### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CTSK) # 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}}" "CTSK" "cathepsin K" "1" "q21" "unknown" "NG_011848.1" "UD_132118508455" "" "http://www.LOVD.nl/CTSK" "" "1" "2536" "1513" "601105" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CTSK_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-29 10:40:10" "00006" "2025-11-20 12:33:25" ## 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}}" "00005872" "CTSK" "cathepsin K" "001" "NM_000396.3" "" "NP_000387.1" "" "" "" "-229" "1581" "990" "150780917" "150768684" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02040" "PYKNODYSOSTOSIS" "Pycnodysostosis" "AR" "265800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CTSK" "02040" ## Individuals ## Do not remove or alter this header ## ## Count = 84 "{{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}}" "00058526" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "M" "?" "Brazil" "" "0" "" "" "" "" "00058527" "" "" "" "1" "" "01521" "{PMID: Araujo 2016:27558267}" "" "M" "yes" "Brazil" "" "0" "" "" "" "" "00058528" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00058529" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00058530" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00058531" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00058556" "" "" "" "16" "" "00006" "{PMID:Gelb 1996:8703060}" "large, consanguineous family, 16 affecteds" "F;M" "yes" "Israel" "" "0" "" "" "Arab" "" "00058557" "" "" "" "2" "" "00006" "{PMID:Gelb 1996:8703060}" "2-generation family with 2 affected sibs" "" "" "Morocco" "" "0" "" "" "Arab" "" "00058558" "" "" "" "1" "" "00006" "{PMID:Gelb 1996:8703060}" "" "" "no" "United States" "" "0" "" "" "Hispanic" "" "00064684" "" "" "" "2" "" "01521" "{PMID:Arman 2014:24767306}" "2 affected cousins" "F" "yes" "Turkey" "" "0" "" "" "" "" "00064742" "" "" "" "2" "" "01521" "{PMID:Arman 2014:24767306}" "2 affected cousins" "F" "" "Turkey" "" "0" "" "" "" "" "00064770" "" "" "" "4" "" "01521" "{PMID:Arman 2014:24767306}" "Four affected individuals from four different families\r\nGender: (M,F,M,M)" "" "yes" "Turkey" "" "0" "" "" "" "" "00064771" "" "" "" "1" "" "01521" "{PMID:Arman 2014:24767306}" "" "F" "no" "Turkey" "" "0" "" "" "" "" "00064772" "" "" "" "1" "" "01521" "{PMID:Arman 2014:24767306}" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00064773" "" "" "" "2" "" "01521" "{PMID:Arman 2014:24767306}" "Two affected individuals. One female (8) with consanguineos parents and one male (9) with non-consaguineous parents." "" "" "Turkey" "" "0" "" "" "" "" "00064774" "" "" "" "3" "" "01521" "{PMID:Arman 2014:24767306}" "Three affected individuals from three different families.\r\nGender: (M,F,M)" "" "yes" "Turkey" "" "0" "" "" "" "" "00064775" "" "" "" "3" "" "01521" "{PMID:Arman 2014:24767306}" "Three affected individuals from three different families.\r\nGender: (M,F,M)" "" "yes" "Turkey" "" "0" "" "" "" "" "00064776" "" "" "" "3" "" "01521" "{PMID:Arman 2014:24767306}" "Three affected females, two siblings and one unrelated" "F" "yes" "Turkey" "" "0" "" "" "" "" "00074568" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00074569" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "F" "yes" "Brazil" "" "0" "" "" "" "" "00074570" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00074571" "" "" "" "2" "" "01521" "{PMID:Araujo 2016:27558267}" "one female (7) and one male (11) from two unrelated consanguineous families." "-" "yes" "Brazil" "" "0" "" "" "" "" "00074572" "" "" "" "2" "" "01521" "{PMID:Araujo 2016:27558267}" "two affected siblings (one male and one female)" "" "no" "Brazil" "" "0" "" "" "" "" "00074574" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00074575" "" "" "" "4" "" "01521" "{PMID:Araujo 2016:27558267}" "Four unrelated affected individuals from four consanguineous families. Gender: M(13), M(15), M(19) and F(27)." "" "yes" "Brazil" "" "0" "" "" "" "" "00074576" "" "" "" "2" "" "01521" "{PMID:Araujo 2016:27558267}" "two affected brothers" "M" "no" "Brazil" "" "0" "" "" "" "" "00074577" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00074579" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00074581" "" "" "" "3" "" "01521" "{PMID:Araujo 2016:27558267}" "Three unrelated affected males from three consanuineous families." "M" "yes" "Brazil" "" "0" "" "" "" "" "00074582" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00074583" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "M" "yes" "Brazil" "" "0" "" "" "" "" "00074584" "" "" "" "2" "" "01521" "{PMID:Araujo 2016:27558267}" "Two affected sibs (one male and one female)" "" "no" "Brazil" "" "0" "" "" "" "" "00074586" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00074587" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00074589" "" "" "" "2" "" "01521" "{PMID:Araujo 2016:27558267}" "Two affected sisters" "F" "no" "Brazil" "" "0" "" "" "" "" "00074590" "" "" "" "2" "" "01521" "{PMID:Araujo 2016:27558267}" "Two affected sibs (one male and one female)" "" "no" "Brazil" "" "0" "" "" "" "" "00074591" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00074593" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "M" "no" "Brazil" "" "0" "" "" "" "" "00074594" "" "" "" "1" "" "01521" "{PMID:Araujo 2016:27558267}" "" "F" "yes" "Brazil" "" "0" "" "" "" "" "00094998" "" "" "" "1" "" "00006" "{PMID:Gelb 1998:9529353}" "2-generation family, 1 affected, unaffected heterozygous carrier father, non-carrier mother" "M" "" "Belgium" "" "0" "" "" "Belgian;Algerian" "" "00095006" "" "" "" "1" "" "00006" "{PMID:Hou 1999:10074491}" "" "" "" "United States" "" "0" "" "" "" "" "00095007" "" "" "" "1" "" "00006" "{PMID:Hou 1999:10074491}" "" "" "" "United States" "" "0" "" "" "" "" "00095008" "" "" "" "1" "" "00006" "{PMID:Hou 1999:10074491}" "" "" "" "United States" "" "0" "" "" "Spanish" "" "00095009" "" "" "" "1" "" "00006" "{PMID:Hou 1999:10074491}" "" "" "" "United States" "" "0" "" "" "Portugese" "" "00095010" "" "" "" "1" "" "00006" "{PMID:Hou 1999:10074491}" "" "" "" "United States" "" "0" "" "" "Indian" "" "00095011" "" "" "" "1" "" "00006" "{PMID:Hou 1999:10074491}" "" "" "" "United States" "" "0" "" "" "Portugese" "" "00095012" "" "" "" "1" "" "00006" "{PMID:Hou 1999:10074491}" "" "" "" "United States" "" "0" "" "" "" "" "00095013" "" "" "" "1" "" "00006" "{PMID:Hou 1999:10074491}" "" "" "" "United States" "" "0" "" "" "Honduran" "" "00095014" "" "" "" "1" "" "00006" "{PMID:Nishi 1999:10571690}" "" "" "" "Japan" "" "0" "" "" "" "" "00095015" "" "" "" "1" "" "00006" "{PMID:Nishi 1999:10571690}" "" "" "" "Japan" "" "0" "" "" "" "" "00095016" "" "" "" "1" "" "00006" "{PMID:Nishi 1999:10571690}" "" "" "" "Japan" "" "0" "" "" "" "" "00095017" "" "" "" "1" "" "00006" "{PMID:Nishi 1999:10571690}" "" "" "" "Japan" "" "0" "" "" "" "" "00095018" "" "" "" "2" "" "00006" "{PMID:Nishi 1999:10571690}" "2-generation family, 2 affected sibs" "" "" "Switzerland" "" "0" "" "" "" "" "00095019" "" "" "" "1" "" "00006" "{PMID:Fujita 2000:10634420}" "" "M" "no" "Japan" "" "0" "" "" "" "" "00095020" "" "" "" "1" "" "00006" "{PMID:Fujita 2000:10634420}" "" "F" "yes" "Japan" "" "0" "" "" "" "" "00095021" "" "" "" "1" "" "00006" "{PMID:Fujita 2000:10634420}" "" "M" "yes" "Japan" "" "0" "" "" "" "" "00095022" "" "" "" "1" "" "00006" "{PMID:Fujita 2000:10634420}" "" "M" "no" "Japan" "" "0" "" "" "" "" "00095023" "" "" "" "1" "" "00006" "{PMID:Haagerup 2000:10878663}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Denmark" "" "0" "" "" "" "" "00095024" "" "" "" "2" "" "00006" "{PMID:Haagerup 2000:10878663}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Denmark" "" "0" "" "" "" "" "00095025" "" "" "" "2" "" "00006" "{PMID:Haagerup 2000:10878663}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Denmark" "" "0" "" "" "" "" "00095026" "" "" "" "1" "" "00006" "{PMID:Haagerup 2000:10878663}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Denmark" "" "0" "" "" "" "" "00095027" "" "" "" "3" "" "00006" "{PMID:Haagerup 2000:10878663}" "2-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents" "F;M" "no" "Denmark" "" "0" "" "" "" "" "00095028" "" "" "" "1" "" "00006" "{PMID:Fratzl-Zelman 