "pathogenic" "" "0000472105" "3" "75" "10" "89501128" "89501128" "subst" "0" "03019" "PAPSS2_000003" "g.89501128G>A" "" "" "" "" "predicted abolition of donor site and exon skipping of exon 10" "Germline" "" "" "0" "" "" "g.87741371G>A" "" "likely pathogenic" "" "0000472106" "3" "95" "10" "89504886" "89504886" "subst" "0" "03019" "PAPSS2_000005" "g.89504886T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87745129T>A" "" "pathogenic" "" "0000541345" "0" "10" "10" "89468953" "89468953" "subst" "0.0132488" "01804" "PAPSS2_000020" "g.89468953G>A" "" "" "" "PAPSS2(NM_001015880.1):c.28G>A (p.(Glu10Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87709196G>A" "" "benign" "" "0000541346" "0" "10" "10" "89469099" "89469102" "del" "0" "01804" "PAPSS2_000021" "g.89469099_89469102del" "" "" "" "PAPSS2(NM_001015880.1):c.145+14_145+17del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87709342_87709345del" "" "benign" "" "0000541347" "0" "30" "10" "89469101" "89469102" "del" "0" "01804" "PAPSS2_000022" "g.89469101_89469102del" "" "" "" "PAPSS2(NM_001015880.1):c.145+31_145+32del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87709344_87709345del" "" "likely benign" "" "0000541348" "0" "30" "10" "89472888" "89472888" "subst" "0.000194968" "01804" "PAPSS2_000023" "g.89472888T>C" "" "" "" "PAPSS2(NM_001015880.1):c.202T>C (p.(Ser68Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713131T>C" "" "likely benign" "" "0000541349" "0" "30" "10" "89472953" "89472953" "subst" "0.00162978" "01804" "PAPSS2_000024" "g.89472953C>T" "" "" "" "PAPSS2(NM_001015880.1):c.267C>T (p.(Leu89=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713196C>T" "" "likely benign" "" "0000541350" "0" "50" "10" "89472955" "89472955" "subst" "0" "01804" "PAPSS2_000025" "g.89472955G>A" "" "" "" "PAPSS2(NM_001015880.1):c.269G>A (p.(Gly90Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713198G>A" "" "VUS" "" "0000541352" "0" "30" "10" "89473061" "89473061" "subst" "0" "01804" "PAPSS2_000027" "g.89473061C>T" "" "" "" "PAPSS2(NM_001015880.1):c.375C>T (p.F125=, p.(Phe125=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713304C>T" "" "likely benign" "" "0000541353" "0" "30" "10" "89473063" "89473063" "subst" "0" "01804" "PAPSS2_000028" "g.89473063C>A" "" "" "" "PAPSS2(NM_001015880.1):c.377C>A (p.(Ala126Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713306C>A" "" "likely benign" "" "0000541354" "0" "30" "10" "89473067" "89473069" "del" "0" "01804" "PAPSS2_000029" "g.89473067_89473069del" "" "" "" "PAPSS2(NM_001015880.1):c.381_381+2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713310_87713312del" "" "likely benign" "" "0000541355" "0" "70" "10" "89473068" "89473068" "subst" "0" "01804" "PAPSS2_000030" "g.89473068G>A" "" "" "" "PAPSS2(NM_001015880.1):c.381+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713311G>A" "" "likely pathogenic" "" "0000541356" "0" "30" "10" "89473070" "89473091" "dup" "0" "01804" "PAPSS2_000031" "g.89473070_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+2_381+3insAAAAAAAAAAAAAAAAAAAAAA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713313_87713334dup" "" "likely benign" "" "0000541357" "0" "30" "10" "89473077" "89473091" "dup" "0" "01804" "PAPSS2_000032" "g.89473077_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+10_381+24dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713320_87713334dup" "" "likely benign" "" "0000541358" "0" "30" "10" "89473080" "89473091" "dup" "0" "01804" "PAPSS2_000033" "g.89473080_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+2_381+3insAAAAAAAAAAAA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713323_87713334dup" "" "likely benign" "" "0000541359" "0" "30" "10" "89473081" "89473091" "dup" "0" "01804" "PAPSS2_000034" "g.89473081_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+14_381+24dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713324_87713334dup" "" "likely benign" "" "0000541360" "0" "30" "10" "89473086" "89473091" "dup" "0" "01804" "PAPSS2_000035" "g.89473086_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+19_381+24dup (p.?), PAPSS2(NM_001015880.2):c.381+19_381+24dupAAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713329_87713334dup" "" "likely benign" "" "0000541361" "0" "30" "10" "89473087" "89473091" "dup" "0" "01804" "PAPSS2_000036" "g.89473087_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+20_381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+20_381+24dupAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713330_87713334dup" "" "likely benign" "" "0000541362" "0" "30" "10" "89473088" "89473091" "dup" "0" "01804" "PAPSS2_000037" "g.89473088_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+21_381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+22_381+25dupAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713331_87713334dup" "" "likely benign" "" "0000541363" "0" "30" "10" "89473089" "89473091" "del" "0" "01804" "PAPSS2_000038" "g.89473089_89473091del" "" "" "" "PAPSS2(NM_001015880.1):c.381+22_381+24del (p.(=)), PAPSS2(NM_001015880.2):c.381+22_381+24delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713332_87713334del" "" "likely benign" "" "0000541364" "0" "30" "10" "89473089" "89473091" "dup" "0" "01804" "PAPSS2_000039" "g.89473089_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+22_381+24dup (p.?), PAPSS2(NM_001015880.1):c.381+23_381+25dupAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713332_87713334dup" "" "likely benign" "" "0000541365" "0" "30" "10" "89473090" "89473091" "del" "0" "01804" "PAPSS2_000040" "g.89473090_89473091del" "" "" "" "PAPSS2(NM_001015880.1):c.381+23_381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+23_381+24delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713333_87713334del" "" "likely benign" "" "0000541366" "0" "30" "10" "89473090" "89473091" "dup" "0" "01804" "PAPSS2_000041" "g.89473090_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+23_381+24dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713333_87713334dup" "" "likely benign" "" "0000541367" "0" "30" "10" "89473091" "89473091" "del" "0" "01804" "PAPSS2_000042" "g.89473091del" "" "" "" "PAPSS2(NM_001015880.1):c.381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+24delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713334del" "" "likely benign" "" "0000541368" "0" "30" "10" "89473091" "89473091" "dup" "0" "01804" "PAPSS2_000043" "g.89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+24dupA, PAPSS2(NM_001015880.2):c.381+24dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87713334dup" "" "likely benign" "" "0000541369" "0" "30" "10" "89473896" "89473896" "subst" "0.00232717" "01804" "PAPSS2_000044" "g.89473896C>T" "" "" "" "PAPSS2(NM_001015880.1):c.477C>T (p.