### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRSS56) # 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}}" "PRSS56" "protease, serine 56" "2" "q37.1" "unknown" "NC_000002.11" "UD_145628269216" "" "https://www.LOVD.nl/PRSS56" "" "1" "39433" "646960" "613858" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2025-12-27 15:31:55" "00006" "2025-12-28 14:58:33" ## 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}}" "00025006" "PRSS56" "protease, serine, 56" "001" "NM_001195129.1" "" "NP_001182058.1" "" "" "" "-136" "2022" "1812" "233385173" "233390426" "00000" "2017-08-08 17:23:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00356" "MCOP" "anoophthalmia/microphthalmia" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2025-11-23 21:29:13" "03358" "MCOP6" "microphthalmia, isolated, type 6" "AR" "613517" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-12-27 15:33:39" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "07223" "NNO" "nanophthalmos" "" "" "" "" "" "00006" "2025-12-28 10:48:14" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PRSS56" "00356" "PRSS56" "03358" ## Individuals ## Do not remove or alter this header ## ## Count = 79 "{{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}}" "00292634" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292635" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00332103" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F31‐PM" "00332104" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "" "Saudi Arabia" "" "0" "" "" "" "F32‐PM" "00332105" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F33‐PM" "00332106" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "no" "Saudi Arabia" "" "0" "" "" "" "F34‐PM" "00332107" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "no" "Saudi Arabia" "" "0" "" "" "" "F35‐PM" "00332108" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F36‐PM" "00332109" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "no" "Saudi Arabia" "" "0" "" "" "" "F37‐PM" "00332110" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F38‐PM" "00332111" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F39‐PM" "00332112" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F40‐PM" "00332113" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F41‐PM" "00332114" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F42‐PM" "00332115" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "F43‐PM" "00382092" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "260" "00415136" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 2" "M" "" "" "" "0" "" "" "" "F2-P2" "00415137" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 3" "F" "" "" "" "0" "" "" "" "F3-P3" "00415138" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 3" "F" "" "" "" "0" "" "" "" "F3-P4" "00415139" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 3" "F" "" "" "" "0" "" "" "" "F3-P5" "00415140" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 3" "M" "" "" "" "0" "" "" "" "F3-P6" "00415141" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 3" "F" "" "" "" "0" "" "" "" "F3-P7" "00415142" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 4" "M" "" "" "" "0" "" "" "" "F4-P8" "00415143" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 5" "F" "" "" "" "0" "" "" "" "F5-P9" "00415144" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 5" "M" "" "" "" "0" "" "" "" "F5-P10" "00415145" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 5" "F" "" "" "" "0" "" "" "" "F5-P11" "00415146" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 6" "M" "" "" "" "0" "" "" "" "F6-P12" "00415147" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 8" "M" "" "" "" "0" "" "" "" "F8-P14" "00415148" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 8" "F" "" "" "" "0" "" "" "" "F8-P15" "00415149" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 8" "F" "" "" "" "0" "" "" "" "F8-P16" "00415150" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 8" "M" "" "" "" "0" "" "" "" "F8-P17" "00415151" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 10" "F" "" "" "" "0" "" "" "" "F10-P19" "00415152" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 10" "M" "" "" "" "0" "" "" "" "F10-P20" "00415153" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 12" "M" "" "" "" "0" "" "" "" "F12-P23" "00415154" "" "" "" "1" "" "00000" "{PMID:Nowilaty 2013:23127749}" "Family 12" "F" "" "" "" "0" "" "" "" "F12-P24" "00415205" "" "" "" "1" "" "00000" "{PMID:Guo 2019:31266062}" "Trio number 1" "" "" "China" "" "0" "" "" "Chinese" "1" "00415206" "" "" "" "1" "" "00000" "{PMID:Guo 2019:31266062}" "Trio number 2" "" "" "China" "" "0" "" "" "Chinese" "2" "00415207" "" "" "" "1" "" "00000" "{PMID:Guo 2019:31266062}" "Trio number 4" "" "" "China" "" "0" "" "" "Chinese" "4" "00415209" "" "" "" "1" "" "00000" "{PMID:Guo 2019:31266062}" "Trio number 6" "" "" "China" "" "0" "" "" "Chinese" "6" "00415210" "" "" "" "1" "" "00000" "{PMID:Guo 2019:31266062}" "Trio number 7" "" "" "China" "" "0" "" "" "Chinese" "7" "00434235" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "" "" "0" "" "" "Africa;black" "Fam16899" "00434236" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam25356" "00471549" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat3" "00471555" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat9" "00471556" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat10" "00471558" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat12" "00471559" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat13" "00471561" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat15" "00471564" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat18" "00471565" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat19" "00471567" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat21" "00471571" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat25" "00471574" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat28" "00471576" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat30" "00471578" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat32" "00471579" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat33" "00471581" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat35" "00471585" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat39" "00471586" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat40" "00471590" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat44" "00471592" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat46" "00471593" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat47" "00471595" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat49" "00471596" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat50" "00471601" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat55" "00471603" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat57" "00471604" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat58" "00471606" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat60" "00471607" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat61" "00471608" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat62" "00471612" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat66" "00471616" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat70" "00471617" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat71" "00471619" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat73" "00471620" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat74" "00471622" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat76" "00471623" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat77" "00471625" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat79" "00471627" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat81" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 79 "{{individualid}}" "{{diseaseid}}" "00292634" "00198" "00292635" "00198" "00332103" "00356" "00332104" "00356" "00332105" "00356" "00332106" "00356" "00332107" "00356" "00332108" "00356" "00332109" "00356" "00332110" "00356" "00332111" "00356" "00332112" "00356" "00332113" "00356" "00332114" "00356" "00332115" "00356" "00382092" "03358" "00415136" "04214" "00415137" "04214" "00415138" "04214" "00415139" "04214" "00415140" "04214" "00415141" "04214" "00415142" "04214" "00415143" "04214" "00415144" "04214" "00415145" "04214" "00415146" "04214" "00415147" "04214" "00415148" "04214" "00415149" "04214" "00415150" "04214" "00415151" "04214" "00415152" "04214" "00415153" "04214" "00415154" "04214" "00415205" "04214" "00415206" "04214" "00415207" "04214" "00415209" "04214" "00415210" "04214" "00434235" "00198" "00434236" "00198" "00471549" "07223" "00471555" "07223" "00471556" "07223" "00471558" "07223" "00471559" "07223" "00471561" "07223" "00471564" "07223" "00471565" "07223" "00471567" "07223" "00471571" "07223" "00471574" "07223" "00471576" "07223" "00471578" "07223" "00471579" "07223" "00471581" "07223" "00471585" "07223" "00471586" "07223" "00471590" "07223" "00471592" "07223" "00471593" "07223" "00471595" "07223" "00471596" "07223" "00471601" "07223" "00471603" "07223" "00471604" "07223" "00471606" "07223" "00471607" "07223" "00471608" "07223" "00471612" "07223" "00471616" "07223" "00471617" "07223" "00471619" "07223" "00471620" "07223" "00471622" "07223" "00471623" "07223" "00471625" "07223" "00471627" "07223" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00356, 03358, 04214, 07223 ## Count = 77 "{{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}}" "0000250294" "00356" "00332103" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250295" "00356" "00332104" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250296" "00356" "00332105" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250297" "00356" "00332106" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250298" "00356" "00332107" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250299" "00356" "00332108" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250300" "00356" "00332109" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250301" "00356" "00332110" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250302" "00356" "00332111" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250303" "00356" "00332112" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250304" "00356" "00332113" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250305" "00356" "00332114" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250306" "00356" "00332115" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000275934" "03358" "00382092" "00000" "Familial, autosomal recessive" "" "microphthalmia, anophthalmia, and coloboma; MIM, 613517" "" "" "" "" "" "" "" "" "" "MIM, 613517" "" "0000306937" "04214" "00415136" "00000" "Familial, autosomal recessive" "5y" "hyperopia, spherical equivalent (d): 17.63; horizontal corneal diameter (mm): 10; manual K average (d): 50.63; orbscan K average (d)51.7; overall K average (d): 51.16; corneal thickness average (mm): 537; central anterior chamber depth (mm): 2.64; lens thickness (mm)4.39; axial vitreous length (mm): 7.81; globe axial length (mm): 15.21; papillomacular foldthick" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306938" "04214" "00415137" "00000" "Familial, autosomal recessive" "21y" "hyperopia, spherical equivalent (d): 13; horizontal corneal diameter (mm): 11.5; manual K average (d): 48.38; orbscan K average (d)49.77; overall K average (d): 49.07; corneal thickness average (mm): 556; central anterior chamber depth (mm): 3.11; lens thickness (mm)4.2; axial vitreous length (mm): 9.04; globe axial length (mm): 16.35; papillomacular foldmoderate" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306939" "04214" "00415138" "00000" "Familial, autosomal recessive" "23y" "hyperopia, spherical equivalent (d): 12.88; horizontal corneal diameter (mm): 12.25; manual K average (d): 47.48; orbscan K average (d)47.4; overall K average (d): 47.44; corneal thickness average (mm): 502; central anterior chamber depth (mm): 2.87; lens thickness (mm)4.67; axial vitreous length (mm): 9.36; globe axial length (mm): 16.9; papillomacular foldmoderate" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306940" "04214" "00415139" "00000" "Familial, autosomal recessive" "21y" "hyperopia, spherical equivalent (d): 15.13; horizontal corneal diameter (mm): 12; manual K average (d): 49.06; orbscan K average (d)49.8; overall K average (d): 49.43; corneal thickness average (mm): 528; central anterior chamber depth (mm): 3.06; lens thickness (mm)4.6; axial vitreous length (mm): 7.92; globe axial length (mm): 15.58; papillomacular foldmoderate" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306941" "04214" "00415140" "00000" "Familial, autosomal recessive" "20y" "hyperopia, spherical equivalent (d): 14; horizontal corneal diameter (mm): 12.25; manual K average (d): 47.6; orbscan K average (d)48.4; overall K average (d): 48; corneal thickness average (mm): 611; central anterior chamber depth (mm): 3.31; lens thickness (mm)4.47; axial vitreous length (mm): 9.29; globe axial length (mm): 17.07; papillomacular foldmoderate" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306942" "04214" "00415141" "00000" "Familial, autosomal recessive" "13y" "hyperopia, spherical equivalent (d): 13.88; horizontal corneal diameter (mm): 12; manual K average (d): 47.82; orbscan K average (d)47.63; overall K average (d): 47.73; corneal thickness average (mm): 571; central anterior chamber depth (mm): 3.56; lens thickness (mm)4.07; axial vitreous length (mm): 9.04; globe axial length (mm): 16.67; papillomacular foldmoderate" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306943" "04214" "00415142" "00000" "Familial, autosomal recessive" "14y" "hyperopia, spherical equivalent (d): 15; horizontal corneal diameter (mm): 12; manual K average (d): 49.82; orbscan K average (d)na; overall K average (d): 49.82; corneal thickness average (mm): na; central anterior chamber depth (mm): 3.3; lens thickness (mm)na; axial vitreous length (mm): na; globe axial length (mm): 16.5; papillomacular foldthick" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306944" "04214" "00415143" "00000" "Familial, autosomal recessive" "21y" "hyperopia, spherical equivalent (d): 17; horizontal corneal diameter (mm): 11; manual K average (d): 50.38; orbscan K average (d)50.5; overall K average (d): 50.44; corneal thickness average (mm): 593; central anterior chamber depth (mm): 2.93; lens thickness (mm)4.34; axial vitreous length (mm): 8.05; globe axial length (mm): 15.32; papillomacular foldmoderate" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306945" "04214" "00415144" "00000" "Familial, autosomal recessive" "12y" "hyperopia, spherical equivalent (d): 16.5; horizontal corneal diameter (mm): 12; manual K average (d): 49; orbscan K average (d)47.75; overall K average (d): 48.37; corneal thickness average (mm): 573; central anterior chamber depth (mm): 3.44; lens thickness (mm)3.99; axial vitreous length (mm): 8.47; globe axial length (mm): 15.9; papillomacular foldthick" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306946" "04214" "00415145" "00000" "Familial, autosomal recessive" "8y" "hyperopia, spherical equivalent (d): 14.13; horizontal corneal diameter (mm): 11; manual K average (d): 49.64; orbscan K average (d)49.2; overall K average (d): 49.42; corneal thickness average (mm): 563; central anterior chamber depth (mm): 3.24; lens thickness (mm)4; axial vitreous length (mm): 8.55; globe axial length (mm): 15.79; papillomacular foldmoderate" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306947" "04214" "00415146" "00000" "Familial, autosomal recessive" "25y" "hyperopia, spherical equivalent (d): 14.5; horizontal corneal diameter (mm): 11.5; manual K average (d): 47.62; orbscan K average (d)48; overall K average (d): 47.81; corneal thickness average (mm): 620; central anterior chamber depth (mm): 3.35; lens thickness (mm)4.2; axial vitreous length (mm): 9; globe axial length (mm): 16.55; papillomacular foldthick" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306948" "04214" "00415147" "00000" "Familial, autosomal recessive" "23y" "hyperopia, spherical equivalent (d): 17.75; horizontal corneal diameter (mm): 10.75; manual K average (d): 48.02; orbscan K average (d)47.85; overall K average (d): 47.94; corneal thickness average (mm): 562; central anterior chamber depth (mm): 3.18; lens thickness (mm)4.14; axial vitreous length (mm): 8.73; globe axial length (mm): 16.05; papillomacular foldthick" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306949" "04214" "00415148" "00000" "Familial, autosomal recessive" "18y" "hyperopia, spherical equivalent (d): 16.75; horizontal corneal diameter (mm): 10.5; manual K average (d): 50.2; orbscan K average (d)50.35; overall K average (d): 50.27; corneal thickness average (mm): 597; central anterior chamber depth (mm): 3.37; lens thickness (mm)4.07; axial vitreous length (mm): 8.42; globe axial length (mm): 15.86; papillomacular foldthick" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306950" "04214" "00415149" "00000" "Familial, autosomal recessive" "16y" "hyperopia, spherical equivalent (d): 18.75; horizontal corneal diameter (mm): 10.5; manual K average (d): 48.29; orbscan K average (d)51; overall K average (d): 49.64; corneal thickness average (mm): 556; central anterior chamber depth (mm): 3.31; lens thickness (mm)3.87; axial vitreous length (mm): 8.48; globe axial length (mm): 15.66; papillomacular foldmoderate" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306951" "04214" "00415150" "00000" "Familial, autosomal recessive" "3y6m" "hyperopia, spherical equivalent (d): 16.13; horizontal corneal diameter (mm): 11.5; manual K average (d): 48.78; orbscan K average (d)50.5; overall K average (d): 49.64; corneal thickness average (mm): 624; central anterior chamber depth (mm): na; lens thickness (mm)na; axial vitreous length (mm): na; globe axial length (mm): 15.24; papillomacular foldthick" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306952" "04214" "00415151" "00000" "Familial, autosomal recessive" "10y" "hyperopia, spherical equivalent (d): 17; horizontal corneal diameter (mm): 11.5; manual K average (d): 48.67; orbscan K average (d)na; overall K average (d): 48.67; corneal thickness average (mm): na; central anterior chamber depth (mm): 3.09; lens thickness (mm)na; axial vitreous length (mm): na; globe axial length (mm): 15.69; papillomacular foldthick" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306953" "04214" "00415152" "00000" "Familial, autosomal recessive" "2y" "hyperopia, spherical equivalent (d): 14; horizontal corneal diameter (mm): 11.6; manual K average (d): 50.57; orbscan K average (d)na; overall K average (d): 50.57; corneal thickness average (mm): na; central anterior chamber depth (mm): 2.79; lens thickness (mm)na; axial vitreous length (mm): na; globe axial length (mm): 15.65; papillomacular foldthick" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306954" "04214" "00415153" "00000" "Familial, autosomal recessive" "26y" "hyperopia, spherical equivalent (d): 