2004:15070910}" "" "M" "" "Austria" "" "0" "" "" "" "" "00095029" "" "" "" "1" "" "00006" "{PMID:Fratzl-Zelman 2004:15070910}" "" "F" "" "Austria" "" "0" "" "" "" "" "00095030" "" "" "" "3" "" "00006" "{PMID:Schilling 2007:17206399}" "5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs" "F;M" "yes" "Germany" "" "0" "" "" "" "" "00095031" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "M" "no" "Italy" "" "0" "" "" "" "" "00095032" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00095033" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "" "00095034" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "" "00095035" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "" "00095036" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "F" "yes" "Scotland" "" "0" "" "" "Pakistan" "" "00095037" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "" "00095038" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "M" "yes" "Canada" "" "0" "" "" "Egypt" "" "00095039" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "F" "no" "Portugal" "" "0" "" "" "" "" "00095040" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00095041" "" "" "" "1" "" "00006" "{PMID:Donnarumma 2007:17397052}" "" "M" "yes" "Tunisia" "" "0" "" "" "" "" "00095042" "" "" "" "3" "" "00006" "{PMID:Donnarumma 2007:17397052}" "3 related patients" "F;M" "yes" "Netherlands" "" "0" "" "" "Morocco" "" "00095043" "" "" "" "1" "" "00006" "{PMID:Chavassieux 2008:18302508}" "" "F" "" "France" "" "0" "" "" "" "" "00095044" "" "" "" "1" "" "00006" "{PMID:Li 2009:19215700}" "" "M" "" "China" "" "0" "" "" "" "" "00264073" "" "" "" "1" "" "03388" "{PMID:Razmara 2020:31944631}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Iran" "?" "0" "no" "none" "" "CTSK-IV1" "00331389" "" "" "" "5" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 5 affected (5M)" "M" "yes" "" "" "0" "" "" "Arab" "11DG2311, 11DG2314, 11DG2315, 13DG0493, 13DG0494" "00331390" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2F)" "F" "yes" "" "" "0" "" "" "Arab" "12DG1644, 12DG1645" "00469853" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00469854" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 84 "{{individualid}}" "{{diseaseid}}" "00058526" "02040" "00058527" "02040" "00058528" "02040" "00058529" "02040" "00058530" "02040" "00058531" "02040" "00058556" "02040" "00058557" "02040" "00058558" "02040" "00064684" "02040" "00064742" "02040" "00064770" "02040" "00064771" "02040" "00064772" "02040" "00064773" "02040" "00064774" "02040" "00064775" "02040" "00064776" "02040" "00074568" "02040" "00074569" "02040" "00074570" "02040" "00074571" "02040" "00074572" "02040" "00074574" "02040" "00074575" "02040" "00074576" "02040" "00074577" "02040" "00074579" "02040" "00074581" "02040" "00074582" "02040" "00074583" "02040" "00074584" "02040" "00074586" "02040" "00074587" "02040" "00074589" "02040" "00074590" "02040" "00074591" "02040" "00074593" "02040" "00074594" "02040" "00094998" "02040" "00095006" "02040" "00095007" "02040" "00095008" "02040" "00095009" "02040" "00095010" "02040" "00095011" "02040" "00095012" "02040" "00095013" "02040" "00095014" "02040" "00095015" "02040" "00095016" "02040" "00095017" "02040" "00095018" "02040" "00095019" "02040" "00095020" "02040" "00095021" "02040" "00095022" "02040" "00095023" "02040" "00095024" "02040" "00095025" "02040" "00095026" "02040" "00095027" "02040" "00095028" "02040" "00095029" "02040" "00095030" "02040" "00095031" "02040" "00095032" "02040" "00095033" "02040" "00095034" "02040" "00095035" "02040" "00095036" "02040" "00095037" "02040" "00095038" "02040" "00095039" "02040" "00095040" "02040" "00095041" "02040" "00095042" "02040" "00095043" "02040" "00095044" "02040" "00264073" "04184" "00331389" "05517" "00331390" "05517" "00469853" "05517" "00469854" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02040, 04184, 05517 ## Count = 63 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000045125" "02040" "00058526" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000045126" "02040" "00058527" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000045127" "02040" "00058528" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000045128" "02040" "00058529" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000045129" "02040" "00058530" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000045130" "02040" "00058531" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000045151" "02040" "00058556" "00006" "Familial, autosomal recessive" "" "osteosclerosis, short stature, acro-osteolysis distal phalanges, bone fragility, clavicular dysplasia, skul deformities with delayed suture closure" "" "" "" "" "" "" "" "" "" "0000045152" "02040" "00058557" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000045153" "02040" "00058558" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000050900" "02040" "00064742" "01521" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000050929" "02040" "00064770" "01521" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000050931" "02040" "00064771" "01521" "Familial, autosomal recessive" "" "Arnold Chiari malformation" "" "" "" "" "" "" "" "" "" "0000050932" "02040" "00064775" "01521" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000051194" "02040" "00064684" "01521" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000051195" "02040" "00064772" "01521" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000051196" "02040" "00064773" "01521" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000051197" "02040" "00064774" "01521" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000051198" "02040" "00064776" "01521" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000073386" "02040" "00094998" "00006" "Familial, autosomal recessive" "" "see paper; ..., skeletal dysplasia, pycnodysostosis, normal birth height/weight; 7y-normal psychomotor development" "" "" "" "" "" "" "" "" "" "0000073394" "02040" "00095006" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073395" "02040" "00095007" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073396" "02040" "00095008" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073397" "02040" "00095009" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073398" "02040" "00095010" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073399" "02040" "00095011" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073400" "02040" "00095012" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073401" "02040" "00095013" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073402" "02040" "00095014" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073403" "02040" "00095015" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073404" "02040" "00095016" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073405" "02040" "00095017" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073406" "02040" "00095018" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073407" "02040" "00095019" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073408" "02040" "00095020" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073409" "02040" "00095021" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073410" "02040" "00095022" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073411" "02040" "00095023" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073412" "02040" "00095024" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073413" "02040" "00095025" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073414" "02040" "00095026" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073415" "02040" "00095027" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073416" "02040" "00095028" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073417" "02040" "00095029" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073418" "02040" "00095030" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073419" "02040" "00095031" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073420" "02040" "00095032" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073421" "02040" "00095033" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073422" "02040" "00095034" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073423" "02040" "00095035" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073424" "02040" "00095036" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073425" "02040" "00095037" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073426" "02040" "00095038" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073427" "02040" "00095039" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073428" "02040" "00095040" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073429" "02040" "00095041" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073430" "02040" "00095042" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073431" "02040" "00095043" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000073432" "02040" "00095044" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "0000201927" "04184" "00264073" "03388" "Familial, autosomal