(Asp159=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87714139C>T" "" "likely benign" "" "0000541370" "0" "30" "10" "89473949" "89473949" "subst" "8.19303E-5" "01804" "PAPSS2_000045" "g.89473949T>C" "" "" "" "PAPSS2(NM_001015880.1):c.520+10T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87714192T>C" "" "likely benign" "" "0000541371" "0" "50" "10" "89474535" "89474535" "subst" "0" "01943" "PAPSS2_000046" "g.89474535C>T" "" "" "" "PAPSS2(NM_001015880.1):c.554C>T (p.P185L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87714778C>T" "" "VUS" "" "0000541372" "0" "30" "10" "89474777" "89474777" "subst" "8.13246E-5" "01804" "PAPSS2_000047" "g.89474777C>T" "" "" "" "PAPSS2(NM_001015880.1):c.675C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87715020C>T" "" "likely benign" "" "0000541373" "0" "30" "10" "89474807" "89474807" "subst" "8.13041E-6" "01804" "PAPSS2_000048" "g.89474807C>T" "" "" "" "PAPSS2(NM_001015880.1):c.705C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87715050C>T" "" "likely benign" "" "0000541374" "0" "30" "10" "89475478" "89475478" "subst" "2.03666E-5" "01804" "PAPSS2_000049" "g.89475478G>A" "" "" "" "PAPSS2(NM_001015880.1):c.754-11G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87715721G>A" "" "likely benign" "" "0000541375" "0" "30" "10" "89475576" "89475576" "subst" "0.0022094" "01804" "PAPSS2_000050" "g.89475576A>T" "" "" "" "PAPSS2(NM_001015880.1):c.841A>T (p.(Met281Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87715819A>T" "" "likely benign" "" "0000541376" "0" "30" "10" "89487046" "89487046" "subst" "0.0080825" "01804" "PAPSS2_000051" "g.89487046G>A" "" "" "" "PAPSS2(NM_001015880.1):c.886G>A (p.(Val296Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87727289G>A" "" "likely benign" "" "0000541377" "0" "30" "10" "89487165" "89487165" "subst" "2.03623E-5" "01804" "PAPSS2_000052" "g.89487165C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1005C>T (p.(Asp335=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87727408C>T" "" "likely benign" "" "0000541378" "0" "50" "10" "89501112" "89501112" "subst" "0.000138161" "01804" "PAPSS2_000053" "g.89501112A>G" "" "" "" "PAPSS2(NM_001015880.1):c.1207A>G (p.(Lys403Glu)), PAPSS2(NM_001015880.2):c.1207A>G (p.K403E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87741355A>G" "" "VUS" "" "0000541379" "0" "30" "10" "89503308" "89503308" "subst" "0.000101834" "01804" "PAPSS2_000054" "g.89503308C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1401C>T (p.(His467=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87743551C>T" "" "likely benign" "" "0000541381" "0" "50" "10" "89504780" "89504780" "subst" "6.93815E-5" "01804" "PAPSS2_000056" "g.89504780C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1513C>T (p.R505W, p.(Arg505Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87745023C>T" "" "VUS" "" "0000541382" "0" "30" "10" "89504981" "89504981" "subst" "4.19939E-6" "01804" "PAPSS2_000057" "g.89504981C>A" "" "" "" "PAPSS2(NM_001015880.1):c.1714C>A (p.(Pro572Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87745224C>A" "" "likely benign" "" "0000541383" "0" "50" "10" "89505635" "89505635" "subst" "4.06511E-6" "01804" "PAPSS2_000058" "g.89505635G>A" "" "" "" "PAPSS2(NM_001015880.1):c.1768G>A (p.(Ala590Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87745878G>A" "" "VUS" "" "0000541384" "0" "30" "10" "89505716" "89505718" "del" "0" "01804" "PAPSS2_000059" "g.89505716_89505718del" "" "" "" "PAPSS2(NM_001015880.1):c.1849_1851del (p.(Glu617del)), PAPSS2(NM_001015880.2):c.1849_1851delGAG (p.E617del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87745959_87745961del" "" "likely benign" "" "0000622450" "0" "30" "10" "89474550" "89474550" "subst" "4.06659E-6" "01943" "PAPSS2_000060" "g.89474550G>T" "" "" "" "PAPSS2(NM_001015880.1):c.569G>T (p.R190L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87714793G>T" "" "likely benign" "" "0000648022" "1" "10" "10" "89487046" "89487046" "subst" "0.0080825" "03575" "PAPSS2_000051" "g.89487046G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs45467596}" "Germline" "" "rs45467596" "0" "" "" "g.87727289G>A" "" "benign" "" "0000678945" "0" "30" "10" "89473085" "89473091" "dup" "0" "01804" "PAPSS2_000061" "g.89473085_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+18_381+24dup (p.?), PAPSS2(NM_001015880.2):c.381+18_381+24dupAAAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678946" "0" "30" "10" "89473088" "89473091" "dup" "0" "01943" "PAPSS2_000037" "g.89473088_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+21_381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+22_381+25dupAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690817" "0" "30" "10" "89473091" "89473091" "del" "0" "01943" "PAPSS2_000042" "g.89473091del" "" "" "" "PAPSS2(NM_001015880.1):c.381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+24delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690818" "0" "50" "10" "89504780" "89504780" "subst" "6.93815E-5" "01943" "PAPSS2_000056" "g.89504780C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1513C>T (p.R505W, p.(Arg505Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722989" "0" "70" "10" "89469046" "89469046" "subst" "2.03297E-5" "01804" "PAPSS2_000014" "g.89469046C>T" "" "" "" "PAPSS2(NM_001015880.1):c.121C>T (p.(Arg41Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722990" "0" "50" "10" "89472951" "89472951" "subst" "2.43815E-5" "01804" "PAPSS2_000062" "g.89472951C>G" "" "" "" "PAPSS2(NM_001015880.1):c.265C>G (p.