16.5; horizontal corneal diameter (mm): 11; manual K average (d): 48.11; orbscan K average (d)47.65; overall K average (d): 47.88; corneal thickness average (mm): 571; central anterior chamber depth (mm): 3.05; lens thickness (mm)4.72; axial vitreous length (mm): 8.58; globe axial length (mm): 16.16; papillomacular foldmoderate" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000306955" "04214" "00415154" "00000" "Familial, autosomal recessive" "20y" "hyperopia, spherical equivalent (d): 16.5; horizontal corneal diameter (mm): 11; manual K average (d): 49.85; orbscan K average (d)49.35; overall K average (d): 49.6; corneal thickness average (mm): 580; central anterior chamber depth (mm): 2.94; lens thickness (mm)4.56; axial vitreous length (mm): 8.18; globe axial length (mm): 15.68; papillomacular foldmoderate" "" "" "" "" "" "" "" "" "posterior microphthalmos" "" "" "0000307003" "04214" "00415205" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "" "0000307004" "04214" "00415206" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "" "0000307005" "04214" "00415207" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "" "0000307007" "04214" "00415209" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "" "0000307008" "04214" "00415210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "" "0000324593" "00198" "00434235" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCOP6" "microphthalmia, anophthalmia, coloboma" "" "0000324594" "00198" "00434236" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MCOP6" "microphthalmia, anophthalmia, coloboma" "" "0000356356" "07223" "00471549" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356362" "07223" "00471555" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356363" "07223" "00471556" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356365" "07223" "00471558" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356366" "07223" "00471559" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356368" "07223" "00471561" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356371" "07223" "00471564" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356372" "07223" "00471565" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356374" "07223" "00471567" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356378" "07223" "00471571" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356381" "07223" "00471574" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356383" "07223" "00471576" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356385" "07223" "00471578" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356386" "07223" "00471579" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356388" "07223" "00471581" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356392" "07223" "00471585" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356393" "07223" "00471586" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356397" "07223" "00471590" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NNO2" "nanophthalmos" "" "0000356399" "07223" "00471592" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356400" "07223" "00471593" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356402" "07223" "00471595" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356403" "07223" "00471596" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356408" "07223" "00471601" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356410" "07223" "00471603" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356411" "07223" "00471604" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356413" "07223" "00471606" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356414" "07223" "00471607" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356415" "07223" "00471608" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356419" "07223" "00471612" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356423" "07223" "00471616" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356424" "07223" "00471617" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356426" "07223" "00471619" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356427" "07223" "00471620" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356429" "07223" "00471622" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356430" "07223" "00471623" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" "0000356432" "07223" "00471625" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCOP6" "nanophthalmos" "" "0000356434" "07223" "00471627" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "nanophthalmos" "" ## Screenings ## Do not remove or alter this header ## ## Count = 79 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293802" "00292634" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293803" "00292635" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000333323" "00332103" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333324" "00332104" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333325" "00332105" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333326" "00332106" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333327" "00332107" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333328" "00332108" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333329" "00332109" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333330" "00332110" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333331" "00332111" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333332" "00332112" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333333" "00332113" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333334" "00332114" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333335" "00332115" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000383308" "00382092" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000416417" "00415136" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416418" "00415137" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416419" "00415138" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416420" "00415139" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416421" "00415140" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416422" "00415141" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416423" "00415142" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416424" "00415143" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416425" "00415144" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416426" "00415145" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416427" "00415146" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416428" "00415147" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416429" "00415148" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416430" "00415149" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416431" "00415150" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416432" "00415151" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416433" "00415152" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416434" "00415153" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416435" "00415154" "1" "00000" "03840" "2022-08-08 16:15:04" "" "" "SEQ" "DNA" "blood" "" "0000416487" "00415205" "1" "00000" "03840" "2022-08-10 11:20:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing of trios" "0000416488" "00415206" "1" "00000" "03840" "2022-08-10 11:20:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing of trios" "0000416489" "00415207" "1" "00000" "03840" "2022-08-10 11:20:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing of trios" "0000416491" "00415209" "1" "00000" "03840" "2022-08-10 11:20:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing of trios" "0000416492" "00415210" "1" "00000" "03840" "2022-08-10 11:20:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing of trios" "0000435703" "00434235" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000435704" "00434236" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000473219" "00471549" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473225" "00471555" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473226" "00471556" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473228" "00471558" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473229" "00471559" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473231" "00471561" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473234" "00471564" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473235" "00471565" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473237" "00471567" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473241" "00471571" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473244" "00471574" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473246" "00471576" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473248" "00471578" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473249" "00471579" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473251" "00471581" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473255" "00471585" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473256" "00471586" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473260" "00471590" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473262" "00471592" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473263" "00471593" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473265" "00471595" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473266" "00471596" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