recessive" "18y" "typical clinical features hereditary pycnodysostosis, abnormal skeletal system, scoliosis, short stature, skeletal dysplasia, increased bone density, open sutures of anterior fontanelle, closed posterior fontanelle, history of developed easy fractures (3x), asymmetric skull, macrocephaly, short fingers with dysplastic nails, midface retrusion; dental abnormalities including severe crowding, poor oral hygiene, periodontal problems, delayed exfoliation primary teeth, eruption permanent teeth, enamel hypoplasia, obliteration pulp chambers, hypercementosis; radiographs exhibit very obtuse mandibular angle, general increase bone density, open fontanels and sutures" "03y03m" "18y" "" "" "" "" "" "PCND" "pycnodysostosis" "0000249581" "05517" "00331389" "00000" "Familial, autosomal recessive" "" "Osteopetrosis, Frontal bossing, Depressed nasal bridge, Acromesomelia, Pectus carinatumNo" "" "" "" "" "" "" "" "Osteopetrosis and related disorders" "skeletal dysplasia" "0000249582" "05517" "00331390" "00000" "Familial, autosomal recessive" "" "Osteopetrosis, Short stature, Deviated nasal septum, Abnormality of the dentition" "" "" "" "" "" "" "" "Osteopetrosis and related disorders" "skeletal dysplasia" "0000354998" "05517" "00469853" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "pycnodysostosis" "skeletal dysplasia" "0000354999" "05517" "00469854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "pycnodysostosis" "skeletal dysplasia" ## Screenings ## Do not remove or alter this header ## ## Count = 84 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058489" "00058526" "1" "01521" "01521" "2016-01-27 18:57:02" "" "" "SEQ" "DNA" "" "" "0000058490" "00058527" "1" "01521" "01521" "2016-01-27 19:30:28" "00006" "2016-01-29 11:49:11" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000058491" "00058528" "1" "01521" "01521" "2016-01-27 19:37:31" "" "" "SEQ" "DNA" "" "" "0000058492" "00058529" "1" "01521" "01521" "2016-01-27 19:42:35" "" "" "SEQ" "DNA" "" "" "0000058493" "00058530" "1" "01521" "01521" "2016-01-27 19:46:17" "" "" "SEQ" "DNA" "" "" "0000058494" "00058531" "1" "01521" "01521" "2016-01-27 19:49:49" "" "" "SEQ" "DNA" "" "" "0000058521" "00058556" "1" "00006" "00006" "2016-01-31 02:10:41" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000058522" "00058557" "1" "00006" "00006" "2016-01-31 02:20:00" "00006" "2016-01-31 02:32:41" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000058523" "00058558" "1" "00006" "00006" "2016-01-31 02:25:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000064881" "00064742" "1" "01521" "01521" "2016-05-10 16:14:34" "" "" "SEQ" "DNA" "" "" "0000064911" "00064770" "1" "01521" "01521" "2016-05-11 19:11:00" "" "" "SEQ" "DNA" "" "" "0000064912" "00064771" "1" "01521" "01521" "2016-05-11 19:27:53" "" "" "SEQ" "DNA" "" "" "0000064913" "00064772" "1" "01521" "01521" "2016-05-11 19:35:22" "" "" "SEQ" "DNA" "" "" "0000064914" "00064773" "1" "01521" "01521" "2016-05-11 19:43:28" "" "" "SEQ" "DNA" "" "" "0000064915" "00064775" "1" "01521" "01521" "2016-05-11 19:54:23" "" "" "SEQ" "DNA" "" "" "0000064916" "00064684" "1" "01521" "01521" "2016-05-11 20:09:31" "" "" "SEQ" "DNA" "" "" "0000064917" "00064774" "1" "01521" "01521" "2016-05-11 20:14:39" "" "" "SEQ" "DNA" "" "" "0000064918" "00064776" "1" "01521" "01521" "2016-05-11 20:19:52" "" "" "SEQ" "DNA" "" "" "0000074731" "00074568" "1" "01521" "01521" "2016-07-08 13:57:10" "" "" "SEQ" "DNA" "blood" "" "0000074732" "00074569" "1" "01521" "01521" "2016-07-08 14:08:13" "" "" "SEQ" "DNA" "" "" "0000074733" "00074570" "1" "01521" "01521" "2016-07-08 14:17:14" "" "" "SEQ" "DNA" "blood" "" "0000074734" "00074571" "1" "01521" "01521" "2016-07-08 14:25:13" "" "" "SEQ" "DNA" "blood" "" "0000074735" "00074572" "1" "01521" "01521" "2016-07-08 14:35:39" "" "" "SEQ" "DNA" "blood" "" "0000074736" "00074574" "1" "01521" "01521" "2016-07-08 14:41:44" "" "" "SEQ" "DNA" "blood" "" "0000074738" "00074575" "1" "01521" "01521" "2016-07-08 14:48:35" "" "" "SEQ" "DNA" "blood" "" "0000074739" "00074576" "1" "01521" "01521" "2016-07-08 15:04:03" "" "" "SEQ" "DNA" "blood" "" "0000074740" "00074577" "1" "01521" "01521" "2016-07-08 15:09:33" "" "" "SEQ" "DNA" "blood" "" "0000074742" "00074579" "1" "01521" "01521" "2016-07-08 15:20:18" "" "" "SEQ" "DNA" "blood" "" "0000074744" "00074581" "1" "01521" "01521" "2016-07-08 15:26:38" "" "" "SEQ" "DNA" "blood" "" "0000074745" "00074582" "1" "01521" "01521" "2016-07-08 15:33:14" "" "" "SEQ" "DNA" "blood" "" "0000074746" "00074583" "1" "01521" "01521" "2016-07-08 15:36:36" "" "" "SEQ" "DNA" "blood" "" "0000074747" "00074584" "1" "01521" "01521" "2016-07-08 15:40:17" "" "" "SEQ" "DNA" "blood" "" "0000074749" "00074586" "1" "01521" "01521" "2016-07-08 15:45:13" "" "" "SEQ" "DNA" "blood" "" "0000074750" "00074587" "1" "01521" "01521" "2016-07-08 15:49:38" "" "" "SEQ" "DNA" "blood" "" "0000074752" "00074589" "1" "01521" "01521" "2016-07-08 15:54:14" "" "" "SEQ" "DNA" "blood" "" "0000074753" "00074590" "1" "01521" "01521" "2016-07-08 15:59:20" "" "" "SEQ" "DNA" "blood" "" "0000074754" "00074591" "1" "01521" "01521" "2016-07-08 16:04:20" "" "" "SEQ" "DNA" "blood" "" "0000074756" "00074593" "1" "01521" "01521" "2016-07-08 16:08:33" "" "" "SEQ" "DNA" "blood" "" "0000074757" "00074594" "1" "01521" "01521" "2016-07-08 16:13:47" "" "" "SEQ" "DNA" "blood" "" "0000095397" "00094998" "1" "00006" "00006" "2017-01-05 15:38:15" "" "" "microscope;microsat;SEQ" "DNA" "" "" "0000095405" "00095006" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095406" "00095007" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095407" "00095008" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095408" "00095009" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095409" "00095010" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095410" "00095011" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095411" "00095012" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095412" "00095013" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095413" "00095014" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095414" "00095015" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095415" "00095016" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095416" "00095017" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095417" "00095018" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095418" "00095019" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095419" "00095020" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095420" "00095021" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095421" "00095022" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095422" "00095023" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000095423" "00095024" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000095424" "00095025" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000095425" "00095026" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000095426" "00095027" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000095427" "00095028" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095428" "00095029" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095429" "00095030" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095430" "00095031" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095431" "00095032" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095432" "00095033" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095433" "00095034" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095434" "00095035" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095435" "00095036" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095436" "00095037" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095437" "00095038" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000095438" "00095039" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095439" "00095040" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095440" "00095041" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095441" "00095042" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095442" "00095043" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000095443" "00095044" "1" "00006" "00006" "2017-01-05 