(Leu89Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722991" "0" "10" "10" "89473061" "89473061" "subst" "0" "01943" "PAPSS2_000027" "g.89473061C>T" "" "" "" "PAPSS2(NM_001015880.1):c.375C>T (p.F125=, p.(Phe125=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722992" "0" "30" "10" "89473083" "89473091" "dup" "0" "01943" "PAPSS2_000063" "g.89473083_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+17_381+25dupAAAAAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722993" "0" "10" "10" "89473088" "89473091" "del" "0" "01943" "PAPSS2_000064" "g.89473088_89473091del" "" "" "" "PAPSS2(NM_001015880.1):c.381+21_381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+21_381+24delAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722994" "0" "10" "10" "89473089" "89473091" "dup" "0" "01943" "PAPSS2_000039" "g.89473089_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+22_381+24dup (p.?), PAPSS2(NM_001015880.1):c.381+23_381+25dupAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722995" "0" "30" "10" "89473090" "89473091" "del" "0" "01943" "PAPSS2_000040" "g.89473090_89473091del" "" "" "" "PAPSS2(NM_001015880.1):c.381+23_381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+23_381+24delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787991" "3" "90" "10" "89474814" "89474814" "subst" "1.62628E-5" "03894" "PAPSS2_000065" "g.89474814C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000804598" "0" "30" "10" "89473087" "89473091" "dup" "0" "01943" "PAPSS2_000036" "g.89473087_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+20_381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+20_381+24dupAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804599" "0" "30" "10" "89473091" "89473091" "dup" "0" "01943" "PAPSS2_000043" "g.89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+24dupA, PAPSS2(NM_001015880.2):c.381+24dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804600" "0" "30" "10" "89501072" "89501072" "subst" "0.000605465" "01943" "PAPSS2_000066" "g.89501072C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1167C>T (p.D389=, p.(Asp389=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852614" "0" "90" "10" "89469046" "89469046" "subst" "2.03297E-5" "02327" "PAPSS2_000014" "g.89469046C>T" "" "" "" "PAPSS2(NM_001015880.1):c.121C>T (p.(Arg41Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862025" "0" "30" "10" "89468939" "89468939" "subst" "4.06438E-6" "01804" "PAPSS2_000067" "g.89468939G>C" "" "" "" "PAPSS2(NM_001015880.1):c.28-14G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862026" "0" "30" "10" "89469087" "89469087" "subst" "0" "01804" "PAPSS2_000068" "g.89469087T>C" "" "" "" "PAPSS2(NM_001015880.1):c.145+17T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862027" "0" "30" "10" "89469101" "89469102" "dup" "0" "01804" "PAPSS2_000069" "g.89469101_89469102dup" "" "" "" "PAPSS2(NM_001015880.1):c.145+31_145+32dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862028" "0" "50" "10" "89472879" "89472879" "subst" "3.24942E-5" "01804" "PAPSS2_000070" "g.89472879T>C" "" "" "" "PAPSS2(NM_001015880.1):c.193T>C (p.(Tyr65His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862029" "0" "30" "10" "89472962" "89472962" "subst" "0.00609211" "01804" "PAPSS2_000071" "g.89472962T>C" "" "" "" "PAPSS2(NM_001015880.1):c.276T>C (p.(Ser92=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862030" "0" "30" "10" "89473062" "89473062" "subst" "0" "01804" "PAPSS2_000072" "g.89473062G>A" "" "" "" "PAPSS2(NM_001015880.1):c.376G>A (p.(Ala126Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862031" "0" "30" "10" "89473068" "89473068" "subst" "0" "01804" "PAPSS2_000073" "g.89473068G>T" "" "" "" "PAPSS2(NM_001015880.1):c.381+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862032" "0" "30" "10" "89473068" "89473069" "del" "0" "01804" "PAPSS2_000074" "g.89473068_89473069del" "" "" "" "PAPSS2(NM_001015880.1):c.381+1_381+2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862033" "0" "30" "10" "89473070" "89473070" "subst" "0" "01804" "PAPSS2_000075" "g.89473070A>T" "" "" "" "PAPSS2(NM_001015880.1):c.381+3A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862034" "0" "30" "10" "89473078" "89473091" "dup" "0" "01804" "PAPSS2_000076" "g.89473078_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+11_381+24dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862035" "0" "50" "10" "89473079" "89473091" "dup" "0" "01804" "PAPSS2_000077" "g.89473079_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+12_381+24dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862036" "0" "30" "10" "89473088" "89473091" "del" "0" "01804" "PAPSS2_000064" "g.89473088_89473091del" "" "" "" "PAPSS2(NM_001015880.1):c.381+21_381+24del (p.(=)), PAPSS2(NM_001015880.1):c.381+21_381+24delAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862037" "0" "10" "10" "89473090" "89473091" "ins" "0" "01804" "PAPSS2_000078" "g.89473090_89473091insGAAAAAAAAAAAA" "" "" "" "PAPSS2(NM_001015880.1):c.381+11_381+12insAAAAAAAAAAAAG (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862038" "0" "30" "10" "89473946" "89473946" "subst" "0" "01804" "PAPSS2_000079" "g.89473946G>A" "" "" "" "PAPSS2(NM_001015880.1):c.520+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862039" "0" "30" "10" "89474593" "89474593" "subst" "0.000361909" "01804" "PAPSS2_000080" "g.89474593C>T" "" "" "" "PAPSS2(NM_001015880.1):c.612C>T (p.(His204=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862040" "0" "50" "10" "89474778" "89474778" "subst" "1.62632E-5" "01804" "PAPSS2_000081" "g.89474778G>A" "" "" "" "PAPSS2(NM_001015880.1):c.676G>A (p.(Glu226Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862041" "0" "30" "10" "89474792" "89474792" "subst" "8.13187E-6" "01804" "PAPSS2_000082" "g.89474792G>A" "" "" "" "PAPSS2(NM_001015880.1):c.690G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862042" "0" "30" "10" "89474811" "89474811" "subst" "5.6918E-5" "01804" "PAPSS2_000083" "g.89474811G>A" "" "" "" "PAPSS2(NM_001015880.1):c.709G>A (p.