473271" "00471601" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473273" "00471603" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473274" "00471604" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473276" "00471606" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473277" "00471607" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473278" "00471608" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473282" "00471612" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473286" "00471616" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473287" "00471617" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473289" "00471619" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473290" "00471620" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473292" "00471622" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473293" "00471623" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473295" "00471625" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473297" "00471627" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{geneid}}" "0000333323" "PRSS56" "0000333324" "PRSS56" "0000333325" "PRSS56" "0000333326" "PRSS56" "0000333327" "PRSS56" "0000333328" "PRSS56" "0000333329" "PRSS56" "0000333330" "PRSS56" "0000333331" "PRSS56" "0000333332" "PRSS56" "0000333333" "PRSS56" "0000333334" "PRSS56" "0000333335" "PRSS56" "0000383308" "PRSS56" "0000416417" "PRSS56" "0000416418" "PRSS56" "0000416419" "PRSS56" "0000416420" "PRSS56" "0000416421" "PRSS56" "0000416422" "PRSS56" "0000416423" "PRSS56" "0000416424" "PRSS56" "0000416425" "PRSS56" "0000416426" "PRSS56" "0000416427" "PRSS56" "0000416428" "PRSS56" "0000416429" "PRSS56" "0000416430" "PRSS56" "0000416431" "PRSS56" "0000416432" "PRSS56" "0000416433" "PRSS56" "0000416434" "PRSS56" "0000416435" "PRSS56" "0000416487" "PRSS56" "0000416488" "PRSS56" "0000416489" "PRSS56" "0000416491" "PRSS56" "0000416492" "PRSS56" ## 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 = 157 "{{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}}" "0000249000" "0" "10" "2" "233389918" "233389918" "subst" "0.736946" "02325" "PRSS56_000008" "g.233389918A>G" "" "" "" "PRSS56(NM_001195129.2):c.1522-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232525208A>G" "" "benign" "" "0000297404" "0" "10" "2" "233386583" "233386583" "subst" "0.401722" "02325" "PRSS56_000002" "g.233386583T>C" "" "" "" "PRSS56(NM_001195129.2):c.256+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232521873T>C" "" "benign" "" "0000297405" "0" "10" "2" "233385396" "233385396" "subst" "0.717603" "02325" "PRSS56_000001" "g.233385396G>A" "" "" "" "PRSS56(NM_001195129.2):c.88G>A (p.A30T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232520686G>A" "" "benign" "" "0000306517" "0" "30" "2" "233388560" "233388560" "subst" "0.000397895" "01943" "PRSS56_000004" "g.233388560G>A" "" "" "" "PRSS56(NM_001195129.1):c.1091G>A (p.R364Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232523850G>A" "" "likely benign" "" "0000306518" "0" "50" "2" "233388824" "233388824" "subst" "0.00104842" "01943" "PRSS56_000005" "g.233388824T>G" "" "" "" "PRSS56(NM_001195129.1):c.1262T>G (p.L421R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232524114T>G" "" "VUS" "" "0000306519" "0" "50" "2" "233389065" "233389065" "subst" "0.00038397" "01943" "PRSS56_000006" "g.233389065G>T" "" "" "" "PRSS56(NM_001195129.1):c.1400G>T (p.R467L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232524355G>T" "" "VUS" "" "0000328169" "0" "30" "2" "233387823" "233387823" "subst" "0.000420233" "01804" "PRSS56_000003" "g.233387823G>A" "" "" "" "PRSS56(NM_001195129.1):c.760G>A (p.D254N, p.(Asp254Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232523113G>A" "" "likely benign" "" "0000347036" "0" "50" "2" "233394790" "233394790" "subst" "0" "02327" "CHRND_000032" "g.233394790T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232530080T>A" "" "VUS" "" "0000515074" "0" "10" "2" "233385321" "233385321" "subst" "0.00291226" "01943" "PRSS56_000009" "g.233385321G>A" "" "" "" "PRSS56(NM_001195129.1):c.13G>A (p.V5M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232520611G>A" "" "benign" "" "0000515075" "0" "10" "2" "233386531" "233386531" "subst" "0.00103325" "01943" "CHRND_000035" "g.233386531G>C" "" "" "" "PRSS56(NM_001195129.1):c.211G>C (p.G71R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232521821G>C" "" "benign" "" "0000515076" "0" "30" "2" "233387807" "233387807" "subst" "0" "01943" "CHRND_000036" "g.233387807T>C" "" "" "" "PRSS56(NM_001195129.1):c.744T>C (p.V248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232523097T>C" "" "likely benign" "" "0000515077" "0" "50" "2" "233388180" "233388180" "subst" "0.00106041" "01943" "CHRND_000037" "g.233388180G>T" "" "" "" "PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232523470G>T" "" "VUS" "" "0000515079" "0" "30" "2" "233388533" "233388533" "subst" "0.000468203" "01804" "CHRND_000039" "g.233388533C>T" "" "" "" "PRSS56(NM_001195129.1):c.1064C>T (p.(Pro355Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232523823C>T" "" "likely benign" "" "0000515080" "0" "30" "2" "233388540" "233388540" "subst" "0.000655032" "01804" "CHRND_000040" "g.233388540G>T" "" "" "" "PRSS56(NM_001195129.1):c.1071G>T (p.(Glu357Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232523830G>T" "" "likely benign" "" "0000515081" "0" "30" "2" "233388557" "233388557" "subst" "0" "01943" "CHRND_000041" "g.233388557C>T" "" "" "" "PRSS56(NM_001195129.1):c.1088C>T (p.A363V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232523847C>T" "" "likely benign" "" "0000515083" "0" "10" "2" "233388813" "233388813" "subst" "0.851807" "02325" "CHRND_000042" "g.233388813T>G" "" "" "" "PRSS56(NM_001195129.2):c.1251T>G (p.P417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232524103T>G" "" "benign" "" "0000515085" "0" "10" "2" "233389452" "233389452" "subst" "0.0018633" "01943" "CHRND_000043" "g.233389452C>T" "" "" "" "PRSS56(NM_001195129.1):c.1419C>T (p.C473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232524742C>T" "" "benign" "" "0000515086" "0" "50" "2" "233390097" "233390097" "subst" "0.000455744" "01943" "CHRND_000044" "g.233390097G>T" "" "" "" "PRSS56(NM_001195129.1):c.1693G>T (p.A565S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232525387G>T" "" "VUS" "" "0000515087" "0" "30" "2" "233390199" "233390199" "subst" "0.049797" "01804" "CHRND_000045" "g.233390199C>G" "" "" "" "PRSS56(NM_001195129.1):c.1795C>G (p.(Pro599Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232525489C>G" "" "likely benign" "" "0000515089" "0" "10" "2" "233391303" "233391303" "subst" "0.00582695" "01943" "CHRND_000027" "g.233391303C>G" "" "" "" "CHRND(NM_000751.2):c.117C>G (p.N39K, p.(Asn39Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232526593C>G" "" "benign" "" "0000650491" "1" "10" "2" "233386531" "233386531" "subst" "0.00103325" "03575" "CHRND_000035" "g.233386531G>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs115590586}" "Germline" "" "rs115590586" "0" "" "" "g.232521821G>C" "" "benign" "" "0000650492" "1" "70" "2" "233389065" "233389065" "subst" "0.00038397" "03575" "PRSS56_000006" "g.233389065G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs554826646}" "Germline" "" "rs554826646" "0" "" "" "g.232524355G>T" "" "likely pathogenic" "" "0000654589" "0" "30" "2" "233386838" "233386838" "subst" "8.96716E-6" "01943" "CHRND_000055" "g.233386838C>T" "" "" "" "PRSS56(NM_001195129.1):c.414C>T (p.S138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232522128C>T" "" "likely benign" "" "0000676551" "0" "30" "2" "233386038" "233386038" "subst" "2.31421E-5" "01943" "CHRND_000056" "g.233386038G>A" "" "" "" "PRSS56(NM_001195129.1):c.105G>A (p.S35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676552" "0" "30" "2" "233387833" "233387833" "subst" "7.01197E-5" "01943" "CHRND_000057" "g.233387833G>A" "" "" "" "PRSS56(NM_001195129.1):c.770G>A (p.R257Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676553" "0" "30" "2" "233388535" "233388535" "subst" "3.23227E-5" "01943" "CHRND_000058" "g.233388535C>A" "" "" "" "PRSS56(NM_001195129.1):c.1066C>A (p.Q356K), PRSS56(NM_001195129.2):c.1066C>A (p.(Gln356Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676554" "0" "30" "2" "233390171" "233390171" "subst" "0" "01943" "CHRND_000059" "g.233390171G>A" "" "" "" "PRSS56(NM_001195129.1):c.1767G>A (p.G589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688696" "0" "30" "2" "233386104" "233386104" "subst" "7.70499E-5" "01943" "CHRND_000062" "g.233386104G>A" "" "" "" "PRSS56(NM_001195129.1):c.171G>A (p.A57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688697" "0" "70" "2" "233388180" "233388180" "subst" "0.00106041" "02327" "CHRND_000037" "g.233388180G>T" "" "" "" "PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718619" "0" "50" "2" "233387823" "233387823" "subst" "0.000420233" "01943" "PRSS56_000003" "g.233387823G>A" "" "" "" "PRSS56(NM_001195129.1):c.760G>A (p.D254N, p.