17:59:08" "" "" "SEQ" "DNA" "" "" "0000265208" "00264073" "1" "03388" "03388" "2019-09-10 11:07:45" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000332608" "00331389" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332609" "00331390" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471521" "00469853" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471522" "00469854" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 82 "{{screeningid}}" "{{geneid}}" "0000058489" "CTSK" "0000058490" "CTSK" "0000058491" "CTSK" "0000058492" "CTSK" "0000058493" "CTSK" "0000058494" "CTSK" "0000058521" "CTSK" "0000058522" "CTSK" "0000058523" "CTSK" "0000064881" "CTSK" "0000064911" "CTSK" "0000064912" "CTSK" "0000064913" "CTSK" "0000064914" "CTSK" "0000064915" "CTSK" "0000064916" "CTSK" "0000064917" "CTSK" "0000064918" "CTSK" "0000074731" "CTSK" "0000074732" "CTSK" "0000074733" "CTSK" "0000074734" "CTSK" "0000074735" "CTSK" "0000074736" "CTSK" "0000074738" "CTSK" "0000074739" "CTSK" "0000074740" "CTSK" "0000074742" "CTSK" "0000074744" "CTSK" "0000074745" "CTSK" "0000074746" "CTSK" "0000074747" "CTSK" "0000074749" "CTSK" "0000074750" "CTSK" "0000074752" "CTSK" "0000074753" "CTSK" "0000074754" "CTSK" "0000074756" "CTSK" "0000074757" "CTSK" "0000095397" "CTSK" "0000095405" "CTSK" "0000095406" "CTSK" "0000095407" "CTSK" "0000095408" "CTSK" "0000095409" "CTSK" "0000095410" "CTSK" "0000095411" "CTSK" "0000095412" "CTSK" "0000095413" "CTSK" "0000095414" "CTSK" "0000095415" "CTSK" "0000095416" "CTSK" "0000095417" "CTSK" "0000095418" "CTSK" "0000095419" "CTSK" "0000095420" "CTSK" "0000095421" "CTSK" "0000095422" "CTSK" "0000095423" "CTSK" "0000095424" "CTSK" "0000095425" "CTSK" "0000095426" "CTSK" "0000095427" "CTSK" "0000095428" "CTSK" "0000095429" "CTSK" "0000095430" "CTSK" "0000095431" "CTSK" "0000095432" "CTSK" "0000095433" "CTSK" "0000095434" "CTSK" "0000095435" "CTSK" "0000095436" "CTSK" "0000095437" "CTSK" "0000095438" "CTSK" "0000095439" "CTSK" "0000095440" "CTSK" "0000095441" "CTSK" "0000095442" "CTSK" "0000095443" "CTSK" "0000265208" "CTSK" "0000332608" "CTSK" "0000332609" "CTSK" ## 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 = 119 "{{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}}" "0000089070" "3" "70" "1" "150779199" "150779199" "dup" "0" "01521" "CTSK_000001" "g.150779199dup" "" "{PMID:Araujo et al, 2016:27558267}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150806723dup" "" "likely pathogenic" "" "0000089071" "3" "70" "1" "150779199" "150779199" "dup" "0" "01521" "CTSK_000001" "g.150779199dup" "" "{PMID:Araujo et al, 2016:27558267}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150806723dup" "" "likely pathogenic" "" "0000089072" "3" "70" "1" "150779199" "150779199" "dup" "0" "01521" "CTSK_000001" "g.150779199dup" "" "{PMID:Araujo et al, 2016:27558267}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150806723dup" "" "likely pathogenic" "" "0000089073" "3" "70" "1" "150779199" "150779199" "dup" "0" "01521" "CTSK_000001" "g.150779199dup" "" "{PMID:Araujo et al, 2016:27558267}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150806723dup" "" "likely pathogenic" "" "0000089074" "3" "70" "1" "150779199" "150779199" "dup" "0" "01521" "CTSK_000001" "g.150779199dup" "" "{PMID:Araujo et al, 2016:27558267}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150806723dup" "" "likely pathogenic" "" "0000089075" "21" "70" "1" "150779199" "150779199" "dup" "0" "01521" "CTSK_000001" "g.150779199dup" "" "{PMID:Araujo et al, 2016:27558267}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150806723dup" "" "likely pathogenic" "" "0000089076" "11" "90" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "p.R241X" "" "Germline" "yes" "rs74315303" "0" "" "" "g.150799607G>A" "" "pathogenic" "" "0000089106" "3" "90" "1" "150769275" "150769275" "subst" "0" "00006" "CTSK_000003" "g.150769275T>C" "" "{PMID:Gelb 1996:08703060}, {OMIM601105:0001}" "" "1095A>G" "not in 86 Arab control chromosomes" "Germline" "yes" "rs74315301" "0" "" "" "g.150796799T>C" "" "pathogenic" "" "0000089107" "3" "90" "1" "150776679" "150776679" "subst" "2.03148E-5" "00006" "CTSK_000004" "g.150776679C>G" "" "{PMID:Gelb 1996:08703060}, {OMIM601105:0002}" "" "G>C (G146R)" "" "Germline" "yes" "rs74315302" "0" "" "" "g.150804203C>G" "" "pathogenic" "" "0000089108" "1" "90" "1" "150776679" "150776679" "subst" "2.03148E-5" "00006" "CTSK_000004" "g.150776679C>G" "" "{PMID:Gelb 1996:08703060}, {OMIM601105:0002}" "BamI" "" "" "Germline" "" "rs74315302" "0" "" "" "g.150804203C>G" "" "pathogenic" "" "0000089109" "2" "90" "1" "150772083" "150772083" "subst" "6.90361E-5" "00006" "CTSK_000002" "g.150772083G>A" "" "{PMID:Gelb 1996:08703060}, {OMIM601105:0003}" "" "826C>T (R241X)" "" "Germline" "" "rs74315303" "0" "" "" "g.150799607G>A" "" "pathogenic" "" "0000096536" "0" "70" "1" "150779279" "150779279" "subst" "4.06521E-6" "01521" "CTSK_000005" "g.150779279C>T" "" "{PMID:Arman 2014:24767306}" "" "p.M1I" "" "Germline" "yes" "" "0" "" "" "g.150806803C>T" "" "likely pathogenic" "" "0000096567" "3" "70" "1" "150779262" "150779262" "subst" "0" "01521" "CTSK_000006" "g.150779262A>G" "" "{PMID:Arman 2014:24767306}" "" "p.L9P" "" "Germline" "yes" "" "0" "" "" "g.150806786A>G" "" "likely pathogenic" "" "0000096568" "3" "70" "1" "150778583" "150778583" "subst" "0" "01521" "CTSK_000007" "g.150778583C>A" "" "{PMID:Arman 2014:24767306}" "" "p.D80Y" "" "Germline" "yes" "" "0" "" "" "g.150806107C>A" "" "likely pathogenic" "" "0000096569" "3" "70" "1" "150776610" "150776610" "subst" "0" "01521" "CTSK_000008" "g.150776610C>T" "" "{PMID:Arman 2014:24767306}" "" "p.D169N" "" "Germline" "yes" "" "0" "" "" "g.150804134C>T" "" "likely pathogenic" "" "0000096570" "3" "70" "1" "150772058" "150772058" "subst" "2.03047E-5" "01521" "CTSK_000009" "g.150772058A>G" "" "{PMID:Arman 2014:24767306}" "" "p.I249T" "" "Germline" "yes" "" "0" "" "" "g.150799582A>G" "" "likely pathogenic" "" "0000096571" "3" "70" "1" "150769331" "150769331" "subst" "1.21831E-5" "01521" "CTSK_000010" "g.150769331G>A" "" "{PMID:Arman 2014:24767306}" "" "p.R312X" "" "Germline" "yes" "" "0" "" "" "g.150796855G>A" "" "likely pathogenic" "" "0000096572" "3" "70" "1" "150779279" "150779279" "subst" "4.06521E-6" "01521" "CTSK_000005" "g.150779279C>T" "" "{PMID:Arman 2014:24767306}" "" "p.M1I" "" "Germline" "yes" "" "0" "" "" "g.150806803C>T" "" "likely pathogenic" "" "0000096573" "3" "70" "1" "150769331" "150769331" "subst" "1.21831E-5" "01521" "CTSK_000010" "g.150769331G>A" "" "{PMID:Arman 2014:24767306}" "" "p.R312X" "" "Germline" "yes" "" "0" "" "" "g.150796855G>A" "" "likely pathogenic" "" "0000096574" "3" "70" "1" "150769388" "150769389" "ins" "0" "01521" "CTSK_000011" "g.150769388_150769389ins[HSU18392:g.16_316]" "" "{PMID:Arman 2014:24767306}" "" "N296fX54 (IVS7-14-15insAlu:HSU18392)" "301 bp Alu insertion" "Germline" "yes" "" "0" "" "" "g.150796912_150796913ins[HSU18392:g.16_316]" "" "likely pathogenic" "" "0000119795" "3" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119796" "3" "70" "1" "150769312" "150769312" "subst" "8.12183E-6" "01521" "CTSK_000012" "g.150769312C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150796836C>T" "" "likely