(Val237Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862043" "0" "30" "10" "89474859" "89474859" "subst" "0.000830944" "01804" "PAPSS2_000084" "g.89474859A>C" "" "" "" "PAPSS2(NM_001015880.1):c.753+4A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862044" "0" "30" "10" "89475518" "89475518" "subst" "6.91349E-5" "01804" "PAPSS2_000085" "g.89475518C>T" "" "" "" "PAPSS2(NM_001015880.1):c.783C>T (p.(Ser261=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862045" "0" "30" "10" "89475572" "89475572" "subst" "8.1365E-6" "01804" "PAPSS2_000086" "g.89475572G>A" "" "" "" "PAPSS2(NM_001015880.1):c.837G>A (p.(Gln279=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862046" "0" "30" "10" "89481497" "89481497" "subst" "0.00015006" "01804" "PAPSS2_000087" "g.89481497G>A" "" "" "" "PAPSS2(NM_001015880.1):c.866-16G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862047" "0" "50" "10" "89487065" "89487065" "subst" "0" "01804" "PAPSS2_000088" "g.89487065C>T" "" "" "" "PAPSS2(NM_001015880.1):c.905C>T (p.(Pro302Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862048" "0" "30" "10" "89487166" "89487166" "subst" "3.6656E-5" "01804" "PAPSS2_000089" "g.89487166G>A" "" "" "" "PAPSS2(NM_001015880.1):c.1006G>A (p.(Ala336Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862049" "0" "30" "10" "89500973" "89500973" "subst" "4.06626E-6" "01804" "PAPSS2_000090" "g.89500973A>G" "" "" "" "PAPSS2(NM_001015880.1):c.1087-19A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862050" "0" "30" "10" "89501072" "89501072" "subst" "0.000605465" "01804" "PAPSS2_000066" "g.89501072C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1167C>T (p.D389=, p.(Asp389=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862051" "0" "50" "10" "89503198" "89503198" "subst" "0.00012625" "01804" "PAPSS2_000091" "g.89503198C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1291C>T (p.(Arg431Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862052" "0" "30" "10" "89503199" "89503199" "subst" "3.66563E-5" "01804" "PAPSS2_000092" "g.89503199G>A" "" "" "" "PAPSS2(NM_001015880.1):c.1292G>A (p.(Arg431His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862053" "0" "30" "10" "89503257" "89503257" "subst" "0.000374242" "01804" "PAPSS2_000093" "g.89503257C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1350C>T (p.(Gly450=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862054" "0" "30" "10" "89503310" "89503310" "subst" "0.000961444" "01943" "PAPSS2_000094" "g.89503310C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1403C>T (p.A468V, p.(Ala468Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862055" "0" "30" "10" "89503310" "89503310" "subst" "0.000961444" "01804" "PAPSS2_000094" "g.89503310C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1403C>T (p.A468V, p.(Ala468Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862056" "0" "30" "10" "89503368" "89503368" "subst" "7.7735E-5" "01804" "PAPSS2_000095" "g.89503368G>A" "" "" "" "PAPSS2(NM_001015880.1):c.1461G>A (p.(Pro487=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862057" "0" "30" "10" "89504824" "89504824" "subst" "1.22024E-5" "01804" "PAPSS2_000096" "g.89504824T>C" "" "" "" "PAPSS2(NM_001015880.1):c.1557T>C (p.(Pro519=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862058" "0" "30" "10" "89504954" "89504954" "subst" "0" "01804" "PAPSS2_000097" "g.89504954G>A" "" "" "" "PAPSS2(NM_001015880.1):c.1687G>A (p.(Ala563Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862059" "0" "30" "10" "89505573" "89505573" "subst" "4.06795E-5" "01804" "PAPSS2_000098" "g.89505573T>G" "" "" "" "PAPSS2(NM_001015880.1):c.1722-16T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862060" "0" "50" "10" "89505608" "89505608" "subst" "2.84564E-5" "01804" "PAPSS2_000099" "g.89505608A>C" "" "" "" "PAPSS2(NM_001015880.1):c.1741A>C (p.(Ile581Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862061" "0" "30" "10" "89505621" "89505621" "subst" "8.13087E-6" "01804" "PAPSS2_000100" "g.89505621G>A" "" "" "" "PAPSS2(NM_001015880.1):c.1754G>A (p.(Arg585Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862062" "0" "30" "10" "89505641" "89505641" "subst" "4.06468E-5" "01804" "PAPSS2_000101" "g.89505641G>A" "" "" "" "PAPSS2(NM_001015880.1):c.1774G>A (p.(Glu592Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862063" "0" "30" "10" "89505650" "89505650" "subst" "3.25124E-5" "01804" "PAPSS2_000102" "g.89505650A>G" "" "" "" "PAPSS2(NM_001015880.1):c.1783A>G (p.(Asn595Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862064" "0" "30" "10" "89505664" "89505664" "subst" "1.62543E-5" "01804" "PAPSS2_000103" "g.89505664C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1797C>T (p.(Gly599=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889289" "0" "30" "10" "89472887" "89472887" "subst" "0" "01804" "PAPSS2_000104" "g.89472887C>A" "" "" "" "PAPSS2(NM_001015880.1):c.201C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889290" "0" "30" "10" "89475596" "89475596" "subst" "0.000366644" "01804" "PAPSS2_000105" "g.89475596A>G" "" "" "" "PAPSS2(NM_001015880.1):c.861A>G (p.(Leu287=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889291" "0" "30" "10" "89501087" "89501087" "subst" "0" "01804" "PAPSS2_000106" "g.89501087A>C" "" "" "" "PAPSS2(NM_001015880.1):c.1182A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889292" "0" "50" "10" "89503177" "89503177" "subst" "0" "01804" "PAPSS2_000107" "g.89503177G>A" "" "" "" "PAPSS2(NM_001015880.1):c.1270G>A (p.(Ala424Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905098" "3" "90" "10" "89474814" "89474814" "subst" "1.62628E-5" "01164" "PAPSS2_000065" "g.89474814C>T" "" "PMID: 35261200" "" "" "ACMG: PVS1, PM3, PM2_SUP" "Germline" "-" "" "" "" "" "" "VCV000932326.11" "pathogenic (recessive)" "ACMG" "0000913345" "0" "10" "10" "89473089" "89473091" "del" "0" "02325" "PAPSS2_000038" "g.89473089_89473091del" "" "" "" "PAPSS2(NM_001015880.1):c.381+22_381+24del (p.(=)), PAPSS2(NM_001015880.2):c.381+22_381+24delAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913346" "0" "50" "10" "89474585" "89474585" "subst" "4.06616E-6" "01804" "PAPSS2_000108" "g.89474585T>C" "" "" "" "PAPSS2(NM_004670.3):c.604T>C (p.