(Asp254Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730894" "3" "90" "2" "233386812" "233386812" "subst" "0" "00000" "PRSS56_000010" "g.233386812T>G" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232522102T>G" "" "pathogenic (recessive)" "" "0000730895" "3" "90" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "" "0000730896" "3" "90" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "" "0000730897" "3" "90" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "" "0000730898" "3" "90" "2" "233389959" "233389959" "subst" "0" "00000" "PRSS56_000013" "g.233389959G>A" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232525249G>A" "" "pathogenic (recessive)" "" "0000730899" "3" "90" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "" "0000730900" "3" "90" "2" "233390005" "233390005" "subst" "0" "00000" "PRSS56_000014" "g.233390005T>G" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232525295T>G" "" "pathogenic (recessive)" "" "0000730901" "3" "90" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "" "0000730902" "3" "90" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "" "0000730903" "3" "90" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "" "0000730904" "3" "90" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "" "0000730905" "3" "70" "2" "233388237" "233388237" "subst" "0" "00000" "PRSS56_000011" "g.233388237G>T" "" "{PMID:Patel 2017:29450879}" "" "" "ACMG PM1, PM2, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.232523527G>T" "" "likely pathogenic (recessive)" "ACMG" "0000730906" "3" "90" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "" "0000797369" "3" "70" "2" "233386744" "233386744" "subst" "9.75882E-5" "00000" "PRSS56_000015" "g.233386744G>A" "" "{PMID:Patel 2019:30653986}" "" "c.320G-->A; p.Gly107Glu" "no Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.232522034G>A" "" "likely pathogenic" "" "0000849795" "0" "30" "2" "233389045" "233389045" "subst" "0.00169967" "01943" "CHRND_000067" "g.233389045G>A" "" "" "" "PRSS56(NM_001195129.1):c.1380G>A (p.P460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849796" "0" "50" "2" "233394846" "233394846" "subst" "0.000264598" "01943" "CHRND_000068" "g.233394846G>A" "" "" "" "CHRND(NM_000751.2):c.817G>A (p.D273N), CHRND(NM_000751.3):c.817G>A (p.(Asp273Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858407" "0" "50" "2" "233387234" "233387234" "subst" "0" "01943" "CHRND_000066" "g.233387234T>G" "" "" "" "PRSS56(NM_001195129.1):c.456T>G (p.N152K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858408" "0" "10" "2" "233391303" "233391303" "subst" "0.00582695" "01804" "CHRND_000027" "g.233391303C>G" "" "" "" "CHRND(NM_000751.2):c.117C>G (p.N39K, p.(Asn39Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858409" "0" "10" "2" "233391306" "233391306" "subst" "0.0315801" "01804" "CHRND_000019" "g.233391306G>A" "" "" "" "CHRND(NM_000751.2):c.120G>A (p.(Lys40=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000874478" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC]; [1066dupC],p.[Gln356ProfsX152]; [Gln356ProfsX152]" "homozygous" "Unknown" "?" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874479" "3" "70" "2" "233389959" "233389959" "subst" "0" "00000" "PRSS56_000013" "g.233389959G>A" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1555G>A];[1555G>A], p.[G519R];[G519R]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232525249G>A" "" "likely pathogenic" "" "0000874480" "3" "70" "2" "233389959" "233389959" "subst" "0" "00000" "PRSS56_000013" "g.233389959G>A" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1555G>A];[1555G>A], p.[G519R];[G519R]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232525249G>A" "" "likely pathogenic" "" "0000874481" "3" "70" "2" "233389959" "233389959" "subst" "0" "00000" "PRSS56_000013" "g.233389959G>A" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1555G>A];[1555G>A], p.[G519R];[G519R]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232525249G>A" "" "likely pathogenic" "" "0000874482" "3" "70" "2" "233389959" "233389959" "subst" "0" "00000" "PRSS56_000013" "g.233389959G>A" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1555G>A];[1555G>A], p.[G519R];[G519R]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232525249G>A" "" "likely pathogenic" "" "0000874483" "3" "70" "2" "233389959" "233389959" "subst" "0" "00000" "PRSS56_000013" "g.233389959G>A" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1555G>A];[1555G>A], p.[G519R];[G519R]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232525249G>A" "" "likely pathogenic" "" "0000874484" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152]" "homozygous" "Unknown" "?" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874485" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874486" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874487" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874488" "3" "70" "2" "233386812" "233386812" "subst" "0" "00000" "PRSS56_000010" "g.233386812T>G" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[388T>G];[388T>G], p.[C130G];[C130G]" "homozygous" "Unknown" "?" "" "0" "" "" "g.232522102T>G" "" "likely pathogenic" "" "0000874489" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874490" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874491" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874492" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874493" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874494" "3" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874495" "3" "70" "2" "233390005" "233390005" "subst" "0" "00000" "PRSS56_000014" "g.233390005T>G" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1601T>G];[1601T>G], p.[V534G];[V534G]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232525295T>G" "" "likely pathogenic" "" "0000874496" "3" "70" "2" "233390005" "233390005" "subst" "0" "00000" "PRSS56_000014" "g.233390005T>G" "" "{PMID:Nowilaty 2013:23127749}" "" "PRSS56: c.[1601T>G];[1601T>G], p.[V534G];[V534G]" "homozygous" "Germline" "yes" "" "0" "" "" "g.232525295T>G" "" "likely pathogenic" "" "0000874600" "0" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "GnomAD: 58/150520" "{PMID:Guo 2019:31266062}" "" "PRSS56 c.1066dupC, p.Gln356fs (het)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874601" "0" "70" "2" "233386767" "233386767" "dup" "0" "00000" "PRSS56_000016" "g.233386767dup" "GnomAD: 1/97248" "{PMID:Guo 2019:31266062}" "" "PRSS58 c.343dupG, p.Ala115fs (het)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.232522057dup" "" "likely pathogenic" "" "0000874602" "0" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "GnomAD: 58/150520" "{PMID:Guo 2019:31266062}" "" "PRSS60 c.1066dupC, p.Gln356fs (het)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874604" "0" "70" "2" "233388655" "233388655" "subst" "0" "00000" "PRSS56_000018" "g.233388655G>A" "GnomAD: 0" "{PMID:Guo 2019:31266062}" "" "PRSS56 c.1186G>A, p.Glu396Lys (het)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.232523945G>A" "" "likely pathogenic" "" "0000874605" "0" "70" "2" "233388535" "233388535" "dup" "0" "00000" "PRSS56_000012" "g.233388535dup" "GnomAD: 58/150520" "{PMID:Guo 2019:31266062}" "" "PRSS58 c.1066dupC, p.Gln356fs (het)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.232523825dup" "" "likely pathogenic" "" "0000874612" "0" "70" "2" "233390091" "233390091" "del" "0" "00000" "PRSS56_000021" "g.233390091del" "GnomAD: 0" "{PMID:Guo 2019:31266062}" "" "PRSS57 c.1687delC, p.Arg563fs (het)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.232525381del" "" "likely pathogenic" "" "0000874613" "0" "70" "2" "233389541" "233389541" "subst" "0" "00000" "PRSS56_000020" "g.233389541T>A" "GnomAD: 0" "{PMID:Guo 2019:31266062}" "" "PRSS59 c.1508T>A, p.Met503Lys (het)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.232524831T>A" "" "likely pathogenic" "" "0000874614" "0" "70" "2" "233387844" "233387844" "subst" "1.57082E-5" "00000" "PRSS56_000017" "g.233387844G>A" "GnomAD: 2/127322" "{PMID:Guo 2019:31266062}" "" "PRSS61 c.781G>A, p.Gly261Arg (het)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.232523134G>A" "" "likely pathogenic" "" "0000874615" "0" "70" "2" "233388686" "233388707" "del" "0" "00000" "PRSS56_000019" "g.233388686_233388707del" "GnomAD: 0" "{PMID:Guo 2019:31266062}" "" "PRSS57 c.1183+32_1186+50del (het)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.232523976_232523997del" "" "likely pathogenic" "" "0000874616" "0" "70" "2" "233388655" "233388655" "subst" "0" "00000" "PRSS56_000018" "g.233388655G>A" "GnomAD: 0" "{PMID:Guo 2019:31266062}" "" "PRSS59 c.1186G>A, p.Glu396Lys (het)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.232523945G>A" "" "likely pathogenic" "" "0000885020" "0" "50" "2" "233387829" "233387829" "subst" "0" "02329" "CHRND_000069" "g.233387829T>C" "" "" "" "PRSS56(NM_001369848.1):c.766T>C (p.C256R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885021" "0" "50" "2" "233389082" "233389082" "subst" "0" "02329" "CHRND_000070" "g.233389082A>T" "" "" "" "PRSS56(NM_001369848.1):c.1417+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911635" "0" "50" "2" "233387246" "233387246" "subst" "3.09526E-5" "02327" "CHRND_000071" "g.233387246G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921876" "3" "90" "2" "233386744" "233386744" "subst" "9.75882E-5" "00006" "PRSS56_000015" "g.233386744G>A" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.232522034G>A" "" "pathogenic (recessive)" "" "0000921877" "1" "90" "2" "233389472" "233389472" "subst" "7.76E-6" "00006" "PRSS56_000022" "g.233389472G>C" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.232524762G>C" "" "pathogenic (recessive)" "" "0000921934" "2" "90" "2" "233389977" "233389977" "del" "0" "00006" "PRSS56_000023" "g.233389977del" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.232525267del" "" "pathogenic (recessive)" "" "0000947796" "0" "70" "2" "233387243" "233387243" "del" "0" "02329" "CHRND_000073" "g.233387243del" "" "" "" "PRSS56(NM_001195129.2):c.465delG (p.W156Gfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975089" "0" "30" "2" "233387763" "233387763" "subst" "0" "01804" "CHRND_000074" "g.233387763C>T" "" "" "" "PRSS56(NM_001195129.2):c.707-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975090" "0" "50" "2" "233388180" "233388180" "subst" "0.00106041" "01804" "CHRND_000037" "g.233388180G>T" "" "" "" "PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975091" "0" "50" "2" "233388535" "233388535" "subst" "3.23227E-5" "01804" "CHRND_000058" "g.233388535C>A" "" "" "" "PRSS56(NM_001195129.1):c.1066C>A (p.Q356K), PRSS56(NM_001195129.2):c.1066C>A (p.