pathogenic" "" "0000119797" "3" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119798" "3" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119799" "3" "70" "1" "150776679" "150776679" "subst" "2.03148E-5" "01521" "CTSK_000004" "g.150776679C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150804203C>G" "" "likely pathogenic" "" "0000119800" "3" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119801" "3" "70" "1" "150776679" "150776679" "subst" "2.03148E-5" "01521" "CTSK_000004" "g.150776679C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150804203C>G" "" "likely pathogenic" "" "0000119803" "21" "70" "1" "150776679" "150776679" "subst" "2.03148E-5" "01521" "CTSK_000004" "g.150776679C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150804203C>G" "" "likely pathogenic" "" "0000119804" "11" "70" "1" "150776535" "150776535" "subst" "0" "01521" "CTSK_000013" "g.150776535C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150804059C>T" "" "likely pathogenic" "" "0000119805" "21" "70" "1" "150779199" "150779199" "dup" "0" "01521" "CTSK_000001" "g.150779199dup" "" "{PMID:Araujo et al, 2016:27558267}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150806723dup" "" "likely pathogenic" "" "0000119806" "10" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119808" "3" "70" "1" "150776679" "150776679" "subst" "2.03148E-5" "01521" "CTSK_000004" "g.150776679C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150804203C>G" "" "likely pathogenic" "" "0000119809" "3" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119811" "3" "70" "1" "150769312" "150769312" "subst" "8.12183E-6" "01521" "CTSK_000012" "g.150769312C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150796836C>T" "" "likely pathogenic" "" "0000119812" "3" "70" "1" "150769312" "150769312" "subst" "8.12183E-6" "01521" "CTSK_000012" "g.150769312C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150796836C>T" "" "likely pathogenic" "" "0000119813" "21" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119814" "11" "70" "1" "150776679" "150776679" "subst" "2.03148E-5" "01521" "CTSK_000004" "g.150776679C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150804203C>G" "" "likely pathogenic" "" "0000119815" "21" "70" "1" "150769312" "150769312" "subst" "8.12183E-6" "01521" "CTSK_000012" "g.150769312C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150796836C>T" "" "likely pathogenic" "" "0000119816" "11" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119818" "1" "70" "1" "150776679" "150776679" "subst" "2.03148E-5" "01521" "CTSK_000004" "g.150776679C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150804203C>G" "" "likely pathogenic" "" "0000119819" "2" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119821" "21" "70" "1" "150779199" "150779199" "dup" "0" "01521" "CTSK_000001" "g.150779199dup" "" "{PMID:Araujo et al, 2016:27558267}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150806723dup" "" "likely pathogenic" "" "0000119822" "11" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119823" "21" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119824" "11" "70" "1" "150776679" "150776679" "subst" "2.03148E-5" "01521" "CTSK_000004" "g.150776679C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150804203C>G" "" "likely pathogenic" "" "0000119825" "21" "70" "1" "150769312" "150769312" "subst" "8.12183E-6" "01521" "CTSK_000012" "g.150769312C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150796836C>T" "" "likely pathogenic" "" "0000119826" "11" "70" "1" "150779199" "150779199" "dup" "0" "01521" "CTSK_000001" "g.150779199dup" "" "{PMID:Araujo et al, 2016:27558267}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150806723dup" "" "likely pathogenic" "" "0000119827" "1" "70" "1" "150772083" "150772083" "subst" "6.90361E-5" "01521" "CTSK_000002" "g.150772083G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799607G>A" "" "likely pathogenic" "" "0000119829" "2" "70" "1" "150776679" "150776679" "subst" "2.03148E-5" "01521" "CTSK_000004" "g.150776679C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150804203C>G" "" "likely pathogenic" "" "0000119830" "3" "70" "1" "150771704" "150771704" "subst" "4.06101E-6" "01521" "CTSK_000014" "g.150771704G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150799228G>A" "" "likely pathogenic" "" "0000153948" "11" "90" "1" "150771704" "150771704" "subst" "4.06101E-6" "00006" "CTSK_000014" "g.150771704G>A" "" "{PMID:Gelb 1998:09529353}" "AciI-" "" "" "Germline" "yes" "" "0" "" "" "g.150799228G>A" "" "pathogenic" "" "0000153950" "10" "90" "1" "150771704" "150771704" "subst" "4.06101E-6" "00006" "CTSK_000014" "g.150771704G>A" "" "{PMID:Gelb 1998:09529353}, {OMIM601105:0004}" "" "935C>T (A277V)" "homoallelic near chr1 centromere, heteroallelic near both telomeres, establishing partial paternal\r\nuniparental isodisomy (meiosis II nondisjunction)" "Uniparental disomy, paternal allele" "yes" "" "0" "" "" "g.150799228G>A" "" "pathogenic" "" "0000153957" "3" "90" "1" "150769310" "150769310" "subst" "4.06075E-6" "00006" "CTSK_000031" "g.150769310C>A" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150796834C>A" "" "pathogenic" "" "0000153958" "3" "90" "1" "150769331" "150769331" "subst" "4.06105E-6" "00006" "CTSK_000032" "g.150769331G>C" "" "{PMID:Hou 1999:10074491}" "" "R312G" "not in >100 control chromosomes" "Germline" "" "" "0" "" "" "g.150796855G>C" "" "pathogenic" "" "0000153959" "3" "90" "1" "150769331" "150769331" "subst" "4.06105E-6" "00006" "CTSK_000032" "g.150769331G>C" "" "{PMID:Fratzl-Zelman 2004:15070910}" "" "1039C>G" "" "Germline" "" "" "0" "" "" "g.150796855G>C" "" "pathogenic" "" "0000153960" "3" "90" "1" "150769334" "150769334" "subst" "4.06121E-6" "00006" "CTSK_000033" "g.150769334C>G" "" "{PMID:Nishi 1999:10571690}" "" "" "" "Germline" "" "" "0" "" "" "g.150796858C>G" "" "pathogenic" "" "0000153961" "3" "90" "1" "150769339" "150769339" "subst" "4.06114E-6" "00006" "CTSK_000034" "g.150769339A>G" "" "{PMID:Haagerup 2000:10878663}, {OMIM601105:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.150796863A>G" "" "pathogenic" "" "0000153962" "2" "90" "1" "150769339" "150769339" "subst" "4.06114E-6" "00006" "CTSK_000034" "g.150769339A>G" "" "{PMID:Haagerup 2000:10878663}, {OMIM601105:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.150796863A>G" "" "pathogenic" "" "0000153963" "2" "90" "1" "150769339" "150769339" "subst" "4.06114E-6" "00006" "CTSK_000034" "g.150769339A>G" "" "{PMID:Haagerup 2000:10878663}, {OMIM601105:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.150796863A>G" "" "pathogenic" "" "0000153964" "3" "90" "1" "150769339" "150769339" "subst" "4.06114E-6" "00006" "CTSK_000034" "g.150769339A>G" "" "{PMID:Haagerup 2000:10878663}, {OMIM601105:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.150796863A>G" "" "pathogenic" "" "0000153965" "3" "90" "1" "150769339" "150769339" "subst" "4.06114E-6" "00006" "CTSK_000034" "g.150769339A>G" "" "{PMID:Haagerup 2000:10878663}, {OMIM601105:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.150796863A>G" "" "pathogenic" "" "0000153966" "2" "90" "1" "150769373" "150769373" "subst" "0" "00006" "CTSK_000035" "g.150769373A>G" "" "{PMID:Nishi 1999:10571690}" "" "" "" "Germline" "" "" "0" "" "" "g.150796897A>G" "" "pathogenic" "" "0000153967" "3" "90" "1" "150771644" "150771644" "subst" "0" "00006" "CTSK_000036" "g.150771644C>T" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150799168C>T" "" "pathogenic" "" "0000153968" "3" "90" "1" "150771704" "150771704" "subst" "4.06101E-6" "00006" "CTSK_000014" "g.150771704G>A" "" "{PMID:Hou 1999:10074491}" "" "A277V" "not in >100 control chromosomes" "Germline" "" "" "0" "" "" "g.150799228G>A" "" "pathogenic" "" "0000153969" "3" "90" "1" "150771704" "150771704" "subst" "4.06101E-6" "00006" "CTSK_000014" "g.150771704G>A" "" "{PMID:Nishi 1999:10571690}" "" "" "" "Germline" "" "" "0" "" "" "g.150799228G>A" "" "pathogenic" "" "0000153970" "3" "90" "1" "150771704" "150771704" "subst" "4.06101E-6" "00006" "CTSK_000014" "g.150771704G>A" "" "{PMID:Nishi 1999:10571690}" "" "" "" "Germline" "" "" "0" "" "" "g.150799228G>A" "" "pathogenic" "" "0000153971" "3" "90" "1" "150771704" "150771704" "subst" "4.06101E-6" "00006" "CTSK_000014" "g.150771704G>A" "" "{PMID:Fujita 2000:10634420}" "" "937C>T (A277V)" "" "Germline" "" "" "0" "" "" "g.150799228G>A" "" "pathogenic" "" "0000153972" "3" "90" "1" "150771704" "150771704" "subst" "4.06101E-6" "00006" "CTSK_000014" "g.150771704G>A" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150799228G>A" "" "pathogenic" "" "0000153973" "3" "90" "1" "150771704" "150771704" "subst" "4.06101E-6" "00006" "CTSK_000014" "g.150771704G>A" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150799228G>A" "" "pathogenic" "" "0000153974" "3" "90" "1" "150771704" "150771704" "subst" "4.06101E-6" "00006" "CTSK_000015" "g.150771704G>T" "" "{PMID:Hou 1999:10074491}" "" "A277E" "not in >100 control chromosomes" "Germline" "" "" "0" "" "" "g.150799228G>T" "" "pathogenic" "" "0000153975" "3" "90" "1" "150771704" "150771704" "subst" "4.06101E-6" "00006" "CTSK_000015" "g.150771704G>T" "" "{PMID:Hou 1999:10074491}" "" "A277E" "not in >100 control chromosomes" "Germline" "" "" "0" "" "" "g.150799228G>T" "" "pathogenic" "" "0000153976" "3" "90" "1" "150772055" "150772055" "subst" "0" "00006" "CTSK_000016" "g.150772055T>C" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150799579T>C" "" "pathogenic" "" "0000153977" "2" "90" "1" "150772058" "150772058" "subst" "2.03047E-5" "00006" "CTSK_000009" "g.150772058A>G" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150799582A>G" "" "pathogenic" "" "0000153978" "2" "90" "1" "150772083" "150772083" "subst" "6.90361E-5" "00006" "CTSK_000002" "g.150772083G>A" "" "{PMID:Hou 1999:10074491}" "" "R241X" "not in >100 control chromosomes" "Germline" "" "" "0" "" "" "g.150799607G>A" "" "pathogenic" "" "0000153979" "3" "90" "1" "150772083" "150772083" "subst" "6.90361E-5" "00006" "CTSK_000002" "g.150772083G>A" "" "{PMID:Hou 1999:10074491}" "" "R241X" "not in >100 control chromosomes" "Germline" "" "" "0" "" "" "g.150799607G>A" "" "pathogenic" "" "0000153980" "2" "90" "1" "150772083" "150772083" "subst" "6.90361E-5" "00006" "CTSK_000002" "g.150772083G>A" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150799607G>A" "" "pathogenic" "" "0000153981" "3" "90" "1" "150772083" "150772083" "subst" "6.90361E-5" "00006" "CTSK_000002" "g.150772083G>A" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150799607G>A" "" "pathogenic" "" "0000153982" "1" "90" "1" "150772083" "150772083" "subst" "6.90361E-5" "00006" "CTSK_000002" "g.150772083G>A" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150799607G>A" "" "pathogenic" "" "0000153983" "1" "90" "1" "150772169" "150772169" "subst" "0" "00006" "CTSK_000017" "g.150772169T>C" "" "{PMID:Hou 1999:10074491}" "" "Y212C" "not in >100 control chromosomes" "Germline" "" "" "0" "" "" "g.150799693T>C" "" "pathogenic" "" "0000153984" "2" "90" "1" "150776535" "150776535" "subst" "0" "00006" "CTSK_000013" "g.150776535C>T" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150804059C>T" "" "pathogenic" "" "0000153985" "3" "90" "1" "150776547" "150776547" "subst" "4.06091E-6" "00006" "CTSK_000018" "g.150776547G>A" "" "{PMID:Hou 1999:10074491}" "" "Q190X" "not in >100 control chromosomes" "Germline" "" "" "0" "" "" "g.150804071G>A" "" "pathogenic" "" "0000153986" "3" "90" "1" "150776555" "150776555" "subst" "0" "00006" "CTSK_000019" "g.150776555T>G" "" "{PMID:Li 2009:19215700}" "" "684A>C" "" "Germline" "" "" "0" "" "" "g.150804079T>G" "" "pathogenic" "" "0000153987" "3" "90" "1" "150776621" "150776621" "subst" "4.06138E-6" "00006" "CTSK_000020" "g.150776621T>C" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150804145T>C" "" "pathogenic" "" "0000153988" "3" "90" "1" "150776692" "150776692" "del" "0" "00006" "CTSK_000021" "g.150776692del" "" "{PMID:Fujita 2000:10634420}" "" "531delT" "" "Germline" "" "" "0" "" "" "g.150804216del" "" "pathogenic" "" "0000153989" "3" "90" "1" "150776692" "150776692" "del" "0" "00006" "CTSK_000021" "g.150776692del" "" "{PMID:Fujita 2000:10634420}" "" "531delT" "" "Germline" "" "" "0" "" "" "g.150804216del" "" "pathogenic" "" "0000153990" "3" "90" "1" "150776693" "150776693" "subst" "0" "00006" "CTSK_000022" "g.150776693G>A" "" "{PMID:Chavassieux 2008:18302508}" "" "546C>T" "" "Germline" "" "" "0" "" "" "g.150804217G>A" "" "pathogenic" "" "0000153991" "3" "90" "1" "150778456" "150778456" "dup" "0" "00006" "CTSK_000023" "g.150778456dup" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150805980dup" "" "pathogenic" "" "0000153992" "2" "90" "1" "150778478" "150778478" "del" "0" "00006" "CTSK_000024" "g.150778478del" "" "{PMID:Fratzl-Zelman 2004:15070910}" "" "363delG" "" "Germline" "" "" "0" "" "" "g.150806002del" "" "pathogenic" "" "0000153993" "2" "90" "1" "150778585" "150778585" "subst" "0" "00006" "CTSK_000025" "g.150778585C>T" "" "{PMID:Hou 1999:10074491}, {OMIM601105:0005}" "" "G79E" "not in >100 control chromosomes" "Germline" "" "" "0" "" "" "g.150806109C>T" "" "pathogenic" "" "0000153994" "1" "90" "1" "150778585" "150778585" "subst" "0" "00006" "CTSK_000025" "g.150778585C>T" "" "{PMID:Haagerup 2000:10878663}" "" "" "" "Germline" "" "" "0" "" "" "g.150806109C>T" "" "pathogenic" "" "0000153995" "1" "90" "1" "150778586" "150778586" "subst" "8.1277E-6" "00006" "CTSK_000026" "g.150778586C>T" "" "{PMID:Fratzl-Zelman 2004:15070910}" "" "340G>A" "" "Germline" "" "" "0" "" "" "g.150806110C>T" "" "pathogenic" "" "0000153996" "1" "90" "1" "150778667" "150778667" "subst" "0" "00006" "CTSK_000027" "g.150778667T>A" "" "{PMID:Hou 1999:10074491}, {OMIM601105:0006}" "" "K52X" "not in >100 control chromosomes" "Germline" "" "" "0" "" "" "g.150806191T>A" "" "pathogenic" "" "0000153997" "3" "90" "1" "150778685" "150778685" "subst" "2.86065E-5" "00006" "CTSK_000028" "g.150778685G>A" "" "{PMID:Schilling 2007:17206399}" "" "C>T (R46W)" "" "Germline" "" "" "0" "" "" "g.150806209G>A" "" "pathogenic" "" "0000153998" "1" "90" "1" "150778701" "150778701" "subst" "1.22941E-5" "00006" "CTSK_000029" "g.150778701C>T" "" "{PMID:Haagerup 2000:10878663}" "" "" "" "Germline" "" "" "0" "" "" "g.150806225C>T" "" "pathogenic" "" "0000153999" "3" "90" "1" "150779223" "150779224" "dup" "0" "00006" "CTSK_000030" "g.150779223_150779224dup" "" "{PMID:Donnarumma 2007:17397052}" "" "60_61dupGA" "" "Germline" "" "" "0" "" "" "g.150806747_150806748dup" "" "pathogenic" "" "0000154000" "3" "90" "1" "150779256" "150779256" "subst" "0" "00006" "CTSK_000037" "g.150779256A>G" "" "{PMID:Nishi 1999:10571690}" "" "" "" "Germline" "" "" "0" "" "" "g.150806780A>G" "" "pathogenic" "" "0000154001" "1" "90" "1" "150779256" "150779256" "subst" "0" "00006" "CTSK_000037" "g.150779256A>G" "" "{PMID:Nishi 1999:10571690}" "" "" "" "Germline" "" "" "0" "" "" "g.150806780A>G" "" "pathogenic" "" "0000154002" "3" "90" "1" "150779256" "150779256" "subst" "0" "00006" "CTSK_000037" "g.150779256A>G" "" "{PMID:Fujita 2000:10634420}" "" "131T>C (L9P)" "" "Germline" "" "" "0" "" "" "g.150806780A>G" "" "pathogenic" "" "0000154003" "1" "90" "1" "150779256" "150779256" "subst" "0" "00006" "CTSK_000037" "g.150779256A>G" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150806780A>G" "" "pathogenic" "" "0000154004" "1" "90" "1" "150779262" "150779262" "subst" "0" "00006" "CTSK_000006" "g.150779262A>G" "" "{PMID:Donnarumma 2007:17397052}" "" "" "" "Germline" "" "" "0" "" "" "g.150806786A>G" "" "pathogenic" "" "0000267206" "0" "10" "1" "150779755" "150779755" "subst" "0.996326" "02325" "CTSK_000040" "g.150779755C>T" "" "" "" "CTSK(NM_000396.4):c.-1-473G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150807279C>T" "" "benign" "" "0000267207" "0" "10" "1" "150771703" "150771703" "subst" "0.990035" "02325" "CTSK_000038" "g.150771703T>C" "" "" "" "CTSK(NM_000396.4):c.831A>G (p.A277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000274608" "0" "30" "1" "150779165" "150779165" "subst" "2.84289E-5" "01943" "CTSK_000039" "g.150779165G>A" "" "" "" "CTSK(NM_000396.3):c.117C>T (p.N39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150806689G>A" "" "likely benign" "" "0000345734" "0" "90" "1" "150776679" "150776679" "subst" "2.03148E-5" "02327" "CTSK_000004" "g.150776679C>G" "" "" "" "CTSK(NM_000396.4):c.436G>C (p.(Gly146Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150804203C>G" "" "pathogenic" "" "0000503104" "0" "30" "1" "150778700" "150778700" "subst" "0" "01804" "ARNT_000003" "g.150778700C>T" "" "" "" "CTSK(NM_000396.3):c.121G>A (p.