(Cys202Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913347" "0" "30" "10" "89474869" "89474869" "subst" "0" "01804" "PAPSS2_000109" "g.89474869G>A" "" "" "" "PAPSS2(NM_001015880.1):c.753+14G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913348" "0" "50" "10" "89501079" "89501079" "subst" "1.62526E-5" "01804" "PAPSS2_000110" "g.89501079C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1174C>T (p.(Arg392Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913349" "0" "50" "10" "89501095" "89501095" "subst" "4.06312E-6" "01804" "PAPSS2_000111" "g.89501095A>C" "" "" "" "PAPSS2(NM_004670.3):c.1175A>C (p.(Glu392Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913350" "0" "50" "10" "89503336" "89503336" "subst" "0" "01804" "PAPSS2_000112" "g.89503336G>T" "" "" "" "PAPSS2(NM_001015880.1):c.1429G>T (p.(Asp477Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925211" "0" "50" "10" "89503132" "89503132" "subst" "5.73451E-5" "01804" "PAPSS2_000113" "g.89503132G>A" "" "" "" "PAPSS2(NM_001015880.1):c.1225G>A (p.(Ala409Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925212" "0" "50" "10" "89503180" "89503180" "subst" "0" "01804" "PAPSS2_000114" "g.89503180C>A" "" "" "" "PAPSS2(NM_001015880.1):c.1273C>A (p.(Leu425Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925213" "0" "30" "10" "89504929" "89504929" "subst" "8.13206E-6" "01804" "PAPSS2_000115" "g.89504929A>G" "" "" "" "PAPSS2(NM_001015880.1):c.1662A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929714" "0" "90" "10" "89469068" "89469068" "subst" "0" "02325" "PAPSS2_000116" "g.89469068C>G" "" "" "" "PAPSS2(NM_001015880.2):c.143C>G (p.T48R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929716" "0" "50" "10" "89501112" "89501112" "subst" "0.000138161" "02325" "PAPSS2_000053" "g.89501112A>G" "" "" "" "PAPSS2(NM_001015880.1):c.1207A>G (p.(Lys403Glu)), PAPSS2(NM_001015880.2):c.1207A>G (p.K403E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929717" "0" "30" "10" "89503182" "89503182" "subst" "0" "01804" "PAPSS2_000117" "g.89503182G>C" "" "" "" "PAPSS2(NM_001015880.1):c.1275G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929718" "0" "50" "10" "89505716" "89505718" "del" "0" "02325" "PAPSS2_000059" "g.89505716_89505718del" "" "" "" "PAPSS2(NM_001015880.1):c.1849_1851del (p.(Glu617del)), PAPSS2(NM_001015880.2):c.1849_1851delGAG (p.E617del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949458" "0" "30" "10" "89473074" "89473074" "subst" "0" "01804" "PAPSS2_000118" "g.89473074A>G" "" "" "" "PAPSS2(NM_001015880.1):c.381+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949459" "0" "50" "10" "89473816" "89473816" "subst" "0.000109855" "01804" "PAPSS2_000119" "g.89473816C>T" "" "" "" "PAPSS2(NM_001015880.1):c.397C>T (p.(Arg133Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949460" "0" "50" "10" "89473817" "89473817" "subst" "1.62772E-5" "01804" "PAPSS2_000120" "g.89473817G>A" "" "" "" "PAPSS2(NM_001015880.1):c.398G>A (p.(Arg133His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949461" "0" "30" "10" "89503218" "89503218" "subst" "4.06951E-6" "01804" "PAPSS2_000121" "g.89503218G>A" "" "" "" "PAPSS2(NM_001015880.1):c.1311G>A (p.(Arg437=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965903" "0" "50" "10" "89469007" "89469007" "subst" "0" "01804" "PAPSS2_000122" "g.89469007A>G" "" "" "" "PAPSS2(NM_001015880.1):c.82A>G (p.(Asn28Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965904" "0" "10" "10" "89473082" "89473091" "dup" "0" "01804" "PAPSS2_000123" "g.89473082_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+15_381+24dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965905" "0" "50" "10" "89503367" "89503367" "subst" "1.22709E-5" "01804" "PAPSS2_000124" "g.89503367C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1460C>T (p.(Pro487Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965906" "0" "30" "10" "89504955" "89504955" "subst" "0" "01804" "PAPSS2_000125" "g.89504955C>T" "" "" "" "PAPSS2(NM_001015880.1):c.1688C>T (p.(Ala563Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979206" "0" "30" "10" "89468985" "89468985" "subst" "4.06306E-6" "01804" "PAPSS2_000126" "g.89468985T>C" "" "" "" "PAPSS2(NM_001015880.1):c.60T>C (p.(Tyr20=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979207" "0" "50" "10" "89472880" "89472880" "subst" "0.000450846" "01804" "PAPSS2_000127" "g.89472880A>G" "" "" "" "PAPSS2(NM_001015880.2):c.194A>G (p.(Tyr65Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979208" "0" "50" "10" "89472987" "89472987" "subst" "4.06507E-6" "01804" "PAPSS2_000128" "g.89472987C>T" "" "" "" "PAPSS2(NM_001015880.2):c.301C>T (p.(Arg101Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979209" "0" "90" "10" "89475544" "89475544" "subst" "0.000317145" "01804" "PAPSS2_000012" "g.89475544G>A" "" "" "" "PAPSS2(NM_001015880.1):c.809G>A (p.(Gly270Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998583" "0" "50" "10" "89475552" "89475552" "subst" "1.62674E-5" "02325" "PAPSS2_000129" "g.89475552C>T" "" "" "" "PAPSS2(NM_001015880.2):c.817C>T (p.R273W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998584" "0" "30" "10" "89487252" "89487252" "subst" "0" "01804" "PAPSS2_000130" "g.89487252T>C" "" "" "" "PAPSS2(NM_001015880.1):c.1086+6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014668" "0" "30" "10" "89473086" "89473091" "dup" "0" "02325" "PAPSS2_000035" "g.89473086_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+19_381+24dup (p.?), PAPSS2(NM_001015880.2):c.381+19_381+24dupAAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014669" "0" "30" "10" "89487142" "89487142" "subst" "2.44264E-5" "01804" "PAPSS2_000131" "g.89487142C>T" "" "" "" "PAPSS2(NM_001015880.1):c.982C>T (p.(Arg328Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014670" "0" "50" "10" "89503298" "89503298" "subst" "0" "01804" "PAPSS2_000132" "g.89503298T>G" "" "" "" "PAPSS2(NM_001015880.1):c.1391T>G (p.