(Gln356Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992655" "0" "30" "2" "233389065" "233389065" "subst" "0.00038397" "02327" "PRSS56_000006" "g.233389065G>T" "" "" "" "PRSS56(NM_001195129.1):c.1400G>T (p.R467L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992656" "0" "30" "2" "233392995" "233392995" "subst" "0.000255817" "01804" "CHRND_000075" "g.233392995G>C" "" "" "" "CHRND(NM_000751.2):c.267G>C (p.(Lys89Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992657" "0" "30" "2" "233393237" "233393237" "subst" "4.06095E-6" "01804" "CHRND_000076" "g.233393237A>G" "" "" "" "CHRND(NM_000751.2):c.380A>G (p.(Tyr127Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992658" "0" "30" "2" "233394675" "233394675" "subst" "0.000225275" "01804" "CHRND_000077" "g.233394675C>T" "" "" "" "CHRND(NM_000751.2):c.646C>T (p.(Arg216Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033106" "0" "50" "2" "233393601" "233393601" "subst" "0" "01804" "CHRND_000080" "g.233393601C>A" "" "" "" "CHRND(NM_000751.3):c.539C>A (p.(Thr180Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033107" "0" "50" "2" "233394759" "233394759" "del" "0" "01804" "CHRND_000081" "g.233394759del" "" "" "" "CHRND(NM_000751.3):c.730del (p.(Arg244Alafs*82))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033108" "0" "30" "2" "233394846" "233394846" "subst" "0.000264598" "01804" "CHRND_000068" "g.233394846G>A" "" "" "" "CHRND(NM_000751.2):c.817G>A (p.D273N), CHRND(NM_000751.3):c.817G>A (p.(Asp273Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033109" "0" "50" "2" "233394854" "233394854" "subst" "0" "02327" "CHRND_000082" "g.233394854G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051132" "0" "50" "2" "233386097" "233386097" "subst" "7.70618E-6" "01804" "CHRND_000088" "g.233386097G>A" "" "" "" "PRSS56(NM_001195129.2):c.164G>A (p.(Arg55Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051133" "0" "90" "2" "233388535" "233388535" "dup" "0" "01804" "PRSS56_000012" "g.233388535dup" "" "" "" "PRSS56(NM_001195129.2):c.1066dup (p.(Gln356ProfsTer152))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051134" "0" "50" "2" "233390936" "233390936" "subst" "8.1624E-6" "01804" "CHRND_000089" "g.233390936C>T" "" "" "" "CHRND(NM_000751.3):c.11C>T (p.(Pro4Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062018" "1" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062024" "1" "50" "2" "233386744" "233386744" "subst" "0" "00006" "PRSS56_000028" "g.233386744G>T" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232522034G>T" "" "VUS" "ACMG" "0001062025" "3" "50" "2" "233386747" "233386747" "subst" "0" "00006" "PRSS56_000029" "g.233386747G>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.232522037G>A" "" "VUS" "ACMG" "0001062027" "1" "70" "2" "233387289" "233387289" "del" "0" "00006" "PRSS56_000032" "g.233387289del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.232522579del" "" "likely pathogenic (recessive)" "ACMG" "0001062028" "0" "50" "2" "233389079" "233389079" "subst" "0" "00006" "PRSS56_000048" "g.233389079G>T" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.232524369G>T" "" "VUS" "ACMG" "0001062030" "1" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062033" "3" "90" "2" "233390091" "233390091" "del" "0" "00006" "PRSS56_000021" "g.233390091del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232525381del" "" "pathogenic (recessive)" "ACMG" "0001062034" "3" "50" "2" "233388773" "233388773" "subst" "0" "00006" "PRSS56_000047" "g.233388773T>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232524063T>C" "" "VUS" "ACMG" "0001062036" "0" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062040" "3" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062043" "1" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062045" "3" "50" "2" "233386814" "233386814" "subst" "0" "00006" "PRSS56_000030" "g.233386814C>G" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232522104C>G" "" "VUS" "ACMG" "0001062047" "1" "70" "2" "233387832" "233387832" "subst" "0" "00006" "PRSS56_000038" "g.233387832C>T" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.232523122C>T" "" "likely pathogenic (recessive)" "ACMG" "0001062048" "1" "70" "2" "233387289" "233387289" "del" "0" "00006" "PRSS56_000032" "g.233387289del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.232522579del" "" "likely pathogenic (recessive)" "ACMG" "0001062050" "1" "50" "2" "233386037" "233386037" "subst" "0" "00006" "PRSS56_000026" "g.233386037C>T" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.232521327C>T" "" "VUS" "ACMG" "0001062054" "3" "70" "2" "233387876" "233387876" "subst" "0" "00006" "PRSS56_000040" "g.233387876C>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.232523166C>A" "" "likely pathogenic (recessive)" "ACMG" "0001062055" "1" "50" "2" "233387497" "233387497" "subst" "0" "00006" "PRSS56_000034" "g.233387497G>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM2_sup" "Germline" "" "" "0" "" "" "g.232522787G>C" "" "VUS" "ACMG" "0001062061" "1" "50" "2" "233385310" "233385310" "subst" "0" "00006" "PRSS56_000024" "g.233385310T>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PVS1_mod" "Germline" "" "" "0" "" "" "g.232520600T>C" "" "VUS" "ACMG" "0001062062" "3" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062064" "3" "50" "2" "233388773" "233388773" "subst" "0" "00006" "PRSS56_000047" "g.233388773T>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232524063T>C" "" "VUS" "ACMG" "0001062065" "1" "50" "2" "233387497" "233387497" "subst" "0" "00006" "PRSS56_000034" "g.233387497G>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.232522787G>C" "" "VUS" "ACMG" "0001062070" "1" "50" "2" "233386744" "233386744" "subst" "9.75882E-5" "00006" "PRSS56_000015" "g.233386744G>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232522034G>A" "" "VUS" "ACMG" "0001062072" "1" "50" "2" "233387842" "233387842" "subst" "0" "00006" "PRSS56_000039" "g.233387842T>G" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.232523132T>G" "" "VUS" "ACMG" "0001062073" "1" "50" "2" "233388151" "233388151" "subst" "1.03084E-5" "00006" "PRSS56_000041" "g.233388151G>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3, PP1" "Germline" "" "" "0" "" "" "g.232523441G>A" "" "VUS" "ACMG" "0001062075" "1" "70" "2" "233387289" "233387289" "del" "0" "00006" "PRSS56_000032" "g.233387289del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.232522579del" "" "likely pathogenic (recessive)" "ACMG" "0001062076" "3" "50" "2" "233386840" "233386840" "subst" "0" "00006" "PRSS56_000031" "g.233386840G>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232522130G>C" "" "VUS" "ACMG" "0001062077" "3" "50" "2" "233387521" "233387521" "subst" "0" "00006" "PRSS56_000035" "g.233387521C>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232522811C>A" "" "VUS" "ACMG" "0001062081" "2" "90" "2" "233390091" "233390091" "del" "0" "00006" "PRSS56_000021" "g.233390091del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232525381del" "" "pathogenic (recessive)" "ACMG" "0001062085" "1" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062086" "1" "90" "2" "233387811" "233387814" "del" "0" "00006" "PRSS56_000037" "g.233387811_233387814del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232523101_232523104del" "" "pathogenic (recessive)" "ACMG" "0001062088" "1" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062089" "0" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062091" "1" "50" "2" "233387318" "233387318" "subst" "0" "00006" "PRSS56_000033" "g.233387318C>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232522608C>A" "" "VUS" "ACMG" "0001062092" "1" "50" "2" "233388219" "233388227" "dup" "0" "00006" "PRSS56_000044" "g.233388219_233388227dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM4" "Germline" "" "" "0" "" "" "g.232523509_232523517dup" "" "VUS" "ACMG" "0001062094" "1" "90" "2" "233386546" "233386546" "subst" "0" "00006" "PRSS56_000027" "g.233386546C>T" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232521836C>T" "" "pathogenic (recessive)" "ACMG" "0001062096" "0" "50" "2" "233387772" "233387772" "subst" "0" "00006" "PRSS56_000036" "g.233387772G>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PP3" "Germline" "" "" "0" "" "" "g.232523062G>A" "" "VUS" "ACMG" "0001062100" "2" "90" "2" "233390091" "233390091" "del" "0" "00006" "PRSS56_000021" "g.233390091del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232525381del" "" "pathogenic (recessive)" "ACMG" "0001062102" "2" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062104" "2" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062106" "2" "70" "2" "233388548" "233388548" "del" "0" "00006" "PRSS56_000046" "g.233388548del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.232523838del" "" "likely pathogenic (recessive)" "ACMG" "0001062109" "2" "90" "2" "233390091" "233390091" "del" "0" "00006" "PRSS56_000021" "g.233390091del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232525381del" "" "pathogenic (recessive)" "ACMG" "0001062112" "2" "50" "2" "233390091" "233390091" "subst" "1.62819E-5" "00006" "PRSS56_000052" "g.233390091C>T" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232525381C>T" "" "VUS" "ACMG" "0001062113" "2" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062115" "2" "90" "2" "233386546" "233386546" "subst" "0" "00006" "PRSS56_000027" "g.233386546C>T" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232521836C>T" "" "pathogenic (recessive)" "ACMG" "0001062117" "2" "50" "2" "233388205" "233388205" "subst" "0" "00006" "PRSS56_000043" "g.233388205G>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.232523495G>C" "" "VUS" "ACMG" "0001062121" "0" "50" "2" "233385382" "233385382" "subst" "3.86763E-5" "00006" "PRSS56_000025" "g.233385382G>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.232520672G>A" "" "VUS" "ACMG" "0001062123" "2" "90" "2" "233390091" "233390091" "del" "0" "00006" "PRSS56_000021" "g.233390091del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232525381del" "" "pathogenic (recessive)" "ACMG" "0001062125" "2" "50" "2" "233388190" "233388190" "subst" "0" "00006" "PRSS56_000042" "g.233388190G>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.232523480G>A" "" "VUS" "ACMG" "0001062129" "2" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062131" "2" "50" "2" "233390022" "233390022" "subst" "0" "00006" "PRSS56_000050" "g.233390022G>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PP" "Germline" "" "" "0" "" "" "g.232525312G>A" "" "VUS" "ACMG" "0001062132" "2" "90" "2" "233388535" "233388535" "del" "0" "00006" "PRSS56_000045" "g.233388535del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232523825del" "" "pathogenic (recessive)" "ACMG" "0001062134" "2" "50" "2" "233388773" "233388773" "subst" "0" "00006" "PRSS56_000047" "g.233388773T>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232524063T>C" "" "VUS" "ACMG" "0001062140" "2" "50" "2" "233390035" "233390035" "subst" "0.000305094" "00006" "PRSS56_000051" "g.233390035C>T" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232525325C>T" "" "VUS" "ACMG" "0001062141" "2" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" "0001062142" "2" "90" "2" "233390091" "233390091" "del" "0" "00006" "PRSS56_000021" "g.233390091del" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "" "" "0" "" "" "g.232525381del" "" "pathogenic (recessive)" "ACMG" "0001062143" "2" "50" "2" "233389079" "233389079" "subst" "0" "00006" "PRSS56_000049" "g.233389079G>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.232524369G>A" "" "VUS" "ACMG" "0001062144" "2" "50" "2" "233388655" "233388655" "subst" "0" "00006" "PRSS56_000018" "g.233388655G>A" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.232523945G>A" "" "VUS" "ACMG" "0001062145" "2" "90" "2" "233388535" "233388535" "dup" "0" "00006" "PRSS56_000012" "g.233388535dup" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PVS1, PM2_sup, PM3" "Germline" "" "" "0" "" "" "g.232523825dup" "" "pathogenic (recessive)" "ACMG" ## 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 PRSS56 ## Count = 157 "{{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}}" "0000249000" "00025006" "10" "1522" "-8" "1522" "-8" "c.1522-8A>G" "r.(=)" "p.(=)" "" "0000297404" "00025006" "10" "256" "7" "256" "7" "c.256+7T>C" "r.(=)" "p.(=)" "" "0000297405" "00025006" "10" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Ala30Thr)" "" "0000306517" "00025006" "30" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Arg364Gln)" "" "0000306518" "00025006" "50" "1262" "0" "1262" "0" "c.1262T>G" "r.(?)" "p.(Leu421Arg)" "" "0000306519" "00025006" "50" "1400" "0" "1400" "0" "c.1400G>T" "r.(?)" "p.(Arg467Leu)" "" "0000328169" "00025006" "30" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Asp254Asn)" "" "0000347036" "00025006" "50" "6386" "0" "6386" "0" "c.*4574T>A" "r.(=)" "p.(=)" "" "0000515074" "00025006" "10" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Val5Met)" "" "0000515075" "00025006" "10" "211" "0" "211" "0" "c.211G>C" "r.(?)" "p.(Gly71Arg)" "" "0000515076" "00025006" "30" "744" "0" "744" "0" "c.744T>C" "r.(?)" "p.(Val248=)" "" "0000515077" "00025006" "50" "904" "0" "904" "0" "c.904G>T" "r.(?)" "p.(Val302Phe)" "" "0000515079" "00025006" "30" "1064" "0" "1064" "0" "c.1064C>T" "r.(?)" "p.(Pro355Leu)" "" "0000515080" "00025006" "30" "1071" "0" "1071" "0" "c.1071G>T" "r.(?)" "p.(Glu357Asp)" "" "0000515081" "00025006" "30" "1088" "0" "1088" "0" "c.1088C>T" "r.(?)" "p.(Ala363Val)" "" "0000515083" "00025006" "10" "1251" "0" "1251" "0" "c.1251T>G" "r.(?)" "p.(Pro417=)" "" "0000515085" "00025006" "10" "1419" "0" "1419" "0" "c.1419C>T" "r.(?)" "p.(Cys473=)" "" "0000515086" "00025006" "50" "1693" "0" "1693" "0" "c.1693G>T" "r.(?)" "p.(Ala565Ser)" "" "0000515087" "00025006" "30" "1795" "0" "1795" "0" "c.1795C>G" "r.(?)" "p.(Pro599Ala)" "" "0000515089" "00025006" "10" "2899" "0" "2899" "0" "c.*1087C>G" "r.(=)" "p.(=)" "" "0000650491" "00025006" "10" "211" "0" "211" "0" "c.211G>C" "r.(?)" "p.(Gly71Arg)" "" "0000650492" "00025006" "70" "1400" "0" "1400" "0" "c.1400G>T" "r.(?)" "p.(Arg467Leu)" "" "0000654589" "00025006" "30" "414" "0" "414" "0" "c.414C>T" "r.(?)" "p.(Ser138=)" "" "0000676551" "00025006" "30" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Ser35=)" "" "0000676552" "00025006" "30" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257Gln)" "" "0000676553" "00025006" "30" "1066" "0" "1066" "0" "c.1066C>A" "r.(?)" "p.(Gln356Lys)" "" "0000676554" "00025006" "30" "1767" "0" "1767" "0" "c.1767G>A" "r.(?)" "p.(Gly589=)" "" "0000688696" "00025006" "30" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Ala57=)" "" "0000688697" "00025006" "70" "904" "0" "904" "0" "c.904G>T" "r.(?)" "p.(Val302Phe)" "" "0000718619" "00025006" "50" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Asp254Asn)" "" "0000730894" "00025006" "90" "388" "0" "388" "0" "c.388T>G" "r.(?)" "p.(Cys130Gly)" "" "0000730895" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000730896" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000730897" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000730898" "00025006" "90" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Gly519Arg)" "" "0000730899" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000730900" "00025006" "90" "1601" "0" "1601" "0" "c.1601T>G" "r.(?)" "p.(Val534Gly)" "" "0000730901" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000730902" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000730903" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000730904" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000730905" "00025006" "70" "961" "0" "961" "0" "c.961G>T" "r.(?)" "p.(Val321Phe)" "" "0000730906" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000797369" "00025006" "70" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Gly107Glu)" "" "0000849795" "00025006" "30" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Pro460=)" "" "0000849796" "00025006" "50" "6442" "0" "6442" "0" "c.*4630G>A" "r.(=)" "p.(=)" "" "0000858407" "00025006" "50" "456" "0" "456" "0" "c.456T>G" "r.(?)" "p.(Asn152Lys)" "" "0000858408" "00025006" "10" "2899" "0" "2899" "0" "c.*1087C>G" "r.(=)" "p.(=)" "" "0000858409" "00025006" "10" "2902" "0" "2902" "0" "c.*1090G>A" "r.(=)" "p.(=)" "" "0000874478" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874479" "00025006" "70" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Gly519Arg)" "" "0000874480" "00025006" "70" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Gly519Arg)" "" "0000874481" "00025006" "70" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Gly519Arg)" "" "0000874482" "00025006" "70" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Gly519Arg)" "" "0000874483" "00025006" "70" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Gly519Arg)" "" "0000874484" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874485" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874486" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874487" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874488" "00025006" "70" "388" "0" "388" "0" "c.388T>G" "r.(?)" "p.(Cys130Gly)" "" "0000874489" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874490" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874491" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874492" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874493" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874494" "00025006" "70" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*152)" "" "0000874495" "00025006" "70" "1601" "0" "1601" "0" "c.1601T>G" "r.(?)" "p.(Val534Gly)" "" "0000874496" "00025006" "70" "1601" "0" "1601" "0" "c.1601T>G" "r.(?)" "p.(Val534Gly)" "" "0000874600" "00025006" "70" "1066" "0" "1066" "0" "c.1066dupC" "r.(?)" "p.(Gln356Profs*152)" "" "0000874601" "00025006" "70" "343" "0" "343" "0" "c.343dupG" "r.(?)" "p.(Ala115Glyfs*39)" "" "0000874602" "00025006" "70" "1066" "0" "1066" "0" "c.1066dupC" "r.(?)" "p.(Gln356Profs*152)" "" "0000874604" "00025006" "70" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "" "0000874605" "00025006" "70" "1066" "0" "1066" "0" "c.1066dupC" "r.(?)" "p.(Gln356Profs*152)" "" "0000874612" "00025006" "70" "1687" "0" "1687" "0" "c.1687delC" "r.(?)" "p.(Arg563Alafs*17)" "" "0000874613" "00025006" "70" "1508" "0" "1508" "0" "c.1508T>A" "r.(?)" "p.(Met503Lys)" "" "0000874614" "00025006" "70" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Gly261Arg)" "" "0000874615" "00025006" "70" "1183" "32" "1186" "50" "c.1183+32_1186+50del" "r.spl" "p.?" "" "0000874616" "00025006" "70" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "" "0000885020" "00025006" "50" "766" "0" "766" "0" "c.766T>C" "r.