(Val41Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150806224C>T" "" "likely benign" "" "0000595791" "3" "70" "1" "150769360" "150769360" "subst" "0" "03388" "CTSK_000042" "g.150769360C>T" "" "{PMID:Razmara 2020:31944631}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150796884C>T" "" "likely pathogenic (recessive)" "" "0000716799" "0" "30" "1" "150776602" "150776602" "subst" "5.68551E-5" "01943" "CTSK_000043" "g.150776602C>T" "" "" "" "CTSK(NM_000396.3):c.513G>A (p.V171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729890" "3" "90" "1" "150778521" "150778521" "subst" "0" "00000" "CTSK_000044" "g.150778521T>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000396.3:c.244-29A>G" "" "Germline" "" "" "0" "" "" "g.150806045T>C" "" "likely pathogenic (recessive)" "" "0000729891" "3" "90" "1" "150778521" "150778521" "subst" "0" "00000" "CTSK_000044" "g.150778521T>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000396.3:c.244-29A>G" "" "Germline" "" "" "0" "" "" "g.150806045T>C" "" "likely pathogenic (recessive)" "" "0000798768" "0" "30" "1" "150772129" "150772129" "subst" "0.002469" "01943" "CTSK_000045" "g.150772129T>C" "" "" "" "CTSK(NM_000396.3):c.675A>G (p.R225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882760" "0" "30" "1" "150778434" "150778434" "subst" "9.74786E-5" "01804" "ARNT_000006" "g.150778434C>T" "" "" "" "CTSK(NM_000396.3):c.302G>A (p.(Arg101His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910776" "0" "90" "1" "150769375" "150769375" "subst" "0" "02327" "CTSK_000046" "g.150769375C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013209" "0" "90" "1" "150772058" "150772058" "subst" "2.03047E-5" "02327" "CTSK_000009" "g.150772058A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001017813" "0" "90" "1" "150776622" "150776622" "subst" "0" "03779" "CTSK_000047" "g.150776622G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001031240" "0" "90" "1" "150776679" "150776679" "subst" "2.03148E-5" "01804" "CTSK_000004" "g.150776679C>G" "" "" "" "CTSK(NM_000396.4):c.436G>C (p.(Gly146Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050244" "0" "50" "1" "150776620" "150776620" "subst" "0" "01804" "CTSK_000048" "g.150776620C>G" "" "" "" "CTSK(NM_000396.4):c.495G>C (p.(Gln165His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050245" "0" "50" "1" "150779230" "150779230" "subst" "0" "01804" "ARNT_000007" "g.150779230G>C" "" "" "" "CTSK(NM_000396.4):c.52C>G (p.(Pro18Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059669" "3" "70" "1" "150779161" "150779161" "subst" "4.06134E-6" "00006" "CTSK_000049" "g.150779161C>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.150806685C>A" "SUB13970606" "likely pathogenic (recessive)" "" "0001059670" "3" "70" "1" "150776547" "150776547" "subst" "4.06091E-6" "00006" "CTSK_000018" "g.150776547G>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.150804071G>A" "SCV002053986.1" "likely pathogenic (recessive)" "" ## 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 CTSK ## Count = 119 "{{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}}" "0000089070" "00005872" "70" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Trp29Metfs*10)" "2" "0000089071" "00005872" "70" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Trp29Metfs*10)" "2" "0000089072" "00005872" "70" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Trp29Metfs*10)" "2" "0000089073" "00005872" "70" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Trp29Metfs*10)" "2" "0000089074" "00005872" "70" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Trp29Metfs*10)" "2" "0000089075" "00005872" "70" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Trp29Metfs*10)" "2" "0000089076" "00005872" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000089106" "00005872" "90" "990" "0" "990" "0" "c.990A>G" "r.990a>g" "p.*330Trpext*19" "8" "0000089107" "00005872" "90" "436" "0" "436" "0" "c.436G>C" "r.436g>c" "p.Gly146Arg" "5" "0000089108" "00005872" "90" "436" "0" "436" "0" "c.436G>C" "r.436g>c" "p.Gly146Arg" "5" "0000089109" "00005872" "90" "721" "0" "721" "0" "c.721C>T" "r.721c>u" "p.Arg241*" "6" "0000096536" "00005872" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1Ile)" "2" "0000096567" "00005872" "70" "20" "0" "20" "0" "c.20T>C" "r.(?)" "p.(Leu7Pro)" "2" "0000096568" "00005872" "70" "238" "0" "238" "0" "c.238G>T" "r.(?)" "p.(Asp80Tyr)" "3" "0000096569" "00005872" "70" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Asp169Asn)" "5" "0000096570" "00005872" "70" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Ile249Thr)" "6" "0000096571" "00005872" "70" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312*)" "8" "0000096572" "00005872" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1Ile)" "2" "0000096573" "00005872" "70" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312*)" "8" "0000096574" "00005872" "70" "891" "-15" "891" "-14" "c.891-15_891-14ins[HSU18392:g.16_316inv]" "r.spl" "p.?" "7i" "0000119795" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119796" "00005872" "70" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Cys318Tyr)" "8" "0000119797" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119798" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119799" "00005872" "30" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Gly146Arg)" "5" "0000119800" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119801" "00005872" "70" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Gly146Arg)" "5" "0000119803" "00005872" "70" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Gly146Arg)" "5" "0000119804" "00005872" "70" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Gly194Ser)" "5" "0000119805" "00005872" "70" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Trp29Metfs*10)" "2" "0000119806" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119808" "00005872" "70" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Gly146Arg)" "5" "0000119809" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119811" "00005872" "70" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Cys318Tyr)" "8" "0000119812" "00005872" "70" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Cys318Tyr)" "8" "0000119813" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119814" "00005872" "70" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Gly146Arg)" "5" "0000119815" "00005872" "70" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Cys318Tyr)" "8" "0000119816" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119818" "00005872" "70" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Gly146Arg)" "5" "0000119819" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119821" "00005872" "70" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Trp29Metfs*10)" "2" "0000119822" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119823" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119824" "00005872" "70" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Gly146Arg)" "5" "0000119825" "00005872" "70" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Cys318Tyr)" "8" "0000119826" "00005872" "70" "83" "0" "83" "0" "c.83dup" "r.(?)" "p.(Trp29Metfs*10)" "2" "0000119827" "00005872" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000119829" "00005872" "70" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Gly146Arg)" "5" "0000119830" "00005872" "70" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ala277Val)" "7" "0000153948" "00005872" "90" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ala277Val)" "7" "0000153950" "00005872" "90" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ala277Val)" "7" "0000153957" "00005872" "90" "955" "0" "955" "0" "c.955G>T" "r.(?)" "p.(Gly319Cys)" "8" "0000153958" "00005872" "90" "934" "0" "934" "0" "c.934C>G" "r.(?)" "p.(Arg312Gly)" "8" "0000153959" "00005872" "90" "934" "0" "934" "0" "c.934C>G" "r.(?)" "p.(Arg312Gly)" "8" "0000153960" "00005872" "90" "931" "0" "931" "0" "c.931G>C" "r.(?)" "p.