(Met464Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025781" "0" "30" "10" "89473085" "89473091" "dup" "0" "02325" "PAPSS2_000061" "g.89473085_89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+18_381+24dup (p.?), PAPSS2(NM_001015880.2):c.381+18_381+24dupAAAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025782" "0" "30" "10" "89473087" "89473091" "del" "0" "01804" "PAPSS2_000133" "g.89473087_89473091del" "" "" "" "PAPSS2(NM_001015880.1):c.381+20_381+24del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025783" "0" "50" "10" "89475553" "89475553" "subst" "2.03326E-5" "01804" "PAPSS2_000134" "g.89475553G>A" "" "" "" "PAPSS2(NM_001015880.1):c.818G>A (p.(Arg273Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025784" "0" "50" "10" "89487228" "89487228" "subst" "0" "01804" "PAPSS2_000135" "g.89487228A>G" "" "" "" "PAPSS2(NM_001015880.1):c.1068A>G (p.(Thr356=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038065" "0" "50" "10" "89473068" "89473069" "ins" "0" "01804" "PAPSS2_000136" "g.89473068_89473069insGAA" "" "" "" "PAPSS2(NM_001015880.1):c.381+1_381+2insGAA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038066" "0" "50" "10" "89473068" "89473069" "ins" "0" "01804" "PAPSS2_000137" "g.89473068_89473069insGAAA" "" "" "" "PAPSS2(NM_001015880.1):c.381+1_381+2insGAAA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038067" "0" "50" "10" "89473069" "89473069" "subst" "0" "01804" "PAPSS2_000138" "g.89473069T>A" "" "" "" "PAPSS2(NM_001015880.1):c.381+2T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038068" "0" "50" "10" "89473069" "89473069" "subst" "0" "01804" "PAPSS2_000139" "g.89473069T>G" "" "" "" "PAPSS2(NM_001015880.1):c.381+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038069" "0" "50" "10" "89473069" "89473070" "del" "0" "01804" "PAPSS2_000141" "g.89473069_89473070del" "" "" "" "PAPSS2(NM_001015880.1):c.381+2_381+3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038070" "0" "50" "10" "89473069" "89473069" "del" "0" "01804" "PAPSS2_000140" "g.89473069del" "" "" "" "PAPSS2(NM_001015880.1):c.381+2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038071" "0" "30" "10" "89473091" "89473091" "dup" "0" "02325" "PAPSS2_000043" "g.89473091dup" "" "" "" "PAPSS2(NM_001015880.1):c.381+24dup (p.(=)), PAPSS2(NM_001015880.1):c.381+24dupA, PAPSS2(NM_001015880.2):c.381+24dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038072" "0" "50" "10" "89487224" "89487224" "subst" "0" "01804" "PAPSS2_000142" "g.89487224G>C" "" "" "" "PAPSS2(NM_001015880.1):c.1064G>C (p.(Cys355Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046251" "0" "30" "10" "89468973" "89468973" "subst" "0" "01804" "PAPSS2_000143" "g.89468973C>T" "" "" "" "PAPSS2(NM_001015880.1):c.48C>T (p.(Thr16=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 PAPSS2 ## Count = 169 "{{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}}" "0000079465" "00015654" "00" "381" "0" "381" "0" "c.381G>C" "r.(?)" "p.(Lys127Asn)" "" "0000079673" "00015654" "00" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Gly270Asp)" "" "0000249148" "00015654" "10" "27" "1024" "27" "1024" "c.27+1024A>G" "r.(=)" "p.(=)" "" "0000345934" "00015654" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Gly270Asp)" "" "0000454922" "00015654" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Gly270Asp)" "" "0000454924" "00015654" "50" "386" "0" "386" "0" "c.386G>C" "r.(?)" "p.(Arg129Pro)" "" "0000454950" "00015654" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41*)" "" "0000454951" "00015654" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334*)" "" "0000454952" "00015654" "50" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Ala493Val)" "" "0000454953" "00015654" "90" "1613" "0" "1613" "0" "c.1613del" "r.(?)" "p.(Gly538Alafs*4)" "" "0000454954" "00015654" "50" "847" "0" "847" "0" "c.847T>G" "r.(?)" "p.(Phe283Val)" "" "0000454955" "00015654" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Gly270Asp)" "" "0000455087" "00015654" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Gly270Asp)" "" "0000455088" "00015654" "90" "1386" "0" "1386" "0" "c.1386del" "r.(?)" "p.(Trp462Cysfs*3)" "" "0000472096" "00015654" "95" "27" "3" "27" "3" "c.27+3A>C" "r.spl?" "p.?" "1i" "0000472097" "00015654" "95" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Cys43Tyr)" "2" "0000472098" "00015654" "95" "227" "0" "227" "0" "c.227T>A" "r.(?)" "p.(Leu76Gln)" "3" "0000472099" "00015654" "95" "337" "0" "337" "0" "c.337dup" "r.(?)" "p.(Ala113Glyfs*18)" "3" "0000472100" "00015654" "95" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Phe125Serfs*24)" "3" "0000472101" "00015654" "95" "520" "2" "520" "2" "c.520+2T>A" "r.spl?" "p.(Arg129Leufs*25)" "4i" "0000472102" "00015654" "95" "520" "2" "520" "2" "c.520+2T>A" "r.spl?" "p.(Arg129Leufs*25)" "4i" "0000472103" "00015654" "95" "520" "2" "520" "2" "c.520+2T>A" "r.spl?" "p.(Arg129Leufs*25)" "4i" "0000472104" "00015654" "95" "629" "0" "630" "0" "c.629_630dup" "r.(?)" "p.(Gln211Cysfs*11)" "5" "0000472105" "00015654" "75" "1222" "1" "1222" "1" "c.1222+1G>A" "r.spl" "p.?" "10i" "0000472106" "00015654" "95" "1619" "0" "1619" "0" "c.1619T>A" "r.(?)" "p.(Val540Asp)" "12" "0000541345" "00015654" "10" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Glu10Lys)" "" "0000541346" "00015654" "10" "145" "29" "145" "32" "c.145+29_145+32del" "r.(=)" "p.(=)" "" "0000541347" "00015654" "30" "145" "31" "145" "32" "c.145+31_145+32del" "r.(=)" "p.(=)" "" "0000541348" "00015654" "30" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Ser68Pro)" "" "0000541349" "00015654" "30" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(Leu89=)" "" "0000541350" "00015654" "50" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Gly90Glu)" "" "0000541352" "00015654" "30" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(Phe125=)" "" "0000541353" "00015654" "30" "377" "0" "377" "0" "c.377C>A" "r.(?)" "p.(Ala126Glu)" "" "0000541354" "00015654" "30" "381" "0" "381" "2" "c.381_381+2del" "r.spl?" "p.?" "" "0000541355" "00015654" "70" "381" "1" "381" "1" "c.381+1G>A" "r.spl?" "p.?" "" "0000541356" "00015654" "30" "381" "3" "381" "24" "c.381+3_381+24dup" "r.spl?" "p.?" "" "0000541357" "00015654" "30" "381" "10" "381" "24" "c.381+10_381+24dup" "r.(=)" "p.(=)" "" "0000541358" "00015654" "30" "381" "13" "381" "24" "c.381+13_381+24dup" "r.(=)" "p.(=)" "" "0000541359" "00015654" "30" "381" "14" "381" "24" "c.381+14_381+24dup" "r.