(?)" "p.(Cys256Arg)" "" "0000885021" "00025006" "50" "1414" "3" "1414" "3" "c.1414+3A>T" "r.spl?" "p.?" "" "0000911635" "00025006" "50" "468" "0" "468" "0" "c.468G>T" "r.(?)" "p.(Trp156Cys)" "" "0000921876" "00025006" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Gly107Glu)" "" "0000921877" "00025006" "90" "1439" "0" "1439" "0" "c.1439G>C" "r.(?)" "p.(Arg480Pro)" "" "0000921934" "00025006" "90" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Val525CysfsTer55)" "" "0000947796" "00025006" "70" "465" "0" "465" "0" "c.465del" "r.(?)" "p.(Trp156Glyfs*3)" "" "0000975089" "00025006" "30" "707" "-7" "707" "-7" "c.707-7C>T" "r.(=)" "p.(=)" "" "0000975090" "00025006" "50" "904" "0" "904" "0" "c.904G>T" "r.(?)" "p.(Val302Phe)" "" "0000975091" "00025006" "50" "1066" "0" "1066" "0" "c.1066C>A" "r.(?)" "p.(Gln356Lys)" "" "0000992655" "00025006" "30" "1400" "0" "1400" "0" "c.1400G>T" "r.(?)" "p.(Arg467Leu)" "" "0000992656" "00025006" "30" "4591" "0" "4591" "0" "c.*2779G>C" "r.(=)" "p.(=)" "" "0000992657" "00025006" "30" "4833" "0" "4833" "0" "c.*3021A>G" "r.(=)" "p.(=)" "" "0000992658" "00025006" "30" "6271" "0" "6271" "0" "c.*4459C>T" "r.(=)" "p.(=)" "" "0001033106" "00025006" "50" "5197" "0" "5197" "0" "c.*3385C>A" "r.(=)" "p.(=)" "" "0001033107" "00025006" "50" "6355" "0" "6355" "0" "c.*4543del" "r.(?)" "p.(=)" "" "0001033108" "00025006" "30" "6442" "0" "6442" "0" "c.*4630G>A" "r.(=)" "p.(=)" "" "0001033109" "00025006" "50" "6450" "0" "6450" "0" "c.*4638G>A" "r.(=)" "p.(=)" "" "0001051132" "00025006" "50" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Arg55Gln)" "" "0001051133" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "" "0001051134" "00025006" "50" "2532" "0" "2532" "0" "c.*720C>T" "r.(=)" "p.(=)" "" "0001062018" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062024" "00025006" "50" "320" "0" "320" "0" "c.320G>T" "r.(?)" "p.(Gly107Val)" "4" "0001062025" "00025006" "50" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Gly108Asp)" "4" "0001062027" "00025006" "70" "511" "0" "511" "0" "c.511del" "r.(?)" "p.(Glu171ArgfsTer4)" "5" "0001062028" "00025006" "50" "1414" "0" "1414" "0" "c.1414G>T" "r.(?)" "p.(Gly472Cys)" "11" "0001062030" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062033" "00025006" "90" "1687" "0" "1687" "0" "c.1687del" "r.(?)" "p.(Arg563AlafsTer17)" "13" "0001062034" "00025006" "50" "1211" "0" "1211" "0" "c.1211T>C" "r.(?)" "p.(Leu404Pro)" "10" "0001062036" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062040" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062043" "00025006" "50" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062045" "00025006" "50" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.(Cys130Trp)" "4" "0001062047" "00025006" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "7" "0001062048" "00025006" "70" "511" "0" "511" "0" "c.511del" "r.(?)" "p.(Glu171ArgfsTer4)" "5" "0001062050" "00025006" "50" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Ser35Leu)" "2" "0001062054" "00025006" "70" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "7" "0001062055" "00025006" "50" "632" "0" "632" "0" "c.632G>C" "r.(?)" "p.(Cys211Ser)" "6" "0001062061" "00025006" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "1" "0001062062" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062064" "00025006" "50" "1211" "0" "1211" "0" "c.1211T>C" "r.(?)" "p.(Leu404Pro)" "10" "0001062065" "00025006" "50" "632" "0" "632" "0" "c.632G>C" "r.(?)" "p.(Cys211Ser)" "6" "0001062070" "00025006" "50" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Gly107Glu)" "4" "0001062072" "00025006" "50" "779" "0" "779" "0" "c.779T>G" "r.(?)" "p.(Leu260Arg)" "7" "0001062073" "00025006" "50" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Cys292Tyr)" "8" "0001062075" "00025006" "70" "511" "0" "511" "0" "c.511del" "r.(?)" "p.(Glu171ArgfsTer4)" "5" "0001062076" "00025006" "50" "416" "0" "416" "0" "c.416G>C" "r.(?)" "p.(Trp139Ser)" "4" "0001062077" "00025006" "50" "656" "0" "656" "0" "c.656C>A" "r.(?)" "p.(Pro219His)" "6" "0001062081" "00025006" "90" "1687" "0" "1687" "0" "c.1687del" "r.(?)" "p.(Arg563AlafsTer17)" "13" "0001062085" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062086" "00025006" "90" "748" "0" "751" "0" "c.748_751del" "r.(?)" "p.(Leu250SerfsTer40)" "7" "0001062088" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062089" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062091" "00025006" "50" "540" "0" "540" "0" "c.540C>A" "r.(?)" "p.(His180Gln)" "5" "0001062092" "00025006" "50" "943" "0" "951" "0" "c.943_951dup" "r.(?)" "p.(Glu315_Gly317dup)" "8" "0001062094" "00025006" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Gln76Ter)" "3" "0001062096" "00025006" "50" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Gly237Arg)" "7" "0001062100" "00025006" "90" "1687" "0" "1687" "0" "c.1687del" "r.(?)" "p.(Arg563AlafsTer17)" "13" "0001062102" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062104" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062106" "00025006" "70" "1079" "0" "1079" "0" "c.1079del" "r.(?)" "p.(Ala360GlufsTer144)" "9" "0001062109" "00025006" "90" "1687" "0" "1687" "0" "c.1687del" "r.(?)" "p.(Arg563AlafsTer17)" "13" "0001062112" "00025006" "50" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Arg563Cys)" "13" "0001062113" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062115" "00025006" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Gln76Ter)" "3" "0001062117" "00025006" "50" "929" "0" "929" "0" "c.929G>C" "r.(?)" "p.(Gly310Ala)" "8" "0001062121" "00025006" "50" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Arg25His)" "1" "0001062123" "00025006" "90" "1687" "0" "1687" "0" "c.1687del" "r.(?)" "p.(Arg563AlafsTer17)" "13" "0001062125" "00025006" "50" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Gly305Glu)" "8" "0001062129" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062131" "00025006" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Val540Met)" "13" "0001062132" "00025006" "90" "1066" "0" "1066" "0" "c.1066del" "r.(?)" "p.(Gln356ArgfsTer148)" "9" "0001062134" "00025006" "50" "1211" "0" "1211" "0" "c.1211T>C" "r.(?)" "p.(Leu404Pro)" "10" "0001062140" "00025006" "50" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Pro544Leu)" "13" "0001062141" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" "0001062142" "00025006" "90" "1687" "0" "1687" "0" "c.1687del" "r.(?)" "p.(Arg563AlafsTer17)" "13" "0001062143" "00025006" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Gly472Ser)" "11" "0001062144" "00025006" "50" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "9" "0001062145" "00025006" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer152)" "9" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 106 "{{screeningid}}" "{{variantid}}" "0000293802" "0000650491" "0000293803" "0000650492" "0000333323" "0000730894" "0000333324" "0000730895" "0000333325" "0000730896" "0000333326" "0000730897" "0000333327" "0000730898" "0000333328" "0000730899" "0000333329" "0000730900" "0000333330" "0000730901" "0000333331" "0000730902" "0000333332" "0000730903" "0000333333" "0000730904" "0000333334" "0000730905" "0000333335" "0000730906" "0000383308" "0000797369" "0000416417" "0000874478" "0000416418" "0000874479" "0000416419" "0000874480" "0000416420" "0000874481" "0000416421" "0000874482" "0000416422" "0000874483" "0000416423" "0000874484" "0000416424" "0000874485" "0000416425" "0000874486" "0000416426" "0000874487" "0000416427" "0000874488" "0000416428" "0000874489" "0000416429" "0000874490" "0000416430" "0000874491" "0000416431" "0000874492" "0000416432" "0000874493" "0000416433" "0000874494" "0000416434" "0000874495" "0000416435" "0000874496" "0000416487" "0000874600" "0000416487" "0000874612" "0000416488" "0000874601" "0000416488" "0000874613" "0000416489" "0000874602" "0000416489" "0000874614" "0000416491" "0000874604" "0000416491" "0000874615" "0000416492" "0000874605" "0000416492" "0000874616" "0000435703" "0000921876" "0000435704" "0000921877" "0000435704" "0000921934" "0000473219" "0001062018" "0000473219" "0001062100" "0000473225" "0001062024" "0000473225" "0001062102" "0000473226" "0001062025" "0000473228" "0001062027" "0000473228" "0001062104" "0000473229" "0001062028" "0000473231" "0001062030" "0000473231" "0001062106" "0000473234" "0001062033" "0000473235" "0001062034" "0000473237" "0001062036" "0000473241" "0001062040" "0000473244" "0001062043" "0000473244" "0001062109" "0000473246" "0001062045" "0000473248" "0001062047" "0000473248" "0001062112" "0000473249" "0001062048" "0000473249" "0001062113" "0000473251" "0001062050" "0000473251" "0001062115" "0000473255" "0001062054" "0000473256" "0001062055" "0000473256" "0001062117" "0000473260" "0001062121" "0000473262" "0001062061" "0000473262" "0001062123" "0000473263" "0001062062" "0000473265" "0001062064" "0000473266" "0001062065" "0000473266" "0001062125" "0000473271" "0001062070" "0000473271" "0001062129" "0000473273" "0001062072" "0000473273" "0001062131" "0000473274" "0001062073" "0000473274" "0001062132" "0000473276" "0001062075" "0000473276" "0001062134" "0000473277" "0001062076" "0000473278" "0001062077" "0000473282" "0001062081" "0000473286" "0001062085" "0000473286" "0001062140" "0000473287" "0001062086" "0000473287" "0001062141" "0000473289" "0001062088" "0000473289" "0001062142" "0000473290" "0001062089" "0000473292" "0001062091" "0000473292" "0001062143" "0000473293" "0001062092" "0000473293" "0001062144" "0000473295" "0001062094" "0000473295" "0001062145" "0000473297" "0001062096"