(Ala311Pro)" "8" "0000153961" "00005872" "90" "926" "0" "926" "0" "c.926T>C" "r.925u>c" "p.Leu309Pro" "8" "0000153962" "00005872" "90" "926" "0" "926" "0" "c.926T>C" "r.925u>c" "p.Leu309Pro" "8" "0000153963" "00005872" "90" "926" "0" "926" "0" "c.926T>C" "r.925u>c" "p.Leu309Pro" "8" "0000153964" "00005872" "90" "926" "0" "926" "0" "c.926T>C" "r.925u>c" "p.Leu309Pro" "8" "0000153965" "00005872" "90" "926" "0" "926" "0" "c.926T>C" "r.925u>c" "p.Leu309Pro" "8" "0000153966" "00005872" "90" "892" "0" "892" "0" "c.892T>C" "r.(?)" "p.(Trp298Arg)" "8" "0000153967" "00005872" "90" "890" "0" "890" "0" "c.890G>A" "r.785_890del" "p.(Gly262Alafs*70)" "7" "0000153968" "00005872" "90" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ala277Val)" "7" "0000153969" "00005872" "90" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ala277Val)" "7" "0000153970" "00005872" "90" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ala277Val)" "7" "0000153971" "00005872" "90" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ala277Val)" "7" "0000153972" "00005872" "90" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ala277Val)" "7" "0000153973" "00005872" "90" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ala277Val)" "7" "0000153974" "00005872" "90" "830" "0" "830" "0" "c.830C>A" "r.(?)" "p.(Ala277Glu)" "7" "0000153975" "00005872" "90" "830" "0" "830" "0" "c.830C>A" "r.(?)" "p.(Ala277Glu)" "7" "0000153976" "00005872" "90" "749" "0" "749" "0" "c.749A>G" "r.(?)" "p.(Asp250Gly)" "6" "0000153977" "00005872" "90" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Ile249Thr)" "6" "0000153978" "00005872" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000153979" "00005872" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000153980" "00005872" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000153981" "00005872" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000153982" "00005872" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "6" "0000153983" "00005872" "90" "635" "0" "635" "0" "c.635A>G" "r.(?)" "p.(Tyr212Cys)" "6" "0000153984" "00005872" "90" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Gly194Ser)" "5" "0000153985" "00005872" "90" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Gln190*)" "5" "0000153986" "00005872" "90" "560" "0" "560" "0" "c.560A>C" "r.(?)" "p.(Gln187Pro)" "5" "0000153987" "00005872" "90" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Gln165Arg)" "5" "0000153988" "00005872" "90" "426" "0" "426" "0" "c.426del" "r.(?)" "p.(Phe142Leufs*19)" "5" "0000153989" "00005872" "90" "426" "0" "426" "0" "c.426del" "r.(?)" "p.(Phe142Leufs*19)" "5" "0000153990" "00005872" "90" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Ala141Val)" "5" "0000153991" "00005872" "90" "282" "0" "282" "0" "c.282dup" "r.(?)" "p.(Val95Serfs*9)" "4" "0000153992" "00005872" "90" "259" "0" "259" "0" "c.259del" "r.(?)" "p.(Val87Phefs*4)" "4" "0000153993" "00005872" "90" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Gly79Glu)" "3" "0000153994" "00005872" "90" "236" "0" "236" "0" "c.236G>A" "r.236g>a" "p.Gly79Glu" "3" "0000153995" "00005872" "90" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Gly79Arg)" "3" "0000153996" "00005872" "90" "154" "0" "154" "0" "c.154A>T" "r.(?)" "p.(Lys52*)" "3" "0000153997" "00005872" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Trp)" "3" "0000153998" "00005872" "90" "121" "-1" "121" "-1" "c.121-1G>A" "r.121_243del" "p.Va41_Met81del" "2i" "0000153999" "00005872" "90" "60" "0" "61" "0" "c.60_61dup" "r.(?)" "p.(Ile21Argfs*29)" "2" "0000154000" "00005872" "90" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "2" "0000154001" "00005872" "90" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "2" "0000154002" "00005872" "90" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "2" "0000154003" "00005872" "90" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "2" "0000154004" "00005872" "90" "20" "0" "20" "0" "c.20T>C" "r.(?)" "p.(Leu7Pro)" "2" "0000267206" "00005872" "10" "-1" "-473" "-1" "-473" "c.-1-473G>A" "r.(=)" "p.(=)" "" "0000267207" "00005872" "10" "831" "0" "831" "0" "c.831=" "r.(=)" "p.(Ala277=)" "" "0000274608" "00005872" "30" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(Asn39=)" "" "0000345734" "00005872" "90" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Gly146Arg)" "" "0000503104" "00005872" "30" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Val41Met)" "" "0000595791" "00005872" "70" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Trp302*)" "8" "0000716799" "00005872" "30" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Val171=)" "" "0000729890" "00005872" "90" "244" "-29" "244" "-29" "c.244-29A>G" "r.(=)" "p.(=)" "" "0000729891" "00005872" "90" "244" "-29" "244" "-29" "c.244-29A>G" "r.(=)" "p.(=)" "" "0000798768" "00005872" "30" "675" "0" "675" "0" "c.675A>G" "r.(?)" "p.(Arg225=)" "" "0000882760" "00005872" "30" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "" "0000910776" "00005872" "90" "891" "-1" "891" "-1" "c.891-1G>A" "r.spl?" "p.?" "" "0001013209" "00005872" "90" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Ile249Thr)" "" "0001017813" "00005872" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Gln165Ter)" "" "0001031240" "00005872" "90" "436" "0" "436" "0" "c.436G>C" "r.(?)" "p.(Gly146Arg)" "" "0001050244" "00005872" "50" "495" "0" "495" "0" "c.495G>C" "r.(?)" "p.(Gln165His)" "" "0001050245" "00005872" "50" "52" "0" "52" "0" "c.52C>G" "r.(?)" "p.(Pro18Ala)" "" "0001059669" "00005872" "70" "120" "1" "120" "1" "c.120+1G>T" "r.spl" "p.?" "" "0001059670" "00005872" "70" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Gln190Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 105 "{{screeningid}}" "{{variantid}}" "0000058489" "0000089070" "0000058490" "0000089071" "0000058491" "0000089072" "0000058492" "0000089073" "0000058493" "0000089074" "0000058494" "0000089075" "0000058494" "0000089076" "0000058521" "0000089106" "0000058522" "0000089107" "0000058523" "0000089108" "0000058523" "0000089109" "0000064881" "0000096536" "0000064911" "0000096567" "0000064912" "0000096568" "0000064913" "0000096569" "0000064914" "0000096570" "0000064915" "0000096571" "0000064916" "0000096572" "0000064917" "0000096573" "0000064918" "0000096574" "0000074731" "0000119795" "0000074732" "0000119796" "0000074733" "0000119797" "0000074734" "0000119798" "0000074735" "0000119799" "0000074736" "0000119800" "0000074738" "0000119801" "0000074739" "0000119803" "0000074739" "0000119804" "0000074740" "0000119805" "0000074740" "0000119806" "0000074742" "0000119808" "0000074744" "0000119809" "0000074745" "0000119811" "0000074746" "0000119812" "0000074747" "0000119813" "0000074747" "0000119814" "0000074749" "0000119815" "0000074749" "0000119816" "0000074750" "0000119818" "0000074750" "0000119819" "0000074752" "0000119821" "0000074752" "0000119822" "0000074753" "0000119823" "0000074753" "0000119824" "0000074754" "0000119825" "0000074754" "0000119826" "0000074756" "0000119827" "0000074756" "0000119829" "0000074757" "0000119830" "0000095397" "0000153948" "0000095397" "0000153950" "0000095405" "0000153993" "0000095405" "0000153996" "0000095406" "0000153985" "0000095407" "0000153978" "0000095407" "0000153983" "0000095408" "0000153979" "0000095409" "0000153974" "0000095410" "0000153975" "0000095411" "0000153968" "0000095412" "0000153958" "0000095413" "0000154000" "0000095414" "0000153969" "0000095415" "0000153970" "0000095416" "0000153966" "0000095416" "0000154001" "0000095417" "0000153960" "0000095418" "0000153971" "0000095419" "0000153988" "0000095420" "0000153989" "0000095421" "0000154002" "0000095422" "0000153961" "0000095423" "0000153962" "0000095423" "0000153994" "0000095424" "0000153963" "0000095424" "0000153998" "0000095425" "0000153964" "0000095426" "0000153965" "0000095427" "0000153959" "0000095428" "0000153992" "0000095428" "0000153995" "0000095429" "0000153997" "0000095430" "0000153980" "0000095430" "0000154003" "0000095431" "0000153984" "0000095431" "0000154004" "0000095432" "0000153972" "0000095433" "0000153973" "0000095434" "0000153976" "0000095435" "0000153991" "0000095436" "0000153957" "0000095437" "0000153967" "0000095438" "0000153981" "0000095439" "0000153977" "0000095439" "0000153982" "0000095440" "0000153987" "0000095441" "0000153999" "0000095442" "0000153990" "0000095443" "0000153986" "0000265208" "0000595791" "0000332608" "0000729890" "0000332609" "0000729891" "0000471521" "0001059669" "0000471522" "0001059670"