(=)" "p.(=)" "" "0000541360" "00015654" "30" "381" "19" "381" "24" "c.381+19_381+24dup" "r.(=)" "p.(=)" "" "0000541361" "00015654" "30" "381" "20" "381" "24" "c.381+20_381+24dup" "r.(=)" "p.(=)" "" "0000541362" "00015654" "30" "381" "21" "381" "24" "c.381+21_381+24dup" "r.(=)" "p.(=)" "" "0000541363" "00015654" "30" "381" "22" "381" "24" "c.381+22_381+24del" "r.(=)" "p.(=)" "" "0000541364" "00015654" "30" "381" "22" "381" "24" "c.381+22_381+24dup" "r.(=)" "p.(=)" "" "0000541365" "00015654" "30" "381" "23" "381" "24" "c.381+23_381+24del" "r.(=)" "p.(=)" "" "0000541366" "00015654" "30" "381" "23" "381" "24" "c.381+23_381+24dup" "r.(=)" "p.(=)" "" "0000541367" "00015654" "30" "381" "24" "381" "24" "c.381+24del" "r.(=)" "p.(=)" "" "0000541368" "00015654" "30" "381" "24" "381" "24" "c.381+24dup" "r.(=)" "p.(=)" "" "0000541369" "00015654" "30" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.(Asp159=)" "" "0000541370" "00015654" "30" "520" "10" "520" "10" "c.520+10T>C" "r.(=)" "p.(=)" "" "0000541371" "00015654" "50" "554" "0" "554" "0" "c.554C>T" "r.(?)" "p.(Pro185Leu)" "" "0000541372" "00015654" "30" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(His225=)" "" "0000541373" "00015654" "30" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Asp235=)" "" "0000541374" "00015654" "30" "754" "-11" "754" "-11" "c.754-11G>A" "r.(=)" "p.(=)" "" "0000541375" "00015654" "30" "841" "0" "841" "0" "c.841A>T" "r.(?)" "p.(Met281Leu)" "" "0000541376" "00015654" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Val296Met)" "" "0000541377" "00015654" "30" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Asp335=)" "" "0000541378" "00015654" "50" "1207" "0" "1207" "0" "c.1207A>G" "r.(?)" "p.(Lys403Glu)" "" "0000541379" "00015654" "30" "1401" "0" "1401" "0" "c.1401C>T" "r.(?)" "p.(His467=)" "" "0000541381" "00015654" "50" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Arg505Trp)" "" "0000541382" "00015654" "30" "1714" "0" "1714" "0" "c.1714C>A" "r.(?)" "p.(Pro572Thr)" "" "0000541383" "00015654" "50" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Ala590Thr)" "" "0000541384" "00015654" "30" "1849" "0" "1851" "0" "c.1849_1851del" "r.(?)" "p.(Glu617del)" "" "0000622450" "00015654" "30" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Arg190Leu)" "" "0000648022" "00015654" "10" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Val296Met)" "" "0000678945" "00015654" "30" "381" "18" "381" "24" "c.381+18_381+24dup" "r.(=)" "p.(=)" "" "0000678946" "00015654" "30" "381" "21" "381" "24" "c.381+21_381+24dup" "r.(=)" "p.(=)" "" "0000690817" "00015654" "30" "381" "24" "381" "24" "c.381+24del" "r.(=)" "p.(=)" "" "0000690818" "00015654" "50" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Arg505Trp)" "" "0000722989" "00015654" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41*)" "" "0000722990" "00015654" "50" "265" "0" "265" "0" "c.265C>G" "r.(?)" "p.(Leu89Val)" "" "0000722991" "00015654" "10" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(Phe125=)" "" "0000722992" "00015654" "30" "381" "16" "381" "24" "c.381+16_381+24dup" "r.(=)" "p.(=)" "" "0000722993" "00015654" "10" "381" "21" "381" "24" "c.381+21_381+24del" "r.(=)" "p.(=)" "" "0000722994" "00015654" "10" "381" "22" "381" "24" "c.381+22_381+24dup" "r.(=)" "p.(=)" "" "0000722995" "00015654" "30" "381" "23" "381" "24" "c.381+23_381+24del" "r.(=)" "p.(=)" "" "0000787991" "00015654" "90" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238*)" "" "0000804598" "00015654" "30" "381" "20" "381" "24" "c.381+20_381+24dup" "r.(=)" "p.(=)" "" "0000804599" "00015654" "30" "381" "24" "381" "24" "c.381+24dup" "r.(=)" "p.(=)" "" "0000804600" "00015654" "30" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(Asp389=)" "" "0000852614" "00015654" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41*)" "" "0000862025" "00015654" "30" "28" "-14" "28" "-14" "c.28-14G>C" "r.(=)" "p.(=)" "" "0000862026" "00015654" "30" "145" "17" "145" "17" "c.145+17T>C" "r.(=)" "p.(=)" "" "0000862027" "00015654" "30" "145" "31" "145" "32" "c.145+31_145+32dup" "r.(=)" "p.(=)" "" "0000862028" "00015654" "50" "193" "0" "193" "0" "c.193T>C" "r.(?)" "p.(Tyr65His)" "" "0000862029" "00015654" "30" "276" "0" "276" "0" "c.276T>C" "r.(?)" "p.(Ser92=)" "" "0000862030" "00015654" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Ala126Thr)" "" "0000862031" "00015654" "30" "381" "1" "381" "1" "c.381+1G>T" "r.spl?" "p.?" "" "0000862032" "00015654" "30" "381" "1" "381" "2" "c.381+1_381+2del" "r.spl?" "p.?" "" "0000862033" "00015654" "30" "381" "3" "381" "3" "c.381+3A>T" "r.spl?" "p.?" "" "0000862034" "00015654" "30" "381" "11" "381" "24" "c.381+11_381+24dup" "r.(=)" "p.(=)" "" "0000862035" "00015654" "50" "381" "12" "381" "24" "c.381+12_381+24dup" "r.(=)" "p.(=)" "" "0000862036" "00015654" "30" "381" "21" "381" "24" "c.381+21_381+24del" "r.(=)" "p.(=)" "" "0000862037" "00015654" "10" "381" "23" "381" "24" "c.381+23_381+24insGAAAAAAAAAAAA" "r.(=)" "p.(=)" "" "0000862038" "00015654" "30" "520" "7" "520" "7" "c.520+7G>A" "r.(=)" "p.(=)" "" "0000862039" "00015654" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(His204=)" "" "0000862040" "00015654" "50" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Glu226Lys)" "" "0000862041" "00015654" "30" "690" "0" "690" "0" "c.690G>A" "r.(?)" "p.(Pro230=)" "" "0000862042" "00015654" "30" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Val237Ile)" "" "0000862043" "00015654" "30" "753" "4" "753" "4" "c.753+4A>C" "r.spl?" "p.?" "" "0000862044" "00015654" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(Ser261=)" "" "0000862045" "00015654" "30" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Gln279=)" "" "0000862046" "00015654" "30" "866" "-16" "866" "-16" "c.866-16G>A" "r.(=)" "p.(=)" "" "0000862047" "00015654" "50" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "" "0000862048" "00015654" "30" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Ala336Thr)" "" "0000862049" "00015654" "30" "1087" "-19" "1087" "-19" "c.1087-19A>G" "r.(=)" "p.(=)" "" "0000862050" "00015654" "30" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(Asp389=)" "" "0000862051" "00015654" "50" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Cys)" "" "0000862052" "00015654" "30" "1292" "0" "1292" "0" "c.1292G>A" "r.(?)" "p.(Arg431His)" "" "0000862053" "00015654" "30" "1350" "0" "1350" "0" "c.1350C>T" "r.(?)" "p.(Gly450=)" "" "0000862054" "00015654" "30" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Ala468Val)" "" "0000862055" "00015654" "30" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Ala468Val)" "" "0000862056" "00015654" "30" "1461" "0" "1461" "0" "c.1461G>A" "r.(?)" "p.(Pro487=)" "" "0000862057" "00015654" "30" "1557" "0" "1557" "0" "c.1557T>C" "r.(?)" "p.(Pro519=)" "" "0000862058" "00015654" "30" "1687" "0" "1687" "0" "c.1687G>A" "r.(?)" "p.(Ala563Thr)" "" "0000862059" "00015654" "30" "1722" "-16" "1722" "-16" "c.1722-16T>G" "r.(=)" "p.(=)" "" "0000862060" "00015654" "50" "1741" "0" "1741" "0" "c.1741A>C" "r.(?)" "p.(Ile581Leu)" "" "0000862061" "00015654" "30" "1754" "0" "1754" "0" "c.1754G>A" "r.(?)" "p.(Arg585Gln)" "" "0000862062" "00015654" "30" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Glu592Lys)" "" "0000862063" "00015654" "30" "1783" "0" "1783" "0" "c.1783A>G" "r.(?)" "p.(Asn595Asp)" "" "0000862064" "00015654" "30" "1797" "0" "1797" "0" "c.1797C>T" "r.(?)" "p.(Gly599=)" "" "0000889289" "00015654" "30" "201" "0" "201" "0" "c.201C>A" "r.(?)" "p.(Val67=)" "" "0000889290" "00015654" "30" "861" "0" "861" "0" "c.861A>G" "r.(?)" "p.(Leu287=)" "" "0000889291" "00015654" "30" "1182" "0" "1182" "0" "c.1182A>C" "r.(?)" "p.(Thr394=)" "" "0000889292" "00015654" "50" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Ala424Thr)" "" "0000905098" "00015654" "90" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238*)" "6" "0000913345" "00015654" "10" "381" "22" "381" "24" "c.381+22_381+24del" "r.(=)" "p.(=)" "" "0000913346" "00015654" "50" "604" "0" "604" "0" "c.604T>C" "r.(?)" "p.(Cys202Arg)" "" "0000913347" "00015654" "30" "753" "14" "753" "14" "c.753+14G>A" "r.(=)" "p.(=)" "" "0000913348" "00015654" "50" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Arg392Cys)" "" "0000913349" "00015654" "50" "1190" "0" "1190" "0" "c.1190A>C" "r.(?)" "p.(Glu397Ala)" "" "0000913350" "00015654" "50" "1429" "0" "1429" "0" "c.1429G>T" "r.(?)" "p.(Asp477Tyr)" "" "0000925211" "00015654" "50" "1225" "0" "1225" "0" "c.1225G>A" "r.(?)" "p.(Ala409Thr)" "" "0000925212" "00015654" "50" "1273" "0" "1273" "0" "c.1273C>A" "r.(?)" "p.(Leu425Met)" "" "0000925213" "00015654" "30" "1662" "0" "1662" "0" "c.1662A>G" "r.(?)" "p.(Pro554=)" "" "0000929714" "00015654" "90" "143" "0" "143" "0" "c.143C>G" "r.(?)" "p.(Thr48Arg)" "" "0000929716" "00015654" "50" "1207" "0" "1207" "0" "c.1207A>G" "r.(?)" "p.(Lys403Glu)" "" "0000929717" "00015654" "30" "1275" "0" "1275" "0" "c.1275G>C" "r.(?)" "p.(=)" "" "0000929718" "00015654" "50" "1849" "0" "1851" "0" "c.1849_1851del" "r.(?)" "p.(Glu617del)" "" "0000949458" "00015654" "30" "381" "7" "381" "7" "c.381+7A>G" "r.(=)" "p.(=)" "" "0000949459" "00015654" "50" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133Cys)" "" "0000949460" "00015654" "50" "398" "0" "398" "0" "c.398G>A" "r.(?)" "p.(Arg133His)" "" "0000949461" "00015654" "30" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(=)" "" "0000965903" "00015654" "50" "82" "0" "82" "0" "c.82A>G" "r.(?)" "p.(Asn28Asp)" "" "0000965904" "00015654" "10" "381" "15" "381" "24" "c.381+15_381+24dup" "r.(=)" "p.(=)" "" "0000965905" "00015654" "50" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Pro487Leu)" "" "0000965906" "00015654" "30" "1688" "0" "1688" "0" "c.1688C>T" "r.(?)" "p.(Ala563Val)" "" "0000979206" "00015654" "30" "60" "0" "60" "0" "c.60T>C" "r.(?)" "p.(=)" "" "0000979207" "00015654" "50" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(Tyr65Cys)" "" "0000979208" "00015654" "50" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "" "0000979209" "00015654" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Gly270Asp)" "" "0000998583" "00015654" "50" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273Trp)" "" "0000998584" "00015654" "30" "1086" "6" "1086" "6" "c.1086+6T>C" "r.(=)" "p.(=)" "" "0001014668" "00015654" "30" "381" "19" "381" "24" "c.381+19_381+24dup" "r.(=)" "p.(=)" "" "0001014669" "00015654" "30" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Trp)" "" "0001014670" "00015654" "50" "1391" "0" "1391" "0" "c.1391T>G" "r.(?)" "p.(Met464Arg)" "" "0001025781" "00015654" "30" "381" "18" "381" "24" "c.381+18_381+24dup" "r.(=)" "p.(=)" "" "0001025782" "00015654" "30" "381" "20" "381" "24" "c.381+20_381+24del" "r.(=)" "p.(=)" "" "0001025783" "00015654" "50" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273Gln)" "" "0001025784" "00015654" "50" "1068" "0" "1068" "0" "c.1068A>G" "r.(?)" "p.(=)" "" "0001038065" "00015654" "50" "381" "1" "381" "2" "c.381+1_381+2insGAA" "r.spl?" "p.?" "" "0001038066" "00015654" "50" "381" "1" "381" "2" "c.381+1_381+2insGAAA" "r.spl?" "p.?" "" "0001038067" "00015654" "50" "381" "2" "381" "2" "c.381+2T>A" "r.spl?" "p.?" "" "0001038068" "00015654" "50" "381" "2" "381" "2" "c.381+2T>G" "r.spl?" "p.?" "" "0001038069" "00015654" "50" "381" "2" "381" "3" "c.381+2_381+3del" "r.spl?" "p.?" "" "0001038070" "00015654" "50" "381" "2" "381" "2" "c.381+2del" "r.spl?" "p.?" "" "0001038071" "00015654" "30" "381" "24" "381" "24" "c.381+24dup" "r.(=)" "p.(=)" "" "0001038072" "00015654" "50" "1064" "0" "1064" "0" "c.1064G>C" "r.(?)" "p.(Cys355Ser)" "" "0001046251" "00015654" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000050485" "0000079465" "0000050485" "0000079673" "0000220038" "0000454922" "0000220038" "0000454924" "0000220057" "0000454950" "0000220058" "0000454951" "0000220059" "0000454952" "0000220060" "0000454953" "0000220061" "0000454954" "0000220062" "0000454955" "0000220170" "0000455087" "0000220170" "0000455088" "0000230531" "0000472096" "0000230532" "0000472097" "0000230533" "0000472098" "0000230533" "0000472101" "0000230534" "0000472099" "0000230535" "0000472100" "0000230536" "0000472102" "0000230537" "0000472103" "0000230538" "0000472104" "0000230539" "0000472105" "0000230540" "0000472106" "0000291333" "0000648022" "0000376395" "0000787991" "0000427662" "0000905098"